| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.55039476G>A | CA1167976177 | PCSK9 | c.-362G>A (n.-362G>A) c.-5G>A (n.-5G>A) | dbSNP gnomAD v4 |
| 1 | g.55039476G>C | CA2542459366 | PCSK9 | c.-362G>C (n.-362G>C) c.-5G>C (n.-5G>C) | gnomAD v4 |
| 1 | g.55039476G= | CA1167976176 | PCSK9 | c.-362G= (n.-362G=) c.-5G= (n.-5G=) | |
| 1 | g.55039476G>T | CA1167976178 | PCSK9 | c.-362G>T (n.-362G>T) c.-5G>T (n.-5G>T) | dbSNP gnomAD v4 |
| 1 | g.55039477T>C | CA2645835861 | PCSK9 | c.-361T>C (n.-361T>C) c.-4T>C (n.-4T>C) | gnomAD v4 |
| 1 | g.55039477T>G | CA1167976180 | PCSK9 | c.-361T>G (n.-361T>G) c.-4T>G (n.-4T>G) | dbSNP |
| 1 | g.55039477T= | CA1167976179 | PCSK9 | c.-361T= (n.-361T=) c.-4T= (n.-4T=) | |
| 1 | g.55039479C>A | CA1167976182 | PCSK9 | c.-359C>A (n.-359C>A) c.-2C>A (n.-2C>A) | dbSNP gnomAD v4 |
| 1 | g.55039479C= | CA1167976181 | PCSK9 | c.-359C= (n.-359C=) c.-2C= (n.-2C=) | |
| 1 | g.55039479C>T | CA522960417 | PCSK9 | c.-359C>T (n.-359C>T) c.-2C>T (n.-2C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.55039480G>A | CA1167976184 | PCSK9 | c.-358G>A (n.-358G>A) c.-1G>A (n.-1G>A) | dbSNP gnomAD v4 |
| 1 | g.55039480G>C | CA737022653 | PCSK9 | c.-358G>C (n.-358G>C) c.-1G>C (n.-1G>C) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.55039480G= | CA1167976183 | PCSK9 | c.-358G= (n.-358G=) c.-1G= (n.-1G=) | |
| 1 | g.55039480G>T | CA2645835864 | PCSK9 | c.-358G>T (n.-358G>T) c.-1G>T (n.-1G>T) | gnomAD v4 |
| 1 | g.55039481A>T | CA2645835869 | PCSK9 | c.-357A>T (n.-357A>T) c.1A>T (p.Met1Leu) | gnomAD v4 |
| 1 | g.55039482_55039483delinsTG | CA1167976185 | PCSK9 | c.-356_-355delinsTG (n.-356_-355delinsTG) c.2_3delinsTG (p.Met1=) | |
| 1 | g.55039486del | CA737022654 | PCSK9 | c.-352del (n.-352del) c.6del (p.Leu3SerfsTer?) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.55039485G= | CA1167976186 | PCSK9 | c.-353G= (n.-353G=) c.5G= (p.Gly2=) | |
| 1 | g.55039485G>T | CA10611281 | PCSK9 | c.-353G>T (n.-353G>T) c.5G>T (p.Gly2Val) | ClinVar dbSNP gnomAD v4 |
| 1 | g.55039486G>A | CA22791296 | PCSK9 | c.-352G>A (n.-352G>A) c.6G>A (p.Gly2=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.55039486G= | CA1167976187 | PCSK9 | c.-352G= (n.-352G=) c.6G= (p.Gly2=) | |
| 1 | g.55039486G>T | CA2645835882 | PCSK9 | c.-352G>T (n.-352G>T) c.6G>T (p.Gly2=) | gnomAD v4 |
| 1 | g.55039487C>A | CA2645835883 | PCSK9 | c.-351C>A (n.-351C>A) c.7C>A (p.Leu3Ile) | gnomAD v4 |
| 1 | g.55039487C>T | CA2645835884 | PCSK9 | c.-351C>T (n.-351C>T) c.7C>T (p.Leu3Phe) | gnomAD v4 |
| 1 | g.55039488T>C | CA2645835885 | PCSK9 | c.-350T>C (n.-350T>C) c.8T>C (p.Leu3Pro) | gnomAD v4 |
| 1 | g.55039490T>C | CA2645835886 | PCSK9 | c.-348T>C (n.-348T>C) c.10T>C (p.Trp4Arg) | gnomAD v4 |
| 1 | g.55039491G>T | CA2645835887 | PCSK9 | c.-347G>T (n.-347G>T) c.11G>T (p.Trp4Leu) | gnomAD v4 |
| 1 | g.55039492G>C | CA10610163 | PCSK9 | c.-346G>C (n.-346G>C) c.12G>C (p.Trp4Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.55039492G= | CA1167976188 | PCSK9 | c.-346G= (n.-346G=) c.12G= (p.Trp4=) | |
| 1 | g.55039492G>T | CA2645835891 | PCSK9 | c.-346G>T (n.-346G>T) c.12G>T (p.Trp4Cys) | gnomAD v4 |
| 1 | g.55039494G>T | CA2645835896 | PCSK9 | c.-344G>T (n.-344G>T) c.14G>T (p.Trp5Leu) | gnomAD v4 |
| 1 | g.55039495G>T | CA2645835898 | PCSK9 | c.-343G>T (n.-343G>T) c.15G>T (p.Trp5Cys) | gnomAD v4 |
| 1 | g.55039496del | CA2645835899 | PCSK9 | c.-342del (n.-342del) c.16del (p.Arg6ValfsTer?) | gnomAD v4 |
| 1 | g.55039496C= | CA1167976189 | PCSK9 | c.-342C= (n.-342C=) c.16C= (p.Arg6=) | |
| 1 | g.55039496C>T | CA737022661 | PCSK9 | c.-342C>T (n.-342C>T) c.16C>T (p.Arg6Cys) | dbSNP gnomAD v4 |
| 1 | g.55039497G>A | CA737022662 | PCSK9 | c.-341G>A (n.-341G>A) c.17G>A (p.Arg6His) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.55039497G= | CA1167976190 | PCSK9 | c.-341G= (n.-341G=) c.17G= (p.Arg6=) | |
| 1 | g.55039498T>C | CA2645835901 | PCSK9 | c.-340T>C (n.-340T>C) c.18T>C (p.Arg6=) | gnomAD v4 |
| 1 | g.55039499_55039500insTTG | CA2645835903 | PCSK9 | c.-339_-338insTTG (n.-339_-338insTTG) c.19_20insTTG (p.Arg6_Asp7insVal) | gnomAD v4 |
| 1 | g.55039499G>T | CA2645835908 | PCSK9 | c.-339G>T (n.-339G>T) c.19G>T (p.Asp7Tyr) | gnomAD v4 |
| 1 | g.55039499_55039500insTAG | CA2645835906 | PCSK9 | c.-339_-338insTAG (n.-339_-338insTAG) c.19_20insTAG (p.Arg6_Asp7insVal) | gnomAD v4 |
| 1 | g.55039500A>T | CA2645835913 | PCSK9 | c.-338A>T (n.-338A>T) c.20A>T (p.Asp7Val) | gnomAD v4 |
| 1 | g.55039501T>A | CA2598278138 | PCSK9 | c.-337T>A (n.-337T>A) c.21T>A (p.Asp7Glu) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.55039501T>G | CA2645835916 | PCSK9 | c.-337T>G (n.-337T>G) c.21T>G (p.Asp7Glu) | gnomAD v4 |
| 1 | g.55039503_55039519del | CA2645835914 | PCSK9 | c.-335_-319del (n.-335_-319del) c.23_39del (p.Leu8GlnfsTer6) | gnomAD v4 |
| 1 | g.55039502C>A | CA2645835919 | PCSK9 | c.-336C>A (n.-336C>A) c.22C>A (p.Leu8Met) | gnomAD v4 |
| 1 | g.55039502C>G | CA2570544661 | PCSK9 | c.-336C>G (n.-336C>G) c.22C>G (p.Leu8Val) | gnomAD v4 |
| 1 | g.55039502C>T | CA2645835920 | PCSK9 | c.-336C>T (n.-336C>T) c.22C>T (p.Leu8=) | gnomAD v4 |
| 1 | g.55039503T>C | CA2645835921 | PCSK9 | c.-335T>C (n.-335T>C) c.23T>C (p.Leu8Pro) | gnomAD v4 |
| 1 | g.55039504del | CA2645835923 | PCSK9 | c.-334del (n.-334del) c.24del (p.Arg9AlafsTer?) | gnomAD v4 |
| 1 | g.55039504G>A | CA2645835941 | PCSK9 | c.-334G>A (n.-334G>A) c.24G>A (p.Leu8=) | gnomAD v4 |
| 1 | g.55039504G>T | CA2645835942 | PCSK9 | c.-334G>T (n.-334G>T) c.24G>T (p.Leu8=) | gnomAD v4 |
| 1 | g.55039505C= | CA1167976192 | PCSK9 | c.-333C= (n.-333C=) c.25C= (p.Arg9=) | |
| 1 | g.55039505C>T | CA1167976191 | PCSK9 | c.-333C>T (n.-333C>T) c.25C>T (p.Arg9Cys) | dbSNP gnomAD v4 |
| 1 | g.55039505_55039517delinsCGCGCCCCAGGCG | CA1167976193 | PCSK9 | c.-333_-321delinsCGCGCCCCAGGCG (n.-333_-321delinsCGCGCCCCAGGCG) c.25_37delinsCGCGCCCCAGGCG (p.Arg9=) | |
| 1 | g.55039506G>A | CA1001927712 | PCSK9 | c.-332G>A (n.-332G>A) c.26G>A (p.Arg9His) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.55039506G= | CA1167976194 | PCSK9 | c.-332G= (n.-332G=) c.26G= (p.Arg9=) | |
| 1 | g.55039506G>T | CA2645835948 | PCSK9 | c.-332G>T (n.-332G>T) c.26G>T (p.Arg9Leu) | gnomAD v4 |
