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 |
|---|---|---|---|---|---|
| 1 | g.55039874C>A | CA340482654 | PCSK9 | c.37C>A (p.Leu13Met) c.394C>A (p.Leu132Met) | gnomAD v4 |
| 1 | g.55039874C>G | CA340482655 | PCSK9 | c.37C>G (p.Leu13Val) c.394C>G (p.Leu132Val) | |
| 1 | g.55039874C>T | CA417957256 | PCSK9 | c.37C>T (p.Leu13=) c.394C>T (p.Leu132=) | |
| 1 | g.55039875T>A | CA340482656 | PCSK9 | c.38T>A (p.Leu13Gln) c.395T>A (p.Leu132Gln) | |
| 1 | g.55039875T>C | CA340482657 | PCSK9 | c.38T>C (p.Leu13Pro) c.395T>C (p.Leu132Pro) | |
| 1 | g.55039875T>G | CA340482658 | PCSK9 | c.38T>G (p.Leu13Arg) c.395T>G (p.Leu132Arg) | |
| 1 | g.55039876G>A | CA417957257 | PCSK9 | c.39G>A (p.Leu13=) c.396G>A (p.Leu132=) | gnomAD v4 |
| 1 | g.55039876G>C | CA417957258 | PCSK9 | c.39G>C (p.Leu13=) c.396G>C (p.Leu132=) | |
| 1 | g.55039876G>T | CA417957259 | PCSK9 | c.39G>T (p.Leu13=) c.396G>T (p.Leu132=) | gnomAD v4 |
| 1 | g.55039876_55039879delinsGCCA | CA1167976396 | PCSK9 | c.39_42delinsGCCA (p.Leu13=) c.396_399delinsGCCA (p.Leu132=) | |
| 1 | g.55039877C>A | CA340482662 | PCSK9 | c.40C>A (p.Pro14Thr) c.397C>A (p.Pro133Thr) | |
| 1 | g.55039877C= | CA1167976397 | PCSK9 | c.40C= (p.Pro14=) c.397C= (p.Pro133=) | |
| 1 | g.55039877C>G | CA340482661 | PCSK9 | c.40C>G (p.Pro14Ala) c.397C>G (p.Pro133Ala) | |
| 1 | g.55039877C>T | CA340482660 | PCSK9 | c.40C>T (p.Pro14Ser) c.397C>T (p.Pro133Ser) | ClinVar dbSNP gnomAD v4 |
| 1 | g.55039878_55039880del | CA340482659 | PCSK9 | c.41_43del (p.Pro14del) c.398_400del (p.Pro133del) | dbSNP |
| 1 | g.55039878C>A | CA340482663 | PCSK9 | c.41C>A (p.Pro14Gln) c.398C>A (p.Pro133Gln) | |
| 1 | g.55039878C= | CA1143465931 | PCSK9 | c.41C= (p.Pro14=) c.398C= (p.Pro133=) | |
| 1 | g.55039878C>G | CA340482664 | PCSK9 | c.41C>G (p.Pro14Arg) c.398C>G (p.Pro133Arg) | |
| 1 | g.55039878C>T | CA22791822 | PCSK9 | c.41C>T (p.Pro14Leu) c.398C>T (p.Pro133Leu) | dbSNP gnomAD v4 |
| 1 | g.55039878_55039879insGTC | CA2586966665 | PCSK9 | c.41_42insGTC (p.Pro14_Leu15insSer) c.398_399insGTC (p.Pro133_Leu134insSer) | |
| 1 | g.55039878_55039881delinsCACT | CA1167976399 | PCSK9 | c.41_44delinsCACT (p.Pro14=) c.398_401delinsCACT (p.Pro133=) | |
| 1 | g.55039878_55039887delinsCACTGCTGCT | CA1167976398 | PCSK9 | c.41_50delinsCACTGCTGCT (p.Pro14=) c.398_407delinsCACTGCTGCT (p.Pro133=) | |
| 1 | g.55039879A= | CA1167976400 | PCSK9 | c.42A= (p.Pro14=) c.399A= (p.Pro133=) | |
| 1 | g.55039879A>C | CA417957265 | PCSK9 | c.42A>C (p.Pro14=) c.399A>C (p.Pro133=) | gnomAD v4 |
| 1 | g.55039879A>G | CA417957264 | PCSK9 | c.42A>G (p.Pro14=) c.399A>G (p.Pro133=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.55039879A>T | CA417957263 | PCSK9 | c.42A>T (p.Pro14=) c.399A>T (p.Pro133=) | |
| 1 | g.55039879_55039881del | CA737023103 | PCSK9 | c.42_44del (p.Leu15del) c.399_401del (p.Leu134del) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.55039879_55039881dup | CA2695882064 | PCSK9 | c.42_44dup (p.Leu15_Leu16insLeu) c.399_401dup (p.Leu134_Leu135insLeu) | dbSNP |
| 1 | g.55039879_55039887del | CA913187506 | PCSK9 | c.42_50del (p.Leu15_Leu17del) c.399_407del (p.Leu134_Leu136del) | ClinVar dbSNP gnomAD v4 |
| 1 | g.55039879_55039888delinsACTGCTGCTG | CA1167976401 | PCSK9 | c.42_51delinsACTGCTGCTG (p.Pro14=) c.399_408delinsACTGCTGCTG (p.Pro133=) | |
| 1 | g.55039879_55039880insTG | CA645372371 | PCSK9 | c.42_43insTG (p.Leu15CysfsTer30) c.399_400insTG (p.Leu134CysfsTer30) | ClinVar dbSNP |
| 1 | g.55039879_55039880insATGCTG | CA523275408 | PCSK9 | c.42_43insATGCTG (p.Pro14_Leu15insMetLeu) c.399_400insATGCTG (p.Pro133_Leu134insMetLeu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.55039880C>A | CA340482665 | PCSK9 | c.43C>A (p.Leu15Met) c.400C>A (p.Leu134Met) | gnomAD v4 |
| 1 | g.55039880C= | CA1167976402 | PCSK9 | c.43C= (p.Leu15=) c.400C= (p.Leu134=) | |
| 1 | g.55039880C>G | CA340482666 | PCSK9 | c.43C>G (p.Leu15Val) c.400C>G (p.Leu134Val) | |
| 1 | g.55039880C>T | CA417957277 | PCSK9 | c.43C>T (p.Leu15=) c.400C>T (p.Leu134=) | dbSNP gnomAD v2 |
| 1 | g.55039880_55039902delinsCTGCTGCTGCTGCTGCTGCTGCT | CA1140578550 | PCSK9 | c.43_65delinsCTGCTGCTGCTGCTGCTGCTGCT (p.Leu15=) c.400_422delinsCTGCTGCTGCTGCTGCTGCTGCT (p.Leu134=) | |
| 1 | g.55039900_55039902dup | CA871469 | PCSK9 | c.63_65dup (p.Leu22_Leu23insLeu) c.420_422dup (p.Leu141_Leu142insLeu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
| 1 | g.55039897_55039902dup | CA871471 | PCSK9 | c.60_65dup (p.Leu22_Leu23insLeuLeu) c.417_422dup (p.Leu141_Leu142insLeuLeu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.55039894_55039902dup | CA871472 | PCSK9 | c.57_65dup (p.Leu22_Leu23insLeuLeuLeu) c.414_422dup (p.Leu141_Leu142insLeuLeuLeu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.55039891_55039902dup | CA871470 | PCSK9 | c.54_65dup (p.Leu22_Leu23insLeuLeuLeuLeu) c.411_422dup (p.Leu141_Leu142insLeuLeuLeuLeu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.55039888_55039902dup | CA916180833 | PCSK9 | c.51_65dup (p.Leu22_Leu23insLeuLeuLeuLeuLeu) c.408_422dup (p.Leu141_Leu142insLeuLeuLeuLeuLeu) | dbSNP |
| 1 | g.55039900_55039902del | CA871468 | PCSK9 | c.63_65del (p.Leu22del) c.420_422del (p.Leu141del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.55039897_55039902del | CA871473 | PCSK9 | c.60_65del (p.Leu21_Leu22del) c.417_422del (p.Leu140_Leu141del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.55039894_55039902del | CA417957276 | PCSK9 | c.57_65del (p.Leu20_Leu22del) c.414_422del (p.Leu139_Leu141del) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.55039891_55039902del | CA2743685337 | PCSK9 | c.54_65del (p.Leu19_Leu22del) c.411_422del (p.Leu138_Leu141del) | |
| 1 | g.55039880_55039881insCTG | CA645517246 | PCSK9 | c.43_44insCTG (p.Leu15delinsProVal) c.400_401insCTG (p.Leu134delinsProVal) | COSMIC |
| 1 | g.55039880_55039881insCTGCTG | CA1139655483 | PCSK9 | c.43_44insCTGCTG (p.Leu15delinsProAlaVal) c.400_401insCTGCTG (p.Leu134delinsProAlaVal) | |
| 1 | g.55039881T>A | CA340482668 | PCSK9 | c.44T>A (p.Leu15Gln) c.401T>A (p.Leu134Gln) | |
| 1 | g.55039881T>C | CA340482669 | PCSK9 | c.44T>C (p.Leu15Pro) c.401T>C (p.Leu134Pro) | |
| 1 | g.55039881T>G | CA340482667 | PCSK9 | c.44T>G (p.Leu15Arg) c.401T>G (p.Leu134Arg) | |
| 1 | g.55039882_55039883insGTG | CA737023214 | PCSK9 | c.45_46insGTG (p.Leu15_Leu16insVal) c.402_403insGTG (p.Leu134_Leu135insVal) | ClinVar dbSNP |
| 1 | g.55039882_55039883insTTG | CA2740140191 | PCSK9 | c.45_46insTTG (p.Leu15_Leu16insLeu) c.402_403insTTG (p.Leu134_Leu135insLeu) | |
| 1 | g.55039882G>A | CA417957281 | PCSK9 | c.45G>A (p.Leu15=) c.402G>A (p.Leu134=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.55039882G>C | CA417957283 | PCSK9 | c.45G>C (p.Leu15=) c.402G>C (p.Leu134=) | |
| 1 | g.55039882G= | CA1167976403 | PCSK9 | c.45G= (p.Leu15=) c.402G= (p.Leu134=) | |
| 1 | g.55039882G>T | CA417957282 | PCSK9 | c.45G>T (p.Leu15=) c.402G>T (p.Leu134=) | gnomAD v4 |
| 1 | g.55039883_55039884insAGC | CA2695882238 | PCSK9 | c.46_47insAGC (p.Leu15_Leu16insGln) c.403_404insAGC (p.Leu134_Leu135insGln) | dbSNP |
| 1 | g.55039883C>A | CA340482671 | PCSK9 | c.46C>A (p.Leu16Met) c.403C>A (p.Leu135Met) | |
| 1 | g.55039883C>G | CA340482670 | PCSK9 | c.46C>G (p.Leu16Val) c.403C>G (p.Leu135Val) | |
| 1 | g.55039883C>T | CA417957284 | PCSK9 | c.46C>T (p.Leu16=) c.403C>T (p.Leu135=) | gnomAD v4 |
| 1 | g.55039884T>A | CA340482672 | PCSK9 | c.47T>A (p.Leu16Gln) c.404T>A (p.Leu135Gln) | |
| 1 | g.55039884T>C | CA340482673 | PCSK9 | c.47T>C (p.Leu16Pro) c.404T>C (p.Leu135Pro) | |
| 1 | g.55039884T>G | CA340482674 | PCSK9 | c.47T>G (p.Leu16Arg) c.404T>G (p.Leu135Arg) | |
| 1 | g.55039885_55039886insATG | CA2695882325 | PCSK9 | c.48_49insATG (p.Leu16_Leu17insMet) c.405_406insATG (p.Leu135_Leu136insMet) | dbSNP |
| 1 | g.55039885G>A | CA417957287 | PCSK9 | c.48G>A (p.Leu16=) c.405G>A (p.Leu135=) | gnomAD v4 |
| 1 | g.55039885G>C | CA417957286 | PCSK9 | c.48G>C (p.Leu16=) c.405G>C (p.Leu135=) | |
| 1 | g.55039885G>T | CA417957285 | PCSK9 | c.48G>T (p.Leu16=) c.405G>T (p.Leu135=) | gnomAD v4 |
| 1 | g.55039886C>A | CA340482675 | PCSK9 | c.49C>A (p.Leu17Met) c.406C>A (p.Leu136Met) | |
| 1 | g.55039886C>G | CA340482676 | PCSK9 | c.49C>G (p.Leu17Val) c.406C>G (p.Leu136Val) | |
| 1 | g.55039886C>T | CA417957288 | PCSK9 | c.49C>T (p.Leu17=) c.406C>T (p.Leu136=) | |
| 1 | g.55039887_55039888insTCT | CA2695882327 | PCSK9 | c.50_51insTCT (p.Leu17_Leu18insLeu) c.407_408insTCT (p.Leu136_Leu137insLeu) | dbSNP |
| 1 | g.55039887T>A | CA340482677 | PCSK9 | c.50T>A (p.Leu17Gln) c.407T>A (p.Leu136Gln) | |
| 1 | g.55039887T>C | CA340482678 | PCSK9 | c.50T>C (p.Leu17Pro) c.407T>C (p.Leu136Pro) | |
| 1 | g.55039887T>G | CA340482679 | PCSK9 | c.50T>G (p.Leu17Arg) c.407T>G (p.Leu136Arg) | |
| 1 | g.55039887T= | CA1167976404 | PCSK9 | c.50T= (p.Leu17=) c.407T= (p.Leu136=) | |
| 1 | g.55039888_55039889insATG | CA2645837237 | PCSK9 | c.51_52insATG (p.Leu17_Leu18insMet) c.408_409insATG (p.Leu136_Leu137insMet) | dbSNP gnomAD v4 |
| 1 | g.55039888_55039889insTTG | CA2645837236 | PCSK9 | c.51_52insTTG (p.Leu17_Leu18insLeu) c.408_409insTTG (p.Leu136_Leu137insLeu) | gnomAD v4 |
| 1 | g.55039888G>A | CA417957291 | PCSK9 | c.51G>A (p.Leu17=) c.408G>A (p.Leu136=) | dbSNP |
| 1 | g.55039888G>C | CA417957292 | PCSK9 | c.51G>C (p.Leu17=) c.408G>C (p.Leu136=) | |
| 1 | g.55039888G>T | CA417957293 | PCSK9 | c.51G>T (p.Leu17=) c.408G>T (p.Leu136=) | |
| 1 | g.55039888_55039889delinsGC | CA1148230376 | PCSK9 | c.51_52delinsGC (p.Leu17=) c.408_409delinsGC (p.Leu136=) | |
| 1 | g.55039889_55039890insCGC | CA2573132427 | PCSK9 | c.52_53insCGC (p.Leu17_Leu18insPro) c.409_410insCGC (p.Leu136_Leu137insPro) | ClinVar dbSNP |
| 1 | g.55039889_55039890insGGC | CA042613 | PCSK9 | c.52_53insGGC (p.Leu17_Leu18insArg) c.409_410insGGC (p.Leu136_Leu137insArg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.55039889C>A | CA340482680 | PCSK9 | c.52C>A (p.Leu18Met) c.409C>A (p.Leu137Met) | dbSNP |
| 1 | g.55039889C= | CA1143919355 | PCSK9 | c.52C= (p.Leu18=) c.409C= (p.Leu137=) | |
| 1 | g.55039889C>G | CA340482681 | PCSK9 | c.52C>G (p.Leu18Val) c.409C>G (p.Leu137Val) | |
| 1 | g.55039889C>T | CA22791904 | PCSK9 | c.52C>T (p.Leu18=) c.409C>T (p.Leu137=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.55039890_55039891insCCT | CA2695882440 | PCSK9 | c.53_54insCCT (p.Leu18_Leu19insLeu) c.410_411insCCT (p.Leu137_Leu138insLeu) | dbSNP |
| 1 | g.55039890_55039891insTCT | CA2695882431 | PCSK9 | c.53_54insTCT (p.Leu18_Leu19insLeu) c.410_411insTCT (p.Leu137_Leu138insLeu) | dbSNP |
| 1 | g.55039890T>A | CA340482683 | PCSK9 | c.53T>A (p.Leu18Gln) c.410T>A (p.Leu137Gln) | |
| 1 | g.55039890T>C | CA340482684 | PCSK9 | c.53T>C (p.Leu18Pro) c.410T>C (p.Leu137Pro) | |
| 1 | g.55039890T>G | CA340482682 | PCSK9 | c.53T>G (p.Leu18Arg) c.410T>G (p.Leu137Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.55039890T= | CA1167976405 | PCSK9 | c.53T= (p.Leu18=) c.410T= (p.Leu137=) | |
| 1 | g.55039891_55039892insTTG | CA2695882464 | PCSK9 | c.54_55insTTG (p.Leu18_Leu19insLeu) c.411_412insTTG (p.Leu137_Leu138insLeu) | dbSNP |
| 1 | g.55039891G>A | CA417957295 | PCSK9 | c.54G>A (p.Leu18=) c.411G>A (p.Leu137=) | gnomAD v4 |
| 1 | g.55039891G>C | CA417957296 | PCSK9 | c.54G>C (p.Leu18=) c.411G>C (p.Leu137=) | |
| 1 | g.55039891G= | CA1167976406 | PCSK9 | c.54G= (p.Leu18=) c.411G= (p.Leu137=) | |
| 1 | g.55039891G>T | CA043259 | PCSK9 | c.54G>T (p.Leu18=) c.411G>T (p.Leu137=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.55039892_55039893insGGC | CA2695882569 | PCSK9 | c.55_56insGGC (p.Leu18_Leu19insArg) c.412_413insGGC (p.Leu137_Leu138insArg) | dbSNP |
| 1 | g.55039892C>A | CA340482686 | PCSK9 | c.55C>A (p.Leu19Met) c.412C>A (p.Leu138Met) | |
