UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.19954081A>C | CA2534848465 | LPL | c.542-39A>C (n.542-39A>C) c.314-39A>C (n.314-39A>C) | gnomAD v4 |
| 8 | g.19954082A>C | CA2686360435 | LPL | c.542-38A>C (n.542-38A>C) c.314-38A>C (n.314-38A>C) | gnomAD v4 |
| 8 | g.19954082_19954083delinsAT | CA1769101740 | LPL | c.542-38_542-37delinsAT (n.542-38_542-37delinsAT) c.314-38_314-37delinsAT (n.314-38_314-37delinsAT) | |
| 8 | g.19954083T>C | CA2686360436 | LPL | c.542-37T>C (n.542-37T>C) c.314-37T>C (n.314-37T>C) | gnomAD v4 |
| 8 | g.19954085del | CA1769101755 | LPL | c.542-35del (n.542-35del) c.314-35del (n.314-35del) | dbSNP |
| 8 | g.19954084T>G | CA4655455 | LPL | c.542-36T>G (n.542-36T>G) c.314-36T>G (n.314-36T>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.19954084T= | CA1769101759 | LPL | c.542-36T= (n.542-36T=) c.314-36T= (n.314-36T=) | |
| 8 | g.19954087C= | CA1769101764 | LPL | c.542-33C= (n.542-33C=) c.314-33C= (n.314-33C=) | |
| 8 | g.19954087C>G | CA4655456 | LPL | c.542-33C>G (n.542-33C>G) c.314-33C>G (n.314-33C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.19954087C>T | CA4655457 | LPL | c.542-33C>T (n.542-33C>T) c.314-33C>T (n.314-33C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.19954088A= | CA1769101773 | LPL | c.542-32A= (n.542-32A=) c.314-32A= (n.314-32A=) | |
| 8 | g.19954088A>G | CA4655458 | LPL | c.542-32A>G (n.542-32A>G) c.314-32A>G (n.314-32A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.19954089A= | CA1769101774 | LPL | c.542-31A= (n.542-31A=) c.314-31A= (n.314-31A=) | |
| 8 | g.19954089A>C | CA173377389 | LPL | c.542-31A>C (n.542-31A>C) c.314-31A>C (n.314-31A>C) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.19954090A= | CA1769101775 | LPL | c.542-30A= (n.542-30A=) c.314-30A= (n.314-30A=) | |
| 8 | g.19954090A>G | CA580157419 | LPL | c.542-30A>G (n.542-30A>G) c.314-30A>G (n.314-30A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.19954091T>A | CA2686360437 | LPL | c.542-29T>A (n.542-29T>A) c.314-29T>A (n.314-29T>A) | gnomAD v4 |
| 8 | g.19954092C>A | CA2579105848 | LPL | c.542-28C>A (n.542-28C>A) c.314-28C>A (n.314-28C>A) | gnomAD v4 |
| 8 | g.19954094G>C | CA580157421 | LPL | c.542-26G>C (n.542-26G>C) c.314-26G>C (n.314-26G>C) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.19954094G= | CA1769101777 | LPL | c.542-26G= (n.542-26G=) c.314-26G= (n.314-26G=) | |
| 8 | g.19954096G>A | CA580157425 | LPL | c.542-24G>A (n.542-24G>A) c.314-24G>A (n.314-24G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.19954096G= | CA1769101786 | LPL | c.542-24G= (n.542-24G=) c.314-24G= (n.314-24G=) | |
