Chr Mutation (hg38) CAid Gene Transcript Linkouts
21g.45476305dupCA10065918COL18A1c.1339-46dup (n.1339-46dup)
c.799-46dup (n.799-46dup)
c.2044-46dup (n.2044-46dup)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.45476305G>ACA2654909347COL18A1c.1339-46G>A (n.1339-46G>A)
c.799-46G>A (n.799-46G>A)
c.2044-46G>A (n.2044-46G>A)
 gnomAD v4
21g.45476305G>CCA2654909348COL18A1c.1339-46G>C (n.1339-46G>C)
c.799-46G>C (n.799-46G>C)
c.2044-46G>C (n.2044-46G>C)
 gnomAD v4
21g.45476305G=CA2392171521COL18A1c.1339-46G= (n.1339-46G=)
c.799-46G= (n.799-46G=)
c.2044-46G= (n.2044-46G=)
21g.45476305G>TCA10065921COL18A1c.1339-46G>T (n.1339-46G>T)
c.799-46G>T (n.799-46G>T)
c.2044-46G>T (n.2044-46G>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.45476306C=CA2392171522COL18A1c.1339-45C= (n.1339-45C=)
c.799-45C= (n.799-45C=)
c.2044-45C= (n.2044-45C=)
21g.45476306C>TCA321913554COL18A1c.1339-45C>T (n.1339-45C>T)
c.799-45C>T (n.799-45C>T)
c.2044-45C>T (n.2044-45C>T)
 dbSNP gnomAD v2 gnomAD v4
21g.45476307A=CA2392171523COL18A1c.1339-44A= (n.1339-44A=)
c.799-44A= (n.799-44A=)
c.2044-44A= (n.2044-44A=)
21g.45476307A>GCA10065922COL18A1c.1339-44A>G (n.1339-44A>G)
c.799-44A>G (n.799-44A>G)
c.2044-44A>G (n.2044-44A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.45476308T>CCA10065923COL18A1c.1339-43T>C (n.1339-43T>C)
c.799-43T>C (n.799-43T>C)
c.2044-43T>C (n.2044-43T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.45476308T=CA2392171524COL18A1c.1339-43T= (n.1339-43T=)
c.799-43T= (n.799-43T=)
c.2044-43T= (n.2044-43T=)
21g.45476309C>ACA2654909350COL18A1c.1339-42C>A (n.1339-42C>A)
c.799-42C>A (n.799-42C>A)
c.2044-42C>A (n.2044-42C>A)
 gnomAD v4
21g.45476310T>ACA321913559COL18A1c.1339-41T>A (n.1339-41T>A)
c.799-41T>A (n.799-41T>A)
c.2044-41T>A (n.2044-41T>A)
 dbSNP gnomAD v4
21g.45476310T=CA2392171525COL18A1c.1339-41T= (n.1339-41T=)
c.799-41T= (n.799-41T=)
c.2044-41T= (n.2044-41T=)
21g.45476313C>ACA2654909351COL18A1c.1339-38C>A (n.1339-38C>A)
c.799-38C>A (n.799-38C>A)
c.2044-38C>A (n.2044-38C>A)
 gnomAD v4
21g.45476313C=CA2392171526COL18A1c.1339-38C= (n.1339-38C=)
c.799-38C= (n.799-38C=)
c.2044-38C= (n.2044-38C=)
21g.45476313C>TCA10065924COL18A1c.1339-38C>T (n.1339-38C>T)
c.799-38C>T (n.799-38C>T)
c.2044-38C>T (n.2044-38C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.45476314G>ACA10065925COL18A1c.1339-37G>A (n.1339-37G>A)
c.799-37G>A (n.799-37G>A)
c.2044-37G>A (n.2044-37G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.45476314G>CCA2577626018COL18A1c.1339-37G>C (n.1339-37G>C)
c.799-37G>C (n.799-37G>C)
c.2044-37G>C (n.2044-37G>C)
21g.45476314G=CA2392171527COL18A1c.1339-37G= (n.1339-37G=)
c.799-37G= (n.799-37G=)
c.2044-37G= (n.2044-37G=)
21g.45476314G>TCA2654909352COL18A1c.1339-37G>T (n.1339-37G>T)
c.799-37G>T (n.799-37G>T)
c.2044-37G>T (n.2044-37G>T)
 gnomAD v4
21g.45476315G>ACA10065926COL18A1c.1339-36G>A (n.1339-36G>A)
c.799-36G>A (n.799-36G>A)
c.2044-36G>A (n.2044-36G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.45476315G=CA2392171529COL18A1c.1339-36G= (n.1339-36G=)
c.799-36G= (n.799-36G=)
c.2044-36G= (n.2044-36G=)
21g.45476315_45476316delinsGCCA2392171528COL18A1c.1339-36_1339-35delinsGC (n.1339-36_1339-35delinsGC)
c.799-36_799-35delinsGC (n.799-36_799-35delinsGC)
c.2044-36_2044-35delinsGC (n.2044-36_2044-35delinsGC)
21g.45476316C>ACA2392171531COL18A1c.1339-35C>A (n.1339-35C>A)
c.799-35C>A (n.799-35C>A)
c.2044-35C>A (n.2044-35C>A)
 dbSNP
21g.45476316C=CA2392171530COL18A1c.1339-35C= (n.1339-35C=)
c.799-35C= (n.799-35C=)
c.2044-35C= (n.2044-35C=)
21g.45476316C>TCA2654909353COL18A1c.1339-35C>T (n.1339-35C>T)
c.799-35C>T (n.799-35C>T)
c.2044-35C>T (n.2044-35C>T)
 gnomAD v4
21g.45476317delCA749792170COL18A1c.1339-34del (n.1339-34del)
c.799-34del (n.799-34del)
c.2044-34del (n.2044-34del)
 dbSNP
21g.45476317C=CA2392171532COL18A1c.1339-34C= (n.1339-34C=)
c.799-34C= (n.799-34C=)
c.2044-34C= (n.2044-34C=)
21g.45476317C>TCA10065927COL18A1c.1339-34C>T (n.1339-34C>T)
c.799-34C>T (n.799-34C>T)
c.2044-34C>T (n.2044-34C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.45476318G>ACA10065928COL18A1c.1339-33G>A (n.1339-33G>A)
c.799-33G>A (n.799-33G>A)
c.2044-33G>A (n.2044-33G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.45476318G=CA2392171533COL18A1c.1339-33G= (n.1339-33G=)
c.799-33G= (n.799-33G=)
c.2044-33G= (n.2044-33G=)
21g.45476318G>TCA2654909354COL18A1c.1339-33G>T (n.1339-33G>T)
c.799-33G>T (n.799-33G>T)
c.2044-33G>T (n.2044-33G>T)
 gnomAD v4
21g.45476320A=CA2392171534COL18A1c.1339-31A= (n.1339-31A=)
c.799-31A= (n.799-31A=)
c.2044-31A= (n.2044-31A=)
21g.45476320A>GCA638496970COL18A1c.1339-31A>G (n.1339-31A>G)
c.799-31A>G (n.799-31A>G)
c.2044-31A>G (n.2044-31A>G)
 dbSNP gnomAD v2 gnomAD v4
21g.45476323A>GCA2654909355COL18A1c.1339-28A>G (n.1339-28A>G)
c.799-28A>G (n.799-28A>G)
c.2044-28A>G (n.2044-28A>G)
 gnomAD v4
21g.45476324C>ACA2654909356COL18A1c.1339-27C>A (n.1339-27C>A)
c.799-27C>A (n.799-27C>A)
c.2044-27C>A (n.2044-27C>A)
 gnomAD v4
21g.45476327G>ACA2392171535COL18A1c.1339-24G>A (n.1339-24G>A)
c.799-24G>A (n.799-24G>A)
c.2044-24G>A (n.2044-24G>A)
 dbSNP gnomAD v4
21g.45476327G>CCA10065929COL18A1c.1339-24G>C (n.1339-24G>C)
c.799-24G>C (n.799-24G>C)
c.2044-24G>C (n.2044-24G>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
21g.45476327G=CA2392171536COL18A1c.1339-24G= (n.1339-24G=)
c.799-24G= (n.799-24G=)
c.2044-24G= (n.2044-24G=)
21g.45476328C=CA2392171537COL18A1c.1339-23C= (n.1339-23C=)
c.799-23C= (n.799-23C=)
c.2044-23C= (n.2044-23C=)
21g.45476328C>TCA749792174COL18A1c.1339-23C>T (n.1339-23C>T)
c.799-23C>T (n.799-23C>T)
c.2044-23C>T (n.2044-23C>T)
 dbSNP gnomAD v4
21g.45476330A=CA2392171538COL18A1c.1339-21A= (n.1339-21A=)
c.799-21A= (n.799-21A=)
c.2044-21A= (n.2044-21A=)
21g.45476331C>GCA2737714445COL18A1c.1339-20C>G (n.1339-20C>G)
c.799-20C>G (n.799-20C>G)
c.2044-20C>G (n.2044-20C>G)
 dbSNP
21g.45476331C>TCA2573157568COL18A1c.1339-20C>T (n.1339-20C>T)
c.799-20C>T (n.799-20C>T)
c.2044-20C>T (n.2044-20C>T)
 ClinVar dbSNP
21g.45476333_45476335dupCA1022796885COL18A1c.1339-18_1339-16dup (n.1339-18_1339-16dup)
c.799-18_799-16dup (n.799-18_799-16dup)
c.2044-18_2044-16dup (n.2044-18_2044-16dup)
 dbSNP gnomAD v3 gnomAD v4
21g.45476332C=CA2392171539COL18A1c.1339-19C= (n.1339-19C=)
c.799-19C= (n.799-19C=)
c.2044-19C= (n.2044-19C=)
21g.45476332C>TCA2392171540COL18A1c.1339-19C>T (n.1339-19C>T)
c.799-19C>T (n.799-19C>T)
c.2044-19C>T (n.2044-19C>T)
 dbSNP
21g.45476333T>CCA10065930COL18A1c.1339-18T>C (n.1339-18T>C)
c.799-18T>C (n.799-18T>C)
c.2044-18T>C (n.2044-18T>C)
 dbSNP ExAC gnomAD v2
21g.45476333T=CA2392171541COL18A1c.1339-18T= (n.1339-18T=)
c.799-18T= (n.799-18T=)
c.2044-18T= (n.2044-18T=)
21g.45476334C>ACA638496971COL18A1c.1339-17C>A (n.1339-17C>A)
c.799-17C>A (n.799-17C>A)
c.2044-17C>A (n.2044-17C>A)
 dbSNP gnomAD v2 gnomAD v4
21g.45476334C=CA2392171542COL18A1c.1339-17C= (n.1339-17C=)
c.799-17C= (n.799-17C=)
c.2044-17C= (n.2044-17C=)
21g.45476334C>TCA2392171543COL18A1c.1339-17C>T (n.1339-17C>T)
c.799-17C>T (n.799-17C>T)
c.2044-17C>T (n.2044-17C>T)
 dbSNP gnomAD v4
21g.45476335C=CA2392171544COL18A1c.1339-16C= (n.1339-16C=)
c.799-16C= (n.799-16C=)
c.2044-16C= (n.2044-16C=)
21g.45476335C>GCA2577626019COL18A1c.1339-16C>G (n.1339-16C>G)
c.799-16C>G (n.799-16C>G)
c.2044-16C>G (n.2044-16C>G)
21g.45476335C>TCA638496972COL18A1c.1339-16C>T (n.1339-16C>T)
c.799-16C>T (n.799-16C>T)
c.2044-16C>T (n.2044-16C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v4
21g.45476336C>ACA2654909358COL18A1c.1339-15C>A (n.1339-15C>A)
c.799-15C>A (n.799-15C>A)
c.2044-15C>A (n.2044-15C>A)
 gnomAD v4
21g.45476336C=CA2392171545COL18A1c.1339-15C= (n.1339-15C=)
c.799-15C= (n.799-15C=)
c.2044-15C= (n.2044-15C=)
21g.45476336C>TCA638496973COL18A1c.1339-15C>T (n.1339-15C>T)
c.799-15C>T (n.799-15C>T)
c.2044-15C>T (n.2044-15C>T)
 dbSNP gnomAD v2 gnomAD v4
21g.45476337C>ACA10065931COL18A1c.1339-14C>A (n.1339-14C>A)
c.799-14C>A (n.799-14C>A)
c.2044-14C>A (n.2044-14C>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
21g.45476337C=CA2392171546COL18A1c.1339-14C= (n.1339-14C=)
c.799-14C= (n.799-14C=)
c.2044-14C= (n.2044-14C=)
21g.45476337C>GCA749792179COL18A1c.1339-14C>G (n.1339-14C>G)
c.799-14C>G (n.799-14C>G)
c.2044-14C>G (n.2044-14C>G)
 dbSNP gnomAD v4
21g.45476337C>TCA2392171547COL18A1c.1339-14C>T (n.1339-14C>T)
c.799-14C>T (n.799-14C>T)
c.2044-14C>T (n.2044-14C>T)
 ClinVar dbSNP gnomAD v4
21g.45476339C=CA2392171548COL18A1c.1339-12C= (n.1339-12C=)
c.799-12C= (n.799-12C=)
c.2044-12C= (n.2044-12C=)
21g.45476339C>GCA2654909359COL18A1c.1339-12C>G (n.1339-12C>G)
c.799-12C>G (n.799-12C>G)
c.2044-12C>G (n.2044-12C>G)
 gnomAD v4
21g.45476339C>TCA10065932COL18A1c.1339-12C>T (n.1339-12C>T)
c.799-12C>T (n.799-12C>T)
c.2044-12C>T (n.2044-12C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.45476341C=CA2392171549COL18A1c.1339-10C= (n.1339-10C=)
c.799-10C= (n.799-10C=)
c.2044-10C= (n.2044-10C=)
21g.45476341C>GCA2654909360COL18A1c.1339-10C>G (n.1339-10C>G)
c.799-10C>G (n.799-10C>G)
c.2044-10C>G (n.2044-10C>G)
 gnomAD v4
21g.45476341C>TCA10065933COL18A1c.1339-10C>T (n.1339-10C>T)
c.799-10C>T (n.799-10C>T)
