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New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.55039558_55039578delinsAGGCGCTCATGGTTGCAGGCG | CA1167976227 | PCSK9 | c.-280_-260delinsAGGCGCTCATGGTTGCAGGCG (n.-280_-260delinsAGGCGCTCATGGTTGCAGGCG) c.78_98delinsAGGCGCTCATGGTTGCAGGCG (p.Arg26=) | |
| 1 | g.55039564_55039583del | CA737022711 | PCSK9 | c.-274_-255del (n.-274_-255del) c.84_103del (p.His29AlafsTer7) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.55039576_55039666del | CA2645836121 | PCSK9 | c.-262_-172del (n.-262_-172del) c.96_186del (p.Arg32SerfsTer?) | gnomAD v4 |
| 1 | g.55039576del | CA2598278139 | PCSK9 | c.-262del (n.-262del) c.96del (p.Arg32SerfsTer15) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.55039576G>A | CA2645836155 | PCSK9 | c.-262G>A (n.-262G>A) c.96G>A (p.Arg32=) | gnomAD v4 |
| 1 | g.55039576G>C | CA2645836159 | PCSK9 | c.-262G>C (n.-262G>C) c.96G>C (p.Arg32Ser) | gnomAD v4 |
| 1 | g.55039577C= | CA1167976244 | PCSK9 | c.-261C= (n.-261C=) c.97C= (p.Arg33=) | |
| 1 | g.55039577C>G | CA1167976243 | PCSK9 | c.-261C>G (n.-261C>G) c.97C>G (p.Arg33Gly) | dbSNP |
| 1 | g.55039577C>T | CA2645836161 | PCSK9 | c.-261C>T (n.-261C>T) c.97C>T (p.Arg33Trp) | gnomAD v4 |
| 1 | g.55039578G>A | CA2645836162 | PCSK9 | c.-260G>A (n.-260G>A) c.98G>A (p.Arg33Gln) | gnomAD v4 |
| 1 | g.55039578G>C | CA523275358 | PCSK9 | c.-260G>C (n.-260G>C) c.98G>C (p.Arg33Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.55039578G= | CA1167976245 | PCSK9 | c.-260G= (n.-260G=) c.98G= (p.Arg33=) | |
| 1 | g.55039579G>A | CA2645836165 | PCSK9 | c.-259G>A (n.-259G>A) c.99G>A (p.Arg33=) | gnomAD v4 |
| 1 | g.55039579_55039583del | CA2645836164 | PCSK9 | c.-259_-255del (n.-259_-255del) c.99_103del (p.Pro35ValfsTer6) | gnomAD v4 |
| 1 | g.55039580G>A | CA1167976247 | PCSK9 | c.-258G>A (n.-258G>A) c.100G>A (p.Ala34Thr) | dbSNP gnomAD v4 |
| 1 | g.55039580G>C | CA22791349 | PCSK9 | c.-258G>C (n.-258G>C) c.100G>C (p.Ala34Pro) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.55039580G= | CA1167976246 | PCSK9 | c.-258G= (n.-258G=) c.100G= (p.Ala34=) | |
| 1 | g.55039581C>A | CA2645836167 | PCSK9 | c.-257C>A (n.-257C>A) c.101C>A (p.Ala34Glu) | gnomAD v4 |
| 1 | g.55039581C= | CA1167976248 | PCSK9 | c.-257C= (n.-257C=) c.101C= (p.Ala34=) | |
| 1 | g.55039581C>T | CA22791350 | PCSK9 | c.-257C>T (n.-257C>T) c.101C>T (p.Ala34Val) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.55039582G>A | CA2645836171 | PCSK9 | c.-256G>A (n.-256G>A) c.102G>A (p.Ala34=) | gnomAD v4 |
| 1 | g.55039582G>T | CA2645836169 | PCSK9 | c.-256G>T (n.-256G>T) c.102G>T (p.Ala34=) | gnomAD v4 |
| 1 | g.55039583C>A | CA2645836175 | PCSK9 | c.-255C>A (n.-255C>A) c.103C>A (p.Pro35Thr) | gnomAD v4 |
| 1 | g.55039583C>T | CA2645836177 | PCSK9 | c.-255C>T (n.-255C>T) c.103C>T (p.Pro35Ser) | gnomAD v4 |
| 1 | g.55039584C= | CA1167976249 | PCSK9 | c.-254C= (n.-254C=) c.104C= (p.Pro35=) | |
| 1 | g.55039584C>G | CA2645836179 | PCSK9 | c.-254C>G (n.-254C>G) c.104C>G (p.Pro35Arg) | gnomAD v4 |
| 1 | g.55039584C>T | CA523275359 | PCSK9 | c.-254C>T (n.-254C>T) c.104C>T (p.Pro35Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.55039585G>A | CA22791351 | PCSK9 | c.-253G>A (n.-253G>A) c.105G>A (p.Pro35=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.55039585G= | CA1146637943 | PCSK9 | c.-253G= (n.-253G=) c.105G= (p.Pro35=) | |
