Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.19955963_19958022dup | CA2580078054 | LPL | c.898_1019-1238dup | ClinVar |
8 | g.19955963_19958026dup | CA2695199656 | LPL | c.898_1019-1234dup | |
8 | g.19956018del | CA2695208974 | LPL | c.953del (p.Asn318IlefsTer13) c.14del (p.Asn5IlefsTer13) | |
8 | g.19956018A= | CA1630835097 | LPL | c.953A= (p.Asn318=) c.14A= (p.Asn5=) | |
8 | g.19956018A>C | CA370469321 | LPL | c.953A>C (p.Asn318Thr) c.14A>C (p.Asn5Thr) | |
8 | g.19956018A>G | CA251887 | LPL | c.953A>G (p.Asn318Ser) c.14A>G (p.Asn5Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.19956018A>T | CA370469322 | LPL | c.953A>T (p.Asn318Ile) c.14A>T (p.Asn5Ile) | |
8 | g.19956019T>A | CA370469323 | LPL | c.954T>A (p.Asn318Lys) c.15T>A (p.Asn5Lys) | |
8 | g.19956019T>C | CA459879705 | LPL | c.954T>C (p.Asn318=) c.15T>C (p.Asn5=) | dbSNP |
8 | g.19956019T>G | CA370469324 | LPL | c.954T>G (p.Asn318Lys) c.15T>G (p.Asn5Lys) | |
8 | g.19956019T= | CA1769104740 | LPL | c.954T= (p.Asn318=) c.15T= (p.Asn5=) | |
8 | g.19956020A>C | CA370469327 | LPL | c.955A>C (p.Lys319Gln) c.16A>C (p.Lys6Gln) | |
8 | g.19956020A>G | CA370469325 | LPL | c.955A>G (p.Lys319Glu) c.16A>G (p.Lys6Glu) | |
8 | g.19956020A>T | CA370469326 | LPL | c.955A>T (p.Lys319Ter) c.16A>T (p.Lys6Ter) | |
8 | g.19956021A>C | CA370469328 | LPL | c.956A>C (p.Lys319Thr) c.17A>C (p.Lys6Thr) | gnomAD v4 |
8 | g.19956021A>G | CA370469329 | LPL | c.956A>G (p.Lys319Arg) c.17A>G (p.Lys6Arg) | |
8 | g.19956021A>T | CA370469330 | LPL | c.956A>T (p.Lys319Ile) c.17A>T (p.Lys6Ile) | |
8 | g.19956022A>C | CA370469331 | LPL | c.957A>C (p.Lys319Asn) c.18A>C (p.Lys6Asn) | |
8 | g.19956022A>G | CA459879706 | LPL | c.957A>G (p.Lys319=) c.18A>G (p.Lys6=) | |
8 | g.19956022A>T | CA370469332 | LPL | c.957A>T (p.Lys319Asn) c.18A>T (p.Lys6Asn) | |
8 | g.19956023G>A | CA370469333 | LPL | c.958G>A (p.Val320Ile) c.19G>A (p.Val7Ile) | |
8 | g.19956023G>C | CA370469334 | LPL | c.958G>C (p.Val320Leu) c.19G>C (p.Val7Leu) | |
8 | g.19956023G= | CA1769104744 | LPL | c.958G= (p.Val320=) c.19G= (p.Val7=) | |
8 | g.19956023G>T | CA4655562 | LPL | c.958G>T (p.Val320Phe) c.19G>T (p.Val7Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.19956024T>A | CA370469335 | LPL | c.959T>A (p.Val320Asp) c.20T>A (p.Val7Asp) | |
8 | g.19956024T>C | CA370469336 | LPL | c.959T>C (p.Val320Ala) c.20T>C (p.Val7Ala) | |
8 | g.19956024T>G | CA370469337 | LPL | c.959T>G (p.Val320Gly) c.20T>G (p.Val7Gly) | |
8 | g.19956025C>A | CA459879707 | LPL | c.960C>A (p.Val320=) c.21C>A (p.Val7=) | gnomAD v4 |
8 | g.19956025C= | CA1769104747 | LPL | c.960C= (p.Val320=) c.21C= (p.Val7=) | |
8 | g.19956025C>G | CA459879708 | LPL | c.960C>G (p.Val320=) c.21C>G (p.Val7=) | |
8 | g.19956025C>T | CA459879709 | LPL | c.960C>T (p.Val320=) c.21C>T (p.Val7=) | dbSNP gnomAD v2 COSMIC |
8 | g.19956026A>C | CA459879710 | LPL | c.961A>C (p.Arg321=) c.22A>C (p.Arg8=) | |
8 | g.19956026A>G | CA370469338 | LPL | c.961A>G (p.Arg321Gly) c.22A>G (p.Arg8Gly) | |
8 | g.19956026A>T | CA370469339 | LPL | c.961A>T (p.Arg321Ter) c.22A>T (p.Arg8Ter) | |
8 | g.19956027G>A | CA370469340 | LPL | c.962G>A (p.Arg321Lys) c.23G>A (p.Arg8Lys) | |
8 | g.19956027G>C | CA370469342 | LPL | c.962G>C (p.Arg321Thr) c.23G>C (p.Arg8Thr) | |
8 | g.19956027G>T | CA370469341 | LPL | c.962G>T (p.Arg321Ile) c.23G>T (p.Arg8Ile) | |
8 | g.19956027_19956028delinsGA | CA1769104750 | LPL | c.962_963delinsGA (p.Arg321=) c.23_24delinsGA (p.Arg8=) | |
8 | g.19956028del | CA4655563 | LPL | c.963del (p.Ala322ProfsTer9) c.24del (p.Ala9ProfsTer9) | dbSNP ExAC gnomAD v2 |
8 | g.19956028A= | CA1769104754 | LPL | c.963A= (p.Arg321=) c.24A= (p.Arg8=) | |
8 | g.19956028A>C | CA173378337 | LPL | c.963A>C (p.Arg321Ser) c.24A>C (p.Arg8Ser) | dbSNP gnomAD v4 |
8 | g.19956028A>G | CA459879711 | LPL | c.963A>G (p.Arg321=) c.24A>G (p.Arg8=) | |
8 | g.19956028A>T | CA370469343 | LPL | c.963A>T (p.Arg321Ser) c.24A>T (p.Arg8Ser) | |
8 | g.19956029G>A | CA370469344 | LPL | c.964G>A (p.Ala322Thr) c.25G>A (p.Ala9Thr) | |
8 | g.19956029G>C | CA370469345 | LPL | c.964G>C (p.Ala322Pro) c.25G>C (p.Ala9Pro) | |
8 | g.19956029G>T | CA370469346 | LPL | c.964G>T (p.Ala322Ser) c.25G>T (p.Ala9Ser) | |
8 | g.19956030C>A | CA370469347 | LPL | c.965C>A (p.Ala322Asp) c.26C>A (p.Ala9Asp) | |
8 | g.19956030C>G | CA370469348 | LPL | c.965C>G (p.Ala322Gly) c.26C>G (p.Ala9Gly) | |
8 | g.19956030C>T | CA370469349 | LPL | c.965C>T (p.Ala322Val) c.26C>T (p.Ala9Val) | |
8 | g.19956031C>A | CA4655564 | LPL | c.966C>A (p.Ala322=) c.27C>A (p.Ala9=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |