Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.19954150_19954166del | CA2573142626 | LPL | c.572_588del (p.Tyr191SerfsTer5) | ClinVar dbSNP |
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 |