Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.169552604C>ACA343128062F5c.1249G>T (p.Gly417Trp)
c.838G>T (p.Gly280Trp)
1g.169552604C>GCA343128067F5c.1249G>C (p.Gly417Arg)
c.838G>C (p.Gly280Arg)
1g.169552604C>TCA343128069F5c.1249G>A (p.Gly417Arg)
c.838G>A (p.Gly280Arg)
1g.169552605A>CCA343128071F5c.1248T>G (p.Asp416Glu)
c.837T>G (p.Asp279Glu)
1g.169552605A>GCA421732520F5c.1248T>C (p.Asp416=)
c.837T>C (p.Asp279=)
1g.169552605A>TCA343128073F5c.1248T>A (p.Asp416Glu)
c.837T>A (p.Asp279Glu)
1g.169552606T>ACA343128075F5c.1247A>T (p.Asp416Val)
c.836A>T (p.Asp279Val)
1g.169552606T>CCA343128078F5c.1247A>G (p.Asp416Gly)
c.836A>G (p.Asp279Gly)
1g.169552606T>GCA343128090F5c.1247A>C (p.Asp416Ala)
c.836A>C (p.Asp279Ala)
1g.169552610_169552612delCA2649036050F5c.1245_1247del (p.Glu415del)
c.834_836del (p.Glu278del)
 gnomAD v4
1g.169552607C>ACA343128100F5c.1246G>T (p.Asp416Tyr)
c.835G>T (p.Asp279Tyr)
1g.169552607C>GCA343128104F5c.1246G>C (p.Asp416His)
c.835G>C (p.Asp279His)
1g.169552607C>TCA343128107F5c.1246G>A (p.Asp416Asn)
c.835G>A (p.Asp279Asn)
1g.169552607_169552608delinsCTCA1206146820F5c.1245_1246delinsAG (p.Glu415=)
c.834_835delinsAG (p.Glu278=)
1g.169552608T>ACA343128111F5c.1245A>T (p.Glu415Asp)
c.834A>T (p.Glu278Asp)
1g.169552608T>CCA421732521F5c.1245A>G (p.Glu415=)
c.834A>G (p.Glu278=)
1g.169552608T>GCA343128112F5c.1245A>C (p.Glu415Asp)
c.834A>C (p.Glu278Asp)
 gnomAD v4
1g.169552609delCA527131283F5c.1245del (p.Asp416MetfsTer?)
c.834del (p.Asp279MetfsTer?)
 dbSNP gnomAD v2 gnomAD v4
1g.169552609T>ACA343128115F5c.1244A>T (p.Glu415Val)
c.833A>T (p.Glu278Val)
1g.169552609T>CCA343128116F5c.1244A>G (p.Glu415Gly)
c.833A>G (p.Glu278Gly)
1g.169552609T>GCA343128118F5c.1244A>C (p.Glu415Ala)
c.833A>C (p.Glu278Ala)
1g.169552610C>ACA343128138F5c.1243G>T (p.Glu415Ter)
c.832G>T (p.Glu278Ter)
1g.169552610C>GCA343128135F5c.1243G>C (p.Glu415Gln)
c.832G>C (p.Glu278Gln)
1g.169552610C>TCA343128123F5c.1243G>A (p.Glu415Lys)
c.832G>A (p.Glu278Lys)
1g.169552611T>ACA343128140F5c.1242A>T (p.Lys414Asn)
c.831A>T (p.Lys277Asn)
1g.169552611T>CCA1234385F5c.1242A>G (p.Lys414=)
c.831A>G (p.Lys277=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.169552611T>GCA343128155F5c.1242A>C (p.Lys414Asn)
c.831A>C (p.Lys277Asn)
 gnomAD v4
1g.169552611T=CA1139773089F5c.1242A= (p.Lys414=)
c.831A= (p.Lys277=)
1g.169552612T>ACA343128163F5c.1241A>T (p.Lys414Ile)
c.830A>T (p.Lys277Ile)
1g.169552612T>CCA343128167F5c.1241A>G (p.Lys414Arg)
c.830A>G (p.Lys277Arg)
1g.169552612T>GCA343128169F5c.1241A>C (p.Lys414Thr)
c.830A>C (p.Lys277Thr)
1g.169552613T>ACA343128172F5c.1240A>T (p.Lys414Ter)
c.829A>T (p.Lys277Ter)
1g.169552613T>CCA343128176F5c.1240A>G (p.Lys414Glu)
c.829A>G (p.Lys277Glu)
1g.169552613T>GCA343128182F5c.1240A>C (p.Lys414Gln)
c.829A>C (p.Lys277Gln)
1g.169552614C>ACA343128185F5c.1239G>T (p.Met413Ile)
c.828G>T (p.Met276Ile)
1g.169552614C>GCA343128186F5c.1239G>C (p.Met413Ile)
c.828G>C (p.Met276Ile)
1g.169552614C>TCA343128188F5c.1239G>A (p.Met413Ile)
c.828G>A (p.Met276Ile)
1g.169552615A=CA1139773087F5c.1238T= (p.Met413=)
c.827T= (p.Met276=)
1g.169552615A>CCA343128202F5c.1238T>G (p.Met413Arg)
c.827T>G (p.Met276Arg)
1g.169552615A>GCA1234386F5c.1238T>C (p.Met413Thr)
c.827T>C (p.Met276Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.169552615A>TCA343128198F5c.1238T>A (p.Met413Lys)
c.827T>A (p.Met276Lys)
 dbSNP
1g.169552616T>ACA343128220F5c.1237A>T (p.Met413Leu)
c.826A>T (p.Met276Leu)
1g.169552616T>CCA343128228F5c.1237A>G (p.Met413Val)
c.826A>G (p.Met276Val)
 COSMIC
1g.169552616T>GCA343128231F5c.1237A>C (p.Met413Leu)
c.826A>C (p.Met276Leu)
1g.169552616dupCA1234387F5c.1237dup (p.Met413AsnfsTer?)
c.826dup (p.Met276AsnfsTer?)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.169552617A>CCA343128235F5c.1236T>G (p.Asn412Lys)
c.825T>G (p.Asn275Lys)
1g.169552617A>GCA421732525F5c.1236T>C (p.Asn412=)
c.825T>C (p.Asn275=)
1g.169552617A>TCA343128238F5c.1236T>A (p.Asn412Lys)
c.825T>A (p.Asn275Lys)
1g.169552618T>ACA343128243F5c.1235A>T (p.Asn412Ile)
c.824A>T (p.Asn275Ile)
1g.169552618T>CCA343128254F5c.1235A>G (p.Asn412Ser)
c.824A>G (p.Asn275Ser)
 COSMIC

Number of alleles fetched