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 | ClinVar |
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 |
8 | g.19956031C= | CA1769104759 | LPL | c.966C= (p.Ala322=) c.27C= (p.Ala9=) | |
8 | g.19956031C>G | CA459879712 | LPL | c.966C>G (p.Ala322=) c.27C>G (p.Ala9=) | |
8 | g.19956031C>T | CA459879713 | LPL | c.966C>T (p.Ala322=) c.27C>T (p.Ala9=) | |
8 | g.19956032A>C | CA370469350 | LPL | c.967A>C (p.Lys323Gln) c.28A>C (p.Lys10Gln) | |
8 | g.19956032A>G | CA370469351 | LPL | c.967A>G (p.Lys323Glu) c.28A>G (p.Lys10Glu) | |
8 | g.19956032A>T | CA370469352 | LPL | c.967A>T (p.Lys323Ter) c.28A>T (p.Lys10Ter) | |
8 | g.19956033A>C | CA370469355 | LPL | c.968A>C (p.Lys323Thr) c.29A>C (p.Lys10Thr) | |
8 | g.19956033A>G | CA370469353 | LPL | c.968A>G (p.Lys323Arg) c.29A>G (p.Lys10Arg) | |
8 | g.19956033A>T | CA370469354 | LPL | c.968A>T (p.Lys323Ile) c.29A>T (p.Lys10Ile) | |
8 | g.19956034A>C | CA370469356 | LPL | c.969A>C (p.Lys323Asn) c.30A>C (p.Lys10Asn) | |
8 | g.19956034A>G | CA459879714 | LPL | c.969A>G (p.Lys323=) c.30A>G (p.Lys10=) | |
8 | g.19956034A>T | CA370469357 | LPL | c.969A>T (p.Lys323Asn) c.30A>T (p.Lys10Asn) | |
8 | g.19956035A>C | CA459879715 | LPL | c.970A>C (p.Arg324=) c.31A>C (p.Arg11=) | |
8 | g.19956035A>G | CA370469358 | LPL | c.970A>G (p.Arg324Gly) c.31A>G (p.Arg11Gly) | gnomAD v4 |
8 | g.19956035A>T | CA370469359 | LPL | c.970A>T (p.Arg324Ter) c.31A>T (p.Arg11Ter) | |
8 | g.19956036G>A | CA370469360 | LPL | c.971G>A (p.Arg324Lys) c.32G>A (p.Arg11Lys) | |
8 | g.19956036G>C | CA370469361 | LPL | c.971G>C (p.Arg324Thr) c.32G>C (p.Arg11Thr) | dbSNP |
8 | g.19956036G= | CA1769104762 | LPL | c.971G= (p.Arg324=) c.32G= (p.Arg11=) | |
8 | g.19956036G>T | CA370469362 | LPL | c.971G>T (p.Arg324Ile) c.32G>T (p.Arg11Ile) | |
8 | g.19956037A= | CA1769104765 | LPL | c.972A= (p.Arg324=) c.33A= (p.Arg11=) | |
8 | g.19956037A>C | CA370469363 | LPL | c.972A>C (p.Arg324Ser) c.33A>C (p.Arg11Ser) | dbSNP gnomAD v4 |
8 | g.19956037A>G | CA459879716 | LPL | c.972A>G (p.Arg324=) c.33A>G (p.Arg11=) | |
8 | g.19956037A>T | CA370469364 | LPL | c.972A>T (p.Arg324Ser) c.33A>T (p.Arg11Ser) | |
8 | g.19956038A= | CA1769104769 | LPL | c.973A= (p.Ser325=) c.34A= (p.Ser12=) | |
8 | g.19956038A>C | CA370469365 | LPL | c.973A>C (p.Ser325Arg) c.34A>C (p.Ser12Arg) | |
8 | g.19956038A>G | CA370469366 | LPL | c.973A>G (p.Ser325Gly) c.34A>G (p.Ser12Gly) | dbSNP gnomAD v4 |
8 | g.19956038A>T | CA370469367 | LPL | c.973A>T (p.Ser325Cys) c.34A>T (p.Ser12Cys) | |
8 | g.19956039G>A | CA370469369 | LPL | c.974G>A (p.Ser325Asn) c.35G>A (p.Ser12Asn) | |
8 | g.19956039G>C | CA370469370 | LPL | c.974G>C (p.Ser325Thr) c.35G>C (p.Ser12Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.19956039G= | CA1769104773 | LPL | c.974G= (p.Ser325=) c.35G= (p.Ser12=) | |
8 | g.19956039G>T | CA370469368 | LPL | c.974G>T (p.Ser325Ile) c.35G>T (p.Ser12Ile) | |
8 | g.19956040C>A | CA370469371 | LPL | c.975C>A (p.Ser325Arg) c.36C>A (p.Ser12Arg) |