Chr Mutation (hg38) CAid Gene Transcript Linkouts
18g.53385998A=CA2304129458DCCc.2360-45A= (n.2360-45A=)
c.2161-45A=
c.2291-45A= (n.2291-45A=)
c.1325-45A= (n.1325-45A=)
18g.53385998A>GCA629948263DCCc.2360-45A>G (n.2360-45A>G)
c.2161-45A>G
c.2291-45A>G (n.2291-45A>G)
c.1325-45A>G (n.1325-45A>G)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
18g.53386000T>CCA2641857344DCCc.2360-43T>C (n.2360-43T>C)
c.2161-43T>C
c.2291-43T>C (n.2291-43T>C)
c.1325-43T>C (n.1325-43T>C)
 gnomAD v4
18g.53386000T>GCA2576506826DCCc.2360-43T>G (n.2360-43T>G)
c.2161-43T>G
c.2291-43T>G (n.2291-43T>G)
c.1325-43T>G (n.1325-43T>G)
18g.53386001A>TCA2576506827DCCc.2360-42A>T (n.2360-42A>T)
c.2161-42A>T
c.2291-42A>T (n.2291-42A>T)
c.1325-42A>T (n.1325-42A>T)
 gnomAD v4
18g.53386002A>TCA2641857345DCCc.2360-41A>T (n.2360-41A>T)
c.2161-41A>T
c.2291-41A>T (n.2291-41A>T)
c.1325-41A>T (n.1325-41A>T)
 gnomAD v4
18g.53386003A>GCA2576506828DCCc.2360-40A>G (n.2360-40A>G)
c.2161-40A>G
c.2291-40A>G (n.2291-40A>G)
c.1325-40A>G (n.1325-40A>G)
 gnomAD v4
18g.53386004T>ACA629948264DCCc.2360-39T>A (n.2360-39T>A)
c.2161-39T>A
c.2291-39T>A (n.2291-39T>A)
c.1325-39T>A (n.1325-39T>A)
 dbSNP gnomAD v2 gnomAD v4
18g.53386004T>CCA8967174DCCc.2360-39T>C (n.2360-39T>C)
c.2161-39T>C
c.2291-39T>C (n.2291-39T>C)
c.1325-39T>C (n.1325-39T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.53386004T=CA2304129459DCCc.2360-39T= (n.2360-39T=)
c.2161-39T=
c.2291-39T= (n.2291-39T=)
c.1325-39T= (n.1325-39T=)
18g.53386005A=CA2304129460DCCc.2360-38A= (n.2360-38A=)
c.2161-38A=
c.2291-38A= (n.2291-38A=)
c.1325-38A= (n.1325-38A=)
18g.53386005A>GCA629948271DCCc.2360-38A>G (n.2360-38A>G)
c.2161-38A>G
c.2291-38A>G (n.2291-38A>G)
c.1325-38A>G (n.1325-38A>G)
 dbSNP gnomAD v2 gnomAD v4
18g.53386006T>CCA629948272DCCc.2360-37T>C (n.2360-37T>C)
c.2161-37T>C
c.2291-37T>C (n.2291-37T>C)
c.1325-37T>C (n.1325-37T>C)
 dbSNP gnomAD v2 gnomAD v4
18g.53386006T=CA2304129461DCCc.2360-37T= (n.2360-37T=)
c.2161-37T=
c.2291-37T= (n.2291-37T=)
c.1325-37T= (n.1325-37T=)
18g.53386007A>GCA2641857346DCCc.2360-36A>G (n.2360-36A>G)
c.2161-36A>G
c.2291-36A>G (n.2291-36A>G)
c.1325-36A>G (n.1325-36A>G)
 gnomAD v4
18g.53386007A>TCA2641857347DCCc.2360-36A>T (n.2360-36A>T)
c.2161-36A>T
c.2291-36A>T (n.2291-36A>T)
c.1325-36A>T (n.1325-36A>T)
 gnomAD v4
18g.53386008T>ACA2641857348DCCc.2360-35T>A (n.2360-35T>A)
c.2161-35T>A
c.2291-35T>A (n.2291-35T>A)
c.1325-35T>A (n.1325-35T>A)
 gnomAD v4
18g.53386008T>CCA780418969DCCc.2360-35T>C (n.2360-35T>C)
c.2161-35T>C
c.2291-35T>C (n.2291-35T>C)
c.1325-35T>C (n.1325-35T>C)
 dbSNP gnomAD v3 gnomAD v4
18g.53386008T=CA2304129462DCCc.2360-35T= (n.2360-35T=)
c.2161-35T=
c.2291-35T= (n.2291-35T=)
c.1325-35T= (n.1325-35T=)
18g.53386009C>ACA2641857349DCCc.2360-34C>A (n.2360-34C>A)
c.2161-34C>A
c.2291-34C>A (n.2291-34C>A)
c.1325-34C>A (n.1325-34C>A)
 gnomAD v4
18g.53386009C>TCA2576506829DCCc.2360-34C>T (n.2360-34C>T)
c.2161-34C>T
c.2291-34C>T (n.2291-34C>T)
c.1325-34C>T (n.1325-34C>T)
 gnomAD v4
18g.53386011A>GCA2641857350DCCc.2360-32A>G (n.2360-32A>G)
c.2161-32A>G
c.2291-32A>G (n.2291-32A>G)
c.1325-32A>G (n.1325-32A>G)
 gnomAD v4
18g.53386012C>ACA2641857351DCCc.2360-31C>A (n.2360-31C>A)
c.2161-31C>A
c.2291-31C>A (n.2291-31C>A)
c.1325-31C>A (n.1325-31C>A)
 gnomAD v4
18g.53386013A>GCA2641857352DCCc.2360-30A>G (n.2360-30A>G)
c.2161-30A>G
c.2291-30A>G (n.2291-30A>G)
c.1325-30A>G (n.1325-30A>G)
 gnomAD v4
18g.53386014C>ACA2576506830DCCc.2360-29C>A (n.2360-29C>A)
c.2161-29C>A
c.2291-29C>A (n.2291-29C>A)
c.1325-29C>A (n.1325-29C>A)
 gnomAD v4
18g.53386014C=CA2304129464DCCc.2360-29C= (n.2360-29C=)
c.2161-29C=
c.2291-29C= (n.2291-29C=)
c.1325-29C= (n.1325-29C=)
18g.53386014C>TCA2304129463DCCc.2360-29C>T (n.2360-29C>T)
c.2161-29C>T
c.2291-29C>T (n.2291-29C>T)
c.1325-29C>T (n.1325-29C>T)
 dbSNP gnomAD v4
18g.53386014_53386015delCA2641857353DCCc.2360-29_2360-28del (n.2360-29_2360-28del)
c.2161-29_2161-28del
c.2291-29_2291-28del (n.2291-29_2291-28del)
c.1325-29_1325-28del (n.1325-29_1325-28del)
 gnomAD v4
18g.53386015G>ACA8967175DCCc.2360-28G>A (n.2360-28G>A)
c.2161-28G>A
c.2291-28G>A (n.2291-28G>A)
c.1325-28G>A (n.1325-28G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.53386015G=CA2304129465DCCc.2360-28G= (n.2360-28G=)
c.2161-28G=
c.2291-28G= (n.2291-28G=)
c.1325-28G= (n.1325-28G=)
18g.53386015G>TCA2641857354DCCc.2360-28G>T (n.2360-28G>T)
c.2161-28G>T
c.2291-28G>T (n.2291-28G>T)
c.1325-28G>T (n.1325-28G>T)
 gnomAD v4
18g.53386017T>CCA2641857355DCCc.2360-26T>C (n.2360-26T>C)
c.2161-26T>C
c.2291-26T>C (n.2291-26T>C)
c.1325-26T>C (n.1325-26T>C)
 gnomAD v4
18g.53386018C>ACA2641857357DCCc.2360-25C>A (n.2360-25C>A)
c.2161-25C>A
c.2291-25C>A (n.2291-25C>A)
c.1325-25C>A (n.1325-25C>A)
 gnomAD v4
18g.53386018C>TCA2641857356DCCc.2360-25C>T (n.2360-25C>T)
c.2161-25C>T
c.2291-25C>T (n.2291-25C>T)
c.1325-25C>T (n.1325-25C>T)
 gnomAD v4
18g.53386019A=CA2304129466DCCc.2360-24A= (n.2360-24A=)
c.2161-24A=
c.2291-24A= (n.2291-24A=)
c.1325-24A= (n.1325-24A=)
18g.53386019A>GCA300690549DCCc.2360-24A>G (n.2360-24A>G)
c.2161-24A>G
c.2291-24A>G (n.2291-24A>G)
c.1325-24A>G (n.1325-24A>G)
 dbSNP gnomAD v4
18g.53386020T>CCA2641857358DCCc.2360-23T>C (n.2360-23T>C)
c.2161-23T>C
c.2291-23T>C (n.2291-23T>C)
c.1325-23T>C (n.1325-23T>C)
 gnomAD v4
18g.53386021A>TCA2641857359DCCc.2360-22A>T (n.2360-22A>T)
c.2161-22A>T
c.2291-22A>T (n.2291-22A>T)
c.1325-22A>T (n.1325-22A>T)
 gnomAD v4
18g.53386022T>CCA2641857360DCCc.2360-21T>C (n.2360-21T>C)
c.2161-21T>C
c.2291-21T>C (n.2291-21T>C)
c.1325-21T>C (n.1325-21T>C)
 gnomAD v4
18g.53386022T>GCA2641857361DCCc.2360-21T>G (n.2360-21T>G)
c.2161-21T>G
c.2291-21T>G (n.2291-21T>G)
c.1325-21T>G (n.1325-21T>G)
 gnomAD v4
18g.53386023T>ACA629948277DCCc.2360-20T>A (n.2360-20T>A)
c.2161-20T>A
c.2291-20T>A (n.2291-20T>A)
c.1325-20T>A (n.1325-20T>A)
 dbSNP gnomAD v2 gnomAD v4
18g.53386023T>CCA629948280DCCc.2360-20T>C (n.2360-20T>C)
c.2161-20T>C
c.2291-20T>C (n.2291-20T>C)
c.1325-20T>C (n.1325-20T>C)
 dbSNP gnomAD v2 gnomAD v4
18g.53386023T=CA2304129467DCCc.2360-20T= (n.2360-20T=)
c.2161-20T=
c.2291-20T= (n.2291-20T=)
c.1325-20T= (n.1325-20T=)
18g.53386024G=CA2304129468DCCc.2360-19G= (n.2360-19G=)
c.2161-19G=
c.2291-19G= (n.2291-19G=)
c.1325-19G= (n.1325-19G=)
18g.53386024G>TCA629948285DCCc.2360-19G>T (n.2360-19G>T)
c.2161-19G>T
c.2291-19G>T (n.2291-19G>T)
c.1325-19G>T (n.1325-19G>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.53386025T>CCA629948287DCCc.2360-18T>C (n.2360-18T>C)
c.2161-18T>C
c.2291-18T>C (n.2291-18T>C)
c.1325-18T>C (n.1325-18T>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.53386025T>GCA2641857362DCCc.2360-18T>G (n.2360-18T>G)
c.2161-18T>G
c.2291-18T>G (n.2291-18T>G)
c.1325-18T>G (n.1325-18T>G)
 gnomAD v4
18g.53386025T=CA2304129469DCCc.2360-18T= (n.2360-18T=)
c.2161-18T=
c.2291-18T= (n.2291-18T=)
c.1325-18T= (n.1325-18T=)
18g.53386027delCA2576506831DCCc.2360-16del (n.2360-16del)
c.2161-16del
c.2291-16del (n.2291-16del)
c.1325-16del (n.1325-16del)
18g.53386026T>CCA2641857363DCCc.2360-17T>C (n.2360-17T>C)
c.2161-17T>C
c.2291-17T>C (n.2291-17T>C)
c.1325-17T>C (n.1325-17T>C)
 gnomAD v4
18g.53386028C>ACA2641857364DCCc.2360-15C>A (n.2360-15C>A)
c.2161-15C>A
c.2291-15C>A (n.2291-15C>A)
c.1325-15C>A (n.1325-15C>A)
 gnomAD v4
18g.53386028C>TCA2641857365DCCc.2360-15C>T (n.2360-15C>T)
c.2161-15C>T
c.2291-15C>T (n.2291-15C>T)
c.1325-15C>T (n.1325-15C>T)
 gnomAD v4
18g.53386028_53386040delCA2535142045DCCc.2360-15_2360-3del (n.2360-15_2360-3del)
c.2161-15_2161-3del
c.2291-15_2291-3del (n.2291-15_2291-3del)
c.1325-15_1325-3del (n.1325-15_1325-3del)
18g.53386030G=CA2304129470DCCc.2360-13G= (n.2360-13G=)
c.2161-13G=
c.2291-13G= (n.2291-13G=)
c.1325-13G= (n.1325-13G=)
18g.53386030G>TCA2304129471DCCc.2360-13G>T (n.2360-13G>T)
c.2161-13G>T
c.2291-13G>T (n.2291-13G>T)
c.1325-13G>T (n.1325-13G>T)
 dbSNP gnomAD v4
18g.53386031T>CCA2304129472DCCc.2360-12T>C (n.2360-12T>C)
c.2161-12T>C
c.2291-12T>C (n.2291-12T>C)
c.1325-12T>C (n.1325-12T>C)
 dbSNP gnomAD v4
18g.53386031T>GCA8967176DCCc.2360-12T>G (n.2360-12T>G)
c.2161-12T>G
c.2291-12T>G (n.2291-12T>G)
c.1325-12T>G (n.1325-12T>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.53386031T=CA2304129473DCCc.2360-12T= (n.2360-12T=)
c.2161-12T=
c.2291-12T= (n.2291-12T=)
c.1325-12T= (n.1325-12T=)
18g.53386036dupCA2641857366DCCc.2360-7dup (n.2360-7dup)
c.2161-7dup
c.2291-7dup (n.2291-7dup)
c.1325-7dup (n.1325-7dup)
 gnomAD v4
18g.53386036delCA2576506832DCCc.2360-7del (n.2360-7del)
c.2161-7del
c.2291-7del (n.2291-7del)
c.1325-7del (n.1325-7del)
 gnomAD v4
18g.53386032T>CCA629948288DCCc.2360-11T>C (n.2360-11T>C)
c.2161-11T>C
c.2291-11T>C (n.2291-11T>C)
c.1325-11T>C (n.1325-11T>C)
 dbSNP gnomAD v2 gnomAD v4
18g.53386032T=CA2304129474DCCc.2360-11T= (n.2360-11T=)
c.2161-11T=
c.2291-11T= (n.2291-11T=)
c.1325-11T= (n.1325-11T=)
18g.53386032_53386033insGCA2812531495DCCc.2360-11_2360-10insG (n.2360-11_2360-10insG)
c.2161-11_2161-10insG
c.2291-11_2291-10insG (n.2291-11_2291-10insG)
c.1325-11_1325-10insG (n.1325-11_1325-10insG)
18g.53386034T>CCA2304129476DCCc.2360-9T>C (n.2360-9T>C)
c.2161-9T>C
c.2291-9T>C (n.2291-9T>C)
c.1325-9T>C (n.1325-9T>C)
 dbSNP
18g.53386034T=CA2304129475DCCc.2360-9T= (n.2360-9T=)
c.2161-9T=
c.2291-9T= (n.2291-9T=)
c.1325-9T= (n.1325-9T=)
18g.53386035T>CCA2641857367DCCc.2360-8T>C (n.2360-8T>C)
c.2161-8T>C
c.2291-8T>C (n.2291-8T>C)
c.1325-8T>C (n.1325-8T>C)
 gnomAD v4
18g.53386036T>CCA300690555DCCc.2360-7T>C (n.2360-7T>C)
c.2161-7T>C
c.2291-7T>C (n.2291-7T>C)
c.1325-7T>C (n.1325-7T>C)
 dbSNP
18g.53386036T=CA2304129477DCCc.2360-7T= (n.2360-7T=)
c.2161-7T=
c.2291-7T= (n.2291-7T=)
c.1325-7T= (n.1325-7T=)
18g.53386037C>ACA2641857368DCCc.2360-6C>A (n.2360-6C>A)
c.2161-6C>A
c.2291-6C>A (n.2291-6C>A)
c.1325-6C>A (n.1325-6C>A)
 gnomAD v4
18g.53386038T>ACA629948289DCCc.2360-5T>A (n.2360-5T>A)
c.2161-5T>A
c.2291-5T>A (n.2291-5T>A)
c.1325-5T>A (n.1325-5T>A)
 dbSNP gnomAD v2 gnomAD v4
18g.53386038T=CA2304129478DCCc.2360-5T= (n.2360-5T=)
c.2161-5T=
c.2291-5T= (n.2291-5T=)
c.1325-5T= (n.1325-5T=)
18g.53386039C=CA2304129479DCCc.2360-4C= (n.2360-4C=)
c.2161-4C=
c.2291-4C= (n.2291-4C=)
c.1325-4C= (n.1325-4C=)
18g.53386039C>TCA629948291DCCc.2360-4C>T (n.2360-4C>T)
c.2161-4C>T
c.2291-4C>T (n.2291-4C>T)
c.1325-4C>T (n.1325-4C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v4
18g.53386040C>ACA2641857369DCCc.2360-3C>A (n.2360-3C>A)
c.2161-3C>A
c.2291-3C>A (n.2291-3C>A)
c.1325-3C>A (n.1325-3C>A)
 gnomAD v4
18g.53386041A>CCA402471547DCCc.2360-2A>C (n.2360-2A>C)
c.2161-2A>C
c.2291-2A>C (n.2291-2A>C)
c.1325-2A>C (n.1325-2A>C)
18g.53386041A>GCA402471548DCCc.2360-2A>G (n.2360-2A>G)
c.2161-2A>G
c.2291-2A>G (n.2291-2A>G)
c.1325-2A>G (n.1325-2A>G)
18g.53386041A>TCA402471549DCCc.2360-2A>T (n.2360-2A>T)
c.2161-2A>T
c.2291-2A>T (n.2291-2A>T)
c.1325-2A>T (n.1325-2A>T)
18g.53386042G>ACA402471550DCCc.2360-1G>A (n.2360-1G>A)
c.2161-1G>A
c.2291-1G>A (n.2291-1G>A)
c.1325-1G>A (n.1325-1G>A)
 gnomAD v4
18g.53386042G>CCA402471551DCCc.2360-1G>C (n.2360-1G>C)
c.2161-1G>C
c.2291-1G>C (n.2291-1G>C)
c.1325-1G>C (n.1325-1G>C)
18g.53386042G>TCA402471552DCCc.2360-1G>T (n.2360-1G>T)
c.2161-1G>T
c.2291-1G>T (n.2291-1G>T)
c.1325-1G>T (n.1325-1G>T)
18g.53386043A=CA2304129480DCCc.2360A= (p.Glu787=)
c.2161A=
c.2291A= (p.Glu764=)
c.1325A= (p.Glu442=)
18g.53386043A>CCA8967177DCCc.2360A>C (p.Glu787Ala)
c.2161A>C
c.2291A>C (p.Glu764Ala)
c.1325A>C (p.Glu442Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.53386043A>GCA402471553DCCc.2360A>G (p.Glu787Gly)
c.2161A>G
c.2291A>G (p.Glu764Gly)
c.1325A>G (p.Glu442Gly)
 dbSNP gnomAD v4 COSMIC COSMIC
18g.53386043A>TCA402471554DCCc.2360A>T (p.Glu787Val)
c.2161A>T
c.2291A>T (p.Glu764Val)
c.1325A>T (p.Glu442Val)
18g.53386044G>ACA503875332DCCc.2361G>A (p.Glu787=)
c.2162G>A
c.2292G>A (p.Glu764=)
c.1326G>A (p.Glu442=)
18g.53386044G>CCA402471555DCCc.2361G>C (p.Glu787Asp)
c.2162G>C
c.2292G>C (p.Glu764Asp)
c.1326G>C (p.Glu442Asp)
18g.53386044G=CA2304129481DCCc.2361G= (p.Glu787=)
c.2162G=
c.2292G= (p.Glu764=)
c.1326G= (p.Glu442=)
18g.53386044G>TCA402471556DCCc.2361G>T (p.Glu787Asp)
c.2162G>T
c.2292G>T (p.Glu764Asp)
c.1326G>T (p.Glu442Asp)
 dbSNP gnomAD v3 gnomAD v4
18g.53386045T>ACA402471557DCCc.2362T>A (p.Ser788Thr)
c.2163T>A
c.2293T>A (p.Ser765Thr)
c.1327T>A (p.Ser443Thr)
