Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.44919204A>C | CA406311184 | APOC1 | c.226A>C (p.Lys76Gln) c.260A>C (p.Glu87Ala) c.90A>C (p.Ter30Cys) c.*95A>C (n.*95A>C) c.*226A>C (n.*226A>C) c.371A>C (p.Glu124Ala) | |
19 | g.44919204A>G | CA406311185 | APOC1 | c.226A>G (p.Lys76Glu) c.260A>G (p.Glu87Gly) c.90A>G (p.Ter30Trp) c.*95A>G (n.*95A>G) c.*226A>G (n.*226A>G) c.371A>G (p.Glu124Gly) | |
19 | g.44919204A>T | CA406311188 | APOC1 | c.226A>T (p.Lys76Ter) c.260A>T (p.Glu87Val) c.90A>T (p.Ter30Cys) c.*95A>T (n.*95A>T) c.*226A>T (n.*226A>T) c.371A>T (p.Glu124Val) | |
19 | g.44919205A>C | CA406311190 | APOC1 | c.227A>C (p.Lys76Thr) c.261A>C (p.Glu87Asp) c.*1A>C (n.*1A>C) c.*96A>C (n.*96A>C) c.*227A>C (n.*227A>C) c.372A>C (p.Glu124Asp) | |
19 | g.44919205A>G | CA406311192 | APOC1 | c.227A>G (p.Lys76Arg) c.261A>G (p.Glu87=) c.*1A>G (n.*1A>G) c.*96A>G (n.*96A>G) c.*227A>G (n.*227A>G) c.372A>G (p.Glu124=) | |
19 | g.44919205A>T | CA406311194 | APOC1 | c.227A>T (p.Lys76Met) c.261A>T (p.Glu87Asp) c.*1A>T (n.*1A>T) c.*96A>T (n.*96A>T) c.*227A>T (n.*227A>T) c.372A>T (p.Glu124Asp) | |
19 | g.44919206G>A | CA406311198 | APOC1 | c.228G>A (p.Lys76=) c.262G>A (p.Gly88Arg) c.*2G>A (n.*2G>A) c.*97G>A (n.*97G>A) c.*228G>A (n.*228G>A) c.373G>A (p.Gly125Arg) | |
19 | g.44919206G>C | CA406311196 | APOC1 | c.228G>C (p.Lys76Asn) c.262G>C (p.Gly88Arg) c.*2G>C (n.*2G>C) c.*97G>C (n.*97G>C) c.*228G>C (n.*228G>C) c.373G>C (p.Gly125Arg) | |
19 | g.44919206G>T | CA406311197 | APOC1 | c.228G>T (p.Lys76Asn) c.262G>T (p.Gly88Ter) c.*2G>T (n.*2G>T) c.*97G>T (n.*97G>T) c.*228G>T (n.*228G>T) c.373G>T (p.Gly125Ter) | |
19 | g.44919207G>A | CA406311199 | APOC1 | c.229G>A (p.Glu77Lys) c.263G>A (p.Gly88Glu) c.*3G>A (n.*3G>A) c.*98G>A (n.*98G>A) c.*229G>A (n.*229G>A) c.374G>A (p.Gly125Glu) | COSMIC |
19 | g.44919207G>C | CA406311200 | APOC1 | c.229G>C (p.Glu77Gln) c.263G>C (p.Gly88Ala) c.*3G>C (n.*3G>C) c.*98G>C (n.*98G>C) c.*229G>C (n.*229G>C) c.374G>C (p.Gly125Ala) | |
19 | g.44919207G>T | CA406311201 | APOC1 | c.229G>T (p.Glu77Ter) c.263G>T (p.Gly88Val) c.*3G>T (n.*3G>T) c.*98G>T (n.*98G>T) c.*229G>T (n.*229G>T) c.374G>T (p.Gly125Val) | |
