Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.55039805_55039807delCA2645836850PCSK9c.-33_-31del (n.-33_-31del)
c.325_327del (p.Leu109del)
 gnomAD v4
1g.55039803T>CCA2645836869PCSK9c.-35T>C (n.-35T>C)
c.323T>C (p.Leu108Pro)
 dbSNP gnomAD v4
1g.55039804C>ACA2645836871PCSK9c.-34C>A (n.-34C>A)
c.324C>A (p.Leu108=)
 gnomAD v4
1g.55039804C=CA1147990120PCSK9c.-34C= (n.-34C=)
c.324C= (p.Leu108=)
1g.55039804C>TCA041549PCSK9c.-34C>T (n.-34C>T)
c.324C>T (p.Leu108=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.55039805C>ACA523275395PCSK9c.-33C>A (n.-33C>A)
c.325C>A (p.Leu109Ile)
 dbSNP gnomAD v2 gnomAD v4
1g.55039805C=CA1167976365PCSK9c.-33C= (n.-33C=)
c.325C= (p.Leu109=)
1g.55039805C>GCA523275396PCSK9c.-33C>G (n.-33C>G)
c.325C>G (p.Leu109Val)
 dbSNP gnomAD v2 gnomAD v4
1g.55039805C>TCA2645836880PCSK9c.-33C>T (n.-33C>T)
c.325C>T (p.Leu109Phe)
 gnomAD v4
1g.55039806T>CCA041497PCSK9c.-32T>C (n.-32T>C)
c.326T>C (p.Leu109Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.55039806T=CA1167976366PCSK9c.-32T= (n.-32T=)
c.326T= (p.Leu109=)
1g.55039807C>ACA2529528035PCSK9c.-31C>A (n.-31C>A)
c.327C>A (p.Leu109=)
 gnomAD v4
1g.55039807C>GCA2645836887PCSK9c.-31C>G (n.-31C>G)
c.327C>G (p.Leu109=)
 gnomAD v4
1g.55039807C>TCA2645836888PCSK9c.-31C>T (n.-31C>T)
c.327C>T (p.Leu109=)
 gnomAD v4
1g.55039808G>ACA523275397PCSK9c.-30G>A (n.-30G>A)
c.328G>A (p.Ala110Thr)
 dbSNP gnomAD v2 gnomAD v4
1g.55039808G>CCA041380PCSK9c.-30G>C (n.-30G>C)
c.328G>C (p.Ala110Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.55039808G=CA1149060560PCSK9c.-30G= (n.-30G=)
c.328G= (p.Ala110=)
1g.55039808G>TCA2645836891PCSK9c.-30G>T (n.-30G>T)
c.328G>T (p.Ala110Ser)
 gnomAD v4
1g.55039809C>ACA2645836892PCSK9c.-29C>A (n.-29C>A)
c.329C>A (p.Ala110Asp)
 gnomAD v4
1g.55039809C=CA1167976367PCSK9c.-29C= (n.-29C=)
c.329C= (p.Ala110=)
1g.55039809C>TCA523275398PCSK9c.-29C>T (n.-29C>T)
c.329C>T (p.Ala110Val)
 dbSNP gnomAD v2 gnomAD v4
1g.55039810C>ACA2645836893PCSK9c.-28C>A (n.-28C>A)
c.330C>A (p.Ala110=)
 gnomAD v4
1g.55039810C=CA1144133744PCSK9c.-28C= (n.-28C=)
c.330C= (p.Ala110=)
1g.55039810C>GCA22791716PCSK9c.-28C>G (n.-28C>G)
c.330C>G (p.Ala110=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.55039810C>TCA2645836894PCSK9c.-28C>T (n.-28C>T)
c.330C>T (p.Ala110=)
 gnomAD v4
1g.55039811A>GCA2645836895PCSK9c.-27A>G (n.-27A>G)
c.331A>G (p.Arg111Gly)
 gnomAD v4
1g.55039812G>ACA041091PCSK9c.-26G>A (n.-26G>A)
c.332G>A (p.Arg111Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.55039812G=CA1140475623PCSK9c.-26G= (n.-26G=)
c.332G= (p.Arg111=)
1g.55039812G>TCA2645836901PCSK9c.-26G>T (n.-26G>T)
c.332G>T (p.Arg111Met)
 gnomAD v4
1g.55039814delCA2743685336PCSK9c.-24del (n.-24del)
c.334del (p.Thr112GlnfsTer?)
1g.55039814A>GCA2645836903PCSK9c.-24A>G (n.-24A>G)
c.334A>G (p.Thr112Ala)
 gnomAD v4
1g.55039815C=CA1167976368PCSK9c.-23C= (n.-23C=)
c.335C= (p.Thr112=)
1g.55039815C>GCA2645836904PCSK9c.-23C>G (n.-23C>G)
c.335C>G (p.Thr112Arg)
 gnomAD v4
1g.55039815C>TCA523275399PCSK9c.-23C>T (n.-23C>T)
c.335C>T (p.Thr112Ile)
 dbSNP gnomAD v2 gnomAD v4
1g.55039816A=CA1167976369PCSK9c.-22A= (n.-22A=)
c.336A= (p.Thr112=)
1g.55039816A>CCA523275400PCSK9c.-22A>C (n.-22A>C)
c.336A>C (p.Thr112=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.55039816A>GCA2645836910PCSK9c.-22A>G (n.-22A>G)
c.336A>G (p.Thr112=)
 gnomAD v4
1g.55039816A>TCA2645836911PCSK9c.-22A>T (n.-22A>T)
c.336A>T (p.Thr112=)
 gnomAD v4
1g.55039817G>ACA523275401PCSK9c.-21G>A (n.-21G>A)
c.337G>A (p.Ala113Thr)
 dbSNP gnomAD v2 gnomAD v4
1g.55039817G=CA1167976370PCSK9c.-21G= (n.-21G=)
c.337G= (p.Ala113=)
1g.55039817G>TCA2645836917PCSK9c.-21G>T (n.-21G>T)
c.337G>T (p.Ala113Ser)
 gnomAD v4
1g.55039818delCA2574381077PCSK9c.-20del (n.-20del)
c.338del (p.Ala113GlufsTer?)
1g.55039818C>ACA2645836920PCSK9c.-20C>A (n.-20C>A)
c.338C>A (p.Ala113Glu)
 gnomAD v4
1g.55039818C>TCA2645836921PCSK9c.-20C>T (n.-20C>T)
c.338C>T (p.Ala113Val)
 gnomAD v4
1g.55039819A>CCA2645836924PCSK9c.-19A>C (n.-19A>C)
c.339A>C (p.Ala113=)
 gnomAD v4
1g.55039820A>GCA2645836926PCSK9c.-18A>G (n.-18A>G)
c.340A>G (p.Thr114Ala)
 gnomAD v4
1g.55039821C>ACA2645836929PCSK9c.-17C>A (n.-17C>A)
c.341C>A (p.Thr114Asn)
 gnomAD v4
1g.55039821C=CA1167976371PCSK9c.-17C= (n.-17C=)
c.341C= (p.Thr114=)
1g.55039821C>TCA523275402PCSK9c.-17C>T (n.-17C>T)
c.341C>T (p.Thr114Ile)
 dbSNP gnomAD v2
1g.55039822C>ACA2645836931PCSK9c.-16C>A (n.-16C>A)
c.342C>A (p.Thr114=)
 gnomAD v4
1g.55039822C=CA1167976372PCSK9c.-16C= (n.-16C=)
c.342C= (p.Thr114=)
1g.55039822C>TCA22791752PCSK9c.-16C>T (n.-16C>T)
c.342C>T (p.Thr114=)
 dbSNP gnomAD v4
1g.55039823delCA2645836934PCSK9c.-15del (n.-15del)
c.343del (p.Ser115LeufsTer?)
 gnomAD v4
1g.55039823T>ACA2645836937PCSK9c.-15T>A (n.-15T>A)
c.343T>A (p.Ser115Thr)
 gnomAD v4
1g.55039823T>CCA2645836935PCSK9c.-15T>C (n.-15T>C)
c.343T>C (p.Ser115Pro)
 gnomAD v4
1g.55039824C>ACA2645836939PCSK9c.-14C>A (n.-14C>A)
c.344C>A (p.Ser115Tyr)
 gnomAD v4
1g.55039824C>TCA2645836940PCSK9c.-14C>T (n.-14C>T)
c.344C>T (p.Ser115Phe)
 gnomAD v4
1g.55039825T>CCA737022971PCSK9c.-13T>C (n.-13T>C)
c.345T>C (p.Ser115=)
 dbSNP gnomAD v3 gnomAD v4
1g.55039825T=CA1167976373PCSK9c.-13T= (n.-13T=)
c.345T= (p.Ser115=)
1g.55039826C>ACA22791757PCSK9c.-12C>A (n.-12C>A)
c.346C>A (p.Pro116Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.55039826C=CA1142547596PCSK9c.-12C= (n.-12C=)
c.346C= (p.Pro116=)
1g.55039826C>GCA1001927918PCSK9c.-12C>G (n.-12C>G)
c.346C>G (p.Pro116Ala)
 dbSNP gnomAD v3 gnomAD v4
1g.55039826C>TCA2645836945PCSK9c.-12C>T (n.-12C>T)
c.346C>T (p.Pro116Ser)
 gnomAD v4
1g.55039829delCA2645836942PCSK9c.-9del (n.-9del)
c.349del (p.Leu117TrpfsTer?)
 gnomAD v4
1g.55039827C>ACA523275403PCSK9c.-11C>A (n.-11C>A)
c.347C>A (p.Pro116His)
 dbSNP gnomAD v2 gnomAD v4
1g.55039827C=CA1167976374PCSK9c.-11C= (n.-11C=)
c.347C= (p.Pro116=)
1g.55039827C>GCA2645836947PCSK9c.-11C>G (n.-11C>G)
c.347C>G (p.Pro116Arg)
 gnomAD v4
1g.55039827C>TCA523275404PCSK9c.-11C>T (n.-11C>T)
c.347C>T (p.Pro116Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.55039828C>ACA2645836949PCSK9c.-10C>A (n.-10C>A)
c.348C>A (p.Pro116=)
 gnomAD v4
1g.55039828C=CA1167976375PCSK9c.-10C= (n.-10C=)
c.348C= (p.Pro116=)
1g.55039828C>TCA523275405PCSK9c.-10C>T (n.-10C>T)
c.348C>T (p.Pro116=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.55039829C>ACA2645836957PCSK9c.-9C>A (n.-9C>A)
c.349C>A (p.Leu117Met)
 gnomAD v4
1g.55039829C=CA1167976376PCSK9c.-9C= (n.-9C=)
c.349C= (p.Leu117=)
1g.55039829C>TCA523275406PCSK9c.-9C>T (n.-9C>T)
c.349C>T (p.Leu117=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.55039830delCA2825000977PCSK9c.-8del (n.-8del)
c.350del (p.Leu117ArgfsTer?)
 ClinVar
1g.55039830T>ACA2645836967PCSK9c.-8T>A (n.-8T>A)
c.350T>A (p.Leu117Gln)
 gnomAD v4
1g.55039830T>CCA10588858PCSK9c.-8T>C (n.-8T>C)
c.350T>C (p.Leu117Pro)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.55039830T=CA1167976377PCSK9c.-8T= (n.-8T=)
c.350T= (p.Leu117=)
1g.55039831G>ACA1001927927PCSK9c.-7G>A (n.-7G>A)
c.351G>A (p.Leu117=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.55039831G=CA1167976378PCSK9c.-7G= (n.-7G=)
c.351G= (p.Leu117=)
1g.55039831G>TCA2645836970PCSK9c.-7G>T (n.-7G>T)
c.351G>T (p.Leu117=)
 gnomAD v4
1g.55039832G>ACA2645836971PCSK9c.-6G>A (n.-6G>A)
c.352G>A (p.Ala118Thr)
 gnomAD v4
1g.55039833C>ACA2645836973PCSK9c.-5C>A (n.-5C>A)
c.353C>A (p.Ala118Asp)
 gnomAD v4
1g.55039833C>TCA2645836974PCSK9c.-5C>T (n.-5C>T)
c.353C>T (p.Ala118Val)
 gnomAD v4
1g.55039834C>ACA523275407PCSK9c.-4C>A (n.-4C>A)
c.354C>A (p.Ala118=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.55039834C=CA1167976379PCSK9c.-4C= (n.-4C=)
c.354C= (p.Ala118=)
1g.55039834C>GCA2645836976PCSK9c.-4C>G (n.-4C>G)
c.354C>G (p.Ala118=)
 gnomAD v4
