| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.19954120_19954122delinsGCC | CA1769101832 | LPL | c.542_544delinsGCC (p.Gly181=) c.314_316delinsGCC (p.Gly105=) | |
| 8 | g.19954121_19954122del | CA4655465 | LPL | c.543_544del (p.Leu182ArgfsTer6) c.315_316del (p.Leu106ArgfsTer6) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.19954122C>A | CA370468259 | LPL | c.544C>A (p.Leu182Ile) c.316C>A (p.Leu106Ile) | |
| 8 | g.19954122C= | CA1769101840 | LPL | c.544C= (p.Leu182=) c.316C= (p.Leu106=) | |
| 8 | g.19954122C>G | CA370468258 | LPL | c.544C>G (p.Leu182Val) c.316C>G (p.Leu106Val) | |
| 8 | g.19954122C>T | CA370468260 | LPL | c.544C>T (p.Leu182Phe) c.316C>T (p.Leu106Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.19954123T>A | CA370468261 | LPL | c.545T>A (p.Leu182His) c.317T>A (p.Leu106His) | |
| 8 | g.19954123T>C | CA370468262 | LPL | c.545T>C (p.Leu182Pro) c.317T>C (p.Leu106Pro) | |
| 8 | g.19954123T>G | CA370468263 | LPL | c.545T>G (p.Leu182Arg) c.317T>G (p.Leu106Arg) | |
| 8 | g.19954124C>A | CA459879289 | LPL | c.546C>A (p.Leu182=) c.318C>A (p.Leu106=) | |
| 8 | g.19954124C= | CA1769101846 | LPL | c.546C= (p.Leu182=) c.318C= (p.Leu106=) | |
| 8 | g.19954124C>G | CA459879290 | LPL | c.546C>G (p.Leu182=) c.318C>G (p.Leu106=) | ClinVar dbSNP gnomAD v4 |
| 8 | g.19954124C>T | CA459879292 | LPL | c.546C>T (p.Leu182=) c.318C>T (p.Leu106=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.19954125G>A | CA370468264 | LPL | c.547G>A (p.Asp183Asn) c.319G>A (p.Asp107Asn) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.19954125G>C | CA4655467 | LPL | c.547G>C (p.Asp183His) c.319G>C (p.Asp107His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.19954125G= | CA1769101852 | LPL | c.547G= (p.Asp183=) c.319G= (p.Asp107=) | |
| 8 | g.19954125G>T | CA370468265 | LPL | c.547G>T (p.Asp183Tyr) c.319G>T (p.Asp107Tyr) | gnomAD v4 |
| 8 | g.19954126A= | CA1769101863 | LPL | c.548A= (p.Asp183=) c.320A= (p.Asp107=) | |
| 8 | g.19954126A>C | CA370468266 | LPL | c.548A>C (p.Asp183Ala) c.320A>C (p.Asp107Ala) | |
| 8 | g.19954126A>G | CA251872 | LPL | c.548A>G (p.Asp183Gly) c.320A>G (p.Asp107Gly) | ClinVar dbSNP |
| 8 | g.19954126A>T | CA370468267 | LPL | c.548A>T (p.Asp183Val) c.320A>T (p.Asp107Val) | |
| 8 | g.19954127T>A | CA370468268 | LPL | c.549T>A (p.Asp183Glu) c.321T>A (p.Asp107Glu) | |
| 8 | g.19954127T>C | CA459879294 | LPL | c.549T>C (p.Asp183=) c.321T>C (p.Asp107=) | ClinVar dbSNP |
| 8 | g.19954127T>G | CA370468269 | LPL | c.549T>G (p.Asp183Glu) c.321T>G (p.Asp107Glu) | |
| 8 | g.19954128C>A | CA370468272 | LPL | c.550C>A (p.Pro184Thr) c.322C>A (p.Pro108Thr) | |
| 8 | g.19954128C= | CA1769101887 | LPL | c.550C= (p.Pro184=) c.322C= (p.Pro108=) | |
| 8 | g.19954128C>G | CA370468271 | LPL | c.550C>G (p.Pro184Ala) c.322C>G (p.Pro108Ala) | |
| 8 | g.19954128C>T | CA370468270 | LPL | c.550C>T (p.Pro184Ser) c.322C>T (p.Pro108Ser) | ClinVar |
| 8 | g.19954128_19954129insA | CA849558998 | LPL | c.550_551insA (p.Pro184HisfsTer5) c.322_323insA (p.Pro108HisfsTer5) | dbSNP |
| 8 | g.19954129C>A | CA370468273 | LPL | c.551C>A (p.Pro184Gln) c.323C>A (p.Pro108Gln) | |
| 8 | g.19954129C>G | CA370468274 | LPL | c.551C>G (p.Pro184Arg) c.323C>G (p.Pro108Arg) | |
| 8 | g.19954129C>T | CA370468275 | LPL | c.551C>T (p.Pro184Leu) c.323C>T (p.Pro108Leu) | gnomAD v4 COSMIC |
| 8 | g.19954130A>C | CA459879301 | LPL | c.552A>C (p.Pro184=) c.324A>C (p.Pro108=) | |
| 8 | g.19954130A>G | CA459879300 | LPL | c.552A>G (p.Pro184=) c.324A>G (p.Pro108=) | |
| 8 | g.19954130A>T | CA459879299 | LPL | c.552A>T (p.Pro184=) c.324A>T (p.Pro108=) | |
| 8 | g.19954131G>A | CA4655468 | LPL | c.553G>A (p.Ala185Thr) c.325G>A (p.Ala109Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.19954131G>C | CA370468276 | LPL | c.553G>C (p.Ala185Pro) c.325G>C (p.Ala109Pro) | |
| 8 | g.19954131G= | CA1769101897 | LPL | c.553G= (p.Ala185=) c.325G= (p.Ala109=) | |
| 8 | g.19954131G>T | CA370468277 | LPL | c.553G>T (p.Ala185Ser) c.325G>T (p.Ala109Ser) | dbSNP gnomAD v2 |
| 8 | g.19954132C>A | CA370468278 | LPL | c.554C>A (p.Ala185Asp) c.326C>A (p.Ala109Asp) | |
| 8 | g.19954132C>G | CA370468279 | LPL | c.554C>G (p.Ala185Gly) c.326C>G (p.Ala109Gly) | |
| 8 | g.19954132C>T | CA370468280 | LPL | c.554C>T (p.Ala185Val) c.326C>T (p.Ala109Val) | |
| 8 | g.19954133T>A | CA459879309 | LPL | c.555T>A (p.Ala185=) c.327T>A (p.Ala109=) | |
| 8 | g.19954133T>C | CA4655469 | LPL | c.555T>C (p.Ala185=) c.327T>C (p.Ala109=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.19954133T>G | CA459879306 | LPL | c.555T>G (p.Ala185=) c.327T>G (p.Ala109=) | |
| 8 | g.19954133T= | CA1769101903 | LPL | c.555T= (p.Ala185=) c.327T= (p.Ala109=) | |
| 8 | g.19954134G>A | CA370468281 | LPL | c.556G>A (p.Gly186Arg) c.328G>A (p.Gly110Arg) | |
| 8 | g.19954134G>C | CA370468282 | LPL | c.556G>C (p.Gly186Arg) c.328G>C (p.Gly110Arg) | |
| 8 | g.19954134G>T | CA370468283 | LPL | c.556G>T (p.Gly186Ter) c.328G>T (p.Gly110Ter) | |
| 8 | g.19954135G>A | CA370468286 | LPL | c.557G>A (p.Gly186Glu) c.329G>A (p.Gly110Glu) | gnomAD v4 |