| 1 | g.55039892C>G | CA340482685 | PCSK9 | c.55C>G (p.Leu19Val) c.412C>G (p.Leu138Val) | |
| 1 | g.55039892C>T | CA417957297 | PCSK9 | c.55C>T (p.Leu19=) c.412C>T (p.Leu138=) | gnomAD v4 |
| 1 | g.55039893_55039894insACT | CA22791911 | PCSK9 | c.56_57insACT (p.Leu19_Leu20insLeu) c.413_414insACT (p.Leu138_Leu139insLeu) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.55039893_55039894insCCT | CA2695831120 | PCSK9 | c.56_57insCCT (p.Leu19_Leu20insLeu) c.413_414insCCT (p.Leu138_Leu139insLeu) | dbSNP |
| 1 | g.55039893T>A | CA340482687 | PCSK9 | c.56T>A (p.Leu19Gln) c.413T>A (p.Leu138Gln) | |
| 1 | g.55039893T>C | CA340482688 | PCSK9 | c.56T>C (p.Leu19Pro) c.413T>C (p.Leu138Pro) | |
| 1 | g.55039893T>G | CA340482689 | PCSK9 | c.56T>G (p.Leu19Arg) c.413T>G (p.Leu138Arg) | gnomAD v4 |
| 1 | g.55039894_55039895insATG | CA2695882572 | PCSK9 | c.57_58insATG (p.Leu19_Leu20insMet) c.414_415insATG (p.Leu138_Leu139insMet) | dbSNP |
| 1 | g.55039894G>A | CA417957300 | PCSK9 | c.57G>A (p.Leu19=) c.414G>A (p.Leu138=) | |
| 1 | g.55039894G>C | CA417957298 | PCSK9 | c.57G>C (p.Leu19=) c.414G>C (p.Leu138=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.55039894G= | CA1167976407 | PCSK9 | c.57G= (p.Leu19=) c.414G= (p.Leu138=) | |
| 1 | g.55039894G>T | CA417957299 | PCSK9 | c.57G>T (p.Leu19=) c.414G>T (p.Leu138=) | |
| 1 | g.55039895_55039896insCGC | CA2695882641 | PCSK9 | c.58_59insCGC (p.Leu19_Leu20insPro) c.415_416insCGC (p.Leu138_Leu139insPro) | dbSNP |
| 1 | g.55039895C>A | CA340482691 | PCSK9 | c.58C>A (p.Leu20Met) c.415C>A (p.Leu139Met) | |
| 1 | g.55039895C>G | CA340482690 | PCSK9 | c.58C>G (p.Leu20Val) c.415C>G (p.Leu139Val) | |
| 1 | g.55039895C>T | CA417957302 | PCSK9 | c.58C>T (p.Leu20=) c.415C>T (p.Leu139=) | |
| 1 | g.55039896_55039897insCCT | CA2645837262 | PCSK9 | c.59_60insCCT (p.Leu20_Leu21insLeu) c.416_417insCCT (p.Leu139_Leu140insLeu) | gnomAD v4 |
| 1 | g.55039898_55039906dup | CA2574381078 | PCSK9 | c.61_69dup (p.Leu23_Gly24insLeuLeuLeu) c.418_426dup (p.Leu142_Gly143insLeuLeuLeu) | ClinVar gnomAD v4 |
| 1 | g.55039896T>A | CA340482693 | PCSK9 | c.59T>A (p.Leu20Gln) c.416T>A (p.Leu139Gln) | |
| 1 | g.55039896T>C | CA340482692 | PCSK9 | c.59T>C (p.Leu20Pro) c.416T>C (p.Leu139Pro) | |
| 1 | g.55039896T>G | CA340482694 | PCSK9 | c.59T>G (p.Leu20Arg) c.416T>G (p.Leu139Arg) | |
| 1 | g.55039897_55039898insTTG | CA2695882651 | PCSK9 | c.60_61insTTG (p.Leu20_Leu21insLeu) c.417_418insTTG (p.Leu139_Leu140insLeu) | dbSNP |
| 1 | g.55039897G>A | CA417957304 | PCSK9 | c.60G>A (p.Leu20=) c.417G>A (p.Leu139=) | dbSNP gnomAD v4 |
| 1 | g.55039897G>C | CA417957305 | PCSK9 | c.60G>C (p.Leu20=) c.417G>C (p.Leu139=) | |
| 1 | g.55039897G= | CA1167976408 | PCSK9 | c.60G= (p.Leu20=) c.417G= (p.Leu139=) | |
| 1 | g.55039897G>T | CA417957303 | PCSK9 | c.60G>T (p.Leu20=) c.417G>T (p.Leu139=) | |
| 1 | g.55039898_55039899insCGC | CA2695882671 | PCSK9 | c.61_62insCGC (p.Leu20_Leu21insPro) c.418_419insCGC (p.Leu139_Leu140insPro) | dbSNP |
| 1 | g.55039898C>A | CA340482695 | PCSK9 | c.61C>A (p.Leu21Met) c.418C>A (p.Leu140Met) | |
| 1 | g.55039898C= | CA1167976409 | PCSK9 | c.61C= (p.Leu21=) c.418C= (p.Leu140=) | |
| 1 | g.55039898C>G | CA340482696 | PCSK9 | c.61C>G (p.Leu21Val) c.418C>G (p.Leu140Val) | |
| 1 | g.55039898C>T | CA417957306 | PCSK9 | c.61C>T (p.Leu21=) c.418C>T (p.Leu140=) | dbSNP gnomAD v4 |
| 1 | g.55039901_55039906dup | CA043381 | PCSK9 | c.64_69dup (p.Leu23_Gly24insLeuLeu) c.421_426dup (p.Leu142_Gly143insLeuLeu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.55039899T>A | CA340482697 | PCSK9 | c.62T>A (p.Leu21Gln) c.419T>A (p.Leu140Gln) | |
| 1 | g.55039899T>C | CA340482698 | PCSK9 | c.62T>C (p.Leu21Pro) c.419T>C (p.Leu140Pro) | |
| 1 | g.55039899T>G | CA340482699 | PCSK9 | c.62T>G (p.Leu21Arg) c.419T>G (p.Leu140Arg) | |
| 1 | g.55039900G>A | CA417957308 | PCSK9 | c.63G>A (p.Leu21=) c.420G>A (p.Leu140=) | dbSNP gnomAD v4 |
| 1 | g.55039900G>C | CA417957310 | PCSK9 | c.63G>C (p.Leu21=) c.420G>C (p.Leu140=) | |
| 1 | g.55039900G= | CA1167976410 | PCSK9 | c.63G= (p.Leu21=) c.420G= (p.Leu140=) | |
| 1 | g.55039900G>T | CA417957309 | PCSK9 | c.63G>T (p.Leu21=) c.420G>T (p.Leu140=) | gnomAD v4 |
| 1 | g.55039901C>A | CA340482700 | PCSK9 | c.64C>A (p.Leu22Ile) c.421C>A (p.Leu141Ile) | gnomAD v4 |
| 1 | g.55039901C= | CA1167976412 | PCSK9 | c.64C= (p.Leu22=) c.421C= (p.Leu141=) | |
| 1 | g.55039901C>G | CA340482702 | PCSK9 | c.64C>G (p.Leu22Val) c.421C>G (p.Leu141Val) | |
| 1 | g.55039901C>T | CA340482701 | PCSK9 | c.64C>T (p.Leu22Phe) c.421C>T (p.Leu141Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.55039902_55039903insACT | CA523275409 | PCSK9 | c.65_66insACT (p.Leu22_Leu23insLeu) c.422_423insACT (p.Leu141_Leu142insLeu) | dbSNP gnomAD v2 |
| 1 | g.55039902_55039903insTCT | CA2695840625 | PCSK9 | c.65_66insTCT (p.Leu22_Leu23insLeu) c.422_423insTCT (p.Leu141_Leu142insLeu) | dbSNP |
| 1 | g.55039902_55039903insGCTCCT | CA737023242 | PCSK9 | c.65_66insGCTCCT (p.Leu22_Leu23insLeuLeu) c.422_423insGCTCCT (p.Leu141_Leu142insLeuLeu) | ClinVar dbSNP |
| 1 | g.55039902_55039903insGCTGCTACTACT | CA2645837275 | PCSK9 | c.65_66insGCTGCTACTACT (p.Leu22_Leu23insLeuLeuLeuLeu) c.422_423insGCTGCTACTACT (p.Leu141_Leu142insLeuLeuLeuLeu) | gnomAD v4 |
| 1 | g.55039902_55039903insGCTGCTGCTACTACT | CA1167976411 | PCSK9 | c.65_66insGCTGCTGCTACTACT (p.Leu22_Leu23insLeuLeuLeuLeuLeu) c.422_423insGCTGCTGCTACTACT (p.Leu141_Leu142insLeuLeuLeuLeuLeu) | dbSNP |
| 1 | g.55039902T>A | CA340482703 | PCSK9 | c.65T>A (p.Leu22His) c.422T>A (p.Leu141His) | |
| 1 | g.55039902T>C | CA340482704 | PCSK9 | c.65T>C (p.Leu22Pro) c.422T>C (p.Leu141Pro) | ClinVar dbSNP gnomAD v4 |
| 1 | g.55039902T>G | CA340482705 | PCSK9 | c.65T>G (p.Leu22Arg) c.422T>G (p.Leu141Arg) | |
| 1 | g.55039902T= | CA1167976413 | PCSK9 | c.65T= (p.Leu22=) c.422T= (p.Leu141=) | |
| 1 | g.55039902_55039903insG | CA2586966666 | PCSK9 | c.65_66insG (p.Leu23ProfsTer?) c.422_423insG (p.Leu142ProfsTer?) | gnomAD v4 |
| 1 | g.55039902_55039903insGC | CA2574381079 | PCSK9 | c.65_66insGC (p.Leu23ProfsTer22) c.422_423insGC (p.Leu142ProfsTer22) | |
| 1 | g.55039902_55039903insGCA | CA2695882756 | PCSK9 | c.65_66insGCA (p.Leu22_Leu23insHis) c.422_423insGCA (p.Leu141_Leu142insHis) | dbSNP |
| 1 | g.55039902_55039903insGCC | CA2580063086 | PCSK9 | c.65_66insGCC (p.Leu22_Leu23insPro) c.422_423insGCC (p.Leu141_Leu142insPro) | ClinVar dbSNP |
| 1 | g.55039903C>A | CA417957311 | PCSK9 | c.66C>A (p.Leu22=) c.423C>A (p.Leu141=) | gnomAD v4 |
| 1 | g.55039903C= | CA1167976414 | PCSK9 | c.66C= (p.Leu22=) c.423C= (p.Leu141=) | |
| 1 | g.55039903C>G | CA417957312 | PCSK9 | c.66C>G (p.Leu22=) c.423C>G (p.Leu141=) | dbSNP |
| 1 | g.55039903C>T | CA22791936 | PCSK9 | c.66C>T (p.Leu22=) c.423C>T (p.Leu141=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.55039903_55039904insT | CA2645837289 | PCSK9 | c.66_67insT (p.Leu23SerfsTer?) c.423_424insT (p.Leu142SerfsTer?) | gnomAD v4 |
| 1 | g.55039903_55039904insTT | CA2645837290 | PCSK9 | c.66_67insTT (p.Leu23PhefsTer22) c.423_424insTT (p.Leu142PhefsTer22) | gnomAD v4 |
| 1 | g.55039904C>A | CA340482706 | PCSK9 | c.67C>A (p.Leu23Met) c.424C>A (p.Leu142Met) | |
| 1 | g.55039904C= | CA1167976415 | PCSK9 | c.67C= (p.Leu23=) c.424C= (p.Leu142=) | |
| 1 | g.55039904C>G | CA340482707 | PCSK9 | c.67C>G (p.Leu23Val) c.424C>G (p.Leu142Val) | |
| 1 | g.55039904C>T | CA22791945 | PCSK9 | c.67C>T (p.Leu23=) c.424C>T (p.Leu142=) | dbSNP |
| 1 | g.55039904_55039929del | CA2697552434 | PCSK9 | c.67_92del (p.Leu23GlyfsTer?) c.424_449del (p.Leu142GlyfsTer?) | ClinVar |
| 1 | g.55039905T>A | CA340482709 | PCSK9 | c.68T>A (p.Leu23Gln) c.425T>A (p.Leu142Gln) | |
| 1 | g.55039905T>C | CA340482710 | PCSK9 | c.68T>C (p.Leu23Pro) c.425T>C (p.Leu142Pro) | gnomAD v4 |
| 1 | g.55039905T>G | CA340482708 | PCSK9 | c.68T>G (p.Leu23Arg) c.425T>G (p.Leu142Arg) | dbSNP gnomAD v4 |
| 1 | g.55039905T= | CA1167976416 | PCSK9 | c.68T= (p.Leu23=) c.425T= (p.Leu142=) | |
| 1 | g.55039906G>A | CA417957318 | PCSK9 | c.69G>A (p.Leu23=) c.426G>A (p.Leu142=) | |
| 1 | g.55039906G>C | CA417957316 | PCSK9 | c.69G>C (p.Leu23=) c.426G>C (p.Leu142=) | |
| 1 | g.55039906G>T | CA417957317 | PCSK9 | c.69G>T (p.Leu23=) c.426G>T (p.Leu142=) | gnomAD v4 |
| 1 | g.55039907G>A | CA340482711 | PCSK9 | c.70G>A (p.Gly24Ser) c.427G>A (p.Gly143Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.55039907G>C | CA340482712 | PCSK9 | c.70G>C (p.Gly24Arg) c.427G>C (p.Gly143Arg) | |
| 1 | g.55039907G= | CA1167976417 | PCSK9 | c.70G= (p.Gly24=) c.427G= (p.Gly143=) | |
| 1 | g.55039907G>T | CA340482713 | PCSK9 | c.70G>T (p.Gly24Cys) c.427G>T (p.Gly143Cys) | gnomAD v4 |
| 1 | g.55039908G>A | CA340482714 | PCSK9 | c.71G>A (p.Gly24Asp) c.428G>A (p.Gly143Asp) | gnomAD v4 |
| 1 | g.55039908G>C | CA340482715 | PCSK9 | c.71G>C (p.Gly24Ala) c.428G>C (p.Gly143Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.55039908G= | CA1167976418 | PCSK9 | c.71G= (p.Gly24=) c.428G= (p.Gly143=) | |
| 1 | g.55039908G>T | CA340482716 | PCSK9 | c.71G>T (p.Gly24Val) c.428G>T (p.Gly143Val) | |
| 1 | g.55039909T>A | CA417957319 | PCSK9 | c.72T>A (p.Gly24=) c.429T>A (p.Gly143=) | |
| 1 | g.55039909T>C | CA417957320 | PCSK9 | c.72T>C (p.Gly24=) c.429T>C (p.Gly143=) | dbSNP |
| 1 | g.55039909T>G | CA417957321 | PCSK9 | c.72T>G (p.Gly24=) c.429T>G (p.Gly143=) | gnomAD v4 |
| 1 | g.55039909_55039910delinsTC | CA1167976419 | PCSK9 | c.72_73delinsTC (p.Gly24=) c.429_430delinsTC (p.Gly143=) | |
| 1 | g.55039910C>A | CA340482718 | PCSK9 | c.73C>A (p.Pro25Thr) c.430C>A (p.Pro144Thr) | gnomAD v4 |
| 1 | g.55039910C= | CA1167976420 | PCSK9 | c.73C= (p.Pro25=) c.430C= (p.Pro144=) | |
| 1 | g.55039910C>G | CA340482717 | PCSK9 | c.73C>G (p.Pro25Ala) c.430C>G (p.Pro144Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.55039910C>T | CA044203 | PCSK9 | c.73C>T (p.Pro25Ser) c.430C>T (p.Pro144Ser) | dbSNP ExAC gnomAD v4 |
| 1 | g.55039912del | CA044217 | PCSK9 | c.75del (p.Ala26ArgfsTer18) c.432del (p.Ala145ArgfsTer18) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.55039911C>A | CA340482719 | PCSK9 | c.74C>A (p.Pro25His) c.431C>A (p.Pro144His) | |
| 1 | g.55039911C= | CA1167976421 | PCSK9 | c.74C= (p.Pro25=) c.431C= (p.Pro144=) | |
| 1 | g.55039911C>G | CA340482720 | PCSK9 | c.74C>G (p.Pro25Arg) c.431C>G (p.Pro144Arg) | |
| 1 | g.55039911C>T | CA340482721 | PCSK9 | c.74C>T (p.Pro25Leu) c.431C>T (p.Pro144Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.55039912C>A | CA417957323 | PCSK9 | c.75C>A (p.Pro25=) c.432C>A (p.Pro144=) | gnomAD v4 |
| 1 | g.55039912C= | CA1144151483 | PCSK9 | c.75C= (p.Pro25=) c.432C= (p.Pro144=) | |
| 1 | g.55039912C>G | CA417957324 | PCSK9 | c.75C>G (p.Pro25=) c.432C>G (p.Pro144=) | |
| 1 | g.55039912C>T | CA044370 | PCSK9 | c.75C>T (p.Pro25=) c.432C>T (p.Pro144=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.55039913G>A | CA340482722 | PCSK9 | c.76G>A (p.Ala26Thr) c.433G>A (p.Ala145Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.55039913G>C | CA340482724 | PCSK9 | c.76G>C (p.Ala26Pro) c.433G>C (p.Ala145Pro) | gnomAD v4 |
| 1 | g.55039913G= | CA1167976422 | PCSK9 | c.76G= (p.Ala26=) c.433G= (p.Ala145=) | |
| 1 | g.55039913G>T | CA340482723 | PCSK9 | c.76G>T (p.Ala26Ser) c.433G>T (p.Ala145Ser) | gnomAD v4 |
| 1 | g.55039914C>A | CA340482725 | PCSK9 | c.77C>A (p.Ala26Glu) c.434C>A (p.Ala145Glu) | gnomAD v4 |
| 1 | g.55039914C= | CA1167976423 | PCSK9 | c.77C= (p.Ala26=) c.434C= (p.Ala145=) | |
| 1 | g.55039914C>G | CA340482726 | PCSK9 | c.77C>G (p.Ala26Gly) c.434C>G (p.Ala145Gly) | |