| 1 | g.55039586C>A | CA2645836187 | PCSK9 | c.-252C>A (n.-252C>A) c.106C>A (p.Pro36Thr) | gnomAD v4 |
| 1 | g.55039586C>T | CA2645836188 | PCSK9 | c.-252C>T (n.-252C>T) c.106C>T (p.Pro36Ser) | gnomAD v4 |
| 1 | g.55039587C= | CA1167976250 | PCSK9 | c.-251C= (n.-251C=) c.107C= (p.Pro36=) | |
| 1 | g.55039587C>G | CA2553216355 | PCSK9 | c.-251C>G (n.-251C>G) c.107C>G (p.Pro36Arg) | gnomAD v4 |
| 1 | g.55039587C>T | CA1167976251 | PCSK9 | c.-251C>T (n.-251C>T) c.107C>T (p.Pro36Leu) | dbSNP gnomAD v4 |
| 1 | g.55039588G>A | CA22791356 | PCSK9 | c.-250G>A (n.-250G>A) c.108G>A (p.Pro36=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.55039588G>C | CA2645836200 | PCSK9 | c.-250G>C (n.-250G>C) c.108G>C (p.Pro36=) | gnomAD v4 |
| 1 | g.55039588G= | CA1147410391 | PCSK9 | c.-250G= (n.-250G=) c.108G= (p.Pro36=) | |
| 1 | g.55039588G>T | CA737022723 | PCSK9 | c.-250G>T (n.-250G>T) c.108G>T (p.Pro36=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.55039589T>G | CA2645836204 | PCSK9 | c.-249T>G (n.-249T>G) c.109T>G (p.Phe37Val) | gnomAD v4 |
| 1 | g.55039591C>A | CA2539682161 | PCSK9 | c.-247C>A (n.-247C>A) c.111C>A (p.Phe37Leu) | gnomAD v4 |
| 1 | g.55039591C>T | CA2645836206 | PCSK9 | c.-247C>T (n.-247C>T) c.111C>T (p.Phe37=) | gnomAD v4 |
| 1 | g.55039592A= | CA1167976253 | PCSK9 | c.-246A= (n.-246A=) c.112A= (p.Ser38=) | |
| 1 | g.55039592A>C | CA1001927773 | PCSK9 | c.-246A>C (n.-246A>C) c.112A>C (p.Ser38Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.55039592A>G | CA22791358 | PCSK9 | c.-246A>G (n.-246A>G) c.112A>G (p.Ser38Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.55039592_55039593delinsAG | CA1167976252 | PCSK9 | c.-246_-245delinsAG (n.-246_-245delinsAG) c.112_113delinsAG (p.Ser38=) | |
| 1 | g.55039593del | CA1001927786 | PCSK9 | c.-245del (n.-245del) c.113del (p.Ser38IlefsTer9) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.55039593G>A | CA1001927782 | PCSK9 | c.-245G>A (n.-245G>A) c.113G>A (p.Ser38Asn) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.55039593G>C | CA10610164 | PCSK9 | c.-245G>C (n.-245G>C) c.113G>C (p.Ser38Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.55039593G= | CA1140475622 | PCSK9 | c.-245G= (n.-245G=) c.113G= (p.Ser38=) | |
| 1 | g.55039593G>T | CA10588855 | PCSK9 | c.-245G>T (n.-245G>T) c.113G>T (p.Ser38Ile) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.55039594T>A | CA2695861043 | PCSK9 | c.-244T>A (n.-244T>A) c.114T>A (p.Ser38Arg) | dbSNP |
| 1 | g.55039594T>C | CA1167976255 | PCSK9 | c.-244T>C (n.-244T>C) c.114T>C (p.Ser38=) | dbSNP |
| 1 | g.55039594T= | CA1167976254 | PCSK9 | c.-244T= (n.-244T=) c.114T= (p.Ser38=) | |
| 1 | g.55039596C>A | CA2645836222 | PCSK9 | c.-242C>A (n.-242C>A) c.116C>A (p.Ser39Ter) | gnomAD v4 |
| 1 | g.55039596C= | CA1167976256 | PCSK9 | c.-242C= (n.-242C=) c.116C= (p.Ser39=) | |
| 1 | g.55039596C>G | CA737022729 | PCSK9 | c.-242C>G (n.-242C>G) c.116C>G (p.Ser39Ter) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.55039596C>T | CA2645836223 | PCSK9 | c.-242C>T (n.-242C>T) c.116C>T (p.Ser39Leu) | gnomAD v4 |
| 1 | g.55039597A>G | CA2645836224 | PCSK9 | c.-241A>G (n.-241A>G) c.117A>G (p.Ser39=) | gnomAD v4 |
| 1 | g.55039597A>T | CA2645836225 | PCSK9 | c.-241A>T (n.-241A>T) c.117A>T (p.Ser39=) | gnomAD v4 |
| 1 | g.55039598G>A | CA1167976258 | PCSK9 | c.-240G>A (n.-240G>A) c.118G>A (p.Gly40Arg) | dbSNP gnomAD v4 |
| 1 | g.55039598G= | CA1167976257 | PCSK9 | c.-240G= (n.-240G=) c.118G= (p.Gly40=) | |
| 1 | g.55039598G>T | CA2645836227 | PCSK9 | c.-240G>T (n.-240G>T) c.118G>T (p.Gly40Trp) | gnomAD v4 |
| 1 | g.55039599G>C | CA737022730 | PCSK9 | c.-239G>C (n.-239G>C) c.119G>C (p.Gly40Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.55039599G= | CA1167976259 | PCSK9 | c.-239G= (n.-239G=) c.119G= (p.Gly40=) | |
| 1 | g.55039599G>T | CA22791378 | PCSK9 | c.-239G>T (n.-239G>T) c.119G>T (p.Gly40Val) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.55039600G>A | CA2645836230 | PCSK9 | c.-238G>A (n.-238G>A) c.120G>A (p.Gly40=) | gnomAD v4 |
| 1 | g.55039600G>T | CA2645836231 | PCSK9 | c.-238G>T (n.-238G>T) c.120G>T (p.Gly40=) | gnomAD v4 |
| 1 | g.55039601T>G | CA10611401 | PCSK9 | c.-237T>G (n.-237T>G) c.121T>G (p.Ser41Ala) | ClinVar dbSNP |
| 1 | g.55039601T= | CA1167976260 | PCSK9 | c.-237T= (n.-237T=) c.121T= (p.Ser41=) | |
| 1 | g.55039602C>A | CA737022735 | PCSK9 | c.-236C>A (n.-236C>A) c.122C>A (p.Ser41Tyr) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.55039602C= | CA1167976261 | PCSK9 | c.-236C= (n.-236C=) c.122C= (p.Ser41=) | |
| 1 | g.55039602C>T | CA2645836232 | PCSK9 | c.-236C>T (n.-236C>T) c.122C>T (p.Ser41Phe) | gnomAD v4 |
| 1 | g.55039603T>C | CA1167976263 | PCSK9 | c.-235T>C (n.-235T>C) c.123T>C (p.Ser41=) | dbSNP gnomAD v4 |
| 1 | g.55039603T= | CA1167976262 | PCSK9 | c.-235T= (n.-235T=) c.123T= (p.Ser41=) | |
| 1 | g.55039607_55039632dup | CA2645836235 | PCSK9 | c.-231_-206dup (n.-231_-206dup) c.127_152dup (p.Arg51SerfsTer5) | gnomAD v4 |
| 1 | g.55039605A>G | CA2645836237 | PCSK9 | c.-233A>G (n.-233A>G) c.125A>G (p.Glu42Gly) | gnomAD v4 |
| 1 | g.55039606G>A | CA1001927793 | PCSK9 | c.-232G>A (n.-232G>A) c.126G>A (p.Glu42=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.55039606G= | CA1167976264 | PCSK9 | c.-232G= (n.-232G=) c.126G= (p.Glu42=) | |
| 1 | g.55039606G>T | CA2645836241 | PCSK9 | c.-232G>T (n.-232G>T) c.126G>T (p.Glu42Asp) | gnomAD v4 |
| 1 | g.55039607C>A | CA2645836244 | PCSK9 | c.-231C>A (n.-231C>A) c.127C>A (p.Pro43Thr) | gnomAD v4 |
| 1 | g.55039607C>T | CA2645836245 | PCSK9 | c.-231C>T (n.-231C>T) c.127C>T (p.Pro43Ser) | gnomAD v4 |
| 1 | g.55039608C>A | CA2645836247 | PCSK9 | c.-230C>A (n.-230C>A) c.128C>A (p.Pro43His) | gnomAD v4 |
| 1 | g.55039609T>C | CA2598278140 | PCSK9 | c.-229T>C (n.-229T>C) c.129T>C (p.Pro43=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.55039610G>A | CA2645836253 | PCSK9 | c.-228G>A (n.-228G>A) c.130G>A (p.Gly44Arg) | gnomAD v4 |
| 1 | g.55039610G>T | CA2645836256 | PCSK9 | c.-228G>T (n.-228G>T) c.130G>T (p.Gly44Ter) | gnomAD v4 |
| 1 | g.55039611del | CA2645836251 | PCSK9 | c.-227del (n.-227del) c.131del (p.Gly44GlufsTer3) | gnomAD v4 |
| 1 | g.55039610_55039619delinsGGAGGAGTGA | CA1167976265 | PCSK9 | c.-228_-219delinsGGAGGAGTGA (n.-228_-219delinsGGAGGAGTGA) c.130_139delinsGGAGGAGTGA (p.Gly44=) | |
| 1 | g.55039612_55039625dup | CA2598278141 | PCSK9 | c.-226_-213dup (n.-226_-213dup) c.132_145dup (p.Ala49GlufsTer3) | gnomAD v3 gnomAD v4 |
| 1 | g.55039611G>A | CA2645836264 | PCSK9 | c.-227G>A (n.-227G>A) c.131G>A (p.Gly44Glu) | gnomAD v4 |
| 1 | g.55039611G>C | CA2645836266 | PCSK9 | c.-227G>C (n.-227G>C) c.131G>C (p.Gly44Ala) | gnomAD v4 |
| 1 | g.55039611G= | CA1167976267 | PCSK9 | c.-227G= (n.-227G=) c.131G= (p.Gly44=) | |
| 1 | g.55039611G>T | CA737022740 | PCSK9 | c.-227G>T (n.-227G>T) c.131G>T (p.Gly44Val) | dbSNP gnomAD v4 |
| 1 | g.55039611_55039617delinsGAGGAGT | CA1167976266 | PCSK9 | c.-227_-221delinsGAGGAGT (n.-227_-221delinsGAGGAGT) c.131_137delinsGAGGAGT (p.Gly44=) | |
| 1 | g.55039612_55039620del | CA523275360 | PCSK9 | c.-226_-218del (n.-226_-218del) c.132_140del (p.Gly45_Ser47del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.55039612A>G | CA2645836280 | PCSK9 | c.-226A>G (n.-226A>G) c.132A>G (p.Gly44=) | gnomAD v4 |
| 1 | g.55039612_55039617del | CA737022741 | PCSK9 | c.-226_-221del (n.-226_-221del) c.132_137del (p.Gly45_Val46del) | dbSNP |
| 1 | g.55039613G>A | CA2832429546 | PCSK9 | c.-225G>A (n.-225G>A) c.133G>A (p.Gly45Arg) | |
| 1 | g.55039613G>T | CA2645836282 | PCSK9 | c.-225G>T (n.-225G>T) c.133G>T (p.Gly45Ter) | gnomAD v4 |
| 1 | g.55039614G>A | CA1167976269 | PCSK9 | c.-224G>A (n.-224G>A) c.134G>A (p.Gly45Glu) | dbSNP gnomAD v4 |
| 1 | g.55039614G= | CA1167976268 | PCSK9 | c.-224G= (n.-224G=) c.134G= (p.Gly45=) | |
| 1 | g.55039614G>T | CA2645836284 | PCSK9 | c.-224G>T (n.-224G>T) c.134G>T (p.Gly45Val) | gnomAD v4 |
| 1 | g.55039615A>C | CA2645836288 | PCSK9 | c.-223A>C (n.-223A>C) c.135A>C (p.Gly45=) | gnomAD v4 |
| 1 | g.55039615A>G | CA2645836289 | PCSK9 | c.-223A>G (n.-223A>G) c.135A>G (p.Gly45=) | gnomAD v4 |
| 1 | g.55039621_55039632del | CA2645836287 | PCSK9 | c.-217_-206del (n.-217_-206del) c.141_152del (p.Ser47_Val50del) | gnomAD v4 |
| 1 | g.55039616G>A | CA1167976271 | PCSK9 | c.-222G>A (n.-222G>A) c.136G>A (p.Val46Met) | dbSNP gnomAD v4 |
| 1 | g.55039616G>C | CA2645836290 | PCSK9 | c.-222G>C (n.-222G>C) c.136G>C (p.Val46Leu) | gnomAD v4 |
| 1 | g.55039616G= | CA1167976270 | PCSK9 | c.-222G= (n.-222G=) c.136G= (p.Val46=) | |
| 1 | g.55039617T>A | CA737022745 | PCSK9 | c.-221T>A (n.-221T>A) c.137T>A (p.Val46Glu) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.55039617T>C | CA2645836294 | PCSK9 | c.-221T>C (n.-221T>C) c.137T>C (p.Val46Ala) | gnomAD v4 |
| 1 | g.55039617T>G | CA10610490 | PCSK9 | c.-221T>G (n.-221T>G) c.137T>G (p.Val46Gly) | ClinVar dbSNP |
| 1 | g.55039617T= | CA1167976272 | PCSK9 | c.-221T= (n.-221T=) c.137T= (p.Val46=) | |
| 1 | g.55039618G>C | CA737022749 | PCSK9 | c.-220G>C (n.-220G>C) c.138G>C (p.Val46=) | dbSNP |
| 1 | g.55039618G= | CA1167976273 | PCSK9 | c.-220G= (n.-220G=) c.138G= (p.Val46=) | |
| 1 | g.55039618G>T | CA2645836296 | PCSK9 | c.-220G>T (n.-220G>T) c.138G>T (p.Val46=) | gnomAD v4 |
| 1 | g.55039619A= | CA1167976274 | PCSK9 | c.-219A= (n.-219A=) c.139A= (p.Ser47=) | |
| 1 | g.55039619A>T | CA737022752 | PCSK9 | c.-219A>T (n.-219A>T) c.139A>T (p.Ser47Cys) | dbSNP gnomAD v4 |
| 1 | g.55039620G>C | CA737022753 | PCSK9 | c.-218G>C (n.-218G>C) c.140G>C (p.Ser47Thr) | dbSNP |
| 1 | g.55039620G= | CA1167976275 | PCSK9 | c.-218G= (n.-218G=) c.140G= (p.Ser47=) | |
| 1 | g.55039620G>T | CA2645836298 | PCSK9 | c.-218G>T (n.-218G>T) c.140G>T (p.Ser47Ile) | gnomAD v4 |
| 1 | g.55039621C>A | CA2645836301 | PCSK9 | c.-217C>A (n.-217C>A) c.141C>A (p.Ser47Arg) | gnomAD v4 |
| 1 | g.55039621C>T | CA2645836300 | PCSK9 | c.-217C>T (n.-217C>T) c.141C>T (p.Ser47=) | gnomAD v4 |
| 1 | g.55039621_55039622insTCC | CA523275361 | PCSK9 | c.-217_-216insTCC (n.-217_-216insTCC) c.141_142insTCC (p.Ser47_Gln48insSer) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.55039622C>A | CA2645836303 | PCSK9 | c.-216C>A (n.-216C>A) c.142C>A (p.Gln48Lys) | gnomAD v4 |
| 1 | g.55039622C= | CA1167976276 | PCSK9 | c.-216C= (n.-216C=) c.142C= (p.Gln48=) | |
| 1 | g.55039622C>T | CA737022754 | PCSK9 | c.-216C>T (n.-216C>T) c.142C>T (p.Gln48Ter) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.55039623A>T | CA2645836306 | PCSK9 | c.-215A>T (n.-215A>T) c.143A>T (p.Gln48Leu) | gnomAD v4 |
| 1 | g.55039624G>T | CA2645836307 | PCSK9 | c.-214G>T (n.-214G>T) c.144G>T (p.Gln48His) | gnomAD v4 |
| 1 | g.55039625G>A | CA2645836308 | PCSK9 | c.-213G>A (n.-213G>A) c.145G>A (p.Ala49Thr) | gnomAD v4 |
| 1 | g.55039625G>T | CA2645836309 | PCSK9 | c.-213G>T (n.-213G>T) c.145G>T (p.Ala49Ser) | gnomAD v4 |
| 1 | g.55039626C>A | CA2645836310 | PCSK9 | c.-212C>A (n.-212C>A) c.146C>A (p.Ala49Glu) | gnomAD v4 |
| 1 | g.55039626C>T | CA2645836311 | PCSK9 | c.-212C>T (n.-212C>T) c.146C>T (p.Ala49Val) | gnomAD v4 |
| 1 | g.55039627A= | CA1167976277 | PCSK9 | c.-211A= (n.-211A=) c.147A= (p.Ala49=) | |
| 1 | g.55039627A>G | CA737022755 | PCSK9 | c.-211A>G (n.-211A>G) c.147A>G (p.Ala49=) | dbSNP |
| 1 | g.55039628G>A | CA2645836314 | PCSK9 | c.-210G>A (n.-210G>A) c.148G>A (p.Val50Met) | gnomAD v4 |
| 1 | g.55039628G>T | CA2645836315 | PCSK9 | c.-210G>T (n.-210G>T) c.148G>T (p.Val50Leu) | gnomAD v4 |
| 1 | g.55039629T>G | CA2645836316 | PCSK9 | c.-209T>G (n.-209T>G) c.149T>G (p.Val50Gly) | gnomAD v4 |
| 1 | g.55039630G>A | CA2645836317 | PCSK9 | c.-208G>A (n.-208G>A) c.150G>A (p.Val50=) | gnomAD v4 |
| 1 | g.55039630G>T | CA2645836318 | PCSK9 | c.-208G>T (n.-208G>T) c.150G>T (p.Val50=) | gnomAD v4 |
| 1 | g.55039633A>G | CA2645836319 | PCSK9 | c.-205A>G (n.-205A>G) c.153A>G (p.Arg51=) | gnomAD v4 |
| 1 | g.55039633A>T | CA2645836320 | PCSK9 | c.-205A>T (n.-205A>T) c.153A>T (p.Arg51Ser) | gnomAD v4 |
| 1 | g.55039634C>A | CA2645836324 | PCSK9 | c.-204C>A (n.-204C>A) c.154C>A (p.Leu52Met) | gnomAD v4 |
| 1 | g.55039634C= | CA1167976278 | PCSK9 | c.-204C= (n.-204C=) c.154C= (p.Leu52=) | |
| 1 | g.55039634C>G | CA2645836322 | PCSK9 | c.-204C>G (n.-204C>G) c.154C>G (p.Leu52Val) | gnomAD v4 |
| 1 | g.55039634C>T | CA1167976279 | PCSK9 | c.-204C>T (n.-204C>T) c.154C>T (p.Leu52=) | dbSNP gnomAD v4 |
| 1 | g.55039636G>T | CA2645836327 | PCSK9 | c.-202G>T (n.-202G>T) c.156G>T (p.Leu52=) | gnomAD v4 |
| 1 | g.55039637G>A | CA2645836329 | PCSK9 | c.-201G>A (n.-201G>A) c.157G>A (p.Ala53Thr) | gnomAD v4 |
| 1 | g.55039637G>T | CA2645836331 | PCSK9 | c.-201G>T (n.-201G>T) c.157G>T (p.Ala53Ser) | gnomAD v4 |
| 1 | g.55039638C>A | CA10611283 | PCSK9 | c.-200C>A (n.-200C>A) c.158C>A (p.Ala53Asp) | ClinVar dbSNP gnomAD v4 |
| 1 | g.55039638C= | CA1167976280 | PCSK9 | c.-200C= (n.-200C=) c.158C= (p.Ala53=) | |
| 1 | g.55039638C>T | CA2645836338 | PCSK9 | c.-200C>T (n.-200C>T) c.158C>T (p.Ala53Val) | gnomAD v4 |
| 1 | g.55039639T>A | CA2645836339 | PCSK9 | c.-199T>A (n.-199T>A) c.159T>A (p.Ala53=) | gnomAD v4 |
| 1 | g.55039639T>C | CA1001927801 | PCSK9 | c.-199T>C (n.-199T>C) c.159T>C (p.Ala53=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.55039639T= | CA1167976281 | PCSK9 | c.-199T= (n.-199T=) c.159T= (p.Ala53=) | |
| 1 | g.55039640C>A | CA2645836340 | PCSK9 | c.-198C>A (n.-198C>A) c.160C>A (p.Arg54=) | gnomAD v4 |
| 1 | g.55039640C= | CA1167976282 | PCSK9 | c.-198C= (n.-198C=) c.160C= (p.Arg54=) | |
| 1 | g.55039640C>T | CA737022761 | PCSK9 | c.-198C>T (n.-198C>T) c.160C>T (p.Arg54Trp) | dbSNP gnomAD v4 |
| 1 | g.55039641G>A | CA1001927806 | PCSK9 | c.-197G>A (n.-197G>A) c.161G>A (p.Arg54Gln) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.55039641G>C | CA22791398 | PCSK9 | c.-197G>C (n.-197G>C) c.161G>C (p.Arg54Pro) | dbSNP gnomAD v4 |
| 1 | g.55039641G= | CA1167976283 | PCSK9 | c.-197G= (n.-197G=) c.161G= (p.Arg54=) | |
| 1 | g.55039641G>T | CA2558301086 | PCSK9 | c.-197G>T (n.-197G>T) c.161G>T (p.Arg54Leu) | gnomAD v4 |
| 1 | g.55039642G>T | CA2645836346 | PCSK9 | c.-196G>T (n.-196G>T) c.162G>T (p.Arg54=) | gnomAD v4 |
| 1 | g.55039643G>A | CA2645836347 | PCSK9 | c.-195G>A (n.-195G>A) c.163G>A (p.Ala55Thr) | gnomAD v4 |
| 1 | g.55039644C>A | CA2645836349 | PCSK9 | c.-194C>A (n.-194C>A) c.164C>A (p.Ala55Glu) | gnomAD v4 |
| 1 | g.55039644C>T | CA2645836350 | PCSK9 | c.-194C>T (n.-194C>T) c.164C>T (p.Ala55Val) | gnomAD v4 |
| 1 | g.55039645G>A | CA2645836352 | PCSK9 | c.-193G>A (n.-193G>A) c.165G>A (p.Ala55=) | gnomAD v4 |
| 1 | g.55039646G>A | CA2645836353 | PCSK9 | c.-192G>A (n.-192G>A) c.166G>A (p.Gly56Ser) | gnomAD v4 |
| 1 | g.55039646G>T | CA2645836354 | PCSK9 | c.-192G>T (n.-192G>T) c.166G>T (p.Gly56Cys) | gnomAD v4 |
| 1 | g.55039647G>A | CA2645836356 | PCSK9 | c.-191G>A (n.-191G>A) c.167G>A (p.Gly56Asp) | gnomAD v4 |
| 1 | g.55039648C>T | CA2645836357 | PCSK9 | c.-190C>T (n.-190C>T) c.168C>T (p.Gly56=) | gnomAD v4 |
| 1 | g.55039649C>A | CA523275362 | PCSK9 | c.-189C>A (n.-189C>A) c.169C>A (p.Arg57=) | dbSNP gnomAD v2 |
| 1 | g.55039649C= | CA1167976284 | PCSK9 | c.-189C= (n.-189C=) c.169C= (p.Arg57=) | |
| 1 | g.55039649C>G | CA2645836359 | PCSK9 | c.-189C>G (n.-189C>G) c.169C>G (p.Arg57Gly) | gnomAD v4 |
| 1 | g.55039649C>T | CA2645836360 | PCSK9 | c.-189C>T (n.-189C>T) c.169C>T (p.Arg57Trp) | gnomAD v4 |
| 1 | g.55039650G>C | CA2645836361 | PCSK9 | c.-188G>C (n.-188G>C) c.170G>C (p.Arg57Pro) | gnomAD v4 |
| 1 | g.55039650G>T | CA2645836363 | PCSK9 | c.-188G>T (n.-188G>T) c.170G>T (p.Arg57Leu) | gnomAD v4 |
| 1 | g.55039651G>A | CA1001927807 | PCSK9 | c.-187G>A (n.-187G>A) c.171G>A (p.Arg57=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.55039651G= | CA1167976285 | PCSK9 | c.-187G= (n.-187G=) c.171G= (p.Arg57=) | |
| 1 | g.55039651G>T | CA2645836365 | PCSK9 | c.-187G>T (n.-187G>T) c.171G>T (p.Arg57=) | gnomAD v4 |
| 1 | g.55039652G>C | CA2645836366 | PCSK9 | c.-186G>C (n.-186G>C) c.172G>C (p.Asp58His) | gnomAD v4 |
| 1 | g.55039652G>T | CA2645836367 | PCSK9 | c.-186G>T (n.-186G>T) c.172G>T (p.Asp58Tyr) | gnomAD v4 |
| 1 | g.55039653A= | CA1167976286 | PCSK9 | c.-185A= (n.-185A=) c.173A= (p.Asp58=) | |
| 1 | g.55039653A>G | CA10611285 | PCSK9 | c.-185A>G (n.-185A>G) c.173A>G (p.Asp58Gly) | ClinVar dbSNP |
| 1 | g.55039654C>T | CA2645836369 | PCSK9 | c.-184C>T (n.-184C>T) c.174C>T (p.Asp58=) | gnomAD v4 |
| 1 | g.55039655G>A | CA2645836374 | PCSK9 | c.-183G>A (n.-183G>A) c.175G>A (p.Ala59Thr) | gnomAD v4 |
| 1 | g.55039655G= | CA1167976287 | PCSK9 | c.-183G= (n.-183G=) c.175G= (p.Ala59=) | |
| 1 | g.55039655G>T | CA1167976288 | PCSK9 | c.-183G>T (n.-183G>T) c.175G>T (p.Ala59Ser) | dbSNP gnomAD v4 |
| 1 | g.55039655_55039656insGTG | CA2645836373 | PCSK9 | c.-183_-182insGTG (n.-183_-182insGTG) c.175_176insGTG (p.Asp58_Ala59insGly) | gnomAD v4 |
| 1 | g.55039656del | CA2645836375 | PCSK9 | c.-182del (n.-182del) c.176del (p.Ala59GlyfsTer?) | gnomAD v4 |
| 1 | g.55039656C>A | CA2645836376 | PCSK9 | c.-182C>A (n.-182C>A) c.176C>A (p.Ala59Glu) | gnomAD v4 |
| 1 | g.55039656C>T | CA2645836380 | PCSK9 | c.-182C>T (n.-182C>T) c.176C>T (p.Ala59Val) | gnomAD v4 |
| 1 | g.55039657G>A | CA22791420 | PCSK9 | c.-181G>A (n.-181G>A) c.177G>A (p.Ala59=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.55039657G= | CA1167976289 | PCSK9 | c.-181G= (n.-181G=) c.177G= (p.Ala59=) | |
| 1 | g.55039657G>T | CA2645836385 | PCSK9 | c.-181G>T (n.-181G>T) c.177G>T (p.Ala59=) | gnomAD v4 |
| 1 | g.55039658T>A | CA2645836391 | PCSK9 | c.-180T>A (n.-180T>A) c.178T>A (p.Ser60Thr) | gnomAD v4 |
| 1 | g.55039658T>G | CA10610491 | PCSK9 | c.-180T>G (n.-180T>G) c.178T>G (p.Ser60Ala) | ClinVar dbSNP gnomAD v4 |
| 1 | g.55039658T= | CA1167976290 | PCSK9 | c.-180T= (n.-180T=) c.178T= (p.Ser60=) | |
| 1 | g.55039658_55039659insG | CA2645836397 | PCSK9 | c.-180_-179insG (n.-180_-179insG) c.178_179insG (p.Ser60CysfsTer23) | gnomAD v4 |
| 1 | g.55039659C>A | CA22791464 | PCSK9 | c.-179C>A (n.-179C>A) c.179C>A (p.Ser60Ter) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.55039659C= | CA1146313662 | PCSK9 | c.-179C= (n.-179C=) c.179C= (p.Ser60=) | |
| 1 | g.55039659C>G | CA2645836402 | PCSK9 | c.-179C>G (n.-179C>G) c.179C>G (p.Ser60Trp) | gnomAD v4 |
| 1 | g.55039659C>T | CA1167976291 | PCSK9 | c.-179C>T (n.-179C>T) c.179C>T (p.Ser60Leu) | dbSNP gnomAD v4 |
| 1 | g.55039660G>A | CA22791471 | PCSK9 | c.-178G>A (n.-178G>A) c.180G>A (p.Ser60=) | dbSNP gnomAD v4 |
| 1 | g.55039660G>C | CA22791470 | PCSK9 | c.-178G>C (n.-178G>C) c.180G>C (p.Ser60=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.55039660G= | CA1167976292 | PCSK9 | c.-178G= (n.-178G=) c.180G= (p.Ser60=) | |
| 1 | g.55039660G>T | CA2645836405 | PCSK9 | c.-178G>T (n.-178G>T) c.180G>T (p.Ser60=) | gnomAD v4 |
| 1 | g.55039661T>C | CA2645836408 | PCSK9 | c.-177T>C (n.-177T>C) c.181T>C (p.Leu61=) | gnomAD v4 |
| 1 | g.55039661T>G | CA2645836409 | PCSK9 | c.-177T>G (n.-177T>G) c.181T>G (p.Leu61Val) | gnomAD v4 |
| 1 | g.55039662T>C | CA1001927811 | PCSK9 | c.-176T>C (n.-176T>C) c.182T>C (p.Leu61Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.55039662T>G | CA1001927814 | PCSK9 | c.-176T>G (n.-176T>G) c.182T>G (p.Leu61Trp) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.55039662T= | CA1167976293 | PCSK9 | c.-176T= (n.-176T=) c.182T= (p.Leu61=) | |
| 1 | g.55039663G>A | CA2645836412 | PCSK9 | c.-175G>A (n.-175G>A) c.183G>A (p.Leu61=) | gnomAD v4 |
| 1 | g.55039664C>A | CA2645836415 | PCSK9 | c.-174C>A (n.-174C>A) c.184C>A (p.Gln62Lys) | gnomAD v4 |
| 1 | g.55039664C>T | CA2645836416 | PCSK9 | c.-174C>T (n.-174C>T) c.184C>T (p.Gln62Ter) | gnomAD v4 |
