Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.89919594_89919601dupCA286607458MC1Rc.336_343dup (p.Gln115ArgfsTer11)
dbSNP gnomAD v4
16g.89919595C>ACA397460354MC1Rc.337C>A (p.Leu113Met)
dbSNP gnomAD v2
16g.89919595C=CA2242009471MC1Rc.337C= (p.Leu113=)
16g.89919595C>GCA397460356MC1Rc.337C>G (p.Leu113Val)
16g.89919595C>TCA497380291MC1Rc.337C>T (p.Leu113=)
ClinVar dbSNP gnomAD v4
16g.89919596T>ACA397460365MC1Rc.338T>A (p.Leu113Gln)
16g.89919596T>CCA397460368MC1Rc.338T>C (p.Leu113Pro)
16g.89919596T>GCA397460363MC1Rc.338T>G (p.Leu113Arg)
16g.89919597G>ACA497380295MC1Rc.339G>A (p.Leu113=)
dbSNP gnomAD v2 gnomAD v4
16g.89919597G>CCA497380294MC1Rc.339G>C (p.Leu113=)
16g.89919597G=CA2242009472MC1Rc.339G= (p.Leu113=)
16g.89919597G>TCA497380293MC1Rc.339G>T (p.Leu113=)
gnomAD v4
16g.89919598C>ACA397460370MC1Rc.340C>A (p.Gln114Lys)
16g.89919598C=CA2242009473MC1Rc.340C= (p.Gln114=)
16g.89919598C>GCA397460371MC1Rc.340C>G (p.Gln114Glu)
16g.89919598C>TCA397460373MC1Rc.340C>T (p.Gln114Ter)
dbSNP gnomAD v3 gnomAD v4
16g.89919599A>CCA397460374MC1Rc.341A>C (p.Gln114Pro)
16g.89919599A>GCA397460376MC1Rc.341A>G (p.Gln114Arg)
16g.89919599A>TCA397460379MC1Rc.341A>T (p.Gln114Leu)
16g.89919600G>ACA497380302MC1Rc.342G>A (p.Gln114=)
dbSNP gnomAD v2 gnomAD v4
16g.89919600G>CCA397460381MC1Rc.342G>C (p.Gln114His)
gnomAD v4
16g.89919600G=CA2242009474MC1Rc.342G= (p.Gln114=)
16g.89919600G>TCA397460382MC1Rc.342G>T (p.Gln114His)
16g.89919601C>ACA397460383MC1Rc.343C>A (p.Gln115Lys)
16g.89919601C=CA2242009475MC1Rc.343C= (p.Gln115=)
16g.89919601C>GCA397460385MC1Rc.343C>G (p.Gln115Glu)
16g.89919601C>TCA286607459MC1Rc.343C>T (p.Gln115Ter)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.89919602A>CCA397460387MC1Rc.344A>C (p.Gln115Pro)
16g.89919602A>GCA397460388MC1Rc.344A>G (p.Gln115Arg)
16g.89919602A>TCA397460386MC1Rc.344A>T (p.Gln115Leu)
16g.89919603G>ACA497380307MC1Rc.345G>A (p.Gln115=)
gnomAD v4
16g.89919603G>CCA397460389MC1Rc.345G>C (p.Gln115His)
16g.89919603G>TCA397460390MC1Rc.345G>T (p.Gln115His)
gnomAD v4
16g.89919604C>ACA397460391MC1Rc.346C>A (p.Leu116Met)
16g.89919604C>GCA397460392MC1Rc.346C>G (p.Leu116Val)
dbSNP gnomAD v4
16g.89919604C>TCA497380311MC1Rc.346C>T (p.Leu116=)
16g.89919605T>ACA397460395MC1Rc.347T>A (p.Leu116Gln)
16g.89919605T>CCA397460394MC1Rc.347T>C (p.Leu116Pro)
16g.89919605T>GCA397460393MC1Rc.347T>G (p.Leu116Arg)
16g.89919606G>ACA8255565MC1Rc.348G>A (p.Leu116=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89919606G>CCA497380315MC1Rc.348G>C (p.Leu116=)
16g.89919606G=CA2242009476MC1Rc.348G= (p.Leu116=)
16g.89919606G>TCA497380316MC1Rc.348G>T (p.Leu116=)
16g.89919607G>ACA397460397MC1Rc.349G>A (p.Asp117Asn)
16g.89919607G>CCA286607461MC1Rc.349G>C (p.Asp117His)
dbSNP
16g.89919607G=CA2242009477MC1Rc.349G= (p.Asp117=)
16g.89919607G>TCA397460398MC1Rc.349G>T (p.Asp117Tyr)
gnomAD v4
16g.89919608_89919613dupCA2635065854MC1Rc.350_355dup (p.Asn118_Val119insAspAsn)
gnomAD v4
16g.89919608A=CA2242009478MC1Rc.350A= (p.Asp117=)
16g.89919608A>CCA397460401MC1Rc.350A>C (p.Asp117Ala)

Number of alleles fetched