Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.89919419_89919421delCA8255504MC1Rc.161_163del (p.Val54del)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89919420G>ACA497380895MC1Rc.162G>A (p.Val54=)
16g.89919420G>CCA497380897MC1Rc.162G>C (p.Val54=)
16g.89919420G>TCA497380900MC1Rc.162G>T (p.Val54=)
16g.89919421G>ACA397459640MC1Rc.163G>A (p.Glu55Lys)
16g.89919421G>CCA397459642MC1Rc.163G>C (p.Glu55Gln)
16g.89919421G>TCA397459644MC1Rc.163G>T (p.Glu55Ter)
16g.89919422A=CA2242009363MC1Rc.164A= (p.Glu55=)
16g.89919422A>CCA8255508MC1Rc.164A>C (p.Glu55Ala)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89919422A>GCA397459647MC1Rc.164A>G (p.Glu55Gly)
gnomAD v3 gnomAD v4
16g.89919422A>TCA397459649MC1Rc.164A>T (p.Glu55Val)
16g.89919423G>ACA497380907MC1Rc.165G>A (p.Glu55=)
16g.89919423G>CCA397459653MC1Rc.165G>C (p.Glu55Asp)
16g.89919423G>TCA397459655MC1Rc.165G>T (p.Glu55Asp)
16g.89919424A=CA2242009364MC1Rc.166A= (p.Asn56=)
16g.89919424A>CCA397459656MC1Rc.166A>C (p.Asn56His)
16g.89919424A>GCA397459658MC1Rc.166A>G (p.Asn56Asp)
16g.89919424A>TCA8255509MC1Rc.166A>T (p.Asn56Tyr)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89919425A>CCA397459667MC1Rc.167A>C (p.Asn56Thr)
16g.89919425A>GCA397459662MC1Rc.167A>G (p.Asn56Ser)
16g.89919425A>TCA397459665MC1Rc.167A>T (p.Asn56Ile)
16g.89919426C>ACA397459669MC1Rc.168C>A (p.Asn56Lys)
16g.89919426C=CA2242009365MC1Rc.168C= (p.Asn56=)
16g.89919426C>GCA397459670MC1Rc.168C>G (p.Asn56Lys)
16g.89919426C>TCA8255510MC1Rc.168C>T (p.Asn56=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.89919427G>ACA8255512MC1Rc.169G>A (p.Ala57Thr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89919427G>CCA397459675MC1Rc.169G>C (p.Ala57Pro)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.89919427G=CA2242009366MC1Rc.169G= (p.Ala57=)
16g.89919427G>TCA397459678MC1Rc.169G>T (p.Ala57Ser)
16g.89919427dupCA8255511MC1Rc.169dup (p.Ala57GlyfsTer?)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89919428C>ACA397459681MC1Rc.170C>A (p.Ala57Glu)
dbSNP gnomAD v3 gnomAD v4
16g.89919428C=CA2242009367MC1Rc.170C= (p.Ala57=)
16g.89919428C>GCA397459684MC1Rc.170C>G (p.Ala57Gly)
16g.89919428C>TCA8255513MC1Rc.170C>T (p.Ala57Val)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89919429G>ACA8255514MC1Rc.171G>A (p.Ala57=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89919429G>CCA497380910MC1Rc.171G>C (p.Ala57=)
16g.89919429G=CA2242009368MC1Rc.171G= (p.Ala57=)
16g.89919429G>TCA497380911MC1Rc.171G>T (p.Ala57=)
dbSNP gnomAD v4
16g.89919430C>ACA397459691MC1Rc.172C>A (p.Leu58Met)
16g.89919430C>GCA397459694MC1Rc.172C>G (p.Leu58Val)
16g.89919430C>TCA497380912MC1Rc.172C>T (p.Leu58=)
16g.89919431T>ACA397459702MC1Rc.173T>A (p.Leu58Gln)
16g.89919431T>CCA397459698MC1Rc.173T>C (p.Leu58Pro)
gnomAD v4
16g.89919431T>GCA397459700MC1Rc.173T>G (p.Leu58Arg)
16g.89919432G>ACA497380913MC1Rc.174G>A (p.Leu58=)
16g.89919432G>CCA497380914MC1Rc.174G>C (p.Leu58=)
16g.89919432G>TCA497380915MC1Rc.174G>T (p.Leu58=)
16g.89919433G>ACA397459704MC1Rc.175G>A (p.Val59Met)
dbSNP gnomAD v2 gnomAD v4
16g.89919433G>CCA397459720MC1Rc.175G>C (p.Val59Leu)
16g.89919433G=CA2242009369MC1Rc.175G= (p.Val59=)

Number of alleles fetched