Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.89919505T>ACA397460086MC1Rc.247T>A (p.Ser83Thr)
16g.89919505T>CCA8255535MC1Rc.247T>C (p.Ser83Pro)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89919505T>GCA397460088MC1Rc.247T>G (p.Ser83Ala)
16g.89919505T=CA2242009413MC1Rc.247T= (p.Ser83=)
16g.89919506C>ACA397460090MC1Rc.248C>A (p.Ser83Ter)
16g.89919506C=CA2242009414MC1Rc.248C= (p.Ser83=)
16g.89919506C>GCA397460092MC1Rc.248C>G (p.Ser83Trp)
dbSNP
16g.89919506C>TCA8255536MC1Rc.248C>T (p.Ser83Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89919507G>ACA8255537MC1Rc.249G>A (p.Ser83=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89919507G>CCA497380146MC1Rc.249G>C (p.Ser83=)
16g.89919507G=CA2242009415MC1Rc.249G= (p.Ser83=)
16g.89919507G>TCA497380147MC1Rc.249G>T (p.Ser83=)
16g.89919510_89919526delCA2635065510MC1Rc.252_268del (p.Asp84GlufsTer?)
gnomAD v4
16g.89919508G>ACA8255538MC1Rc.250G>A (p.Asp84Asn)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89919508G>CCA397460096MC1Rc.250G>C (p.Asp84His)
16g.89919508G=CA2242009416MC1Rc.250G= (p.Asp84=)
16g.89919508G>TCA397460098MC1Rc.250G>T (p.Asp84Tyr)
16g.89919509A=CA2242009417MC1Rc.251A= (p.Asp84=)
16g.89919509A>CCA397460099MC1Rc.251A>C (p.Asp84Ala)
dbSNP
16g.89919509A>GCA397460103MC1Rc.251A>G (p.Asp84Gly)
16g.89919509A>TCA397460101MC1Rc.251A>T (p.Asp84Val)
16g.89919510C>ACA123865MC1Rc.252C>A (p.Asp84Glu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89919510C=CA2242009418MC1Rc.252C= (p.Asp84=)
16g.89919510C>GCA8255539MC1Rc.252C>G (p.Asp84Glu)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.89919510C>TCA497380149MC1Rc.252C>T (p.Asp84=)
16g.89919511C>ACA397460104MC1Rc.253C>A (p.Leu85Met)
16g.89919511C=CA2242009419MC1Rc.253C= (p.Leu85=)
16g.89919511C>GCA397460105MC1Rc.253C>G (p.Leu85Val)
dbSNP
16g.89919511C>TCA497380150MC1Rc.253C>T (p.Leu85=)
dbSNP gnomAD v3 gnomAD v4
16g.89919512T>ACA397460108MC1Rc.254T>A (p.Leu85Gln)
16g.89919512T>CCA397460109MC1Rc.254T>C (p.Leu85Pro)
gnomAD v4
16g.89919512T>GCA397460111MC1Rc.254T>G (p.Leu85Arg)
16g.89919513G>ACA497380151MC1Rc.255G>A (p.Leu85=)
16g.89919513G>CCA497380152MC1Rc.255G>C (p.Leu85=)
ClinVar dbSNP gnomAD v3 gnomAD v4
16g.89919513G=CA2242009420MC1Rc.255G= (p.Leu85=)
16g.89919513G>TCA497380153MC1Rc.255G>T (p.Leu85=)
16g.89919514C>ACA397460112MC1Rc.256C>A (p.Leu86Met)
16g.89919514C>GCA397460114MC1Rc.256C>G (p.Leu86Val)
16g.89919514C>TCA497380154MC1Rc.256C>T (p.Leu86=)
16g.89919515T>ACA397460116MC1Rc.257T>A (p.Leu86Gln)
16g.89919515T>CCA397460118MC1Rc.257T>C (p.Leu86Pro)
16g.89919515T>GCA397460119MC1Rc.257T>G (p.Leu86Arg)
16g.89919517_89919519dupCA2635065542MC1Rc.259_261dup (p.Val87_Ser88insVal)
gnomAD v4
16g.89919516G>ACA497380156MC1Rc.258G>A (p.Leu86=)
gnomAD v4
16g.89919516G>CCA497380157MC1Rc.258G>C (p.Leu86=)
16g.89919516G>TCA497380158MC1Rc.258G>T (p.Leu86=)
gnomAD v4
16g.89919517G>ACA397460124MC1Rc.259G>A (p.Val87Met)
gnomAD v4
16g.89919517G>CCA397460121MC1Rc.259G>C (p.Val87Leu)
gnomAD v4
16g.89919517G>TCA397460123MC1Rc.259G>T (p.Val87Leu)
gnomAD v4
16g.89919518T>ACA397460126MC1Rc.260T>A (p.Val87Glu)

Number of alleles fetched