Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.55039576_55039666del | CA2645836121 | PCSK9 | c.-262_-172del (n.-262_-172del) c.96_186del (p.Arg32SerfsTer?) | gnomAD v4 |
1 | g.55039607_55039632dup | CA2645836235 | PCSK9 | c.-231_-206dup (n.-231_-206dup) c.127_152dup (p.Arg51SerfsTer5) | 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.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.55039612_55039617del | CA737022741 | PCSK9 | c.-226_-221del (n.-226_-221del) c.132_137del (p.Gly45_Val46del) | dbSNP |
1 | g.55039621_55039632del | CA2645836287 | PCSK9 | c.-217_-206del (n.-217_-206del) c.141_152del (p.Ser47_Val50del) | gnomAD v4 |
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 |
1 | g.55039619A= | CA1167976274 | PCSK9 | c.-219A= (n.-219A=) c.139A= (p.Ser47=) | |
1 | g.55039619A>T | CA737022752 | PCSK9 | c.-219A>T (n.-219A>T) c.139A>T (p.Ser47Cys) | dbSNP gnomAD v4 |
1 | g.55039620G>C | CA737022753 | PCSK9 | c.-218G>C (n.-218G>C) c.140G>C (p.Ser47Thr) | dbSNP |
1 | g.55039620G= | CA1167976275 | PCSK9 | c.-218G= (n.-218G=) c.140G= (p.Ser47=) | |
1 | g.55039620G>T | CA2645836298 | PCSK9 | c.-218G>T (n.-218G>T) c.140G>T (p.Ser47Ile) | gnomAD v4 |
1 | g.55039621C>A | CA2645836301 | PCSK9 | c.-217C>A (n.-217C>A) c.141C>A (p.Ser47Arg) | gnomAD v4 |
1 | g.55039621C>T | CA2645836300 | PCSK9 | c.-217C>T (n.-217C>T) c.141C>T (p.Ser47=) | gnomAD v4 |
1 | g.55039621_55039622insTCC | CA523275361 | PCSK9 | c.-217_-216insTCC (n.-217_-216insTCC) c.141_142insTCC (p.Ser47_Gln48insSer) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.55039622C>A | CA2645836303 | PCSK9 | c.-216C>A (n.-216C>A) c.142C>A (p.Gln48Lys) | gnomAD v4 |
1 | g.55039622C= | CA1167976276 | PCSK9 | c.-216C= (n.-216C=) c.142C= (p.Gln48=) | |
1 | g.55039622C>T | CA737022754 | PCSK9 | c.-216C>T (n.-216C>T) c.142C>T (p.Gln48Ter) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.55039623A>T | CA2645836306 | PCSK9 | c.-215A>T (n.-215A>T) c.143A>T (p.Gln48Leu) | gnomAD v4 |
1 | g.55039624G>T | CA2645836307 | PCSK9 | c.-214G>T (n.-214G>T) c.144G>T (p.Gln48His) | gnomAD v4 |
1 | g.55039625G>A | CA2645836308 | PCSK9 | c.-213G>A (n.-213G>A) c.145G>A (p.Ala49Thr) | gnomAD v4 |
1 | g.55039625G>T | CA2645836309 | PCSK9 | c.-213G>T (n.-213G>T) c.145G>T (p.Ala49Ser) | gnomAD v4 |
1 | g.55039626C>A | CA2645836310 | PCSK9 | c.-212C>A (n.-212C>A) c.146C>A (p.Ala49Glu) | gnomAD v4 |
1 | g.55039626C>T | CA2645836311 | PCSK9 | c.-212C>T (n.-212C>T) c.146C>T (p.Ala49Val) | gnomAD v4 |
1 | g.55039627A= | CA1167976277 | PCSK9 | c.-211A= (n.-211A=) c.147A= (p.Ala49=) | |
1 | g.55039627A>G | CA737022755 | PCSK9 | c.-211A>G (n.-211A>G) c.147A>G (p.Ala49=) | dbSNP |
1 | g.55039628G>A | CA2645836314 | PCSK9 | c.-210G>A (n.-210G>A) c.148G>A (p.Val50Met) | gnomAD v4 |
1 | g.55039628G>T | CA2645836315 | PCSK9 | c.-210G>T (n.-210G>T) c.148G>T (p.Val50Leu) | gnomAD v4 |
1 | g.55039629T>G | CA2645836316 | PCSK9 | c.-209T>G (n.-209T>G) c.149T>G (p.Val50Gly) | gnomAD v4 |
1 | g.55039630G>A | CA2645836317 | PCSK9 | c.-208G>A (n.-208G>A) c.150G>A (p.Val50=) | gnomAD v4 |
1 | g.55039630G>T | CA2645836318 | PCSK9 | c.-208G>T (n.-208G>T) c.150G>T (p.Val50=) | gnomAD v4 |
1 | g.55039633A>G | CA2645836319 | PCSK9 | c.-205A>G (n.-205A>G) c.153A>G (p.Arg51=) | gnomAD v4 |
1 | g.55039633A>T | CA2645836320 | PCSK9 | c.-205A>T (n.-205A>T) c.153A>T (p.Arg51Ser) | gnomAD v4 |
1 | g.55039634C>A | CA2645836324 | PCSK9 | c.-204C>A (n.-204C>A) c.154C>A (p.Leu52Met) | gnomAD v4 |
1 | g.55039634C= | CA1167976278 | PCSK9 | c.-204C= (n.-204C=) c.154C= (p.Leu52=) | |
1 | g.55039634C>G | CA2645836322 | PCSK9 | c.-204C>G (n.-204C>G) c.154C>G (p.Leu52Val) | gnomAD v4 |
1 | g.55039634C>T | CA1167976279 | PCSK9 | c.-204C>T (n.-204C>T) c.154C>T (p.Leu52=) | dbSNP gnomAD v4 |
1 | g.55039636G>T | CA2645836327 | PCSK9 | c.-202G>T (n.-202G>T) c.156G>T (p.Leu52=) | gnomAD v4 |
1 | g.55039637G>A | CA2645836329 | PCSK9 | c.-201G>A (n.-201G>A) c.157G>A (p.Ala53Thr) | gnomAD v4 |
1 | g.55039637G>T | CA2645836331 | PCSK9 | c.-201G>T (n.-201G>T) c.157G>T (p.Ala53Ser) | gnomAD v4 |
1 | g.55039638C>A | CA10611283 | PCSK9 | c.-200C>A (n.-200C>A) c.158C>A (p.Ala53Asp) | ClinVar dbSNP gnomAD v4 |
1 | g.55039638C= | CA1167976280 | PCSK9 | c.-200C= (n.-200C=) c.158C= (p.Ala53=) |