18g.53386045T>CCA402471559DCCc.2362T>C (p.Ser788Pro)
c.2163T>C
c.2293T>C (p.Ser765Pro)
c.1327T>C (p.Ser443Pro)
18g.53386045T>GCA402471558DCCc.2362T>G (p.Ser788Ala)
c.2163T>G
c.2293T>G (p.Ser765Ala)
c.1327T>G (p.Ser443Ala)
 gnomAD v4
18g.53386046C>ACA402471560DCCc.2363C>A (p.Ser788Ter)
c.2164C>A
c.2294C>A (p.Ser765Ter)
c.1328C>A (p.Ser443Ter)
 gnomAD v4
18g.53386046C=CA2304129482DCCc.2363C= (p.Ser788=)
c.2164C=
c.2294C= (p.Ser765=)
c.1328C= (p.Ser443=)
18g.53386046C>GCA402471561DCCc.2363C>G (p.Ser788Ter)
c.2164C>G
c.2294C>G (p.Ser765Ter)
c.1328C>G (p.Ser443Ter)
18g.53386046C>TCA300690575DCCc.2363C>T (p.Ser788Leu)
c.2164C>T
c.2294C>T (p.Ser765Leu)
c.1328C>T (p.Ser443Leu)
 dbSNP
18g.53386047A=CA2304129483DCCc.2364A= (p.Ser788=)
c.2165A=
c.2295A= (p.Ser765=)
c.1329A= (p.Ser443=)
18g.53386047A>CCA503875333DCCc.2364A>C (p.Ser788=)
c.2165A>C
c.2295A>C (p.Ser765=)
c.1329A>C (p.Ser443=)
18g.53386047A>GCA503875334DCCc.2364A>G (p.Ser788=)
c.2165A>G
c.2295A>G (p.Ser765=)
c.1329A>G (p.Ser443=)
 dbSNP
18g.53386047A>TCA503875335DCCc.2364A>T (p.Ser788=)
c.2165A>T
c.2295A>T (p.Ser765=)
c.1329A>T (p.Ser443=)
 gnomAD v4
18g.53386048A=CA2304129484DCCc.2365A= (p.Ser789=)
c.2166A=
c.2296A= (p.Ser766=)
c.1330A= (p.Ser444=)
18g.53386048A>CCA402471562DCCc.2365A>C (p.Ser789Arg)
c.2166A>C
c.2296A>C (p.Ser766Arg)
c.1330A>C (p.Ser444Arg)
 COSMIC COSMIC
18g.53386048A>GCA402471563DCCc.2365A>G (p.Ser789Gly)
c.2166A>G
c.2296A>G (p.Ser766Gly)
c.1330A>G (p.Ser444Gly)
 dbSNP gnomAD v2 gnomAD v4
18g.53386048A>TCA402471564DCCc.2365A>T (p.Ser789Cys)
c.2166A>T
c.2296A>T (p.Ser766Cys)
c.1330A>T (p.Ser444Cys)
18g.53386049G>ACA402471565DCCc.2366G>A (p.Ser789Asn)
c.2167G>A
c.2297G>A (p.Ser766Asn)
c.1331G>A (p.Ser444Asn)
18g.53386049G>CCA402471566DCCc.2366G>C (p.Ser789Thr)
c.2167G>C
c.2297G>C (p.Ser766Thr)
c.1331G>C (p.Ser444Thr)
18g.53386049G>TCA402471567DCCc.2366G>T (p.Ser789Ile)
c.2167G>T
c.2297G>T (p.Ser766Ile)
c.1331G>T (p.Ser444Ile)
 gnomAD v4
18g.53386050T>ACA402471568DCCc.2367T>A (p.Ser789Arg)
c.2168T>A
c.2298T>A (p.Ser766Arg)
c.1332T>A (p.Ser444Arg)
18g.53386050T>CCA503875336DCCc.2367T>C (p.Ser789=)
c.2168T>C
c.2298T>C (p.Ser766=)
c.1332T>C (p.Ser444=)
18g.53386050T>GCA402471569DCCc.2367T>G (p.Ser789Arg)
c.2168T>G
c.2298T>G (p.Ser766Arg)
c.1332T>G (p.Ser444Arg)
18g.53386051T>ACA402471572DCCc.2368T>A (p.Ser790Thr)
c.2169T>A
c.2299T>A (p.Ser767Thr)
c.1333T>A (p.Ser445Thr)
18g.53386051T>CCA402471571DCCc.2368T>C (p.Ser790Pro)
c.2169T>C
c.2299T>C (p.Ser767Pro)
c.1333T>C (p.Ser445Pro)
 COSMIC COSMIC
18g.53386051T>GCA402471570DCCc.2368T>G (p.Ser790Ala)
c.2169T>G
c.2299T>G (p.Ser767Ala)
c.1333T>G (p.Ser445Ala)
18g.53386052C>ACA402471575DCCc.2369C>A (p.Ser790Tyr)
c.2170C>A
c.2300C>A (p.Ser767Tyr)
c.1334C>A (p.Ser445Tyr)
 gnomAD v4
18g.53386052C>GCA402471573DCCc.2369C>G (p.Ser790Cys)
c.2170C>G
c.2300C>G (p.Ser767Cys)
c.1334C>G (p.Ser445Cys)
18g.53386052C>TCA402471574DCCc.2369C>T (p.Ser790Phe)
c.2170C>T
c.2300C>T (p.Ser767Phe)
c.1334C>T (p.Ser445Phe)
 gnomAD v4 COSMIC COSMIC
18g.53386053C>ACA503875337DCCc.2370C>A (p.Ser790=)
c.2171C>A
c.2301C>A (p.Ser767=)
c.1335C>A (p.Ser445=)
18g.53386053C>GCA503875338DCCc.2370C>G (p.Ser790=)
c.2171C>G
c.2301C>G (p.Ser767=)
c.1335C>G (p.Ser445=)
 gnomAD v4
18g.53386053C>TCA503875339DCCc.2370C>T (p.Ser790=)
c.2171C>T
c.2301C>T (p.Ser767=)
c.1335C>T (p.Ser445=)
 COSMIC COSMIC
18g.53386054C>ACA402471576DCCc.2371C>A (p.His791Asn)
c.2172C>A
c.2302C>A (p.His768Asn)
c.1336C>A (p.His446Asn)
18g.53386054C>GCA402471577DCCc.2371C>G (p.His791Asp)
c.2172C>G
c.2302C>G (p.His768Asp)
c.1336C>G (p.His446Asp)
18g.53386054C>TCA402471578DCCc.2371C>T (p.His791Tyr)
c.2172C>T
c.2302C>T (p.His768Tyr)
c.1336C>T (p.His446Tyr)
 gnomAD v3 gnomAD v4
18g.53386055A>CCA402471579DCCc.2372A>C (p.His791Pro)
c.2173A>C
c.2303A>C (p.His768Pro)
c.1337A>C (p.His446Pro)
18g.53386055A>GCA402471580DCCc.2372A>G (p.His791Arg)
c.2173A>G
c.2303A>G (p.His768Arg)
c.1337A>G (p.His446Arg)
18g.53386055A>TCA402471581DCCc.2372A>T (p.His791Leu)
c.2173A>T
c.2303A>T (p.His768Leu)
c.1337A>T (p.His446Leu)
18g.53386056T>ACA402471582DCCc.2373T>A (p.His791Gln)
c.2174T>A
c.2304T>A (p.His768Gln)
c.1338T>A (p.His446Gln)
 COSMIC COSMIC
18g.53386056T>CCA503875340DCCc.2373T>C (p.His791=)
c.2174T>C
c.2304T>C (p.His768=)
c.1338T>C (p.His446=)
18g.53386056T>GCA402471583DCCc.2373T>G (p.His791Gln)
c.2174T>G
c.2304T>G (p.His768Gln)
c.1338T>G (p.His446Gln)
18g.53386057delCA2641857370DCCc.2374del (p.Tyr792MetfsTer2)
c.2175del
c.2305del (p.Tyr769MetfsTer2)
c.1339del (p.Tyr447MetfsTer2)
 gnomAD v4
18g.53386057T>ACA402471584DCCc.2374T>A (p.Tyr792Asn)
c.2175T>A
c.2305T>A (p.Tyr769Asn)
c.1339T>A (p.Tyr447Asn)
18g.53386057T>CCA402471585DCCc.2374T>C (p.Tyr792His)
c.2175T>C
c.2305T>C (p.Tyr769His)
c.1339T>C (p.Tyr447His)
18g.53386057T>GCA402471586DCCc.2374T>G (p.Tyr792Asp)
c.2175T>G
c.2305T>G (p.Tyr769Asp)
c.1339T>G (p.Tyr447Asp)
18g.53386058A>CCA402471589DCCc.2375A>C (p.Tyr792Ser)
c.2176A>C
c.2306A>C (p.Tyr769Ser)
c.1340A>C (p.Tyr447Ser)
18g.53386058A>GCA402471587DCCc.2375A>G (p.Tyr792Cys)
c.2176A>G
c.2306A>G (p.Tyr769Cys)
c.1340A>G (p.Tyr447Cys)
 gnomAD v4
18g.53386058A>TCA402471588DCCc.2375A>T (p.Tyr792Phe)
c.2176A>T
c.2306A>T (p.Tyr769Phe)
c.1340A>T (p.Tyr447Phe)
18g.53386060_53386064delCA2573130291DCCc.2377_2381del (p.Val793LeufsTer6)
c.2178_2182del
c.2308_2312del (p.Val770LeufsTer6)
c.1342_1346del (p.Val448LeufsTer6)
18g.53386059T>ACA402471590DCCc.2376T>A (p.Tyr792Ter)
c.2177T>A
c.2307T>A (p.Tyr769Ter)
c.1341T>A (p.Tyr447Ter)
18g.53386059T>CCA8967178DCCc.2376T>C (p.Tyr792=)
c.2177T>C
c.2307T>C (p.Tyr769=)
c.1341T>C (p.Tyr447=)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.53386059T>GCA402471591DCCc.2376T>G (p.Tyr792Ter)
c.2177T>G
c.2307T>G (p.Tyr769Ter)
c.1341T>G (p.Tyr447Ter)
18g.53386059T=CA2304129485DCCc.2376T= (p.Tyr792=)
c.2177T=
c.2307T= (p.Tyr769=)
c.1341T= (p.Tyr447=)
18g.53386060G>ACA402471592DCCc.2377G>A (p.Val793Ile)
c.2178G>A
c.2308G>A (p.Val770Ile)
c.1342G>A (p.Val448Ile)
 gnomAD v4
18g.53386060G>CCA402471593DCCc.2377G>C (p.Val793Leu)
c.2178G>C
c.2308G>C (p.Val770Leu)
c.1342G>C (p.Val448Leu)
18g.53386060G>TCA402471594DCCc.2377G>T (p.Val793Leu)
c.2178G>T
c.2308G>T (p.Val770Leu)
c.1342G>T (p.Val448Leu)
18g.53386061T>ACA402471595DCCc.2378T>A (p.Val793Glu)
c.2179T>A
c.2309T>A (p.Val770Glu)
c.1343T>A (p.Val448Glu)
18g.53386061T>CCA402471596DCCc.2378T>C (p.Val793Ala)
c.2179T>C
c.2309T>C (p.Val770Ala)
c.1343T>C (p.Val448Ala)
18g.53386061T>GCA16044034DCCc.2378T>G (p.Val793Gly)
c.2179T>G
c.2309T>G (p.Val770Gly)
c.1343T>G (p.Val448Gly)
 ClinVar dbSNP
18g.53386061T=CA2304129486DCCc.2378T= (p.Val793=)
c.2179T=
c.2309T= (p.Val770=)
c.1343T= (p.Val448=)
18g.53386062A>CCA503875343DCCc.2379A>C (p.Val793=)
c.2180A>C
c.2310A>C (p.Val770=)
c.1344A>C (p.Val448=)
18g.53386062A>GCA503875342DCCc.2379A>G (p.Val793=)
c.2180A>G
c.2310A>G (p.Val770=)
c.1344A>G (p.Val448=)
18g.53386062A>TCA503875341DCCc.2379A>T (p.Val793=)
c.2180A>T
c.2310A>T (p.Val770=)
c.1344A>T (p.Val448=)
18g.53386063A>CCA402471597DCCc.2380A>C (p.Ile794Leu)
c.2181A>C
c.2311A>C (p.Ile771Leu)
c.1345A>C (p.Ile449Leu)
18g.53386063A>GCA402471598DCCc.2380A>G (p.Ile794Val)
c.2181A>G
c.2311A>G (p.Ile771Val)
c.1345A>G (p.Ile449Val)
18g.53386063A>TCA402471599DCCc.2380A>T (p.Ile794Phe)
c.2181A>T
c.2311A>T (p.Ile771Phe)
c.1345A>T (p.Ile449Phe)
18g.53386064T>ACA402471601DCCc.2381T>A (p.Ile794Asn)
c.2182T>A
c.2312T>A (p.Ile771Asn)
c.1346T>A (p.Ile449Asn)
18g.53386064T>CCA402471602DCCc.2381T>C (p.Ile794Thr)
c.2182T>C
c.2312T>C (p.Ile771Thr)
c.1346T>C (p.Ile449Thr)
18g.53386064T>GCA402471600DCCc.2381T>G (p.Ile794Ser)
c.2182T>G
c.2312T>G (p.Ile771Ser)
c.1346T>G (p.Ile449Ser)
18g.53386065C>ACA503875344DCCc.2382C>A (p.Ile794=)
c.2183C>A
c.2313C>A (p.Ile771=)
c.1347C>A (p.Ile449=)
 gnomAD v4
18g.53386065C>GCA402471603DCCc.2382C>G (p.Ile794Met)
c.2183C>G
c.2313C>G (p.Ile771Met)
c.1347C>G (p.Ile449Met)
18g.53386065C>TCA503875345DCCc.2382C>T (p.Ile794=)
c.2183C>T
c.2313C>T (p.Ile771=)
c.1347C>T (p.Ile449=)
 gnomAD v4 COSMIC COSMIC
18g.53386066T>ACA402471606DCCc.2383T>A (p.Ser795Thr)
c.2184T>A
c.2314T>A (p.Ser772Thr)
c.1348T>A (p.Ser450Thr)
18g.53386066T>CCA402471604DCCc.2383T>C (p.Ser795Pro)
c.2184T>C
c.2314T>C (p.Ser772Pro)
c.1348T>C (p.Ser450Pro)
 dbSNP
18g.53386066T>GCA402471605DCCc.2383T>G (p.Ser795Ala)
c.2184T>G
c.2314T>G (p.Ser772Ala)
c.1348T>G (p.Ser450Ala)
18g.53386066T=CA2304129487DCCc.2383T= (p.Ser795=)
c.2184T=
c.2314T= (p.Ser772=)
c.1348T= (p.Ser450=)
18g.53386067C>ACA402471607DCCc.2384C>A (p.Ser795Tyr)
c.2185C>A
c.2315C>A (p.Ser772Tyr)
c.1349C>A (p.Ser450Tyr)
18g.53386067C>GCA402471608DCCc.2384C>G (p.Ser795Cys)
c.2185C>G
c.2315C>G (p.Ser772Cys)
c.1349C>G (p.Ser450Cys)
18g.53386067C>TCA402471609DCCc.2384C>T (p.Ser795Phe)
c.2185C>T
c.2315C>T (p.Ser772Phe)
c.1349C>T (p.Ser450Phe)
18g.53386068C>ACA503875346DCCc.2385C>A (p.Ser795=)
c.2186C>A
c.2316C>A (p.Ser772=)
c.1350C>A (p.Ser450=)
18g.53386068C=CA2304129488DCCc.2385C= (p.Ser795=)
c.2186C=
c.2316C= (p.Ser772=)
c.1350C= (p.Ser450=)
18g.53386068C>GCA503875348DCCc.2385C>G (p.Ser795=)
c.2186C>G
c.2316C>G (p.Ser772=)
c.1350C>G (p.Ser450=)
18g.53386068C>TCA503875347DCCc.2385C>T (p.Ser795=)
c.2186C>T
c.2316C>T (p.Ser772=)
c.1350C>T (p.Ser450=)
 dbSNP COSMIC COSMIC
18g.53386069C>ACA402471610DCCc.2386C>A (p.Leu796Ile)
c.2187C>A
c.2317C>A (p.Leu773Ile)
c.1351C>A (p.Leu451Ile)
18g.53386069C>GCA402471611DCCc.2386C>G (p.Leu796Val)
c.2187C>G
c.2317C>G (p.Leu773Val)
c.1351C>G (p.Leu451Val)
18g.53386069C>TCA503875349DCCc.2386C>T (p.Leu796=)
c.2187C>T
c.2317C>T (p.Leu773=)
c.1351C>T (p.Leu451=)
18g.53386070T>ACA402471612DCCc.2387T>A (p.Leu796Gln)
c.2188T>A
c.2318T>A (p.Leu773Gln)
c.1352T>A (p.Leu451Gln)
18g.53386070T>CCA402471613DCCc.2387T>C (p.Leu796Pro)
c.2188T>C
c.2318T>C (p.Leu773Pro)
c.1352T>C (p.Leu451Pro)
 gnomAD v4
18g.53386070T>GCA402471614DCCc.2387T>G (p.Leu796Arg)
c.2188T>G
c.2318T>G (p.Leu773Arg)
c.1352T>G (p.Leu451Arg)
18g.53386071A=CA2304129489DCCc.2388A= (p.Leu796=)
c.2189A=
c.2319A= (p.Leu773=)
c.1353A= (p.Leu451=)
18g.53386071A>CCA503875363DCCc.2388A>C (p.Leu796=)
c.2189A>C
c.2319A>C (p.Leu773=)
c.1353A>C (p.Leu451=)
18g.53386071A>GCA8967179DCCc.2388A>G (p.Leu796=)
c.2189A>G
c.2319A>G (p.Leu773=)
c.1353A>G (p.Leu451=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.53386071A>TCA503875364DCCc.2388A>T (p.Leu796=)
c.2189A>T
c.2319A>T (p.Leu773=)
c.1353A>T (p.Leu451=)
18g.53386072A>CCA402471617DCCc.2389A>C (p.Lys797Gln)
c.2190A>C
c.2320A>C (p.Lys774Gln)
c.1354A>C (p.Lys452Gln)
18g.53386072A>GCA402471615DCCc.2389A>G (p.Lys797Glu)
c.2190A>G
c.2320A>G (p.Lys774Glu)
c.1354A>G (p.Lys452Glu)
18g.53386072A>TCA402471616DCCc.2389A>T (p.Lys797Ter)
c.2190A>T
c.2320A>T (p.Lys774Ter)
c.1354A>T (p.Lys452Ter)
18g.53386073A=CA2304129490DCCc.2390A= (p.Lys797=)
c.2191A=
c.2321A= (p.Lys774=)
c.1355A= (p.Lys452=)
18g.53386073A>CCA402471618DCCc.2390A>C (p.Lys797Thr)
c.2191A>C
c.2321A>C (p.Lys774Thr)
c.1355A>C (p.Lys452Thr)
18g.53386073A>GCA402471619DCCc.2390A>G (p.Lys797Arg)
c.2191A>G
c.2321A>G (p.Lys774Arg)
c.1355A>G (p.Lys452Arg)
 dbSNP gnomAD v2 gnomAD v4
18g.53386073A>TCA402471620DCCc.2390A>T (p.Lys797Ile)
c.2191A>T
c.2321A>T (p.Lys774Ile)
c.1355A>T (p.Lys452Ile)
18g.53386074A>CCA402471621DCCc.2391A>C (p.Lys797Asn)
c.2192A>C
c.2322A>C (p.Lys774Asn)
c.1356A>C (p.Lys452Asn)
18g.53386074A>GCA503875365DCCc.2391A>G (p.Lys797=)
c.2192A>G
c.2322A>G (p.Lys774=)
c.1356A>G (p.Lys452=)
18g.53386074A>TCA402471622DCCc.2391A>T (p.Lys797Asn)
c.2192A>T
c.2322A>T (p.Lys774Asn)
c.1356A>T (p.Lys452Asn)
18g.53386075G>ACA402471623DCCc.2392G>A (p.Ala798Thr)
c.2193G>A
c.2323G>A (p.Ala775Thr)
c.1357G>A (p.Ala453Thr)
 COSMIC COSMIC
18g.53386075G>CCA402471624DCCc.2392G>C (p.Ala798Pro)
c.2193G>C
c.2323G>C (p.Ala775Pro)
c.1357G>C (p.Ala453Pro)
18g.53386075G>TCA402471625DCCc.2392G>T (p.Ala798Ser)
c.2193G>T
c.2323G>T (p.Ala775Ser)
c.1357G>T (p.Ala453Ser)
 gnomAD v4
18g.53386076C>ACA402471626DCCc.2393C>A (p.Ala798Asp)
c.2194C>A
c.2324C>A (p.Ala775Asp)
c.1358C>A (p.Ala453Asp)
18g.53386076C>GCA402471627DCCc.2393C>G (p.Ala798Gly)
c.2194C>G
c.2324C>G (p.Ala775Gly)
c.1358C>G (p.Ala453Gly)
18g.53386076C>TCA402471628DCCc.2393C>T (p.Ala798Val)
c.2194C>T
c.2324C>T (p.Ala775Val)
c.1358C>T (p.Ala453Val)
 gnomAD v4
18g.53386077T>ACA503875368DCCc.2394T>A (p.Ala798=)
c.2195T>A
c.2325T>A (p.Ala775=)
c.1359T>A (p.Ala453=)
18g.53386077T>CCA503875369DCCc.2394T>C (p.Ala798=)
c.2195T>C
c.2325T>C (p.Ala775=)
c.1359T>C (p.Ala453=)
 gnomAD v4
18g.53386077T>GCA503875367DCCc.2394T>G (p.Ala798=)
c.2195T>G
c.2325T>G (p.Ala775=)
c.1359T>G (p.Ala453=)
18g.53386078T>ACA402471630DCCc.2395T>A (p.Phe799Ile)
c.2196T>A
c.2326T>A (p.Phe776Ile)
c.1360T>A (p.Phe454Ile)
18g.53386078T>CCA402471631DCCc.2395T>C (p.Phe799Leu)
c.2196T>C
c.2326T>C (p.Phe776Leu)
c.1360T>C (p.Phe454Leu)
18g.53386078T>GCA402471629DCCc.2395T>G (p.Phe799Val)
c.2196T>G
c.2326T>G (p.Phe776Val)
c.1360T>G (p.Phe454Val)
18g.53386079T>ACA402471632DCCc.2396T>A (p.Phe799Tyr)
c.2197T>A
c.2327T>A (p.Phe776Tyr)
c.1361T>A (p.Phe454Tyr)
18g.53386079T>CCA402471633DCCc.2396T>C (p.Phe799Ser)
c.2197T>C
c.2327T>C (p.Phe776Ser)
c.1361T>C (p.Phe454Ser)
18g.53386079T>GCA402471634DCCc.2396T>G (p.Phe799Cys)
c.2197T>G
c.2327T>G (p.Phe776Cys)
c.1361T>G (p.Phe454Cys)
18g.53386080T>ACA402471635DCCc.2397T>A (p.Phe799Leu)
c.2198T>A
c.2328T>A (p.Phe776Leu)
c.1362T>A (p.Phe454Leu)
18g.53386080T>CCA503875370DCCc.2397T>C (p.Phe799=)
c.2198T>C
c.2328T>C (p.Phe776=)
c.1362T>C (p.Phe454=)
 dbSNP
18g.53386080T>GCA402471636DCCc.2397T>G (p.Phe799Leu)
c.2198T>G
c.2328T>G (p.Phe776Leu)
c.1362T>G (p.Phe454Leu)
 gnomAD v4
18g.53386081A>CCA402471639DCCc.2398A>C (p.Asn800His)
c.2199A>C
c.2329A>C (p.Asn777His)
c.1363A>C (p.Asn455His)
18g.53386081A>GCA402471637DCCc.2398A>G (p.Asn800Asp)
c.2199A>G
c.2329A>G (p.Asn777Asp)
c.1363A>G (p.Asn455Asp)
18g.53386081A>TCA402471638DCCc.2398A>T (p.Asn800Tyr)
c.2199A>T
c.2329A>T (p.Asn777Tyr)
c.1363A>T (p.Asn455Tyr)
18g.53386082dupCA2695227536DCCc.2399dup (p.Asn800LysfsTer11)
c.2200dup
c.2330dup (p.Asn777LysfsTer11)
c.1364dup (p.Asn455LysfsTer11)
18g.53386082A>CCA402471640DCCc.2399A>C (p.Asn800Thr)
c.2200A>C
c.2330A>C (p.Asn777Thr)
c.1364A>C (p.Asn455Thr)
18g.53386082A>GCA402471641DCCc.2399A>G (p.Asn800Ser)
c.2200A>G
c.2330A>G (p.Asn777Ser)
c.1364A>G (p.Asn455Ser)
18g.53386082A>TCA402471642DCCc.2399A>T (p.Asn800Ile)
c.2200A>T
c.2330A>T (p.Asn777Ile)
c.1364A>T (p.Asn455Ile)
18g.53386083C>ACA402471643DCCc.2400C>A (p.Asn800Lys)
c.2201C>A
c.2331C>A (p.Asn777Lys)
c.1365C>A (p.Asn455Lys)
18g.53386083C>GCA402471644DCCc.2400C>G (p.Asn800Lys)
c.2201C>G
c.2331C>G (p.Asn777Lys)
c.1365C>G (p.Asn455Lys)
18g.53386083C>TCA503875372DCCc.2400C>T (p.Asn800=)
c.2201C>T
c.2331C>T (p.Asn777=)
c.1365C>T (p.Asn455=)
18g.53386084A>CCA402471646DCCc.2401A>C (p.Asn801His)
c.2202A>C
c.2332A>C (p.Asn778His)
c.1366A>C (p.Asn456His)
18g.53386084A>GCA402471648DCCc.2401A>G (p.Asn801Asp)
c.2202A>G
c.2332A>G (p.Asn778Asp)
c.1366A>G (p.Asn456Asp)
18g.53386084A>TCA402471647DCCc.2401A>T (p.Asn801Tyr)
c.2202A>T
c.2332A>T (p.Asn778Tyr)
c.1366A>T (p.Asn456Tyr)
 gnomAD v4
18g.53386085A=CA2304129491DCCc.2402A= (p.Asn801=)
c.2203A=
c.2333A= (p.Asn778=)
c.1367A= (p.Asn456=)
18g.53386085A>CCA402471649DCCc.2402A>C (p.Asn801Thr)
c.2203A>C
c.2333A>C (p.Asn778Thr)
c.1367A>C (p.Asn456Thr)
18g.53386085A>GCA402471650DCCc.2402A>G (p.Asn801Ser)
c.2203A>G
c.2333A>G (p.Asn778Ser)
c.1367A>G (p.Asn456Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.53386085A>TCA402471651DCCc.2402A>T (p.Asn801Ile)
c.2203A>T
c.2333A>T (p.Asn778Ile)
c.1367A>T (p.Asn456Ile)
18g.53386086T>ACA402471652DCCc.2403T>A (p.Asn801Lys)
c.2204T>A
c.2334T>A (p.Asn778Lys)
c.1368T>A (p.Asn456Lys)
18g.53386086T>CCA503875373DCCc.2403T>C (p.Asn801=)
c.2204T>C
c.2334T>C (p.Asn778=)
c.1368T>C (p.Asn456=)
18g.53386086T>GCA402471653DCCc.2403T>G (p.Asn801Lys)
c.2204T>G
c.2334T>G (p.Asn778Lys)
c.1368T>G (p.Asn456Lys)
18g.53386087G>ACA402471654DCCc.2404G>A (p.Ala802Thr)
c.2205G>A
c.2335G>A (p.Ala779Thr)
c.1369G>A (p.Ala457Thr)
 gnomAD v4
18g.53386087G>CCA402471655DCCc.2404G>C (p.Ala802Pro)
c.2205G>C
c.2335G>C (p.Ala779Pro)
c.1369G>C (p.Ala457Pro)
18g.53386087G>TCA402471656DCCc.2404G>T (p.Ala802Ser)
c.2205G>T
c.2335G>T (p.Ala779Ser)
c.1369G>T (p.Ala457Ser)
18g.53386088C>ACA402471657DCCc.2405C>A (p.Ala802Asp)
c.2206C>A
c.2336C>A (p.Ala779Asp)
c.1370C>A (p.Ala457Asp)
18g.53386088C>GCA402471658DCCc.2405C>G (p.Ala802Gly)
c.2206C>G
c.2336C>G (p.Ala779Gly)
c.1370C>G (p.Ala457Gly)
18g.53386088C>TCA402471659DCCc.2405C>T (p.Ala802Val)
c.2206C>T
c.2336C>T (p.Ala779Val)
c.1370C>T (p.Ala457Val)
18g.53386089C>ACA503875374DCCc.2406C>A (p.Ala802=)
c.2207C>A
c.2337C>A (p.Ala779=)
c.1371C>A (p.Ala457=)
18g.53386089C=CA2304129492DCCc.2406C= (p.Ala802=)
c.2207C=
c.2337C= (p.Ala779=)
c.1371C= (p.Ala457=)
18g.53386089C>GCA503875375DCCc.2406C>G (p.Ala802=)
c.2207C>G
c.2337C>G (p.Ala779=)
c.1371C>G (p.Ala457=)
 gnomAD v4
18g.53386089C>TCA300690590DCCc.2406C>T (p.Ala802=)
c.2207C>T
c.2337C>T (p.Ala779=)
c.1371C>T (p.Ala457=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.53386090G>ACA347154DCCc.2407G>A (p.Gly803Arg)
c.2208G>A
c.2338G>A (p.Gly780Arg)
c.1372G>A (p.Gly458Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
18g.53386090G>CCA402471661DCCc.2407G>C (p.Gly803Arg)
c.2208G>C
c.2338G>C (p.Gly780Arg)
c.1372G>C (p.Gly458Arg)
18g.53386090G=CA2304129493DCCc.2407G= (p.Gly803=)
c.2208G=
c.2338G= (p.Gly780=)
c.1372G= (p.Gly458=)
18g.53386090G>TCA402471660DCCc.2407G>T (p.Gly803Ter)
c.2208G>T
c.2338G>T (p.Gly780Ter)
c.1372G>T (p.Gly458Ter)
18g.53386091G>ACA402471664DCCc.2408G>A (p.Gly803Glu)
c.2209G>A
c.2339G>A (p.Gly780Glu)
c.1373G>A (p.Gly458Glu)
18g.53386091G>CCA402471662DCCc.2408G>C (p.Gly803Ala)
c.2209G>C
c.2339G>C (p.Gly780Ala)
c.1373G>C (p.Gly458Ala)
18g.53386091G>TCA402471663DCCc.2408G>T (p.Gly803Val)
c.2209G>T
c.2339G>T (p.Gly780Val)
c.1373G>T (p.Gly458Val)
18g.53386092A>CCA503875376DCCc.2409A>C (p.Gly803=)
c.2210A>C
c.2340A>C (p.Gly780=)
c.1374A>C (p.Gly458=)
18g.53386092A>GCA503875377DCCc.2409A>G (p.Gly803=)
c.2210A>G
c.2340A>G (p.Gly780=)
c.1374A>G (p.Gly458=)
18g.53386092A>TCA503875378DCCc.2409A>T (p.Gly803=)
c.2210A>T
c.2340A>T (p.Gly780=)
c.1374A>T (p.Gly458=)
18g.53386093G>ACA402471665DCCc.2410G>A (p.Glu804Lys)
c.2211G>A
c.2341G>A (p.Glu781Lys)
c.1375G>A (p.Glu459Lys)
18g.53386093G>CCA402471666DCCc.2410G>C (p.Glu804Gln)
c.2211G>C
c.2341G>C (p.Glu781Gln)
c.1375G>C (p.Glu459Gln)
18g.53386093G>TCA402471667DCCc.2410G>T (p.Glu804Ter)
c.2211G>T
c.2341G>T (p.Glu781Ter)
c.1375G>T (p.Glu459Ter)
18g.53386094A>CCA402471668DCCc.2411A>C (p.Glu804Ala)
c.2212A>C
c.2342A>C (p.Glu781Ala)
c.1376A>C (p.Glu459Ala)
 gnomAD v4
18g.53386094A>GCA402471669DCCc.2411A>G (p.Glu804Gly)
c.2212A>G
c.2342A>G (p.Glu781Gly)
c.1376A>G (p.Glu459Gly)
18g.53386094A>TCA402471670DCCc.2411A>T (p.Glu804Val)
c.2212A>T
c.2342A>T (p.Glu781Val)
c.1376A>T (p.Glu459Val)
18g.53386095A=CA2304129494DCCc.2412A= (p.Glu804=)
c.2213A=
c.2343A= (p.Glu781=)
c.1377A= (p.Glu459=)
18g.53386095A>CCA402471671DCCc.2412A>C (p.Glu804Asp)
c.2213A>C
c.2343A>C (p.Glu781Asp)
c.1377A>C (p.Glu459Asp)
 dbSNP gnomAD v4
18g.53386095A>GCA503875379DCCc.2412A>G (p.Glu804=)
c.2213A>G
c.2343A>G (p.Glu781=)
c.1377A>G (p.Glu459=)
18g.53386095A>TCA402471672DCCc.2412A>T (p.Glu804Asp)
c.2213A>T
c.2343A>T (p.Glu781Asp)
c.1377A>T (p.Glu459Asp)
18g.53386096G>ACA402471673DCCc.2413G>A (p.Gly805Arg)
c.2214G>A
c.2344G>A (p.Gly782Arg)
c.1378G>A (p.Gly460Arg)
 COSMIC COSMIC
18g.53386096G>CCA402471674DCCc.2413G>C (p.Gly805Arg)
c.2214G>C
c.2344G>C (p.Gly782Arg)
c.1378G>C (p.Gly460Arg)
18g.53386096G>TCA402471675DCCc.2413G>T (p.Gly805Ter)
c.2214G>T
c.2344G>T (p.Gly782Ter)
c.1378G>T (p.Gly460Ter)
18g.53386097G>ACA16044035DCCc.2414G>A (p.Gly805Glu)
c.2215G>A
c.2345G>A (p.Gly782Glu)
c.1379G>A (p.Gly460Glu)
 ClinVar dbSNP
18g.53386097G>CCA402471676DCCc.2414G>C (p.Gly805Ala)
c.2215G>C
c.2345G>C (p.Gly782Ala)
c.1379G>C (p.Gly460Ala)
18g.53386097G=CA2304129495DCCc.2414G= (p.Gly805=)
c.2215G=
c.2345G= (p.Gly782=)
c.1379G= (p.Gly460=)
18g.53386097G>TCA402471677DCCc.2414G>T (p.Gly805Val)
c.2215G>T
c.2345G>T (p.Gly782Val)
c.1379G>T (p.Gly460Val)
18g.53386098A>CCA503875381DCCc.2415A>C (p.Gly805=)
c.2216A>C
c.2346A>C (p.Gly782=)
c.1380A>C (p.Gly460=)
18g.53386098A>GCA503875382DCCc.2415A>G (p.Gly805=)
c.2216A>G
c.2346A>G (p.Gly782=)
c.1380A>G (p.Gly460=)
18g.53386098A>TCA503875380DCCc.2415A>T (p.Gly805=)
c.2216A>T
c.2346A>T (p.Gly782=)
c.1380A>T (p.Gly460=)

Number of alleles fetched