Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.116791007C>A | CA477048027 | APOA5 | c.222G>T (p.Leu74=) c.306G>T (p.Leu102=) | |
11 | g.116791007C>G | CA477048028 | APOA5 | c.222G>C (p.Leu74=) c.306G>C (p.Leu102=) | |
11 | g.116791007C>T | CA477048029 | APOA5 | c.222G>A (p.Leu74=) c.306G>A (p.Leu102=) | |
11 | g.116791008A>C | CA382739972 | APOA5 | c.221T>G (p.Leu74Arg) c.305T>G (p.Leu102Arg) | |
11 | g.116791008A>G | CA382739978 | APOA5 | c.221T>C (p.Leu74Pro) c.305T>C (p.Leu102Pro) | |
11 | g.116791008A>T | CA382739976 | APOA5 | c.221T>A (p.Leu74Gln) c.305T>A (p.Leu102Gln) | |
11 | g.116791009G>A | CA477048031 | APOA5 | c.220C>T (p.Leu74=) c.304C>T (p.Leu102=) | |
11 | g.116791009G>C | CA382739981 | APOA5 | c.220C>G (p.Leu74Val) c.304C>G (p.Leu102Val) | |
11 | g.116791009G= | CA2002741229 | APOA5 | c.220C= (p.Leu74=) c.304C= (p.Leu102=) | |
11 | g.116791009G>T | CA382739986 | APOA5 | c.220C>A (p.Leu74Met) c.304C>A (p.Leu102Met) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.116791010C>A | CA382739990 | APOA5 | c.219G>T (p.Lys73Asn) c.303G>T (p.Lys101Asn) | |
11 | g.116791010C= | CA2002741232 | APOA5 | c.219G= (p.Lys73=) c.303G= (p.Lys101=) | |
11 | g.116791010C>G | CA382739994 | APOA5 | c.219G>C (p.Lys73Asn) c.303G>C (p.Lys101Asn) | dbSNP |
11 | g.116791010C>T | CA477048032 | APOA5 | c.219G>A (p.Lys73=) c.303G>A (p.Lys101=) | |
11 | g.116791011T>A | CA382739999 | APOA5 | c.218A>T (p.Lys73Met) c.302A>T (p.Lys101Met) | |
11 | g.116791011T>C | CA382740001 | APOA5 | c.218A>G (p.Lys73Arg) c.302A>G (p.Lys101Arg) | |
11 | g.116791011T>G | CA382740004 | APOA5 | c.218A>C (p.Lys73Thr) c.302A>C (p.Lys101Thr) | |
11 | g.116791012T>A | CA382740009 | APOA5 | c.217A>T (p.Lys73Ter) c.301A>T (p.Lys101Ter) | |
11 | g.116791012T>C | CA382740012 | APOA5 | c.217A>G (p.Lys73Glu) c.301A>G (p.Lys101Glu) | |
11 | g.116791012T>G | CA382740018 | APOA5 | c.217A>C (p.Lys73Gln) c.301A>C (p.Lys101Gln) | |
11 | g.116791013T>A | CA382740022 | APOA5 | c.216A>T (p.Glu72Asp) c.300A>T (p.Glu100Asp) | |
11 | g.116791013T>C | CA477048037 | APOA5 | c.216A>G (p.Glu72=) c.300A>G (p.Glu100=) | gnomAD v4 |
11 | g.116791013T>G | CA382740024 | APOA5 | c.216A>C (p.Glu72Asp) c.300A>C (p.Glu100Asp) | |
11 | g.116791014T>A | CA382740028 | APOA5 | c.215A>T (p.Glu72Val) c.299A>T (p.Glu100Val) | |
11 | g.116791014T>C | CA382740029 | APOA5 | c.215A>G (p.Glu72Gly) c.299A>G (p.Glu100Gly) | |
11 | g.116791014T>G | CA382740030 | APOA5 | c.215A>C (p.Glu72Ala) c.299A>C (p.Glu100Ala) | |
11 | g.116791015C>A | CA382740034 | APOA5 | c.214G>T (p.Glu72Ter) c.298G>T (p.Glu100Ter) | |
11 | g.116791015C>G | CA382740036 | APOA5 | c.214G>C (p.Glu72Gln) c.298G>C (p.Glu100Gln) | |
11 | g.116791015C>T | CA382740037 | APOA5 | c.214G>A (p.Glu72Lys) c.298G>A (p.Glu100Lys) | |
11 | g.116791016C>A | CA477048044 | APOA5 | c.213G>T (p.Leu71=) c.297G>T (p.Leu99=) | |
11 | g.116791016C>G | CA477048045 | APOA5 | c.213G>C (p.Leu71=) c.297G>C (p.Leu99=) | |
11 | g.116791016C>T | CA477048046 | APOA5 | c.213G>A (p.Leu71=) c.297G>A (p.Leu99=) | |
11 | g.116791017A>C | CA382740038 | APOA5 | c.212T>G (p.Leu71Arg) c.296T>G (p.Leu99Arg) | |
11 | g.116791017A>G | CA382740039 | APOA5 | c.212T>C (p.Leu71Pro) c.296T>C (p.Leu99Pro) | ClinVar dbSNP |
11 | g.116791017A>T | CA382740040 | APOA5 | c.212T>A (p.Leu71Gln) c.296T>A (p.Leu99Gln) | |
11 | g.116791018G>A | CA476881803 | APOA5 | c.211C>T (p.Leu71=) c.295C>T (p.Leu99=) | |
11 | g.116791018G>C | CA382740043 | APOA5 | c.211C>G (p.Leu71Val) c.295C>G (p.Leu99Val) | |
11 | g.116791018G>T | CA382740047 | APOA5 | c.211C>A (p.Leu71Met) c.295C>A (p.Leu99Met) | |
