Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.19954227C>A | CA370468476 | LPL | c.649C>A (p.Pro217Thr) | |
8 | g.19954227C= | CA1769102581 | LPL | c.649C= (p.Pro217=) | |
8 | g.19954227C>G | CA370468477 | LPL | c.649C>G (p.Pro217Ala) | dbSNP gnomAD v4 |
8 | g.19954227C>T | CA370468478 | LPL | c.649C>T (p.Pro217Ser) | |
8 | g.19954228C>A | CA370468479 | LPL | c.650C>A (p.Pro217His) | |
8 | g.19954228C>G | CA370468480 | LPL | c.650C>G (p.Pro217Arg) | |
8 | g.19954228C>T | CA370468481 | LPL | c.650C>T (p.Pro217Leu) | |
8 | g.19954229del | CA2695208931 | LPL | c.651del (p.Gly218ValfsTer?) | |
8 | g.19954229T>A | CA459879467 | LPL | c.651T>A (p.Pro217=) | |
8 | g.19954229T>C | CA459879468 | LPL | c.651T>C (p.Pro217=) | |
8 | g.19954229T>G | CA459879469 | LPL | c.651T>G (p.Pro217=) | |
8 | g.19954230G>A | CA370468484 | LPL | c.652G>A (p.Gly218Ser) | |
8 | g.19954230G>C | CA370468483 | LPL | c.652G>C (p.Gly218Arg) | gnomAD v4 |
8 | g.19954230G>T | CA370468482 | LPL | c.652G>T (p.Gly218Cys) | |
8 | g.19954231G>A | CA4655487 | LPL | c.653G>A (p.Gly218Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.19954231G>C | CA370468486 | LPL | c.653G>C (p.Gly218Ala) | gnomAD v4 |
8 | g.19954231G= | CA1769102586 | LPL | c.653G= (p.Gly218=) | |
8 | g.19954231G>T | CA370468485 | LPL | c.653G>T (p.Gly218Val) | |
8 | g.19954232T>A | CA459879470 | LPL | c.654T>A (p.Gly218=) | |
8 | g.19954232T>C | CA459879471 | LPL | c.654T>C (p.Gly218=) | |
8 | g.19954232T>G | CA459879472 | LPL | c.654T>G (p.Gly218=) | |
8 | g.19954233C>A | CA459879473 | LPL | c.655C>A (p.Arg219=) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.19954233C= | CA1769102590 | LPL | c.655C= (p.Arg219=) | |
8 | g.19954233C>G | CA370468487 | LPL | c.655C>G (p.Arg219Gly) | gnomAD v4 |
8 | g.19954233C>T | CA370468488 | LPL | c.655C>T (p.Arg219Ter) | dbSNP gnomAD v4 |
8 | g.19954234G>A | CA173377502 | LPL | c.656G>A (p.Arg219Gln) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.19954234G>C | CA370468489 | LPL | c.656G>C (p.Arg219Pro) | |
8 | g.19954234G= | CA1769102596 | LPL | c.656G= (p.Arg219=) | |
8 | g.19954234G>T | CA370468490 | LPL | c.656G>T (p.Arg219Leu) | |
8 | g.19954235A>C | CA459879474 | LPL | c.657A>C (p.Arg219=) | |
8 | g.19954235A>G | CA459879475 | LPL | c.657A>G (p.Arg219=) | |
8 | g.19954235A>T | CA459879476 | LPL | c.657A>T (p.Arg219=) | |
8 | g.19954236A= | CA1769102597 | LPL | c.658A= (p.Ser220=) | |
8 | g.19954236A>C | CA4655488 | LPL | c.658A>C (p.Ser220Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.19954236A>G | CA370468491 | LPL | c.658A>G (p.Ser220Gly) | |
8 | g.19954236A>T | CA370468492 | LPL | c.658A>T (p.Ser220Cys) | |
8 | g.19954236_19954240delinsCGCAC | CA2695208932 | LPL | c.658_662delinsCGCAC (p.Ser220_Ile221delinsArgThr) | |
8 | g.19954237G>A | CA370468493 | LPL | c.659G>A (p.Ser220Asn) | ClinVar dbSNP |
8 | g.19954237G>C | CA370468494 | LPL | c.659G>C (p.Ser220Thr) | |
8 | g.19954237G>T | CA370468495 | LPL | c.659G>T (p.Ser220Ile) | |
8 | g.19954238C>A | CA370468496 | LPL | c.660C>A (p.Ser220Arg) | |
8 | g.19954238C= | CA1769102602 | LPL | c.660C= (p.Ser220=) | |
8 | g.19954238C>G | CA370468497 | LPL | c.660C>G (p.Ser220Arg) | gnomAD v4 |
8 | g.19954238C>T | CA459879477 | LPL | c.660C>T (p.Ser220=) | dbSNP |
8 | g.19954239A>C | CA370468498 | LPL | c.661A>C (p.Ile221Leu) | |
8 | g.19954239A>G | CA370468500 | LPL | c.661A>G (p.Ile221Val) | |
8 | g.19954239A>T | CA370468499 | LPL | c.661A>T (p.Ile221Phe) | ClinVar dbSNP |
8 | g.19954240T>A | CA370468501 | LPL | c.662T>A (p.Ile221Asn) | ClinVar gnomAD v4 COSMIC |
8 | g.19954240T>C | CA251867 | LPL | c.662T>C (p.Ile221Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.19954240T>G | CA370468502 | LPL | c.662T>G (p.Ile221Ser) |