| 8 | g.19954096G>T | CA4655459 | LPL | c.542-24G>T (n.542-24G>T) c.314-24G>T (n.314-24G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.19954097T>A | CA2686360438 | LPL | c.542-23T>A (n.542-23T>A) c.314-23T>A (n.314-23T>A) | gnomAD v4 |
| 8 | g.19954097T>G | CA2716566983 | LPL | c.542-23T>G (n.542-23T>G) c.314-23T>G (n.314-23T>G) | dbSNP |
| 8 | g.19954098dup | CA918215200 | LPL | c.542-22dup (n.542-22dup) c.314-22dup (n.314-22dup) | dbSNP |
| 8 | g.19954099C>A | CA2579105849 | LPL | c.542-21C>A (n.542-21C>A) c.314-21C>A (n.314-21C>A) | gnomAD v4 |
| 8 | g.19954099_19954102delinsCCTG | CA1769101790 | LPL | c.542-21_542-18delinsCCTG (n.542-21_542-18delinsCCTG) c.314-21_314-18delinsCCTG (n.314-21_314-18delinsCCTG) | |
| 8 | g.19954100C= | CA1769101792 | LPL | c.542-20C= (n.542-20C=) c.314-20C= (n.314-20C=) | |
| 8 | g.19954100C>T | CA1769101795 | LPL | c.542-20C>T (n.542-20C>T) c.314-20C>T (n.314-20C>T) | dbSNP |
| 8 | g.19954102_19954104del | CA4655460 | LPL | c.542-18_542-16del (n.542-18_542-16del) c.314-18_314-16del (n.314-18_314-16del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.19954101T>C | CA4655461 | LPL | c.542-19T>C (n.542-19T>C) c.314-19T>C (n.314-19T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.19954101T= | CA1769101796 | LPL | c.542-19T= (n.542-19T=) c.314-19T= (n.314-19T=) | |
| 8 | g.19954102G>A | CA2686360439 | LPL | c.542-18G>A (n.542-18G>A) c.314-18G>A (n.314-18G>A) | gnomAD v4 |
| 8 | g.19954102G>T | CA2697549758 | LPL | c.542-18G>T (n.542-18G>T) c.314-18G>T (n.314-18G>T) | ClinVar |
| 8 | g.19954103C>A | CA2686360440 | LPL | c.542-17C>A (n.542-17C>A) c.314-17C>A (n.314-17C>A) | gnomAD v4 |
| 8 | g.19954103C= | CA1769101798 | LPL | c.542-17C= (n.542-17C=) c.314-17C= (n.314-17C=) | |
| 8 | g.19954104T>C | CA2686360442 | LPL | c.542-16T>C (n.542-16T>C) c.314-16T>C (n.314-16T>C) | gnomAD v4 |
| 8 | g.19954109dup | CA4655462 | LPL | c.542-11dup (n.542-11dup) c.314-11dup (n.314-11dup) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.19954109del | CA2686360441 | LPL | c.542-11del (n.542-11del) c.314-11del (n.314-11del) | gnomAD v4 |
| 8 | g.19954105T>C | CA2686360443 | LPL | c.542-15T>C (n.542-15T>C) c.314-15T>C (n.314-15T>C) | gnomAD v4 |
| 8 | g.19954106T>G | CA2686360444 | LPL | c.542-14T>G (n.542-14T>G) c.314-14T>G (n.314-14T>G) | gnomAD v4 |
| 8 | g.19954107T>A | CA2739279735 | LPL | c.542-13T>A (n.542-13T>A) c.314-13T>A (n.314-13T>A) | ClinVar |
| 8 | g.19954109T>G | CA2686360445 | LPL | c.542-11T>G (n.542-11T>G) c.314-11T>G (n.314-11T>G) | gnomAD v4 |
| 8 | g.19954110C>G | CA2686360446 | LPL | c.542-10C>G (n.542-10C>G) c.314-10C>G (n.314-10C>G) | gnomAD v4 |
| 8 | g.19954112C= | CA1769101807 | LPL | c.542-8C= (n.542-8C=) c.314-8C= (n.314-8C=) | |
