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.19951753G>A | CA2739279732 | LPL | c.250-16G>A (n.250-16G>A) c.22-16G>A (n.22-16G>A) n.491G>A | ClinVar |
| 8 | g.19951753G>C | CA2779304176 | LPL | c.250-16G>C (n.250-16G>C) c.22-16G>C (n.22-16G>C) n.491G>C | |
| 8 | g.19951753G= | CA1769097426 | LPL | c.250-16G= (n.250-16G=) c.22-16G= (n.22-16G=) n.491G= | |
| 8 | g.19951753G>T | CA4655363 | LPL | c.250-16G>T (n.250-16G>T) c.22-16G>T (n.22-16G>T) n.491G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.19951755G>A | CA1769097429 | LPL | c.250-14G>A (n.250-14G>A) c.22-14G>A (n.22-14G>A) n.493G>A | ClinVar dbSNP gnomAD v4 |
| 8 | g.19951755G= | CA1769097428 | LPL | c.250-14G= (n.250-14G=) c.22-14G= (n.22-14G=) n.493G= | |
| 8 | g.19951755_19951758delinsGTCA | CA1769097427 | LPL | c.250-14_250-11delinsGTCA (n.250-14_250-11delinsGTCA) c.22-14_22-11delinsGTCA (n.22-14_22-11delinsGTCA) n.493_496delinsGTCA | |
| 8 | g.19951761_19951763del | CA4655364 | LPL | c.250-8_250-6del (n.250-8_250-6del) c.22-8_22-6del (n.22-8_22-6del) n.499_501del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.19951757C>A | CA2716564307 | LPL | c.250-12C>A (n.250-12C>A) c.22-12C>A (n.22-12C>A) n.495C>A | dbSNP |
| 8 | g.19951757C>T | CA2686360137 | LPL | c.250-12C>T (n.250-12C>T) c.22-12C>T (n.22-12C>T) n.495C>T | gnomAD v4 |
| 8 | g.19951758A>G | CA2579105786 | LPL | c.250-11A>G (n.250-11A>G) c.22-11A>G (n.22-11A>G) n.496A>G | |
| 8 | g.19951760C= | CA1769097430 | LPL | c.250-9C= (n.250-9C=) c.22-9C= (n.22-9C=) n.498C= | |
| 8 | g.19951760C>G | CA580502386 | LPL | c.250-9C>G (n.250-9C>G) c.22-9C>G (n.22-9C>G) n.498C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.19951760C>T | CA645548328 | LPL | c.250-9C>T (n.250-9C>T) c.22-9C>T (n.22-9C>T) n.498C>T | COSMIC |
| 8 | g.19951761A= | CA1769097431 | LPL | c.250-8A= (n.250-8A=) c.22-8A= (n.22-8A=) n.499A= | |
| 8 | g.19951761A>G | CA4655365 | LPL | c.250-8A>G (n.250-8A>G) c.22-8A>G (n.22-8A>G) n.499A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.19951761A>T | CA2686360138 | LPL | c.250-8A>T (n.250-8A>T) c.22-8A>T (n.22-8A>T) n.499A>T | gnomAD v4 |
| 8 | g.19951762T>C | CA2686360139 | LPL | c.250-7T>C (n.250-7T>C) c.22-7T>C (n.22-7T>C) n.500T>C | ClinVar gnomAD v4 |
| 8 | g.19951763C>A | CA2579105787 | LPL | c.250-6C>A (n.250-6C>A) c.22-6C>A (n.22-6C>A) n.501C>A | |
| 8 | g.19951763C= | CA1769097433 | LPL | c.250-6C= (n.250-6C=) c.22-6C= (n.22-6C=) n.501C= | |
| 8 | g.19951763C>G | CA2686360140 | LPL | c.250-6C>G (n.250-6C>G) c.22-6C>G (n.22-6C>G) n.501C>G | gnomAD v4 |
| 8 | g.19951763C>T | CA4655366 | LPL | c.250-6C>T (n.250-6C>T) c.22-6C>T (n.22-6C>T) n.501C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.19951767A>C | CA370467289 | LPL | c.250-2A>C (n.250-2A>C) c.22-2A>C (n.22-2A>C) n.505A>C | ClinVar |
| 8 | g.19951767A>G | CA370467290 | LPL | c.250-2A>G (n.250-2A>G) c.22-2A>G (n.22-2A>G) n.505A>G | |
| 8 | g.19951767A>T | CA370467292 | LPL | c.250-2A>T (n.250-2A>T) c.22-2A>T (n.22-2A>T) n.505A>T | |
| 8 | g.19951768G>A | CA370467295 | LPL | c.250-1G>A (n.250-1G>A) c.22-1G>A (n.22-1G>A) n.506G>A | ClinVar dbSNP |
| 8 | g.19951768G>C | CA370467297 | LPL | c.250-1G>C (n.250-1G>C) c.22-1G>C (n.22-1G>C) n.506G>C | |
| 8 | g.19951768G= | CA1769097440 | LPL | c.250-1G= (n.250-1G=) c.22-1G= (n.22-1G=) n.506G= | |
| 8 | g.19951768G>T | CA370467299 | LPL | c.250-1G>T (n.250-1G>T) c.22-1G>T (n.22-1G>T) n.506G>T | |
| 8 | g.19951769G>A | CA370467301 | LPL | c.250G>A (p.Val84Ile) c.22G>A (p.Val8Ile) n.507G>A | dbSNP gnomAD v4 |
| 8 | g.19951769G>C | CA370467305 | LPL | c.250G>C (p.Val84Leu) c.22G>C (p.Val8Leu) n.507G>C | |
| 8 | g.19951769G= | CA1769097444 | LPL | c.250G= (p.Val84=) c.22G= (p.Val8=) n.507G= | |
| 8 | g.19951769G>T | CA370467303 | LPL | c.250G>T (p.Val84Leu) c.22G>T (p.Val8Leu) n.507G>T | |
| 8 | g.19951770T>A | CA370467307 | LPL | c.251T>A (p.Val84Glu) c.23T>A (p.Val8Glu) n.508T>A | |
| 8 | g.19951770T>C | CA370467308 | LPL | c.251T>C (p.Val84Ala) c.23T>C (p.Val8Ala) n.508T>C | |
| 8 | g.19951770T>G | CA370467310 | LPL | c.251T>G (p.Val84Gly) c.23T>G (p.Val8Gly) n.508T>G | |
| 8 | g.19951771A>C | CA459678445 | LPL | c.252A>C (p.Val84=) c.24A>C (p.Val8=) n.509A>C | |
| 8 | g.19951771A>G | CA459678446 | LPL | c.252A>G (p.Val84=) c.24A>G (p.Val8=) n.509A>G | |
| 8 | g.19951771A>T | CA459678447 | LPL | c.252A>T (p.Val84=) c.24A>T (p.Val8=) n.509A>T | ClinVar dbSNP |
| 8 | g.19951772A>C | CA370467312 | LPL | c.253A>C (p.Thr85Pro) c.25A>C (p.Thr9Pro) n.510A>C | |
