Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.55039781G>A | CA2645836790 | PCSK9 | c.-57G>A (n.-57G>A) c.301G>A (p.Asp101Asn) | gnomAD v4 |
1 | g.55039781G>T | CA2645836792 | PCSK9 | c.-57G>T (n.-57G>T) c.301G>T (p.Asp101Tyr) | gnomAD v4 |
1 | g.55039782A= | CA1167976352 | PCSK9 | c.-56A= (n.-56A=) c.302A= (p.Asp101=) | |
1 | g.55039782A>T | CA22791658 | PCSK9 | c.-56A>T (n.-56A>T) c.302A>T (p.Asp101Val) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.55039783C>A | CA2645836795 | PCSK9 | c.-55C>A (n.-55C>A) c.303C>A (p.Asp101Glu) | gnomAD v4 |
1 | g.55039783C>G | CA2645836797 | PCSK9 | c.-55C>G (n.-55C>G) c.303C>G (p.Asp101Glu) | gnomAD v4 |
1 | g.55039783C>T | CA2645836798 | PCSK9 | c.-55C>T (n.-55C>T) c.303C>T (p.Asp101=) | gnomAD v4 |
1 | g.55039784C>A | CA737022871 | PCSK9 | c.-54C>A (n.-54C>A) c.304C>A (p.Arg102Ser) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.55039784C= | CA1145622101 | PCSK9 | c.-54C= (n.-54C=) c.304C= (p.Arg102=) | |
1 | g.55039784C>G | CA523275389 | PCSK9 | c.-54C>G (n.-54C>G) c.304C>G (p.Arg102Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.55039784C>T | CA22791662 | PCSK9 | c.-54C>T (n.-54C>T) c.304C>T (p.Arg102Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.55039785G>A | CA22791666 | PCSK9 | c.-53G>A (n.-53G>A) c.305G>A (p.Arg102His) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.55039785G= | CA1167976353 | PCSK9 | c.-53G= (n.-53G=) c.305G= (p.Arg102=) | |
1 | g.55039785G>T | CA2645836800 | PCSK9 | c.-53G>T (n.-53G>T) c.305G>T (p.Arg102Leu) | gnomAD v4 |
1 | g.55039786C>A | CA2574381074 | PCSK9 | c.-52C>A (n.-52C>A) c.306C>A (p.Arg102=) | gnomAD v4 |
1 | g.55039786C= | CA1167976354 | PCSK9 | c.-52C= (n.-52C=) c.306C= (p.Arg102=) | |
1 | g.55039786C>T | CA737022876 | PCSK9 | c.-52C>T (n.-52C>T) c.306C>T (p.Arg102=) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.55039787G>A | CA2645836802 | PCSK9 | c.-51G>A (n.-51G>A) c.307G>A (p.Ala103Thr) | dbSNP gnomAD v4 |
1 | g.55039787G= | CA1167976355 | PCSK9 | c.-51G= (n.-51G=) c.307G= (p.Ala103=) | |
1 | g.55039787G>T | CA737022880 | PCSK9 | c.-51G>T (n.-51G>T) c.307G>T (p.Ala103Ser) | dbSNP gnomAD v4 |
1 | g.55039788C>A | CA2645836805 | PCSK9 | c.-50C>A (n.-50C>A) c.308C>A (p.Ala103Glu) | gnomAD v4 |
1 | g.55039788C>G | CA2695881984 | PCSK9 | c.-50C>G (n.-50C>G) c.308C>G (p.Ala103Gly) | dbSNP |
1 | g.55039788C>T | CA2645836807 | PCSK9 | c.-50C>T (n.-50C>T) c.308C>T (p.Ala103Val) | gnomAD v4 |
1 | g.55039789A= | CA1167976356 | PCSK9 | c.-49A= (n.-49A=) c.309A= (p.Ala103=) | |
1 | g.55039789A>G | CA22791680 | PCSK9 | c.-49A>G (n.-49A>G) c.309A>G (p.Ala103=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.55039790C>A | CA2574381075 | PCSK9 | c.-48C>A (n.-48C>A) c.310C>A (p.Arg104=) | gnomAD v4 |
1 | g.55039790C= | CA1167976357 | PCSK9 | c.-48C= (n.-48C=) c.310C= (p.Arg104=) | |
1 | g.55039790C>T | CA523275390 | PCSK9 | c.-48C>T (n.-48C>T) c.310C>T (p.Arg104Trp) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.55039791G>A | CA523275391 | PCSK9 | c.-47G>A (n.-47G>A) c.311G>A (p.Arg104Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.55039791G>C | CA523275392 | PCSK9 | c.-47G>C (n.-47G>C) c.311G>C (p.Arg104Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.55039791G= | CA1167976358 | PCSK9 | c.-47G= (n.-47G=) c.311G= (p.Arg104=) | |
1 | g.55039791G>T | CA2645836813 | PCSK9 | c.-47G>T (n.-47G>T) c.311G>T (p.Arg104Leu) | gnomAD v4 |
1 | g.55039792G>A | CA22791683 | PCSK9 | c.-46G>A (n.-46G>A) c.312G>A (p.Arg104=) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
1 | g.55039792G>C | CA2645836821 | PCSK9 | c.-46G>C (n.-46G>C) c.312G>C (p.Arg104=) | gnomAD v4 |
1 | g.55039792G= | CA1146966331 | PCSK9 | c.-46G= (n.-46G=) c.312G= (p.Arg104=) | |
1 | g.55039792G>T | CA2645836823 | PCSK9 | c.-46G>T (n.-46G>T) c.312G>T (p.Arg104=) | gnomAD v4 |
1 | g.55039793C>A | CA2645836827 | PCSK9 | c.-45C>A (n.-45C>A) c.313C>A (p.Pro105Thr) | gnomAD v4 |
1 | g.55039793C= | CA1167976359 | PCSK9 | c.-45C= (n.-45C=) c.313C= (p.Pro105=) | |
1 | g.55039793C>T | CA523275393 | PCSK9 | c.-45C>T (n.-45C>T) c.313C>T (p.Pro105Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.55039794C>A | CA2645836830 | PCSK9 | c.-44C>A (n.-44C>A) c.314C>A (p.Pro105His) | gnomAD v4 |
1 | g.55039795T>A | CA22791702 | PCSK9 | c.-43T>A (n.-43T>A) c.315T>A (p.Pro105=) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.55039795T= | CA1167976360 | PCSK9 | c.-43T= (n.-43T=) c.315T= (p.Pro105=) | |
1 | g.55039796C= | CA1167976361 | PCSK9 | c.-42C= (n.-42C=) c.316C= (p.Leu106=) | |
1 | g.55039796C>T | CA523275394 | PCSK9 | c.-42C>T (n.-42C>T) c.316C>T (p.Leu106=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.55039797T>C | CA2645836833 | PCSK9 | c.-41T>C (n.-41T>C) c.317T>C (p.Leu106Pro) | gnomAD v4 |
1 | g.55039798A>G | CA2645836835 | PCSK9 | c.-40A>G (n.-40A>G) c.318A>G (p.Leu106=) | gnomAD v4 |
1 | g.55039798A>T | CA2645836834 | PCSK9 | c.-40A>T (n.-40A>T) c.318A>T (p.Leu106=) | gnomAD v4 |
1 | g.55039799G>C | CA1167976363 | PCSK9 | c.-39G>C (n.-39G>C) c.319G>C (p.Gly107Arg) | dbSNP |
1 | g.55039799G= | CA1167976362 | PCSK9 | c.-39G= (n.-39G=) c.319G= (p.Gly107=) | |
1 | g.55039799G>T | CA2574381076 | PCSK9 | c.-39G>T (n.-39G>T) c.319G>T (p.Gly107Cys) | gnomAD v4 |
1 | g.55039800G>A | CA2645836839 | PCSK9 | c.-38G>A (n.-38G>A) c.320G>A (p.Gly107Asp) | gnomAD v4 |
1 | g.55039800G>C | CA2645836841 | PCSK9 | c.-38G>C (n.-38G>C) c.320G>C (p.Gly107Ala) | gnomAD v4 |
1 | g.55039800G= | CA1167976364 | PCSK9 | c.-38G= (n.-38G=) c.320G= (p.Gly107=) | |
1 | g.55039800G>T | CA737022924 | PCSK9 | c.-38G>T (n.-38G>T) c.320G>T (p.Gly107Val) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.55039801T>A | CA2645836847 | PCSK9 | c.-37T>A (n.-37T>A) c.321T>A (p.Gly107=) | gnomAD v4 |
1 | g.55039801T>C | CA2645836849 | PCSK9 | c.-37T>C (n.-37T>C) c.321T>C (p.Gly107=) | gnomAD v4 |
1 | g.55039802C>A | CA2645836852 | PCSK9 | c.-36C>A (n.-36C>A) c.322C>A (p.Leu108Ile) | gnomAD v4 |
1 | g.55039802C= | CA1148458712 | PCSK9 | c.-36C= (n.-36C=) c.322C= (p.Leu108=) | |
1 | g.55039802C>G | CA2645836853 | PCSK9 | c.-36C>G (n.-36C>G) c.322C>G (p.Leu108Val) | gnomAD v4 |
1 | g.55039802C>T | CA041593 | PCSK9 | c.-36C>T (n.-36C>T) c.322C>T (p.Leu108Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.55039805_55039807del | CA2645836850 | PCSK9 | c.-33_-31del (n.-33_-31del) c.325_327del (p.Leu109del) | gnomAD v4 |
1 | g.55039803T>C | CA2645836869 | PCSK9 | c.-35T>C (n.-35T>C) c.323T>C (p.Leu108Pro) | dbSNP gnomAD v4 |
1 | g.55039804C>A | CA2645836871 | PCSK9 | c.-34C>A (n.-34C>A) c.324C>A (p.Leu108=) | gnomAD v4 |
1 | g.55039804C= | CA1147990120 | PCSK9 | c.-34C= (n.-34C=) c.324C= (p.Leu108=) | |
1 | g.55039804C>T | CA041549 | PCSK9 | c.-34C>T (n.-34C>T) c.324C>T (p.Leu108=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.55039805C>A | CA523275395 | PCSK9 | c.-33C>A (n.-33C>A) c.325C>A (p.Leu109Ile) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.55039805C= | CA1167976365 | PCSK9 | c.-33C= (n.-33C=) c.325C= (p.Leu109=) | |
1 | g.55039805C>G | CA523275396 | PCSK9 | c.-33C>G (n.-33C>G) c.325C>G (p.Leu109Val) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.55039805C>T | CA2645836880 | PCSK9 | c.-33C>T (n.-33C>T) c.325C>T (p.Leu109Phe) | gnomAD v4 |
1 | g.55039806T>C | CA041497 | PCSK9 | c.-32T>C (n.-32T>C) c.326T>C (p.Leu109Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.55039806T= | CA1167976366 | PCSK9 | c.-32T= (n.-32T=) c.326T= (p.Leu109=) | |
1 | g.55039807C>A | CA2529528035 | PCSK9 | c.-31C>A (n.-31C>A) c.327C>A (p.Leu109=) | gnomAD v4 |
1 | g.55039807C>G | CA2645836887 | PCSK9 | c.-31C>G (n.-31C>G) c.327C>G (p.Leu109=) | gnomAD v4 |
1 | g.55039807C>T | CA2645836888 | PCSK9 | c.-31C>T (n.-31C>T) c.327C>T (p.Leu109=) | gnomAD v4 |
1 | g.55039808G>A | CA523275397 | PCSK9 | c.-30G>A (n.-30G>A) c.328G>A (p.Ala110Thr) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.55039808G>C | CA041380 | PCSK9 | c.-30G>C (n.-30G>C) c.328G>C (p.Ala110Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.55039808G= | CA1149060560 | PCSK9 | c.-30G= (n.-30G=) c.328G= (p.Ala110=) | |
1 | g.55039808G>T | CA2645836891 | PCSK9 | c.-30G>T (n.-30G>T) c.328G>T (p.Ala110Ser) | gnomAD v4 |
1 | g.55039809C>A | CA2645836892 | PCSK9 | c.-29C>A (n.-29C>A) c.329C>A (p.Ala110Asp) | gnomAD v4 |
1 | g.55039809C= | CA1167976367 | PCSK9 | c.-29C= (n.-29C=) c.329C= (p.Ala110=) | |
1 | g.55039809C>T | CA523275398 | PCSK9 | c.-29C>T (n.-29C>T) c.329C>T (p.Ala110Val) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.55039810C>A | CA2645836893 | PCSK9 | c.-28C>A (n.-28C>A) c.330C>A (p.Ala110=) | gnomAD v4 |
1 | g.55039810C= | CA1144133744 | PCSK9 | c.-28C= (n.-28C=) c.330C= (p.Ala110=) | |
1 | g.55039810C>G | CA22791716 | PCSK9 | c.-28C>G (n.-28C>G) c.330C>G (p.Ala110=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.55039810C>T | CA2645836894 | PCSK9 | c.-28C>T (n.-28C>T) c.330C>T (p.Ala110=) | gnomAD v4 |
1 | g.55039811A>G | CA2645836895 | PCSK9 | c.-27A>G (n.-27A>G) c.331A>G (p.Arg111Gly) | gnomAD v4 |
1 | g.55039812G>A | CA041091 | PCSK9 | c.-26G>A (n.-26G>A) c.332G>A (p.Arg111Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.55039812G= | CA1140475623 | PCSK9 | c.-26G= (n.-26G=) c.332G= (p.Arg111=) | |
1 | g.55039812G>T | CA2645836901 | PCSK9 | c.-26G>T (n.-26G>T) c.332G>T (p.Arg111Met) | gnomAD v4 |
1 | g.55039814del | CA2743685336 | PCSK9 | c.-24del (n.-24del) c.334del (p.Thr112GlnfsTer?) | |
1 | g.55039814A>G | CA2645836903 | PCSK9 | c.-24A>G (n.-24A>G) c.334A>G (p.Thr112Ala) | gnomAD v4 |
1 | g.55039815C= | CA1167976368 | PCSK9 | c.-23C= (n.-23C=) c.335C= (p.Thr112=) | |
1 | g.55039815C>G | CA2645836904 | PCSK9 | c.-23C>G (n.-23C>G) c.335C>G (p.Thr112Arg) | gnomAD v4 |
1 | g.55039815C>T | CA523275399 | PCSK9 | c.-23C>T (n.-23C>T) c.335C>T (p.Thr112Ile) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.55039816A= | CA1167976369 | PCSK9 | c.-22A= (n.-22A=) c.336A= (p.Thr112=) | |
1 | g.55039816A>C | CA523275400 | PCSK9 | c.-22A>C (n.-22A>C) c.336A>C (p.Thr112=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.55039816A>G | CA2645836910 | PCSK9 | c.-22A>G (n.-22A>G) c.336A>G (p.Thr112=) | gnomAD v4 |
1 | g.55039816A>T | CA2645836911 | PCSK9 | c.-22A>T (n.-22A>T) c.336A>T (p.Thr112=) | gnomAD v4 |
1 | g.55039817G>A | CA523275401 | PCSK9 | c.-21G>A (n.-21G>A) c.337G>A (p.Ala113Thr) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.55039817G= | CA1167976370 | PCSK9 | c.-21G= (n.-21G=) c.337G= (p.Ala113=) | |
1 | g.55039817G>T | CA2645836917 | PCSK9 | c.-21G>T (n.-21G>T) c.337G>T (p.Ala113Ser) | gnomAD v4 |
1 | g.55039818del | CA2574381077 | PCSK9 | c.-20del (n.-20del) c.338del (p.Ala113GlufsTer?) | |
1 | g.55039818C>A | CA2645836920 | PCSK9 | c.-20C>A (n.-20C>A) c.338C>A (p.Ala113Glu) | gnomAD v4 |
1 | g.55039818C>T | CA2645836921 | PCSK9 | c.-20C>T (n.-20C>T) c.338C>T (p.Ala113Val) | gnomAD v4 |
1 | g.55039819A>C | CA2645836924 | PCSK9 | c.-19A>C (n.-19A>C) c.339A>C (p.Ala113=) | gnomAD v4 |
1 | g.55039820A>G | CA2645836926 | PCSK9 | c.-18A>G (n.-18A>G) c.340A>G (p.Thr114Ala) | gnomAD v4 |
1 | g.55039821C>A | CA2645836929 | PCSK9 | c.-17C>A (n.-17C>A) c.341C>A (p.Thr114Asn) | gnomAD v4 |
1 | g.55039821C= | CA1167976371 | PCSK9 | c.-17C= (n.-17C=) c.341C= (p.Thr114=) | |
1 | g.55039821C>T | CA523275402 | PCSK9 | c.-17C>T (n.-17C>T) c.341C>T (p.Thr114Ile) | dbSNP gnomAD v2 |
1 | g.55039822C>A | CA2645836931 | PCSK9 | c.-16C>A (n.-16C>A) c.342C>A (p.Thr114=) | gnomAD v4 |
1 | g.55039822C= | CA1167976372 | PCSK9 | c.-16C= (n.-16C=) c.342C= (p.Thr114=) | |
1 | g.55039822C>T | CA22791752 | PCSK9 | c.-16C>T (n.-16C>T) c.342C>T (p.Thr114=) | dbSNP gnomAD v4 |
1 | g.55039823del | CA2645836934 | PCSK9 | c.-15del (n.-15del) c.343del (p.Ser115LeufsTer?) | gnomAD v4 |
1 | g.55039823T>A | CA2645836937 | PCSK9 | c.-15T>A (n.-15T>A) c.343T>A (p.Ser115Thr) | gnomAD v4 |
1 | g.55039823T>C | CA2645836935 | PCSK9 | c.-15T>C (n.-15T>C) c.343T>C (p.Ser115Pro) | gnomAD v4 |
1 | g.55039824C>A | CA2645836939 | PCSK9 | c.-14C>A (n.-14C>A) c.344C>A (p.Ser115Tyr) | gnomAD v4 |
1 | g.55039824C>T | CA2645836940 | PCSK9 | c.-14C>T (n.-14C>T) c.344C>T (p.Ser115Phe) | gnomAD v4 |
1 | g.55039825T>C | CA737022971 | PCSK9 | c.-13T>C (n.-13T>C) c.345T>C (p.Ser115=) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.55039825T= | CA1167976373 | PCSK9 | c.-13T= (n.-13T=) c.345T= (p.Ser115=) | |
1 | g.55039826C>A | CA22791757 | PCSK9 | c.-12C>A (n.-12C>A) c.346C>A (p.Pro116Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.55039826C= | CA1142547596 | PCSK9 | c.-12C= (n.-12C=) c.346C= (p.Pro116=) | |
1 | g.55039826C>G | CA1001927918 | PCSK9 | c.-12C>G (n.-12C>G) c.346C>G (p.Pro116Ala) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.55039826C>T | CA2645836945 | PCSK9 | c.-12C>T (n.-12C>T) c.346C>T (p.Pro116Ser) | gnomAD v4 |
1 | g.55039829del | CA2645836942 | PCSK9 | c.-9del (n.-9del) c.349del (p.Leu117TrpfsTer?) | gnomAD v4 |
1 | g.55039827C>A | CA523275403 | PCSK9 | c.-11C>A (n.-11C>A) c.347C>A (p.Pro116His) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.55039827C= | CA1167976374 | PCSK9 | c.-11C= (n.-11C=) c.347C= (p.Pro116=) | |
1 | g.55039827C>G | CA2645836947 | PCSK9 | c.-11C>G (n.-11C>G) c.347C>G (p.Pro116Arg) | gnomAD v4 |
1 | g.55039827C>T | CA523275404 | PCSK9 | c.-11C>T (n.-11C>T) c.347C>T (p.Pro116Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.55039828C>A | CA2645836949 | PCSK9 | c.-10C>A (n.-10C>A) c.348C>A (p.Pro116=) | gnomAD v4 |
1 | g.55039828C= | CA1167976375 | PCSK9 | c.-10C= (n.-10C=) c.348C= (p.Pro116=) | |
1 | g.55039828C>T | CA523275405 | PCSK9 | c.-10C>T (n.-10C>T) c.348C>T (p.Pro116=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.55039829C>A | CA2645836957 | PCSK9 | c.-9C>A (n.-9C>A) c.349C>A (p.Leu117Met) | gnomAD v4 |
1 | g.55039829C= | CA1167976376 | PCSK9 | c.-9C= (n.-9C=) c.349C= (p.Leu117=) | |
1 | g.55039829C>T | CA523275406 | PCSK9 | c.-9C>T (n.-9C>T) c.349C>T (p.Leu117=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.55039830T>A | CA2645836967 | PCSK9 | c.-8T>A (n.-8T>A) c.350T>A (p.Leu117Gln) | gnomAD v4 |
1 | g.55039830T>C | CA10588858 | PCSK9 | c.-8T>C (n.-8T>C) c.350T>C (p.Leu117Pro) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.55039830T= | CA1167976377 | PCSK9 | c.-8T= (n.-8T=) c.350T= (p.Leu117=) | |
