Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.51790329C>ACA2575160465SCN8Ac.4420-69C>A (n.4420-69C>A)
c.2484-69C>A
c.4297-69C>A (n.4297-69C>A)
c.4453-69C>A (n.4453-69C>A)
 gnomAD v4
12g.51790329C>TCA2618844386SCN8Ac.4420-69C>T (n.4420-69C>T)
c.2484-69C>T
c.4297-69C>T (n.4297-69C>T)
c.4453-69C>T (n.4453-69C>T)
 gnomAD v4
12g.51790332T>ACA2575160466SCN8Ac.4420-66T>A (n.4420-66T>A)
c.2484-66T>A
c.4297-66T>A (n.4297-66T>A)
c.4453-66T>A (n.4453-66T>A)
12g.51790332T>GCA236329822SCN8Ac.4420-66T>G (n.4420-66T>G)
c.2484-66T>G
c.4297-66T>G (n.4297-66T>G)
c.4453-66T>G (n.4453-66T>G)
 dbSNP gnomAD v3 gnomAD v4
12g.51790332T=CA2036173292SCN8Ac.4420-66T= (n.4420-66T=)
c.2484-66T=
c.4297-66T= (n.4297-66T=)
c.4453-66T= (n.4453-66T=)
12g.51790333A>GCA2618844393SCN8Ac.4420-65A>G (n.4420-65A>G)
c.2484-65A>G
c.4297-65A>G (n.4297-65A>G)
c.4453-65A>G (n.4453-65A>G)
 gnomAD v4
12g.51790334G>TCA2618844394SCN8Ac.4420-64G>T (n.4420-64G>T)
c.2484-64G>T
c.4297-64G>T (n.4297-64G>T)
c.4453-64G>T (n.4453-64G>T)
 gnomAD v4
12g.51790335G>ACA2618844396SCN8Ac.4420-63G>A (n.4420-63G>A)
c.2484-63G>A
c.4297-63G>A (n.4297-63G>A)
c.4453-63G>A (n.4453-63G>A)
 gnomAD v4
12g.51790335G>CCA689794276SCN8Ac.4420-63G>C (n.4420-63G>C)
c.2484-63G>C
c.4297-63G>C (n.4297-63G>C)
c.4453-63G>C (n.4453-63G>C)
 dbSNP gnomAD v4
12g.51790335G=CA2036173294SCN8Ac.4420-63G= (n.4420-63G=)
c.2484-63G=
c.4297-63G= (n.4297-63G=)
c.4453-63G= (n.4453-63G=)
12g.51790337C>ACA2618844404SCN8Ac.4420-61C>A (n.4420-61C>A)
c.2484-61C>A
c.4297-61C>A (n.4297-61C>A)
c.4453-61C>A (n.4453-61C>A)
 gnomAD v4
12g.51790337C>GCA2618844403SCN8Ac.4420-61C>G (n.4420-61C>G)
c.2484-61C>G
c.4297-61C>G (n.4297-61C>G)
c.4453-61C>G (n.4453-61C>G)
 gnomAD v4
12g.51790337C>TCA2575160467SCN8Ac.4420-61C>T (n.4420-61C>T)
c.2484-61C>T
c.4297-61C>T (n.4297-61C>T)
c.4453-61C>T (n.4453-61C>T)
12g.51790338C>ACA2618844406SCN8Ac.4420-60C>A (n.4420-60C>A)
c.2484-60C>A
c.4297-60C>A (n.4297-60C>A)
c.4453-60C>A (n.4453-60C>A)
 gnomAD v4
12g.51790338C>TCA2575160468SCN8Ac.4420-60C>T (n.4420-60C>T)
c.2484-60C>T
c.4297-60C>T (n.4297-60C>T)
c.4453-60C>T (n.4453-60C>T)
12g.51790340A>GCA2596577764SCN8Ac.4420-58A>G (n.4420-58A>G)
c.2484-58A>G
c.4297-58A>G (n.4297-58A>G)
c.4453-58A>G (n.4453-58A>G)
 dbSNP gnomAD v3 gnomAD v4
12g.51790340_51790341insTCA2618844412SCN8Ac.4420-58_4420-57insT (n.4420-58_4420-57insT)
c.2484-58_2484-57insT
c.4297-58_4297-57insT (n.4297-58_4297-57insT)
c.4453-58_4453-57insT (n.4453-58_4453-57insT)
 gnomAD v4
12g.51790342C>ACA2575160469SCN8Ac.4420-56C>A (n.4420-56C>A)
c.2484-56C>A
c.4297-56C>A (n.4297-56C>A)
c.4453-56C>A (n.4453-56C>A)
 gnomAD v4
12g.51790342C=CA2036173296SCN8Ac.4420-56C= (n.4420-56C=)
c.2484-56C=
c.4297-56C= (n.4297-56C=)
c.4453-56C= (n.4453-56C=)
12g.51790342C>TCA689794282SCN8Ac.4420-56C>T (n.4420-56C>T)
c.2484-56C>T
c.4297-56C>T (n.4297-56C>T)
c.4453-56C>T (n.4453-56C>T)
 dbSNP
12g.51790342_51790343insTGGACA2618844417SCN8Ac.4420-56_4420-55insTGGA (n.4420-56_4420-55insTGGA)
c.2484-56_2484-55insTGGA
c.4297-56_4297-55insTGGA (n.4297-56_4297-55insTGGA)
c.4453-56_4453-55insTGGA (n.4453-56_4453-55insTGGA)
 gnomAD v4
12g.51790343C>ACA2618844418SCN8Ac.4420-55C>A (n.4420-55C>A)
c.2484-55C>A
c.4297-55C>A (n.4297-55C>A)
c.4453-55C>A (n.4453-55C>A)
 gnomAD v4
12g.51790343C=CA2036173299SCN8Ac.4420-55C= (n.4420-55C=)
c.2484-55C=
c.4297-55C= (n.4297-55C=)
c.4453-55C= (n.4453-55C=)
