| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.39872281C>A | CA399279219 | ZPBP2 | c.418C>A (p.Pro140Thr) c.352C>A (p.Pro118Thr) c.64C>A (p.Pro22Thr) c.406+656C>A (n.406+656C>A) n.609C>A | gnomAD v4 |
| 17 | g.39872281C>G | CA399279224 | ZPBP2 | c.418C>G (p.Pro140Ala) c.352C>G (p.Pro118Ala) c.64C>G (p.Pro22Ala) c.406+656C>G (n.406+656C>G) n.609C>G | |
| 17 | g.39872281C>T | CA399279226 | ZPBP2 | c.418C>T (p.Pro140Ser) c.352C>T (p.Pro118Ser) c.64C>T (p.Pro22Ser) c.406+656C>T (n.406+656C>T) n.609C>T | |
| 17 | g.39872282C>A | CA399279229 | ZPBP2 | c.419C>A (p.Pro140His) c.353C>A (p.Pro118His) c.65C>A (p.Pro22His) c.406+657C>A (n.406+657C>A) n.610C>A | gnomAD v4 |
| 17 | g.39872282C>G | CA399279228 | ZPBP2 | c.419C>G (p.Pro140Arg) c.353C>G (p.Pro118Arg) c.65C>G (p.Pro22Arg) c.406+657C>G (n.406+657C>G) n.610C>G | |
| 17 | g.39872282C>T | CA399279227 | ZPBP2 | c.419C>T (p.Pro140Leu) c.353C>T (p.Pro118Leu) c.65C>T (p.Pro22Leu) c.406+657C>T (n.406+657C>T) n.610C>T | gnomAD v4 |
| 17 | g.39872283T>A | CA499931591 | ZPBP2 | c.420T>A (p.Pro140=) c.354T>A (p.Pro118=) c.66T>A (p.Pro22=) c.406+658T>A (n.406+658T>A) n.611T>A | |
| 17 | g.39872283T>C | CA8535958 | ZPBP2 | c.420T>C (p.Pro140=) c.354T>C (p.Pro118=) c.66T>C (p.Pro22=) c.406+658T>C (n.406+658T>C) n.611T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.39872283T>G | CA499931592 | ZPBP2 | c.420T>G (p.Pro140=) c.354T>G (p.Pro118=) c.66T>G (p.Pro22=) c.406+658T>G (n.406+658T>G) n.611T>G | |
| 17 | g.39872283T= | CA2259290842 | ZPBP2 | c.420T= (p.Pro140=) c.354T= (p.Pro118=) c.66T= (p.Pro22=) c.406+658T= (n.406+658T=) n.611T= | |
| 17 | g.39872284G>A | CA399279232 | ZPBP2 | c.421G>A (p.Asp141Asn) c.355G>A (p.Asp119Asn) c.67G>A (p.Asp23Asn) c.406+659G>A (n.406+659G>A) n.612G>A | dbSNP COSMIC |
| 17 | g.39872284G>C | CA399279235 | ZPBP2 | c.421G>C (p.Asp141His) c.355G>C (p.Asp119His) c.67G>C (p.Asp23His) c.406+659G>C (n.406+659G>C) n.612G>C | |
| 17 | g.39872284G= | CA2259290843 | ZPBP2 | c.421G= (p.Asp141=) c.355G= (p.Asp119=) c.67G= (p.Asp23=) c.406+659G= (n.406+659G=) n.612G= | |
| 17 | g.39872284G>T | CA399279236 | ZPBP2 | c.421G>T (p.Asp141Tyr) c.355G>T (p.Asp119Tyr) c.67G>T (p.Asp23Tyr) c.406+659G>T (n.406+659G>T) n.612G>T | gnomAD v4 |
| 17 | g.39872285A= | CA2259290844 | ZPBP2 | c.422A= (p.Asp141=) c.356A= (p.Asp119=) c.68A= (p.Asp23=) c.406+660A= (n.406+660A=) n.613A= | |
| 17 | g.39872285A>C | CA399279239 | ZPBP2 | c.422A>C (p.Asp141Ala) c.356A>C (p.Asp119Ala) c.68A>C (p.Asp23Ala) c.406+660A>C (n.406+660A>C) n.613A>C | |
| 17 | g.39872285A>G | CA399279242 | ZPBP2 | c.422A>G (p.Asp141Gly) c.356A>G (p.Asp119Gly) c.68A>G (p.Asp23Gly) c.406+660A>G (n.406+660A>G) n.613A>G | dbSNP |
| 17 | g.39872285A>T | CA399279243 | ZPBP2 | c.422A>T (p.Asp141Val) c.356A>T (p.Asp119Val) c.68A>T (p.Asp23Val) c.406+660A>T (n.406+660A>T) n.613A>T | |
| 17 | g.39872286T>A | CA399279249 | ZPBP2 | c.423T>A (p.Asp141Glu) c.357T>A (p.Asp119Glu) c.69T>A (p.Asp23Glu) c.406+661T>A (n.406+661T>A) n.614T>A | |
| 17 | g.39872286T>C | CA499931593 | ZPBP2 | c.423T>C (p.Asp141=) c.357T>C (p.Asp119=) c.69T>C (p.Asp23=) c.406+661T>C (n.406+661T>C) n.614T>C | |
| 17 | g.39872286T>G | CA399279251 | ZPBP2 | c.423T>G (p.Asp141Glu) c.357T>G (p.Asp119Glu) c.69T>G (p.Asp23Glu) c.406+661T>G (n.406+661T>G) n.614T>G | |
| 17 | g.39872287T>A | CA399279253 | ZPBP2 | c.424T>A (p.Tyr142Asn) c.358T>A (p.Tyr120Asn) c.70T>A (p.Tyr24Asn) c.406+662T>A (n.406+662T>A) n.615T>A | |
| 17 | g.39872287T>C | CA399279255 | ZPBP2 | c.424T>C (p.Tyr142His) c.358T>C (p.Tyr120His) c.70T>C (p.Tyr24His) c.406+662T>C (n.406+662T>C) n.615T>C | |
| 17 | g.39872287T>G | CA399279257 | ZPBP2 | c.424T>G (p.Tyr142Asp) c.358T>G (p.Tyr120Asp) c.70T>G (p.Tyr24Asp) c.406+662T>G (n.406+662T>G) n.615T>G | |
| 17 | g.39872288A= | CA2259290845 | ZPBP2 | c.425A= (p.Tyr142=) c.359A= (p.Tyr120=) c.71A= (p.Tyr24=) c.406+663A= (n.406+663A=) n.616A= | |
| 17 | g.39872288A>C | CA399279266 | ZPBP2 | c.425A>C (p.Tyr142Ser) c.359A>C (p.Tyr120Ser) c.71A>C (p.Tyr24Ser) c.406+663A>C (n.406+663A>C) n.616A>C | |
| 17 | g.39872288A>G | CA399279265 | ZPBP2 | c.425A>G (p.Tyr142Cys) c.359A>G (p.Tyr120Cys) c.71A>G (p.Tyr24Cys) c.406+663A>G (n.406+663A>G) n.616A>G | |
| 17 | g.39872288A>T | CA8535959 | ZPBP2 | c.425A>T (p.Tyr142Phe) c.359A>T (p.Tyr120Phe) c.71A>T (p.Tyr24Phe) c.406+663A>T (n.406+663A>T) n.616A>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.39872289T>A | CA399279267 | ZPBP2 | c.426T>A (p.Tyr142Ter) c.360T>A (p.Tyr120Ter) c.72T>A (p.Tyr24Ter) c.406+664T>A (n.406+664T>A) n.617T>A | |
| 17 | g.39872289T>C | CA499931595 | ZPBP2 | c.426T>C (p.Tyr142=) c.360T>C (p.Tyr120=) c.72T>C (p.Tyr24=) c.406+664T>C (n.406+664T>C) n.617T>C | |
| 17 | g.39872289T>G | CA399279268 | ZPBP2 | c.426T>G (p.Tyr142Ter) c.360T>G (p.Tyr120Ter) c.72T>G (p.Tyr24Ter) c.406+664T>G (n.406+664T>G) n.617T>G | |
| 17 | g.39872290T>A | CA399279270 | ZPBP2 | c.427T>A (p.Ser143Thr) c.361T>A (p.Ser121Thr) c.73T>A (p.Ser25Thr) c.406+665T>A (n.406+665T>A) n.618T>A | |
| 17 | g.39872290T>C | CA399279274 | ZPBP2 | c.427T>C (p.Ser143Pro) c.361T>C (p.Ser121Pro) c.73T>C (p.Ser25Pro) c.406+665T>C (n.406+665T>C) n.618T>C | |
| 17 | g.39872290T>G | CA399279272 | ZPBP2 | c.427T>G (p.Ser143Ala) c.361T>G (p.Ser121Ala) c.73T>G (p.Ser25Ala) c.406+665T>G (n.406+665T>G) n.618T>G | |
| 17 | g.39872291C>A | CA399279277 | ZPBP2 | c.428C>A (p.Ser143Ter) c.362C>A (p.Ser121Ter) c.74C>A (p.Ser25Ter) c.406+666C>A (n.406+666C>A) n.619C>A | |
| 17 | g.39872291C= | CA2259290846 | ZPBP2 | c.428C= (p.Ser143=) c.362C= (p.Ser121=) c.74C= (p.Ser25=) c.406+666C= (n.406+666C=) n.619C= | |
| 17 | g.39872291C>G | CA399279281 | ZPBP2 | c.428C>G (p.Ser143Ter) c.362C>G (p.Ser121Ter) c.74C>G (p.Ser25Ter) c.406+666C>G (n.406+666C>G) n.619C>G | |
| 17 | g.39872291C>T | CA290455765 | ZPBP2 | c.428C>T (p.Ser143Leu) c.362C>T (p.Ser121Leu) c.74C>T (p.Ser25Leu) c.406+666C>T (n.406+666C>T) n.619C>T | dbSNP gnomAD v4 |
| 17 | g.39872292A= | CA2259290847 | ZPBP2 | c.429A= (p.Ser143=) c.363A= (p.Ser121=) c.75A= (p.Ser25=) c.406+667A= (n.406+667A=) n.620A= | |
| 17 | g.39872292A>C | CA499931597 | ZPBP2 | c.429A>C (p.Ser143=) c.363A>C (p.Ser121=) c.75A>C (p.Ser25=) c.406+667A>C (n.406+667A>C) n.620A>C | |
| 17 | g.39872292A>G | CA290455770 | ZPBP2 | c.429A>G (p.Ser143=) c.363A>G (p.Ser121=) c.75A>G (p.Ser25=) c.406+667A>G (n.406+667A>G) n.620A>G | dbSNP gnomAD v4 |
| 17 | g.39872292A>T | CA499931598 | ZPBP2 | c.429A>T (p.Ser143=) c.363A>T (p.Ser121=) c.75A>T (p.Ser25=) c.406+667A>T (n.406+667A>T) n.620A>T | |
| 17 | g.39872293T>A | CA399279286 | ZPBP2 | c.430T>A (p.Tyr144Asn) c.364T>A (p.Tyr122Asn) c.76T>A (p.Tyr26Asn) c.406+668T>A (n.406+668T>A) n.621T>A | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.39872293T>C | CA399279285 | ZPBP2 | c.430T>C (p.Tyr144His) c.364T>C (p.Tyr122His) c.76T>C (p.Tyr26His) c.406+668T>C (n.406+668T>C) n.621T>C | gnomAD v4 |
| 17 | g.39872293T>G | CA399279290 | ZPBP2 | c.430T>G (p.Tyr144Asp) c.364T>G (p.Tyr122Asp) c.76T>G (p.Tyr26Asp) c.406+668T>G (n.406+668T>G) n.621T>G | |
| 17 | g.39872293T= | CA2259290848 | ZPBP2 | c.430T= (p.Tyr144=) c.364T= (p.Tyr122=) c.76T= (p.Tyr26=) c.406+668T= (n.406+668T=) n.621T= | |
| 17 | g.39872294A>C | CA399279292 | ZPBP2 | c.431A>C (p.Tyr144Ser) c.365A>C (p.Tyr122Ser) c.77A>C (p.Tyr26Ser) c.406+669A>C (n.406+669A>C) n.622A>C | |
| 17 | g.39872294A>G | CA399279299 | ZPBP2 | c.431A>G (p.Tyr144Cys) c.365A>G (p.Tyr122Cys) c.77A>G (p.Tyr26Cys) c.406+669A>G (n.406+669A>G) n.622A>G | |
| 17 | g.39872294A>T | CA399279295 | ZPBP2 | c.431A>T (p.Tyr144Phe) c.365A>T (p.Tyr122Phe) c.77A>T (p.Tyr26Phe) c.406+669A>T (n.406+669A>T) n.622A>T | gnomAD v4 |
| 17 | g.39872296_39872300dup | CA983635327 | ZPBP2 | c.433_437dup (p.Met146IlefsTer13) c.367_371dup (p.Met124IlefsTer13) c.79_83dup (p.Met28IlefsTer13) c.406+671_406+675dup (n.406+671_406+675dup) n.624_628dup | dbSNP gnomAD v3 gnomAD v4 |