1 | g.55039831G>A | CA1001927927 | PCSK9 | c.-7G>A (n.-7G>A) c.351G>A (p.Leu117=) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.55039831G= | CA1167976378 | PCSK9 | c.-7G= (n.-7G=) c.351G= (p.Leu117=) | |
1 | g.55039831G>T | CA2645836970 | PCSK9 | c.-7G>T (n.-7G>T) c.351G>T (p.Leu117=) | gnomAD v4 |
1 | g.55039832G>A | CA2645836971 | PCSK9 | c.-6G>A (n.-6G>A) c.352G>A (p.Ala118Thr) | gnomAD v4 |
1 | g.55039833C>A | CA2645836973 | PCSK9 | c.-5C>A (n.-5C>A) c.353C>A (p.Ala118Asp) | gnomAD v4 |
1 | g.55039833C>T | CA2645836974 | PCSK9 | c.-5C>T (n.-5C>T) c.353C>T (p.Ala118Val) | gnomAD v4 |
1 | g.55039834C>A | CA523275407 | PCSK9 | c.-4C>A (n.-4C>A) c.354C>A (p.Ala118=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.55039834C= | CA1167976379 | PCSK9 | c.-4C= (n.-4C=) c.354C= (p.Ala118=) | |
1 | g.55039834C>G | CA2645836976 | PCSK9 | c.-4C>G (n.-4C>G) c.354C>G (p.Ala118=) | gnomAD v4 |
1 | g.55039835C>A | CA2645836980 | PCSK9 | c.-3C>A (n.-3C>A) c.355C>A (p.Leu119Ile) | gnomAD v4 |
1 | g.55039836T>A | CA2645836982 | PCSK9 | c.-2T>A (n.-2T>A) c.356T>A (p.Leu119His) | gnomAD v4 |
1 | g.55039836T>C | CA2645836983 | PCSK9 | c.-2T>C (n.-2T>C) c.356T>C (p.Leu119Pro) | gnomAD v4 |
1 | g.55039837C>A | CA2645836985 | PCSK9 | c.-1C>A (n.-1C>A) c.357C>A (p.Leu119=) | gnomAD v4 |
1 | g.55039837C>G | CA2645836987 | PCSK9 | c.-1C>G (n.-1C>G) c.357C>G (p.Leu119=) | gnomAD v4 |
1 | g.55039837C>T | CA2645836988 | PCSK9 | c.-1C>T (n.-1C>T) c.357C>T (p.Leu119=) | gnomAD v4 |
1 | g.55039838A>C | CA340482581 | PCSK9 | c.1A>C (p.Met1Leu) c.358A>C (p.Met120Leu) | |
1 | g.55039838A>G | CA340482579 | PCSK9 | c.1A>G (p.Met1Val) c.358A>G (p.Met120Val) | gnomAD v4 COSMIC COSMIC |
1 | g.55039838A>T | CA340482580 | PCSK9 | c.1A>T (p.Met1Leu) c.358A>T (p.Met120Leu) | gnomAD v4 |
1 | g.55039839T>A | CA340482582 | PCSK9 | c.2T>A (p.Met1Lys) c.359T>A (p.Met120Lys) | |
1 | g.55039839T>C | CA340482583 | PCSK9 | c.2T>C (p.Met1Thr) c.359T>C (p.Met120Thr) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.55039839T>G | CA340482584 | PCSK9 | c.2T>G (p.Met1Arg) c.359T>G (p.Met120Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.55039839T= | CA1167976380 | PCSK9 | c.2T= (p.Met1=) c.359T= (p.Met120=) | |
1 | g.55039840G>A | CA340482585 | PCSK9 | c.3G>A (p.Met1Ile) c.360G>A (p.Met120Ile) | |
1 | g.55039840G>C | CA340482586 | PCSK9 | c.3G>C (p.Met1Ile) c.360G>C (p.Met120Ile) | |
1 | g.55039840G>T | CA340482587 | PCSK9 | c.3G>T (p.Met1Ile) c.360G>T (p.Met120Ile) | gnomAD v4 |
1 | g.55039841G>A | CA340482588 | PCSK9 | c.4G>A (p.Gly2Ser) c.361G>A (p.Gly121Ser) | gnomAD v4 |
1 | g.55039841G>C | CA340482589 | PCSK9 | c.4G>C (p.Gly2Arg) c.361G>C (p.Gly121Arg) | |
1 | g.55039841G>T | CA340482590 | PCSK9 | c.4G>T (p.Gly2Cys) c.361G>T (p.Gly121Cys) | gnomAD v4 |
1 | g.55039842G>A | CA22791777 | PCSK9 | c.5G>A (p.Gly2Asp) c.362G>A (p.Gly121Asp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.55039842G>C | CA340482592 | PCSK9 | c.5G>C (p.Gly2Ala) c.362G>C (p.Gly121Ala) | |
1 | g.55039842G= | CA1167976381 | PCSK9 | c.5G= (p.Gly2=) c.362G= (p.Gly121=) | |
1 | g.55039842G>T | CA340482591 | PCSK9 | c.5G>T (p.Gly2Val) c.362G>T (p.Gly121Val) | gnomAD v4 |
1 | g.55039843C>A | CA417957221 | PCSK9 | c.6C>A (p.Gly2=) c.363C>A (p.Gly121=) | gnomAD v4 |
1 | g.55039843C= | CA1167976382 | PCSK9 | c.6C= (p.Gly2=) c.363C= (p.Gly121=) | |
1 | g.55039843C>G | CA417957222 | PCSK9 | c.6C>G (p.Gly2=) c.363C>G (p.Gly121=) | |
1 | g.55039843C>T | CA417957223 | PCSK9 | c.6C>T (p.Gly2=) c.363C>T (p.Gly121=) | ClinVar dbSNP gnomAD v4 |
1 | g.55039844A>C | CA340482593 | PCSK9 | c.7A>C (p.Thr3Pro) c.364A>C (p.Thr122Pro) | |
1 | g.55039844A>G | CA340482594 | PCSK9 | c.7A>G (p.Thr3Ala) c.364A>G (p.Thr122Ala) | |
1 | g.55039844A>T | CA340482595 | PCSK9 | c.7A>T (p.Thr3Ser) c.364A>T (p.Thr122Ser) | |
1 | g.55039845C>A | CA22791778 | PCSK9 | c.8C>A (p.Thr3Asn) c.365C>A (p.Thr122Asn) | ClinVar dbSNP |
1 | g.55039845C= | CA1167976383 | PCSK9 | c.8C= (p.Thr3=) c.365C= (p.Thr122=) | |
1 | g.55039845C>G | CA340482596 | PCSK9 | c.8C>G (p.Thr3Ser) c.365C>G (p.Thr122Ser) | |
1 | g.55039845C>T | CA340482597 | PCSK9 | c.8C>T (p.Thr3Ile) c.365C>T (p.Thr122Ile) | dbSNP gnomAD v4 |
1 | g.55039846C>A | CA417957226 | PCSK9 | c.9C>A (p.Thr3=) c.366C>A (p.Thr122=) | |
1 | g.55039846C= | CA1167976384 | PCSK9 | c.9C= (p.Thr3=) c.366C= (p.Thr122=) | |
1 | g.55039846C>G | CA417957228 | PCSK9 | c.9C>G (p.Thr3=) c.366C>G (p.Thr122=) | gnomAD v4 |
1 | g.55039846C>T | CA417957229 | PCSK9 | c.9C>T (p.Thr3=) c.366C>T (p.Thr122=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.55039847G>A | CA035116 | PCSK9 | c.10G>A (p.Val4Ile) c.367G>A (p.Val123Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.55039847G>C | CA340482598 | PCSK9 | c.10G>C (p.Val4Leu) c.367G>C (p.Val123Leu) | ClinVar dbSNP |
1 | g.55039847G= | CA1142864436 | PCSK9 | c.10G= (p.Val4=) c.367G= (p.Val123=) | |
1 | g.55039847G>T | CA035132 | PCSK9 | c.10G>T (p.Val4Phe) c.367G>T (p.Val123Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.55039848T>A | CA340482599 | PCSK9 | c.11T>A (p.Val4Asp) c.368T>A (p.Val123Asp) | |
1 | g.55039848T>C | CA340482600 | PCSK9 | c.11T>C (p.Val4Ala) c.368T>C (p.Val123Ala) | |
1 | g.55039848T>G | CA340482601 | PCSK9 | c.11T>G (p.Val4Gly) c.368T>G (p.Val123Gly) | |
1 | g.55039848T= | CA1167976385 | PCSK9 | c.11T= (p.Val4=) c.368T= (p.Val123=) | |
1 | g.55039848_55039849insG | CA737023026 | PCSK9 | c.11_12insG (p.Ser5GlnfsTer?) c.368_369insG (p.Ser124GlnfsTer?) | dbSNP |
1 | g.55039849C>A | CA417957231 | PCSK9 | c.12C>A (p.Val4=) c.369C>A (p.Val123=) | COSMIC COSMIC |
1 | g.55039849C>G | CA417957232 | PCSK9 | c.12C>G (p.Val4=) c.369C>G (p.Val123=) | |
1 | g.55039849C>T | CA417957233 | PCSK9 | c.12C>T (p.Val4=) c.369C>T (p.Val123=) | ClinVar gnomAD v4 |
1 | g.55039850A>C | CA340482603 | PCSK9 | c.13A>C (p.Ser5Arg) c.370A>C (p.Ser124Arg) | |
1 | g.55039850A>G | CA340482604 | PCSK9 | c.13A>G (p.Ser5Gly) c.370A>G (p.Ser124Gly) | COSMIC COSMIC |
1 | g.55039850A>T | CA340482602 | PCSK9 | c.13A>T (p.Ser5Cys) c.370A>T (p.Ser124Cys) | |
1 | g.55039851G>A | CA340482605 | PCSK9 | c.14G>A (p.Ser5Asn) c.371G>A (p.Ser124Asn) | gnomAD v4 |
1 | g.55039851G>C | CA340482606 | PCSK9 | c.14G>C (p.Ser5Thr) c.371G>C (p.Ser124Thr) | gnomAD v4 |
1 | g.55039851G>T | CA340482607 | PCSK9 | c.14G>T (p.Ser5Ile) c.371G>T (p.Ser124Ile) | COSMIC COSMIC |
1 | g.55039852C>A | CA340482608 | PCSK9 | c.15C>A (p.Ser5Arg) c.372C>A (p.Ser124Arg) | |
1 | g.55039852C>G | CA340482609 | PCSK9 | c.15C>G (p.Ser5Arg) c.372C>G (p.Ser124Arg) | |
1 | g.55039852C>T | CA417957235 | PCSK9 | c.15C>T (p.Ser5=) c.372C>T (p.Ser124=) | gnomAD v4 |
1 | g.55039853T>A | CA340482610 | PCSK9 | c.16T>A (p.Ser6Thr) c.373T>A (p.Ser125Thr) | gnomAD v4 |
1 | g.55039853T>C | CA340482611 | PCSK9 | c.16T>C (p.Ser6Pro) c.373T>C (p.Ser125Pro) | |
1 | g.55039853T>G | CA340482612 | PCSK9 | c.16T>G (p.Ser6Ala) c.373T>G (p.Ser125Ala) | |
1 | g.55039854C>A | CA340482613 | PCSK9 | c.17C>A (p.Ser6Tyr) c.374C>A (p.Ser125Tyr) | gnomAD v4 |
1 | g.55039854C= | CA1167976386 | PCSK9 | c.17C= (p.Ser6=) c.374C= (p.Ser125=) | |
1 | g.55039854C>G | CA340482614 | PCSK9 | c.17C>G (p.Ser6Cys) c.374C>G (p.Ser125Cys) | |
1 | g.55039854C>T | CA340482615 | PCSK9 | c.17C>T (p.Ser6Phe) c.374C>T (p.Ser125Phe) | ClinVar dbSNP |
1 | g.55039855C>A | CA417957236 | PCSK9 | c.18C>A (p.Ser6=) c.375C>A (p.Ser125=) | gnomAD v4 |
1 | g.55039855C>G | CA417957238 | PCSK9 | c.18C>G (p.Ser6=) c.375C>G (p.Ser125=) | |
1 | g.55039855C>T | CA417957237 | PCSK9 | c.18C>T (p.Ser6=) c.375C>T (p.Ser125=) | |
1 | g.55039856A= | CA1167976387 | PCSK9 | c.19A= (p.Arg7=) c.376A= (p.Arg126=) | |
1 | g.55039856A>C | CA417957239 | PCSK9 | c.19A>C (p.Arg7=) c.376A>C (p.Arg126=) | gnomAD v4 |
1 | g.55039856A>G | CA040190 | PCSK9 | c.19A>G (p.Arg7Gly) c.376A>G (p.Arg126Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.55039856A>T | CA340482616 | PCSK9 | c.19A>T (p.Arg7Trp) c.376A>T (p.Arg126Trp) | |
1 | g.55039857G>A | CA340482619 | PCSK9 | c.20G>A (p.Arg7Lys) c.377G>A (p.Arg126Lys) | |
1 | g.55039857G>C | CA340482618 | PCSK9 | c.20G>C (p.Arg7Thr) c.377G>C (p.Arg126Thr) | |
1 | g.55039857G>T | CA340482617 | PCSK9 | c.20G>T (p.Arg7Met) c.377G>T (p.Arg126Met) | |
1 | g.55039858G>A | CA417957241 | PCSK9 | c.21G>A (p.Arg7=) c.378G>A (p.Arg126=) | ClinVar dbSNP |
1 | g.55039858G>C | CA340482620 | PCSK9 | c.21G>C (p.Arg7Ser) c.378G>C (p.Arg126Ser) | |
1 | g.55039858G>T | CA340482621 | PCSK9 | c.21G>T (p.Arg7Ser) c.378G>T (p.Arg126Ser) | |
1 | g.55039859C>A | CA417957242 | PCSK9 | c.22C>A (p.Arg8=) c.379C>A (p.Arg127=) | gnomAD v4 |
1 | g.55039859C= | CA1167976388 | PCSK9 | c.22C= (p.Arg8=) c.379C= (p.Arg127=) | |
1 | g.55039859C>G | CA340482622 | PCSK9 | c.22C>G (p.Arg8Gly) c.379C>G (p.Arg127Gly) | |
1 | g.55039859C>T | CA340482623 | PCSK9 | c.22C>T (p.Arg8Trp) c.379C>T (p.Arg127Trp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.55039860G>A | CA22791797 | PCSK9 | c.23G>A (p.Arg8Gln) c.380G>A (p.Arg127Gln) | ClinVar dbSNP gnomAD v4 |
1 | g.55039860G>C | CA340482624 | PCSK9 | c.23G>C (p.Arg8Pro) c.380G>C (p.Arg127Pro) | gnomAD v4 |
1 | g.55039860G= | CA1167976389 | PCSK9 | c.23G= (p.Arg8=) c.380G= (p.Arg127=) | |
1 | g.55039860G>T | CA340482625 | PCSK9 | c.23G>T (p.Arg8Leu) c.380G>T (p.Arg127Leu) | dbSNP gnomAD v4 |
1 | g.55039861G>A | CA417957243 | PCSK9 | c.24G>A (p.Arg8=) c.381G>A (p.Arg127=) | gnomAD v4 |
1 | g.55039861G>C | CA417957244 | PCSK9 | c.24G>C (p.Arg8=) c.381G>C (p.Arg127=) | |
1 | g.55039861G>T | CA417957246 | PCSK9 | c.24G>T (p.Arg8=) c.381G>T (p.Arg127=) | |
1 | g.55039862T>A | CA340482626 | PCSK9 | c.25T>A (p.Ser9Thr) c.382T>A (p.Ser128Thr) | |
1 | g.55039862T>C | CA340482627 | PCSK9 | c.25T>C (p.Ser9Pro) c.382T>C (p.Ser128Pro) | |
1 | g.55039862T>G | CA340482628 | PCSK9 | c.25T>G (p.Ser9Ala) c.382T>G (p.Ser128Ala) | |
1 | g.55039863C>A | CA340482629 | PCSK9 | c.26C>A (p.Ser9Tyr) c.383C>A (p.Ser128Tyr) | gnomAD v4 |
1 | g.55039863C= | CA1167976390 | PCSK9 | c.26C= (p.Ser9=) c.383C= (p.Ser128=) | |
1 | g.55039863C>G | CA340482630 | PCSK9 | c.26C>G (p.Ser9Cys) c.383C>G (p.Ser128Cys) | |
1 | g.55039863C>T | CA340482631 | PCSK9 | c.26C>T (p.Ser9Phe) c.383C>T (p.Ser128Phe) | dbSNP gnomAD v2 |
1 | g.55039864C>A | CA417957247 | PCSK9 | c.27C>A (p.Ser9=) c.384C>A (p.Ser128=) | gnomAD v4 |
1 | g.55039864C= | CA1146918415 | PCSK9 | c.27C= (p.Ser9=) c.384C= (p.Ser128=) | |
1 | g.55039864C>G | CA417957248 | PCSK9 | c.27C>G (p.Ser9=) c.384C>G (p.Ser128=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.55039864C>T | CA041172 | PCSK9 | c.27C>T (p.Ser9=) c.384C>T (p.Ser128=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.55039865T>A | CA340482634 | PCSK9 | c.28T>A (p.Trp10Arg) c.385T>A (p.Trp129Arg) | gnomAD v4 COSMIC COSMIC |
1 | g.55039865T>C | CA340482632 | PCSK9 | c.28T>C (p.Trp10Arg) c.385T>C (p.Trp129Arg) | |
1 | g.55039865T>G | CA340482633 | PCSK9 | c.28T>G (p.Trp10Gly) c.385T>G (p.Trp129Gly) | |
1 | g.55039866G>A | CA340482635 | PCSK9 | c.29G>A (p.Trp10Ter) c.386G>A (p.Trp129Ter) | gnomAD v4 |
1 | g.55039866G>C | CA340482636 | PCSK9 | c.29G>C (p.Trp10Ser) c.386G>C (p.Trp129Ser) | gnomAD v4 |
1 | g.55039866G>T | CA340482637 | PCSK9 | c.29G>T (p.Trp10Leu) c.386G>T (p.Trp129Leu) | |
1 | g.55039867G>A | CA340482638 | PCSK9 | c.30G>A (p.Trp10Ter) c.387G>A (p.Trp129Ter) | COSMIC COSMIC |
1 | g.55039867G>C | CA340482639 | PCSK9 | c.30G>C (p.Trp10Cys) c.387G>C (p.Trp129Cys) | |
1 | g.55039867G>T | CA340482640 | PCSK9 | c.30G>T (p.Trp10Cys) c.387G>T (p.Trp129Cys) | |
1 | g.55039868T>A | CA340482641 | PCSK9 | c.31T>A (p.Trp11Arg) c.388T>A (p.Trp130Arg) | |
1 | g.55039868T>C | CA340482642 | PCSK9 | c.31T>C (p.Trp11Arg) c.388T>C (p.Trp130Arg) | |
1 | g.55039868T>G | CA340482643 | PCSK9 | c.31T>G (p.Trp11Gly) c.388T>G (p.Trp130Gly) | |
1 | g.55039869G>A | CA340482644 | PCSK9 | c.32G>A (p.Trp11Ter) c.389G>A (p.Trp130Ter) | dbSNP gnomAD v2 |
1 | g.55039869G>C | CA340482645 | PCSK9 | c.32G>C (p.Trp11Ser) c.389G>C (p.Trp130Ser) | |
1 | g.55039869G= | CA1167976391 | PCSK9 | c.32G= (p.Trp11=) c.389G= (p.Trp130=) | |
1 | g.55039869G>T | CA340482646 | PCSK9 | c.32G>T (p.Trp11Leu) c.389G>T (p.Trp130Leu) | gnomAD v4 |
1 | g.55039870G>A | CA340482649 | PCSK9 | c.33G>A (p.Trp11Ter) c.390G>A (p.Trp130Ter) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.55039870G>C | CA340482648 | PCSK9 | c.33G>C (p.Trp11Cys) c.390G>C (p.Trp130Cys) | |
1 | g.55039870G= | CA1167976392 | PCSK9 | c.33G= (p.Trp11=) c.390G= (p.Trp130=) | |
1 | g.55039870G>T | CA340482647 | PCSK9 | c.33G>T (p.Trp11Cys) c.390G>T (p.Trp130Cys) | |
1 | g.55039871C>A | CA22791800 | PCSK9 | c.34C>A (p.Pro12Thr) c.391C>A (p.Pro131Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.55039871C= | CA1167976393 | PCSK9 | c.34C= (p.Pro12=) c.391C= (p.Pro131=) | |
1 | g.55039871C>G | CA340482650 | PCSK9 | c.34C>G (p.Pro12Ala) c.391C>G (p.Pro131Ala) | |
1 | g.55039871C>T | CA340482651 | PCSK9 | c.34C>T (p.Pro12Ser) c.391C>T (p.Pro131Ser) | gnomAD v4 |
1 | g.55039872C>A | CA340482652 | PCSK9 | c.35C>A (p.Pro12Gln) c.392C>A (p.Pro131Gln) | gnomAD v4 |
1 | g.55039872C= | CA1167976394 | PCSK9 | c.35C= (p.Pro12=) c.392C= (p.Pro131=) | |
1 | g.55039872C>G | CA340482653 | PCSK9 | c.35C>G (p.Pro12Arg) c.392C>G (p.Pro131Arg) | |
1 | g.55039872C>T | CA041578 | PCSK9 | c.35C>T (p.Pro12Leu) c.392C>T (p.Pro131Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.55039873G>A | CA417957253 | PCSK9 | c.36G>A (p.Pro12=) c.393G>A (p.Pro131=) | ClinVar dbSNP gnomAD v4 |
1 | g.55039873G>C | CA417957254 | PCSK9 | c.36G>C (p.Pro12=) c.393G>C (p.Pro131=) | |
1 | g.55039873G= | CA1167976395 | PCSK9 | c.36G= (p.Pro12=) c.393G= (p.Pro131=) | |
1 | g.55039873G>T | CA417957255 | PCSK9 | c.36G>T (p.Pro12=) c.393G>T (p.Pro131=) | gnomAD v4 |
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) | |
1 | g.55039881T>G | CA340482667 | PCSK9 | c.44T>G (p.Leu15Arg) c.401T>G (p.Leu134Arg) | |
1 | g.55039882_55039883insGTG | CA737023214 | PCSK9 | c.45_46insGTG (p.Leu15_Leu16insVal) c.402_403insGTG (p.Leu134_Leu135insVal) | ClinVar dbSNP |
1 | g.55039882_55039883insTTG | CA2740140191 | PCSK9 | c.45_46insTTG (p.Leu15_Leu16insLeu) c.402_403insTTG (p.Leu134_Leu135insLeu) |