Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.96429259C>A | CA3350551 | PCSK1 | c.239G>T (p.Arg80Leu) c.98G>T (p.Arg33Leu) n.354+49607C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.96429259C= | CA1565418085 | PCSK1 | c.239G= (p.Arg80=) c.98G= (p.Arg33=) n.354+49607C= | |
5 | g.96429259C>G | CA360485239 | PCSK1 | c.239G>C (p.Arg80Pro) c.98G>C (p.Arg33Pro) n.354+49607C>G | gnomAD v4 |
5 | g.96429259C>T | CA3350550 | PCSK1 | c.239G>A (p.Arg80Gln) c.98G>A (p.Arg33Gln) n.354+49607C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.96429260G>A | CA360485240 | PCSK1 | c.238C>T (p.Arg80Ter) c.97C>T (p.Arg33Ter) n.354+49608G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
5 | g.96429260G>C | CA3350552 | PCSK1 | c.238C>G (p.Arg80Gly) c.97C>G (p.Arg33Gly) n.354+49608G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.96429260G= | CA1565418086 | PCSK1 | c.238C= (p.Arg80=) c.97C= (p.Arg33=) n.354+49608G= | |
5 | g.96429260G>T | CA445498881 | PCSK1 | c.238C>A (p.Arg80=) c.97C>A (p.Arg33=) n.354+49608G>T | |
5 | g.96429261A>C | CA445498882 | PCSK1 | c.237T>G (p.Ser79=) c.96T>G (p.Ser32=) n.354+49609A>C | |
5 | g.96429261A>G | CA445498883 | PCSK1 | c.237T>C (p.Ser79=) c.96T>C (p.Ser32=) n.354+49609A>G | |
5 | g.96429261A>T | CA445498884 | PCSK1 | c.237T>A (p.Ser79=) c.96T>A (p.Ser32=) n.354+49609A>T | |
5 | g.96429262G>A | CA360485241 | PCSK1 | c.236C>T (p.Ser79Phe) c.95C>T (p.Ser32Phe) n.354+49610G>A | gnomAD v4 |
5 | g.96429262G>C | CA360485242 | PCSK1 | c.236C>G (p.Ser79Cys) c.95C>G (p.Ser32Cys) n.354+49610G>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.96429262G= | CA1565418087 | PCSK1 | c.236C= (p.Ser79=) c.95C= (p.Ser32=) n.354+49610G= | |
5 | g.96429262G>T | CA360485243 | PCSK1 | c.236C>A (p.Ser79Tyr) c.95C>A (p.Ser32Tyr) n.354+49610G>T | dbSNP |
5 | g.96429263A>C | CA360485244 | PCSK1 | c.235T>G (p.Ser79Ala) c.94T>G (p.Ser32Ala) n.354+49611A>C | |
5 | g.96429263A>G | CA360485246 | PCSK1 | c.235T>C (p.Ser79Pro) c.94T>C (p.Ser32Pro) n.354+49611A>G | |
5 | g.96429263A>T | CA360485245 | PCSK1 | c.235T>A (p.Ser79Thr) c.94T>A (p.Ser32Thr) n.354+49611A>T | |
5 | g.96429264C>A | CA3350553 | PCSK1 | c.234G>T (p.Arg78Ser) c.93G>T (p.Arg31Ser) n.354+49612C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.96429264C= | CA1565418089 | PCSK1 | c.234G= (p.Arg78=) c.93G= (p.Arg31=) n.354+49612C= | |
5 | g.96429264C>G | CA360485247 | PCSK1 | c.234G>C (p.Arg78Ser) c.93G>C (p.Arg31Ser) n.354+49612C>G | |
5 | g.96429264C>T | CA445498885 | PCSK1 | c.234G>A (p.Arg78=) c.93G>A (p.Arg31=) n.354+49612C>T | |
5 | g.96429264_96429267delinsCCTT | CA1565418088 | PCSK1 | c.231_234delinsAAGG (p.Arg77=) c.90_93delinsAAGG (p.Arg30=) n.354+49612_354+49615delinsCCTT | |
5 | g.96429265C>A | CA360485248 | PCSK1 | c.233G>T (p.Arg78Met) c.92G>T (p.Arg31Met) n.354+49613C>A | |
5 | g.96429265C= | CA1565418090 | PCSK1 | c.233G= (p.Arg78=) c.92G= (p.Arg31=) n.354+49613C= | |
5 | g.96429265C>G | CA360485249 | PCSK1 | c.233G>C (p.Arg78Thr) c.92G>C (p.Arg31Thr) n.354+49613C>G | |
5 | g.96429265C>T | CA360485250 | PCSK1 | c.233G>A (p.Arg78Lys) c.92G>A (p.Arg31Lys) n.354+49613C>T | ClinVar dbSNP gnomAD v4 COSMIC |
5 | g.96429267_96429269del | CA561285026 | PCSK1 | c.231_233del (p.Arg78del) c.90_92del (p.Arg31del) n.354+49615_354+49617del | dbSNP gnomAD v2 |
5 | g.96429266T>A | CA360485251 | PCSK1 | c.232A>T (p.Arg78Trp) c.91A>T (p.Arg31Trp) n.354+49614T>A | |
5 | g.96429266T>C | CA360485252 | PCSK1 | c.232A>G (p.Arg78Gly) c.91A>G (p.Arg31Gly) n.354+49614T>C | |
5 | g.96429266T>G | CA445498886 | PCSK1 | c.232A>C (p.Arg78=) c.91A>C (p.Arg31=) n.354+49614T>G | |
5 | g.96429267del | CA2674667202 | PCSK1 | c.232del (p.Arg78GlyfsTer19) c.91del (p.Arg31GlyfsTer19) n.354+49615del | gnomAD v4 |
5 | g.96429267T>A | CA360485253 | PCSK1 | c.231A>T (p.Arg77Ser) c.90A>T (p.Arg30Ser) n.354+49615T>A | |
5 | g.96429267T>C | CA445498887 | PCSK1 | c.231A>G (p.Arg77=) c.90A>G (p.Arg30=) n.354+49615T>C | |
5 | g.96429267T>G | CA360485254 | PCSK1 | c.231A>C (p.Arg77Ser) c.90A>C (p.Arg30Ser) n.354+49615T>G | gnomAD v4 |
5 | g.96429268C>A | CA360485255 | PCSK1 | c.230G>T (p.Arg77Ile) c.89G>T (p.Arg30Ile) n.354+49616C>A | |
5 | g.96429268C>G | CA360485256 | PCSK1 | c.230G>C (p.Arg77Thr) c.89G>C (p.Arg30Thr) n.354+49616C>G | |
5 | g.96429268C>T | CA360485257 | PCSK1 | c.230G>A (p.Arg77Lys) c.89G>A (p.Arg30Lys) n.354+49616C>T | |
5 | g.96429269T>A | CA360485259 | PCSK1 | c.229A>T (p.Arg77Ter) c.88A>T (p.Arg30Ter) n.354+49617T>A | |
5 | g.96429269T>C | CA360485258 | PCSK1 | c.229A>G (p.Arg77Gly) c.88A>G (p.Arg30Gly) n.354+49617T>C | |
5 | g.96429269T>G | CA445498888 | PCSK1 | c.229A>C (p.Arg77=) c.88A>C (p.Arg30=) n.354+49617T>G | |
5 | g.96429270G>A | CA3350554 | PCSK1 | c.228C>T (p.Pro76=) c.87C>T (p.Pro29=) n.354+49618G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.96429270G>C | CA445498889 | PCSK1 | c.228C>G (p.Pro76=) c.87C>G (p.Pro29=) n.354+49618G>C | |
5 | g.96429270G= | CA1565418091 | PCSK1 | c.228C= (p.Pro76=) c.87C= (p.Pro29=) n.354+49618G= | |
5 | g.96429270G>T | CA445498890 | PCSK1 | c.228C>A (p.Pro76=) c.87C>A (p.Pro29=) n.354+49618G>T | |
5 | g.96429273del | CA2578366384 | PCSK1 | c.228del (p.Arg77GlufsTer20) c.87del (p.Arg30GlufsTer20) n.354+49621del | gnomAD v4 |
5 | g.96429271G>A | CA360485260 | PCSK1 | c.227C>T (p.Pro76Leu) c.86C>T (p.Pro29Leu) n.354+49619G>A | |
5 | g.96429271G>C | CA360485261 | PCSK1 | c.227C>G (p.Pro76Arg) c.86C>G (p.Pro29Arg) n.354+49619G>C | |
5 | g.96429271G>T | CA360485262 | PCSK1 | c.227C>A (p.Pro76His) c.86C>A (p.Pro29His) n.354+49619G>T | gnomAD v4 |
5 | g.96429272G>A | CA3350555 | PCSK1 | c.226C>T (p.Pro76Ser) c.85C>T (p.Pro29Ser) n.354+49620G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |