| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.55039503_55039519del | CA2645835914 | PCSK9 | c.-335_-319del (n.-335_-319del) c.23_39del (p.Leu8GlnfsTer6) | gnomAD v4 |
| 1 | g.55039518T>A | CA737022691 | PCSK9 | c.-320T>A (n.-320T>A) c.38T>A (p.Val13Asp) | dbSNP |
| 1 | g.55039518T>C | CA737022692 | PCSK9 | c.-320T>C (n.-320T>C) c.38T>C (p.Val13Ala) | dbSNP |
| 1 | g.55039518T>G | CA2645835992 | PCSK9 | c.-320T>G (n.-320T>G) c.38T>G (p.Val13Gly) | gnomAD v4 |
| 1 | g.55039518T= | CA1167976203 | PCSK9 | c.-320T= (n.-320T=) c.38T= (p.Val13=) | |
| 1 | g.55039520A= | CA1167976204 | PCSK9 | c.-318A= (n.-318A=) c.40A= (p.Lys14=) | |
| 1 | g.55039520A>G | CA737022696 | PCSK9 | c.-318A>G (n.-318A>G) c.40A>G (p.Lys14Glu) | dbSNP gnomAD v4 |
| 1 | g.55039521A>G | CA2645835995 | PCSK9 | c.-317A>G (n.-317A>G) c.41A>G (p.Lys14Arg) | gnomAD v4 |
| 1 | g.55039522G>A | CA2645835996 | PCSK9 | c.-316G>A (n.-316G>A) c.42G>A (p.Lys14=) | gnomAD v4 |
| 1 | g.55039522G>T | CA2645835997 | PCSK9 | c.-316G>T (n.-316G>T) c.42G>T (p.Lys14Asn) | gnomAD v4 |
| 1 | g.55039523C>A | CA2645835999 | PCSK9 | c.-315C>A (n.-315C>A) c.43C>A (p.His15Asn) | gnomAD v4 |
| 1 | g.55039523C= | CA1167976205 | PCSK9 | c.-315C= (n.-315C=) c.43C= (p.His15=) | |
| 1 | g.55039523C>G | CA1167976206 | PCSK9 | c.-315C>G (n.-315C>G) c.43C>G (p.His15Asp) | dbSNP |
| 1 | g.55039523C>T | CA2645836000 | PCSK9 | c.-315C>T (n.-315C>T) c.43C>T (p.His15Tyr) | gnomAD v4 |
| 1 | g.55039524A= | CA1167976207 | PCSK9 | c.-314A= (n.-314A=) c.44A= (p.His15=) | |
| 1 | g.55039524A>C | CA2645836003 | PCSK9 | c.-314A>C (n.-314A>C) c.44A>C (p.His15Pro) | gnomAD v4 |
| 1 | g.55039524A>G | CA1001927716 | PCSK9 | c.-314A>G (n.-314A>G) c.44A>G (p.His15Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.55039524A>T | CA2645836004 | PCSK9 | c.-314A>T (n.-314A>T) c.44A>T (p.His15Leu) | gnomAD v4 |
| 1 | g.55039525C>T | CA2645836007 | PCSK9 | c.-313C>T (n.-313C>T) c.45C>T (p.His15=) | gnomAD v4 |
| 1 | g.55039526C>A | CA2645836009 | PCSK9 | c.-312C>A (n.-312C>A) c.46C>A (p.Pro16Thr) | gnomAD v4 |
| 1 | g.55039526C= | CA1167976208 | PCSK9 | c.-312C= (n.-312C=) c.46C= (p.Pro16=) | |
| 1 | g.55039526C>T | CA22791310 | PCSK9 | c.-312C>T (n.-312C>T) c.46C>T (p.Pro16Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.55039527C>A | CA2645836010 | PCSK9 | c.-311C>A (n.-311C>A) c.47C>A (p.Pro16Gln) | gnomAD v4 |
| 1 | g.55039528A= | CA1167976209 | PCSK9 | c.-310A= (n.-310A=) c.48A= (p.Pro16=) | |
| 1 | g.55039528A>G | CA1167976210 | PCSK9 | c.-310A>G (n.-310A>G) c.48A>G (p.Pro16=) | dbSNP gnomAD v4 |
| 1 | g.55039529C>A | CA2645836011 | PCSK9 | c.-309C>A (n.-309C>A) c.49C>A (p.His17Asn) | gnomAD v4 |
| 1 | g.55039529C= | CA1167976211 | PCSK9 | c.-309C= (n.-309C=) c.49C= (p.His17=) | |
| 1 | g.55039529C>T | CA22791318 | PCSK9 | c.-309C>T (n.-309C>T) c.49C>T (p.His17Tyr) | dbSNP gnomAD v4 |
| 1 | g.55039530A= | CA1167976212 | PCSK9 | c.-308A= (n.-308A=) c.50A= (p.His17=) | |
| 1 | g.55039530A>G | CA1001927740 | PCSK9 | c.-308A>G (n.-308A>G) c.50A>G (p.His17Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.55039530_55039531delinsAC | CA1167976213 | PCSK9 | c.-308_-307delinsAC (n.-308_-307delinsAC) c.50_51delinsAC (p.His17=) | |
| 1 | g.55039531C= | CA1167976215 | PCSK9 | c.-307C= (n.-307C=) c.51C= (p.His17=) | |
| 1 | g.55039531C>G | CA1167976216 | PCSK9 | c.-307C>G (n.-307C>G) c.51C>G (p.His17Gln) | dbSNP |
| 1 | g.55039531C>T | CA2645836016 | PCSK9 | c.-307C>T (n.-307C>T) c.51C>T (p.His17=) | gnomAD v4 |
| 1 | g.55039533del | CA1167976214 | PCSK9 | c.-305del (n.-305del) c.53del (p.Pro18LeufsTer29) | dbSNP gnomAD v4 |
| 1 | g.55039532C>A | CA2571594687 | PCSK9 | c.-306C>A (n.-306C>A) c.52C>A (p.Pro18Thr) | |
| 1 | g.55039533C>A | CA2645836017 | PCSK9 | c.-305C>A (n.-305C>A) c.53C>A (p.Pro18His) | gnomAD v4 |
| 1 | g.55039533C>G | CA2645836018 | PCSK9 | c.-305C>G (n.-305C>G) c.53C>G (p.Pro18Arg) | gnomAD v4 |
| 1 | g.55039533C>T | CA2645836020 | PCSK9 | c.-305C>T (n.-305C>T) c.53C>T (p.Pro18Leu) | gnomAD v4 |
| 1 | g.55039534T>C | CA2645836023 | PCSK9 | c.-304T>C (n.-304T>C) c.54T>C (p.Pro18=) | gnomAD v4 |
| 1 | g.55039535A= | CA1167976217 | PCSK9 | c.-303A= (n.-303A=) c.55A= (p.Arg19=) | |
| 1 | g.55039535A>C | CA2645836025 | PCSK9 | c.-303A>C (n.-303A>C) c.55A>C (p.Arg19=) | gnomAD v4 |
| 1 | g.55039535A>G | CA22791322 | PCSK9 | c.-303A>G (n.-303A>G) c.55A>G (p.Arg19Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.55039537_55039539del | CA2645836024 | PCSK9 | c.-301_-299del (n.-301_-299del) c.57_59del (p.Arg20del) | gnomAD v4 |
| 1 | g.55039536G>T | CA2539682464 | PCSK9 | c.-302G>T (n.-302G>T) c.56G>T (p.Arg19Ile) | gnomAD v4 |
| 1 | g.55039539G>A | CA2743685332 | PCSK9 | c.-299G>A (n.-299G>A) c.59G>A (p.Arg20Lys) | |
| 1 | g.55039540G= | CA1167976218 | PCSK9 | c.-298G= (n.-298G=) c.60G= (p.Arg20=) | |
| 1 | g.55039540G>T | CA737022698 | PCSK9 | c.-298G>T (n.-298G>T) c.60G>T (p.Arg20Ser) | dbSNP gnomAD v4 |
| 1 | g.55039541T>C | CA2645836026 | PCSK9 | c.-297T>C (n.-297T>C) c.61T>C (p.Phe21Leu) | gnomAD v4 |
| 1 | g.55039542T>A | CA2645836027 | PCSK9 | c.-296T>A (n.-296T>A) c.62T>A (p.Phe21Tyr) | gnomAD v4 |
| 1 | g.55039542T>G | CA1001927743 | PCSK9 | c.-296T>G (n.-296T>G) c.62T>G (p.Phe21Cys) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.55039542T= | CA1167976219 | PCSK9 | c.-296T= (n.-296T=) c.62T= (p.Phe21=) | |