| 1 | g.55039914C>T | CA340482727 | PCSK9 | c.77C>T (p.Ala26Val) c.434C>T (p.Ala145Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 1 | g.55039915G>A | CA417957328 | PCSK9 | c.78G>A (p.Ala26=) c.435G>A (p.Ala145=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.55039915G>C | CA417957330 | PCSK9 | c.78G>C (p.Ala26=) c.435G>C (p.Ala145=) | |
| 1 | g.55039915G= | CA1167976424 | PCSK9 | c.78G= (p.Ala26=) c.435G= (p.Ala145=) | |
| 1 | g.55039915G>T | CA417957329 | PCSK9 | c.78G>T (p.Ala26=) c.435G>T (p.Ala145=) | gnomAD v4 |
| 1 | g.55039917del | CA2586966667 | PCSK9 | c.80del (p.Gly27AlafsTer17) c.437del (p.Gly146AlafsTer17) | |
| 1 | g.55039916_55039917del | CA2645837338 | PCSK9 | c.79_80del (p.Gly27ArgfsTer?) c.436_437del (p.Gly146ArgfsTer?) | gnomAD v4 |
| 1 | g.55039916G>A | CA340482728 | PCSK9 | c.79G>A (p.Gly27Ser) c.436G>A (p.Gly146Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.55039916G>C | CA340482729 | PCSK9 | c.79G>C (p.Gly27Arg) c.436G>C (p.Gly146Arg) | |
| 1 | g.55039916G= | CA1167976425 | PCSK9 | c.79G= (p.Gly27=) c.436G= (p.Gly146=) | |
| 1 | g.55039916G>T | CA340482730 | PCSK9 | c.79G>T (p.Gly27Cys) c.436G>T (p.Gly146Cys) | gnomAD v4 |
| 1 | g.55039917G>A | CA340482731 | PCSK9 | c.80G>A (p.Gly27Asp) c.437G>A (p.Gly146Asp) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.55039917G>C | CA340482732 | PCSK9 | c.80G>C (p.Gly27Ala) c.437G>C (p.Gly146Ala) | ClinVar dbSNP |
| 1 | g.55039917G= | CA1167976426 | PCSK9 | c.80G= (p.Gly27=) c.437G= (p.Gly146=) | |
| 1 | g.55039917G>T | CA340482733 | PCSK9 | c.80G>T (p.Gly27Val) c.437G>T (p.Gly146Val) | dbSNP gnomAD v4 |
| 1 | g.55039918C>A | CA417957332 | PCSK9 | c.81C>A (p.Gly27=) c.438C>A (p.Gly146=) | gnomAD v4 |
| 1 | g.55039918C= | CA1167976427 | PCSK9 | c.81C= (p.Gly27=) c.438C= (p.Gly146=) | |
| 1 | g.55039918C>G | CA417957333 | PCSK9 | c.81C>G (p.Gly27=) c.438C>G (p.Gly146=) | |
| 1 | g.55039918C>T | CA417957331 | PCSK9 | c.81C>T (p.Gly27=) c.438C>T (p.Gly146=) | ClinVar dbSNP gnomAD v4 |
| 1 | g.55039919G>A | CA044814 | PCSK9 | c.82G>A (p.Ala28Thr) c.439G>A (p.Ala147Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.55039919G>C | CA340482734 | PCSK9 | c.82G>C (p.Ala28Pro) c.439G>C (p.Ala147Pro) | |
| 1 | g.55039919G= | CA1145805764 | PCSK9 | c.82G= (p.Ala28=) c.439G= (p.Ala147=) | |
| 1 | g.55039919G>T | CA340482735 | PCSK9 | c.82G>T (p.Ala28Ser) c.439G>T (p.Ala147Ser) | gnomAD v4 |
| 1 | g.55039919_55039920delinsGC | CA1167976428 | PCSK9 | c.82_83delinsGC (p.Ala28=) c.439_440delinsGC (p.Ala147=) | |
| 1 | g.55039920C>A | CA340482737 | PCSK9 | c.83C>A (p.Ala28Asp) c.440C>A (p.Ala147Asp) | gnomAD v4 |
| 1 | g.55039920C>G | CA340482738 | PCSK9 | c.83C>G (p.Ala28Gly) c.440C>G (p.Ala147Gly) | |
| 1 | g.55039920C>T | CA340482736 | PCSK9 | c.83C>T (p.Ala28Val) c.440C>T (p.Ala147Val) | |
| 1 | g.55039922del | CA658683160 | PCSK9 | c.85del (p.Arg29ValfsTer15) c.442del (p.Arg148ValfsTer15) | ClinVar dbSNP gnomAD v4 |
| 1 | g.55039921C>A | CA417957335 | PCSK9 | c.84C>A (p.Ala28=) c.441C>A (p.Ala147=) | |
| 1 | g.55039921C= | CA1167976429 | PCSK9 | c.84C= (p.Ala28=) c.441C= (p.Ala147=) | |
| 1 | g.55039921C>G | CA417957336 | PCSK9 | c.84C>G (p.Ala28=) c.441C>G (p.Ala147=) | |
| 1 | g.55039921C>T | CA417957337 | PCSK9 | c.84C>T (p.Ala28=) c.441C>T (p.Ala147=) | ClinVar dbSNP |
| 1 | g.55039922C>A | CA22791971 | PCSK9 | c.85C>A (p.Arg29Ser) c.442C>A (p.Arg148Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.55039922C= | CA1167976430 | PCSK9 | c.85C= (p.Arg29=) c.442C= (p.Arg148=) | |
| 1 | g.55039922C>G | CA340482739 | PCSK9 | c.85C>G (p.Arg29Gly) c.442C>G (p.Arg148Gly) | ClinVar dbSNP |
| 1 | g.55039922C>T | CA340482740 | PCSK9 | c.85C>T (p.Arg29Cys) c.442C>T (p.Arg148Cys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.55039923G>A | CA340482741 | PCSK9 | c.86G>A (p.Arg29His) c.443G>A (p.Arg148His) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.55039923G>C | CA340482743 | PCSK9 | c.86G>C (p.Arg29Pro) c.443G>C (p.Arg148Pro) | dbSNP |
| 1 | g.55039923G= | CA1167976431 | PCSK9 | c.86G= (p.Arg29=) c.443G= (p.Arg148=) | |
| 1 | g.55039923G>T | CA340482742 | PCSK9 | c.86G>T (p.Arg29Leu) c.443G>T (p.Arg148Leu) | gnomAD v4 |
| 1 | g.55039924T>A | CA417957339 | PCSK9 | c.87T>A (p.Arg29=) c.444T>A (p.Arg148=) | |
| 1 | g.55039924T>C | CA417957340 | PCSK9 | c.87T>C (p.Arg29=) c.444T>C (p.Arg148=) | |
| 1 | g.55039924T>G | CA417957341 | PCSK9 | c.87T>G (p.Arg29=) c.444T>G (p.Arg148=) | |
| 1 | g.55039925G>A | CA340482744 | PCSK9 | c.88G>A (p.Ala30Thr) c.445G>A (p.Ala149Thr) | gnomAD v4 |
| 1 | g.55039925G>C | CA340482746 | PCSK9 | c.88G>C (p.Ala30Pro) c.445G>C (p.Ala149Pro) | |
| 1 | g.55039925G= | CA1167976432 | PCSK9 | c.88G= (p.Ala30=) c.445G= (p.Ala149=) | |
| 1 | g.55039925G>T | CA340482745 | PCSK9 | c.88G>T (p.Ala30Ser) c.445G>T (p.Ala149Ser) | gnomAD v4 |
| 1 | g.55039926C>A | CA340482747 | PCSK9 | c.89C>A (p.Ala30Glu) c.446C>A (p.Ala149Glu) | ClinVar dbSNP gnomAD v4 |
| 1 | g.55039926C= | CA1167976433 | PCSK9 | c.89C= (p.Ala30=) c.446C= (p.Ala149=) | |
| 1 | g.55039926C>G | CA22791974 | PCSK9 | c.89C>G (p.Ala30Gly) c.446C>G (p.Ala149Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.55039926C>T | CA340482748 | PCSK9 | c.89C>T (p.Ala30Val) c.446C>T (p.Ala149Val) | gnomAD v4 |
| 1 | g.55039926_55039929dup | CA523275415 | PCSK9 | c.89_92dup (p.Gln31HisfsTer?) c.446_449dup (p.Gln150HisfsTer?) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.55039927G>A | CA417957342 | PCSK9 | c.90G>A (p.Ala30=) c.447G>A (p.Ala149=) | ClinVar dbSNP gnomAD v4 COSMIC |
| 1 | g.55039927G>C | CA417957344 | PCSK9 | c.90G>C (p.Ala30=) c.447G>C (p.Ala149=) | |
| 1 | g.55039927G= | CA1167976434 | PCSK9 | c.90G= (p.Ala30=) c.447G= (p.Ala149=) | |
| 1 | g.55039927G>T | CA417957343 | PCSK9 | c.90G>T (p.Ala30=) c.447G>T (p.Ala149=) | gnomAD v4 |
| 1 | g.55039928C>A | CA340482749 | PCSK9 | c.91C>A (p.Gln31Lys) c.448C>A (p.Gln150Lys) | gnomAD v4 |
| 1 | g.55039928C= | CA1167976435 | PCSK9 | c.91C= (p.Gln31=) c.448C= (p.Gln150=) | |