| 1 | g.55039665A>C | CA2740140190 | PCSK9 | c.-173A>C (n.-173A>C) c.185A>C (p.Gln62Pro) | |
| 1 | g.55039665A>G | CA2645836417 | PCSK9 | c.-173A>G (n.-173A>G) c.185A>G (p.Gln62Arg) | gnomAD v4 |
| 1 | g.55039665A>T | CA2645836418 | PCSK9 | c.-173A>T (n.-173A>T) c.185A>T (p.Gln62Leu) | gnomAD v4 |
| 1 | g.55039666G>A | CA2645836420 | PCSK9 | c.-172G>A (n.-172G>A) c.186G>A (p.Gln62=) | gnomAD v4 |
| 1 | g.55039666G>T | CA2645836421 | PCSK9 | c.-172G>T (n.-172G>T) c.186G>T (p.Gln62His) | gnomAD v4 |
| 1 | g.55039667C>A | CA523275363 | PCSK9 | c.-171C>A (n.-171C>A) c.187C>A (p.Gln63Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.55039667C= | CA1167976294 | PCSK9 | c.-171C= (n.-171C=) c.187C= (p.Gln63=) | |
| 1 | g.55039667C>T | CA2645836423 | PCSK9 | c.-171C>T (n.-171C>T) c.187C>T (p.Gln63Ter) | gnomAD v4 |
| 1 | g.55039668A= | CA1167976295 | PCSK9 | c.-170A= (n.-170A=) c.188A= (p.Gln63=) | |
| 1 | g.55039668A>C | CA523275364 | PCSK9 | c.-170A>C (n.-170A>C) c.188A>C (p.Gln63Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.55039668A>T | CA2645836427 | PCSK9 | c.-170A>T (n.-170A>T) c.188A>T (p.Gln63Leu) | gnomAD v4 |
| 1 | g.55039669G>C | CA523275365 | PCSK9 | c.-169G>C (n.-169G>C) c.189G>C (p.Gln63His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.55039669G= | CA1167976296 | PCSK9 | c.-169G= (n.-169G=) c.189G= (p.Gln63=) | |
| 1 | g.55039669G>T | CA22791473 | PCSK9 | c.-169G>T (n.-169G>T) c.189G>T (p.Gln63His) | dbSNP gnomAD v4 |
| 1 | g.55039670C>A | CA645509080 | PCSK9 | c.-168C>A (n.-168C>A) c.190C>A (p.Arg64=) | ClinVar dbSNP gnomAD v4 |
| 1 | g.55039670C= | CA1167976297 | PCSK9 | c.-168C= (n.-168C=) c.190C= (p.Arg64=) | |
| 1 | g.55039670C>T | CA2645836443 | PCSK9 | c.-168C>T (n.-168C>T) c.190C>T (p.Arg64Trp) | gnomAD v4 |
| 1 | g.55039671_55039677dup | CA22791481 | PCSK9 | c.-167_-161dup (n.-167_-161dup) c.191_197dup (p.Gln70SerfsTer15) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.55039671G>A | CA1167976299 | PCSK9 | c.-167G>A (n.-167G>A) c.191G>A (p.Arg64Gln) | dbSNP gnomAD v4 |
| 1 | g.55039671G= | CA1167976298 | PCSK9 | c.-167G= (n.-167G=) c.191G= (p.Arg64=) | |
| 1 | g.55039671G>T | CA2645836446 | PCSK9 | c.-167G>T (n.-167G>T) c.191G>T (p.Arg64Leu) | gnomAD v4 |
| 1 | g.55039672G>A | CA2645836449 | PCSK9 | c.-166G>A (n.-166G>A) c.192G>A (p.Arg64=) | gnomAD v4 |
| 1 | g.55039672G>C | CA2743685333 | PCSK9 | c.-166G>C (n.-166G>C) c.192G>C (p.Arg64=) | |
| 1 | g.55039672G>T | CA2645836450 | PCSK9 | c.-166G>T (n.-166G>T) c.192G>T (p.Arg64=) | gnomAD v4 |
| 1 | g.55039681_55039687dup | CA2645836448 | PCSK9 | c.-157_-151dup (n.-157_-151dup) c.201_207dup (p.Gln70SerfsTer15) | gnomAD v4 |
| 1 | g.55039673C>A | CA2645836451 | PCSK9 | c.-165C>A (n.-165C>A) c.193C>A (p.Leu65Ile) | gnomAD v4 |
| 1 | g.55039673C>T | CA2645836453 | PCSK9 | c.-165C>T (n.-165C>T) c.193C>T (p.Leu65Phe) | gnomAD v4 |
| 1 | g.55039674T>C | CA2645836454 | PCSK9 | c.-164T>C (n.-164T>C) c.194T>C (p.Leu65Pro) | gnomAD v4 |
| 1 | g.55039675C= | CA1167976300 | PCSK9 | c.-163C= (n.-163C=) c.195C= (p.Leu65=) | |
| 1 | g.55039675C>G | CA22791489 | PCSK9 | c.-163C>G (n.-163C>G) c.195C>G (p.Leu65=) | dbSNP gnomAD v4 |
| 1 | g.55039675C>T | CA737022783 | PCSK9 | c.-163C>T (n.-163C>T) c.195C>T (p.Leu65=) | dbSNP gnomAD v3 gnomAD v4 |