UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| 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=) | |
| 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 |
| 8 | g.19954163G>A | CA4655474 | LPL | c.585G>A (p.Pro195=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.19954163G>C | CA459879360 | LPL | c.585G>C (p.Pro195=) | |
| 8 | g.19954163G= | CA1769101964 | LPL | c.585G= (p.Pro195=) | |
| 8 | g.19954163G>T | CA459879361 | LPL | c.585G>T (p.Pro195=) | |
| 8 | g.19954164A= | CA1769101973 | LPL | c.586A= (p.Ser196=) | |
| 8 | g.19954164A>C | CA370468346 | LPL | c.586A>C (p.Ser196Arg) | |
| 8 | g.19954164A>G | CA370468347 | LPL | c.586A>G (p.Ser196Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.19954164A>T | CA370468348 | LPL | c.586A>T (p.Ser196Cys) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.19954165G>A | CA370468349 | LPL | c.587G>A (p.Ser196Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.19954165G>C | CA370468350 | LPL | c.587G>C (p.Ser196Thr) | ClinVar dbSNP |
| 8 | g.19954165G= | CA1769101978 | LPL | c.587G= (p.Ser196=) | |
| 8 | g.19954165G>T | CA370468351 | LPL | c.587G>T (p.Ser196Ile) | |
| 8 | g.19954166T>A | CA370468352 | LPL | c.588T>A (p.Ser196Arg) | |
| 8 | g.19954166T>C | CA459879368 | LPL | c.588T>C (p.Ser196=) | |
| 8 | g.19954166T>G | CA370468353 | LPL | c.588T>G (p.Ser196Arg) | |
| 8 | g.19954167C>A | CA370468354 | LPL | c.589C>A (p.Arg197Ser) | COSMIC |
| 8 | g.19954167C= | CA1769101982 | LPL | c.589C= (p.Arg197=) | |
| 8 | g.19954167C>G | CA370468355 | LPL | c.589C>G (p.Arg197Gly) | |
| 8 | g.19954167C>T | CA4655475 | LPL | c.589C>T (p.Arg197Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.19954168G>A | CA4655476 | LPL | c.590G>A (p.Arg197His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.19954168G>C | CA370468356 | LPL | c.590G>C (p.Arg197Pro) | gnomAD v4 |
| 8 | g.19954168G= | CA1769101994 | LPL | c.590G= (p.Arg197=) | |
| 8 | g.19954168G>T | CA4655477 | LPL | c.590G>T (p.Arg197Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.19954169T>A | CA459879373 | LPL | c.591T>A (p.Arg197=) | |
| 8 | g.19954169T>C | CA459879374 | LPL | c.591T>C (p.Arg197=) | ClinVar dbSNP |
| 8 | g.19954169T>G | CA459879376 | LPL | c.591T>G (p.Arg197=) | |
| 8 | g.19954169T= | CA1769102002 | LPL | c.591T= (p.Arg197=) | |
| 8 | g.19954170C>A | CA370468357 | LPL | c.592C>A (p.Leu198Ile) | |
| 8 | g.19954170C>G | CA370468358 | LPL | c.592C>G (p.Leu198Val) | ClinVar dbSNP |
| 8 | g.19954170C>T | CA370468359 | LPL | c.592C>T (p.Leu198Phe) | ClinVar gnomAD v4 |
| 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=) | |
| 8 | g.19954185G>A | CA251860 | LPL | c.607G>A (p.Ala203Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.19954185G>C | CA370468387 | LPL | c.607G>C (p.Ala203Pro) | |
| 8 | g.19954185G= | CA1769102047 | LPL | c.607G= (p.Ala203=) | |