1g.55039835C>ACA2645836980PCSK9c.-3C>A (n.-3C>A)
c.355C>A (p.Leu119Ile)
 gnomAD v4
1g.55039835C>GCA2825000978PCSK9c.-3C>G (n.-3C>G)
c.355C>G (p.Leu119Val)
 ClinVar
1g.55039836T>ACA2645836982PCSK9c.-2T>A (n.-2T>A)
c.356T>A (p.Leu119His)
 gnomAD v4
1g.55039836T>CCA2645836983PCSK9c.-2T>C (n.-2T>C)
c.356T>C (p.Leu119Pro)
 gnomAD v4
1g.55039837C>ACA2645836985PCSK9c.-1C>A (n.-1C>A)
c.357C>A (p.Leu119=)
 gnomAD v4
1g.55039837C>GCA2645836987PCSK9c.-1C>G (n.-1C>G)
c.357C>G (p.Leu119=)
 gnomAD v4
1g.55039837C>TCA2645836988PCSK9c.-1C>T (n.-1C>T)
c.357C>T (p.Leu119=)
 gnomAD v4
1g.55039838A>CCA340482581PCSK9c.1A>C (p.Met1Leu)
c.358A>C (p.Met120Leu)
1g.55039838A>GCA340482579PCSK9c.1A>G (p.Met1Val)
c.358A>G (p.Met120Val)
 gnomAD v4 COSMIC COSMIC
1g.55039838A>TCA340482580PCSK9c.1A>T (p.Met1Leu)
c.358A>T (p.Met120Leu)
 gnomAD v4
1g.55039839T>ACA340482582PCSK9c.2T>A (p.Met1Lys)
c.359T>A (p.Met120Lys)
1g.55039839T>CCA340482583PCSK9c.2T>C (p.Met1Thr)
c.359T>C (p.Met120Thr)
 dbSNP gnomAD v2 gnomAD v4
1g.55039839T>GCA340482584PCSK9c.2T>G (p.Met1Arg)
c.359T>G (p.Met120Arg)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.55039839T=CA1167976380PCSK9c.2T= (p.Met1=)
c.359T= (p.Met120=)
1g.55039840G>ACA340482585PCSK9c.3G>A (p.Met1Ile)
c.360G>A (p.Met120Ile)
1g.55039840G>CCA340482586PCSK9c.3G>C (p.Met1Ile)
c.360G>C (p.Met120Ile)
1g.55039840G>TCA340482587PCSK9c.3G>T (p.Met1Ile)
c.360G>T (p.Met120Ile)
 gnomAD v4
1g.55039841G>ACA340482588PCSK9c.4G>A (p.Gly2Ser)
c.361G>A (p.Gly121Ser)
 ClinVar gnomAD v4
1g.55039841G>CCA340482589PCSK9c.4G>C (p.Gly2Arg)
c.361G>C (p.Gly121Arg)
1g.55039841G>TCA340482590PCSK9c.4G>T (p.Gly2Cys)
c.361G>T (p.Gly121Cys)
 gnomAD v4
1g.55039842G>ACA22791777PCSK9c.5G>A (p.Gly2Asp)
c.362G>A (p.Gly121Asp)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.55039842G>CCA340482592PCSK9c.5G>C (p.Gly2Ala)
c.362G>C (p.Gly121Ala)
1g.55039842G=CA1167976381PCSK9c.5G= (p.Gly2=)
c.362G= (p.Gly121=)
1g.55039842G>TCA340482591PCSK9c.5G>T (p.Gly2Val)
c.362G>T (p.Gly121Val)
 gnomAD v4
1g.55039843C>ACA417957221PCSK9c.6C>A (p.Gly2=)
c.363C>A (p.Gly121=)
 gnomAD v4
1g.55039843C=CA1167976382PCSK9c.6C= (p.Gly2=)
c.363C= (p.Gly121=)
1g.55039843C>GCA417957222PCSK9c.6C>G (p.Gly2=)
c.363C>G (p.Gly121=)
1g.55039843C>TCA417957223PCSK9c.6C>T (p.Gly2=)
c.363C>T (p.Gly121=)
 ClinVar dbSNP gnomAD v4
1g.55039844A>CCA340482593PCSK9c.7A>C (p.Thr3Pro)
c.364A>C (p.Thr122Pro)
1g.55039844A>GCA340482594PCSK9c.7A>G (p.Thr3Ala)
c.364A>G (p.Thr122Ala)
1g.55039844A>TCA340482595PCSK9c.7A>T (p.Thr3Ser)
c.364A>T (p.Thr122Ser)
1g.55039845C>ACA22791778PCSK9c.8C>A (p.Thr3Asn)
c.365C>A (p.Thr122Asn)
 ClinVar dbSNP
1g.55039845C=CA1167976383PCSK9c.8C= (p.Thr3=)
c.365C= (p.Thr122=)
1g.55039845C>GCA340482596PCSK9c.8C>G (p.Thr3Ser)
c.365C>G (p.Thr122Ser)
1g.55039845C>TCA340482597PCSK9c.8C>T (p.Thr3Ile)
c.365C>T (p.Thr122Ile)
 ClinVar dbSNP gnomAD v4
1g.55039846C>ACA417957226PCSK9c.9C>A (p.Thr3=)
c.366C>A (p.Thr122=)
1g.55039846C=CA1167976384PCSK9c.9C= (p.Thr3=)
c.366C= (p.Thr122=)
1g.55039846C>GCA417957228PCSK9c.9C>G (p.Thr3=)
c.366C>G (p.Thr122=)
 gnomAD v4
1g.55039846C>TCA417957229PCSK9c.9C>T (p.Thr3=)
c.366C>T (p.Thr122=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.55039847G>ACA035116PCSK9c.10G>A (p.Val4Ile)
c.367G>A (p.Val123Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.55039847G>CCA340482598PCSK9c.10G>C (p.Val4Leu)
c.367G>C (p.Val123Leu)
 ClinVar dbSNP
1g.55039847G=CA1142864436PCSK9c.10G= (p.Val4=)
c.367G= (p.Val123=)
1g.55039847G>TCA035132PCSK9c.10G>T (p.Val4Phe)
c.367G>T (p.Val123Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.55039848T>ACA340482599PCSK9c.11T>A (p.Val4Asp)
c.368T>A (p.Val123Asp)
1g.55039848T>CCA340482600PCSK9c.11T>C (p.Val4Ala)
c.368T>C (p.Val123Ala)
1g.55039848T>GCA340482601PCSK9c.11T>G (p.Val4Gly)
c.368T>G (p.Val123Gly)
1g.55039848T=CA1167976385PCSK9c.11T= (p.Val4=)
c.368T= (p.Val123=)
1g.55039848_55039849insGCA737023026PCSK9c.11_12insG (p.Ser5GlnfsTer?)
c.368_369insG (p.Ser124GlnfsTer?)
 dbSNP
1g.55039849C>ACA417957231PCSK9c.12C>A (p.Val4=)
c.369C>A (p.Val123=)
 COSMIC COSMIC
1g.55039849C>GCA417957232PCSK9c.12C>G (p.Val4=)
c.369C>G (p.Val123=)
1g.55039849C>TCA417957233PCSK9c.12C>T (p.Val4=)
c.369C>T (p.Val123=)
 ClinVar gnomAD v4
1g.55039850A>CCA340482603PCSK9c.13A>C (p.Ser5Arg)
c.370A>C (p.Ser124Arg)
1g.55039850A>GCA340482604PCSK9c.13A>G (p.Ser5Gly)
c.370A>G (p.Ser124Gly)
 COSMIC COSMIC
1g.55039850A>TCA340482602PCSK9c.13A>T (p.Ser5Cys)
c.370A>T (p.Ser124Cys)
1g.55039851G>ACA340482605PCSK9c.14G>A (p.Ser5Asn)
c.371G>A (p.Ser124Asn)
 gnomAD v4
1g.55039851G>CCA340482606PCSK9c.14G>C (p.Ser5Thr)
c.371G>C (p.Ser124Thr)
 gnomAD v4
1g.55039851G>TCA340482607PCSK9c.14G>T (p.Ser5Ile)
c.371G>T (p.Ser124Ile)
 COSMIC COSMIC
1g.55039852C>ACA340482608PCSK9c.15C>A (p.Ser5Arg)
c.372C>A (p.Ser124Arg)
1g.55039852C>GCA340482609PCSK9c.15C>G (p.Ser5Arg)
c.372C>G (p.Ser124Arg)
1g.55039852C>TCA417957235PCSK9c.15C>T (p.Ser5=)
c.372C>T (p.Ser124=)
 gnomAD v4
1g.55039853T>ACA340482610PCSK9c.16T>A (p.Ser6Thr)
c.373T>A (p.Ser125Thr)
 gnomAD v4
1g.55039853T>CCA340482611PCSK9c.16T>C (p.Ser6Pro)
c.373T>C (p.Ser125Pro)
1g.55039853T>GCA340482612PCSK9c.16T>G (p.Ser6Ala)
c.373T>G (p.Ser125Ala)
1g.55039854C>ACA340482613PCSK9c.17C>A (p.Ser6Tyr)
c.374C>A (p.Ser125Tyr)
 gnomAD v4
1g.55039854C=CA1167976386PCSK9c.17C= (p.Ser6=)
c.374C= (p.Ser125=)
1g.55039854C>GCA340482614PCSK9c.17C>G (p.Ser6Cys)
c.374C>G (p.Ser125Cys)
1g.55039854C>TCA340482615PCSK9c.17C>T (p.Ser6Phe)
c.374C>T (p.Ser125Phe)
 ClinVar dbSNP
1g.55039855C>ACA417957236PCSK9c.18C>A (p.Ser6=)
c.375C>A (p.Ser125=)
 gnomAD v4
1g.55039855C>GCA417957238PCSK9c.18C>G (p.Ser6=)
c.375C>G (p.Ser125=)
1g.55039855C>TCA417957237PCSK9c.18C>T (p.Ser6=)
c.375C>T (p.Ser125=)
1g.55039856A=CA1167976387PCSK9c.19A= (p.Arg7=)
c.376A= (p.Arg126=)
1g.55039856A>CCA417957239PCSK9c.19A>C (p.Arg7=)
c.376A>C (p.Arg126=)
 gnomAD v4
1g.55039856A>GCA040190PCSK9c.19A>G (p.Arg7Gly)
c.376A>G (p.Arg126Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.55039856A>TCA340482616PCSK9c.19A>T (p.Arg7Trp)
c.376A>T (p.Arg126Trp)
1g.55039857G>ACA340482619PCSK9c.20G>A (p.Arg7Lys)
c.377G>A (p.Arg126Lys)
1g.55039857G>CCA340482618PCSK9c.20G>C (p.Arg7Thr)
c.377G>C (p.Arg126Thr)
1g.55039857G>TCA340482617PCSK9c.20G>T (p.Arg7Met)
c.377G>T (p.Arg126Met)
1g.55039858G>ACA417957241PCSK9c.21G>A (p.Arg7=)
c.378G>A (p.Arg126=)
 ClinVar dbSNP
1g.55039858G>CCA340482620PCSK9c.21G>C (p.Arg7Ser)
c.378G>C (p.Arg126Ser)
1g.55039858G>TCA340482621PCSK9c.21G>T (p.Arg7Ser)
c.378G>T (p.Arg126Ser)
1g.55039859C>ACA417957242PCSK9c.22C>A (p.Arg8=)
c.379C>A (p.Arg127=)
 gnomAD v4
1g.55039859C=CA1167976388PCSK9c.22C= (p.Arg8=)
c.379C= (p.Arg127=)
1g.55039859C>GCA340482622PCSK9c.22C>G (p.Arg8Gly)
c.379C>G (p.Arg127Gly)
1g.55039859C>TCA340482623PCSK9c.22C>T (p.Arg8Trp)
c.379C>T (p.Arg127Trp)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.55039860G>ACA22791797PCSK9c.23G>A (p.Arg8Gln)
c.380G>A (p.Arg127Gln)
 ClinVar dbSNP gnomAD v4
1g.55039860G>CCA340482624PCSK9c.23G>C (p.Arg8Pro)
c.380G>C (p.Arg127Pro)
 gnomAD v4
1g.55039860G=CA1167976389PCSK9c.23G= (p.Arg8=)
c.380G= (p.Arg127=)
1g.55039860G>TCA340482625PCSK9c.23G>T (p.Arg8Leu)
c.380G>T (p.Arg127Leu)
 dbSNP gnomAD v4
1g.55039861G>ACA417957243PCSK9c.24G>A (p.Arg8=)
c.381G>A (p.Arg127=)
 gnomAD v4
1g.55039861G>CCA417957244PCSK9c.24G>C (p.Arg8=)
c.381G>C (p.Arg127=)
1g.55039861G>TCA417957246PCSK9c.24G>T (p.Arg8=)
c.381G>T (p.Arg127=)
1g.55039862T>ACA340482626PCSK9c.25T>A (p.Ser9Thr)
c.382T>A (p.Ser128Thr)
1g.55039862T>CCA340482627PCSK9c.25T>C (p.Ser9Pro)
c.382T>C (p.Ser128Pro)
1g.55039862T>GCA340482628PCSK9c.25T>G (p.Ser9Ala)
c.382T>G (p.Ser128Ala)
1g.55039863C>ACA340482629PCSK9c.26C>A (p.Ser9Tyr)
c.383C>A (p.Ser128Tyr)
 gnomAD v4
1g.55039863C=CA1167976390PCSK9c.26C= (p.Ser9=)
c.383C= (p.Ser128=)
1g.55039863C>GCA340482630PCSK9c.26C>G (p.Ser9Cys)
c.383C>G (p.Ser128Cys)
1g.55039863C>TCA340482631PCSK9c.26C>T (p.Ser9Phe)
c.383C>T (p.Ser128Phe)
 dbSNP gnomAD v2
1g.55039864C>ACA417957247PCSK9c.27C>A (p.Ser9=)
c.384C>A (p.Ser128=)
 gnomAD v4
1g.55039864C=CA1146918415PCSK9c.27C= (p.Ser9=)
c.384C= (p.Ser128=)
1g.55039864C>GCA417957248PCSK9c.27C>G (p.Ser9=)
c.384C>G (p.Ser128=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.55039864C>TCA041172PCSK9c.27C>T (p.Ser9=)
c.384C>T (p.Ser128=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.55039865T>ACA340482634PCSK9c.28T>A (p.Trp10Arg)
c.385T>A (p.Trp129Arg)
 gnomAD v4 COSMIC COSMIC
1g.55039865T>CCA340482632PCSK9c.28T>C (p.Trp10Arg)
c.385T>C (p.Trp129Arg)
1g.55039865T>GCA340482633PCSK9c.28T>G (p.Trp10Gly)