| 8 | g.19954112C>T | CA4655463 | LPL | c.542-8C>T (n.542-8C>T) c.314-8C>T (n.314-8C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.19954113T>A | CA2686360447 | LPL | c.542-7T>A (n.542-7T>A) c.314-7T>A (n.314-7T>A) | gnomAD v4 |
| 8 | g.19954113T>C | CA2686360448 | LPL | c.542-7T>C (n.542-7T>C) c.314-7T>C (n.314-7T>C) | gnomAD v4 |
| 8 | g.19954116T>C | CA4655464 | LPL | c.542-4T>C (n.542-4T>C) c.314-4T>C (n.314-4T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.19954116T>G | CA2716372299 | LPL | c.542-4T>G (n.542-4T>G) c.314-4T>G (n.314-4T>G) | dbSNP |
| 8 | g.19954116T= | CA1769101810 | LPL | c.542-4T= (n.542-4T=) c.314-4T= (n.314-4T=) | |
| 8 | g.19954117A= | CA1769101817 | LPL | c.542-3A= (n.542-3A=) c.314-3A= (n.314-3A=) | |
| 8 | g.19954117A>C | CA173377416 | LPL | c.542-3A>C (n.542-3A>C) c.314-3A>C (n.314-3A>C) | dbSNP |
| 8 | g.19954118A>C | CA370468250 | LPL | c.542-2A>C (n.542-2A>C) c.314-2A>C (n.314-2A>C) | |
| 8 | g.19954118A>G | CA370468251 | LPL | c.542-2A>G (n.542-2A>G) c.314-2A>G (n.314-2A>G) | |
| 8 | g.19954118A>T | CA370468252 | LPL | c.542-2A>T (n.542-2A>T) c.314-2A>T (n.314-2A>T) | |
| 8 | g.19954119G>A | CA370468253 | LPL | c.542-1G>A (n.542-1G>A) c.314-1G>A (n.314-1G>A) | dbSNP gnomAD v4 COSMIC |
| 8 | g.19954119G>C | CA370468254 | LPL | c.542-1G>C (n.542-1G>C) c.314-1G>C (n.314-1G>C) | |
| 8 | g.19954119G= | CA1769101826 | LPL | c.542-1G= (n.542-1G=) c.314-1G= (n.314-1G=) | |
| 8 | g.19954119G>T | CA370468255 | LPL | c.542-1G>T (n.542-1G>T) c.314-1G>T (n.314-1G>T) | gnomAD v4 |
| 8 | g.19954120G>A | CA4655466 | LPL | c.542G>A (p.Gly181Asp) c.314G>A (p.Gly105Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.19954120G>C | CA370468256 | LPL | c.542G>C (p.Gly181Ala) c.314G>C (p.Gly105Ala) | |
| 8 | g.19954120G= | CA1769101829 | LPL | c.542G= (p.Gly181=) c.314G= (p.Gly105=) | |
| 8 | g.19954120G>T | CA370468257 | LPL | c.542G>T (p.Gly181Val) c.314G>T (p.Gly105Val) | gnomAD v4 |
| 8 | g.19954120_19954122delinsGCC | CA1769101832 | LPL | c.542_544delinsGCC (p.Gly181=) c.314_316delinsGCC (p.Gly105=) | |
| 8 | g.19954121C>A | CA459879284 | LPL | c.543C>A (p.Gly181=) c.315C>A (p.Gly105=) | |
| 8 | g.19954121C>G | CA459879281 | LPL | c.543C>G (p.Gly181=) c.315C>G (p.Gly105=) | |
| 8 | g.19954121C>T | CA459879283 | LPL | c.543C>T (p.Gly181=) c.315C>T (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) | ClinVar gnomAD v4 |
| 8 | g.19954135G>C | CA370468285 | LPL | c.557G>C (p.Gly186Ala) c.329G>C (p.Gly110Ala) | |
| 8 | g.19954135G>T | CA370468284 | LPL | c.557G>T (p.Gly186Val) c.329G>T (p.Gly110Val) | |
| 8 | g.19954136A>C | CA459879311 | LPL | c.558A>C (p.Gly186=) c.330A>C (p.Gly110=) | |
| 8 | g.19954136A>G | CA459879313 | LPL | c.558A>G (p.Gly186=) c.330A>G (p.Gly110=) | |
| 8 | g.19954136A>T | CA459879312 | LPL | c.558A>T (p.Gly186=) c.330A>T (p.Gly110=) | |
| 8 | g.19954137C>A | CA370468288 | LPL | c.559C>A (p.Pro187Thr) c.331C>A (p.Pro111Thr) | |
| 8 | g.19954137C= | CA1769101910 | LPL | c.559C= (p.Pro187=) c.331C= (p.Pro111=) | |
| 8 | g.19954137C>G | CA370468287 | LPL | c.559C>G (p.Pro187Ala) c.331C>G (p.Pro111Ala) | |
| 8 | g.19954137C>T | CA173377440 | LPL | c.559C>T (p.Pro187Ser) c.331C>T (p.Pro111Ser) | dbSNP COSMIC |
| 8 | g.19954138C>A | CA370468289 | LPL | c.560C>A (p.Pro187His) c.332C>A (p.Pro111His) | |
| 8 | g.19954138C>G | CA370468290 | LPL | c.560C>G (p.Pro187Arg) c.332C>G (p.Pro111Arg) | |
| 8 | g.19954138C>T | CA370468291 | LPL | c.560C>T (p.Pro187Leu) c.332C>T (p.Pro111Leu) | |
| 8 | g.19954139T>A | CA459879319 | LPL | c.561T>A (p.Pro187=) c.333T>A (p.Pro111=) | |
| 8 | g.19954139T>C | CA459879320 | LPL | c.561T>C (p.Pro187=) c.333T>C (p.Pro111=) | |
| 8 | g.19954139T>G | CA459879321 | LPL | c.561T>G (p.Pro187=) c.333T>G (p.Pro111=) | |
| 8 | g.19954140A>C | CA370468292 | LPL | c.562A>C (p.Asn188His) c.334A>C (p.Asn112His) | |
| 8 | g.19954140A>G | CA370468293 | LPL | c.562A>G (p.Asn188Asp) c.334A>G (p.Asn112Asp) | |
| 8 | g.19954140A>T | CA370468294 | LPL | c.562A>T (p.Asn188Tyr) c.334A>T (p.Asn112Tyr) | |
| 8 | g.19954141A>C | CA370468295 | LPL | c.563A>C (p.Asn188Thr) c.335A>C (p.Asn112Thr) | |
| 8 | g.19954141A>G | CA370468296 | LPL | c.563A>G (p.Asn188Ser) c.335A>G (p.Asn112Ser) | |
| 8 | g.19954141A>T | CA370468297 | LPL | c.563A>T (p.Asn188Ile) c.335A>T (p.Asn112Ile) | |
| 8 | g.19954142C>A | CA370468298 | LPL | c.564C>A (p.Asn188Lys) c.336C>A (p.Asn112Lys) | |
| 8 | g.19954142C>G | CA370468299 | LPL | c.564C>G (p.Asn188Lys) c.336C>G (p.Asn112Lys) | |
| 8 | g.19954142C>T | CA459879323 | LPL | c.564C>T (p.Asn188=) c.336C>T (p.Asn112=) | ClinVar gnomAD v4 |
| 8 | g.19954142_19954144delinsCTT | CA1769101914 | LPL | c.564_566delinsCTT (p.Asn188=) c.336_338delinsCTT (p.Asn112=) | |
| 8 | g.19954143T>A | CA370468302 | LPL | c.565T>A (p.Phe189Ile) c.337T>A (p.Phe113Ile) | |
| 8 | g.19954143T>C | CA370468300 | LPL | c.565T>C (p.Phe189Leu) c.337T>C (p.Phe113Leu) | |
| 8 | g.19954143T>G | CA370468301 | LPL | c.565T>G (p.Phe189Val) c.337T>G (p.Phe113Val) | |
| 8 | g.19954145dup | CA580502323 | LPL | c.567dup (p.Glu190Ter) c.339dup (p.Glu114Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.19954144_19954145del | CA1111551648 | LPL | c.566_567del (p.Phe189Ter) c.338_339del (p.Phe113Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.19954144T>A | CA370468303 | LPL | c.566T>A (p.Phe189Tyr) c.338T>A (p.Phe113Tyr) | COSMIC |