11 | g.116791019del | CA2695215436 | APOA5 | c.211del (p.Leu71TrpfsTer4) c.295del (p.Leu99TrpfsTer4) | |
11 | g.116791019G>A | CA229338188 | APOA5 | c.210C>T (p.Phe70=) c.294C>T (p.Phe98=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.116791019G>C | CA382740051 | APOA5 | c.210C>G (p.Phe70Leu) c.294C>G (p.Phe98Leu) | |
11 | g.116791019G= | CA2002741235 | APOA5 | c.210C= (p.Phe70=) c.294C= (p.Phe98=) | |
11 | g.116791019G>T | CA382740052 | APOA5 | c.210C>A (p.Phe70Leu) c.294C>A (p.Phe98Leu) | dbSNP gnomAD v4 |
11 | g.116791020A>C | CA382740055 | APOA5 | c.209T>G (p.Phe70Cys) c.293T>G (p.Phe98Cys) | |
11 | g.116791020A>G | CA382740069 | APOA5 | c.209T>C (p.Phe70Ser) c.293T>C (p.Phe98Ser) | |
11 | g.116791020A>T | CA382740057 | APOA5 | c.209T>A (p.Phe70Tyr) c.293T>A (p.Phe98Tyr) | |
11 | g.116791021A= | CA2002741238 | APOA5 | c.208T= (p.Phe70=) c.292T= (p.Phe98=) | |
11 | g.116791021A>C | CA382740072 | APOA5 | c.208T>G (p.Phe70Val) c.292T>G (p.Phe98Val) | |
11 | g.116791021A>G | CA382740078 | APOA5 | c.208T>C (p.Phe70Leu) c.292T>C (p.Phe98Leu) | dbSNP gnomAD v4 |
11 | g.116791021A>T | CA382740082 | APOA5 | c.208T>A (p.Phe70Ile) c.292T>A (p.Phe98Ile) | |
11 | g.116791022C>A | CA382740086 | APOA5 | c.207G>T (p.Lys69Asn) c.291G>T (p.Lys97Asn) | |
11 | g.116791022C>G | CA382740089 | APOA5 | c.207G>C (p.Lys69Asn) c.291G>C (p.Lys97Asn) | |
11 | g.116791022C>T | CA476881804 | APOA5 | c.207G>A (p.Lys69=) c.291G>A (p.Lys97=) | |
11 | g.116791023T>A | CA382740098 | APOA5 | c.206A>T (p.Lys69Met) c.290A>T (p.Lys97Met) | |
11 | g.116791023T>C | CA382740102 | APOA5 | c.206A>G (p.Lys69Arg) c.290A>G (p.Lys97Arg) | |
11 | g.116791023T>G | CA382740111 | APOA5 | c.206A>C (p.Lys69Thr) c.290A>C (p.Lys97Thr) | |
11 | g.116791024T>A | CA382740117 | APOA5 | c.205A>T (p.Lys69Ter) c.289A>T (p.Lys97Ter) | |
11 | g.116791024T>C | CA382740121 | APOA5 | c.205A>G (p.Lys69Glu) c.289A>G (p.Lys97Glu) | |
11 | g.116791024T>G | CA382740126 | APOA5 | c.205A>C (p.Lys69Gln) c.289A>C (p.Lys97Gln) | |
11 | g.116791025G>A | CA476881805 | APOA5 | c.204C>T (p.Asn68=) c.288C>T (p.Asn96=) | |
11 | g.116791025G>C | CA382740129 | APOA5 | c.204C>G (p.Asn68Lys) c.288C>G (p.Asn96Lys) | |
11 | g.116791025G>T | CA382740130 | APOA5 | c.204C>A (p.Asn68Lys) c.288C>A (p.Asn96Lys) | |
11 | g.116791026T>A | CA382740131 | APOA5 | c.203A>T (p.Asn68Ile) c.287A>T (p.Asn96Ile) | |
11 | g.116791026T>C | CA382740135 | APOA5 | c.203A>G (p.Asn68Ser) c.287A>G (p.Asn96Ser) | |
11 | g.116791026T>G | CA382740132 | APOA5 | c.203A>C (p.Asn68Thr) c.287A>C (p.Asn96Thr) | |
11 | g.116791027T>A | CA382740147 | APOA5 | c.202A>T (p.Asn68Tyr) c.286A>T (p.Asn96Tyr) | |
11 | g.116791027T>C | CA382740161 | APOA5 | c.202A>G (p.Asn68Asp) c.286A>G (p.Asn96Asp) | |
11 | g.116791027T>G | CA382740173 | APOA5 | c.202A>C (p.Asn68His) c.286A>C (p.Asn96His) | |
11 | g.116791028C>A | CA382740180 | APOA5 | c.201G>T (p.Met67Ile) c.285G>T (p.Met95Ile) | gnomAD v4 |
11 | g.116791028C= | CA2002741240 | APOA5 | c.201G= (p.Met67=) c.285G= (p.Met95=) | |
11 | g.116791028C>G | CA382740181 | APOA5 | c.201G>C (p.Met67Ile) c.285G>C (p.Met95Ile) | dbSNP |
11 | g.116791028C>T | CA382740183 | APOA5 | c.201G>A (p.Met67Ile) c.285G>A (p.Met95Ile) | COSMIC |
11 | g.116791029A>C | CA382740185 | APOA5 | c.200T>G (p.Met67Arg) c.284T>G (p.Met95Arg) | |
11 | g.116791029A>G | CA382740188 | APOA5 | c.200T>C (p.Met67Thr) c.284T>C (p.Met95Thr) | |
11 | g.116791029A>T | CA382740194 | APOA5 | c.200T>A (p.Met67Lys) c.284T>A (p.Met95Lys) | |
11 | g.116791030T>A | CA382740199 | APOA5 | c.199A>T (p.Met67Leu) c.283A>T (p.Met95Leu) | |