| 1 | g.55039928C>G | CA340482750 | PCSK9 | c.91C>G (p.Gln31Glu) c.448C>G (p.Gln150Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.55039928C>T | CA340482751 | PCSK9 | c.91C>T (p.Gln31Ter) c.448C>T (p.Gln150Ter) | gnomAD v4 |
| 1 | g.55039929A>C | CA340482752 | PCSK9 | c.92A>C (p.Gln31Pro) c.449A>C (p.Gln150Pro) | |
| 1 | g.55039929A>G | CA340482753 | PCSK9 | c.92A>G (p.Gln31Arg) c.449A>G (p.Gln150Arg) | gnomAD v4 |
| 1 | g.55039929A>T | CA340482754 | PCSK9 | c.92A>T (p.Gln31Leu) c.449A>T (p.Gln150Leu) | |
| 1 | g.55039930G>A | CA417957347 | PCSK9 | c.93G>A (p.Gln31=) c.450G>A (p.Gln150=) | |
| 1 | g.55039930G>C | CA340482755 | PCSK9 | c.93G>C (p.Gln31His) c.450G>C (p.Gln150His) | |
| 1 | g.55039930G= | CA1167976436 | PCSK9 | c.93G= (p.Gln31=) c.450G= (p.Gln150=) | |
| 1 | g.55039930G>T | CA340482756 | PCSK9 | c.93G>T (p.Gln31His) c.450G>T (p.Gln150His) | gnomAD v4 |
| 1 | g.55039931G>A | CA045184 | PCSK9 | c.94G>A (p.Glu32Lys) c.451G>A (p.Glu151Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.55039931G>C | CA340482757 | PCSK9 | c.94G>C (p.Glu32Gln) c.451G>C (p.Glu151Gln) | gnomAD v4 |
| 1 | g.55039931G= | CA1147067081 | PCSK9 | c.94G= (p.Glu32=) c.451G= (p.Glu151=) | |
| 1 | g.55039931G>T | CA340482758 | PCSK9 | c.94G>T (p.Glu32Ter) c.451G>T (p.Glu151Ter) | |
| 1 | g.55039931_55039943delinsGAGGACGAGGACG | CA1148406183 | PCSK9 | c.94_106delinsGAGGACGAGGACG (p.Glu32=) c.451_463delinsGAGGACGAGGACG (p.Glu151=) | |
| 1 | g.55039938_55039943dup | CA045097 | PCSK9 | c.101_106dup (p.Asp35_Gly36insGluAsp) c.458_463dup (p.Asp154_Gly155insGluAsp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.55039932A>C | CA340482759 | PCSK9 | c.95A>C (p.Glu32Ala) c.452A>C (p.Glu151Ala) | |
| 1 | g.55039932A>G | CA340482760 | PCSK9 | c.95A>G (p.Glu32Gly) c.452A>G (p.Glu151Gly) | gnomAD v4 |
| 1 | g.55039932A>T | CA340482761 | PCSK9 | c.95A>T (p.Glu32Val) c.452A>T (p.Glu151Val) | |
| 1 | g.55039933G>A | CA417957349 | PCSK9 | c.96G>A (p.Glu32=) c.453G>A (p.Glu151=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.55039933G>C | CA340482762 | PCSK9 | c.96G>C (p.Glu32Asp) c.453G>C (p.Glu151Asp) | |
| 1 | g.55039933G= | CA1167976437 | PCSK9 | c.96G= (p.Glu32=) c.453G= (p.Glu151=) | |
| 1 | g.55039933G>T | CA340482763 | PCSK9 | c.96G>T (p.Glu32Asp) c.453G>T (p.Glu151Asp) | |
| 1 | g.55039934G>A | CA22792017 | PCSK9 | c.97G>A (p.Asp33Asn) c.454G>A (p.Asp152Asn) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.55039934G>C | CA340482764 | PCSK9 | c.97G>C (p.Asp33His) c.454G>C (p.Asp152His) | |
| 1 | g.55039934G= | CA1167976438 | PCSK9 | c.97G= (p.Asp33=) c.454G= (p.Asp152=) | |
| 1 | g.55039934G>T | CA340482765 | PCSK9 | c.97G>T (p.Asp33Tyr) c.454G>T (p.Asp152Tyr) | |
| 1 | g.55039935A>C | CA340482766 | PCSK9 | c.98A>C (p.Asp33Ala) c.455A>C (p.Asp152Ala) | |
| 1 | g.55039935A>G | CA340482767 | PCSK9 | c.98A>G (p.Asp33Gly) c.455A>G (p.Asp152Gly) | |
| 1 | g.55039935A>T | CA340482768 | PCSK9 | c.98A>T (p.Asp33Val) c.455A>T (p.Asp152Val) | |
| 1 | g.55039936C>A | CA340482769 | PCSK9 | c.99C>A (p.Asp33Glu) c.456C>A (p.Asp152Glu) | gnomAD v4 |
| 1 | g.55039936C>G | CA340482770 | PCSK9 | c.99C>G (p.Asp33Glu) c.456C>G (p.Asp152Glu) | gnomAD v4 |
| 1 | g.55039936C>T | CA417957350 | PCSK9 | c.99C>T (p.Asp33=) c.456C>T (p.Asp152=) | gnomAD v4 |
| 1 | g.55039937G>A | CA034587 | PCSK9 | c.100G>A (p.Glu34Lys) c.457G>A (p.Glu153Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.55039937G>C | CA340482771 | PCSK9 | c.100G>C (p.Glu34Gln) c.457G>C (p.Glu153Gln) | |
| 1 | g.55039937G= | CA1143768129 | PCSK9 | c.100G= (p.Glu34=) c.457G= (p.Glu153=) | |
| 1 | g.55039937G>T | CA340482772 | PCSK9 | c.100G>T (p.Glu34Ter) c.457G>T (p.Glu153Ter) | gnomAD v4 |
| 1 | g.55039938A>C | CA340482773 | PCSK9 | c.101A>C (p.Glu34Ala) c.458A>C (p.Glu153Ala) | |
| 1 | g.55039938A>G | CA340482774 | PCSK9 | c.101A>G (p.Glu34Gly) c.458A>G (p.Glu153Gly) | gnomAD v4 |
| 1 | g.55039938A>T | CA340482775 | PCSK9 | c.101A>T (p.Glu34Val) c.458A>T (p.Glu153Val) | |
| 1 | g.55039939G>A | CA417957353 | PCSK9 | c.102G>A (p.Glu34=) c.459G>A (p.Glu153=) | |
| 1 | g.55039939G>C | CA340482776 | PCSK9 | c.102G>C (p.Glu34Asp) c.459G>C (p.Glu153Asp) | |
| 1 | g.55039939G>T | CA340482777 | PCSK9 | c.102G>T (p.Glu34Asp) c.459G>T (p.Glu153Asp) | gnomAD v4 |
| 1 | g.55039940_55039944del | CA2645837444 | PCSK9 | c.103_107del (p.Asp35ArgfsTer?) c.460_464del (p.Asp154ArgfsTer?) | gnomAD v4 |
| 1 | g.55039940G>A | CA340482778 | PCSK9 | c.103G>A (p.Asp35Asn) c.460G>A (p.Asp154Asn) | |
| 1 | g.55039940G>C | CA340482779 | PCSK9 | c.103G>C (p.Asp35His) c.460G>C (p.Asp154His) | gnomAD v4 |
| 1 | g.55039940G= | CA1167976439 | PCSK9 | c.103G= (p.Asp35=) c.460G= (p.Asp154=) | |
| 1 | g.55039940G>T | CA034785 | PCSK9 | c.103G>T (p.Asp35Tyr) c.460G>T (p.Asp154Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.55039943_55039948dup | CA2697552435 | PCSK9 | c.106_111dup (p.Asp37_Tyr38insGlyAsp) c.463_468dup (p.Asp156_Tyr157insGlyAsp) | ClinVar |
| 1 | g.55039941A>C | CA340482782 | PCSK9 | c.104A>C (p.Asp35Ala) c.461A>C (p.Asp154Ala) | |
| 1 | g.55039941A>G | CA340482781 | PCSK9 | c.104A>G (p.Asp35Gly) c.461A>G (p.Asp154Gly) | |
| 1 | g.55039941A>T | CA340482780 | PCSK9 | c.104A>T (p.Asp35Val) c.461A>T (p.Asp154Val) | |
| 1 | g.55039942C>A | CA340482783 | PCSK9 | c.105C>A (p.Asp35Glu) c.462C>A (p.Asp154Glu) | |
| 1 | g.55039942C= | CA1144707896 | PCSK9 | c.105C= (p.Asp35=) c.462C= (p.Asp154=) | |
| 1 | g.55039942C>G | CA340482784 | PCSK9 | c.105C>G (p.Asp35Glu) c.462C>G (p.Asp154Glu) | |
| 1 | g.55039942C>T | CA034842 | PCSK9 | c.105C>T (p.Asp35=) c.462C>T (p.Asp154=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.55039943G>A | CA034887 | PCSK9 | c.106G>A (p.Gly36Ser) c.463G>A (p.Gly155Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.55039943G>C | CA340482785 | PCSK9 | c.106G>C (p.Gly36Arg) c.463G>C (p.Gly155Arg) | gnomAD v4 |