| 8 | g.19954144T>C | CA370468304 | LPL | c.566T>C (p.Phe189Ser) c.338T>C (p.Phe113Ser) | |
| 8 | g.19954144T>G | CA370468305 | LPL | c.566T>G (p.Phe189Cys) c.338T>G (p.Phe113Cys) | |
| 8 | g.19954145T>A | CA370468306 | LPL | c.567T>A (p.Phe189Leu) c.339T>A (p.Phe113Leu) | |
| 8 | g.19954145T>C | CA459879326 | LPL | c.567T>C (p.Phe189=) c.339T>C (p.Phe113=) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.19954145T>G | CA370468307 | LPL | c.567T>G (p.Phe189Leu) c.339T>G (p.Phe113Leu) | |
| 8 | g.19954145T= | CA1769101918 | LPL | c.567T= (p.Phe189=) c.339T= (p.Phe113=) | |
| 8 | g.19954146G>A | CA370468308 | LPL | c.568G>A (p.Glu190Lys) c.340G>A (p.Glu114Lys) | ClinVar dbSNP |
| 8 | g.19954146G>C | CA370468309 | LPL | c.568G>C (p.Glu190Gln) c.340G>C (p.Glu114Gln) | |
| 8 | g.19954146G= | CA1769101923 | LPL | c.568G= (p.Glu190=) c.340G= (p.Glu114=) | |
| 8 | g.19954146G>T | CA370468310 | LPL | c.568G>T (p.Glu190Ter) c.340G>T (p.Glu114Ter) | |
| 8 | g.19954150_19954166del | CA2573142626 | LPL | c.572_588del (p.Tyr191SerfsTer5) | ClinVar dbSNP |
| 8 | g.19954147A>C | CA370468311 | LPL | c.569A>C (p.Glu190Ala) c.341A>C (p.Glu114Ala) | |
| 8 | g.19954147A>G | CA370468312 | LPL | c.569A>G (p.Glu190Gly) c.341A>G (p.Glu114Gly) | ClinVar |
| 8 | g.19954147A>T | CA370468313 | LPL | c.569A>T (p.Glu190Val) c.341A>T (p.Glu114Val) | |
| 8 | g.19954148G>A | CA459879332 | LPL | c.570G>A (p.Glu190=) c.342G>A (p.Glu114=) | dbSNP COSMIC |
| 8 | g.19954148G>C | CA370468314 | LPL | c.570G>C (p.Glu190Asp) c.342G>C (p.Glu114Asp) | |
| 8 | g.19954148G= | CA1769101931 | LPL | c.570G= (p.Glu190=) c.342G= (p.Glu114=) | |
| 8 | g.19954148G>T | CA370468315 | LPL | c.570G>T (p.Glu190Asp) c.342G>T (p.Glu114Asp) | |
| 8 | g.19954149T>A | CA370468316 | LPL | c.571T>A (p.Tyr191Asn) c.343T>A (p.Tyr115Asn) | |
| 8 | g.19954149T>C | CA370468317 | LPL | c.571T>C (p.Tyr191His) c.343T>C (p.Tyr115His) | |
| 8 | g.19954149T>G | CA4655470 | LPL | c.571T>G (p.Tyr191Asp) c.343T>G (p.Tyr115Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.19954149T= | CA1769101933 | LPL | c.571T= (p.Tyr191=) c.343T= (p.Tyr115=) | |
| 8 | g.19954150A= | CA1769101936 | LPL | c.572A= (p.Tyr191=) c.344A= (p.Tyr115=) | |
| 8 | g.19954150A>C | CA370468318 | LPL | c.572A>C (p.Tyr191Ser) c.344A>C (p.Tyr115Ser) | |
| 8 | g.19954150A>G | CA370468319 | LPL | c.572A>G (p.Tyr191Cys) c.344A>G (p.Tyr115Cys) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.19954150A>T | CA4655471 | LPL | c.572A>T (p.Tyr191Phe) c.344A>T (p.Tyr115Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.19954151T>A | CA370468320 | LPL | c.573T>A (p.Tyr191Ter) c.345T>A (p.Tyr115Ter) | |