11 | g.116791030T>C | CA6289113 | APOA5 | c.199A>G (p.Met67Val) c.283A>G (p.Met95Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.116791030T>G | CA382740211 | APOA5 | c.199A>C (p.Met67Leu) c.283A>C (p.Met95Leu) | |
11 | g.116791030T= | CA2002741247 | APOA5 | c.199A= (p.Met67=) c.283A= (p.Met95=) | |
11 | g.116791031A>C | CA382740214 | APOA5 | c.198T>G (p.Asn66Lys) c.282T>G (p.Asn94Lys) | |
11 | g.116791031A>G | CA476881806 | APOA5 | c.198T>C (p.Asn66=) c.282T>C (p.Asn94=) | dbSNP gnomAD v4 |
11 | g.116791031A>T | CA382740216 | APOA5 | c.198T>A (p.Asn66Lys) c.282T>A (p.Asn94Lys) | |
11 | g.116791032T>A | CA382740219 | APOA5 | c.197A>T (p.Asn66Ile) c.281A>T (p.Asn94Ile) | |
11 | g.116791032T>C | CA382740220 | APOA5 | c.197A>G (p.Asn66Ser) c.281A>G (p.Asn94Ser) | gnomAD v4 |
11 | g.116791032T>G | CA382740221 | APOA5 | c.197A>C (p.Asn66Thr) c.281A>C (p.Asn94Thr) | |
11 | g.116791033T>A | CA382740222 | APOA5 | c.196A>T (p.Asn66Tyr) c.280A>T (p.Asn94Tyr) | |
11 | g.116791033T>C | CA382740223 | APOA5 | c.196A>G (p.Asn66Asp) c.280A>G (p.Asn94Asp) | ClinVar gnomAD v4 |
11 | g.116791033T>G | CA382740226 | APOA5 | c.196A>C (p.Asn66His) c.280A>C (p.Asn94His) | gnomAD v4 |
11 | g.116791034G>A | CA6289114 | APOA5 | c.195C>T (p.Asn65=) c.279C>T (p.Asn93=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.116791034G>C | CA382740238 | APOA5 | c.195C>G (p.Asn65Lys) c.279C>G (p.Asn93Lys) | |
11 | g.116791034G= | CA2002741249 | APOA5 | c.195C= (p.Asn65=) c.279C= (p.Asn93=) | |
11 | g.116791034G>T | CA382740240 | APOA5 | c.195C>A (p.Asn65Lys) c.279C>A (p.Asn93Lys) | gnomAD v4 |
11 | g.116791035T>A | CA382740243 | APOA5 | c.194A>T (p.Asn65Ile) c.278A>T (p.Asn93Ile) | |
11 | g.116791035T>C | CA382740247 | APOA5 | c.194A>G (p.Asn65Ser) c.278A>G (p.Asn93Ser) | |
11 | g.116791035T>G | CA382740248 | APOA5 | c.194A>C (p.Asn65Thr) c.278A>C (p.Asn93Thr) | |
11 | g.116791036T>A | CA382740251 | APOA5 | c.193A>T (p.Asn65Tyr) c.277A>T (p.Asn93Tyr) | |
11 | g.116791036T>C | CA382740253 | APOA5 | c.193A>G (p.Asn65Asp) c.277A>G (p.Asn93Asp) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.116791036T>G | CA382740252 | APOA5 | c.193A>C (p.Asn65His) c.277A>C (p.Asn93His) | |
11 | g.116791036T= | CA2002741252 | APOA5 | c.193A= (p.Asn65=) c.277A= (p.Asn93=) | |
11 | g.116791037G>A | CA476881808 | APOA5 | c.192C>T (p.Leu64=) c.276C>T (p.Leu92=) | |
11 | g.116791037G>C | CA476881809 | APOA5 | c.192C>G (p.Leu64=) c.276C>G (p.Leu92=) | |
11 | g.116791037G>T | CA476881810 | APOA5 | c.192C>A (p.Leu64=) c.276C>A (p.Leu92=) | |
11 | g.116791038A>C | CA382740254 | APOA5 | c.191T>G (p.Leu64Arg) c.275T>G (p.Leu92Arg) | |
11 | g.116791038A>G | CA382740255 | APOA5 | c.191T>C (p.Leu64Pro) c.275T>C (p.Leu92Pro) | |
11 | g.116791038A>T | CA382740258 | APOA5 | c.191T>A (p.Leu64His) c.275T>A (p.Leu92His) | |
11 | g.116791039G>A | CA382740260 | APOA5 | c.190C>T (p.Leu64Phe) c.274C>T (p.Leu92Phe) | gnomAD v4 |
11 | g.116791039G>C | CA382740268 | APOA5 | c.190C>G (p.Leu64Val) c.274C>G (p.Leu92Val) | |
11 | g.116791039G>T | CA382740275 | APOA5 | c.190C>A (p.Leu64Ile) c.274C>A (p.Leu92Ile) | gnomAD v4 |
11 | g.116791040G>A | CA476881811 | APOA5 | c.189C>T (p.Asp63=) c.273C>T (p.Asp91=) | |
11 | g.116791040G>C | CA382740276 | APOA5 | c.189C>G (p.Asp63Glu) c.273C>G (p.Asp91Glu) | |
11 | g.116791040G>T | CA382740277 | APOA5 | c.189C>A (p.Asp63Glu) c.273C>A (p.Asp91Glu) | gnomAD v4 |
11 | g.116791041T>A | CA382740279 | APOA5 | c.188A>T (p.Asp63Val) c.272A>T (p.Asp91Val) | |
11 | g.116791041T>C | CA382740280 | APOA5 | c.188A>G (p.Asp63Gly) c.272A>G (p.Asp91Gly) | |