19 | g.44919208A>C | CA406311202 | APOC1 | c.230A>C (p.Glu77Ala) c.264A>C (p.Gly88=) c.*4A>C (n.*4A>C) c.*99A>C (n.*99A>C) c.*230A>C (n.*230A>C) c.375A>C (p.Gly125=) | |
19 | g.44919208A>G | CA406311203 | APOC1 | c.230A>G (p.Glu77Gly) c.264A>G (p.Gly88=) c.*4A>G (n.*4A>G) c.*99A>G (n.*99A>G) c.*230A>G (n.*230A>G) c.375A>G (p.Gly125=) | |
19 | g.44919208A>T | CA406311204 | APOC1 | c.230A>T (p.Glu77Val) c.264A>T (p.Gly88=) c.*4A>T (n.*4A>T) c.*99A>T (n.*99A>T) c.*230A>T (n.*230A>T) c.375A>T (p.Gly125=) | |
19 | g.44919209G>A | CA406311206 | APOC1 | c.231G>A (p.Glu77=) c.265G>A (p.Glu89Lys) c.*5G>A (n.*5G>A) c.*100G>A (n.*100G>A) c.*231G>A (n.*231G>A) c.376G>A (p.Glu126Lys) | |
19 | g.44919209G>C | CA406311207 | APOC1 | c.231G>C (p.Glu77Asp) c.265G>C (p.Glu89Gln) c.*5G>C (n.*5G>C) c.*100G>C (n.*100G>C) c.*231G>C (n.*231G>C) c.376G>C (p.Glu126Gln) | |
19 | g.44919209G>T | CA406311205 | APOC1 | c.231G>T (p.Glu77Asp) c.265G>T (p.Glu89Ter) c.*5G>T (n.*5G>T) c.*100G>T (n.*100G>T) c.*231G>T (n.*231G>T) c.376G>T (p.Glu126Ter) | |
19 | g.44919210A>C | CA406311209 | APOC1 | c.232A>C (p.Lys78Gln) c.266A>C (p.Glu89Ala) c.*6A>C (n.*6A>C) c.*101A>C (n.*101A>C) c.*232A>C (n.*232A>C) c.377A>C (p.Glu126Ala) | |
19 | g.44919210A>G | CA406311208 | APOC1 | c.232A>G (p.Lys78Glu) c.266A>G (p.Glu89Gly) c.*6A>G (n.*6A>G) c.*101A>G (n.*101A>G) c.*232A>G (n.*232A>G) c.377A>G (p.Glu126Gly) | |
19 | g.44919210A>T | CA406311210 | APOC1 | c.232A>T (p.Lys78Ter) c.266A>T (p.Glu89Val) c.*6A>T (n.*6A>T) c.*101A>T (n.*101A>T) c.*232A>T (n.*232A>T) c.377A>T (p.Glu126Val) | |
19 | g.44919211A>C | CA406311211 | APOC1 | c.233A>C (p.Lys78Thr) c.267A>C (p.Glu89Asp) c.*7A>C (n.*7A>C) c.*102A>C (n.*102A>C) c.*233A>C (n.*233A>C) c.378A>C (p.Glu126Asp) | |
19 | g.44919211A>G | CA406311212 | APOC1 | c.233A>G (p.Lys78Arg) c.267A>G (p.Glu89=) c.*7A>G (n.*7A>G) c.*102A>G (n.*102A>G) c.*233A>G (n.*233A>G) c.378A>G (p.Glu126=) | |
19 | g.44919211A>T | CA406311213 | APOC1 | c.233A>T (p.Lys78Ile) c.267A>T (p.Glu89Asp) c.*7A>T (n.*7A>T) c.*102A>T (n.*102A>T) c.*233A>T (n.*233A>T) c.378A>T (p.Glu126Asp) | |
19 | g.44919212A= | CA2338173436 | APOC1 | c.234A= (p.Lys78=) c.268A= (p.Thr90=) c.*8A= (n.*8A=) c.*103A= (n.*103A=) c.*234A= (n.*234A=) c.379A= (p.Thr127=) | |
19 | g.44919212A>C | CA406311214 | APOC1 | c.234A>C (p.Lys78Asn) c.268A>C (p.Thr90Pro) c.*8A>C (n.*8A>C) c.*103A>C (n.*103A>C) c.*234A>C (n.*234A>C) c.379A>C (p.Thr127Pro) | |
19 | g.44919212A>G | CA406311215 | APOC1 | c.234A>G (p.Lys78=) c.268A>G (p.Thr90Ala) c.*8A>G (n.*8A>G) c.*103A>G (n.*103A>G) c.*234A>G (n.*234A>G) c.379A>G (p.Thr127Ala) | dbSNP gnomAD v4 |
19 | g.44919212A>T | CA406311216 | APOC1 | c.234A>T (p.Lys78Asn) c.268A>T (p.Thr90Ser) c.*8A>T (n.*8A>T) c.*103A>T (n.*103A>T) c.*234A>T (n.*234A>T) c.379A>T (p.Thr127Ser) | |
19 | g.44919213C>A | CA406311217 | APOC1 | c.235C>A (p.Leu79Ile) c.269C>A (p.Thr90Asn) c.*9C>A (n.*9C>A) c.*104C>A (n.*104C>A) c.*235C>A (n.*235C>A) c.380C>A (p.Thr127Asn) | |
19 | g.44919213C>G | CA406311218 | APOC1 | c.235C>G (p.Leu79Val) c.269C>G (p.Thr90Ser) c.*9C>G (n.*9C>G) c.*104C>G (n.*104C>G) c.*235C>G (n.*235C>G) c.380C>G (p.Thr127Ser) | gnomAD v4 |
19 | g.44919213C>T | CA406311220 | APOC1 | c.235C>T (p.Leu79Phe) c.269C>T (p.Thr90Ile) c.*9C>T (n.*9C>T) c.*104C>T (n.*104C>T) c.*235C>T (n.*235C>T) c.380C>T (p.Thr127Ile) | |
19 | g.44919214T>A | CA406311221 | APOC1 | c.236T>A (p.Leu79His) c.270T>A (p.Thr90=) c.*10T>A (n.*10T>A) c.*105T>A (n.*105T>A) c.*236T>A (n.*236T>A) c.381T>A (p.Thr127=) | |
19 | g.44919214T>C | CA406311223 | APOC1 | c.236T>C (p.Leu79Pro) c.270T>C (p.Thr90=) c.*10T>C (n.*10T>C) c.*105T>C (n.*105T>C) c.*236T>C (n.*236T>C) c.381T>C (p.Thr127=) | |
19 | g.44919214T>G | CA406311224 | APOC1 | c.236T>G (p.Leu79Arg) c.270T>G (p.Thr90=) c.*10T>G (n.*10T>G) c.*105T>G (n.*105T>G) c.*236T>G (n.*236T>G) c.381T>G (p.Thr127=) | |
19 | g.44919215C>A | CA406311230 | APOC1 | c.237C>A (p.Leu79=) c.271C>A (p.Gln91Lys) c.*11C>A (n.*11C>A) c.*106C>A (n.*106C>A) c.*237C>A (n.*237C>A) c.382C>A (p.Gln128Lys) | |
19 | g.44919215C>G | CA406311229 | APOC1 | c.237C>G (p.Leu79=) c.271C>G (p.Gln91Glu) c.*11C>G (n.*11C>G) c.*106C>G (n.*106C>G) c.*237C>G (n.*237C>G) c.382C>G (p.Gln128Glu) | gnomAD v4 |
19 | g.44919215C>T | CA406311227 | APOC1 | c.237C>T (p.Leu79=) c.271C>T (p.Gln91Ter) c.*11C>T (n.*11C>T) c.*106C>T (n.*106C>T) c.*237C>T (n.*237C>T) c.382C>T (p.Gln128Ter) | |
19 | g.44919216A>C | CA406311232 | APOC1 | c.238A>C (p.Lys80Gln) c.272A>C (p.Gln91Pro) c.*12A>C (n.*12A>C) c.*107A>C (n.*107A>C) c.*238A>C (n.*238A>C) c.383A>C (p.Gln128Pro) | gnomAD v4 |
