Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.89919323_89919344delinsCCCAGCTGGGGCTGGCTGCCAACA2242009296MC1Rc.65_86delinsCCCAGCTGGGGCTGGCTGCCAA (p.Pro22=)
16g.89919328_89919348delCA624455298MC1Rc.70_90del (p.Leu24_Gln30del)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.89919336G>ACA497380619MC1Rc.78G>A (p.Leu26=)
16g.89919336G>CCA497380621MC1Rc.78G>C (p.Leu26=)
16g.89919336G>TCA497380623MC1Rc.78G>T (p.Leu26=)
16g.89919337G>ACA397459203MC1Rc.79G>A (p.Ala27Thr)
16g.89919337G>CCA397459205MC1Rc.79G>C (p.Ala27Pro)
16g.89919337G>TCA397459207MC1Rc.79G>T (p.Ala27Ser)
16g.89919338C>ACA8255478MC1Rc.80C>A (p.Ala27Asp)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.89919338C=CA2242009305MC1Rc.80C= (p.Ala27=)
16g.89919338C>GCA397459211MC1Rc.80C>G (p.Ala27Gly)
16g.89919338C>TCA397459213MC1Rc.80C>T (p.Ala27Val)
gnomAD v4
16g.89919339T>ACA497380638MC1Rc.81T>A (p.Ala27=)
16g.89919339T>CCA497380639MC1Rc.81T>C (p.Ala27=)
16g.89919339T>GCA497380640MC1Rc.81T>G (p.Ala27=)
16g.89919340G>ACA8255479MC1Rc.82G>A (p.Ala28Thr)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.89919340G>CCA397459215MC1Rc.82G>C (p.Ala28Pro)
gnomAD v4
16g.89919340G=CA2242009306MC1Rc.82G= (p.Ala28=)
16g.89919340G>TCA397459217MC1Rc.82G>T (p.Ala28Ser)
16g.89919341C>ACA397459221MC1Rc.83C>A (p.Ala28Asp)
16g.89919341C>GCA397459224MC1Rc.83C>G (p.Ala28Gly)
16g.89919341C>TCA397459223MC1Rc.83C>T (p.Ala28Val)
16g.89919341_89919342insACA286607354MC1Rc.83_84insA (p.Asn29GlnfsTer14)
16g.89919342C>ACA497380645MC1Rc.84C>A (p.Ala28=)
16g.89919342C=CA2242009307MC1Rc.84C= (p.Ala28=)
16g.89919342C>GCA497380646MC1Rc.84C>G (p.Ala28=)
16g.89919342C>TCA497380647MC1Rc.84C>T (p.Ala28=)
gnomAD v4
16g.89919343A=CA2242009308MC1Rc.85A= (p.Asn29=)
16g.89919343A>CCA397459228MC1Rc.85A>C (p.Asn29His)
16g.89919343A>GCA286607357MC1Rc.85A>G (p.Asn29Asp)
dbSNP
16g.89919343A>TCA397459230MC1Rc.85A>T (p.Asn29Tyr)
16g.89919344dupCA8255480MC1Rc.86dup (p.Asn29LysfsTer14)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89919344delCA2732931170MC1Rc.86del (p.Asn29ThrfsTer23)
dbSNP
16g.89919344A=CA2242009309MC1Rc.86A= (p.Asn29=)
16g.89919344A>CCA397459233MC1Rc.86A>C (p.Asn29Thr)
16g.89919344A>GCA397459235MC1Rc.86A>G (p.Asn29Ser)
ClinVar dbSNP gnomAD v4
16g.89919344A>TCA397459238MC1Rc.86A>T (p.Asn29Ile)
16g.89919345C>ACA397459241MC1Rc.87C>A (p.Asn29Lys)
gnomAD v4
16g.89919345C=CA2242009310MC1Rc.87C= (p.Asn29=)
16g.89919345C>GCA286607359MC1Rc.87C>G (p.Asn29Lys)
dbSNP gnomAD v2 gnomAD v4
16g.89919345C>TCA497380655MC1Rc.87C>T (p.Asn29=)
16g.89919346C>ACA397459245MC1Rc.88C>A (p.Gln30Lys)
gnomAD v4
16g.89919346C=CA2242009311MC1Rc.88C= (p.Gln30=)
16g.89919346C>GCA397459247MC1Rc.88C>G (p.Gln30Glu)
16g.89919346C>TCA8255481MC1Rc.88C>T (p.Gln30Ter)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.89919347A>CCA397459249MC1Rc.89A>C (p.Gln30Pro)
16g.89919347A>GCA397459251MC1Rc.89A>G (p.Gln30Arg)
gnomAD v4
16g.89919347A>TCA397459254MC1Rc.89A>T (p.Gln30Leu)
16g.89919348G>ACA497380657MC1Rc.90G>A (p.Gln30=)
16g.89919348G>CCA397459257MC1Rc.90G>C (p.Gln30His)
dbSNP gnomAD v3 gnomAD v4

Number of alleles fetched