11 | g.116791041T>G | CA382740281 | APOA5 | c.188A>C (p.Asp63Ala) c.272A>C (p.Asp91Ala) | |
11 | g.116791042C>A | CA382740292 | APOA5 | c.187G>T (p.Asp63Tyr) c.271G>T (p.Asp91Tyr) | |
11 | g.116791042C>G | CA382740288 | APOA5 | c.187G>C (p.Asp63His) c.271G>C (p.Asp91His) | |
11 | g.116791042C>T | CA382740282 | APOA5 | c.187G>A (p.Asp63Asn) c.271G>A (p.Asp91Asn) | gnomAD v4 |
11 | g.116791042_116791043delinsCT | CA2002741254 | APOA5 | c.186_187delinsAG (p.Gln62=) c.270_271delinsAG (p.Gln90=) | |
11 | g.116791043T>A | CA382740295 | APOA5 | c.186A>T (p.Gln62His) c.270A>T (p.Gln90His) | |
11 | g.116791043T>C | CA476881812 | APOA5 | c.186A>G (p.Gln62=) c.270A>G (p.Gln90=) | |
11 | g.116791043T>G | CA382740298 | APOA5 | c.186A>C (p.Gln62His) c.270A>C (p.Gln90His) | |
11 | g.116791044del | CA601831203 | APOA5 | c.186del (p.Asp63ThrfsTer5) c.270del (p.Asp91ThrfsTer5) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.116791044T>A | CA382740301 | APOA5 | c.185A>T (p.Gln62Leu) c.269A>T (p.Gln90Leu) | |
11 | g.116791044T>C | CA382740303 | APOA5 | c.185A>G (p.Gln62Arg) c.269A>G (p.Gln90Arg) | |
11 | g.116791044T>G | CA382740306 | APOA5 | c.185A>C (p.Gln62Pro) c.269A>C (p.Gln90Pro) | |
11 | g.116791045G>A | CA382740314 | APOA5 | c.184C>T (p.Gln62Ter) c.268C>T (p.Gln90Ter) | gnomAD v4 |
11 | g.116791045G>C | CA382740319 | APOA5 | c.184C>G (p.Gln62Glu) c.268C>G (p.Gln90Glu) | |
11 | g.116791045G>T | CA382740320 | APOA5 | c.184C>A (p.Gln62Lys) c.268C>A (p.Gln90Lys) | gnomAD v4 COSMIC |
11 | g.116791046C>A | CA229338197 | APOA5 | c.183G>T (p.Glu61Asp) c.267G>T (p.Glu89Asp) | dbSNP gnomAD v2 |
11 | g.116791046C= | CA2002741259 | APOA5 | c.183G= (p.Glu61=) c.267G= (p.Glu89=) | |
11 | g.116791046C>G | CA382740325 | APOA5 | c.183G>C (p.Glu61Asp) c.267G>C (p.Glu89Asp) | |
11 | g.116791046C>T | CA476881813 | APOA5 | c.183G>A (p.Glu61=) c.267G>A (p.Glu89=) | |
11 | g.116791047T>A | CA382740331 | APOA5 | c.182A>T (p.Glu61Val) c.266A>T (p.Glu89Val) | |
11 | g.116791047T>C | CA382740347 | APOA5 | c.182A>G (p.Glu61Gly) c.266A>G (p.Glu89Gly) | dbSNP gnomAD v4 |
11 | g.116791047T>G | CA382740348 | APOA5 | c.182A>C (p.Glu61Ala) c.266A>C (p.Glu89Ala) | |
11 | g.116791047T= | CA2002741261 | APOA5 | c.182A= (p.Glu61=) c.266A= (p.Glu89=) | |
11 | g.116791048C>A | CA382740351 | APOA5 | c.181G>T (p.Glu61Ter) c.265G>T (p.Glu89Ter) | gnomAD v4 |
11 | g.116791048C>G | CA382740363 | APOA5 | c.181G>C (p.Glu61Gln) c.265G>C (p.Glu89Gln) | COSMIC |
11 | g.116791048C>T | CA382740349 | APOA5 | c.181G>A (p.Glu61Lys) c.265G>A (p.Glu89Lys) | |
11 | g.116791049A>C | CA476881814 | APOA5 | c.180T>G (p.Leu60=) c.264T>G (p.Leu88=) | |
11 | g.116791049A>G | CA476881815 | APOA5 | c.180T>C (p.Leu60=) c.264T>C (p.Leu88=) | |
11 | g.116791049A>T | CA476881816 | APOA5 | c.180T>A (p.Leu60=) c.264T>A (p.Leu88=) | |
11 | g.116791050A= | CA2002741265 | APOA5 | c.179T= (p.Leu60=) c.263T= (p.Leu88=) | |
11 | g.116791050A>C | CA382740371 | APOA5 | c.179T>G (p.Leu60Arg) c.263T>G (p.Leu88Arg) | |
11 | g.116791050A>G | CA382740368 | APOA5 | c.179T>C (p.Leu60Pro) c.263T>C (p.Leu88Pro) | |
11 | g.116791050A>T | CA6289115 | APOA5 | c.179T>A (p.Leu60His) c.263T>A (p.Leu88His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.116791051G>A | CA382740382 | APOA5 | c.178C>T (p.Leu60Phe) c.262C>T (p.Leu88Phe) | gnomAD v4 |
11 | g.116791051G>C | CA382740383 | APOA5 | c.178C>G (p.Leu60Val) c.262C>G (p.Leu88Val) | |
11 | g.116791051G>T | CA382740385 | APOA5 | c.178C>A (p.Leu60Ile) c.262C>A (p.Leu88Ile) | gnomAD v4 |
11 | g.116791052G>A | CA476881817 | APOA5 | c.177C>T (p.Ser59=) c.261C>T (p.Ser87=) | gnomAD v4 COSMIC |
11 | g.116791052G>C | CA382740387 | APOA5 | c.177C>G (p.Ser59Arg) c.261C>G (p.Ser87Arg) | gnomAD v4 |
11 | g.116791052G= | CA2002741272 | APOA5 | c.177C= (p.Ser59=) c.261C= (p.Ser87=) | |
11 | g.116791052G>T | CA382740388 | APOA5 | c.177C>A (p.Ser59Arg) c.261C>A (p.Ser87Arg) | gnomAD v4 |
11 | g.116791053C>A | CA382740390 | APOA5 | c.176G>T (p.Ser59Ile) c.260G>T (p.Ser87Ile) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
11 | g.116791053C= | CA2002741278 | APOA5 | c.176G= (p.Ser59=) c.260G= (p.Ser87=) | |
11 | g.116791053C>G | CA382740391 | APOA5 | c.176G>C (p.Ser59Thr) c.260G>C (p.Ser87Thr) | |
11 | g.116791053C>T | CA382740396 | APOA5 | c.176G>A (p.Ser59Asn) c.260G>A (p.Ser87Asn) | |
11 | g.116791055_116791058dup | CA601831204 | APOA5 | c.173_176dup (p.Ser59ArgfsTer4) c.257_260dup (p.Ser87ArgfsTer4) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.116791054T>A | CA382740399 | APOA5 | c.175A>T (p.Ser59Cys) c.259A>T (p.Ser87Cys) | |
11 | g.116791054T>C | CA382740413 | APOA5 | c.175A>G (p.Ser59Gly) c.259A>G (p.Ser87Gly) | |
11 | g.116791054T>G | CA382740414 | APOA5 | c.175A>C (p.Ser59Arg) c.259A>C (p.Ser87Arg) | |
11 | g.116791055G>A | CA476881818 | APOA5 | c.174C>T (p.Asp58=) c.258C>T (p.Asp86=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.116791055G>C | CA382740418 | APOA5 | c.174C>G (p.Asp58Glu) c.258C>G (p.Asp86Glu) | |
11 | g.116791055G= | CA2002741280 | APOA5 | c.174C= (p.Asp58=) c.258C= (p.Asp86=) | |
11 | g.116791055G>T | CA382740423 | APOA5 | c.174C>A (p.Asp58Glu) c.258C>A (p.Asp86Glu) | gnomAD v4 |
11 | g.116791056T>A | CA382740432 | APOA5 | c.173A>T (p.Asp58Val) c.257A>T (p.Asp86Val) | |
11 | g.116791056T>C | CA382740437 | APOA5 | c.173A>G (p.Asp58Gly) c.257A>G (p.Asp86Gly) | |
11 | g.116791056T>G | CA382740435 | APOA5 | c.173A>C (p.Asp58Ala) c.257A>C (p.Asp86Ala) | |
11 | g.116791057C>A | CA382740442 | APOA5 | c.172G>T (p.Asp58Tyr) c.256G>T (p.Asp86Tyr) | |
11 | g.116791057C>G | CA382740445 | APOA5 | c.172G>C (p.Asp58His) c.256G>C (p.Asp86His) | |
11 | g.116791057C>T | CA382740449 | APOA5 | c.172G>A (p.Asp58Asn) c.256G>A (p.Asp86Asn) | |
11 | g.116791058T>A | CA382740455 | APOA5 | c.171A>T (p.Lys57Asn) c.255A>T (p.Lys85Asn) | |
11 | g.116791058T>C | CA476881819 | APOA5 | c.171A>G (p.Lys57=) c.255A>G (p.Lys85=) | |
11 | g.116791058T>G | CA382740459 | APOA5 | c.171A>C (p.Lys57Asn) c.255A>C (p.Lys85Asn) | |
11 | g.116791059T>A | CA382740465 | APOA5 | c.170A>T (p.Lys57Ile) c.254A>T (p.Lys85Ile) | |
11 | g.116791059T>C | CA382740470 | APOA5 | c.170A>G (p.Lys57Arg) c.254A>G (p.Lys85Arg) | |
11 | g.116791059T>G | CA382740482 | APOA5 | c.170A>C (p.Lys57Thr) c.254A>C (p.Lys85Thr) | |
11 | g.116791060T>A | CA382740488 | APOA5 | c.169A>T (p.Lys57Ter) c.253A>T (p.Lys85Ter) | |
11 | g.116791060T>C | CA382740500 | APOA5 | c.169A>G (p.Lys57Glu) c.253A>G (p.Lys85Glu) | |
11 | g.116791060T>G | CA382740504 | APOA5 | c.169A>C (p.Lys57Gln) c.253A>C (p.Lys85Gln) | |
11 | g.116791061C>A | CA476881820 | APOA5 | c.168G>T (p.Leu56=) c.252G>T (p.Leu84=) | |
11 | g.116791061C= | CA2002741283 | APOA5 | c.168G= (p.Leu56=) c.252G= (p.Leu84=) | |
11 | g.116791061C>G | CA6289117 | APOA5 | c.168G>C (p.Leu56=) c.252G>C (p.Leu84=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.116791061C>T | CA6289116 | APOA5 | c.168G>A (p.Leu56=) c.252G>A (p.Leu84=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.116791062A= | CA2002741288 | APOA5 | c.167T= (p.Leu56=) c.251T= (p.Leu84=) | |
11 | g.116791062A>C | CA382740511 | APOA5 | c.167T>G (p.Leu56Arg) c.251T>G (p.Leu84Arg) | |