| 8 | g.19951772A>G | CA370467313 | LPL | c.253A>G (p.Thr85Ala) c.25A>G (p.Thr9Ala) n.510A>G | |
| 8 | g.19951772A>T | CA370467315 | LPL | c.253A>T (p.Thr85Ser) c.25A>T (p.Thr9Ser) n.510A>T | |
| 8 | g.19951773C>A | CA370467317 | LPL | c.254C>A (p.Thr85Lys) c.26C>A (p.Thr9Lys) n.511C>A | |
| 8 | g.19951773C= | CA1769097452 | LPL | c.254C= (p.Thr85=) c.26C= (p.Thr9=) n.511C= | |
| 8 | g.19951773C>G | CA4655367 | LPL | c.254C>G (p.Thr85Arg) c.26C>G (p.Thr9Arg) n.511C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.19951773C>T | CA4655368 | LPL | c.254C>T (p.Thr85Ile) c.26C>T (p.Thr9Ile) n.511C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.19951774A>C | CA459678448 | LPL | c.255A>C (p.Thr85=) c.27A>C (p.Thr9=) n.512A>C | |
| 8 | g.19951774A>G | CA459678449 | LPL | c.255A>G (p.Thr85=) c.27A>G (p.Thr9=) n.512A>G | |
| 8 | g.19951774A>T | CA459678450 | LPL | c.255A>T (p.Thr85=) c.27A>T (p.Thr9=) n.512A>T | |
| 8 | g.19951775G>A | CA370467318 | LPL | c.256G>A (p.Gly86Arg) c.28G>A (p.Gly10Arg) n.513G>A | |
| 8 | g.19951775G>C | CA370467320 | LPL | c.256G>C (p.Gly86Arg) c.28G>C (p.Gly10Arg) n.513G>C | |
| 8 | g.19951775G>T | CA370467321 | LPL | c.256G>T (p.Gly86Ter) c.28G>T (p.Gly10Ter) n.513G>T | COSMIC |
| 8 | g.19951776G>A | CA370467324 | LPL | c.257G>A (p.Gly86Glu) c.29G>A (p.Gly10Glu) n.514G>A | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.19951776G>C | CA370467322 | LPL | c.257G>C (p.Gly86Ala) c.29G>C (p.Gly10Ala) n.514G>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.19951776G= | CA1769097457 | LPL | c.257G= (p.Gly86=) c.29G= (p.Gly10=) n.514G= | |
| 8 | g.19951776G>T | CA370467323 | LPL | c.257G>T (p.Gly86Val) c.29G>T (p.Gly10Val) n.514G>T | dbSNP |
| 8 | g.19951777A>C | CA459678451 | LPL | c.258A>C (p.Gly86=) c.30A>C (p.Gly10=) n.515A>C | |
| 8 | g.19951777A>G | CA459678452 | LPL | c.258A>G (p.Gly86=) c.30A>G (p.Gly10=) n.515A>G | |
| 8 | g.19951777A>T | CA459678453 | LPL | c.258A>T (p.Gly86=) c.30A>T (p.Gly10=) n.515A>T | |
| 8 | g.19951778A= | CA1769097460 | LPL | c.259A= (p.Met87=) c.31A= (p.Met11=) n.516A= | |
| 8 | g.19951778A>C | CA370467326 | LPL | c.259A>C (p.Met87Leu) c.31A>C (p.Met11Leu) n.516A>C | |
| 8 | g.19951778A>G | CA370467328 | LPL | c.259A>G (p.Met87Val) c.31A>G (p.Met11Val) n.516A>G | |
| 8 | g.19951778A>T | CA370467330 | LPL | c.259A>T (p.Met87Leu) c.31A>T (p.Met11Leu) n.516A>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.19951779T>A | CA370467332 | LPL | c.260T>A (p.Met87Lys) c.32T>A (p.Met11Lys) n.517T>A | gnomAD v4 |
| 8 | g.19951779T>C | CA10627378 | LPL | c.260T>C (p.Met87Thr) c.32T>C (p.Met11Thr) n.517T>C | ClinVar dbSNP |
| 8 | g.19951779T>G | CA370467334 | LPL | c.260T>G (p.Met87Arg) c.32T>G (p.Met11Arg) n.517T>G | |
| 8 | g.19951779T= | CA1769097469 | LPL | c.260T= (p.Met87=) c.32T= (p.Met11=) n.517T= | |
| 8 | g.19951780G>A | CA4655369 | LPL | c.261G>A (p.Met87Ile) c.33G>A (p.Met11Ile) n.518G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.19951780G>C | CA370467338 | LPL | c.261G>C (p.Met87Ile) c.33G>C (p.Met11Ile) n.518G>C | |
| 8 | g.19951780G= | CA1769097474 | LPL | c.261G= (p.Met87=) c.33G= (p.Met11=) n.518G= | |
| 8 | g.19951780G>T | CA370467339 | LPL | c.261G>T (p.Met87Ile) c.33G>T (p.Met11Ile) n.518G>T | |
| 8 | g.19951781T>A | CA370467341 | LPL | c.262T>A (p.Tyr88Asn) c.34T>A (p.Tyr12Asn) n.519T>A | |
| 8 | g.19951781T>C | CA370467343 | LPL | c.262T>C (p.Tyr88His) c.34T>C (p.Tyr12His) n.519T>C | gnomAD v3 gnomAD v4 |
| 8 | g.19951781T>G | CA370467344 | LPL | c.262T>G (p.Tyr88Asp) c.34T>G (p.Tyr12Asp) n.519T>G | |
| 8 | g.19951782A>C | CA370467350 | LPL | c.263A>C (p.Tyr88Ser) c.35A>C (p.Tyr12Ser) n.520A>C | |
| 8 | g.19951782A>G | CA370467348 | LPL | c.263A>G (p.Tyr88Cys) c.35A>G (p.Tyr12Cys) n.520A>G | |
| 8 | g.19951782A>T | CA370467346 | LPL | c.263A>T (p.Tyr88Phe) c.35A>T (p.Tyr12Phe) n.520A>T | |
| 8 | g.19951783T>A | CA251873 | LPL | c.264T>A (p.Tyr88Ter) c.36T>A (p.Tyr12Ter) n.521T>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.19951783T>C | CA459678454 | LPL | c.264T>C (p.Tyr88=) c.36T>C (p.Tyr12=) n.521T>C | ClinVar dbSNP gnomAD v4 |
| 8 | g.19951783T>G | CA370467351 | LPL | c.264T>G (p.Tyr88Ter) c.36T>G (p.Tyr12Ter) n.521T>G | gnomAD v4 |
| 8 | g.19951783T= | CA1769097478 | LPL | c.264T= (p.Tyr88=) c.36T= (p.Tyr12=) n.521T= | |
| 8 | g.19951784G>A | CA370467355 | LPL | c.265G>A (p.Glu89Lys) c.37G>A (p.Glu13Lys) n.522G>A | |
| 8 | g.19951784G>C | CA370467357 | LPL | c.265G>C (p.Glu89Gln) c.37G>C (p.Glu13Gln) n.522G>C | |
| 8 | g.19951784G>T | CA370467358 | LPL | c.265G>T (p.Glu89Ter) c.37G>T (p.Glu13Ter) n.522G>T | |
| 8 | g.19951785A>C | CA370467360 | LPL | c.266A>C (p.Glu89Ala) c.38A>C (p.Glu13Ala) n.523A>C | |
| 8 | g.19951785A>G | CA370467361 | LPL | c.266A>G (p.Glu89Gly) c.38A>G (p.Glu13Gly) n.523A>G | |
| 8 | g.19951785A>T | CA370467363 | LPL | c.266A>T (p.Glu89Val) c.38A>T (p.Glu13Val) n.523A>T | |
| 8 | g.19951786G>A | CA459678455 | LPL | c.267G>A (p.Glu89=) c.39G>A (p.Glu13=) n.524G>A | ClinVar dbSNP |
| 8 | g.19951786G>C | CA4655370 | LPL | c.267G>C (p.Glu89Asp) c.39G>C (p.Glu13Asp) n.524G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.19951786G= | CA1769097480 | LPL | c.267G= (p.Glu89=) c.39G= (p.Glu13=) n.524G= | |
| 8 | g.19951786G>T | CA370467370 | LPL | c.267G>T (p.Glu89Asp) c.39G>T (p.Glu13Asp) n.524G>T | |
| 8 | g.19951787A= | CA1769097487 | LPL | c.268A= (p.Ser90=) c.40A= (p.Ser14=) n.525A= | |
| 8 | g.19951787A>C | CA370467372 | LPL | c.268A>C (p.Ser90Arg) c.40A>C (p.Ser14Arg) n.525A>C | gnomAD v4 |
| 8 | g.19951787A>G | CA4655371 | LPL | c.268A>G (p.Ser90Gly) c.40A>G (p.Ser14Gly) n.525A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.19951787A>T | CA370467375 | LPL | c.268A>T (p.Ser90Cys) c.40A>T (p.Ser14Cys) n.525A>T | |
| 8 | g.19951788G>A | CA370467379 | LPL | c.269G>A (p.Ser90Asn) c.41G>A (p.Ser14Asn) n.526G>A | gnomAD v4 |
| 8 | g.19951788G>C | CA370467380 | LPL | c.269G>C (p.Ser90Thr) c.41G>C (p.Ser14Thr) n.526G>C | |
| 8 | g.19951788G>T | CA370467377 | LPL | c.269G>T (p.Ser90Ile) c.41G>T (p.Ser14Ile) n.526G>T | |
| 8 | g.19951789T>A | CA370467382 | LPL | c.270T>A (p.Ser90Arg) c.42T>A (p.Ser14Arg) n.527T>A | |
| 8 | g.19951789T>C | CA459678456 | LPL | c.270T>C (p.Ser90=) c.42T>C (p.Ser14=) n.527T>C | ClinVar dbSNP |
| 8 | g.19951789T>G | CA370467384 | LPL | c.270T>G (p.Ser90Arg) c.42T>G (p.Ser14Arg) n.527T>G | |
| 8 | g.19951789T= | CA1769097491 | LPL | c.270T= (p.Ser90=) c.42T= (p.Ser14=) n.527T= | |
| 8 | g.19951790T>A | CA370467386 | LPL | c.271T>A (p.Trp91Arg) c.43T>A (p.Trp15Arg) n.528T>A | |
| 8 | g.19951790T>C | CA370467387 | LPL | c.271T>C (p.Trp91Arg) c.43T>C (p.Trp15Arg) n.528T>C | |
| 8 | g.19951790T>G | CA370467388 | LPL | c.271T>G (p.Trp91Gly) c.43T>G (p.Trp15Gly) n.528T>G | |
| 8 | g.19951791G>A | CA251879 | LPL | c.272G>A (p.Trp91Ter) c.44G>A (p.Trp15Ter) n.529G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.19951791G>C | CA370467390 | LPL | c.272G>C (p.Trp91Ser) c.44G>C (p.Trp15Ser) n.529G>C | ClinVar |
| 8 | g.19951791G= | CA1769097494 | LPL | c.272G= (p.Trp91=) c.44G= (p.Trp15=) n.529G= | |
| 8 | g.19951791G>T | CA370467391 | LPL | c.272G>T (p.Trp91Leu) c.44G>T (p.Trp15Leu) n.529G>T | |
| 8 | g.19951792G>A | CA4655372 | LPL | c.273G>A (p.Trp91Ter) c.45G>A (p.Trp15Ter) n.530G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.19951792G>C | CA370467394 | LPL | c.273G>C (p.Trp91Cys) c.45G>C (p.Trp15Cys) n.530G>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.19951792G= | CA1769097501 | LPL | c.273G= (p.Trp91=) c.45G= (p.Trp15=) n.530G= | |
| 8 | g.19951792G>T | CA370467395 | LPL | c.273G>T (p.Trp91Cys) c.45G>T (p.Trp15Cys) n.530G>T | |
| 8 | g.19951793G>A | CA370467397 | LPL | c.274G>A (p.Val92Met) c.46G>A (p.Val16Met) n.531G>A | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.19951793G>C | CA370467400 | LPL | c.274G>C (p.Val92Leu) c.46G>C (p.Val16Leu) n.531G>C | gnomAD v4 |
| 8 | g.19951793G= | CA1769097510 | LPL | c.274G= (p.Val92=) c.46G= (p.Val16=) n.531G= | |
| 8 | g.19951793G>T | CA370467402 | LPL | c.274G>T (p.Val92Leu) c.46G>T (p.Val16Leu) n.531G>T | |
| 8 | g.19951794del | CA2686360141 | LPL | c.275del (p.Val92GlyfsTer?) c.47del (p.Val16GlyfsTer?) n.532del | gnomAD v4 |
| 8 | g.19951794T>A | CA370467404 | LPL | c.275T>A (p.Val92Glu) c.47T>A (p.Val16Glu) n.532T>A | |
| 8 | g.19951794T>C | CA370467407 | LPL | c.275T>C (p.Val92Ala) c.47T>C (p.Val16Ala) n.532T>C | |
| 8 | g.19951794T>G | CA370467406 | LPL | c.275T>G (p.Val92Gly) c.47T>G (p.Val16Gly) n.532T>G | |
| 8 | g.19951795G>A | CA4655373 | LPL | c.276G>A (p.Val92=) c.48G>A (p.Val16=) n.533G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.19951795G>C | CA459678457 | LPL | c.276G>C (p.Val92=) c.48G>C (p.Val16=) n.533G>C | |
| 8 | g.19951795G= | CA1769097516 | LPL | c.276G= (p.Val92=) c.48G= (p.Val16=) n.533G= | |
| 8 | g.19951795G>T | CA459678458 | LPL | c.276G>T (p.Val92=) c.48G>T (p.Val16=) n.533G>T | |