| 1 | g.55039506_55039517del | CA737022664 | PCSK9 | c.-332_-321del (n.-332_-321del) c.26_37del (p.Arg9_Val13delinsLeu) | dbSNP |
| 1 | g.55039506_55039507insGTGGT | CA2645835956 | PCSK9 | c.-332_-331insGTGGT (n.-332_-331insGTGGT) c.26_27insGTGGT (p.Ala10TrpfsTer?) | gnomAD v4 |
| 1 | g.55039507C>A | CA22791305 | PCSK9 | c.-331C>A (n.-331C>A) c.27C>A (p.Arg9=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.55039507C= | CA1167976195 | PCSK9 | c.-331C= (n.-331C=) c.27C= (p.Arg9=) | |
| 1 | g.55039507C>T | CA2645835966 | PCSK9 | c.-331C>T (n.-331C>T) c.27C>T (p.Arg9=) | dbSNP gnomAD v4 |
| 1 | g.55039507_55039513del | CA2645835958 | PCSK9 | c.-331_-325del (n.-331_-325del) c.27_33del (p.Pro11SerfsTer?) | gnomAD v4 |
| 1 | g.55039508G>A | CA2645835968 | PCSK9 | c.-330G>A (n.-330G>A) c.28G>A (p.Ala10Thr) | gnomAD v4 |
| 1 | g.55039508G= | CA1167976196 | PCSK9 | c.-330G= (n.-330G=) c.28G= (p.Ala10=) | |
| 1 | g.55039508G>T | CA1167976197 | PCSK9 | c.-330G>T (n.-330G>T) c.28G>T (p.Ala10Ser) | dbSNP gnomAD v4 |
| 1 | g.55039509C>A | CA2515382525 | PCSK9 | c.-329C>A (n.-329C>A) c.29C>A (p.Ala10Asp) | |
| 1 | g.55039512del | CA2645835970 | PCSK9 | c.-326del (n.-326del) c.32del (p.Pro11GlnfsTer?) | gnomAD v4 |
| 1 | g.55039510C>T | CA2743685331 | PCSK9 | c.-328C>T (n.-328C>T) c.30C>T (p.Ala10=) | |
| 1 | g.55039511C>G | CA2645835973 | PCSK9 | c.-327C>G (n.-327C>G) c.31C>G (p.Pro11Ala) | gnomAD v4 |
| 1 | g.55039511C>T | CA2645835974 | PCSK9 | c.-327C>T (n.-327C>T) c.31C>T (p.Pro11Ser) | gnomAD v4 |
| 1 | g.55039512C>A | CA2645835977 | PCSK9 | c.-326C>A (n.-326C>A) c.32C>A (p.Pro11Gln) | gnomAD v4 |
| 1 | g.55039513A>G | CA2645835978 | PCSK9 | c.-325A>G (n.-325A>G) c.33A>G (p.Pro11=) | gnomAD v4 |
| 1 | g.55039513A>T | CA2645835979 | PCSK9 | c.-325A>T (n.-325A>T) c.33A>T (p.Pro11=) | gnomAD v4 |
| 1 | g.55039515G>A | CA1167976199 | PCSK9 | c.-323G>A (n.-323G>A) c.35G>A (p.Gly12Asp) | dbSNP gnomAD v4 |
| 1 | g.55039515G= | CA1167976198 | PCSK9 | c.-323G= (n.-323G=) c.35G= (p.Gly12=) | |
| 1 | g.55039515G>T | CA2645835980 | PCSK9 | c.-323G>T (n.-323G>T) c.35G>T (p.Gly12Val) | gnomAD v4 |
| 1 | g.55039515_55039516delinsGC | CA1167976200 | PCSK9 | c.-323_-322delinsGC (n.-323_-322delinsGC) c.35_36delinsGC (p.Gly12=) | |
| 1 | g.55039516del | CA1167976201 | PCSK9 | c.-322del (n.-322del) c.36del (p.Val13SerfsTer?) | dbSNP |
| 1 | g.55039516C>A | CA22791306 | PCSK9 | c.-322C>A (n.-322C>A) c.36C>A (p.Gly12=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.55039516C= | CA1142983374 | PCSK9 | c.-322C= (n.-322C=) c.36C= (p.Gly12=) | |
| 1 | g.55039516C>T | CA22791307 | PCSK9 | c.-322C>T (n.-322C>T) c.36C>T (p.Gly12=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.55039517G>A | CA22791308 | PCSK9 | c.-321G>A (n.-321G>A) c.37G>A (p.Val13Ile) | dbSNP gnomAD v4 |
| 1 | g.55039517G= | CA1148275077 | PCSK9 | c.-321G= (n.-321G=) c.37G= (p.Val13=) | |
| 1 | g.55039517G>T | CA1167976202 | PCSK9 | c.-321G>T (n.-321G>T) c.37G>T (p.Val13Phe) | dbSNP 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 |