| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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) | |
| 8 | g.19954144T>G | CA370468305 | LPL | c.566T>G (p.Phe189Cys) c.338T>G (p.Phe113Cys) | |
| 8 | g.19954145T>A | CA370468306 | LPL | c.567T>A (p.Phe189Leu) c.339T>A (p.Phe113Leu) | |
| 8 | g.19954145T>C | CA459879326 | LPL | c.567T>C (p.Phe189=) c.339T>C (p.Phe113=) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.19954145T>G | CA370468307 | LPL | c.567T>G (p.Phe189Leu) c.339T>G (p.Phe113Leu) | |
| 8 | g.19954145T= | CA1769101918 | LPL | c.567T= (p.Phe189=) c.339T= (p.Phe113=) | |
| 8 | g.19954146G>A | CA370468308 | LPL | c.568G>A (p.Glu190Lys) c.340G>A (p.Glu114Lys) | ClinVar dbSNP |
| 8 | g.19954146G>C | CA370468309 | LPL | c.568G>C (p.Glu190Gln) c.340G>C (p.Glu114Gln) | |
| 8 | g.19954146G= | CA1769101923 | LPL | c.568G= (p.Glu190=) c.340G= (p.Glu114=) | |
| 8 | g.19954146G>T | CA370468310 | LPL | c.568G>T (p.Glu190Ter) c.340G>T (p.Glu114Ter) | |
| 8 | g.19954150_19954166del | CA2573142626 | LPL | c.572_588del (p.Tyr191SerfsTer5) | ClinVar dbSNP |
| 8 | g.19954147A>C | CA370468311 | LPL | c.569A>C (p.Glu190Ala) c.341A>C (p.Glu114Ala) | |
| 8 | g.19954147A>G | CA370468312 | LPL | c.569A>G (p.Glu190Gly) c.341A>G (p.Glu114Gly) | ClinVar |
| 8 | g.19954147A>T | CA370468313 | LPL | c.569A>T (p.Glu190Val) c.341A>T (p.Glu114Val) | |
| 8 | g.19954148G>A | CA459879332 | LPL | c.570G>A (p.Glu190=) c.342G>A (p.Glu114=) | dbSNP COSMIC |
| 8 | g.19954148G>C | CA370468314 | LPL | c.570G>C (p.Glu190Asp) c.342G>C (p.Glu114Asp) | |
| 8 | g.19954148G= | CA1769101931 | LPL | c.570G= (p.Glu190=) c.342G= (p.Glu114=) | |
| 8 | g.19954148G>T | CA370468315 | LPL | c.570G>T (p.Glu190Asp) c.342G>T (p.Glu114Asp) | |
| 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=) |