| 8 | g.19951796C>A | CA370467410 | LPL | c.277C>A (p.Pro93Thr) c.49C>A (p.Pro17Thr) n.534C>A | |
| 8 | g.19951796C= | CA1769097520 | LPL | c.277C= (p.Pro93=) c.49C= (p.Pro17=) n.534C= | |
| 8 | g.19951796C>G | CA370467411 | LPL | c.277C>G (p.Pro93Ala) c.49C>G (p.Pro17Ala) n.534C>G | |
| 8 | g.19951796C>T | CA370467413 | LPL | c.277C>T (p.Pro93Ser) c.49C>T (p.Pro17Ser) n.534C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.19951797C>A | CA370467415 | LPL | c.278C>A (p.Pro93Gln) c.50C>A (p.Pro17Gln) n.535C>A | |
| 8 | g.19951797C>G | CA370467416 | LPL | c.278C>G (p.Pro93Arg) c.50C>G (p.Pro17Arg) n.535C>G | |
| 8 | g.19951797C>T | CA370467418 | LPL | c.278C>T (p.Pro93Leu) c.50C>T (p.Pro17Leu) n.535C>T | gnomAD v4 |
| 8 | g.19951798A>C | CA459678462 | LPL | c.279A>C (p.Pro93=) c.51A>C (p.Pro17=) n.536A>C | |
| 8 | g.19951798A>G | CA459678461 | LPL | c.279A>G (p.Pro93=) c.51A>G (p.Pro17=) n.536A>G | |
| 8 | g.19951798A>T | CA459678459 | LPL | c.279A>T (p.Pro93=) c.51A>T (p.Pro17=) n.536A>T | |
| 8 | g.19951801del | CA459678460 | LPL | c.282del (p.Lys94AsnfsTer?) c.54del (p.Lys18AsnfsTer?) n.539del | COSMIC |
| 8 | g.19951799A>C | CA370467420 | LPL | c.280A>C (p.Lys94Gln) c.52A>C (p.Lys18Gln) n.537A>C | |
| 8 | g.19951799A>G | CA370467422 | LPL | c.280A>G (p.Lys94Glu) c.52A>G (p.Lys18Glu) n.537A>G | |
| 8 | g.19951799A>T | CA370467424 | LPL | c.280A>T (p.Lys94Ter) c.52A>T (p.Lys18Ter) n.537A>T | |
| 8 | g.19951800A>C | CA370467428 | LPL | c.281A>C (p.Lys94Thr) c.53A>C (p.Lys18Thr) n.538A>C | |
| 8 | g.19951800A>G | CA370467429 | LPL | c.281A>G (p.Lys94Arg) c.53A>G (p.Lys18Arg) n.538A>G | |
| 8 | g.19951800A>T | CA370467426 | LPL | c.281A>T (p.Lys94Ile) c.53A>T (p.Lys18Ile) n.538A>T | |
| 8 | g.19951801A>C | CA370467431 | LPL | c.282A>C (p.Lys94Asn) c.54A>C (p.Lys18Asn) n.539A>C | |
| 8 | g.19951801A>G | CA459678463 | LPL | c.282A>G (p.Lys94=) c.54A>G (p.Lys18=) n.539A>G | |
| 8 | g.19951801A>T | CA370467432 | LPL | c.282A>T (p.Lys94Asn) c.54A>T (p.Lys18Asn) n.539A>T | |
| 8 | g.19951802C>A | CA370467434 | LPL | c.283C>A (p.Leu95Ile) c.55C>A (p.Leu19Ile) n.540C>A | |
| 8 | g.19951802C>G | CA370467436 | LPL | c.283C>G (p.Leu95Val) c.55C>G (p.Leu19Val) n.540C>G | |
| 8 | g.19951802C>T | CA370467438 | LPL | c.283C>T (p.Leu95Phe) c.55C>T (p.Leu19Phe) n.540C>T | gnomAD v4 |
| 8 | g.19951803T>A | CA370467440 | LPL | c.284T>A (p.Leu95His) c.56T>A (p.Leu19His) n.541T>A | |
| 8 | g.19951803T>C | CA370467442 | LPL | c.284T>C (p.Leu95Pro) c.56T>C (p.Leu19Pro) n.541T>C | |
| 8 | g.19951803T>G | CA370467444 | LPL | c.284T>G (p.Leu95Arg) c.56T>G (p.Leu19Arg) n.541T>G | |
| 8 | g.19951804T>A | CA459678464 | LPL | c.285T>A (p.Leu95=) c.57T>A (p.Leu19=) n.542T>A | |
| 8 | g.19951804T>C | CA459678466 | LPL | c.285T>C (p.Leu95=) c.57T>C (p.Leu19=) n.542T>C | ClinVar dbSNP gnomAD v4 |
| 8 | g.19951804T>G | CA459678465 | LPL | c.285T>G (p.Leu95=) c.57T>G (p.Leu19=) n.542T>G | ClinVar dbSNP |
| 8 | g.19951804T= | CA1769097527 | LPL | c.285T= (p.Leu95=) c.57T= (p.Leu19=) n.542T= | |
| 8 | g.19951806_19951807del | CA2695208916 | LPL | c.287_288del (p.Val96GlyfsTer?) c.59_60del (p.Val20GlyfsTer?) n.544_545del | |
| 8 | g.19951805G>A | CA370467446 | LPL | c.286G>A (p.Val96Met) c.58G>A (p.Val20Met) n.543G>A | |
| 8 | g.19951805G>C | CA4655374 | LPL | c.286G>C (p.Val96Leu) c.58G>C (p.Val20Leu) n.543G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.19951805G= | CA1769097532 | LPL | c.286G= (p.Val96=) c.58G= (p.Val20=) n.543G= | |
| 8 | g.19951805G>T | CA370467448 | LPL | c.286G>T (p.Val96Leu) c.58G>T (p.Val20Leu) n.543G>T | |
| 8 | g.19951806T>A | CA370467451 | LPL | c.287T>A (p.Val96Glu) c.59T>A (p.Val20Glu) n.544T>A | |
| 8 | g.19951806T>C | CA370467453 | LPL | c.287T>C (p.Val96Ala) c.59T>C (p.Val20Ala) n.544T>C | |
| 8 | g.19951806T>G | CA370467450 | LPL | c.287T>G (p.Val96Gly) c.59T>G (p.Val20Gly) n.544T>G | |
| 8 | g.19951807G>A | CA173376338 | LPL | c.288G>A (p.Val96=) c.60G>A (p.Val20=) n.545G>A | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.19951807G>C | CA459678467 | LPL | c.288G>C (p.Val96=) c.60G>C (p.Val20=) n.545G>C | gnomAD v4 |
| 8 | g.19951807G= | CA1769097538 | LPL | c.288G= (p.Val96=) c.60G= (p.Val20=) n.545G= | |
| 8 | g.19951807G>T | CA459678468 | LPL | c.288G>T (p.Val96=) c.60G>T (p.Val20=) n.545G>T | |
| 8 | g.19951807_19951813delinsGGCCGCC | CA1769097536 | LPL | c.288_294delinsGGCCGCC (p.Val96=) c.60_66delinsGGCCGCC (p.Val20=) n.545_551delinsGGCCGCC | |