| 1 | g.55039943G= | CA1167976440 | PCSK9 | c.106G= (p.Gly36=) c.463G= (p.Gly155=) | |
| 1 | g.55039943G>T | CA340482786 | PCSK9 | c.106G>T (p.Gly36Cys) c.463G>T (p.Gly155Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.55039944G>A | CA340482787 | PCSK9 | c.107G>A (p.Gly36Asp) c.464G>A (p.Gly155Asp) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.55039944G>C | CA340482788 | PCSK9 | c.107G>C (p.Gly36Ala) c.464G>C (p.Gly155Ala) | |
| 1 | g.55039944G= | CA1167976441 | PCSK9 | c.107G= (p.Gly36=) c.464G= (p.Gly155=) | |
| 1 | g.55039944G>T | CA340482789 | PCSK9 | c.107G>T (p.Gly36Val) c.464G>T (p.Gly155Val) | |
| 1 | g.55039945C>A | CA417957357 | PCSK9 | c.108C>A (p.Gly36=) c.465C>A (p.Gly155=) | ClinVar gnomAD v4 |
| 1 | g.55039945C= | CA1167976442 | PCSK9 | c.108C= (p.Gly36=) c.465C= (p.Gly155=) | |
| 1 | g.55039945C>G | CA417957355 | PCSK9 | c.108C>G (p.Gly36=) c.465C>G (p.Gly155=) | ClinVar |
| 1 | g.55039945C>T | CA417957356 | PCSK9 | c.108C>T (p.Gly36=) c.465C>T (p.Gly155=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.55039946G>A | CA340482790 | PCSK9 | c.109G>A (p.Asp37Asn) c.466G>A (p.Asp156Asn) | gnomAD v4 |
| 1 | g.55039946G>C | CA340482791 | PCSK9 | c.109G>C (p.Asp37His) c.466G>C (p.Asp156His) | |
| 1 | g.55039946G= | CA1167976443 | PCSK9 | c.109G= (p.Asp37=) c.466G= (p.Asp156=) | |
| 1 | g.55039946G>T | CA340482792 | PCSK9 | c.109G>T (p.Asp37Tyr) c.466G>T (p.Asp156Tyr) | dbSNP gnomAD v4 |
| 1 | g.55039947A>C | CA340482795 | PCSK9 | c.110A>C (p.Asp37Ala) c.467A>C (p.Asp156Ala) | |
| 1 | g.55039947A>G | CA340482794 | PCSK9 | c.110A>G (p.Asp37Gly) c.467A>G (p.Asp156Gly) | gnomAD v4 |
| 1 | g.55039947A>T | CA340482793 | PCSK9 | c.110A>T (p.Asp37Val) c.467A>T (p.Asp156Val) | |
| 1 | g.55039948C>A | CA340482796 | PCSK9 | c.111C>A (p.Asp37Glu) c.468C>A (p.Asp156Glu) | ClinVar dbSNP gnomAD v4 |
| 1 | g.55039948C= | CA1167976444 | PCSK9 | c.111C= (p.Asp37=) c.468C= (p.Asp156=) | |
| 1 | g.55039948C>G | CA340482797 | PCSK9 | c.111C>G (p.Asp37Glu) c.468C>G (p.Asp156Glu) | |
| 1 | g.55039948C>T | CA417957361 | PCSK9 | c.111C>T (p.Asp37=) c.468C>T (p.Asp156=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.55039949del | CA2743685338 | PCSK9 | c.112del (p.Tyr38ThrfsTer6) c.469del (p.Tyr157ThrfsTer6) | |
| 1 | g.55039949T>A | CA340482798 | PCSK9 | c.112T>A (p.Tyr38Asn) c.469T>A (p.Tyr157Asn) | |
| 1 | g.55039949T>C | CA22792057 | PCSK9 | c.112T>C (p.Tyr38His) c.469T>C (p.Tyr157His) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.55039949T>G | CA340482799 | PCSK9 | c.112T>G (p.Tyr38Asp) c.469T>G (p.Tyr157Asp) | |
| 1 | g.55039949T= | CA1167976445 | PCSK9 | c.112T= (p.Tyr38=) c.469T= (p.Tyr157=) | |
| 1 | g.55039950A>C | CA340482800 | PCSK9 | c.113A>C (p.Tyr38Ser) c.470A>C (p.Tyr157Ser) | |
| 1 | g.55039950A>G | CA340482801 | PCSK9 | c.113A>G (p.Tyr38Cys) c.470A>G (p.Tyr157Cys) | ClinVar gnomAD v4 |
| 1 | g.55039950A>T | CA340482802 | PCSK9 | c.113A>T (p.Tyr38Phe) c.470A>T (p.Tyr157Phe) | gnomAD v4 |
| 1 | g.55039951C>A | CA340482803 | PCSK9 | c.114C>A (p.Tyr38Ter) c.471C>A (p.Tyr157Ter) | gnomAD v4 |
| 1 | g.55039951C>G | CA340482804 | PCSK9 | c.114C>G (p.Tyr38Ter) c.471C>G (p.Tyr157Ter) | gnomAD v4 |
| 1 | g.55039951C>T | CA417957364 | PCSK9 | c.114C>T (p.Tyr38=) c.471C>T (p.Tyr157=) | ClinVar gnomAD v4 |
| 1 | g.55039952G>A | CA035375 | PCSK9 | c.115G>A (p.Glu39Lys) c.472G>A (p.Glu158Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.55039952G>C | CA340482805 | PCSK9 | c.115G>C (p.Glu39Gln) c.472G>C (p.Glu158Gln) | gnomAD v4 |
| 1 | g.55039952G= | CA1167976446 | PCSK9 | c.115G= (p.Glu39=) c.472G= (p.Glu158=) | |
| 1 | g.55039952G>T | CA340482806 | PCSK9 | c.115G>T (p.Glu39Ter) c.472G>T (p.Glu158Ter) | gnomAD v4 |
| 1 | g.55039953A= | CA1167976447 | PCSK9 | c.116A= (p.Glu39=) c.473A= (p.Glu158=) | |
| 1 | g.55039953A>C | CA340482809 | PCSK9 | c.116A>C (p.Glu39Ala) c.473A>C (p.Glu158Ala) | |
| 1 | g.55039953A>G | CA340482808 | PCSK9 | c.116A>G (p.Glu39Gly) c.473A>G (p.Glu158Gly) | |
| 1 | g.55039953A>T | CA340482807 | PCSK9 | c.116A>T (p.Glu39Val) c.473A>T (p.Glu158Val) | dbSNP gnomAD v4 |
| 1 | g.55039954G>A | CA417957366 | PCSK9 | c.117G>A (p.Glu39=) c.474G>A (p.Glu158=) | gnomAD v4 |
| 1 | g.55039954G>C | CA340482810 | PCSK9 | c.117G>C (p.Glu39Asp) c.474G>C (p.Glu158Asp) | |
| 1 | g.55039954G>T | CA340482811 | PCSK9 | c.117G>T (p.Glu39Asp) c.474G>T (p.Glu158Asp) | gnomAD v4 |
| 1 | g.55039955G>A | CA340482812 | PCSK9 | c.118G>A (p.Glu40Lys) c.475G>A (p.Glu159Lys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.55039955G>C | CA340482813 | PCSK9 | c.118G>C (p.Glu40Gln) c.475G>C (p.Glu159Gln) | |
| 1 | g.55039955G= | CA1167976448 | PCSK9 | c.118G= (p.Glu40=) c.475G= (p.Glu159=) | |
| 1 | g.55039955G>T | CA340482814 | PCSK9 | c.118G>T (p.Glu40Ter) c.475G>T (p.Glu159Ter) | gnomAD v4 |
| 1 | g.55039956A>C | CA340482815 | PCSK9 | c.119A>C (p.Glu40Ala) c.476A>C (p.Glu159Ala) | |
| 1 | g.55039956A>G | CA340482816 | PCSK9 | c.119A>G (p.Glu40Gly) c.476A>G (p.Glu159Gly) | gnomAD v4 COSMIC COSMIC |
| 1 | g.55039956A>T | CA340482817 | PCSK9 | c.119A>T (p.Glu40Val) c.476A>T (p.Glu159Val) | |
| 1 | g.55039957G>A | CA417957371 | PCSK9 | c.120G>A (p.Glu40=) c.477G>A (p.Glu159=) | ClinVar gnomAD v4 |
| 1 | g.55039957G>C | CA340482818 | PCSK9 | c.120G>C (p.Glu40Asp) c.477G>C (p.Glu159Asp) | |
| 1 | g.55039957G>T | CA340482819 | PCSK9 | c.120G>T (p.Glu40Asp) c.477G>T (p.Glu159Asp) | gnomAD v4 |
| 1 | g.55039958C>A | CA340482820 | PCSK9 | c.121C>A (p.Leu41Met) c.478C>A (p.Leu160Met) | gnomAD v4 |
| 1 | g.55039958C= | CA1167976449 | PCSK9 | c.121C= (p.Leu41=) c.478C= (p.Leu160=) | |
| 1 | g.55039958C>G | CA035959 | PCSK9 | c.121C>G (p.Leu41Val) c.478C>G (p.Leu160Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.55039958C>T | CA417957372 | PCSK9 | c.121C>T (p.Leu41=) c.478C>T (p.Leu160=) | gnomAD v4 |