12g.51790343C>GCA654740267SCN8Ac.4420-55C>G (n.4420-55C>G)
c.2484-55C>G
c.4297-55C>G (n.4297-55C>G)
c.4453-55C>G (n.4453-55C>G)
 dbSNP COSMIC
12g.51790344C>TCA2618844424SCN8Ac.4420-54C>T (n.4420-54C>T)
c.2484-54C>T
c.4297-54C>T (n.4297-54C>T)
c.4453-54C>T (n.4453-54C>T)
 gnomAD v4
12g.51790344_51790345insTTAGGTCCACA2618844427SCN8Ac.4420-54_4420-53insTTAGGTCCA (n.4420-54_4420-53insTTAGGTCCA)
c.2484-54_2484-53insTTAGGTCCA
c.4297-54_4297-53insTTAGGTCCA (n.4297-54_4297-53insTTAGGTCCA)
c.4453-54_4453-53insTTAGGTCCA (n.4453-54_4453-53insTTAGGTCCA)
 gnomAD v4
12g.51790348G>TCA2618844429SCN8Ac.4420-50G>T (n.4420-50G>T)
c.2484-50G>T
c.4297-50G>T (n.4297-50G>T)
c.4453-50G>T (n.4453-50G>T)
 gnomAD v4
12g.51790349C>ACA2618844432SCN8Ac.4420-49C>A (n.4420-49C>A)
c.2484-49C>A
c.4297-49C>A (n.4297-49C>A)
c.4453-49C>A (n.4453-49C>A)
 gnomAD v4
12g.51790350A>GCA2618844433SCN8Ac.4420-48A>G (n.4420-48A>G)
c.2484-48A>G
c.4297-48A>G (n.4297-48A>G)
c.4453-48A>G (n.4453-48A>G)
 gnomAD v4
12g.51790351T>CCA947685397SCN8Ac.4420-47T>C (n.4420-47T>C)
c.2484-47T>C
c.4297-47T>C (n.4297-47T>C)
c.4453-47T>C (n.4453-47T>C)
 dbSNP gnomAD v3 gnomAD v4
12g.51790351T=CA2036173302SCN8Ac.4420-47T= (n.4420-47T=)
c.2484-47T=
c.4297-47T= (n.4297-47T=)
c.4453-47T= (n.4453-47T=)
12g.51790352G>ACA2036173306SCN8Ac.4420-46G>A (n.4420-46G>A)
c.2484-46G>A
c.4297-46G>A (n.4297-46G>A)
c.4453-46G>A (n.4453-46G>A)
 dbSNP gnomAD v4
12g.51790352G=CA2036173305SCN8Ac.4420-46G= (n.4420-46G=)
c.2484-46G=
c.4297-46G= (n.4297-46G=)
c.4453-46G= (n.4453-46G=)
12g.51790353T>ACA2795979808SCN8Ac.4420-45T>A (n.4420-45T>A)
c.2484-45T>A
c.4297-45T>A (n.4297-45T>A)
c.4453-45T>A (n.4453-45T>A)
12g.51790353T>CCA947685398SCN8Ac.4420-45T>C (n.4420-45T>C)
c.2484-45T>C
c.4297-45T>C (n.4297-45T>C)
c.4453-45T>C (n.4453-45T>C)
 dbSNP gnomAD v3 gnomAD v4
12g.51790353T=CA2036173307SCN8Ac.4420-45T= (n.4420-45T=)
c.2484-45T=
c.4297-45T= (n.4297-45T=)
c.4453-45T= (n.4453-45T=)
12g.51790354T>GCA2618844435SCN8Ac.4420-44T>G (n.4420-44T>G)
c.2484-44T>G
c.4297-44T>G (n.4297-44T>G)
c.4453-44T>G (n.4453-44T>G)
 gnomAD v4
12g.51790357G>CCA689794284SCN8Ac.4420-41G>C (n.4420-41G>C)
c.2484-41G>C
c.4297-41G>C (n.4297-41G>C)
c.4453-41G>C (n.4453-41G>C)
 dbSNP gnomAD v4
12g.51790357G=CA2036173308SCN8Ac.4420-41G= (n.4420-41G=)
c.2484-41G=
c.4297-41G= (n.4297-41G=)
c.4453-41G= (n.4453-41G=)
12g.51790357G>TCA2542093000SCN8Ac.4420-41G>T (n.4420-41G>T)
c.2484-41G>T
c.4297-41G>T (n.4297-41G>T)
c.4453-41G>T (n.4453-41G>T)
 gnomAD v4
12g.51790359G>ACA6571812SCN8Ac.4420-39G>A (n.4420-39G>A)
c.2484-39G>A
c.4297-39G>A (n.4297-39G>A)
c.4453-39G>A (n.4453-39G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.51790359G=CA2036173309SCN8Ac.4420-39G= (n.4420-39G=)
c.2484-39G=
c.4297-39G= (n.4297-39G=)
c.4453-39G= (n.4453-39G=)
12g.51790359G>TCA2575160470SCN8Ac.4420-39G>T (n.4420-39G>T)
c.2484-39G>T
c.4297-39G>T (n.4297-39G>T)
c.4453-39G>T (n.4453-39G>T)
 gnomAD v4
12g.51790360C>ACA2575160471SCN8Ac.4420-38C>A (n.4420-38C>A)
c.2484-38C>A
c.4297-38C>A (n.4297-38C>A)
c.4453-38C>A (n.4453-38C>A)
 gnomAD v4
12g.51790361C>ACA2618844438SCN8Ac.4420-37C>A (n.4420-37C>A)
c.2484-37C>A
c.4297-37C>A (n.4297-37C>A)
c.4453-37C>A (n.4453-37C>A)
 gnomAD v4
12g.51790361C>GCA2618844440SCN8Ac.4420-37C>G (n.4420-37C>G)
c.2484-37C>G
c.4297-37C>G (n.4297-37C>G)
c.4453-37C>G (n.4453-37C>G)
 gnomAD v4