11 | g.116791062A>G | CA382740515 | APOA5 | c.167T>C (p.Leu56Pro) c.251T>C (p.Leu84Pro) | dbSNP gnomAD v4 |
11 | g.116791062A>T | CA382740520 | APOA5 | c.167T>A (p.Leu56Gln) c.251T>A (p.Leu84Gln) | |
11 | g.116791063G>A | CA476881821 | APOA5 | c.166C>T (p.Leu56=) c.250C>T (p.Leu84=) | dbSNP gnomAD v2 |
11 | g.116791063G>C | CA382740524 | APOA5 | c.166C>G (p.Leu56Val) c.250C>G (p.Leu84Val) | |
11 | g.116791063G= | CA2002741293 | APOA5 | c.166C= (p.Leu56=) c.250C= (p.Leu84=) | |
11 | g.116791063G>T | CA382740526 | APOA5 | c.166C>A (p.Leu56Met) c.250C>A (p.Leu84Met) | gnomAD v4 |
11 | g.116791064G>A | CA229338221 | APOA5 | c.165C>T (p.Thr55=) c.249C>T (p.Thr83=) | dbSNP gnomAD v4 |
11 | g.116791064G>C | CA6289118 | APOA5 | c.165C>G (p.Thr55=) c.249C>G (p.Thr83=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.116791064G= | CA2002741297 | APOA5 | c.165C= (p.Thr55=) c.249C= (p.Thr83=) | |
11 | g.116791064G>T | CA476881822 | APOA5 | c.165C>A (p.Thr55=) c.249C>A (p.Thr83=) | |
11 | g.116791065G>A | CA382740541 | APOA5 | c.164C>T (p.Thr55Ile) c.248C>T (p.Thr83Ile) | |
11 | g.116791065G>C | CA382740539 | APOA5 | c.164C>G (p.Thr55Ser) c.248C>G (p.Thr83Ser) | |
11 | g.116791065G>T | CA382740536 | APOA5 | c.164C>A (p.Thr55Asn) c.248C>A (p.Thr83Asn) | |
11 | g.116791066T>A | CA382740545 | APOA5 | c.163A>T (p.Thr55Ser) c.247A>T (p.Thr83Ser) | |
11 | g.116791066T>C | CA382740548 | APOA5 | c.163A>G (p.Thr55Ala) c.247A>G (p.Thr83Ala) | |
11 | g.116791066T>G | CA382740551 | APOA5 | c.163A>C (p.Thr55Pro) c.247A>C (p.Thr83Pro) | |
11 | g.116791067C>A | CA476881823 | APOA5 | c.162G>T (p.Ala54=) c.246G>T (p.Arg82Ser) | |
11 | g.116791067C>G | CA476881824 | APOA5 | c.162G>C (p.Ala54=) c.246G>C (p.Arg82Ser) | |
11 | g.116791067C>T | CA476881825 | APOA5 | c.162G>A (p.Ala54=) c.246G>A (p.Arg82=) | |
11 | g.116791068C>A | CA382740554 | APOA5 | c.162-1G>T (n.162-1G>T) c.245G>T (p.Arg82Met) | |
11 | g.116791068C>G | CA382740556 | APOA5 | c.162-1G>C (n.162-1G>C) c.245G>C (p.Arg82Thr) | |
11 | g.116791068C>T | CA382740561 | APOA5 | c.162-1G>A (n.162-1G>A) c.245G>A (p.Arg82Lys) | |
11 | g.116791069T>A | CA382740562 | APOA5 | c.162-2A>T (n.162-2A>T) c.244A>T (p.Arg82Trp) | |
11 | g.116791069T>C | CA382740565 | APOA5 | c.162-2A>G (n.162-2A>G) c.244A>G (p.Arg82Gly) | |
11 | g.116791069T>G | CA382740563 | APOA5 | c.162-2A>C (n.162-2A>C) c.244A>C (p.Arg82=) | dbSNP |
11 | g.116791069_116791080delinsAGGCCGT | CA1139655080 | APOA5 | c.162-13_162-2delinsACGGCCT (n.162-13_162-2delinsACGGCCT) c.233_244delinsACGGCCT (p.Val78AspfsTer10) | |
11 | g.116791070G>A | CA229338237 | APOA5 | c.162-3C>T (n.162-3C>T) c.243C>T (p.Ser81=) | dbSNP |
11 | g.116791070G= | CA2002741304 | APOA5 | c.162-3C= (n.162-3C=) c.243C= (p.Ser81=) | |
11 | g.116791070G>T | CA2616086663 | APOA5 | c.162-3C>A (n.162-3C>A) c.243C>A (p.Ser81=) | gnomAD v4 |
11 | g.116791071del | CA2616086661 | APOA5 | c.162-3del (n.162-3del) c.243del (p.Arg82GlyfsTer3) | gnomAD v4 |
11 | g.116791071G>T | CA2616086665 | APOA5 | c.162-4C>A (n.162-4C>A) c.242C>A (p.Ser81Tyr) | gnomAD v4 |
11 | g.116791072A>T | CA2580083557 | APOA5 | c.162-5T>A (n.162-5T>A) c.241T>A (p.Ser81Thr) | ClinVar gnomAD v4 |
11 | g.116791073G>A | CA2616086669 | APOA5 | c.162-6C>T (n.162-6C>T) c.240C>T (p.Phe80=) | gnomAD v4 |
11 | g.116791073G>T | CA2616086671 | APOA5 | c.162-6C>A (n.162-6C>A) c.240C>A (p.Phe80Leu) | gnomAD v4 |
11 | g.116791075A= | CA2002741309 | APOA5 | c.162-8T= (n.162-8T=) c.238T= (p.Phe80=) | |
11 | g.116791075A>C | CA6289119 | APOA5 | c.162-8T>G (n.162-8T>G) c.238T>G (p.Phe80Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.116791075A>G | CA2616086674 | APOA5 | c.162-8T>C (n.162-8T>C) c.238T>C (p.Phe80Leu) | gnomAD v4 |
11 | g.116791076G>T | CA2616086675 | APOA5 | c.162-9C>A (n.162-9C>A) c.237C>A (p.Pro79=) | gnomAD v4 |
11 | g.116791077G>T | CA2616086677 | APOA5 | c.162-10C>A (n.162-10C>A) c.236C>A (p.Pro79His) | gnomAD v4 |
11 | g.116791078G>A | CA229338241 | APOA5 | c.162-11C>T (n.162-11C>T) c.235C>T (p.Pro79Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.116791078G= | CA2002741311 | APOA5 | c.162-11C= (n.162-11C=) c.235C= (p.Pro79=) | |
11 | g.116791078G>T | CA2616086681 | APOA5 | c.162-11C>A (n.162-11C>A) c.235C>A (p.Pro79Thr) | gnomAD v4 |
11 | g.116791079G>A | CA942583331 | APOA5 | c.162-12C>T (n.162-12C>T) c.234C>T (p.Val78=) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.116791079G= | CA2002741313 | APOA5 | c.162-12C= (n.162-12C=) c.234C= (p.Val78=) | |
11 | g.116791079G>T | CA2616086683 | APOA5 | c.162-12C>A (n.162-12C>A) c.234C>A (p.Val78=) | gnomAD v4 |
11 | g.116791080A>G | CA2616086684 | APOA5 | c.162-13T>C (n.162-13T>C) c.233T>C (p.Val78Ala) | gnomAD v4 |
11 | g.116791080A>T | CA2616086685 | APOA5 | c.162-13T>A (n.162-13T>A) c.233T>A (p.Val78Asp) | gnomAD v4 |
11 | g.116791081C>A | CA2616086686 | APOA5 | c.162-14G>T (n.162-14G>T) c.232G>T (p.Val78Phe) | gnomAD v4 |
11 | g.116791081C>T | CA2616086687 | APOA5 | c.162-14G>A (n.162-14G>A) c.232G>A (p.Val78Ile) | gnomAD v4 |
11 | g.116791082A>G | CA2616086688 | APOA5 | c.162-15T>C (n.162-15T>C) c.231T>C (p.Ser77=) | gnomAD v4 |
11 | g.116791083G>A | CA601831205 | APOA5 | c.162-16C>T (n.162-16C>T) c.230C>T (p.Ser77Phe) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.116791083G= | CA2002741315 | APOA5 | c.162-16C= (n.162-16C=) c.230C= (p.Ser77=) | |
11 | g.116791083G>T | CA2616086690 | APOA5 | c.162-16C>A (n.162-16C>A) c.230C>A (p.Ser77Tyr) | gnomAD v4 |
11 | g.116791085T>C | CA229338244 | APOA5 | c.162-18A>G (n.162-18A>G) c.228A>G (p.Ile76Met) | dbSNP |
11 | g.116791085T= | CA2002741317 | APOA5 | c.162-18A= (n.162-18A=) c.228A= (p.Ile76=) | |
11 | g.116791087T>A | CA2616086692 | APOA5 | c.162-20A>T (n.162-20A>T) c.226A>T (p.Ile76Leu) | gnomAD v4 |
11 | g.116791087T>C | CA6289120 | APOA5 | c.162-20A>G (n.162-20A>G) c.226A>G (p.Ile76Val) | dbSNP ExAC gnomAD v2 |
11 | g.116791087T= | CA2002741320 | APOA5 | c.162-20A= (n.162-20A=) c.226A= (p.Ile76=) | |
11 | g.116791088C>A | CA2574986399 | APOA5 | c.162-21G>T (n.162-21G>T) c.225G>T (p.Trp75Cys) | gnomAD v4 |
11 | g.116791088C= | CA2002741324 | APOA5 | c.162-21G= (n.162-21G=) c.225G= (p.Trp75=) | |
11 | g.116791088C>G | CA229338249 | APOA5 | c.162-21G>C (n.162-21G>C) c.225G>C (p.Trp75Cys) | dbSNP |
11 | g.116791089del | CA2574986400 | APOA5 | c.162-21del (n.162-21del) c.225del (p.Trp75Ter) | gnomAD v4 |
11 | g.116791089C>A | CA601831206 | APOA5 | c.162-22G>T (n.162-22G>T) c.224G>T (p.Trp75Leu) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.116791089C= | CA2002741327 | APOA5 | c.162-22G= (n.162-22G=) c.224G= (p.Trp75=) | |
11 | g.116791089C>T | CA601831207 | APOA5 | c.162-22G>A (n.162-22G>A) c.224G>A (p.Trp75Ter) | dbSNP gnomAD v2 |
11 | g.116791090del | CA2574986401 | APOA5 | c.162-23del (n.162-23del) c.223del (p.Trp75GlyfsTer10) | |
11 | g.116791090A= | CA2002741329 | APOA5 | c.162-23T= (n.162-23T=) c.223T= (p.Trp75=) | |
11 | g.116791090A>G | CA672157476 | APOA5 | c.162-23T>C (n.162-23T>C) c.223T>C (p.Trp75Arg) | dbSNP gnomAD v4 |
11 | g.116791090A>T | CA2616086694 | APOA5 | c.162-23T>A (n.162-23T>A) c.223T>A (p.Trp75Arg) | gnomAD v4 |
11 | g.116791091G>T | CA2616086696 | APOA5 | c.162-24C>A (n.162-24C>A) c.222C>A (p.Ala74=) | gnomAD v4 |
11 | g.116791092G>A | CA601831208 | APOA5 | c.162-25C>T (n.162-25C>T) c.221C>T (p.Ala74Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.116791092G= | CA2002741331 | APOA5 | c.162-25C= (n.162-25C=) c.221C= (p.Ala74=) | |
11 | g.116791092G>T | CA2616086698 | APOA5 | c.162-25C>A (n.162-25C>A) c.221C>A (p.Ala74Asp) | gnomAD v4 |
11 | g.116791093C>A | CA2616086699 | APOA5 | c.162-26G>T (n.162-26G>T) c.220G>T (p.Ala74Ser) | gnomAD v4 |
11 | g.116791093C>T | CA2616086700 | APOA5 | c.162-26G>A (n.162-26G>A) c.220G>A (p.Ala74Thr) | gnomAD v4 |
11 | g.116791094C>A | CA2616086701 | APOA5 | c.162-27G>T (n.162-27G>T) c.219G>T (p.Thr73=) | gnomAD v4 |
11 | g.116791094C>T | CA2616086702 | APOA5 | c.162-27G>A (n.162-27G>A) c.219G>A (p.Thr73=) | gnomAD v4 |
11 | g.116791095G>A | CA2541127093 | APOA5 | c.162-28C>T (n.162-28C>T) c.218C>T (p.Thr73Met) | gnomAD v4 |
11 | g.116791095G>T | CA2616086704 | APOA5 | c.162-28C>A (n.162-28C>A) c.218C>A (p.Thr73Lys) | gnomAD v4 |
11 | g.116791096T>A | CA2616086706 | APOA5 | c.162-29A>T (n.162-29A>T) c.217A>T (p.Thr73Ser) | gnomAD v4 |
11 | g.116791097C>A | CA2616086709 | APOA5 | c.162-30G>T (n.162-30G>T) c.216G>T (p.Leu72=) | gnomAD v4 |
11 | g.116791097C= | CA2002741333 | APOA5 | c.162-30G= (n.162-30G=) c.216G= (p.Leu72=) | |
11 | g.116791097C>G | CA601831209 | APOA5 | c.162-30G>C (n.162-30G>C) c.216G>C (p.Leu72=) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.116791099G>T | CA2616086711 | APOA5 | c.162-32C>A (n.162-32C>A) c.214C>A (p.Leu72Met) | gnomAD v4 |
11 | g.116791100A>C | CA2574986403 | APOA5 | c.162-33T>G (n.162-33T>G) c.213T>G (p.Ser71Arg) | dbSNP |
11 | g.116791100A>G | CA2574986402 | APOA5 | c.162-33T>C (n.162-33T>C) c.213T>C (p.Ser71=) | |
11 | g.116791101C>A | CA601831210 | APOA5 | c.162-34G>T (n.162-34G>T) c.212G>T (p.Ser71Ile) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.116791101C= | CA2002741335 | APOA5 | c.162-34G= (n.162-34G=) c.212G= (p.Ser71=) | |
11 | g.116791101C>T | CA2616086713 | APOA5 | c.162-34G>A (n.162-34G>A) c.212G>A (p.Ser71Asn) | gnomAD v4 |
11 | g.116791102T>A | CA2616086715 | APOA5 | c.162-35A>T (n.162-35A>T) c.211A>T (p.Ser71Cys) | gnomAD v4 |
11 | g.116791102T>C | CA6289121 | APOA5 | c.162-35A>G (n.162-35A>G) c.211A>G (p.Ser71Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.116791102T= | CA2002741337 | APOA5 | c.162-35A= (n.162-35A=) c.211A= (p.Ser71=) | |
11 | g.116791103G>A | CA2616086718 | APOA5 | c.162-36C>T (n.162-36C>T) c.210C>T (p.Ser70=) | gnomAD v4 |
11 | g.116791103G>T | CA2616086719 | APOA5 | c.162-36C>A (n.162-36C>A) c.210C>A (p.Ser70Arg) | gnomAD v4 |
11 | g.116791104C>A | CA2616086720 | APOA5 | c.162-37G>T (n.162-37G>T) c.209G>T (p.Ser70Ile) | gnomAD v4 |
11 | g.116791104C= | CA2002741339 | APOA5 | c.162-37G= (n.162-37G=) c.209G= (p.Ser70=) | |
11 | g.116791104C>T | CA601831211 | APOA5 | c.162-37G>A (n.162-37G>A) c.209G>A (p.Ser70Asn) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.116791106A>G | CA2616086721 | APOA5 | c.162-39T>C (n.162-39T>C) c.207T>C (p.Ala69=) | gnomAD v4 |
11 | g.116791106A>T | CA2616086722 | APOA5 | c.162-39T>A (n.162-39T>A) c.207T>A (p.Ala69=) | gnomAD v4 |
11 | g.116791107G>A | CA6289122 | APOA5 | c.162-40C>T (n.162-40C>T) c.206C>T (p.Ala69Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.116791107G>C | CA2616086726 | APOA5 | c.162-40C>G (n.162-40C>G) c.206C>G (p.Ala69Gly) | gnomAD v4 |
11 | g.116791107G= | CA2002741341 | APOA5 | c.162-40C= (n.162-40C=) c.206C= (p.Ala69=) | |
11 | g.116791107G>T | CA2616086728 | APOA5 | c.162-40C>A (n.162-40C>A) c.206C>A (p.Ala69Asp) | gnomAD v4 |