| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.55039874C>A | CA340482654 | PCSK9 | c.37C>A (p.Leu13Met) c.394C>A (p.Leu132Met) | gnomAD v4 |
| 1 | g.55039874C>G | CA340482655 | PCSK9 | c.37C>G (p.Leu13Val) c.394C>G (p.Leu132Val) | |
| 1 | g.55039874C>T | CA417957256 | PCSK9 | c.37C>T (p.Leu13=) c.394C>T (p.Leu132=) | |
| 1 | g.55039875T>A | CA340482656 | PCSK9 | c.38T>A (p.Leu13Gln) c.395T>A (p.Leu132Gln) | |
| 1 | g.55039875T>C | CA340482657 | PCSK9 | c.38T>C (p.Leu13Pro) c.395T>C (p.Leu132Pro) | |
| 1 | g.55039875T>G | CA340482658 | PCSK9 | c.38T>G (p.Leu13Arg) c.395T>G (p.Leu132Arg) | |
| 1 | g.55039876G>A | CA417957257 | PCSK9 | c.39G>A (p.Leu13=) c.396G>A (p.Leu132=) | gnomAD v4 |
| 1 | g.55039876G>C | CA417957258 | PCSK9 | c.39G>C (p.Leu13=) c.396G>C (p.Leu132=) | |
| 1 | g.55039876G>T | CA417957259 | PCSK9 | c.39G>T (p.Leu13=) c.396G>T (p.Leu132=) | gnomAD v4 |
| 1 | g.55039876_55039879delinsGCCA | CA1167976396 | PCSK9 | c.39_42delinsGCCA (p.Leu13=) c.396_399delinsGCCA (p.Leu132=) | |
| 1 | g.55039877C>A | CA340482662 | PCSK9 | c.40C>A (p.Pro14Thr) c.397C>A (p.Pro133Thr) | |
| 1 | g.55039877C= | CA1167976397 | PCSK9 | c.40C= (p.Pro14=) c.397C= (p.Pro133=) | |
| 1 | g.55039877C>G | CA340482661 | PCSK9 | c.40C>G (p.Pro14Ala) c.397C>G (p.Pro133Ala) | |
| 1 | g.55039877C>T | CA340482660 | PCSK9 | c.40C>T (p.Pro14Ser) c.397C>T (p.Pro133Ser) | ClinVar dbSNP gnomAD v4 |
| 1 | g.55039878_55039880del | CA340482659 | PCSK9 | c.41_43del (p.Pro14del) c.398_400del (p.Pro133del) | dbSNP |
| 1 | g.55039878C>A | CA340482663 | PCSK9 | c.41C>A (p.Pro14Gln) c.398C>A (p.Pro133Gln) | |
| 1 | g.55039878C= | CA1143465931 | PCSK9 | c.41C= (p.Pro14=) c.398C= (p.Pro133=) | |
| 1 | g.55039878C>G | CA340482664 | PCSK9 | c.41C>G (p.Pro14Arg) c.398C>G (p.Pro133Arg) | |
| 1 | g.55039878C>T | CA22791822 | PCSK9 | c.41C>T (p.Pro14Leu) c.398C>T (p.Pro133Leu) | dbSNP gnomAD v4 |
| 1 | g.55039878_55039879insGTC | CA2586966665 | PCSK9 | c.41_42insGTC (p.Pro14_Leu15insSer) c.398_399insGTC (p.Pro133_Leu134insSer) | |
| 1 | g.55039878_55039881delinsCACT | CA1167976399 | PCSK9 | c.41_44delinsCACT (p.Pro14=) c.398_401delinsCACT (p.Pro133=) | |
| 1 | g.55039878_55039887delinsCACTGCTGCT | CA1167976398 | PCSK9 | c.41_50delinsCACTGCTGCT (p.Pro14=) c.398_407delinsCACTGCTGCT (p.Pro133=) | |
| 1 | g.55039879A= | CA1167976400 | PCSK9 | c.42A= (p.Pro14=) c.399A= (p.Pro133=) | |
| 1 | g.55039879A>C | CA417957265 | PCSK9 | c.42A>C (p.Pro14=) c.399A>C (p.Pro133=) | gnomAD v4 |
| 1 | g.55039879A>G | CA417957264 | PCSK9 | c.42A>G (p.Pro14=) c.399A>G (p.Pro133=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.55039879A>T | CA417957263 | PCSK9 | c.42A>T (p.Pro14=) c.399A>T (p.Pro133=) | |
| 1 | g.55039879_55039881del | CA737023103 | PCSK9 | c.42_44del (p.Leu15del) c.399_401del (p.Leu134del) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.55039879_55039881dup | CA2695882064 | PCSK9 | c.42_44dup (p.Leu15_Leu16insLeu) c.399_401dup (p.Leu134_Leu135insLeu) | dbSNP |