| 8 | g.19954151T>C | CA459879335 | LPL | c.573T>C (p.Tyr191=) c.345T>C (p.Tyr115=) | ClinVar dbSNP |
| 8 | g.19954151T>G | CA370468321 | LPL | c.573T>G (p.Tyr191Ter) c.345T>G (p.Tyr115Ter) | ClinVar gnomAD v4 |
| 8 | g.19954151T= | CA1769101940 | LPL | c.573T= (p.Tyr191=) c.345T= (p.Tyr115=) | |
| 8 | g.19954152G>A | CA370468322 | LPL | c.574G>A (p.Ala192Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.19954152G>C | CA370468323 | LPL | c.574G>C (p.Ala192Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.19954152G= | CA1769101945 | LPL | c.574G= (p.Ala192=) | |
| 8 | g.19954152G>T | CA370468324 | LPL | c.574G>T (p.Ala192Ser) | |
| 8 | g.19954153C>A | CA370468325 | LPL | c.575C>A (p.Ala192Glu) | |
| 8 | g.19954153C>G | CA370468326 | LPL | c.575C>G (p.Ala192Gly) | |
| 8 | g.19954153C>T | CA370468327 | LPL | c.575C>T (p.Ala192Val) | |
| 8 | g.19954154A>C | CA459879340 | LPL | c.576A>C (p.Ala192=) | ClinVar |
| 8 | g.19954154A>G | CA459879341 | LPL | c.576A>G (p.Ala192=) | |
| 8 | g.19954154A>T | CA459879342 | LPL | c.576A>T (p.Ala192=) | |
| 8 | g.19954155G>A | CA370468328 | LPL | c.577G>A (p.Glu193Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.19954155G>C | CA370468329 | LPL | c.577G>C (p.Glu193Gln) | |
| 8 | g.19954155G= | CA1769101948 | LPL | c.577G= (p.Glu193=) | |
| 8 | g.19954155G>T | CA370468330 | LPL | c.577G>T (p.Glu193Ter) | |
| 8 | g.19954156A>C | CA370468333 | LPL | c.578A>C (p.Glu193Ala) | |
| 8 | g.19954156A>G | CA370468332 | LPL | c.578A>G (p.Glu193Gly) | |
| 8 | g.19954156A>T | CA370468331 | LPL | c.578A>T (p.Glu193Val) | |
| 8 | g.19954157A>C | CA370468334 | LPL | c.579A>C (p.Glu193Asp) | |
| 8 | g.19954157A>G | CA459879346 | LPL | c.579A>G (p.Glu193=) | |
| 8 | g.19954157A>T | CA370468335 | LPL | c.579A>T (p.Glu193Asp) | |
| 8 | g.19954158G>A | CA370468336 | LPL | c.580G>A (p.Ala194Thr) | |
| 8 | g.19954158G>C | CA370468337 | LPL | c.580G>C (p.Ala194Pro) | |
| 8 | g.19954158G>T | CA370468338 | LPL | c.580G>T (p.Ala194Ser) | |
| 8 | g.19954159C>A | CA370468339 | LPL | c.581C>A (p.Ala194Asp) | gnomAD v4 |
| 8 | g.19954159C= | CA1769101950 | LPL | c.581C= (p.Ala194=) | |
| 8 | g.19954159C>G | CA4655472 | LPL | c.581C>G (p.Ala194Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.19954159C>T | CA370468340 | LPL | c.581C>T (p.Ala194Val) | gnomAD v4 |
| 8 | g.19954160C>A | CA459879353 | LPL | c.582C>A (p.Ala194=) | COSMIC |
| 8 | g.19954160C>G | CA459879354 | LPL | c.582C>G (p.Ala194=) | |
| 8 | g.19954160C>T | CA459879355 | LPL | c.582C>T (p.Ala194=) | ClinVar dbSNP |
| 8 | g.19954161C>A | CA370468341 | LPL | c.583C>A (p.Pro195Thr) | |
| 8 | g.19954161C>G | CA370468342 | LPL | c.583C>G (p.Pro195Ala) | |
| 8 | g.19954161C>T | CA370468343 | LPL | c.583C>T (p.Pro195Ser) | |