c.2044-10C>T (n.2044-10C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.45476342G>ACA10065934COL18A1c.1339-9G>A (n.1339-9G>A)
c.799-9G>A (n.799-9G>A)
c.2044-9G>A (n.2044-9G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.45476342G=CA2392171550COL18A1c.1339-9G= (n.1339-9G=)
c.799-9G= (n.799-9G=)
c.2044-9G= (n.2044-9G=)
21g.45476343T>ACA2392171552COL18A1c.1339-8T>A (n.1339-8T>A)
c.799-8T>A (n.799-8T>A)
c.2044-8T>A (n.2044-8T>A)
 dbSNP gnomAD v4
21g.45476343T>CCA2654909362COL18A1c.1339-8T>C (n.1339-8T>C)
c.799-8T>C (n.799-8T>C)
c.2044-8T>C (n.2044-8T>C)
 gnomAD v4
21g.45476343T=CA2392171551COL18A1c.1339-8T= (n.1339-8T=)
c.799-8T= (n.799-8T=)
c.2044-8T= (n.2044-8T=)
21g.45476344C=CA2392171553COL18A1c.1339-7C= (n.1339-7C=)
c.799-7C= (n.799-7C=)
c.2044-7C= (n.2044-7C=)
21g.45476344C>TCA2392171554COL18A1c.1339-7C>T (n.1339-7C>T)
c.799-7C>T (n.799-7C>T)
c.2044-7C>T (n.2044-7C>T)
 dbSNP
21g.45476345C=CA2392171555COL18A1c.1339-6C= (n.1339-6C=)
c.799-6C= (n.799-6C=)
c.2044-6C= (n.2044-6C=)
21g.45476345C>TCA638496974COL18A1c.1339-6C>T (n.1339-6C>T)
c.799-6C>T (n.799-6C>T)
c.2044-6C>T (n.2044-6C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
21g.45476346T>ACA749792181COL18A1c.1339-5T>A (n.1339-5T>A)
c.799-5T>A (n.799-5T>A)
c.2044-5T>A (n.2044-5T>A)
 dbSNP gnomAD v4
21g.45476346T=CA2392171556COL18A1c.1339-5T= (n.1339-5T=)
c.799-5T= (n.799-5T=)
c.2044-5T= (n.2044-5T=)
21g.45476347C>GCA2737714541COL18A1c.1339-4C>G (n.1339-4C>G)
c.799-4C>G (n.799-4C>G)
c.2044-4C>G (n.2044-4C>G)
 dbSNP
21g.45476348C=CA2392171557COL18A1c.1339-3C= (n.1339-3C=)
c.799-3C= (n.799-3C=)
c.2044-3C= (n.2044-3C=)
21g.45476348C>GCA10065935COL18A1c.1339-3C>G (n.1339-3C>G)
c.799-3C>G (n.799-3C>G)
c.2044-3C>G (n.2044-3C>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.45476348C>TCA2654909363COL18A1c.1339-3C>T (n.1339-3C>T)
c.799-3C>T (n.799-3C>T)
c.2044-3C>T (n.2044-3C>T)
 gnomAD v4
21g.45476349A>CCA410514254COL18A1c.1339-2A>C (n.1339-2A>C)
c.799-2A>C (n.799-2A>C)
c.2044-2A>C (n.2044-2A>C)
21g.45476349A>GCA410514255COL18A1c.1339-2A>G (n.1339-2A>G)
c.799-2A>G (n.799-2A>G)
c.2044-2A>G (n.2044-2A>G)
21g.45476349A>TCA410514252COL18A1c.1339-2A>T (n.1339-2A>T)
c.799-2A>T (n.799-2A>T)
c.2044-2A>T (n.2044-2A>T)
21g.45476350G>ACA321913581COL18A1c.1339-1G>A (n.1339-1G>A)
c.799-1G>A (n.799-1G>A)
c.2044-1G>A (n.2044-1G>A)
 dbSNP gnomAD v3 gnomAD v4
21g.45476350G>CCA410514258COL18A1c.1339-1G>C (n.1339-1G>C)
c.799-1G>C (n.799-1G>C)
c.2044-1G>C (n.2044-1G>C)
21g.45476350G=CA2392171558COL18A1c.1339-1G= (n.1339-1G=)
c.799-1G= (n.799-1G=)
c.2044-1G= (n.2044-1G=)
21g.45476350G>TCA410514259COL18A1c.1339-1G>T (n.1339-1G>T)
c.799-1G>T (n.799-1G>T)
c.2044-1G>T (n.2044-1G>T)
21g.45476351G>ACA410514260COL18A1c.1339G>A (p.Gly447Ser)
c.799G>A (p.Gly267Ser)
c.2044G>A (p.Gly682Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
21g.45476351G>CCA410514262COL18A1c.1339G>C (p.Gly447Arg)
c.799G>C (p.Gly267Arg)
c.2044G>C (p.Gly682Arg)
21g.45476351G=CA2392171559COL18A1c.1339G= (p.Gly447=)
c.799G= (p.Gly267=)
c.2044G= (p.Gly682=)
21g.45476351G>TCA410514264COL18A1c.1339G>T (p.Gly447Cys)
c.799G>T (p.Gly267Cys)
c.2044G>T (p.Gly682Cys)
21g.45476352G>ACA410514265COL18A1c.1340G>A (p.Gly447Asp)
c.800G>A (p.Gly267Asp)
c.2045G>A (p.Gly682Asp)
 dbSNP gnomAD v2
21g.45476352G>CCA410514270COL18A1c.1340G>C (p.Gly447Ala)
c.800G>C (p.Gly267Ala)
c.2045G>C (p.Gly682Ala)
21g.45476352G=CA2392171560COL18A1c.1340G= (p.Gly447=)
c.800G= (p.Gly267=)
c.2045G= (p.Gly682=)
21g.45476352G>TCA410514268COL18A1c.1340G>T (p.Gly447Val)
c.800G>T (p.Gly267Val)
c.2045G>T (p.Gly682Val)
21g.45476353C>ACA512709362COL18A1c.1341C>A (p.Gly447=)
c.801C>A (p.Gly267=)
c.2046C>A (p.Gly682=)
 gnomAD v4
21g.45476353C=CA2392171561COL18A1c.1341C= (p.Gly447=)
c.801C= (p.Gly267=)
c.2046C= (p.Gly682=)
21g.45476353C>GCA512709360COL18A1c.1341C>G (p.Gly447=)
c.801C>G (p.Gly267=)
c.2046C>G (p.Gly682=)
21g.45476353C>TCA10065936COL18A1c.1341C>T (p.Gly447=)
c.801C>T (p.Gly267=)
c.2046C>T (p.Gly682=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.45476354G>ACA10065937COL18A1c.1342G>A (p.Ala448Thr)
c.802G>A (p.Ala268Thr)
c.2047G>A (p.Ala683Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.45476354G>CCA410514272COL18A1c.1342G>C (p.Ala448Pro)
c.802G>C (p.Ala268Pro)
c.2047G>C (p.Ala683Pro)
 gnomAD v4
21g.45476354G=CA2392171562COL18A1c.1342G= (p.Ala448=)
c.802G= (p.Ala268=)
c.2047G= (p.Ala683=)
21g.45476354G>TCA410514274COL18A1c.1342G>T (p.Ala448Ser)
c.802G>T (p.Ala268Ser)
c.2047G>T (p.Ala683Ser)
21g.45476355C>ACA10065939COL18A1c.1343C>A (p.Ala448Glu)
c.803C>A (p.Ala268Glu)
c.2048C>A (p.Ala683Glu)
 dbSNP ExAC gnomAD v4
21g.45476355C=CA2392171563COL18A1c.1343C= (p.Ala448=)
c.803C= (p.Ala268=)
c.2048C= (p.Ala683=)
21g.45476355C>GCA410514276COL18A1c.1343C>G (p.Ala448Gly)
c.803C>G (p.Ala268Gly)
c.2048C>G (p.Ala683Gly)
21g.45476355C>TCA10065938COL18A1c.1343C>T (p.Ala448Val)
c.803C>T (p.Ala268Val)
c.2048C>T (p.Ala683Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
21g.45476356G>ACA10065940COL18A1c.1344G>A (p.Ala448=)
c.804G>A (p.Ala268=)
c.2049G>A (p.Ala683=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.45476356G>CCA512709382COL18A1c.1344G>C (p.Ala448=)
c.804G>C (p.Ala268=)
c.2049G>C (p.Ala683=)
21g.45476356G=CA2392171564COL18A1c.1344G= (p.Ala448=)
c.804G= (p.Ala268=)
c.2049G= (p.Ala683=)
21g.45476356G>TCA512709380COL18A1c.1344G>T (p.Ala448=)
c.804G>T (p.Ala268=)
c.2049G>T (p.Ala683=)
21g.45476357G>ACA410514277COL18A1c.1345G>A (p.Ala449Thr)
c.805G>A (p.Ala269Thr)
c.2050G>A (p.Ala684Thr)
 COSMIC COSMIC
21g.45476357G>CCA410514278COL18A1c.1345G>C (p.Ala449Pro)
c.805G>C (p.Ala269Pro)
c.2050G>C (p.Ala684Pro)
21g.45476357G>TCA410514280COL18A1c.1345G>T (p.Ala449Ser)
c.805G>T (p.Ala269Ser)
c.2050G>T (p.Ala684Ser)
21g.45476357_45476358delinsGCCA2392171565COL18A1c.1345_1346delinsGC (p.Ala449=)
c.805_806delinsGC (p.Ala269=)
c.2050_2051delinsGC (p.Ala684=)
21g.45476358C>ACA410514281COL18A1c.1346C>A (p.Ala449Asp)
c.806C>A (p.Ala269Asp)
c.2051C>A (p.Ala684Asp)
21g.45476358C>GCA410514282COL18A1c.1346C>G (p.Ala449Gly)
c.806C>G (p.Ala269Gly)
c.2051C>G (p.Ala684Gly)
21g.45476358C>TCA410514283COL18A1c.1346C>T (p.Ala449Val)
c.806C>T (p.Ala269Val)
c.2051C>T (p.Ala684Val)
21g.45476360delCA638496975COL18A1c.1348del (p.Leu450Ter)
c.808del (p.Leu270Ter)
c.2053del (p.Leu685Ter)
 dbSNP gnomAD v2 gnomAD v4
21g.45476359C>ACA512709399COL18A1c.1347C>A (p.Ala449=)
c.807C>A (p.Ala269=)
c.2052C>A (p.Ala684=)
 gnomAD v4
21g.45476359C>GCA512709396COL18A1c.1347C>G (p.Ala449=)
c.807C>G (p.Ala269=)
c.2052C>G (p.Ala684=)
21g.45476359C>TCA512709394COL18A1c.1347C>T (p.Ala449=)
c.807C>T (p.Ala269=)
c.2052C>T (p.Ala684=)
21g.45476360C>ACA410514285COL18A1c.1348C>A (p.Leu450Ile)
c.808C>A (p.Leu270Ile)
c.2053C>A (p.Leu685Ile)
21g.45476360C=CA2392171566COL18A1c.1348C= (p.Leu450=)
c.808C= (p.Leu270=)
c.2053C= (p.Leu685=)
21g.45476360C>GCA321913593COL18A1c.1348C>G (p.Leu450Val)
c.808C>G (p.Leu270Val)
c.2053C>G (p.Leu685Val)
 ClinVar dbSNP gnomAD v4
21g.45476360C>TCA512709403COL18A1c.1348C>T (p.Leu450=)
c.808C>T (p.Leu270=)
c.2053C>T (p.Leu685=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
21g.45476361T>ACA410514287COL18A1c.1349T>A (p.Leu450Gln)
c.809T>A (p.Leu270Gln)
c.2054T>A (p.Leu685Gln)
21g.45476361T>CCA410514289COL18A1c.1349T>C (p.Leu450Pro)
c.809T>C (p.Leu270Pro)
c.2054T>C (p.Leu685Pro)
21g.45476361T>GCA410514290COL18A1c.1349T>G (p.Leu450Arg)
c.809T>G (p.Leu270Arg)
c.2054T>G (p.Leu685Arg)
21g.45476362A=CA2392171567COL18A1c.1350A= (p.Leu450=)
c.810A= (p.Leu270=)
c.2055A= (p.Leu685=)
21g.45476362A>CCA512709412COL18A1c.1350A>C (p.Leu450=)
c.810A>C (p.Leu270=)
c.2055A>C (p.Leu685=)
21g.45476362A>GCA512709414COL18A1c.1350A>G (p.Leu450=)
c.810A>G (p.Leu270=)
c.2055A>G (p.Leu685=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
21g.45476362A>TCA512709411COL18A1c.1350A>T (p.Leu450=)
c.810A>T (p.Leu270=)
c.2055A>T (p.Leu685=)
21g.45476363A>CCA410514293COL18A1c.1351A>C (p.Lys451Gln)
c.811A>C (p.Lys271Gln)
c.2056A>C (p.Lys686Gln)
21g.45476363A>GCA410514294COL18A1c.1351A>G (p.Lys451Glu)
c.811A>G (p.Lys271Glu)
c.2056A>G (p.Lys686Glu)
21g.45476363A>TCA410514292COL18A1c.1351A>T (p.Lys451Ter)
c.811A>T (p.Lys271Ter)
c.2056A>T (p.Lys686Ter)
21g.45476364A>CCA410514298COL18A1c.1352A>C (p.Lys451Thr)
c.812A>C (p.Lys271Thr)
c.2057A>C (p.Lys686Thr)
21g.45476364A>GCA410514296COL18A1c.1352A>G (p.Lys451Arg)
c.812A>G (p.Lys271Arg)
c.2057A>G (p.Lys686Arg)
21g.45476364A>TCA410514297COL18A1c.1352A>T (p.Lys451Ile)
c.812A>T (p.Lys271Ile)
c.2057A>T (p.Lys686Ile)
21g.45476365A>CCA410514300COL18A1c.1353A>C (p.Lys451Asn)
c.813A>C (p.Lys271Asn)
c.2058A>C (p.Lys686Asn)
 dbSNP
21g.45476365A>GCA512709428COL18A1c.1353A>G (p.Lys451=)
c.813A>G (p.Lys271=)
c.2058A>G (p.Lys686=)
 gnomAD v4
21g.45476365A>TCA410514303COL18A1c.1353A>T (p.Lys451Asn)
c.813A>T (p.Lys271Asn)
c.2058A>T (p.Lys686Asn)
21g.45476366C>ACA10065941COL18A1c.1354C>A (p.Pro452Thr)
c.814C>A (p.Pro272Thr)
c.2059C>A (p.Pro687Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
21g.45476366C=CA2392171568COL18A1c.1354C= (p.Pro452=)
c.814C= (p.Pro272=)
c.2059C= (p.Pro687=)
21g.45476366C>GCA410514304COL18A1c.1354C>G (p.Pro452Ala)
c.814C>G (p.Pro272Ala)
c.2059C>G (p.Pro687Ala)
 gnomAD v4
21g.45476366C>TCA410514306COL18A1c.1354C>T (p.Pro452Ser)
c.814C>T (p.Pro272Ser)
c.2059C>T (p.Pro687Ser)
21g.45476367C>ACA410514308COL18A1c.1355C>A (p.Pro452His)
c.815C>A (p.Pro272His)
c.2060C>A (p.Pro687His)
21g.45476367C>GCA410514311COL18A1c.1355C>G (p.Pro452Arg)
c.815C>G (p.Pro272Arg)
c.2060C>G (p.Pro687Arg)
 gnomAD v4
21g.45476367C>TCA410514312COL18A1c.1355C>T (p.Pro452Leu)
c.815C>T (p.Pro272Leu)
c.2060C>T (p.Pro687Leu)
21g.45476368C>ACA512709441COL18A1c.1356C>A (p.Pro452=)
c.816C>A (p.Pro272=)
c.2061C>A (p.Pro687=)
21g.45476368C>GCA512709443COL18A1c.1356C>G (p.Pro452=)
c.816C>G (p.Pro272=)
c.2061C>G (p.Pro687=)
21g.45476368C>TCA512709445COL18A1c.1356C>T (p.Pro452=)
c.816C>T (p.Pro272=)
c.2061C>T (p.Pro687=)
21g.45476369A>CCA512709447COL18A1c.1357A>C (p.Arg453=)
c.817A>C (p.Arg273=)
c.2062A>C (p.Arg688=)
 gnomAD v4
21g.45476369A>GCA410514315COL18A1c.1357A>G (p.Arg453Gly)
c.817A>G (p.Arg273Gly)
c.2062A>G (p.Arg688Gly)
21g.45476369A>TCA410514316COL18A1c.1357A>T (p.Arg453Trp)
c.817A>T (p.Arg273Trp)
c.2062A>T (p.Arg688Trp)
21g.45476370G>ACA410514319COL18A1c.1358G>A (p.Arg453Lys)
c.818G>A (p.Arg273Lys)
c.2063G>A (p.Arg688Lys)
21g.45476370G>CCA410514318COL18A1c.1358G>C (p.Arg453Thr)
c.818G>C (p.Arg273Thr)
c.2063G>C (p.Arg688Thr)
21g.45476370G>TCA410514317COL18A1c.1358G>T (p.Arg453Met)
c.818G>T (p.Arg273Met)
c.2063G>T (p.Arg688Met)
21g.45476371G>ACA512709458COL18A1c.1359G>A (p.Arg453=)
c.819G>A (p.Arg273=)
c.2064G>A (p.Arg688=)
21g.45476371G>CCA410514320COL18A1c.1359G>C (p.Arg453Ser)
c.819G>C (p.Arg273Ser)
c.2064G>C (p.Arg688Ser)
21g.45476371G>TCA410514321COL18A1c.1359G>T (p.Arg453Ser)
c.819G>T (p.Arg273Ser)
c.2064G>T (p.Arg688Ser)
21g.45476372C>ACA410514322COL18A1c.1360C>A (p.Leu454Ile)
c.820C>A (p.Leu274Ile)
c.2065C>A (p.Leu689Ile)
21g.45476372C>GCA410514323COL18A1c.1360C>G (p.Leu454Val)
c.820C>G (p.Leu274Val)
c.2065C>G (p.Leu689Val)
21g.45476372C>TCA410514324COL18A1c.1360C>T (p.Leu454Phe)
c.820C>T (p.Leu274Phe)
c.2065C>T (p.Leu689Phe)
 gnomAD v4
21g.45476373T>ACA410514325COL18A1c.1361T>A (p.Leu454His)
c.821T>A (p.Leu274His)
c.2066T>A (p.Leu689His)
21g.45476373T>CCA410514326COL18A1c.1361T>C (p.Leu454Pro)
c.821T>C (p.Leu274Pro)
c.2066T>C (p.Leu689Pro)
21g.45476373T>GCA410514327COL18A1c.1361T>G (p.Leu454Arg)
c.821T>G (p.Leu274Arg)
c.2066T>G (p.Leu689Arg)
21g.45476374C>ACA512709471COL18A1c.1362C>A (p.Leu454=)
c.822C>A (p.Leu274=)
c.2067C>A (p.Leu689=)
21g.45476374C=CA2392171569COL18A1c.1362C= (p.Leu454=)
c.822C= (p.Leu274=)
c.2067C= (p.Leu689=)
21g.45476374C>GCA512709474COL18A1c.1362C>G (p.Leu454=)
c.822C>G (p.Leu274=)
c.2067C>G (p.Leu689=)
 dbSNP gnomAD v4
21g.45476374C>TCA10065942COL18A1c.1362C>T (p.Leu454=)
c.822C>T (p.Leu274=)
c.2067C>T (p.Leu689=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.45476375C>ACA410514328COL18A1c.1363C>A (p.Pro455Thr)
c.823C>A (p.Pro275Thr)
c.2068C>A (p.Pro690Thr)
21g.45476375C=CA2392171570COL18A1c.1363C= (p.Pro455=)
c.823C= (p.Pro275=)
c.2068C= (p.Pro690=)
21g.45476375C>GCA410514329COL18A1c.1363C>G (p.Pro455Ala)
c.823C>G (p.Pro275Ala)
c.2068C>G (p.Pro690Ala)
21g.45476375C>TCA10065943COL18A1c.1363C>T (p.Pro455Ser)
c.823C>T (p.Pro275Ser)
c.2068C>T (p.Pro690Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
21g.45476376C>ACA10065945COL18A1c.1364C>A (p.Pro455His)
c.824C>A (p.Pro275His)
c.2069C>A (p.Pro690His)
 dbSNP ExAC gnomAD v2 gnomAD v4
21g.45476376C=CA2392171571COL18A1c.1364C= (p.Pro455=)
c.824C= (p.Pro275=)
c.2069C= (p.Pro690=)
21g.45476376C>GCA410514331COL18A1c.1364C>G (p.Pro455Arg)
c.824C>G (p.Pro275Arg)
c.2069C>G (p.Pro690Arg)
21g.45476376C>TCA410514330COL18A1c.1364C>T (p.Pro455Leu)
c.824C>T (p.Pro275Leu)
c.2069C>T (p.Pro690Leu)
21g.45476378_45476395dupCA10065944COL18A1c.1366_1383dup (p.Thr461_Thr462insAlaProProProValThr)
c.826_843dup (p.Thr281_Thr282insAlaProProProValThr)
c.2071_2088dup (p.Thr696_Thr697insAlaProProProValThr)
 dbSNP ExAC gnomAD v2 gnomAD v4
21g.45476377C>ACA10065946COL18A1c.1365C>A (p.Pro455=)
c.825C>A (p.Pro275=)
c.2070C>A (p.Pro690=)
 dbSNP ExAC
21g.45476377C=CA2392171572COL18A1c.1365C= (p.Pro455=)
c.825C= (p.Pro275=)
c.2070C= (p.Pro690=)
21g.45476377C>GCA512709490COL18A1c.1365C>G (p.Pro455=)
c.825C>G (p.Pro275=)
c.2070C>G (p.Pro690=)
 gnomAD v4
21g.45476377C>TCA10065947COL18A1c.1365C>T (p.Pro455=)
c.825C>T (p.Pro275=)
c.2070C>T (p.Pro690=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.45476378G>ACA10065948COL18A1c.1366G>A (p.Ala456Thr)
c.826G>A (p.Ala276Thr)
c.2071G>A (p.Ala691Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
21g.45476378G>CCA410514332COL18A1c.1366G>C (p.Ala456Pro)
c.826G>C (p.Ala276Pro)
c.2071G>C (p.Ala691Pro)
21g.45476378G=CA2392171573COL18A1c.1366G= (p.Ala456=)
c.826G= (p.Ala276=)
c.2071G= (p.Ala691=)
21g.45476378G>TCA410514333COL18A1c.1366G>T (p.Ala456Ser)
c.826G>T (p.Ala276Ser)
c.2071G>T (p.Ala691Ser)
21g.45476379C>ACA410514335COL18A1c.1367C>A (p.Ala456Glu)
c.827C>A (p.Ala276Glu)
c.2072C>A (p.Ala691Glu)
 dbSNP
21g.45476379C=CA2392171574COL18A1c.1367C= (p.Ala456=)
c.827C= (p.Ala276=)
c.2072C= (p.Ala691=)
21g.45476379C>GCA410514337COL18A1c.1367C>G (p.Ala456Gly)
c.827C>G (p.Ala276Gly)
c.2072C>G (p.Ala691Gly)
21g.45476379C>TCA321913610COL18A1c.1367C>T (p.Ala456Val)
c.827C>T (p.Ala276Val)
c.2072C>T (p.Ala691Val)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC
21g.45476380G>ACA10065949COL18A1c.1368G>A (p.Ala456=)
c.828G>A (p.Ala276=)
c.2073G>A (p.Ala691=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.45476380G>CCA512709503COL18A1c.1368G>C (p.Ala456=)
c.828G>C (p.Ala276=)
c.2073G>C (p.Ala691=)
21g.45476380G=CA2392171576COL18A1c.1368G= (p.Ala456=)
c.828G= (p.Ala276=)
c.2073G= (p.Ala691=)
21g.45476380G>TCA512709500COL18A1c.1368G>T (p.Ala456=)
c.828G>T (p.Ala276=)
c.2073G>T (p.Ala691=)
21g.45476380_45476391dupCA2392171575COL18A1c.1368_1379dup (p.Val460_Thr461insProProProVal)
c.828_839dup (p.Val280_Thr281insProProProVal)
c.2073_2084dup (p.Val695_Thr696insProProProVal)
 dbSNP
21g.45476381C>ACA410514343COL18A1c.1369C>A (p.Pro457Thr)
c.829C>A (p.Pro277Thr)
c.2074C>A (p.Pro692Thr)
21g.45476381C>GCA410514345COL18A1c.1369C>G (p.Pro457Ala)
c.829C>G (p.Pro277Ala)
c.2074C>G (p.Pro692Ala)
21g.45476381C>TCA410514347COL18A1c.1369C>T (p.Pro457Ser)
c.829C>T (p.Pro277Ser)
c.2074C>T (p.Pro692Ser)
 gnomAD v4
21g.45476383_45476385dupCA10065950COL18A1c.1371_1373dup (p.Pro458_Pro459insPro)
c.831_833dup (p.Pro278_Pro279insPro)
c.2076_2078dup (p.Pro693_Pro694insPro)
 dbSNP ExAC gnomAD v2 gnomAD v4
21g.45476382C>ACA410514350COL18A1c.1370C>A (p.Pro457Gln)
c.830C>A (p.Pro277Gln)
c.2075C>A (p.Pro692Gln)
21g.45476382C=CA2392171577COL18A1c.1370C= (p.Pro457=)
c.830C= (p.Pro277=)
c.2075C= (p.Pro692=)
21g.45476382C>GCA410514349COL18A1c.1370C>G (p.Pro457Arg)
c.830C>G (p.Pro277Arg)
c.2075C>G (p.Pro692Arg)
21g.45476382C>TCA10065951COL18A1c.1370C>T (p.Pro457Leu)
c.830C>T (p.Pro277Leu)
c.2075C>T (p.Pro692Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
21g.45476383A>CCA512709517COL18A1c.1371A>C (p.Pro457=)
c.831A>C (p.Pro277=)
c.2076A>C (p.Pro692=)
21g.45476383A>GCA512709522COL18A1c.1371A>G (p.Pro457=)
c.831A>G (p.Pro277=)
c.2076A>G (p.Pro692=)
 COSMIC COSMIC COSMIC
21g.45476383A>TCA512709519COL18A1c.1371A>T (p.Pro457=)
c.831A>T (p.Pro277=)
c.2076A>T (p.Pro692=)
21g.45476383_45476384delinsACCA2392171578COL18A1c.1371_1372delinsAC (p.Pro457=)
c.831_832delinsAC (p.Pro277=)
c.2076_2077delinsAC (p.Pro692=)
21g.45476384C>ACA10065953COL18A1c.1372C>A (p.Pro458Thr)
c.832C>A (p.Pro278Thr)
c.2077C>A (p.Pro693Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.45476384C=CA2392171579COL18A1c.1372C= (p.Pro458=)
c.832C= (p.Pro278=)
c.2077C= (p.Pro693=)
21g.45476384C>GCA410514351COL18A1c.1372C>G (p.Pro458Ala)
c.832C>G (p.Pro278Ala)
c.2077C>G (p.Pro693Ala)
21g.45476384C>TCA410514353COL18A1c.1372C>T (p.Pro458Ser)
c.832C>T (p.Pro278Ser)
c.2077C>T (p.Pro693Ser)
 gnomAD v4
21g.45476389dupCA10065952COL18A1c.1377dup (p.Val460ArgfsTer18)
c.837dup (p.Val280ArgfsTer18)
c.2082dup (p.Val695ArgfsTer18)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
21g.45476389delCA645602036COL18A1c.1377del (p.Val460SerfsTer29)
c.837del (p.Val280SerfsTer29)
c.2082del (p.Val695SerfsTer29)
 dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
21g.45476385C>ACA410514354COL18A1c.1373C>A (p.Pro458His)
c.833C>A (p.Pro278His)
c.2078C>A (p.Pro693His)
21g.45476385C>GCA410514359COL18A1c.1373C>G (p.Pro458Arg)
c.833C>G (p.Pro278Arg)
c.2078C>G (p.Pro693Arg)
21g.45476385C>TCA410514360COL18A1c.1373C>T (p.Pro458Leu)
c.833C>T (p.Pro278Leu)
c.2078C>T (p.Pro693Leu)
21g.45476386C>ACA512709536COL18A1c.1374C>A (p.Pro458=)
c.834C>A (p.Pro278=)
c.2079C>A (p.Pro693=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
21g.45476386C=CA2392171580COL18A1c.1374C= (p.Pro458=)
c.834C= (p.Pro278=)
c.2079C= (p.Pro693=)
21g.45476386C>GCA512709534COL18A1c.1374C>G (p.Pro458=)
c.834C>G (p.Pro278=)
c.2079C>G (p.Pro693=)
 dbSNP
21g.45476386C>TCA512709535COL18A1c.1374C>T (p.Pro458=)
c.834C>T (p.Pro278=)
c.2079C>T (p.Pro693=)
 ClinVar dbSNP
21g.45476387C>ACA410514362COL18A1c.1375C>A (p.Pro459Thr)
c.835C>A (p.Pro279Thr)
c.2080C>A (p.Pro694Thr)
21g.45476387C=CA2392171581COL18A1c.1375C= (p.Pro459=)
c.835C= (p.Pro279=)
c.2080C= (p.Pro694=)
21g.45476387C>GCA410514363COL18A1c.1375C>G (p.Pro459Ala)
c.835C>G (p.Pro279Ala)
c.2080C>G (p.Pro694Ala)
 ClinVar dbSNP gnomAD v2 gnomAD v4
21g.45476387C>TCA410514364COL18A1c.1375C>T (p.Pro459Ser)
c.835C>T (p.Pro279Ser)
c.2080C>T (p.Pro694Ser)
21g.45476388C>ACA410514365COL18A1c.1376C>A (p.Pro459His)
c.836C>A (p.Pro279His)
c.2081C>A (p.Pro694His)
21g.45476388C=CA2392171582COL18A1c.1376C= (p.Pro459=)
c.836C= (p.Pro279=)
c.2081C= (p.Pro694=)
21g.45476388C>GCA10065955COL18A1c.1376C>G (p.Pro459Arg)
c.836C>G (p.Pro279Arg)
c.2081C>G (p.Pro694Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
21g.45476388C>TCA10065954COL18A1c.1376C>T (p.Pro459Leu)
c.836C>T (p.Pro279Leu)
c.2081C>T (p.Pro694Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.45476388_45476389delinsTGCA2580098868COL18A1c.1376_1377delinsTG (p.Pro459Leu)
c.836_837delinsTG (p.Pro279Leu)
c.2081_2082delinsTG (p.Pro694Leu)
 ClinVar
21g.45476389C>ACA10065957COL18A1c.1377C>A (p.Pro459=)
c.837C>A (p.Pro279=)
c.2082C>A (p.Pro694=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.45476389C=CA2392171583COL18A1c.1377C= (p.Pro459=)
c.837C= (p.Pro279=)
c.2082C= (p.Pro694=)
21g.45476389C>GCA10065956COL18A1c.1377C>G (p.Pro459=)
c.837C>G (p.Pro279=)
c.2082C>G (p.Pro694=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.45476389C>TCA10065958COL18A1c.1377C>T (p.Pro459=)
c.837C>T (p.Pro279=)
c.2082C>T (p.Pro694=)
 dbSNP ExAC gnomAD v2 gnomAD v4
21g.45476390_45476392delCA2654909368COL18A1c.1378_1380del (p.Val460del)
c.838_840del (p.Val280del)
c.2083_2085del (p.Val695del)
 gnomAD v4
21g.45476390G>ACA10065959COL18A1c.1378G>A (p.Val460Ile)
c.838G>A (p.Val280Ile)
c.2083G>A (p.Val695Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
21g.45476390G>CCA410514369COL18A1c.1378G>C (p.Val460Leu)
c.838G>C (p.Val280Leu)
c.2083G>C (p.Val695Leu)
21g.45476390G=CA2392171584COL18A1c.1378G= (p.Val460=)
c.838G= (p.Val280=)
c.2083G= (p.Val695=)
21g.45476390G>TCA410514371COL18A1c.1378G>T (p.Val460Phe)
c.838G>T (p.Val280Phe)
c.2083G>T (p.Val695Phe)
21g.45476390dupCA638496979COL18A1c.1378dup (p.Val460GlyfsTer18)
c.838dup (p.Val280GlyfsTer18)
c.2083dup (p.Val695GlyfsTer18)
 dbSNP gnomAD v2 gnomAD v4
21g.45476391T>ACA10065960COL18A1c.1379T>A (p.Val460Asp)
c.839T>A (p.Val280Asp)
c.2084T>A (p.Val695Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.45476391T>CCA410514374COL18A1c.1379T>C (p.Val460Ala)
c.839T>C (p.Val280Ala)
c.2084T>C (p.Val695Ala)
 COSMIC
21g.45476391T>GCA410514373COL18A1c.1379T>G (p.Val460Gly)
c.839T>G (p.Val280Gly)
c.2084T>G (p.Val695Gly)
21g.45476391T=CA2392171585COL18A1c.1379T= (p.Val460=)
c.839T= (p.Val280=)
c.2084T= (p.Val695=)
21g.45476392C>ACA512709565COL18A1c.1380C>A (p.Val460=)
c.840C>A (p.Val280=)
c.2085C>A (p.Val695=)
21g.45476392C>GCA512709563COL18A1c.1380C>G (p.Val460=)
c.840C>G (p.Val280=)
c.2085C>G (p.Val695=)
21g.45476392C>TCA512709561COL18A1c.1380C>T (p.Val460=)
c.840C>T (p.Val280=)
c.2085C>T (p.Val695=)
21g.45476396_45476403dupCA2392171586COL18A1c.1384_1391dup (p.Leu465ArgfsTer27)
c.844_851dup (p.Leu285ArgfsTer27)
c.2089_2096dup (p.Leu700ArgfsTer27)
 dbSNP
21g.45476393A=CA2392171587COL18A1c.1381A= (p.Thr461=)
c.841A= (p.Thr281=)
c.2086A= (p.Thr696=)
21g.45476393A>CCA321913641COL18A1c.1381A>C (p.Thr461Pro)
c.841A>C (p.Thr281Pro)
c.2086A>C (p.Thr696Pro)
 dbSNP gnomAD v3 gnomAD v4
21g.45476393A>GCA410514378COL18A1c.1381A>G (p.Thr461Ala)
c.841A>G (p.Thr281Ala)
c.2086A>G (p.Thr696Ala)
 dbSNP
21g.45476393A>TCA410514377COL18A1c.1381A>T (p.Thr461Ser)
c.841A>T (p.Thr281Ser)
c.2086A>T (p.Thr696Ser)
21g.45476394C>ACA410514380COL18A1c.1382C>A (p.Thr461Asn)
c.842C>A (p.Thr281Asn)
c.2087C>A (p.Thr696Asn)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
21g.45476394C=CA2392171588COL18A1c.1382C= (p.Thr461=)
c.842C= (p.Thr281=)
c.2087C= (p.Thr696=)
21g.45476394C>GCA10065961COL18A1c.1382C>G (p.Thr461Ser)
c.842C>G (p.Thr281Ser)
c.2087C>G (p.Thr696Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
21g.45476394C>TCA410514381COL18A1c.1382C>T (p.Thr461Ile)
c.842C>T (p.Thr281Ile)
c.2087C>T (p.Thr696Ile)
 dbSNP
21g.45476395_45476396insGCGCCACCCCCCGTCTCCCA2573157572COL18A1c.1383_1384insGCGCCACCCCCCGTCTCC (p.Thr461_Thr462insAlaProProProValSer)
c.843_844insGCGCCACCCCCCGTCTCC (p.Thr281_Thr282insAlaProProProValSer)
c.2088_2089insGCGCCACCCCCCGTCTCC (p.Thr696_Thr697insAlaProProProValSer)
 ClinVar dbSNP
21g.45476395C>ACA512709579COL18A1c.1383C>A (p.Thr461=)
c.843C>A (p.Thr281=)
c.2088C>A (p.Thr696=)
21g.45476395C>GCA512709581COL18A1c.1383C>G (p.Thr461=)
c.843C>G (p.Thr281=)
c.2088C>G (p.Thr696=)
21g.45476395C>TCA512709577COL18A1c.1383C>T (p.Thr461=)
c.843C>T (p.Thr281=)
c.2088C>T (p.Thr696=)
21g.45476396_45476402delCA2654909370COL18A1c.1384_1390del (p.Thr462ProfsTer25)
c.844_850del (p.Thr282ProfsTer25)
c.2089_2095del (p.Thr697ProfsTer25)
 gnomAD v4
21g.45476396A=CA2392171589COL18A1c.1384A= (p.Thr462=)
c.844A= (p.Thr282=)
c.2089A= (p.Thr697=)
21g.45476396A>CCA410514382COL18A1c.1384A>C (p.Thr462Pro)
c.844A>C (p.Thr282Pro)
c.2089A>C (p.Thr697Pro)
21g.45476396A>GCA410514383COL18A1c.1384A>G (p.Thr462Ala)
c.844A>G (p.Thr282Ala)
c.2089A>G (p.Thr697Ala)
 ClinVar dbSNP gnomAD v3 gnomAD v4
21g.45476396A>TCA410514384COL18A1c.1384A>T (p.Thr462Ser)
c.844A>T (p.Thr282Ser)
c.2089A>T (p.Thr697Ser)
21g.45476397C>ACA410514385COL18A1c.1385C>A (p.Thr462Lys)
c.845C>A (p.Thr282Lys)
c.2090C>A (p.Thr697Lys)
21g.45476397C=CA2392171590COL18A1c.1385C= (p.Thr462=)
c.845C= (p.Thr282=)
c.2090C= (p.Thr697=)
21g.45476397C>GCA410514386COL18A1c.1385C>G (p.Thr462Arg)
c.845C>G (p.Thr282Arg)
c.2090C>G (p.Thr697Arg)
21g.45476397C>TCA10065962COL18A1c.1385C>T (p.Thr462Met)
c.845C>T (p.Thr282Met)
c.2090C>T (p.Thr697Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.45476398G>ACA10065964COL18A1c.1386G>A (p.Thr462=)
c.846G>A (p.Thr282=)
c.2091G>A (p.Thr697=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.45476398G>CCA321913652COL18A1c.1386G>C (p.Thr462=)
c.846G>C (p.Thr282=)
c.2091G>C (p.Thr697=)
 dbSNP
21g.45476398G=CA2392171591COL18A1c.1386G= (p.Thr462=)
c.846G= (p.Thr282=)
c.2091G= (p.Thr697=)
21g.45476398G>TCA10065963COL18A1c.1386G>T (p.Thr462=)
c.846G>T (p.Thr282=)
c.2091G>T (p.Thr697=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.45476399C>ACA410514391COL18A1c.1387C>A (p.Pro463Thr)
c.847C>A (p.Pro283Thr)
c.2092C>A (p.Pro698Thr)
 gnomAD v4
21g.45476399C=CA2392171592COL18A1c.1387C= (p.Pro463=)
c.847C= (p.Pro283=)
c.2092C= (p.Pro698=)
21g.45476399C>GCA10065965COL18A1c.1387C>G (p.Pro463Ala)
c.847C>G (p.Pro283Ala)
c.2092C>G (p.Pro698Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.45476399C>TCA410514393COL18A1c.1387C>T (p.Pro463Ser)
c.847C>T (p.Pro283Ser)
c.2092C>T (p.Pro698Ser)
21g.45476400C>ACA410514394COL18A1c.1388C>A (p.Pro463Gln)
c.848C>A (p.Pro283Gln)
c.2093C>A (p.Pro698Gln)
21g.45476400C>GCA410514397COL18A1c.1388C>G (p.Pro463Arg)
c.848C>G (p.Pro283Arg)
c.2093C>G (p.Pro698Arg)
21g.45476400C>TCA410514395COL18A1c.1388C>T (p.Pro463Leu)
c.848C>T (p.Pro283Leu)
c.2093C>T (p.Pro698Leu)
21g.45476401A=CA2392171593COL18A1c.1389A= (p.Pro463=)
c.849A= (p.Pro283=)
c.2094A= (p.Pro698=)
21g.45476401A>CCA10065966COL18A1c.1389A>C (p.Pro463=)
c.849A>C (p.Pro283=)
c.2094A>C (p.Pro698=)
 dbSNP ExAC gnomAD v2 gnomAD v4
21g.45476401A>GCA512709612COL18A1c.1389A>G (p.Pro463=)
c.849A>G (p.Pro283=)
c.2094A>G (p.Pro698=)
21g.45476401A>TCA512709610COL18A1c.1389A>T (p.Pro463=)
c.849A>T (p.Pro283=)
c.2094A>T (p.Pro698=)
21g.45476402C>ACA410514399COL18A1c.1390C>A (p.Pro464Thr)
c.850C>A (p.Pro284Thr)
c.2095C>A (p.Pro699Thr)
21g.45476402C=CA2392171594COL18A1c.1390C= (p.Pro464=)
c.850C= (p.Pro284=)
c.2095C= (p.Pro699=)
21g.45476402C>GCA410514401COL18A1c.1390C>G (p.Pro464Ala)
c.850C>G (p.Pro284Ala)
c.2095C>G (p.Pro699Ala)
21g.45476402C>TCA10065967COL18A1c.1390C>T (p.Pro464Ser)
c.850C>T (p.Pro284Ser)
c.2095C>T (p.Pro699Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.45476403C>ACA410514403COL18A1c.1391C>A (p.Pro464His)
c.851C>A (p.Pro284His)
c.2096C>A (p.Pro699His)
21g.45476403C=CA2392171595COL18A1c.1391C= (p.Pro464=)
c.851C= (p.Pro284=)
c.2096C= (p.Pro699=)
21g.45476403C>GCA410514404COL18A1c.1391C>G (p.Pro464Arg)
c.851C>G (p.Pro284Arg)
c.2096C>G (p.Pro699Arg)
21g.45476403C>TCA410514406COL18A1c.1391C>T (p.Pro464Leu)
c.851C>T (p.Pro284Leu)
c.2096C>T (p.Pro699Leu)
 dbSNP gnomAD v2
21g.45476404C>ACA512709626COL18A1c.1392C>A (p.Pro464=)
c.852C>A (p.Pro284=)
c.2097C>A (p.Pro699=)
 gnomAD v4
21g.45476404C=CA2392171596COL18A1c.1392C= (p.Pro464=)
c.852C= (p.Pro284=)
c.2097C= (p.Pro699=)
21g.45476404C>GCA512709630COL18A1c.1392C>G (p.Pro464=)
c.852C>G (p.Pro284=)
c.2097C>G (p.Pro699=)
21g.45476404C>TCA512709628COL18A1c.1392C>T (p.Pro464=)
c.852C>T (p.Pro284=)
c.2097C>T (p.Pro699=)
 dbSNP gnomAD v2 COSMIC COSMIC
21g.45476405T>ACA410514407COL18A1c.1393T>A (p.Leu465Met)
c.853T>A (p.Leu285Met)
c.2098T>A (p.Leu700Met)
21g.45476405T>CCA512709635COL18A1c.1393T>C (p.Leu465=)
c.853T>C (p.Leu285=)
c.2098T>C (p.Leu700=)
21g.45476405T>GCA410514409COL18A1c.1393T>G (p.Leu465Val)
c.853T>G (p.Leu285Val)
c.2098T>G (p.Leu700Val)

Number of alleles fetched