| 1 | g.55039879_55039887del | CA913187506 | PCSK9 | c.42_50del (p.Leu15_Leu17del) c.399_407del (p.Leu134_Leu136del) | ClinVar dbSNP gnomAD v4 |
| 1 | g.55039879_55039888delinsACTGCTGCTG | CA1167976401 | PCSK9 | c.42_51delinsACTGCTGCTG (p.Pro14=) c.399_408delinsACTGCTGCTG (p.Pro133=) | |
| 1 | g.55039879_55039880insTG | CA645372371 | PCSK9 | c.42_43insTG (p.Leu15CysfsTer30) c.399_400insTG (p.Leu134CysfsTer30) | ClinVar dbSNP |
| 1 | g.55039879_55039880insATGCTG | CA523275408 | PCSK9 | c.42_43insATGCTG (p.Pro14_Leu15insMetLeu) c.399_400insATGCTG (p.Pro133_Leu134insMetLeu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.55039880C>A | CA340482665 | PCSK9 | c.43C>A (p.Leu15Met) c.400C>A (p.Leu134Met) | gnomAD v4 |
| 1 | g.55039880C= | CA1167976402 | PCSK9 | c.43C= (p.Leu15=) c.400C= (p.Leu134=) | |
| 1 | g.55039880C>G | CA340482666 | PCSK9 | c.43C>G (p.Leu15Val) c.400C>G (p.Leu134Val) | |
| 1 | g.55039880C>T | CA417957277 | PCSK9 | c.43C>T (p.Leu15=) c.400C>T (p.Leu134=) | dbSNP gnomAD v2 |
| 1 | g.55039880_55039902delinsCTGCTGCTGCTGCTGCTGCTGCT | CA1140578550 | PCSK9 | c.43_65delinsCTGCTGCTGCTGCTGCTGCTGCT (p.Leu15=) c.400_422delinsCTGCTGCTGCTGCTGCTGCTGCT (p.Leu134=) | |
| 1 | g.55039900_55039902dup | CA871469 | PCSK9 | c.63_65dup (p.Leu22_Leu23insLeu) c.420_422dup (p.Leu141_Leu142insLeu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
| 1 | g.55039897_55039902dup | CA871471 | PCSK9 | c.60_65dup (p.Leu22_Leu23insLeuLeu) c.417_422dup (p.Leu141_Leu142insLeuLeu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.55039894_55039902dup | CA871472 | PCSK9 | c.57_65dup (p.Leu22_Leu23insLeuLeuLeu) c.414_422dup (p.Leu141_Leu142insLeuLeuLeu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.55039891_55039902dup | CA871470 | PCSK9 | c.54_65dup (p.Leu22_Leu23insLeuLeuLeuLeu) c.411_422dup (p.Leu141_Leu142insLeuLeuLeuLeu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.55039888_55039902dup | CA916180833 | PCSK9 | c.51_65dup (p.Leu22_Leu23insLeuLeuLeuLeuLeu) c.408_422dup (p.Leu141_Leu142insLeuLeuLeuLeuLeu) | dbSNP |
| 1 | g.55039900_55039902del | CA871468 | PCSK9 | c.63_65del (p.Leu22del) c.420_422del (p.Leu141del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.55039897_55039902del | CA871473 | PCSK9 | c.60_65del (p.Leu21_Leu22del) c.417_422del (p.Leu140_Leu141del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.55039894_55039902del | CA417957276 | PCSK9 | c.57_65del (p.Leu20_Leu22del) c.414_422del (p.Leu139_Leu141del) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.55039891_55039902del | CA2743685337 | PCSK9 | c.54_65del (p.Leu19_Leu22del) c.411_422del (p.Leu138_Leu141del) | |
| 1 | g.55039880_55039881insCTG | CA645517246 | PCSK9 | c.43_44insCTG (p.Leu15delinsProVal) c.400_401insCTG (p.Leu134delinsProVal) | COSMIC |
| 1 | g.55039880_55039881insCTGCTG | CA1139655483 | PCSK9 | c.43_44insCTGCTG (p.Leu15delinsProAlaVal) c.400_401insCTGCTG (p.Leu134delinsProAlaVal) | |
| 1 | g.55039881T>A | CA340482668 | PCSK9 | c.44T>A (p.Leu15Gln) c.401T>A (p.Leu134Gln) | |
| 1 | g.55039881T>C | CA340482669 | PCSK9 | c.44T>C (p.Leu15Pro) c.401T>C (p.Leu134Pro) |