| 8 | g.19954162C>A | CA370468345 | LPL | c.584C>A (p.Pro195Gln) | |
| 8 | g.19954162C= | CA1769101957 | LPL | c.584C= (p.Pro195=) | |
| 8 | g.19954162C>G | CA370468344 | LPL | c.584C>G (p.Pro195Arg) | |
| 8 | g.19954162C>T | CA4655473 | LPL | c.584C>T (p.Pro195Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.19954163G>A | CA4655474 | LPL | c.585G>A (p.Pro195=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.19954163G>C | CA459879360 | LPL | c.585G>C (p.Pro195=) | |
| 8 | g.19954163G= | CA1769101964 | LPL | c.585G= (p.Pro195=) | |
| 8 | g.19954163G>T | CA459879361 | LPL | c.585G>T (p.Pro195=) | |
| 8 | g.19954164A= | CA1769101973 | LPL | c.586A= (p.Ser196=) | |
| 8 | g.19954164A>C | CA370468346 | LPL | c.586A>C (p.Ser196Arg) | |
| 8 | g.19954164A>G | CA370468347 | LPL | c.586A>G (p.Ser196Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.19954164A>T | CA370468348 | LPL | c.586A>T (p.Ser196Cys) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.19954165G>A | CA370468349 | LPL | c.587G>A (p.Ser196Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.19954165G>C | CA370468350 | LPL | c.587G>C (p.Ser196Thr) | ClinVar dbSNP |
| 8 | g.19954165G= | CA1769101978 | LPL | c.587G= (p.Ser196=) | |
| 8 | g.19954165G>T | CA370468351 | LPL | c.587G>T (p.Ser196Ile) | |
| 8 | g.19954166T>A | CA370468352 | LPL | c.588T>A (p.Ser196Arg) | |
| 8 | g.19954166T>C | CA459879368 | LPL | c.588T>C (p.Ser196=) | |
| 8 | g.19954166T>G | CA370468353 | LPL | c.588T>G (p.Ser196Arg) | |
| 8 | g.19954167C>A | CA370468354 | LPL | c.589C>A (p.Arg197Ser) | COSMIC |
| 8 | g.19954167C= | CA1769101982 | LPL | c.589C= (p.Arg197=) | |
| 8 | g.19954167C>G | CA370468355 | LPL | c.589C>G (p.Arg197Gly) | |
| 8 | g.19954167C>T | CA4655475 | LPL | c.589C>T (p.Arg197Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.19954168G>A | CA4655476 | LPL | c.590G>A (p.Arg197His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.19954168G>C | CA370468356 | LPL | c.590G>C (p.Arg197Pro) | gnomAD v4 |
| 8 | g.19954168G= | CA1769101994 | LPL | c.590G= (p.Arg197=) | |
| 8 | g.19954168G>T | CA4655477 | LPL | c.590G>T (p.Arg197Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.19954169T>A | CA459879373 | LPL | c.591T>A (p.Arg197=) | |
| 8 | g.19954169T>C | CA459879374 | LPL | c.591T>C (p.Arg197=) | ClinVar dbSNP |
| 8 | g.19954169T>G | CA459879376 | LPL | c.591T>G (p.Arg197=) | |
| 8 | g.19954169T= | CA1769102002 | LPL | c.591T= (p.Arg197=) | |
| 8 | g.19954170C>A | CA370468357 | LPL | c.592C>A (p.Leu198Ile) | |
| 8 | g.19954170C>G | CA370468358 | LPL | c.592C>G (p.Leu198Val) | ClinVar dbSNP |
| 8 | g.19954170C>T | CA370468359 | LPL | c.592C>T (p.Leu198Phe) | ClinVar gnomAD v4 |
