Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 |
8 | g.19954181T>A | CA370468377 | LPL | c.603T>A (p.Asp201Glu) | |
8 | g.19954181T>C | CA459879400 | LPL | c.603T>C (p.Asp201=) | gnomAD v4 |
8 | g.19954181T>G | CA4655480 | LPL | c.603T>G (p.Asp201Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.19954181T= | CA1769102040 | LPL | c.603T= (p.Asp201=) | |
8 | g.19954182G>A | CA370468378 | LPL | c.604G>A (p.Asp202Asn) | gnomAD v4 |
8 | g.19954182G>C | CA370468379 | LPL | c.604G>C (p.Asp202His) | |
8 | g.19954182G>T | CA370468380 | LPL | c.604G>T (p.Asp202Tyr) | |
8 | g.19954183A>C | CA370468381 | LPL | c.605A>C (p.Asp202Ala) | |
8 | g.19954183A>G | CA370468382 | LPL | c.605A>G (p.Asp202Gly) | |
8 | g.19954183A>T | CA370468383 | LPL | c.605A>T (p.Asp202Val) | |
8 | g.19954184T>A | CA370468384 | LPL | c.606T>A (p.Asp202Glu) | |
8 | g.19954184T>C | CA459879410 | LPL | c.606T>C (p.Asp202=) | ClinVar dbSNP gnomAD v4 |
8 | g.19954184T>G | CA370468385 | LPL | c.606T>G (p.Asp202Glu) | |
8 | g.19954184T= | CA1769102042 | LPL | c.606T= (p.Asp202=) |