| 1 | g.55039545C>A | CA2645836030 | PCSK9 | c.-293C>A (n.-293C>A) c.65C>A (p.Pro22Gln) | gnomAD v4 |
| 1 | g.55039545C>T | CA2645836029 | PCSK9 | c.-293C>T (n.-293C>T) c.65C>T (p.Pro22Leu) | gnomAD v4 |
| 1 | g.55039546G>A | CA737022699 | PCSK9 | c.-292G>A (n.-292G>A) c.66G>A (p.Pro22=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.55039546G>C | CA2645836032 | PCSK9 | c.-292G>C (n.-292G>C) c.66G>C (p.Pro22=) | gnomAD v4 |
| 1 | g.55039546G= | CA1167976220 | PCSK9 | c.-292G= (n.-292G=) c.66G= (p.Pro22=) | |
| 1 | g.55039546G>T | CA2645836034 | PCSK9 | c.-292G>T (n.-292G>T) c.66G>T (p.Pro22=) | gnomAD v4 |
| 1 | g.55039547C>A | CA2645836036 | PCSK9 | c.-291C>A (n.-291C>A) c.67C>A (p.Gln23Lys) | gnomAD v4 |
| 1 | g.55039547C>T | CA2645836037 | PCSK9 | c.-291C>T (n.-291C>T) c.67C>T (p.Gln23Ter) | gnomAD v4 |
| 1 | g.55039549G>A | CA1167976222 | PCSK9 | c.-289G>A (n.-289G>A) c.69G>A (p.Gln23=) | dbSNP |
| 1 | g.55039549G= | CA1167976221 | PCSK9 | c.-289G= (n.-289G=) c.69G= (p.Gln23=) | |
| 1 | g.55039549G>T | CA2645836040 | PCSK9 | c.-289G>T (n.-289G>T) c.69G>T (p.Gln23His) | gnomAD v4 |
| 1 | g.55039550C>A | CA2645836044 | PCSK9 | c.-288C>A (n.-288C>A) c.70C>A (p.Arg24=) | gnomAD v4 |
| 1 | g.55039550C= | CA1167976223 | PCSK9 | c.-288C= (n.-288C=) c.70C= (p.Arg24=) | |
| 1 | g.55039550C>T | CA737022701 | PCSK9 | c.-288C>T (n.-288C>T) c.70C>T (p.Arg24Ter) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.55039551G>A | CA10588854 | PCSK9 | c.-287G>A (n.-287G>A) c.71G>A (p.Arg24Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.55039551G= | CA1140807369 | PCSK9 | c.-287G= (n.-287G=) c.71G= (p.Arg24=) | |
| 1 | g.55039551G>T | CA22791335 | PCSK9 | c.-287G>T (n.-287G>T) c.71G>T (p.Arg24Leu) | dbSNP gnomAD v4 |
| 1 | g.55039553C>A | CA737022708 | PCSK9 | c.-285C>A (n.-285C>A) c.73C>A (p.Arg25Ser) | dbSNP gnomAD v4 |
| 1 | g.55039553C= | CA1167976224 | PCSK9 | c.-285C= (n.-285C=) c.73C= (p.Arg25=) | |
| 1 | g.55039553C>T | CA1167976225 | PCSK9 | c.-285C>T (n.-285C>T) c.73C>T (p.Arg25Cys) | dbSNP gnomAD v4 |
| 1 | g.55039554G>A | CA2645836066 | PCSK9 | c.-284G>A (n.-284G>A) c.74G>A (p.Arg25His) | gnomAD v4 |
| 1 | g.55039554G>C | CA2645836068 | PCSK9 | c.-284G>C (n.-284G>C) c.74G>C (p.Arg25Pro) | gnomAD v4 |
| 1 | g.55039555T>C | CA2645836072 | PCSK9 | c.-283T>C (n.-283T>C) c.75T>C (p.Arg25=) | gnomAD v4 |
| 1 | g.55039555T>G | CA2645836074 | PCSK9 | c.-283T>G (n.-283T>G) c.75T>G (p.Arg25=) | gnomAD v4 |
| 1 | g.55039556C>A | CA2645836076 | PCSK9 | c.-282C>A (n.-282C>A) c.76C>A (p.Arg26=) | gnomAD v4 |
| 1 | g.55039556C= | CA1167976226 | PCSK9 | c.-282C= (n.-282C=) c.76C= (p.Arg26=) | |
| 1 | g.55039556C>T | CA737022710 | PCSK9 | c.-282C>T (n.-282C>T) c.76C>T (p.Arg26Ter) | dbSNP gnomAD v4 |
| 1 | g.55039557G>T | CA2645836078 | PCSK9 | c.-281G>T (n.-281G>T) c.77G>T (p.Arg26Leu) | gnomAD v4 |
| 1 | g.55039558A>G | CA2645836080 | PCSK9 | c.-280A>G (n.-280A>G) c.78A>G (p.Arg26=) | gnomAD v4 |
| 1 | g.55039558A>T | CA2645836083 | PCSK9 | c.-280A>T (n.-280A>T) c.78A>T (p.Arg26=) | gnomAD v4 |
| 1 | g.55039558_55039578delinsAGGCGCTCATGGTTGCAGGCG | CA1167976227 | PCSK9 | c.-280_-260delinsAGGCGCTCATGGTTGCAGGCG (n.-280_-260delinsAGGCGCTCATGGTTGCAGGCG) c.78_98delinsAGGCGCTCATGGTTGCAGGCG (p.Arg26=) | |
| 1 | g.55039559G>A | CA2645836091 | PCSK9 | c.-279G>A (n.-279G>A) c.79G>A (p.Gly27Ser) | gnomAD v4 |
| 1 | g.55039559G>T | CA2645836093 | PCSK9 | c.-279G>T (n.-279G>T) c.79G>T (p.Gly27Cys) | gnomAD v4 |
| 1 | g.55039564_55039583del | CA737022711 | PCSK9 | c.-274_-255del (n.-274_-255del) c.84_103del (p.His29AlafsTer7) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.55039560G>A | CA1167976229 | PCSK9 | c.-278G>A (n.-278G>A) c.80G>A (p.Gly27Asp) | dbSNP gnomAD v4 |
| 1 | g.55039560G= | CA1167976228 | PCSK9 | c.-278G= (n.-278G=) c.80G= (p.Gly27=) | |
| 1 | g.55039560G>T | CA2645836097 | PCSK9 | c.-278G>T (n.-278G>T) c.80G>T (p.Gly27Val) | gnomAD v4 |
| 1 | g.55039561C= | CA1167976230 | PCSK9 | c.-277C= (n.-277C=) c.81C= (p.Gly27=) | |
| 1 | g.55039561C>G | CA22791337 | PCSK9 | c.-277C>G (n.-277C>G) c.81C>G (p.Gly27=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.55039561C>T | CA22791338 | PCSK9 | c.-277C>T (n.-277C>T) c.81C>T (p.Gly27=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.55039562G>A | CA2645836103 | PCSK9 | c.-276G>A (n.-276G>A) c.82G>A (p.Ala28Thr) | gnomAD v4 |
| 1 | g.55039562G= | CA1167976231 | PCSK9 | c.-276G= (n.-276G=) c.82G= (p.Ala28=) | |
| 1 | g.55039562G>T | CA1001927754 | PCSK9 | c.-276G>T (n.-276G>T) c.82G>T (p.Ala28Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.55039563C>T | CA2645836105 | PCSK9 | c.-275C>T (n.-275C>T) c.83C>T (p.Ala28Val) | gnomAD v4 |
| 1 | g.55039565C>A | CA2645836107 | PCSK9 | c.-273C>A (n.-273C>A) c.85C>A (p.His29Asn) | gnomAD v4 |
| 1 | g.55039565C= | CA1167976232 | PCSK9 | c.-273C= (n.-273C=) c.85C= (p.His29=) | |
| 1 | g.55039565C>G | CA1001927755 | PCSK9 | c.-273C>G (n.-273C>G) c.85C>G (p.His29Asp) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.55039566A= | CA1167976233 | PCSK9 | c.-272A= (n.-272A=) c.86A= (p.His29=) | |
| 1 | g.55039566A>C | CA2645836112 | PCSK9 | c.-272A>C (n.-272A>C) c.86A>C (p.His29Pro) | gnomAD v4 |
| 1 | g.55039566A>G | CA22791345 | PCSK9 | c.-272A>G (n.-272A>G) c.86A>G (p.His29Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.55039566A>T | CA2645836110 | PCSK9 | c.-272A>T (n.-272A>T) c.86A>T (p.His29Leu) | gnomAD v4 |
| 1 | g.55039567T>A | CA2645836116 | PCSK9 | c.-271T>A (n.-271T>A) c.87T>A (p.His29Gln) | gnomAD v4 |
| 1 | g.55039567T>C | CA523275356 | PCSK9 | c.-271T>C (n.-271T>C) c.87T>C (p.His29=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.55039567T>G | CA523275357 | PCSK9 | c.-271T>G (n.-271T>G) c.87T>G (p.His29Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.55039567T= | CA1167976234 | PCSK9 | c.-271T= (n.-271T=) c.87T= (p.His29=) | |
| 1 | g.55039568G>T | CA2645836119 | PCSK9 | c.-270G>T (n.-270G>T) c.88G>T (p.Gly30Cys) | gnomAD v4 |
| 1 | g.55039569G>A | CA1167976236 | PCSK9 | c.-269G>A (n.-269G>A) c.89G>A (p.Gly30Asp) | dbSNP gnomAD v4 |
| 1 | g.55039569G= | CA1167976235 | PCSK9 | c.-269G= (n.-269G=) c.89G= (p.Gly30=) | |
| 1 | g.55039569G>T | CA2645836123 | PCSK9 | c.-269G>T (n.-269G>T) c.89G>T (p.Gly30Val) | gnomAD v4 |
| 1 | g.55039576_55039666del | CA2645836121 | PCSK9 | c.-262_-172del (n.-262_-172del) c.96_186del (p.Arg32SerfsTer?) | gnomAD v4 |
| 1 | g.55039570T>A | CA1167976238 | PCSK9 | c.-268T>A (n.-268T>A) c.90T>A (p.Gly30=) | dbSNP |
| 1 | g.55039570T>C | CA2645836127 | PCSK9 | c.-268T>C (n.-268T>C) c.90T>C (p.Gly30=) | gnomAD v4 |
| 1 | g.55039570T>G | CA2645836130 | PCSK9 | c.-268T>G (n.-268T>G) c.90T>G (p.Gly30=) | gnomAD v4 |
| 1 | g.55039570T= | CA1167976237 | PCSK9 | c.-268T= (n.-268T=) c.90T= (p.Gly30=) | |
| 1 | g.55039571T>C | CA1167976240 | PCSK9 | c.-267T>C (n.-267T>C) c.91T>C (p.Cys31Arg) | dbSNP gnomAD v4 |
| 1 | g.55039571T= | CA1167976239 | PCSK9 | c.-267T= (n.-267T=) c.91T= (p.Cys31=) | |
| 1 | g.55039573C>A | CA2645836135 | PCSK9 | c.-265C>A (n.-265C>A) c.93C>A (p.Cys31Ter) | gnomAD v4 |
| 1 | g.55039573C>T | CA2645836137 | PCSK9 | c.-265C>T (n.-265C>T) c.93C>T (p.Cys31=) | gnomAD v4 |
| 1 | g.55039574del | CA2645836144 | PCSK9 | c.-264del (n.-264del) c.94del (p.Arg32GlyfsTer15) | gnomAD v4 |
| 1 | g.55039574A= | CA1167976241 | PCSK9 | c.-264A= (n.-264A=) c.94A= (p.Arg32=) | |
| 1 | g.55039574A>C | CA1167976242 | PCSK9 | c.-264A>C (n.-264A>C) c.94A>C (p.Arg32=) | dbSNP gnomAD v4 |
| 1 | g.55039574A>G | CA2645836142 | PCSK9 | c.-264A>G (n.-264A>G) c.94A>G (p.Arg32Gly) | gnomAD v4 |
| 1 | g.55039574A>T | CA2645836140 | PCSK9 | c.-264A>T (n.-264A>T) c.94A>T (p.Arg32Trp) | gnomAD v4 |
| 1 | g.55039575G>T | CA2645836153 | PCSK9 | c.-263G>T (n.-263G>T) c.95G>T (p.Arg32Met) | 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>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 |