12g.51790364T>CCA2618844443SCN8Ac.4420-34T>C (n.4420-34T>C)
c.2484-34T>C
c.4297-34T>C (n.4297-34T>C)
c.4453-34T>C (n.4453-34T>C)
 gnomAD v4
12g.51790368A>GCA2618844444SCN8Ac.4420-30A>G (n.4420-30A>G)
c.2484-30A>G
c.4297-30A>G (n.4297-30A>G)
c.4453-30A>G (n.4453-30A>G)
 gnomAD v4
12g.51790370T>CCA2036173312SCN8Ac.4420-28T>C (n.4420-28T>C)
c.2484-28T>C
c.4297-28T>C (n.4297-28T>C)
c.4453-28T>C (n.4453-28T>C)
 dbSNP gnomAD v4
12g.51790370T>GCA6571813SCN8Ac.4420-28T>G (n.4420-28T>G)
c.2484-28T>G
c.4297-28T>G (n.4297-28T>G)
c.4453-28T>G (n.4453-28T>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.51790370T=CA2036173311SCN8Ac.4420-28T= (n.4420-28T=)
c.2484-28T=
c.4297-28T= (n.4297-28T=)
c.4453-28T= (n.4453-28T=)
12g.51790371T>CCA6571814SCN8Ac.4420-27T>C (n.4420-27T>C)
c.2484-27T>C
c.4297-27T>C (n.4297-27T>C)
c.4453-27T>C (n.4453-27T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.51790371T=CA2036173315SCN8Ac.4420-27T= (n.4420-27T=)
c.2484-27T=
c.4297-27T= (n.4297-27T=)
c.4453-27T= (n.4453-27T=)
12g.51790374_51790377delCA2618844466SCN8Ac.4420-24_4420-21del (n.4420-24_4420-21del)
c.2484-24_2484-21del
c.4297-24_4297-21del (n.4297-24_4297-21del)
c.4453-24_4453-21del (n.4453-24_4453-21del)
 gnomAD v4
12g.51790372G>ACA236329833SCN8Ac.4420-26G>A (n.4420-26G>A)
c.2484-26G>A
c.4297-26G>A (n.4297-26G>A)
c.4453-26G>A (n.4453-26G>A)
 dbSNP gnomAD v3 gnomAD v4
12g.51790372G=CA2036173318SCN8Ac.4420-26G= (n.4420-26G=)
c.2484-26G=
c.4297-26G= (n.4297-26G=)
c.4453-26G= (n.4453-26G=)
12g.51790373T>GCA2618844481SCN8Ac.4420-25T>G (n.4420-25T>G)
c.2484-25T>G
c.4297-25T>G (n.4297-25T>G)
c.4453-25T>G (n.4453-25T>G)
 gnomAD v4
12g.51790374C>ACA2618844487SCN8Ac.4420-24C>A (n.4420-24C>A)
c.2484-24C>A
c.4297-24C>A (n.4297-24C>A)
c.4453-24C>A (n.4453-24C>A)
 gnomAD v4
12g.51790374C=CA2036173324SCN8Ac.4420-24C= (n.4420-24C=)
c.2484-24C=
c.4297-24C= (n.4297-24C=)
c.4453-24C= (n.4453-24C=)
12g.51790374C>TCA605053195SCN8Ac.4420-24C>T (n.4420-24C>T)
c.2484-24C>T
c.4297-24C>T (n.4297-24C>T)
c.4453-24C>T (n.4453-24C>T)
 dbSNP gnomAD v2 gnomAD v4
12g.51790375T>ACA689794298SCN8Ac.4420-23T>A (n.4420-23T>A)
c.2484-23T>A
c.4297-23T>A (n.4297-23T>A)
c.4453-23T>A (n.4453-23T>A)
 dbSNP
12g.51790375T=CA2036173327SCN8Ac.4420-23T= (n.4420-23T=)
c.2484-23T=
c.4297-23T= (n.4297-23T=)
c.4453-23T= (n.4453-23T=)
12g.51790376G>ACA2510564917SCN8Ac.4420-22G>A (n.4420-22G>A)
c.2484-22G>A
c.4297-22G>A (n.4297-22G>A)
c.4453-22G>A (n.4453-22G>A)
 gnomAD v4
12g.51790379T>CCA2618844498SCN8Ac.4420-19T>C (n.4420-19T>C)
c.2484-19T>C
c.4297-19T>C (n.4297-19T>C)
c.4453-19T>C (n.4453-19T>C)
 gnomAD v4
12g.51790381C>ACA2618844502SCN8Ac.4420-17C>A (n.4420-17C>A)
c.2484-17C>A
c.4297-17C>A (n.4297-17C>A)
c.4453-17C>A (n.4453-17C>A)
 gnomAD v4
12g.51790381C>TCA2618844503SCN8Ac.4420-17C>T (n.4420-17C>T)
c.2484-17C>T
c.4297-17C>T (n.4297-17C>T)
c.4453-17C>T (n.4453-17C>T)
 dbSNP gnomAD v4
12g.51790382T>ACA6571815SCN8Ac.4420-16T>A (n.4420-16T>A)
c.2484-16T>A
c.4297-16T>A (n.4297-16T>A)
c.4453-16T>A (n.4453-16T>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51790382T=CA2036173333SCN8Ac.4420-16T= (n.4420-16T=)
c.2484-16T=
c.4297-16T= (n.4297-16T=)
c.4453-16T= (n.4453-16T=)
12g.51790383T>CCA2618844509SCN8Ac.4420-15T>C (n.4420-15T>C)
c.2484-15T>C
c.4297-15T>C (n.4297-15T>C)
c.4453-15T>C (n.4453-15T>C)
 gnomAD v4
12g.51790384C>ACA2618844515SCN8Ac.4420-14C>A (n.4420-14C>A)
c.2484-14C>A
c.4297-14C>A (n.4297-14C>A)
c.4453-14C>A (n.4453-14C>A)
 gnomAD v4
12g.51790384C>TCA2618844519SCN8Ac.4420-14C>T (n.4420-14C>T)
c.2484-14C>T
c.4297-14C>T (n.4297-14C>T)
c.4453-14C>T (n.4453-14C>T)
 gnomAD v4
12g.51790385T>CCA2618844524SCN8Ac.4420-13T>C (n.4420-13T>C)
c.2484-13T>C
c.4297-13T>C (n.4297-13T>C)
c.4453-13T>C (n.4453-13T>C)
 gnomAD v4
12g.51790386T>CCA605053200SCN8Ac.4420-12T>C (n.4420-12T>C)
c.2484-12T>C
c.4297-12T>C (n.4297-12T>C)
c.4453-12T>C (n.4453-12T>C)
 dbSNP gnomAD v2 gnomAD v4
12g.51790386T=CA2036173334SCN8Ac.4420-12T= (n.4420-12T=)
c.2484-12T=
c.4297-12T= (n.4297-12T=)
c.4453-12T= (n.4453-12T=)
12g.51790386_51790387delinsTCCA2036173336SCN8Ac.4420-12_4420-11delinsTC (n.4420-12_4420-11delinsTC)
c.2484-12_2484-11delinsTC
c.4297-12_4297-11delinsTC (n.4297-12_4297-11delinsTC)
c.4453-12_4453-11delinsTC (n.4453-12_4453-11delinsTC)
12g.51790387C>ACA2618844535SCN8Ac.4420-11C>A (n.4420-11C>A)
c.2484-11C>A
c.4297-11C>A (n.4297-11C>A)
c.4453-11C>A (n.4453-11C>A)
 gnomAD v4
12g.51790389delCA689794302SCN8Ac.4420-9del (n.4420-9del)
c.2484-9del
c.4297-9del (n.4297-9del)
c.4453-9del (n.4453-9del)
 dbSNP gnomAD v3 gnomAD v4
12g.51790389C>ACA2515161876SCN8Ac.4420-9C>A (n.4420-9C>A)
c.2484-9C>A
c.4297-9C>A (n.4297-9C>A)
c.4453-9C>A (n.4453-9C>A)
 gnomAD v4
12g.51790389C=CA2036173343SCN8Ac.4420-9C= (n.4420-9C=)
c.2484-9C=
c.4297-9C= (n.4297-9C=)
c.4453-9C= (n.4453-9C=)
12g.51790389C>TCA236329835SCN8Ac.4420-9C>T (n.4420-9C>T)
c.2484-9C>T
c.4297-9C>T (n.4297-9C>T)
c.4453-9C>T (n.4453-9C>T)
 ClinVar dbSNP gnomAD v4
12g.51790390T>CCA2618844547SCN8Ac.4420-8T>C (n.4420-8T>C)
c.2484-8T>C
c.4297-8T>C (n.4297-8T>C)
c.4453-8T>C (n.4453-8T>C)
 gnomAD v4
12g.51790391C=CA2036173344SCN8Ac.4420-7C= (n.4420-7C=)
c.2484-7C=
c.4297-7C= (n.4297-7C=)
c.4453-7C= (n.4453-7C=)
12g.51790391C>TCA2036173347SCN8Ac.4420-7C>T (n.4420-7C>T)
c.2484-7C>T
c.4297-7C>T (n.4297-7C>T)
c.4453-7C>T (n.4453-7C>T)
 dbSNP
12g.51790393T>GCA2618844554SCN8Ac.4420-5T>G (n.4420-5T>G)
c.2484-5T>G
c.4297-5T>G (n.4297-5T>G)
c.4453-5T>G (n.4453-5T>G)
 gnomAD v4
12g.51790395delCA2618844556SCN8Ac.4420-3del (n.4420-3del)
c.2484-3del
c.4297-3del (n.4297-3del)
c.4453-3del (n.4453-3del)
 gnomAD v4
12g.51790394T>CCA2575160472SCN8Ac.4420-4T>C (n.4420-4T>C)
c.2484-4T>C
c.4297-4T>C (n.4297-4T>C)
c.4453-4T>C (n.4453-4T>C)
12g.51790396A>CCA384908994SCN8Ac.4420-2A>C (n.4420-2A>C)
c.2484-2A>C
c.4297-2A>C (n.4297-2A>C)
c.4453-2A>C (n.4453-2A>C)
12g.51790396A>GCA384908995SCN8Ac.4420-2A>G (n.4420-2A>G)
c.2484-2A>G
c.4297-2A>G (n.4297-2A>G)
c.4453-2A>G (n.4453-2A>G)
12g.51790396A>TCA384908996SCN8Ac.4420-2A>T (n.4420-2A>T)
c.2484-2A>T
c.4297-2A>T (n.4297-2A>T)
c.4453-2A>T (n.4453-2A>T)
12g.51790397C>ACA6571816SCN8Ac.4420-1C>A (n.4420-1C>A)
c.2484-1C>A
c.4297-1C>A (n.4297-1C>A)
c.4453-1C>A (n.4453-1C>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51790397C=CA2036173352SCN8Ac.4420-1C= (n.4420-1C=)
c.2484-1C=
c.4297-1C= (n.4297-1C=)
c.4453-1C= (n.4453-1C=)
12g.51790397C>GCA384908997SCN8Ac.4420-1C>G (n.4420-1C>G)
c.2484-1C>G
c.4297-1C>G (n.4297-1C>G)
c.4453-1C>G (n.4453-1C>G)
 gnomAD v4
12g.51790397C>TCA384908998SCN8Ac.4420-1C>T (n.4420-1C>T)
c.2484-1C>T
c.4297-1C>T (n.4297-1C>T)
c.4453-1C>T (n.4453-1C>T)
12g.51790398T>ACA384909000SCN8Ac.4420T>A (p.Phe1474Ile)
c.2484T>A
c.4297T>A (p.Phe1433Ile)
c.4453T>A (p.Phe1485Ile)
12g.51790398T>CCA384909001SCN8Ac.4420T>C (p.Phe1474Leu)