c.385T>G (p.Trp129Gly)
1g.55039866G>ACA340482635PCSK9c.29G>A (p.Trp10Ter)
c.386G>A (p.Trp129Ter)
 gnomAD v4
1g.55039866G>CCA340482636PCSK9c.29G>C (p.Trp10Ser)
c.386G>C (p.Trp129Ser)
 gnomAD v4
1g.55039866G>TCA340482637PCSK9c.29G>T (p.Trp10Leu)
c.386G>T (p.Trp129Leu)
1g.55039867G>ACA340482638PCSK9c.30G>A (p.Trp10Ter)
c.387G>A (p.Trp129Ter)
 COSMIC COSMIC
1g.55039867G>CCA340482639PCSK9c.30G>C (p.Trp10Cys)
c.387G>C (p.Trp129Cys)
1g.55039867G>TCA340482640PCSK9c.30G>T (p.Trp10Cys)
c.387G>T (p.Trp129Cys)
1g.55039868T>ACA340482641PCSK9c.31T>A (p.Trp11Arg)
c.388T>A (p.Trp130Arg)
1g.55039868T>CCA340482642PCSK9c.31T>C (p.Trp11Arg)
c.388T>C (p.Trp130Arg)
1g.55039868T>GCA340482643PCSK9c.31T>G (p.Trp11Gly)
c.388T>G (p.Trp130Gly)
1g.55039869G>ACA340482644PCSK9c.32G>A (p.Trp11Ter)
c.389G>A (p.Trp130Ter)
 dbSNP gnomAD v2
1g.55039869G>CCA340482645PCSK9c.32G>C (p.Trp11Ser)
c.389G>C (p.Trp130Ser)
1g.55039869G=CA1167976391PCSK9c.32G= (p.Trp11=)
c.389G= (p.Trp130=)
1g.55039869G>TCA340482646PCSK9c.32G>T (p.Trp11Leu)
c.389G>T (p.Trp130Leu)
 gnomAD v4
1g.55039870G>ACA340482649PCSK9c.33G>A (p.Trp11Ter)
c.390G>A (p.Trp130Ter)
 dbSNP gnomAD v2 gnomAD v4
1g.55039870G>CCA340482648PCSK9c.33G>C (p.Trp11Cys)
c.390G>C (p.Trp130Cys)
1g.55039870G=CA1167976392PCSK9c.33G= (p.Trp11=)
c.390G= (p.Trp130=)
1g.55039870G>TCA340482647PCSK9c.33G>T (p.Trp11Cys)
c.390G>T (p.Trp130Cys)
1g.55039871C>ACA22791800PCSK9c.34C>A (p.Pro12Thr)
c.391C>A (p.Pro131Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.55039871C=CA1167976393PCSK9c.34C= (p.Pro12=)
c.391C= (p.Pro131=)
1g.55039871C>GCA340482650PCSK9c.34C>G (p.Pro12Ala)
c.391C>G (p.Pro131Ala)
1g.55039871C>TCA340482651PCSK9c.34C>T (p.Pro12Ser)
c.391C>T (p.Pro131Ser)
 gnomAD v4
1g.55039872C>ACA340482652PCSK9c.35C>A (p.Pro12Gln)
c.392C>A (p.Pro131Gln)
 gnomAD v4
1g.55039872C=CA1167976394PCSK9c.35C= (p.Pro12=)
c.392C= (p.Pro131=)
1g.55039872C>GCA340482653PCSK9c.35C>G (p.Pro12Arg)
c.392C>G (p.Pro131Arg)
1g.55039872C>TCA041578PCSK9c.35C>T (p.Pro12Leu)
c.392C>T (p.Pro131Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.55039873G>ACA417957253PCSK9c.36G>A (p.Pro12=)
c.393G>A (p.Pro131=)
 ClinVar dbSNP gnomAD v4
1g.55039873G>CCA417957254PCSK9c.36G>C (p.Pro12=)
c.393G>C (p.Pro131=)
1g.55039873G=CA1167976395PCSK9c.36G= (p.Pro12=)
c.393G= (p.Pro131=)
1g.55039873G>TCA417957255PCSK9c.36G>T (p.Pro12=)
c.393G>T (p.Pro131=)
 gnomAD v4
1g.55039874C>ACA340482654PCSK9c.37C>A (p.Leu13Met)
c.394C>A (p.Leu132Met)
 gnomAD v4
1g.55039874C>GCA340482655PCSK9c.37C>G (p.Leu13Val)
c.394C>G (p.Leu132Val)
1g.55039874C>TCA417957256PCSK9c.37C>T (p.Leu13=)
c.394C>T (p.Leu132=)
1g.55039875T>ACA340482656PCSK9c.38T>A (p.Leu13Gln)
c.395T>A (p.Leu132Gln)
1g.55039875T>CCA340482657PCSK9c.38T>C (p.Leu13Pro)
c.395T>C (p.Leu132Pro)
1g.55039875T>GCA340482658PCSK9c.38T>G (p.Leu13Arg)
c.395T>G (p.Leu132Arg)
1g.55039876G>ACA417957257PCSK9c.39G>A (p.Leu13=)
c.396G>A (p.Leu132=)
 gnomAD v4
1g.55039876G>CCA417957258PCSK9c.39G>C (p.Leu13=)
c.396G>C (p.Leu132=)
1g.55039876G>TCA417957259PCSK9c.39G>T (p.Leu13=)
c.396G>T (p.Leu132=)
 gnomAD v4
1g.55039876_55039879delinsGCCACA1167976396PCSK9c.39_42delinsGCCA (p.Leu13=)
c.396_399delinsGCCA (p.Leu132=)
1g.55039877C>ACA340482662PCSK9c.40C>A (p.Pro14Thr)
c.397C>A (p.Pro133Thr)
1g.55039877C=CA1167976397PCSK9c.40C= (p.Pro14=)
c.397C= (p.Pro133=)
1g.55039877C>GCA340482661PCSK9c.40C>G (p.Pro14Ala)
c.397C>G (p.Pro133Ala)
1g.55039877C>TCA340482660PCSK9c.40C>T (p.Pro14Ser)
c.397C>T (p.Pro133Ser)
 ClinVar dbSNP gnomAD v4
1g.55039878_55039880delCA340482659PCSK9c.41_43del (p.Pro14del)
c.398_400del (p.Pro133del)
 dbSNP
1g.55039878C>ACA340482663PCSK9c.41C>A (p.Pro14Gln)
c.398C>A (p.Pro133Gln)
1g.55039878C=CA1143465931PCSK9c.41C= (p.Pro14=)
c.398C= (p.Pro133=)
1g.55039878C>GCA340482664PCSK9c.41C>G (p.Pro14Arg)
c.398C>G (p.Pro133Arg)
1g.55039878C>TCA22791822PCSK9c.41C>T (p.Pro14Leu)
c.398C>T (p.Pro133Leu)
 dbSNP gnomAD v4
1g.55039878_55039879insGTCCA2586966665PCSK9c.41_42insGTC (p.Pro14_Leu15insSer)
c.398_399insGTC (p.Pro133_Leu134insSer)
1g.55039878_55039881delinsCACTCA1167976399PCSK9c.41_44delinsCACT (p.Pro14=)
c.398_401delinsCACT (p.Pro133=)
1g.55039878_55039887delinsCACTGCTGCTCA1167976398PCSK9c.41_50delinsCACTGCTGCT (p.Pro14=)
c.398_407delinsCACTGCTGCT (p.Pro133=)
1g.55039879A=CA1167976400PCSK9c.42A= (p.Pro14=)
c.399A= (p.Pro133=)
1g.55039879A>CCA417957265PCSK9c.42A>C (p.Pro14=)
c.399A>C (p.Pro133=)
 gnomAD v4
1g.55039879A>GCA417957264PCSK9c.42A>G (p.Pro14=)
c.399A>G (p.Pro133=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.55039879A>TCA417957263PCSK9c.42A>T (p.Pro14=)
c.399A>T (p.Pro133=)
1g.55039879_55039881delCA737023103PCSK9c.42_44del (p.Leu15del)
c.399_401del (p.Leu134del)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.55039879_55039881dupCA2695882064PCSK9c.42_44dup (p.Leu15_Leu16insLeu)
c.399_401dup (p.Leu134_Leu135insLeu)
 dbSNP
1g.55039879_55039887delCA913187506PCSK9c.42_50del (p.Leu15_Leu17del)
c.399_407del (p.Leu134_Leu136del)
 ClinVar dbSNP gnomAD v4
1g.55039879_55039888delinsACTGCTGCTGCA1167976401PCSK9c.42_51delinsACTGCTGCTG (p.Pro14=)
c.399_408delinsACTGCTGCTG (p.Pro133=)
1g.55039879_55039880insTGCA645372371PCSK9c.42_43insTG (p.Leu15CysfsTer30)
c.399_400insTG (p.Leu134CysfsTer30)
 ClinVar dbSNP
1g.55039879_55039880insATGCTGCA523275408PCSK9c.42_43insATGCTG (p.Pro14_Leu15insMetLeu)
c.399_400insATGCTG (p.Pro133_Leu134insMetLeu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.55039880C>ACA340482665PCSK9c.43C>A (p.Leu15Met)
c.400C>A (p.Leu134Met)
 gnomAD v4
1g.55039880C=CA1167976402PCSK9c.43C= (p.Leu15=)
c.400C= (p.Leu134=)
1g.55039880C>GCA340482666PCSK9c.43C>G (p.Leu15Val)
c.400C>G (p.Leu134Val)
1g.55039880C>TCA417957277PCSK9c.43C>T (p.Leu15=)
c.400C>T (p.Leu134=)
 dbSNP gnomAD v2
1g.55039880_55039902delinsCTGCTGCTGCTGCTGCTGCTGCTCA1140578550PCSK9c.43_65delinsCTGCTGCTGCTGCTGCTGCTGCT (p.Leu15=)
c.400_422delinsCTGCTGCTGCTGCTGCTGCTGCT (p.Leu134=)
1g.55039900_55039902dupCA871469PCSK9c.63_65dup (p.Leu22_Leu23insLeu)
c.420_422dup (p.Leu141_Leu142insLeu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
1g.55039897_55039902dupCA871471PCSK9c.60_65dup (p.Leu22_Leu23insLeuLeu)
c.417_422dup (p.Leu141_Leu142insLeuLeu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.55039894_55039902dupCA871472PCSK9c.57_65dup (p.Leu22_Leu23insLeuLeuLeu)
c.414_422dup (p.Leu141_Leu142insLeuLeuLeu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.55039891_55039902dupCA871470PCSK9c.54_65dup (p.Leu22_Leu23insLeuLeuLeuLeu)
c.411_422dup (p.Leu141_Leu142insLeuLeuLeuLeu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.55039888_55039902dupCA916180833PCSK9c.51_65dup (p.Leu22_Leu23insLeuLeuLeuLeuLeu)
c.408_422dup (p.Leu141_Leu142insLeuLeuLeuLeuLeu)
 dbSNP
1g.55039900_55039902delCA871468PCSK9c.63_65del (p.Leu22del)
c.420_422del (p.Leu141del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.55039897_55039902delCA871473PCSK9c.60_65del (p.Leu21_Leu22del)
c.417_422del (p.Leu140_Leu141del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.55039894_55039902delCA417957276PCSK9c.57_65del (p.Leu20_Leu22del)
c.414_422del (p.Leu139_Leu141del)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.55039891_55039902delCA2743685337PCSK9c.54_65del (p.Leu19_Leu22del)
c.411_422del (p.Leu138_Leu141del)
1g.55039880_55039881insCTGCA645517246PCSK9c.43_44insCTG (p.Leu15delinsProVal)
c.400_401insCTG (p.Leu134delinsProVal)
 COSMIC
1g.55039880_55039881insCTGCTGCA1139655483PCSK9c.43_44insCTGCTG (p.Leu15delinsProAlaVal)
c.400_401insCTGCTG (p.Leu134delinsProAlaVal)
1g.55039881T>ACA340482668PCSK9c.44T>A (p.Leu15Gln)
c.401T>A (p.Leu134Gln)
1g.55039881T>CCA340482669PCSK9c.44T>C (p.Leu15Pro)
c.401T>C (p.Leu134Pro)
1g.55039881T>GCA340482667PCSK9c.44T>G (p.Leu15Arg)
c.401T>G (p.Leu134Arg)
1g.55039882_55039883insGTGCA737023214PCSK9c.45_46insGTG (p.Leu15_Leu16insVal)
c.402_403insGTG (p.Leu134_Leu135insVal)
 ClinVar dbSNP
1g.55039882_55039883insTTGCA2740140191PCSK9c.45_46insTTG (p.Leu15_Leu16insLeu)
c.402_403insTTG (p.Leu134_Leu135insLeu)
1g.55039882G>ACA417957281PCSK9c.45G>A (p.Leu15=)
c.402G>A (p.Leu134=)
 dbSNP gnomAD v2 gnomAD v4
1g.55039882G>CCA417957283PCSK9c.45G>C (p.Leu15=)
c.402G>C (p.Leu134=)
1g.55039882G=CA1167976403PCSK9c.45G= (p.Leu15=)
c.402G= (p.Leu134=)
1g.55039882G>TCA417957282PCSK9c.45G>T (p.Leu15=)
c.402G>T (p.Leu134=)
 gnomAD v4
1g.55039883_55039884insAGCCA2695882238PCSK9c.46_47insAGC (p.Leu15_Leu16insGln)
c.403_404insAGC (p.Leu134_Leu135insGln)
 dbSNP
1g.55039883C>ACA340482671PCSK9c.46C>A (p.Leu16Met)
c.403C>A (p.Leu135Met)
1g.55039883C>GCA340482670PCSK9c.46C>G (p.Leu16Val)
c.403C>G (p.Leu135Val)
1g.55039883C>TCA417957284PCSK9c.46C>T (p.Leu16=)
c.403C>T (p.Leu135=)
 gnomAD v4
1g.55039884T>ACA340482672PCSK9c.47T>A (p.Leu16Gln)
c.404T>A (p.Leu135Gln)
1g.55039884T>CCA340482673PCSK9c.47T>C (p.Leu16Pro)
c.404T>C (p.Leu135Pro)
1g.55039884T>GCA340482674PCSK9c.47T>G (p.Leu16Arg)
c.404T>G (p.Leu135Arg)
1g.55039885_55039886insATGCA2695882325PCSK9c.48_49insATG (p.Leu16_Leu17insMet)
c.405_406insATG (p.Leu135_Leu136insMet)
 dbSNP
1g.55039885G>ACA417957287PCSK9c.48G>A (p.Leu16=)
c.405G>A (p.Leu135=)
 gnomAD v4
1g.55039885G>CCA417957286PCSK9c.48G>C (p.Leu16=)
c.405G>C (p.Leu135=)
1g.55039885G>TCA417957285PCSK9c.48G>T (p.Leu16=)
c.405G>T (p.Leu135=)
 gnomAD v4
1g.55039886C>ACA340482675PCSK9c.49C>A (p.Leu17Met)
c.406C>A (p.Leu136Met)
1g.55039886C>GCA340482676PCSK9c.49C>G (p.Leu17Val)
c.406C>G (p.Leu136Val)
1g.55039886C>TCA417957288PCSK9c.49C>T (p.Leu17=)
c.406C>T (p.Leu136=)
1g.55039887_55039888insTCTCA2695882327PCSK9c.50_51insTCT (p.Leu17_Leu18insLeu)
c.407_408insTCT (p.Leu136_Leu137insLeu)
 dbSNP
1g.55039887T>ACA340482677PCSK9c.50T>A (p.Leu17Gln)
c.407T>A (p.Leu136Gln)
1g.55039887T>CCA340482678PCSK9c.50T>C (p.Leu17Pro)
c.407T>C (p.Leu136Pro)
1g.55039887T>GCA340482679PCSK9c.50T>G (p.Leu17Arg)
c.407T>G (p.Leu136Arg)
1g.55039887T=CA1167976404PCSK9c.50T= (p.Leu17=)
c.407T= (p.Leu136=)
1g.55039888_55039889insATGCA2645837237PCSK9c.51_52insATG (p.Leu17_Leu18insMet)
c.408_409insATG (p.Leu136_Leu137insMet)
 dbSNP gnomAD v4
1g.55039888_55039889insTTGCA2645837236PCSK9c.51_52insTTG (p.Leu17_Leu18insLeu)
c.408_409insTTG (p.Leu136_Leu137insLeu)
 gnomAD v4
1g.55039888G>ACA417957291PCSK9c.51G>A (p.Leu17=)
c.408G>A (p.Leu136=)
 dbSNP
1g.55039888G>CCA417957292PCSK9c.51G>C (p.Leu17=)
c.408G>C (p.Leu136=)
1g.55039888G>TCA417957293PCSK9c.51G>T (p.Leu17=)
c.408G>T (p.Leu136=)
1g.55039888_55039889delinsGCCA1148230376PCSK9c.51_52delinsGC (p.Leu17=)
c.408_409delinsGC (p.Leu136=)
1g.55039889_55039890insCGCCA2573132427PCSK9c.52_53insCGC (p.Leu17_Leu18insPro)
c.409_410insCGC (p.Leu136_Leu137insPro)
 ClinVar dbSNP
1g.55039889_55039890insGGCCA042613PCSK9c.52_53insGGC (p.Leu17_Leu18insArg)
c.409_410insGGC (p.Leu136_Leu137insArg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.55039889C>ACA340482680PCSK9c.52C>A (p.Leu18Met)
c.409C>A (p.Leu137Met)
 dbSNP
1g.55039889C=CA1143919355PCSK9c.52C= (p.Leu18=)
c.409C= (p.Leu137=)
1g.55039889C>GCA340482681PCSK9c.52C>G (p.Leu18Val)
c.409C>G (p.Leu137Val)
1g.55039889C>TCA22791904PCSK9c.52C>T (p.Leu18=)
c.409C>T (p.Leu137=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.55039890_55039891insCCTCA2695882440PCSK9c.53_54insCCT (p.Leu18_Leu19insLeu)
c.410_411insCCT (p.Leu137_Leu138insLeu)
 dbSNP
1g.55039890_55039891insTCTCA2695882431PCSK9c.53_54insTCT (p.Leu18_Leu19insLeu)
c.410_411insTCT (p.Leu137_Leu138insLeu)
 dbSNP
1g.55039890T>ACA340482683PCSK9c.53T>A (p.Leu18Gln)
c.410T>A (p.Leu137Gln)
1g.55039890T>CCA340482684PCSK9c.53T>C (p.Leu18Pro)
c.410T>C (p.Leu137Pro)
1g.55039890T>GCA340482682PCSK9c.53T>G (p.Leu18Arg)
c.410T>G (p.Leu137Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.55039890T=CA1167976405PCSK9c.53T= (p.Leu18=)
c.410T= (p.Leu137=)
1g.55039891_55039892insTTGCA2695882464PCSK9c.54_55insTTG (p.Leu18_Leu19insLeu)
c.411_412insTTG (p.Leu137_Leu138insLeu)
 dbSNP
1g.55039891G>ACA417957295PCSK9c.54G>A (p.Leu18=)
c.411G>A (p.Leu137=)
 gnomAD v4
1g.55039891G>CCA417957296PCSK9c.54G>C (p.Leu18=)
c.411G>C (p.Leu137=)
1g.55039891G=CA1167976406PCSK9c.54G= (p.Leu18=)
c.411G= (p.Leu137=)
1g.55039891G>TCA043259PCSK9c.54G>T (p.Leu18=)
c.411G>T (p.Leu137=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.55039892_55039893insGGCCA2695882569PCSK9c.55_56insGGC (p.Leu18_Leu19insArg)
c.412_413insGGC (p.Leu137_Leu138insArg)
 dbSNP
1g.55039892C>ACA340482686PCSK9c.55C>A (p.Leu19Met)
c.412C>A (p.Leu138Met)
1g.55039892C>GCA340482685PCSK9c.55C>G (p.Leu19Val)
c.412C>G (p.Leu138Val)
1g.55039892C>TCA417957297PCSK9c.55C>T (p.Leu19=)
c.412C>T (p.Leu138=)
 gnomAD v4
1g.55039893_55039894insACTCA22791911PCSK9c.56_57insACT (p.Leu19_Leu20insLeu)
c.413_414insACT (p.Leu138_Leu139insLeu)
 dbSNP gnomAD v3 gnomAD v4
1g.55039893_55039894insCCTCA2695831120PCSK9c.56_57insCCT (p.Leu19_Leu20insLeu)
c.413_414insCCT (p.Leu138_Leu139insLeu)
 dbSNP
1g.55039893T>ACA340482687PCSK9c.56T>A (p.Leu19Gln)
c.413T>A (p.Leu138Gln)
1g.55039893T>CCA340482688PCSK9c.56T>C (p.Leu19Pro)
c.413T>C (p.Leu138Pro)
1g.55039893T>GCA340482689PCSK9c.56T>G (p.Leu19Arg)
c.413T>G (p.Leu138Arg)
 gnomAD v4
1g.55039894_55039895insATGCA2695882572PCSK9c.57_58insATG (p.Leu19_Leu20insMet)
c.414_415insATG (p.Leu138_Leu139insMet)
 dbSNP
1g.55039894G>ACA417957300PCSK9c.57G>A (p.Leu19=)
c.414G>A (p.Leu138=)
1g.55039894G>CCA417957298PCSK9c.57G>C (p.Leu19=)
c.414G>C (p.Leu138=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.55039894G=CA1167976407PCSK9c.57G= (p.Leu19=)
c.414G= (p.Leu138=)
1g.55039894G>TCA417957299PCSK9c.57G>T (p.Leu19=)
c.414G>T (p.Leu138=)
1g.55039895_55039896insCGCCA2695882641PCSK9c.58_59insCGC (p.Leu19_Leu20insPro)
c.415_416insCGC (p.Leu138_Leu139insPro)
 dbSNP
1g.55039895C>ACA340482691PCSK9c.58C>A (p.Leu20Met)
c.415C>A (p.Leu139Met)
1g.55039895C>GCA340482690PCSK9c.58C>G (p.Leu20Val)
c.415C>G (p.Leu139Val)
1g.55039895C>TCA417957302PCSK9c.58C>T (p.Leu20=)
c.415C>T (p.Leu139=)
1g.55039896_55039897insCCTCA2645837262PCSK9c.59_60insCCT (p.Leu20_Leu21insLeu)
c.416_417insCCT (p.Leu139_Leu140insLeu)
 gnomAD v4
1g.55039898_55039906dupCA2574381078PCSK9c.61_69dup (p.Leu23_Gly24insLeuLeuLeu)
c.418_426dup (p.Leu142_Gly143insLeuLeuLeu)
 ClinVar gnomAD v4
1g.55039896T>ACA340482693PCSK9c.59T>A (p.Leu20Gln)
c.416T>A (p.Leu139Gln)
1g.55039896T>CCA340482692PCSK9c.59T>C (p.Leu20Pro)
c.416T>C (p.Leu139Pro)
1g.55039896T>GCA340482694PCSK9c.59T>G (p.Leu20Arg)
c.416T>G (p.Leu139Arg)
1g.55039897_55039898insTTGCA2695882651PCSK9c.60_61insTTG (p.Leu20_Leu21insLeu)
c.417_418insTTG (p.Leu139_Leu140insLeu)
 dbSNP
1g.55039897G>ACA417957304PCSK9c.60G>A (p.Leu20=)
c.417G>A (p.Leu139=)
 dbSNP gnomAD v4
1g.55039897G>CCA417957305PCSK9c.60G>C (p.Leu20=)
c.417G>C (p.Leu139=)
1g.55039897G=CA1167976408PCSK9c.60G= (p.Leu20=)
c.417G= (p.Leu139=)
1g.55039897G>TCA417957303PCSK9c.60G>T (p.Leu20=)
c.417G>T (p.Leu139=)
1g.55039898_55039899insCGCCA2695882671PCSK9c.61_62insCGC (p.Leu20_Leu21insPro)
c.418_419insCGC (p.Leu139_Leu140insPro)
 dbSNP
1g.55039898C>ACA340482695PCSK9c.61C>A (p.Leu21Met)
c.418C>A (p.Leu140Met)
1g.55039898C=CA1167976409PCSK9c.61C= (p.Leu21=)
c.418C= (p.Leu140=)
1g.55039898C>GCA340482696PCSK9c.61C>G (p.Leu21Val)
c.418C>G (p.Leu140Val)
1g.55039898C>TCA417957306PCSK9c.61C>T (p.Leu21=)
c.418C>T (p.Leu140=)
 dbSNP gnomAD v4
1g.55039901_55039906dupCA043381PCSK9c.64_69dup (p.Leu23_Gly24insLeuLeu)
c.421_426dup (p.Leu142_Gly143insLeuLeu)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.55039899T>ACA340482697PCSK9c.62T>A (p.Leu21Gln)
c.419T>A (p.Leu140Gln)
1g.55039899T>CCA340482698PCSK9c.62T>C (p.Leu21Pro)
c.419T>C (p.Leu140Pro)
1g.55039899T>GCA340482699PCSK9c.62T>G (p.Leu21Arg)
c.419T>G (p.Leu140Arg)
1g.55039900G>ACA417957308PCSK9c.63G>A (p.Leu21=)
c.420G>A (p.Leu140=)
 dbSNP gnomAD v4
1g.55039900G>CCA417957310PCSK9c.63G>C (p.Leu21=)
c.420G>C (p.Leu140=)
1g.55039900G=CA1167976410PCSK9c.63G= (p.Leu21=)
c.420G= (p.Leu140=)
1g.55039900G>TCA417957309PCSK9c.63G>T (p.Leu21=)
c.420G>T (p.Leu140=)
 gnomAD v4
1g.55039901C>ACA340482700PCSK9c.64C>A (p.Leu22Ile)
c.421C>A (p.Leu141Ile)
 gnomAD v4
1g.55039901C=CA1167976412PCSK9c.64C= (p.Leu22=)
c.421C= (p.Leu141=)
1g.55039901C>GCA340482702PCSK9c.64C>G (p.Leu22Val)
c.421C>G (p.Leu141Val)
1g.55039901C>TCA340482701PCSK9c.64C>T (p.Leu22Phe)
c.421C>T (p.Leu141Phe)
 dbSNP gnomAD v2 gnomAD v4
1g.55039902_55039903insACTCA523275409PCSK9c.65_66insACT (p.Leu22_Leu23insLeu)
c.422_423insACT (p.Leu141_Leu142insLeu)
 dbSNP gnomAD v2
1g.55039902_55039903insTCTCA2695840625PCSK9c.65_66insTCT (p.Leu22_Leu23insLeu)
c.422_423insTCT (p.Leu141_Leu142insLeu)
 dbSNP
1g.55039902_55039903insGCTCCTCA737023242PCSK9c.65_66insGCTCCT (p.Leu22_Leu23insLeuLeu)
c.422_423insGCTCCT (p.Leu141_Leu142insLeuLeu)
 ClinVar dbSNP
1g.55039902_55039903insGCTGCTACTACTCA2645837275PCSK9c.65_66insGCTGCTACTACT (p.Leu22_Leu23insLeuLeuLeuLeu)
c.422_423insGCTGCTACTACT (p.Leu141_Leu142insLeuLeuLeuLeu)
 gnomAD v4
1g.55039902_55039903insGCTGCTGCTACTACTCA1167976411PCSK9c.65_66insGCTGCTGCTACTACT (p.Leu22_Leu23insLeuLeuLeuLeuLeu)
c.422_423insGCTGCTGCTACTACT (p.Leu141_Leu142insLeuLeuLeuLeuLeu)
 dbSNP
1g.55039902T>ACA340482703PCSK9c.65T>A (p.Leu22His)
c.422T>A (p.Leu141His)
1g.55039902T>CCA340482704PCSK9c.65T>C (p.Leu22Pro)
c.422T>C (p.Leu141Pro)
 ClinVar dbSNP gnomAD v4
1g.55039902T>GCA340482705PCSK9c.65T>G (p.Leu22Arg)
c.422T>G (p.Leu141Arg)
1g.55039902T=CA1167976413PCSK9c.65T= (p.Leu22=)
c.422T= (p.Leu141=)
1g.55039902_55039903insGCA2586966666PCSK9c.65_66insG (p.Leu23ProfsTer?)
c.422_423insG (p.Leu142ProfsTer?)
 gnomAD v4
1g.55039902_55039903insGCCA2574381079PCSK9c.65_66insGC (p.Leu23ProfsTer22)
c.422_423insGC (p.Leu142ProfsTer22)
1g.55039902_55039903insGCACA2695882756PCSK9c.65_66insGCA (p.Leu22_Leu23insHis)
c.422_423insGCA (p.Leu141_Leu142insHis)
 dbSNP
1g.55039902_55039903insGCCCA2580063086PCSK9c.65_66insGCC (p.Leu22_Leu23insPro)
c.422_423insGCC (p.Leu141_Leu142insPro)
 ClinVar dbSNP
1g.55039903C>ACA417957311PCSK9c.66C>A (p.Leu22=)
c.423C>A (p.Leu141=)
 gnomAD v4
1g.55039903C=CA1167976414PCSK9c.66C= (p.Leu22=)
c.423C= (p.Leu141=)
1g.55039903C>GCA417957312PCSK9c.66C>G (p.Leu22=)
c.423C>G (p.Leu141=)
 dbSNP
1g.55039903C>TCA22791936PCSK9c.66C>T (p.Leu22=)
c.423C>T (p.Leu141=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC

Number of alleles fetched