| 8 | g.19954171T>A | CA370468360 | LPL | c.593T>A (p.Leu198His) | |
| 8 | g.19954171T>C | CA173377458 | LPL | c.593T>C (p.Leu198Pro) | dbSNP |
| 8 | g.19954171T>G | CA370468361 | LPL | c.593T>G (p.Leu198Arg) | ClinVar dbSNP |
| 8 | g.19954171T= | CA1769102006 | LPL | c.593T= (p.Leu198=) | |
| 8 | g.19954172T>A | CA459879377 | LPL | c.594T>A (p.Leu198=) | ClinVar |
| 8 | g.19954172T>C | CA459879379 | LPL | c.594T>C (p.Leu198=) | ClinVar |
| 8 | g.19954172T>G | CA459879381 | LPL | c.594T>G (p.Leu198=) | |
| 8 | g.19954173T>A | CA370468362 | LPL | c.595T>A (p.Ser199Thr) | |
| 8 | g.19954173T>C | CA370468363 | LPL | c.595T>C (p.Ser199Pro) | |
| 8 | g.19954173T>G | CA370468364 | LPL | c.595T>G (p.Ser199Ala) | |
| 8 | g.19954174del | CA2695208928 | LPL | c.596del (p.Ser199PhefsTer8) | |
| 8 | g.19954174C>A | CA370468365 | LPL | c.596C>A (p.Ser199Tyr) | dbSNP |
| 8 | g.19954174C= | CA1769102010 | LPL | c.596C= (p.Ser199=) | |
| 8 | g.19954174C>G | CA251882 | LPL | c.596C>G (p.Ser199Cys) | ClinVar dbSNP |
| 8 | g.19954174C>T | CA4655478 | LPL | c.596C>T (p.Ser199Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.19954175T>A | CA459879385 | LPL | c.597T>A (p.Ser199=) | |
| 8 | g.19954175T>C | CA459879387 | LPL | c.597T>C (p.Ser199=) | gnomAD v4 |
| 8 | g.19954175T>G | CA459879390 | LPL | c.597T>G (p.Ser199=) | |
| 8 | g.19954176C>A | CA370468367 | LPL | c.598C>A (p.Pro200Thr) | |
| 8 | g.19954176C= | CA1769102017 | LPL | c.598C= (p.Pro200=) | |
| 8 | g.19954176C>G | CA370468366 | LPL | c.598C>G (p.Pro200Ala) | |
| 8 | g.19954176C>T | CA4655479 | LPL | c.598C>T (p.Pro200Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.19954177del | CA2695208929 | LPL | c.599del (p.Pro200LeufsTer7) | |
| 8 | g.19954177C>A | CA370468368 | LPL | c.599C>A (p.Pro200His) | gnomAD v4 |
| 8 | g.19954177C>G | CA370468370 | LPL | c.599C>G (p.Pro200Arg) | |
| 8 | g.19954177C>T | CA370468369 | LPL | c.599C>T (p.Pro200Leu) | |
| 8 | g.19954178T>A | CA459879396 | LPL | c.600T>A (p.Pro200=) | |
| 8 | g.19954178T>C | CA459879395 | LPL | c.600T>C (p.Pro200=) | |
| 8 | g.19954178T>G | CA459879394 | LPL | c.600T>G (p.Pro200=) | dbSNP |
| 8 | g.19954179G>A | CA370468371 | LPL | c.601G>A (p.Asp201Asn) | |
| 8 | g.19954179G>C | CA370468373 | LPL | c.601G>C (p.Asp201His) | |
| 8 | g.19954179G>T | CA370468372 | LPL | c.601G>T (p.Asp201Tyr) | |
| 8 | g.19954180A= | CA1769102020 | LPL | c.602A= (p.Asp201=) | |
| 8 | g.19954180A>C | CA370468374 | LPL | c.602A>C (p.Asp201Ala) | |
| 8 | g.19954180A>G | CA370468376 | LPL | c.602A>G (p.Asp201Gly) | |
| 8 | g.19954180A>T | CA370468375 | LPL | c.602A>T (p.Asp201Val) | dbSNP gnomAD v3 gnomAD v4 |