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.55039505_55039517delinsCGCGCCCCAGGCG | CA1167976193 | PCSK9 | c.-333_-321delinsCGCGCCCCAGGCG (n.-333_-321delinsCGCGCCCCAGGCG) c.25_37delinsCGCGCCCCAGGCG (p.Arg9=) | |
1 | g.55039506_55039517del | CA737022664 | PCSK9 | c.-332_-321del (n.-332_-321del) c.26_37del (p.Arg9_Val13delinsLeu) | dbSNP |
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 |