| 8 | g.19951808G>A | CA370467454 | LPL | c.289G>A (p.Ala97Thr) c.61G>A (p.Ala21Thr) n.546G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.19951808G>C | CA370467455 | LPL | c.289G>C (p.Ala97Pro) c.61G>C (p.Ala21Pro) n.546G>C | |
| 8 | g.19951808G= | CA1769097553 | LPL | c.289G= (p.Ala97=) c.61G= (p.Ala21=) n.546G= | |
| 8 | g.19951808G>T | CA370467457 | LPL | c.289G>T (p.Ala97Ser) c.61G>T (p.Ala21Ser) n.546G>T | |
| 8 | g.19951808_19951813delinsTTTGCCAAAA | CA1139660383 | LPL | c.289_294delinsTTTGCCAAAA (p.Ala97PhefsTer?) c.61_66delinsTTTGCCAAAA (p.Ala21PhefsTer?) n.546_551delinsTTTGCCAAAA | ClinVar dbSNP |
| 8 | g.19951809C>A | CA370467458 | LPL | c.290C>A (p.Ala97Asp) c.62C>A (p.Ala21Asp) n.547C>A | |
| 8 | g.19951809C= | CA1769097561 | LPL | c.290C= (p.Ala97=) c.62C= (p.Ala21=) n.547C= | |
| 8 | g.19951809C>G | CA370467460 | LPL | c.290C>G (p.Ala97Gly) c.62C>G (p.Ala21Gly) n.547C>G | |
| 8 | g.19951809C>T | CA4655375 | LPL | c.290C>T (p.Ala97Val) c.62C>T (p.Ala21Val) n.547C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.19951809_19951812delinsGG | CA2695208918 | LPL | c.290_293delinsGG (p.Ala97GlyfsTer?) c.62_65delinsGG (p.Ala21GlyfsTer?) n.547_550delinsGG | |
| 8 | g.19951811_19951814del | CA2695208917 | LPL | c.292_295del (p.Ala98CysfsTer?) c.64_67del (p.Ala22CysfsTer?) n.549_552del | |
| 8 | g.19951810C>A | CA459678469 | LPL | c.291C>A (p.Ala97=) c.63C>A (p.Ala21=) n.548C>A | |
| 8 | g.19951810C= | CA1769097573 | LPL | c.291C= (p.Ala97=) c.63C= (p.Ala21=) n.548C= | |
| 8 | g.19951810C>G | CA459678471 | LPL | c.291C>G (p.Ala97=) c.63C>G (p.Ala21=) n.548C>G | |
| 8 | g.19951810C>T | CA459678470 | LPL | c.291C>T (p.Ala97=) c.63C>T (p.Ala21=) n.548C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.19951811G>A | CA4655376 | LPL | c.292G>A (p.Ala98Thr) c.64G>A (p.Ala22Thr) n.549G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.19951811G>C | CA370467464 | LPL | c.292G>C (p.Ala98Pro) c.64G>C (p.Ala22Pro) n.549G>C | |
| 8 | g.19951811G= | CA1769097580 | LPL | c.292G= (p.Ala98=) c.64G= (p.Ala22=) n.549G= | |
| 8 | g.19951811G>T | CA370467463 | LPL | c.292G>T (p.Ala98Ser) c.64G>T (p.Ala22Ser) n.549G>T | dbSNP |
| 8 | g.19951812C>A | CA370467467 | LPL | c.293C>A (p.Ala98Asp) c.65C>A (p.Ala22Asp) n.550C>A | |
| 8 | g.19951812C= | CA1769097584 | LPL | c.293C= (p.Ala98=) c.65C= (p.Ala22=) n.550C= | |
| 8 | g.19951812C>G | CA370467469 | LPL | c.293C>G (p.Ala98Gly) c.65C>G (p.Ala22Gly) n.550C>G | |
| 8 | g.19951812C>T | CA4655377 | LPL | c.293C>T (p.Ala98Val) c.65C>T (p.Ala22Val) n.550C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.19951813C>A | CA459678472 | LPL | c.294C>A (p.Ala98=) c.66C>A (p.Ala22=) n.551C>A | |
| 8 | g.19951813C>G | CA459678473 | LPL | c.294C>G (p.Ala98=) c.66C>G (p.Ala22=) n.551C>G | |
| 8 | g.19951813C>T | CA459678474 | LPL | c.294C>T (p.Ala98=) c.66C>T (p.Ala22=) n.551C>T | ClinVar gnomAD v4 |
| 8 | g.19951814C>A | CA370467471 | LPL | c.295C>A (p.Leu99Met) c.67C>A (p.Leu23Met) n.552C>A | |
| 8 | g.19951814C= | CA1769097591 | LPL | c.295C= (p.Leu99=) c.67C= (p.Leu23=) n.552C= | |
| 8 | g.19951814C>G | CA370467473 | LPL | c.295C>G (p.Leu99Val) c.67C>G (p.Leu23Val) n.552C>G | |
| 8 | g.19951814C>T | CA173376350 | LPL | c.295C>T (p.Leu99=) c.67C>T (p.Leu23=) n.552C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.19951815T>A | CA370467476 | LPL | c.296T>A (p.Leu99Gln) c.68T>A (p.Leu23Gln) n.553T>A | |
| 8 | g.19951815T>C | CA370467478 | LPL | c.296T>C (p.Leu99Pro) c.68T>C (p.Leu23Pro) n.553T>C | |
| 8 | g.19951815T>G | CA370467475 | LPL | c.296T>G (p.Leu99Arg) c.68T>G (p.Leu23Arg) n.553T>G | |
| 8 | g.19951816G>A | CA459678475 | LPL | c.297G>A (p.Leu99=) c.69G>A (p.Leu23=) n.554G>A | COSMIC |
| 8 | g.19951816G>C | CA459678476 | LPL | c.297G>C (p.Leu99=) c.69G>C (p.Leu23=) n.554G>C | |
| 8 | g.19951816G>T | CA459678477 | LPL | c.297G>T (p.Leu99=) c.69G>T (p.Leu23=) n.554G>T | gnomAD v4 |
| 8 | g.19951817T>A | CA370467481 | LPL | c.298T>A (p.Tyr100Asn) c.70T>A (p.Tyr24Asn) n.555T>A | |
| 8 | g.19951817T>C | CA370467482 | LPL | c.298T>C (p.Tyr100His) c.70T>C (p.Tyr24His) n.555T>C | |
| 8 | g.19951817T>G | CA370467484 | LPL | c.298T>G (p.Tyr100Asp) c.70T>G (p.Tyr24Asp) n.555T>G | |
| 8 | g.19951818A= | CA1769097597 | LPL | c.299A= (p.Tyr100=) c.71A= (p.Tyr24=) n.556A= | |
| 8 | g.19951818A>C | CA370467486 | LPL | c.299A>C (p.Tyr100Ser) c.71A>C (p.Tyr24Ser) n.556A>C | |
| 8 | g.19951818A>G | CA370467487 | LPL | c.299A>G (p.Tyr100Cys) c.71A>G (p.Tyr24Cys) n.556A>G | dbSNP |
| 8 | g.19951818A>T | CA370467488 | LPL | c.299A>T (p.Tyr100Phe) c.71A>T (p.Tyr24Phe) n.556A>T | |
| 8 | g.19951819C>A | CA251869 | LPL | c.300C>A (p.Tyr100Ter) c.72C>A (p.Tyr24Ter) n.557C>A | ClinVar dbSNP |
| 8 | g.19951819C= | CA1769097612 | LPL | c.300C= (p.Tyr100=) c.72C= (p.Tyr24=) n.557C= | |
| 8 | g.19951819C>G | CA370467491 | LPL | c.300C>G (p.Tyr100Ter) c.72C>G (p.Tyr24Ter) n.557C>G | |
| 8 | g.19951819C>T | CA173376354 | LPL | c.300C>T (p.Tyr100=) c.72C>T (p.Tyr24=) n.557C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.19951820A= | CA1769097618 | LPL | c.301A= (p.Lys101=) c.73A= (p.Lys25=) n.558A= | |
| 8 | g.19951820A>C | CA370467493 | LPL | c.301A>C (p.Lys101Gln) c.73A>C (p.Lys25Gln) n.558A>C | |
| 8 | g.19951820A>G | CA370467495 | LPL | c.301A>G (p.Lys101Glu) c.73A>G (p.Lys25Glu) n.558A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.19951820A>T | CA370467497 | LPL | c.301A>T (p.Lys101Ter) c.73A>T (p.Lys25Ter) n.558A>T | |
| 8 | g.19951821A>C | CA370467498 | LPL | c.302A>C (p.Lys101Thr) c.74A>C (p.Lys25Thr) n.559A>C | |
| 8 | g.19951821A>G | CA370467499 | LPL | c.302A>G (p.Lys101Arg) c.74A>G (p.Lys25Arg) n.559A>G | |
| 8 | g.19951821A>T | CA370467501 | LPL | c.302A>T (p.Lys101Met) c.74A>T (p.Lys25Met) n.559A>T | |
| 8 | g.19951822G>A | CA459678478 | LPL | c.303G>A (p.Lys101=) c.75G>A (p.Lys25=) n.560G>A | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.19951822G>C | CA370467503 | LPL | c.303G>C (p.Lys101Asn) c.75G>C (p.Lys25Asn) n.560G>C | gnomAD v4 |
| 8 | g.19951822G= | CA1769097621 | LPL | c.303G= (p.Lys101=) c.75G= (p.Lys25=) n.560G= | |
| 8 | g.19951822G>T | CA4655378 | LPL | c.303G>T (p.Lys101Asn) c.75G>T (p.Lys25Asn) n.560G>T | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 8 | g.19951823A>C | CA459678479 | LPL | c.304A>C (p.Arg102=) c.76A>C (p.Arg26=) n.561A>C | |
| 8 | g.19951823A>G | CA370467505 | LPL | c.304A>G (p.Arg102Gly) c.76A>G (p.Arg26Gly) n.561A>G | |
| 8 | g.19951823A>T | CA370467507 | LPL | c.304A>T (p.Arg102Ter) c.76A>T (p.Arg26Ter) n.561A>T | |
| 8 | g.19951824G>A | CA4655379 | LPL | c.305G>A (p.Arg102Lys) c.77G>A (p.Arg26Lys) n.562G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.19951824G>C | CA370467509 | LPL | c.305G>C (p.Arg102Thr) c.77G>C (p.Arg26Thr) n.562G>C | ClinVar dbSNP |
| 8 | g.19951824G= | CA1769097624 | LPL | c.305G= (p.Arg102=) c.77G= (p.Arg26=) n.562G= | |
| 8 | g.19951824G>T | CA370467511 | LPL | c.305G>T (p.Arg102Ile) c.77G>T (p.Arg26Ile) n.562G>T | |
| 8 | g.19951825A= | CA1769097632 | LPL | c.306A= (p.Arg102=) c.78A= (p.Arg26=) n.563A= | |
| 8 | g.19951825A>C | CA251883 | LPL | c.306A>C (p.Arg102Ser) c.78A>C (p.Arg26Ser) n.563A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.19951825A>G | CA459678480 | LPL | c.306A>G (p.Arg102=) c.78A>G (p.Arg26=) n.563A>G | |
| 8 | g.19951825A>T | CA370467514 | LPL | c.306A>T (p.Arg102Ser) c.78A>T (p.Arg26Ser) n.563A>T | |
| 8 | g.19951826G>A | CA370467519 | LPL | c.307G>A (p.Glu103Lys) c.79G>A (p.Glu27Lys) n.564G>A | |
| 8 | g.19951826G>C | CA370467516 | LPL | c.307G>C (p.Glu103Gln) c.79G>C (p.Glu27Gln) n.564G>C | |
| 8 | g.19951826G>T | CA370467518 | LPL | c.307G>T (p.Glu103Ter) c.79G>T (p.Glu27Ter) n.564G>T | COSMIC |
| 8 | g.19951827A>C | CA370467520 | LPL | c.308A>C (p.Glu103Ala) c.80A>C (p.Glu27Ala) n.565A>C | |
| 8 | g.19951827A>G | CA370467522 | LPL | c.308A>G (p.Glu103Gly) c.80A>G (p.Glu27Gly) n.565A>G | |
| 8 | g.19951827A>T | CA370467524 | LPL | c.308A>T (p.Glu103Val) c.80A>T (p.Glu27Val) n.565A>T | |
| 8 | g.19951828A= | CA1769097647 | LPL | c.309A= (p.Glu103=) c.81A= (p.Glu27=) n.566A= | |
| 8 | g.19951828A>C | CA370467526 | LPL | c.309A>C (p.Glu103Asp) c.81A>C (p.Glu27Asp) n.566A>C | |
| 8 | g.19951828A>G | CA459678481 | LPL | c.309A>G (p.Glu103=) c.81A>G (p.Glu27=) n.566A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.19951828A>T | CA370467527 | LPL | c.309A>T (p.Glu103Asp) c.81A>T (p.Glu27Asp) n.566A>T | |
| 8 | g.19951828_19951829insAAAT | CA580502395 | LPL | c.309_310insAAAT (p.Pro104LysfsTer?) c.81_82insAAAT (p.Pro28LysfsTer?) | gnomAD v2 |
| 8 | g.19951829C>A | CA370467528 | LPL | c.310C>A (p.Pro104Thr) c.82C>A (p.Pro28Thr) | |
| 8 | g.19951829C= | CA1769097654 | LPL | c.310C= (p.Pro104=) c.82C= (p.Pro28=) | |
| 8 | g.19951829C>G | CA370467530 | LPL | c.310C>G (p.Pro104Ala) c.82C>G (p.Pro28Ala) | |
| 8 | g.19951829C>T | CA370467529 | LPL | c.310C>T (p.Pro104Ser) c.82C>T (p.Pro28Ser) | |
| 8 | g.19951829_19951830insAAATAA | CA2554245665 | LPL | c.310_311insAAATAA (p.Pro104delinsGlnIleThr) c.82_83insAAATAA (p.Pro28delinsGlnIleThr) | |
| 8 | g.19951829_19951830insAAATAACAGAA | CA580502396 | LPL | c.310_311insAAATAACAGAA (p.Pro104GlnfsTer?) c.82_83insAAATAACAGAA (p.Pro28GlnfsTer?) | dbSNP gnomAD v2 |
| 8 | g.19951830C>A | CA370467531 | LPL | c.311C>A (p.Pro104Gln) c.83C>A (p.Pro28Gln) | |
| 8 | g.19951830C= | CA1769097663 | LPL | c.311C= (p.Pro104=) c.83C= (p.Pro28=) | |
| 8 | g.19951830C>G | CA4655380 | LPL | c.311C>G (p.Pro104Arg) c.83C>G (p.Pro28Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.19951830C>T | CA370467532 | LPL | c.311C>T (p.Pro104Leu) c.83C>T (p.Pro28Leu) | |
| 8 | g.19951831del | CA2695208919 | LPL | c.312del (p.Asp105ThrfsTer?) c.84del (p.Asp29ThrfsTer?) | |
| 8 | g.19951831A>C | CA459678482 | LPL | c.312A>C (p.Pro104=) c.84A>C (p.Pro28=) | |
| 8 | g.19951831A>G | CA459678483 | LPL | c.312A>G (p.Pro104=) c.84A>G (p.Pro28=) | gnomAD v4 |
| 8 | g.19951831A>T | CA459678484 | LPL | c.312A>T (p.Pro104=) c.84A>T (p.Pro28=) | |
| 8 | g.19951832G>A | CA370467533 | LPL | c.313G>A (p.Asp105Asn) c.85G>A (p.Asp29Asn) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.19951832G>C | CA370467534 | LPL | c.313G>C (p.Asp105His) c.85G>C (p.Asp29His) | COSMIC |
| 8 | g.19951832G= | CA1769097669 | LPL | c.313G= (p.Asp105=) c.85G= (p.Asp29=) | |
| 8 | g.19951832G>T | CA370467535 | LPL | c.313G>T (p.Asp105Tyr) c.85G>T (p.Asp29Tyr) | |
| 8 | g.19951833A= | CA1769097680 | LPL | c.314A= (p.Asp105=) c.86A= (p.Asp29=) | |
| 8 | g.19951833A>C | CA173376374 | LPL | c.314A>C (p.Asp105Ala) c.86A>C (p.Asp29Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.19951833A>G | CA370467536 | LPL | c.314A>G (p.Asp105Gly) c.86A>G (p.Asp29Gly) | |
| 8 | g.19951833A>T | CA370467537 | LPL | c.314A>T (p.Asp105Val) c.86A>T (p.Asp29Val) | |
| 8 | g.19951834C>A | CA370467538 | LPL | c.315C>A (p.Asp105Glu) c.87C>A (p.Asp29Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.19951834C= | CA1769097688 | LPL | c.315C= (p.Asp105=) c.87C= (p.Asp29=) | |
| 8 | g.19951834C>G | CA370467539 | LPL | c.315C>G (p.Asp105Glu) c.87C>G (p.Asp29Glu) | |
| 8 | g.19951834C>T | CA459678485 | LPL | c.315C>T (p.Asp105=) c.87C>T (p.Asp29=) | |
| 8 | g.19951835T>A | CA370467540 | LPL | c.316T>A (p.Ser106Thr) c.88T>A (p.Ser30Thr) c.316T>A | |
| 8 | g.19951835T>C | CA370467541 | LPL | c.316T>C (p.Ser106Pro) c.88T>C (p.Ser30Pro) c.316T>C | |
| 8 | g.19951835T>G | CA370467542 | LPL | c.316T>G (p.Ser106Ala) c.88T>G (p.Ser30Ala) c.316T>G | |
| 8 | g.19951835_19951836insTGATTGGAAA | CA2513007794 | LPL | c.316_317insTGATTGGAAA (p.Ser106LeufsTer?) c.88_89insTGATTGGAAA (p.Ser30LeufsTer?) c.316_317insTGATTGGAAA | |
| 8 | g.19951836C>A | CA370467543 | LPL | c.317C>A (p.Ser106Tyr) c.89C>A (p.Ser30Tyr) c.317C>A | |
| 8 | g.19951836C>G | CA370467545 | LPL | c.317C>G (p.Ser106Cys) c.89C>G (p.Ser30Cys) c.317C>G | |
| 8 | g.19951836C>T | CA370467544 | LPL | c.317C>T (p.Ser106Phe) c.89C>T (p.Ser30Phe) c.317C>T | gnomAD v4 |
| 8 | g.19951837C>A | CA459678486 | LPL | c.318C>A (p.Ser106=) c.90C>A (p.Ser30=) | |
| 8 | g.19951837C= | CA1769097692 | LPL | c.318C= (p.Ser106=) c.90C= (p.Ser30=) | |
| 8 | g.19951837C>G | CA459678487 | LPL | c.318C>G (p.Ser106=) c.90C>G (p.Ser30=) | |
| 8 | g.19951837C>T | CA459678488 | LPL | c.318C>T (p.Ser106=) c.90C>T (p.Ser30=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.19951838A>C | CA370467546 | LPL | c.319A>C (p.Asn107His) c.91A>C (p.Asn31His) | gnomAD v4 |
| 8 | g.19951838A>G | CA370467547 | LPL | c.319A>G (p.Asn107Asp) c.91A>G (p.Asn31Asp) | |
| 8 | g.19951838A>T | CA370467548 | LPL | c.319A>T (p.Asn107Tyr) c.91A>T (p.Asn31Tyr) | |
| 8 | g.19951839A= | CA1769097700 | LPL | c.320A= (p.Asn107=) c.92A= (p.Asn31=) | |
| 8 | g.19951839A>C | CA370467549 | LPL | c.320A>C (p.Asn107Thr) c.92A>C (p.Asn31Thr) | |
| 8 | g.19951839A>G | CA370467550 | LPL | c.320A>G (p.Asn107Ser) c.92A>G (p.Asn31Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.19951839A>T | CA370467551 | LPL | c.320A>T (p.Asn107Ile) c.92A>T (p.Asn31Ile) | |
| 8 | g.19951840T>A | CA370467552 | LPL | c.321T>A (p.Asn107Lys) c.93T>A (p.Asn31Lys) | |
| 8 | g.19951840T>C | CA459678489 | LPL | c.321T>C (p.Asn107=) c.93T>C (p.Asn31=) | ClinVar dbSNP gnomAD v4 |
| 8 | g.19951840T>G | CA370467553 | LPL | c.321T>G (p.Asn107Lys) c.93T>G (p.Asn31Lys) | |
| 8 | g.19951841G>A | CA370467554 | LPL | c.322G>A (p.Val108Ile) c.94G>A (p.Val32Ile) | dbSNP |
| 8 | g.19951841G>C | CA370467555 | LPL | c.322G>C (p.Val108Leu) c.94G>C (p.Val32Leu) | |
