Chr Mutation (hg38) CAid Gene Transcript Linkouts
8g.19955963_19958022dupCA2580078054LPLc.898_1019-1238dup
ClinVar
8g.19955963_19958026dupCA2695199656LPLc.898_1019-1234dup
8g.19956018delCA2695208974LPLc.953del (p.Asn318IlefsTer13)
c.14del (p.Asn5IlefsTer13)
8g.19956018A=CA1630835097LPLc.953A= (p.Asn318=)
c.14A= (p.Asn5=)
8g.19956018A>CCA370469321LPLc.953A>C (p.Asn318Thr)
c.14A>C (p.Asn5Thr)
8g.19956018A>GCA251887LPLc.953A>G (p.Asn318Ser)
c.14A>G (p.Asn5Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.19956018A>TCA370469322LPLc.953A>T (p.Asn318Ile)
c.14A>T (p.Asn5Ile)
8g.19956019T>ACA370469323LPLc.954T>A (p.Asn318Lys)
c.15T>A (p.Asn5Lys)
8g.19956019T>CCA459879705LPLc.954T>C (p.Asn318=)
c.15T>C (p.Asn5=)
dbSNP
8g.19956019T>GCA370469324LPLc.954T>G (p.Asn318Lys)
c.15T>G (p.Asn5Lys)
8g.19956019T=CA1769104740LPLc.954T= (p.Asn318=)
c.15T= (p.Asn5=)
8g.19956020A>CCA370469327LPLc.955A>C (p.Lys319Gln)
c.16A>C (p.Lys6Gln)
8g.19956020A>GCA370469325LPLc.955A>G (p.Lys319Glu)
c.16A>G (p.Lys6Glu)
8g.19956020A>TCA370469326LPLc.955A>T (p.Lys319Ter)
c.16A>T (p.Lys6Ter)
8g.19956021A>CCA370469328LPLc.956A>C (p.Lys319Thr)
c.17A>C (p.Lys6Thr)
gnomAD v4
8g.19956021A>GCA370469329LPLc.956A>G (p.Lys319Arg)
c.17A>G (p.Lys6Arg)
8g.19956021A>TCA370469330LPLc.956A>T (p.Lys319Ile)
c.17A>T (p.Lys6Ile)
8g.19956022A>CCA370469331LPLc.957A>C (p.Lys319Asn)
c.18A>C (p.Lys6Asn)
8g.19956022A>GCA459879706LPLc.957A>G (p.Lys319=)
c.18A>G (p.Lys6=)
8g.19956022A>TCA370469332LPLc.957A>T (p.Lys319Asn)
c.18A>T (p.Lys6Asn)
8g.19956023G>ACA370469333LPLc.958G>A (p.Val320Ile)
c.19G>A (p.Val7Ile)
8g.19956023G>CCA370469334LPLc.958G>C (p.Val320Leu)
c.19G>C (p.Val7Leu)
8g.19956023G=CA1769104744LPLc.958G= (p.Val320=)
c.19G= (p.Val7=)
8g.19956023G>TCA4655562LPLc.958G>T (p.Val320Phe)
c.19G>T (p.Val7Phe)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.19956024T>ACA370469335LPLc.959T>A (p.Val320Asp)
c.20T>A (p.Val7Asp)
8g.19956024T>CCA370469336LPLc.959T>C (p.Val320Ala)
c.20T>C (p.Val7Ala)
8g.19956024T>GCA370469337LPLc.959T>G (p.Val320Gly)
c.20T>G (p.Val7Gly)
8g.19956025C>ACA459879707LPLc.960C>A (p.Val320=)
c.21C>A (p.Val7=)
gnomAD v4
8g.19956025C=CA1769104747LPLc.960C= (p.Val320=)
c.21C= (p.Val7=)
8g.19956025C>GCA459879708LPLc.960C>G (p.Val320=)
c.21C>G (p.Val7=)
8g.19956025C>TCA459879709LPLc.960C>T (p.Val320=)
c.21C>T (p.Val7=)
dbSNP gnomAD v2 COSMIC
8g.19956026A>CCA459879710LPLc.961A>C (p.Arg321=)
c.22A>C (p.Arg8=)
8g.19956026A>GCA370469338LPLc.961A>G (p.Arg321Gly)
c.22A>G (p.Arg8Gly)
8g.19956026A>TCA370469339LPLc.961A>T (p.Arg321Ter)
c.22A>T (p.Arg8Ter)
8g.19956027G>ACA370469340LPLc.962G>A (p.Arg321Lys)
c.23G>A (p.Arg8Lys)
8g.19956027G>CCA370469342LPLc.962G>C (p.Arg321Thr)
c.23G>C (p.Arg8Thr)
8g.19956027G>TCA370469341LPLc.962G>T (p.Arg321Ile)
c.23G>T (p.Arg8Ile)
8g.19956027_19956028delinsGACA1769104750LPLc.962_963delinsGA (p.Arg321=)
c.23_24delinsGA (p.Arg8=)
8g.19956028delCA4655563LPLc.963del (p.Ala322ProfsTer9)
c.24del (p.Ala9ProfsTer9)
dbSNP ExAC gnomAD v2
8g.19956028A=CA1769104754LPLc.963A= (p.Arg321=)
c.24A= (p.Arg8=)
8g.19956028A>CCA173378337LPLc.963A>C (p.Arg321Ser)
c.24A>C (p.Arg8Ser)
dbSNP gnomAD v4
8g.19956028A>GCA459879711LPLc.963A>G (p.Arg321=)
c.24A>G (p.Arg8=)
8g.19956028A>TCA370469343LPLc.963A>T (p.Arg321Ser)
c.24A>T (p.Arg8Ser)
8g.19956029G>ACA370469344LPLc.964G>A (p.Ala322Thr)
c.25G>A (p.Ala9Thr)
8g.19956029G>CCA370469345LPLc.964G>C (p.Ala322Pro)
c.25G>C (p.Ala9Pro)
8g.19956029G>TCA370469346LPLc.964G>T (p.Ala322Ser)
c.25G>T (p.Ala9Ser)
8g.19956030C>ACA370469347LPLc.965C>A (p.Ala322Asp)
c.26C>A (p.Ala9Asp)
8g.19956030C>GCA370469348LPLc.965C>G (p.Ala322Gly)
c.26C>G (p.Ala9Gly)
8g.19956030C>TCA370469349LPLc.965C>T (p.Ala322Val)
c.26C>T (p.Ala9Val)
8g.19956031C>ACA4655564LPLc.966C>A (p.Ala322=)
c.27C>A (p.Ala9=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4

Number of alleles fetched