c.2484T>C
c.4297T>C (p.Phe1433Leu)
c.4453T>C (p.Phe1485Leu)
 gnomAD v4
12g.51790398T>GCA384908999SCN8Ac.4420T>G (p.Phe1474Val)
c.2484T>G
c.4297T>G (p.Phe1433Val)
c.4453T>G (p.Phe1485Val)
12g.51790399T>ACA384909004SCN8Ac.4421T>A (p.Phe1474Tyr)
c.2485T>A
c.4298T>A (p.Phe1433Tyr)
c.4454T>A (p.Phe1485Tyr)
12g.51790399T>CCA384909002SCN8Ac.4421T>C (p.Phe1474Ser)
c.2485T>C
c.4298T>C (p.Phe1433Ser)
c.4454T>C (p.Phe1485Ser)
12g.51790399T>GCA384909003SCN8Ac.4421T>G (p.Phe1474Cys)
c.2485T>G
c.4298T>G (p.Phe1433Cys)
c.4454T>G (p.Phe1485Cys)
12g.51790400C>ACA384909005SCN8Ac.4422C>A (p.Phe1474Leu)
c.2486C>A
c.4299C>A (p.Phe1433Leu)
c.4455C>A (p.Phe1485Leu)
12g.51790400C=CA2036173357SCN8Ac.4422C= (p.Phe1474=)
c.2486C=
c.4299C= (p.Phe1433=)
c.4455C= (p.Phe1485=)
12g.51790400C>GCA384909006SCN8Ac.4422C>G (p.Phe1474Leu)
c.2486C>G
c.4299C>G (p.Phe1433Leu)
c.4455C>G (p.Phe1485Leu)
 gnomAD v4
12g.51790400C>TCA6571817SCN8Ac.4422C>T (p.Phe1474=)
c.2486C>T
c.4299C>T (p.Phe1433=)
c.4455C>T (p.Phe1485=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
12g.51790401G>ACA318276SCN8Ac.4423G>A (p.Gly1475Arg)
c.2487G>A
c.4300G>A (p.Gly1434Arg)
c.4456G>A (p.Gly1486Arg)
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC
12g.51790401G>CCA384909007SCN8Ac.4423G>C (p.Gly1475Arg)
c.2487G>C
c.4300G>C (p.Gly1434Arg)
c.4456G>C (p.Gly1486Arg)
 ClinVar dbSNP
12g.51790401G=CA2036173366SCN8Ac.4423G= (p.Gly1475=)
c.2487G=
c.4300G= (p.Gly1434=)
c.4456G= (p.Gly1486=)
12g.51790401G>TCA384909008SCN8Ac.4423G>T (p.Gly1475Ter)
c.2487G>T
c.4300G>T (p.Gly1434Ter)
c.4456G>T (p.Gly1486Ter)
 dbSNP
12g.51790402G>ACA384909009SCN8Ac.4424G>A (p.Gly1475Glu)
c.2488G>A
c.4301G>A (p.Gly1434Glu)
c.4457G>A (p.Gly1486Glu)
12g.51790402G>CCA384909010SCN8Ac.4424G>C (p.Gly1475Ala)
c.2488G>C
c.4301G>C (p.Gly1434Ala)
c.4457G>C (p.Gly1486Ala)
12g.51790402G>TCA384909011SCN8Ac.4424G>T (p.Gly1475Val)
c.2488G>T
c.4301G>T (p.Gly1434Val)
c.4457G>T (p.Gly1486Val)
 gnomAD v4
12g.51790403A>CCA479795108SCN8Ac.4425A>C (p.Gly1475=)
c.2489A>C
c.4302A>C (p.Gly1434=)
c.4458A>C (p.Gly1486=)
12g.51790403A>GCA479795109SCN8Ac.4425A>G (p.Gly1475=)
c.2489A>G
c.4302A>G (p.Gly1434=)
c.4458A>G (p.Gly1486=)
12g.51790403A>TCA479795110SCN8Ac.4425A>T (p.Gly1475=)
c.2489A>T
c.4302A>T (p.Gly1434=)
c.4458A>T (p.Gly1486=)
12g.51790404G>ACA16619563SCN8Ac.4426G>A (p.Gly1476Ser)
c.2490G>A
c.4303G>A (p.Gly1435Ser)
c.4459G>A (p.Gly1487Ser)
 ClinVar dbSNP
12g.51790404G>CCA384909013SCN8Ac.4426G>C (p.Gly1476Arg)
c.2490G>C
c.4303G>C (p.Gly1435Arg)
c.4459G>C (p.Gly1487Arg)
12g.51790404G=CA2036173375SCN8Ac.4426G= (p.Gly1476=)
c.2490G=
c.4303G= (p.Gly1435=)
c.4459G= (p.Gly1487=)
12g.51790404G>TCA384909012SCN8Ac.4426G>T (p.Gly1476Cys)
c.2490G>T
c.4303G>T (p.Gly1435Cys)
c.4459G>T (p.Gly1487Cys)
 ClinVar gnomAD v4
12g.51790405G>ACA384909014SCN8Ac.4427G>A (p.Gly1476Asp)
c.2491G>A
c.4304G>A (p.Gly1435Asp)
c.4460G>A (p.Gly1487Asp)
 ClinVar
12g.51790405G>CCA384909015SCN8Ac.4427G>C (p.Gly1476Ala)
c.2491G>C
c.4304G>C (p.Gly1435Ala)
c.4460G>C (p.Gly1487Ala)
12g.51790405G>TCA384909016SCN8Ac.4427G>T (p.Gly1476Val)
c.2491G>T
c.4304G>T (p.Gly1435Val)
c.4460G>T (p.Gly1487Val)
12g.51790406T>ACA479795112SCN8Ac.4428T>A (p.Gly1476=)
c.2492T>A
c.4305T>A (p.Gly1435=)
c.4461T>A (p.Gly1487=)
12g.51790406T>CCA479795113SCN8Ac.4428T>C (p.Gly1476=)
c.2492T>C
c.4305T>C (p.Gly1435=)
c.4461T>C (p.Gly1487=)
12g.51790406T>GCA479795114SCN8Ac.4428T>G (p.Gly1476=)
c.2492T>G
c.4305T>G (p.Gly1435=)
c.4461T>G (p.Gly1487=)
12g.51790407C>ACA384909017SCN8Ac.4429C>A (p.Gln1477Lys)
c.2493C>A
c.4306C>A (p.Gln1436Lys)
c.4462C>A (p.Gln1488Lys)
12g.51790407C=CA2036173380SCN8Ac.4429C= (p.Gln1477=)
c.2493C=
c.4306C= (p.Gln1436=)
c.4462C= (p.Gln1488=)
12g.51790407C>GCA384909018SCN8Ac.4429C>G (p.Gln1477Glu)
c.2493C>G
c.4306C>G (p.Gln1436Glu)
c.4462C>G (p.Gln1488Glu)
12g.51790407C>TCA384909019SCN8Ac.4429C>T (p.Gln1477Ter)
c.2493C>T
c.4306C>T (p.Gln1436Ter)
c.4462C>T (p.Gln1488Ter)
 dbSNP
12g.51790408A>CCA384909020SCN8Ac.4430A>C (p.Gln1477Pro)
c.2494A>C
c.4307A>C (p.Gln1436Pro)
c.4463A>C (p.Gln1488Pro)
12g.51790408A>GCA384909021SCN8Ac.4430A>G (p.Gln1477Arg)
c.2494A>G
c.4307A>G (p.Gln1436Arg)
c.4463A>G (p.Gln1488Arg)
12g.51790408A>TCA384909022SCN8Ac.4430A>T (p.Gln1477Leu)
c.2494A>T
c.4307A>T (p.Gln1436Leu)
c.4463A>T (p.Gln1488Leu)
12g.51790409G>ACA6571818SCN8Ac.4431G>A (p.Gln1477=)
c.2495G>A
c.4308G>A (p.Gln1436=)
c.4464G>A (p.Gln1488=)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.51790409G>CCA384909023SCN8Ac.4431G>C (p.Gln1477His)
c.2495G>C
c.4308G>C (p.Gln1436His)
c.4464G>C (p.Gln1488His)
12g.51790409G=CA2036173383SCN8Ac.4431G= (p.Gln1477=)
c.2495G=
c.4308G= (p.Gln1436=)
c.4464G= (p.Gln1488=)
12g.51790409G>TCA384909024SCN8Ac.4431G>T (p.Gln1477His)
c.2495G>T
c.4308G>T (p.Gln1436His)
c.4464G>T (p.Gln1488His)
12g.51790410G>ACA384909026SCN8Ac.4432G>A (p.Asp1478Asn)
c.2496G>A
c.4309G>A (p.Asp1437Asn)
c.4465G>A (p.Asp1489Asn)
 ClinVar dbSNP
12g.51790410G>CCA384909027SCN8Ac.4432G>C (p.Asp1478His)
c.2496G>C
c.4309G>C (p.Asp1437His)
c.4465G>C (p.Asp1489His)
12g.51790410G>TCA384909025SCN8Ac.4432G>T (p.Asp1478Tyr)
c.2496G>T
c.4309G>T (p.Asp1437Tyr)
c.4465G>T (p.Asp1489Tyr)
12g.51790411A>CCA384909028SCN8Ac.4433A>C (p.Asp1478Ala)
c.2497A>C
c.4310A>C (p.Asp1437Ala)
c.4466A>C (p.Asp1489Ala)
12g.51790411A>GCA384909029SCN8Ac.4433A>G (p.Asp1478Gly)
c.2497A>G
c.4310A>G (p.Asp1437Gly)
c.4466A>G (p.Asp1489Gly)
12g.51790411A>TCA384909030SCN8Ac.4433A>T (p.Asp1478Val)
c.2497A>T
c.4310A>T (p.Asp1437Val)
c.4466A>T (p.Asp1489Val)
12g.51790412C>ACA384909031SCN8Ac.4434C>A (p.Asp1478Glu)
c.2498C>A
c.4311C>A (p.Asp1437Glu)
c.4467C>A (p.Asp1489Glu)
12g.51790412C>GCA384909032SCN8Ac.4434C>G (p.Asp1478Glu)
c.2498C>G
c.4311C>G (p.Asp1437Glu)
c.4467C>G (p.Asp1489Glu)
12g.51790412C>TCA479795116SCN8Ac.4434C>T (p.Asp1478=)
c.2498C>T
c.4311C>T (p.Asp1437=)
c.4467C>T (p.Asp1489=)
12g.51790413A=CA2036173427SCN8Ac.4435A= (p.Ile1479=)
c.2499A=
c.4312A= (p.Ile1438=)
c.4468A= (p.Ile1490=)
12g.51790413A>CCA384909033SCN8Ac.4435A>C (p.Ile1479Leu)
c.2499A>C
c.4312A>C (p.Ile1438Leu)
c.4468A>C (p.Ile1490Leu)
 ClinVar dbSNP
12g.51790413A>GCA318278SCN8Ac.4435A>G (p.Ile1479Val)
c.2499A>G
c.4312A>G (p.Ile1438Val)
c.4468A>G (p.Ile1490Val)
 ClinVar dbSNP
12g.51790413A>TCA384909034SCN8Ac.4435A>T (p.Ile1479Phe)
c.2499A>T
c.4312A>T (p.Ile1438Phe)
c.4468A>T (p.Ile1490Phe)
12g.51790414T>ACA384909035SCN8Ac.4436T>A (p.Ile1479Asn)
c.2500T>A
c.4313T>A (p.Ile1438Asn)
c.4469T>A (p.Ile1490Asn)
12g.51790414T>CCA384909036SCN8Ac.4436T>C (p.Ile1479Thr)
c.2500T>C
c.4313T>C (p.Ile1438Thr)
c.4469T>C (p.Ile1490Thr)
 ClinVar dbSNP
12g.51790414T>GCA384909037SCN8Ac.4436T>G (p.Ile1479Ser)
c.2500T>G
c.4313T>G (p.Ile1438Ser)
c.4469T>G (p.Ile1490Ser)
12g.51790414T=CA2036173436SCN8Ac.4436T= (p.Ile1479=)