| 8 | g.19951841G= | CA1769097704 | LPL | c.322G= (p.Val108=) c.94G= (p.Val32=) | |
| 8 | g.19951841G>T | CA370467556 | LPL | c.322G>T (p.Val108Phe) c.94G>T (p.Val32Phe) | |
| 8 | g.19951842T>A | CA370467557 | LPL | c.323T>A (p.Val108Asp) c.95T>A (p.Val32Asp) | |
| 8 | g.19951842T>C | CA370467559 | LPL | c.323T>C (p.Val108Ala) c.95T>C (p.Val32Ala) | gnomAD v4 |
| 8 | g.19951842T>G | CA370467558 | LPL | c.323T>G (p.Val108Gly) c.95T>G (p.Val32Gly) | |
| 8 | g.19951843C>A | CA459678490 | LPL | c.324C>A (p.Val108=) c.96C>A (p.Val32=) | |
| 8 | g.19951843C>G | CA459678491 | LPL | c.324C>G (p.Val108=) c.96C>G (p.Val32=) | |
| 8 | g.19951843C>T | CA459678492 | LPL | c.324C>T (p.Val108=) c.96C>T (p.Val32=) | |
| 8 | g.19951844A= | CA1769097707 | LPL | c.325A= (p.Ile109=) c.97A= (p.Ile33=) | |
| 8 | g.19951844A>C | CA370467560 | LPL | c.325A>C (p.Ile109Leu) c.97A>C (p.Ile33Leu) | |
| 8 | g.19951844A>G | CA4655381 | LPL | c.325A>G (p.Ile109Val) c.97A>G (p.Ile33Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.19951844A>T | CA370467561 | LPL | c.325A>T (p.Ile109Phe) c.97A>T (p.Ile33Phe) | gnomAD v4 |
| 8 | g.19951845T>A | CA370467562 | LPL | c.326T>A (p.Ile109Asn) c.98T>A (p.Ile33Asn) | |
| 8 | g.19951845T>C | CA370467563 | LPL | c.326T>C (p.Ile109Thr) c.98T>C (p.Ile33Thr) | |
| 8 | g.19951845T>G | CA370467564 | LPL | c.326T>G (p.Ile109Ser) c.98T>G (p.Ile33Ser) | |
| 8 | g.19951846T>A | CA459678494 | LPL | c.327T>A (p.Ile109=) c.99T>A (p.Ile33=) | |
| 8 | g.19951846T>C | CA459678493 | LPL | c.327T>C (p.Ile109=) c.99T>C (p.Ile33=) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.19951846T>G | CA370467565 | LPL | c.327T>G (p.Ile109Met) c.99T>G (p.Ile33Met) | |
| 8 | g.19951846T= | CA1769097711 | LPL | c.327T= (p.Ile109=) c.99T= (p.Ile33=) | |
| 8 | g.19951846_19951849delinsTGTG | CA1769097713 | LPL | c.327_330delinsTGTG (p.Ile109=) c.99_102delinsTGTG (p.Ile33=) | |
| 8 | g.19951847G>A | CA370467566 | LPL | c.328G>A (p.Val110Met) c.100G>A (p.Val34Met) | |
| 8 | g.19951847G>C | CA370467567 | LPL | c.328G>C (p.Val110Leu) c.100G>C (p.Val34Leu) | |
| 8 | g.19951847G>T | CA370467568 | LPL | c.328G>T (p.Val110Leu) c.100G>T (p.Val34Leu) | |
| 8 | g.19951851_19951853del | CA580502397 | LPL | c.332_334del (p.Val111del) c.104_106del (p.Val35del) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.19951848T>A | CA370467569 | LPL | c.329T>A (p.Val110Glu) c.101T>A (p.Val34Glu) | dbSNP |
| 8 | g.19951848T>C | CA370467570 | LPL | c.329T>C (p.Val110Ala) c.101T>C (p.Val34Ala) | |
| 8 | g.19951848T>G | CA370467571 | LPL | c.329T>G (p.Val110Gly) c.101T>G (p.Val34Gly) | |
| 8 | g.19951848T= | CA1769097720 | LPL | c.329T= (p.Val110=) c.101T= (p.Val34=) | |
| 8 | g.19951849G>A | CA459678495 | LPL | c.330G>A (p.Val110=) c.102G>A (p.Val34=) | |
| 8 | g.19951849G>C | CA459678496 | LPL | c.330G>C (p.Val110=) c.102G>C (p.Val34=) | |
| 8 | g.19951849G>T | CA459678497 | LPL | c.330G>T (p.Val110=) c.102G>T (p.Val34=) | |
| 8 | g.19951850G>A | CA370467572 | LPL | c.331G>A (p.Val111Met) c.103G>A (p.Val35Met) | dbSNP |
| 8 | g.19951850G>C | CA370467573 | LPL | c.331G>C (p.Val111Leu) c.103G>C (p.Val35Leu) | |
| 8 | g.19951850G= | CA1769097725 | LPL | c.331G= (p.Val111=) c.103G= (p.Val35=) | |
| 8 | g.19951850G>T | CA370467574 | LPL | c.331G>T (p.Val111Leu) c.103G>T (p.Val35Leu) | |
| 8 | g.19951851T>A | CA370467575 | LPL | c.332T>A (p.Val111Glu) c.104T>A (p.Val35Glu) | |
| 8 | g.19951851T>C | CA370467577 | LPL | c.332T>C (p.Val111Ala) c.104T>C (p.Val35Ala) | |
| 8 | g.19951851T>G | CA370467576 | LPL | c.332T>G (p.Val111Gly) c.104T>G (p.Val35Gly) | |
| 8 | g.19951852G>A | CA4655382 | LPL | c.333G>A (p.Val111=) c.105G>A (p.Val35=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.19951852G>C | CA459678499 | LPL | c.333G>C (p.Val111=) c.105G>C (p.Val35=) | |
| 8 | g.19951852G= | CA1769097728 | LPL | c.333G= (p.Val111=) c.105G= (p.Val35=) | |
| 8 | g.19951852G>T | CA4655383 | LPL | c.333G>T (p.Val111=) c.105G>T (p.Val35=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.19951853dup | CA2695208920 | LPL | c.334dup (p.Asp112GlyfsTer?) c.106dup (p.Asp36GlyfsTer?) | |
| 8 | g.19951853G>A | CA370467578 | LPL | c.334G>A (p.Asp112Asn) c.106G>A (p.Asp36Asn) | dbSNP gnomAD v4 |
| 8 | g.19951853G>C | CA370467579 | LPL | c.334G>C (p.Asp112His) c.106G>C (p.Asp36His) | |
| 8 | g.19951853G= | CA1769097732 | LPL | c.334G= (p.Asp112=) c.106G= (p.Asp36=) | |
| 8 | g.19951853G>T | CA370467580 | LPL | c.334G>T (p.Asp112Tyr) c.106G>T (p.Asp36Tyr) |