Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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.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) |