c.2500T=
c.4313T= (p.Ile1438=)
c.4469T= (p.Ile1490=)
12g.51790415C>ACA479795117SCN8Ac.4437C>A (p.Ile1479=)
c.2501C>A
c.4314C>A (p.Ile1438=)
c.4470C>A (p.Ile1490=)
 gnomAD v4
12g.51790415C>GCA384909038SCN8Ac.4437C>G (p.Ile1479Met)
c.2501C>G
c.4314C>G (p.Ile1438Met)
c.4470C>G (p.Ile1490Met)
12g.51790415C>TCA479795118SCN8Ac.4437C>T (p.Ile1479=)
c.2501C>T
c.4314C>T (p.Ile1438=)
c.4470C>T (p.Ile1490=)
 ClinVar
12g.51790416T>ACA16606654SCN8Ac.4438T>A (p.Phe1480Ile)
c.2502T>A
c.4315T>A (p.Phe1439Ile)
c.4471T>A (p.Phe1491Ile)
 ClinVar dbSNP
12g.51790416T>CCA318280SCN8Ac.4438T>C (p.Phe1480Leu)
c.2502T>C
c.4315T>C (p.Phe1439Leu)
c.4471T>C (p.Phe1491Leu)
 ClinVar dbSNP
12g.51790416T>GCA384909039SCN8Ac.4438T>G (p.Phe1480Val)
c.2502T>G
c.4315T>G (p.Phe1439Val)
c.4471T>G (p.Phe1491Val)
 ClinVar
12g.51790416T=CA2036173444SCN8Ac.4438T= (p.Phe1480=)
c.2502T=
c.4315T= (p.Phe1439=)
c.4471T= (p.Phe1491=)
12g.51790417T>ACA384909040SCN8Ac.4439T>A (p.Phe1480Tyr)
c.2503T>A
c.4316T>A (p.Phe1439Tyr)
c.4472T>A (p.Phe1491Tyr)
12g.51790417T>CCA384909041SCN8Ac.4439T>C (p.Phe1480Ser)
c.2503T>C
c.4316T>C (p.Phe1439Ser)
c.4472T>C (p.Phe1491Ser)
12g.51790417T>GCA384909042SCN8Ac.4439T>G (p.Phe1480Cys)
c.2503T>G
c.4316T>G (p.Phe1439Cys)
c.4472T>G (p.Phe1491Cys)
12g.51790418C>ACA384909043SCN8Ac.4440C>A (p.Phe1480Leu)
c.2504C>A
c.4317C>A (p.Phe1439Leu)
c.4473C>A (p.Phe1491Leu)
12g.51790418C>GCA384909044SCN8Ac.4440C>G (p.Phe1480Leu)
c.2504C>G
c.4317C>G (p.Phe1439Leu)
c.4473C>G (p.Phe1491Leu)
12g.51790418C>TCA479795119SCN8Ac.4440C>T (p.Phe1480=)
c.2504C>T
c.4317C>T (p.Phe1439=)
c.4473C>T (p.Phe1491=)
 gnomAD v4
12g.51790419A=CA2036173454SCN8Ac.4441A= (p.Met1481=)
c.2505A=
c.4318A= (p.Met1440=)
c.4474A= (p.Met1492=)
12g.51790419A>CCA384909046SCN8Ac.4441A>C (p.Met1481Leu)
c.2505A>C
c.4318A>C (p.Met1440Leu)
c.4474A>C (p.Met1492Leu)
12g.51790419A>GCA10603278SCN8Ac.4441A>G (p.Met1481Val)
c.2505A>G
c.4318A>G (p.Met1440Val)
c.4474A>G (p.Met1492Val)
 ClinVar dbSNP
12g.51790419A>TCA384909045SCN8Ac.4441A>T (p.Met1481Leu)
c.2505A>T
c.4318A>T (p.Met1440Leu)
c.4474A>T (p.Met1492Leu)
 gnomAD v4
12g.51790420T>ACA318282SCN8Ac.4442T>A (p.Met1481Lys)
c.2506T>A
c.4319T>A (p.Met1440Lys)
c.4475T>A (p.Met1492Lys)
 dbSNP
12g.51790420T>CCA384909047SCN8Ac.4442T>C (p.Met1481Thr)
c.2506T>C
c.4319T>C (p.Met1440Thr)
c.4475T>C (p.Met1492Thr)
12g.51790420T>GCA384909048SCN8Ac.4442T>G (p.Met1481Arg)
c.2506T>G
c.4319T>G (p.Met1440Arg)
c.4475T>G (p.Met1492Arg)
12g.51790420T=CA2036173460SCN8Ac.4442T= (p.Met1481=)
c.2506T=
c.4319T= (p.Met1440=)
c.4475T= (p.Met1492=)
12g.51790421G>ACA384909049SCN8Ac.4443G>A (p.Met1481Ile)
c.2507G>A
c.4320G>A (p.Met1440Ile)
c.4476G>A (p.Met1492Ile)
12g.51790421G>CCA384909050SCN8Ac.4443G>C (p.Met1481Ile)
c.2507G>C
c.4320G>C (p.Met1440Ile)
c.4476G>C (p.Met1492Ile)
12g.51790421G>TCA384909051SCN8Ac.4443G>T (p.Met1481Ile)
c.2507G>T
c.4320G>T (p.Met1440Ile)
c.4476G>T (p.Met1492Ile)
 dbSNP gnomAD v4
12g.51790421_51790422delinsTCA2695216830SCN8Ac.4443_4444delinsT (p.Met1481IlefsTer12)
c.2507_2508delinsT
c.4320_4321delinsT (p.Met1440IlefsTer12)
c.4476_4477delinsT (p.Met1492IlefsTer12)
12g.51790421_51790422delinsGACA2036173463SCN8Ac.4443_4444delinsGA (p.Met1481=)
c.2507_2508delinsGA
c.4320_4321delinsGA (p.Met1440=)
c.4476_4477delinsGA (p.Met1492=)
12g.51790421_51790422delinsTGCA916083312SCN8Ac.4443_4444delinsTG (p.Met1481_Thr1482delinsIleAla)