| 8 | g.19954185G>T | CA370468386 | LPL | c.607G>T (p.Ala203Ser) | |
| 8 | g.19954186C>A | CA370468388 | LPL | c.608C>A (p.Ala203Glu) | |
| 8 | g.19954186C>G | CA370468389 | LPL | c.608C>G (p.Ala203Gly) | |
| 8 | g.19954186C>T | CA370468390 | LPL | c.608C>T (p.Ala203Val) | |
| 8 | g.19954187A= | CA1769102051 | LPL | c.609A= (p.Ala203=) | |
| 8 | g.19954187A>C | CA459879415 | LPL | c.609A>C (p.Ala203=) | |
| 8 | g.19954187A>G | CA459879418 | LPL | c.609A>G (p.Ala203=) | |
| 8 | g.19954187A>T | CA459879421 | LPL | c.609A>T (p.Ala203=) | dbSNP |
| 8 | g.19954188G>A | CA370468391 | LPL | c.610G>A (p.Asp204Asn) | gnomAD v4 |
| 8 | g.19954188G>C | CA370468392 | LPL | c.610G>C (p.Asp204His) | |
| 8 | g.19954188G>T | CA370468393 | LPL | c.610G>T (p.Asp204Tyr) | |
| 8 | g.19954189A>C | CA370468394 | LPL | c.611A>C (p.Asp204Ala) | |
| 8 | g.19954189A>G | CA370468395 | LPL | c.611A>G (p.Asp204Gly) | |
| 8 | g.19954189A>T | CA370468396 | LPL | c.611A>T (p.Asp204Val) | gnomAD v4 |
| 8 | g.19954190T>A | CA370468397 | LPL | c.612T>A (p.Asp204Glu) | |
| 8 | g.19954190T>C | CA459879430 | LPL | c.612T>C (p.Asp204=) | dbSNP |
| 8 | g.19954190T>G | CA370468398 | LPL | c.612T>G (p.Asp204Glu) | |
| 8 | g.19954190T= | CA1769102054 | LPL | c.612T= (p.Asp204=) | |
| 8 | g.19954191T>A | CA370468401 | LPL | c.613T>A (p.Phe205Ile) | |
| 8 | g.19954191T>C | CA370468400 | LPL | c.613T>C (p.Phe205Leu) | |
| 8 | g.19954191T>G | CA370468399 | LPL | c.613T>G (p.Phe205Val) | COSMIC |
| 8 | g.19954192T>A | CA370468402 | LPL | c.614T>A (p.Phe205Tyr) | |
| 8 | g.19954192T>C | CA370468403 | LPL | c.614T>C (p.Phe205Ser) | |
| 8 | g.19954192T>G | CA370468404 | LPL | c.614T>G (p.Phe205Cys) | |
| 8 | g.19954193T>A | CA370468405 | LPL | c.615T>A (p.Phe205Leu) | |
| 8 | g.19954193T>C | CA459879437 | LPL | c.615T>C (p.Phe205=) | |
| 8 | g.19954193T>G | CA370468406 | LPL | c.615T>G (p.Phe205Leu) | |
| 8 | g.19954194G>A | CA370468407 | LPL | c.616G>A (p.Val206Ile) | |
| 8 | g.19954194G>C | CA370468408 | LPL | c.616G>C (p.Val206Leu) | |
| 8 | g.19954194G>T | CA370468409 | LPL | c.616G>T (p.Val206Leu) | |
| 8 | g.19954195T>A | CA370468410 | LPL | c.617T>A (p.Val206Glu) | |
| 8 | g.19954195T>C | CA370468411 | LPL | c.617T>C (p.Val206Ala) | gnomAD v4 |
| 8 | g.19954195T>G | CA370468412 | LPL | c.617T>G (p.Val206Gly) | |
| 8 | g.19954196A= | CA1769102060 | LPL | c.618A= (p.Val206=) | |
| 8 | g.19954196A>C | CA459879441 | LPL | c.618A>C (p.Val206=) | |
| 8 | g.19954196A>G | CA4655481 | LPL | c.618A>G (p.Val206=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.19954196A>T | CA459879442 | LPL | c.618A>T (p.Val206=) | |
| 8 | g.19954197G>A | CA370468415 | LPL | c.619G>A (p.Asp207Asn) | |
| 8 | g.19954197G>C | CA370468413 | LPL | c.619G>C (p.Asp207His) | |
| 8 | g.19954197G>T | CA370468414 | LPL | c.619G>T (p.Asp207Tyr) | |
