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