c.2507_2508delinsTG
c.4320_4321delinsTG (p.Met1440_Thr1441delinsIleAla)
c.4476_4477delinsTG (p.Met1492_Thr1493delinsIleAla)
 ClinVar dbSNP
12g.51790422A>CCA384909054SCN8Ac.4444A>C (p.Thr1482Pro)
c.2508A>C
c.4321A>C (p.Thr1441Pro)
c.4477A>C (p.Thr1493Pro)
12g.51790422A>GCA384909053SCN8Ac.4444A>G (p.Thr1482Ala)
c.2508A>G
c.4321A>G (p.Thr1441Ala)
c.4477A>G (p.Thr1493Ala)
 ClinVar
12g.51790422A>TCA384909052SCN8Ac.4444A>T (p.Thr1482Ser)
c.2508A>T
c.4321A>T (p.Thr1441Ser)
c.4477A>T (p.Thr1493Ser)
12g.51790423C>ACA384909055SCN8Ac.4445C>A (p.Thr1482Asn)
c.2509C>A
c.4322C>A (p.Thr1441Asn)
c.4478C>A (p.Thr1493Asn)
 ClinVar
12g.51790423C>GCA384909057SCN8Ac.4445C>G (p.Thr1482Ser)
c.2509C>G
c.4322C>G (p.Thr1441Ser)
c.4478C>G (p.Thr1493Ser)
12g.51790423C>TCA384909056SCN8Ac.4445C>T (p.Thr1482Ile)
c.2509C>T
c.4322C>T (p.Thr1441Ile)
c.4478C>T (p.Thr1493Ile)
12g.51790424C>ACA479795120SCN8Ac.4446C>A (p.Thr1482=)
c.2510C>A
c.4323C>A (p.Thr1441=)
c.4479C>A (p.Thr1493=)
 gnomAD v4
12g.51790424C=CA2036173467SCN8Ac.4446C= (p.Thr1482=)
c.2510C=
c.4323C= (p.Thr1441=)
c.4479C= (p.Thr1493=)
12g.51790424C>GCA479795121SCN8Ac.4446C>G (p.Thr1482=)
c.2510C>G
c.4323C>G (p.Thr1441=)
c.4479C>G (p.Thr1493=)
12g.51790424C>TCA6571819SCN8Ac.4446C>T (p.Thr1482=)
c.2510C>T
c.4323C>T (p.Thr1441=)
c.4479C>T (p.Thr1493=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51790425G>ACA10586233SCN8Ac.4447G>A (p.Glu1483Lys)
c.2511G>A
c.4324G>A (p.Glu1442Lys)
c.4480G>A (p.Glu1494Lys)
 ClinVar dbSNP gnomAD v4
12g.51790425G>CCA384909058SCN8Ac.4447G>C (p.Glu1483Gln)
c.2511G>C
c.4324G>C (p.Glu1442Gln)
c.4480G>C (p.Glu1494Gln)
12g.51790425G=CA2036173471SCN8Ac.4447G= (p.Glu1483=)
c.2511G=
c.4324G= (p.Glu1442=)
c.4480G= (p.Glu1494=)
12g.51790425G>TCA384909059SCN8Ac.4447G>T (p.Glu1483Ter)
c.2511G>T
c.4324G>T (p.Glu1442Ter)
c.4480G>T (p.Glu1494Ter)
 dbSNP
12g.51790426A>CCA384909060SCN8Ac.4448A>C (p.Glu1483Ala)
c.2512A>C
c.4325A>C (p.Glu1442Ala)
c.4481A>C (p.Glu1494Ala)
12g.51790426A>GCA384909061SCN8Ac.4448A>G (p.Glu1483Gly)
c.2512A>G
c.4325A>G (p.Glu1442Gly)
c.4481A>G (p.Glu1494Gly)
12g.51790426A>TCA384909062SCN8Ac.4448A>T (p.Glu1483Val)
c.2512A>T
c.4325A>T (p.Glu1442Val)
c.4481A>T (p.Glu1494Val)
12g.51790427A>CCA384909063SCN8Ac.4449A>C (p.Glu1483Asp)
c.2513A>C
c.4326A>C (p.Glu1442Asp)
c.4482A>C (p.Glu1494Asp)
 ClinVar
12g.51790427A>GCA479795122SCN8Ac.4449A>G (p.Glu1483=)
c.2513A>G
c.4326A>G (p.Glu1442=)
c.4482A>G (p.Glu1494=)
12g.51790427A>TCA384909064SCN8Ac.4449A>T (p.Glu1483Asp)
c.2513A>T
c.4326A>T (p.Glu1442Asp)
c.4482A>T (p.Glu1494Asp)
12g.51790428G>ACA384909065SCN8Ac.4450G>A (p.Glu1484Lys)
c.2514G>A
c.4327G>A (p.Glu1443Lys)
c.4483G>A (p.Glu1495Lys)
12g.51790428G>CCA384909066SCN8Ac.4450G>C (p.Glu1484Gln)
c.2514G>C
c.4327G>C (p.Glu1443Gln)
c.4483G>C (p.Glu1495Gln)
12g.51790428G=CA2036173475SCN8Ac.4450G= (p.Glu1484=)
c.2514G=
c.4327G= (p.Glu1443=)
c.4483G= (p.Glu1495=)
12g.51790428G>TCA384909067SCN8Ac.4450G>T (p.Glu1484Ter)
c.2514G>T
c.4327G>T (p.Glu1443Ter)
c.4483G>T (p.Glu1495Ter)
 dbSNP
12g.51790429A>CCA384909068SCN8Ac.4451A>C (p.Glu1484Ala)
c.2515A>C
c.4328A>C (p.Glu1443Ala)
c.4484A>C (p.Glu1495Ala)
12g.51790429A>GCA384909069SCN8Ac.4451A>G (p.Glu1484Gly)
c.2515A>G
c.4328A>G (p.Glu1443Gly)
c.4484A>G (p.Glu1495Gly)
12g.51790429A>TCA384909070SCN8Ac.4451A>T (p.Glu1484Val)
c.2515A>T
c.4328A>T (p.Glu1443Val)
c.4484A>T (p.Glu1495Val)

Number of alleles fetched