19 | g.44919216A>G | CA406311234 | APOC1 | c.238A>G (p.Lys80Glu) c.272A>G (p.Gln91Arg) c.*12A>G (n.*12A>G) c.*107A>G (n.*107A>G) c.*238A>G (n.*238A>G) c.383A>G (p.Gln128Arg) | |
19 | g.44919216A>T | CA406311236 | APOC1 | c.238A>T (p.Lys80Ter) c.272A>T (p.Gln91Leu) c.*12A>T (n.*12A>T) c.*107A>T (n.*107A>T) c.*238A>T (n.*238A>T) c.383A>T (p.Gln128Leu) | |
19 | g.44919217A>C | CA406311238 | APOC1 | c.239A>C (p.Lys80Thr) c.273A>C (p.Gln91His) c.*13A>C (n.*13A>C) c.*108A>C (n.*108A>C) c.*239A>C (n.*239A>C) c.384A>C (p.Gln128His) | |
19 | g.44919217A>G | CA406311240 | APOC1 | c.239A>G (p.Lys80Arg) c.273A>G (p.Gln91=) c.*13A>G (n.*13A>G) c.*108A>G (n.*108A>G) c.*239A>G (n.*239A>G) c.384A>G (p.Gln128=) | gnomAD v4 |
19 | g.44919217A>T | CA406311242 | APOC1 | c.239A>T (p.Lys80Met) c.273A>T (p.Gln91His) c.*13A>T (n.*13A>T) c.*108A>T (n.*108A>T) c.*239A>T (n.*239A>T) c.384A>T (p.Gln128His) | |
19 | g.44919218G>A | CA406311243 | APOC1 | c.240G>A (p.Lys80=) c.274G>A (p.Asp92Asn) c.*14G>A (n.*14G>A) c.*109G>A (n.*109G>A) c.*240G>A (n.*240G>A) c.385G>A (p.Asp129Asn) | |
19 | g.44919218G>C | CA406311245 | APOC1 | c.240G>C (p.Lys80Asn) c.274G>C (p.Asp92His) c.*14G>C (n.*14G>C) c.*109G>C (n.*109G>C) c.*240G>C (n.*240G>C) c.385G>C (p.Asp129His) | |
19 | g.44919218G>T | CA406311247 | APOC1 | c.240G>T (p.Lys80Asn) c.274G>T (p.Asp92Tyr) c.*14G>T (n.*14G>T) c.*109G>T (n.*109G>T) c.*240G>T (n.*240G>T) c.385G>T (p.Asp129Tyr) | |
19 | g.44919219A>C | CA406311250 | APOC1 | c.241A>C (p.Ile81Leu) c.275A>C (p.Asp92Ala) c.*15A>C (n.*15A>C) c.*110A>C (n.*110A>C) c.*241A>C (n.*241A>C) c.386A>C (p.Asp129Ala) | |
19 | g.44919219A>G | CA406311252 | APOC1 | c.241A>G (p.Ile81Val) c.275A>G (p.Asp92Gly) c.*15A>G (n.*15A>G) c.*110A>G (n.*110A>G) c.*241A>G (n.*241A>G) c.386A>G (p.Asp129Gly) | |
19 | g.44919219A>T | CA406311254 | APOC1 | c.241A>T (p.Ile81Phe) c.275A>T (p.Asp92Val) c.*15A>T (n.*15A>T) c.*110A>T (n.*110A>T) c.*241A>T (n.*241A>T) c.386A>T (p.Asp129Val) | |
19 | g.44919220T>A | CA406311257 | APOC1 | c.242T>A (p.Ile81Asn) c.276T>A (p.Asp92Glu) c.*16T>A (n.*16T>A) c.*111T>A (n.*111T>A) c.*242T>A (n.*242T>A) c.387T>A (p.Asp129Glu) |