| 1 | g.55039959T>A | CA036030 | PCSK9 | c.122T>A (p.Leu41Gln) c.479T>A (p.Leu160Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.55039959T>C | CA340482822 | PCSK9 | c.122T>C (p.Leu41Pro) c.479T>C (p.Leu160Pro) | gnomAD v4 |
| 1 | g.55039959T>G | CA340482821 | PCSK9 | c.122T>G (p.Leu41Arg) c.479T>G (p.Leu160Arg) | |
| 1 | g.55039959T= | CA1145989361 | PCSK9 | c.122T= (p.Leu41=) c.479T= (p.Leu160=) | |
| 1 | g.55039960G>A | CA417957373 | PCSK9 | c.123G>A (p.Leu41=) c.480G>A (p.Leu160=) | gnomAD v4 |
| 1 | g.55039960G>C | CA417957375 | PCSK9 | c.123G>C (p.Leu41=) c.480G>C (p.Leu160=) | ClinVar dbSNP |
| 1 | g.55039960G= | CA1167976450 | PCSK9 | c.123G= (p.Leu41=) c.480G= (p.Leu160=) | |
| 1 | g.55039960G>T | CA417957376 | PCSK9 | c.123G>T (p.Leu41=) c.480G>T (p.Leu160=) | gnomAD v4 |
| 1 | g.55039961G>A | CA340482823 | PCSK9 | c.124G>A (p.Val42Met) c.481G>A (p.Val161Met) | gnomAD v4 |
| 1 | g.55039961G>C | CA340482824 | PCSK9 | c.124G>C (p.Val42Leu) c.481G>C (p.Val161Leu) | |
| 1 | g.55039961G>T | CA340482825 | PCSK9 | c.124G>T (p.Val42Leu) c.481G>T (p.Val161Leu) | |
| 1 | g.55039962T>A | CA340482826 | PCSK9 | c.125T>A (p.Val42Glu) c.482T>A (p.Val161Glu) | |
| 1 | g.55039962T>C | CA340482827 | PCSK9 | c.125T>C (p.Val42Ala) c.482T>C (p.Val161Ala) | |
| 1 | g.55039962T>G | CA340482828 | PCSK9 | c.125T>G (p.Val42Gly) c.482T>G (p.Val161Gly) | |
| 1 | g.55039963G>A | CA417957379 | PCSK9 | c.126G>A (p.Val42=) c.483G>A (p.Val161=) | gnomAD v4 |
| 1 | g.55039963G>C | CA417957380 | PCSK9 | c.126G>C (p.Val42=) c.483G>C (p.Val161=) | |
| 1 | g.55039963G= | CA1143974653 | PCSK9 | c.126G= (p.Val42=) c.483G= (p.Val161=) | |
| 1 | g.55039963G>T | CA036173 | PCSK9 | c.126G>T (p.Val42=) c.483G>T (p.Val161=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.55039964C>A | CA340482829 | PCSK9 | c.127C>A (p.Leu43Ile) c.484C>A (p.Leu162Ile) | gnomAD v4 |
| 1 | g.55039964C>G | CA340482830 | PCSK9 | c.127C>G (p.Leu43Val) c.484C>G (p.Leu162Val) | |
| 1 | g.55039964C>T | CA417957381 | PCSK9 | c.127C>T (p.Leu43=) c.484C>T (p.Leu162=) | gnomAD v4 |
| 1 | g.55039965T>A | CA340482831 | PCSK9 | c.128T>A (p.Leu43Gln) c.485T>A (p.Leu162Gln) | |
| 1 | g.55039965T>C | CA340482832 | PCSK9 | c.128T>C (p.Leu43Pro) c.485T>C (p.Leu162Pro) | gnomAD v4 |
| 1 | g.55039965T>G | CA340482833 | PCSK9 | c.128T>G (p.Leu43Arg) c.485T>G (p.Leu162Arg) | |
| 1 | g.55039966A>C | CA417957382 | PCSK9 | c.129A>C (p.Leu43=) c.486A>C (p.Leu162=) | |
| 1 | g.55039966A>G | CA417957384 | PCSK9 | c.129A>G (p.Leu43=) c.486A>G (p.Leu162=) | |
| 1 | g.55039966A>T | CA417957385 | PCSK9 | c.129A>T (p.Leu43=) c.486A>T (p.Leu162=) | |
| 1 | g.55039967G>A | CA22792080 | PCSK9 | c.130G>A (p.Ala44Thr) c.487G>A (p.Ala163Thr) | dbSNP gnomAD v4 |
| 1 | g.55039967G>C | CA340482834 | PCSK9 | c.130G>C (p.Ala44Pro) c.487G>C (p.Ala163Pro) | |
| 1 | g.55039967G= | CA1167976451 | PCSK9 | c.130G= (p.Ala44=) c.487G= (p.Ala163=) | |
| 1 | g.55039967G>T | CA22792082 | PCSK9 | c.130G>T (p.Ala44Ser) c.487G>T (p.Ala163Ser) | dbSNP gnomAD v4 |
| 1 | g.55039968C>A | CA340482835 | PCSK9 | c.131C>A (p.Ala44Asp) c.488C>A (p.Ala163Asp) | gnomAD v4 |
| 1 | g.55039968C= | CA1167976452 | PCSK9 | c.131C= (p.Ala44=) c.488C= (p.Ala163=) | |
| 1 | g.55039968C>G | CA340482836 | PCSK9 | c.131C>G (p.Ala44Gly) c.488C>G (p.Ala163Gly) | dbSNP gnomAD v4 |
| 1 | g.55039968C>T | CA340482837 | PCSK9 | c.131C>T (p.Ala44Val) c.488C>T (p.Ala163Val) | gnomAD v4 |
| 1 | g.55039969C>A | CA417957386 | PCSK9 | c.132C>A (p.Ala44=) c.489C>A (p.Ala163=) | gnomAD v4 |
| 1 | g.55039969C= | CA1167976453 | PCSK9 | c.132C= (p.Ala44=) c.489C= (p.Ala163=) | |
| 1 | g.55039969C>G | CA417957387 | PCSK9 | c.132C>G (p.Ala44=) c.489C>G (p.Ala163=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.55039969C>T | CA417957388 | PCSK9 | c.132C>T (p.Ala44=) c.489C>T (p.Ala163=) | ClinVar dbSNP |
| 1 | g.55039970T>A | CA340482838 | PCSK9 | c.133T>A (p.Leu45Met) c.490T>A (p.Leu164Met) | gnomAD v4 |
| 1 | g.55039970T>C | CA417957389 | PCSK9 | c.133T>C (p.Leu45=) c.490T>C (p.Leu164=) | dbSNP gnomAD v4 |
| 1 | g.55039970T>G | CA340482839 | PCSK9 | c.133T>G (p.Leu45Val) c.490T>G (p.Leu164Val) | gnomAD v4 |
| 1 | g.55039971T>A | CA340482842 | PCSK9 | c.134T>A (p.Leu45Ter) c.491T>A (p.Leu164Ter) | gnomAD v4 |
| 1 | g.55039971T>C | CA340482840 | PCSK9 | c.134T>C (p.Leu45Ser) c.491T>C (p.Leu164Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.55039971T>G | CA340482841 | PCSK9 | c.134T>G (p.Leu45Trp) c.491T>G (p.Leu164Trp) | |
| 1 | g.55039971T= | CA1167976454 | PCSK9 | c.134T= (p.Leu45=) c.491T= (p.Leu164=) | |
| 1 | g.55039972G>A | CA417957390 | PCSK9 | c.135G>A (p.Leu45=) c.492G>A (p.Leu164=) | ClinVar dbSNP gnomAD v4 |
| 1 | g.55039972G>C | CA340482843 | PCSK9 | c.135G>C (p.Leu45Phe) c.492G>C (p.Leu164Phe) | |
| 1 | g.55039972G= | CA1167976455 | PCSK9 | c.135G= (p.Leu45=) c.492G= (p.Leu164=) | |
| 1 | g.55039972G>T | CA340482844 | PCSK9 | c.135G>T (p.Leu45Phe) c.492G>T (p.Leu164Phe) | gnomAD v4 |
| 1 | g.55039973C>A | CA340482845 | PCSK9 | c.136C>A (p.Arg46Ser) c.493C>A (p.Arg165Ser) | gnomAD v4 |
| 1 | g.55039973C= | CA1148482572 | PCSK9 | c.136C= (p.Arg46=) c.493C= (p.Arg165=) | |
| 1 | g.55039973C>G | CA340482846 | PCSK9 | c.136C>G (p.Arg46Gly) c.493C>G (p.Arg165Gly) | |
| 1 | g.55039973C>T | CA036614 | PCSK9 | c.136C>T (p.Arg46Cys) c.493C>T (p.Arg165Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.55039974G>A | CA22792102 | PCSK9 | c.137G>A (p.Arg46His) c.494G>A (p.Arg165His) | dbSNP gnomAD v4 COSMIC COSMIC |
| 1 | g.55039974G>C | CA340482847 | PCSK9 | c.137G>C (p.Arg46Pro) c.494G>C (p.Arg165Pro) | |
| 1 | g.55039974G= | CA1140280946 | PCSK9 | c.137G= (p.Arg46=) c.494G= (p.Arg165=) | |
| 1 | g.55039974G>T | CA023110 | PCSK9 | c.137G>T (p.Arg46Leu) c.494G>T (p.Arg165Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |