Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.89919740_89919753delinsCGCGGCGAGCCGTTCA2242009578MC1Rc.482_495delinsCGCGGCGAGCCGTT (p.Ala161=)
16g.89919741G>ACA8255613MC1Rc.483G>A (p.Ala161=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89919741G>CCA497380334MC1Rc.483G>C (p.Ala161=)
16g.89919741G=CA2242009579MC1Rc.483G= (p.Ala161=)
16g.89919741G>TCA497380336MC1Rc.483G>T (p.Ala161=)
gnomAD v4
16g.89919746_89919758delCA624455294MC1Rc.488_500del (p.Arg163ProfsTer?)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.89919742C>ACA497380338MC1Rc.484C>A (p.Arg162=)
16g.89919742C=CA2242009580MC1Rc.484C= (p.Arg162=)
16g.89919742C>GCA8255614MC1Rc.484C>G (p.Arg162Gly)
dbSNP ExAC
16g.89919742C>TCA8255615MC1Rc.484C>T (p.Arg162Trp)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89919743G>ACA8255616MC1Rc.485G>A (p.Arg162Gln)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89919743G>CCA397461510MC1Rc.485G>C (p.Arg162Pro)
16g.89919743G=CA2242009581MC1Rc.485G= (p.Arg162=)
16g.89919743G>TCA397461514MC1Rc.485G>T (p.Arg162Leu)
gnomAD v4
16g.89919745_89919765delCA2635066374MC1Rc.487_507del (p.Arg163_Trp169del)
gnomAD v4
16g.89919744G>ACA497380345MC1Rc.486G>A (p.Arg162=)
dbSNP gnomAD v3 gnomAD v4
16g.89919744G>CCA497380348MC1Rc.486G>C (p.Arg162=)
16g.89919744G=CA2242009582MC1Rc.486G= (p.Arg162=)
16g.89919744G>TCA497380347MC1Rc.486G>T (p.Arg162=)
gnomAD v4
16g.89919745C>ACA497380350MC1Rc.487C>A (p.Arg163=)
gnomAD v4
16g.89919745C=CA2242009583MC1Rc.487C= (p.Arg163=)
16g.89919745C>GCA8255617MC1Rc.487C>G (p.Arg163Gly)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.89919745C>TCA8255618MC1Rc.487C>T (p.Arg163Ter)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.89919745_89919756delinsCGAGCCGTTGCGCA2242009584MC1Rc.487_498delinsCGAGCCGTTGCG (p.Arg163=)
16g.89919746G>ACA8255619MC1Rc.488G>A (p.Arg163Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89919746G>CCA397461518MC1Rc.488G>C (p.Arg163Pro)
dbSNP
16g.89919746G=CA2242009586MC1Rc.488G= (p.Arg163=)
16g.89919746G>TCA397461521MC1Rc.488G>T (p.Arg163Leu)
gnomAD v4
16g.89919747_89919757delCA2242009585MC1Rc.489_499del (p.Ala164HisfsTer?)
dbSNP gnomAD v4
16g.89919747A>CCA497380361MC1Rc.489A>C (p.Arg163=)
16g.89919747A>GCA497380362MC1Rc.489A>G (p.Arg163=)
16g.89919747A>TCA497380364MC1Rc.489A>T (p.Arg163=)
16g.89919748G>ACA8255620MC1Rc.490G>A (p.Ala164Thr)
dbSNP ExAC gnomAD v2
16g.89919748G>CCA397461527MC1Rc.490G>C (p.Ala164Pro)
16g.89919748G=CA2242009587MC1Rc.490G= (p.Ala164=)
16g.89919748G>TCA397461524MC1Rc.490G>T (p.Ala164Ser)
gnomAD v4
16g.89919749C>ACA397461529MC1Rc.491C>A (p.Ala164Asp)
gnomAD v4
16g.89919749C>GCA397461531MC1Rc.491C>G (p.Ala164Gly)
ClinVar
16g.89919749C>TCA397461532MC1Rc.491C>T (p.Ala164Val)
gnomAD v4
16g.89919750C>ACA497380378MC1Rc.492C>A (p.Ala164=)
gnomAD v4
16g.89919750C=CA2242009588MC1Rc.492C= (p.Ala164=)
16g.89919750C>GCA497380382MC1Rc.492C>G (p.Ala164=)
gnomAD v4
16g.89919750C>TCA8255621MC1Rc.492C>T (p.Ala164=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89919751G>ACA8255622MC1Rc.493G>A (p.Val165Ile)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89919751G>CCA397461538MC1Rc.493G>C (p.Val165Leu)
dbSNP
16g.89919751G=CA2242009589MC1Rc.493G= (p.Val165=)
16g.89919751G>TCA397461539MC1Rc.493G>T (p.Val165Phe)
gnomAD v4
16g.89919752T>ACA397461542MC1Rc.494T>A (p.Val165Asp)
16g.89919752T>CCA8255623MC1Rc.494T>C (p.Val165Ala)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.89919752T>GCA397461547MC1Rc.494T>G (p.Val165Gly)

Number of alleles fetched