| 8 | g.19954198A>C | CA370468416 | LPL | c.620A>C (p.Asp207Ala) | |
| 8 | g.19954198A>G | CA370468417 | LPL | c.620A>G (p.Asp207Gly) | |
| 8 | g.19954198A>T | CA370468418 | LPL | c.620A>T (p.Asp207Val) | |
| 8 | g.19954199C>A | CA370468419 | LPL | c.621C>A (p.Asp207Glu) | |
| 8 | g.19954199C= | CA1769102071 | LPL | c.621C= (p.Asp207=) | |
| 8 | g.19954199C>G | CA251885 | LPL | c.621C>G (p.Asp207Glu) | ClinVar dbSNP gnomAD v4 |
| 8 | g.19954199C>T | CA4655482 | LPL | c.621C>T (p.Asp207=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.19954200G>A | CA173377479 | LPL | c.622G>A (p.Val208Ile) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.19954200G>C | CA370468420 | LPL | c.622G>C (p.Val208Leu) | |
| 8 | g.19954200G= | CA1769102486 | LPL | c.622G= (p.Val208=) | |
| 8 | g.19954200G>T | CA370468421 | LPL | c.622G>T (p.Val208Phe) | |
| 8 | g.19954201T>A | CA370468422 | LPL | c.623T>A (p.Val208Asp) | |
| 8 | g.19954201T>C | CA370468423 | LPL | c.623T>C (p.Val208Ala) | |
| 8 | g.19954201T>G | CA370468424 | LPL | c.623T>G (p.Val208Gly) | |
| 8 | g.19954202del | CA2695208930 | LPL | c.624del (p.Leu209TyrfsTer?) | |
| 8 | g.19954202C>A | CA459879445 | LPL | c.624C>A (p.Val208=) | |
| 8 | g.19954202C>G | CA459879446 | LPL | c.624C>G (p.Val208=) | |
| 8 | g.19954202C>T | CA459879447 | LPL | c.624C>T (p.Val208=) | |
| 8 | g.19954203T>A | CA370468426 | LPL | c.625T>A (p.Leu209Ile) | |
| 8 | g.19954203T>C | CA459879451 | LPL | c.625T>C (p.Leu209=) | |
| 8 | g.19954203T>G | CA370468425 | LPL | c.625T>G (p.Leu209Val) | gnomAD v4 |
| 8 | g.19954204T>A | CA370468427 | LPL | c.626T>A (p.Leu209Ter) | |
| 8 | g.19954204T>C | CA370468428 | LPL | c.626T>C (p.Leu209Ser) | |
| 8 | g.19954204T>G | CA370468429 | LPL | c.626T>G (p.Leu209Ter) | |
| 8 | g.19954205A>C | CA370468430 | LPL | c.627A>C (p.Leu209Phe) | |
| 8 | g.19954205A>G | CA459879452 | LPL | c.627A>G (p.Leu209=) | |
| 8 | g.19954205A>T | CA370468431 | LPL | c.627A>T (p.Leu209Phe) | |
| 8 | g.19954206C>A | CA370468432 | LPL | c.628C>A (p.His210Asn) | |
| 8 | g.19954206C>G | CA370468433 | LPL | c.628C>G (p.His210Asp) | |
| 8 | g.19954206C>T | CA370468434 | LPL | c.628C>T (p.His210Tyr) | |
| 8 | g.19954207A>C | CA370468435 | LPL | c.629A>C (p.His210Pro) | |
| 8 | g.19954207A>G | CA370468436 | LPL | c.629A>G (p.His210Arg) | |
| 8 | g.19954207A>T | CA370468437 | LPL | c.629A>T (p.His210Leu) | |
| 8 | g.19954208C>A | CA370468438 | LPL | c.630C>A (p.His210Gln) | |
| 8 | g.19954208C>G | CA370468439 | LPL | c.630C>G (p.His210Gln) | gnomAD v4 |
| 8 | g.19954208C>T | CA459879453 | LPL | c.630C>T (p.His210=) | |
| 8 | g.19954209A= | CA1769102491 | LPL | c.631A= (p.Thr211=) | |
| 8 | g.19954209A>C | CA370468441 | LPL | c.631A>C (p.Thr211Pro) | |
| 8 | g.19954209A>G | CA370468440 | LPL | c.631A>G (p.Thr211Ala) | gnomAD v4 |
| 8 | g.19954209A>T | CA4655483 | LPL | c.631A>T (p.Thr211Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.19954210C>A | CA370468442 | LPL | c.632C>A (p.Thr211Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.19954210C= | CA1769102499 | LPL | c.632C= (p.Thr211=) | |
| 8 | g.19954210C>G | CA370468443 | LPL | c.632C>G (p.Thr211Arg) | |
| 8 | g.19954210C>T | CA370468444 | LPL | c.632C>T (p.Thr211Ile) | gnomAD v4 |
| 8 | g.19954211A= | CA1769102506 | LPL | c.633A= (p.Thr211=) | |
| 8 | g.19954211A>C | CA459879454 | LPL | c.633A>C (p.Thr211=) | |
| 8 | g.19954211A>G | CA459879455 | LPL | c.633A>G (p.Thr211=) | ClinVar dbSNP gnomAD v4 |
| 8 | g.19954211A>T | CA459879456 | LPL | c.633A>T (p.Thr211=) | |
| 8 | g.19954212T>A | CA370468445 | LPL | c.634T>A (p.Phe212Ile) | |
| 8 | g.19954212T>C | CA4655484 | LPL | c.634T>C (p.Phe212Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.19954212T>G | CA370468446 | LPL | c.634T>G (p.Phe212Val) | |
| 8 | g.19954212T= | CA1769102518 | LPL | c.634T= (p.Phe212=) | |
| 8 | g.19954213T>A | CA370468447 | LPL | c.635T>A (p.Phe212Tyr) | |
| 8 | g.19954213T>C | CA370468448 | LPL | c.635T>C (p.Phe212Ser) | |
| 8 | g.19954213T>G | CA370468449 | LPL | c.635T>G (p.Phe212Cys) | |
| 8 | g.19954214C>A | CA370468450 | LPL | c.636C>A (p.Phe212Leu) | |
| 8 | g.19954214C= | CA1769102525 | LPL | c.636C= (p.Phe212=) | |
| 8 | g.19954214C>G | CA370468451 | LPL | c.636C>G (p.Phe212Leu) | gnomAD v4 |
| 8 | g.19954214C>T | CA459879457 | LPL | c.636C>T (p.Phe212=) | dbSNP |
| 8 | g.19954215A= | CA1769102531 | LPL | c.637A= (p.Thr213=) | |
| 8 | g.19954215A>C | CA370468452 | LPL | c.637A>C (p.Thr213Pro) | |
| 8 | g.19954215A>G | CA370468453 | LPL | c.637A>G (p.Thr213Ala) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.19954215A>T | CA370468454 | LPL | c.637A>T (p.Thr213Ser) | |
| 8 | g.19954216C>A | CA370468456 | LPL | c.638C>A (p.Thr213Asn) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.19954216C= | CA1769102537 | LPL | c.638C= (p.Thr213=) | |
| 8 | g.19954216C>G | CA370468457 | LPL | c.638C>G (p.Thr213Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.19954216C>T | CA370468455 | LPL | c.638C>T (p.Thr213Ile) | COSMIC |
| 8 | g.19954217C>A | CA459879458 | LPL | c.639C>A (p.Thr213=) | |
| 8 | g.19954217C>G | CA459879459 | LPL | c.639C>G (p.Thr213=) | |
| 8 | g.19954217C>T | CA459879460 | LPL | c.639C>T (p.Thr213=) | |
| 8 | g.19954218A= | CA1769102540 | LPL | c.640A= (p.Arg214=) | |
| 8 | g.19954218A>C | CA459879461 | LPL | c.640A>C (p.Arg214=) | |
| 8 | g.19954218A>G | CA370468458 | LPL | c.640A>G (p.Arg214Gly) | |
| 8 | g.19954218A>T | CA370468459 | LPL | c.640A>T (p.Arg214Ter) | ClinVar dbSNP |
| 8 | g.19954219G>A | CA370468460 | LPL | c.641G>A (p.Arg214Lys) | |
| 8 | g.19954219G>C | CA370468461 | LPL | c.641G>C (p.Arg214Thr) | gnomAD v4 |
| 8 | g.19954219G>T | CA370468462 | LPL | c.641G>T (p.Arg214Ile) | ClinVar gnomAD v4 |
| 8 | g.19954220A= | CA1769102542 | LPL | c.642A= (p.Arg214=) | |
| 8 | g.19954220A>C | CA370468463 | LPL | c.642A>C (p.Arg214Ser) | COSMIC |
| 8 | g.19954220A>G | CA459879462 | LPL | c.642A>G (p.Arg214=) | dbSNP |
| 8 | g.19954220A>T | CA370468464 | LPL | c.642A>T (p.Arg214Ser) | |
| 8 | g.19954221G>A | CA370468465 | LPL | c.643G>A (p.Gly215Arg) | |
| 8 | g.19954221G>C | CA370468467 | LPL | c.643G>C (p.Gly215Arg) | |
| 8 | g.19954221G>T | CA370468466 | LPL | c.643G>T (p.Gly215Trp) | |
| 8 | g.19954222G>A | CA251861 | LPL | c.644G>A (p.Gly215Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.19954222G>C | CA370468468 | LPL | c.644G>C (p.Gly215Ala) | dbSNP gnomAD v2 |
| 8 | g.19954222G= | CA1769102546 | LPL | c.644G= (p.Gly215=) | |
| 8 | g.19954222G>T | CA370468469 | LPL | c.644G>T (p.Gly215Val) | |
| 8 | g.19954223G>A | CA4655485 | LPL | c.645G>A (p.Gly215=) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
| 8 | g.19954223G>C | CA459879463 | LPL | c.645G>C (p.Gly215=) | |
| 8 | g.19954223G= | CA1769102557 | LPL | c.645G= (p.Gly215=) | |
| 8 | g.19954223G>T | CA459879464 | LPL | c.645G>T (p.Gly215=) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.19954224T>A | CA370468470 | LPL | c.646T>A (p.Ser216Thr) | |
| 8 | g.19954224T>C | CA370468472 | LPL | c.646T>C (p.Ser216Pro) | |
| 8 | g.19954224T>G | CA370468471 | LPL | c.646T>G (p.Ser216Ala) | COSMIC |
| 8 | g.19954225C>A | CA370468473 | LPL | c.647C>A (p.Ser216Tyr) | |
| 8 | g.19954225C= | CA1769102562 | LPL | c.647C= (p.Ser216=) | |
| 8 | g.19954225C>G | CA370468474 | LPL | c.647C>G (p.Ser216Cys) | |
| 8 | g.19954225C>T | CA370468475 | LPL | c.647C>T (p.Ser216Phe) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 8 | g.19954226C>A | CA459879466 | LPL | c.648C>A (p.Ser216=) | dbSNP |
| 8 | g.19954226C= | CA1769102573 | LPL | c.648C= (p.Ser216=) | |
| 8 | g.19954226C>G | CA459879465 | LPL | c.648C>G (p.Ser216=) | |
| 8 | g.19954226C>T | CA4655486 | LPL | c.648C>T (p.Ser216=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 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) | |
| 8 | g.19954240T= | CA1769102614 | LPL | c.662T= (p.Ile221=) | |
| 8 | g.19954241T>A | CA459879478 | LPL | c.663T>A (p.Ile221=) | |
| 8 | g.19954241T>C | CA459879479 | LPL | c.663T>C (p.Ile221=) | |
| 8 | g.19954241T>G | CA370468503 | LPL | c.663T>G (p.Ile221Met) | |
| 8 | g.19954242G>A | CA370468504 | LPL | c.664G>A (p.Gly222Arg) | |
| 8 | g.19954242G>C | CA370468505 | LPL | c.664G>C (p.Gly222Arg) | |
| 8 | g.19954242G>T | CA370468506 | LPL | c.664G>T (p.Gly222Ter) | |
| 8 | g.19954243G>A | CA251884 | LPL | c.665G>A (p.Gly222Glu) | ClinVar dbSNP |
| 8 | g.19954243G>C | CA370468507 | LPL | c.665G>C (p.Gly222Ala) | |
| 8 | g.19954243G= | CA1769102620 | LPL | c.665G= (p.Gly222=) | |
| 8 | g.19954243G>T | CA370468508 | LPL | c.665G>T (p.Gly222Val) |