Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 |
17 | g.39872295T>A | CA399279301 | ZPBP2 | c.432T>A (p.Tyr144Ter) c.366T>A (p.Tyr122Ter) c.78T>A (p.Tyr26Ter) c.406+670T>A (n.406+670T>A) n.623T>A | |
17 | g.39872295T>C | CA499931602 | ZPBP2 | c.432T>C (p.Tyr144=) c.366T>C (p.Tyr122=) c.78T>C (p.Tyr26=) c.406+670T>C (n.406+670T>C) n.623T>C | gnomAD v4 |
17 | g.39872295T>G | CA399279303 | ZPBP2 | c.432T>G (p.Tyr144Ter) c.366T>G (p.Tyr122Ter) c.78T>G (p.Tyr26Ter) c.406+670T>G (n.406+670T>G) n.623T>G | |
17 | g.39872296C>A | CA399279308 | ZPBP2 | c.433C>A (p.Gln145Lys) c.367C>A (p.Gln123Lys) c.79C>A (p.Gln27Lys) c.406+671C>A (n.406+671C>A) n.624C>A | gnomAD v4 |
17 | g.39872296C>G | CA399279310 | ZPBP2 | c.433C>G (p.Gln145Glu) c.367C>G (p.Gln123Glu) c.79C>G (p.Gln27Glu) c.406+671C>G (n.406+671C>G) n.624C>G | |
17 | g.39872296C>T | CA399279313 | ZPBP2 | c.433C>T (p.Gln145Ter) c.367C>T (p.Gln123Ter) c.79C>T (p.Gln27Ter) c.406+671C>T (n.406+671C>T) n.624C>T | gnomAD v4 |
17 | g.39872297A= | CA2259290849 | ZPBP2 | c.434A= (p.Gln145=) c.368A= (p.Gln123=) c.80A= (p.Gln27=) c.406+672A= (n.406+672A=) n.625A= | |
17 | g.39872297A>C | CA399279315 | ZPBP2 | c.434A>C (p.Gln145Pro) c.368A>C (p.Gln123Pro) c.80A>C (p.Gln27Pro) c.406+672A>C (n.406+672A>C) n.625A>C | |
17 | g.39872297A>G | CA8535960 | ZPBP2 | c.434A>G (p.Gln145Arg) c.368A>G (p.Gln123Arg) c.80A>G (p.Gln27Arg) c.406+672A>G (n.406+672A>G) n.625A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39872297A>T | CA399279320 | ZPBP2 | c.434A>T (p.Gln145Leu) c.368A>T (p.Gln123Leu) c.80A>T (p.Gln27Leu) c.406+672A>T (n.406+672A>T) n.625A>T | |
17 | g.39872298G>A | CA499931603 | ZPBP2 | c.435G>A (p.Gln145=) c.369G>A (p.Gln123=) c.81G>A (p.Gln27=) c.406+673G>A (n.406+673G>A) n.626G>A | |
17 | g.39872298G>C | CA399279324 | ZPBP2 | c.435G>C (p.Gln145His) c.369G>C (p.Gln123His) c.81G>C (p.Gln27His) c.406+673G>C (n.406+673G>C) n.626G>C | |
17 | g.39872298G>T | CA399279325 | ZPBP2 | c.435G>T (p.Gln145His) c.369G>T (p.Gln123His) c.81G>T (p.Gln27His) c.406+673G>T (n.406+673G>T) n.626G>T | |
17 | g.39872299A= | CA2259290850 | ZPBP2 | c.436A= (p.Met146=) c.370A= (p.Met124=) c.82A= (p.Met28=) c.406+674A= (n.406+674A=) n.627A= | |
17 | g.39872299A>C | CA399279328 | ZPBP2 | c.436A>C (p.Met146Leu) c.370A>C (p.Met124Leu) c.82A>C (p.Met28Leu) c.406+674A>C (n.406+674A>C) n.627A>C | |
17 | g.39872299A>G | CA399279331 | ZPBP2 | c.436A>G (p.Met146Val) c.370A>G (p.Met124Val) c.82A>G (p.Met28Val) c.406+674A>G (n.406+674A>G) n.627A>G | |
17 | g.39872299A>T | CA399279334 | ZPBP2 | c.436A>T (p.Met146Leu) c.370A>T (p.Met124Leu) c.82A>T (p.Met28Leu) c.406+674A>T (n.406+674A>T) n.627A>T | dbSNP |
17 | g.39872300T>A | CA399279338 | ZPBP2 | c.437T>A (p.Met146Lys) c.371T>A (p.Met124Lys) c.83T>A (p.Met28Lys) c.406+675T>A (n.406+675T>A) n.628T>A | |
17 | g.39872300T>C | CA399279343 | ZPBP2 | c.437T>C (p.Met146Thr) c.371T>C (p.Met124Thr) c.83T>C (p.Met28Thr) c.406+675T>C (n.406+675T>C) n.628T>C | dbSNP gnomAD v4 |
17 | g.39872300T>G | CA399279341 | ZPBP2 | c.437T>G (p.Met146Arg) c.371T>G (p.Met124Arg) c.83T>G (p.Met28Arg) c.406+675T>G (n.406+675T>G) n.628T>G | |
17 | g.39872300T= | CA2259290851 | ZPBP2 | c.437T= (p.Met146=) c.371T= (p.Met124=) c.83T= (p.Met28=) c.406+675T= (n.406+675T=) n.628T= | |
17 | g.39872300_39872302dup | CA2637649627 | ZPBP2 | c.437_439dup (p.Met146_Ala147insVal) c.371_373dup (p.Met124_Ala125insVal) c.83_85dup (p.Met28_Ala29insVal) c.406+675_406+677dup (n.406+675_406+677dup) n.628_630dup | gnomAD v4 |
17 | g.39872302_39872305dup | CA2637649628 | ZPBP2 | c.439_442dup (p.Val148GlyfsTer15) c.373_376dup (p.Val126GlyfsTer15) c.85_88dup (p.Val30GlyfsTer15) c.406+677_406+680dup (n.406+677_406+680dup) n.630_633dup | gnomAD v4 |
17 | g.39872301G>A | CA399279346 | ZPBP2 | c.438G>A (p.Met146Ile) c.372G>A (p.Met124Ile) c.84G>A (p.Met28Ile) c.406+676G>A (n.406+676G>A) n.629G>A | |
17 | g.39872301G>C | CA399279348 | ZPBP2 | c.438G>C (p.Met146Ile) c.372G>C (p.Met124Ile) c.84G>C (p.Met28Ile) c.406+676G>C (n.406+676G>C) n.629G>C | |
17 | g.39872301G>T | CA399279351 | ZPBP2 | c.438G>T (p.Met146Ile) c.372G>T (p.Met124Ile) c.84G>T (p.Met28Ile) c.406+676G>T (n.406+676G>T) n.629G>T | |
17 | g.39872302G>A | CA399279353 | ZPBP2 | c.439G>A (p.Ala147Thr) c.373G>A (p.Ala125Thr) c.85G>A (p.Ala29Thr) c.406+677G>A (n.406+677G>A) n.630G>A | |
17 | g.39872302G>C | CA399279356 | ZPBP2 | c.439G>C (p.Ala147Pro) c.373G>C (p.Ala125Pro) c.85G>C (p.Ala29Pro) c.406+677G>C (n.406+677G>C) n.630G>C | |
17 | g.39872302G>T | CA399279359 | ZPBP2 | c.439G>T (p.Ala147Ser) c.373G>T (p.Ala125Ser) c.85G>T (p.Ala29Ser) c.406+677G>T (n.406+677G>T) n.630G>T | |
17 | g.39872303C>A | CA399279361 | ZPBP2 | c.440C>A (p.Ala147Asp) c.374C>A (p.Ala125Asp) c.86C>A (p.Ala29Asp) c.406+678C>A (n.406+678C>A) n.631C>A | gnomAD v4 |
17 | g.39872303C= | CA2259290852 | ZPBP2 | c.440C= (p.Ala147=) c.374C= (p.Ala125=) c.86C= (p.Ala29=) c.406+678C= (n.406+678C=) n.631C= | |
17 | g.39872303C>G | CA399279363 | ZPBP2 | c.440C>G (p.Ala147Gly) c.374C>G (p.Ala125Gly) c.86C>G (p.Ala29Gly) c.406+678C>G (n.406+678C>G) n.631C>G | |
17 | g.39872303C>T | CA399279365 | ZPBP2 | c.440C>T (p.Ala147Val) c.374C>T (p.Ala125Val) c.86C>T (p.Ala29Val) c.406+678C>T (n.406+678C>T) n.631C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39872304T>A | CA499931604 | ZPBP2 | c.441T>A (p.Ala147=) c.375T>A (p.Ala125=) c.87T>A (p.Ala29=) c.406+679T>A (n.406+679T>A) n.632T>A | |
17 | g.39872304T>C | CA499931605 | ZPBP2 | c.441T>C (p.Ala147=) c.375T>C (p.Ala125=) c.87T>C (p.Ala29=) c.406+679T>C (n.406+679T>C) n.632T>C | |
17 | g.39872304T>G | CA499931606 | ZPBP2 | c.441T>G (p.Ala147=) c.375T>G (p.Ala125=) c.87T>G (p.Ala29=) c.406+679T>G (n.406+679T>G) n.632T>G | |
17 | g.39872305G>A | CA399279372 | ZPBP2 | c.442G>A (p.Val148Ile) c.376G>A (p.Val126Ile) c.88G>A (p.Val30Ile) c.406+680G>A (n.406+680G>A) n.633G>A | dbSNP gnomAD v2 gnomAD v4 |
17 | g.39872305G>C | CA399279370 | ZPBP2 | c.442G>C (p.Val148Leu) c.376G>C (p.Val126Leu) c.88G>C (p.Val30Leu) c.406+680G>C (n.406+680G>C) n.633G>C | |
17 | g.39872305G= | CA2259290853 | ZPBP2 | c.442G= (p.Val148=) c.376G= (p.Val126=) c.88G= (p.Val30=) c.406+680G= (n.406+680G=) n.633G= | |
17 | g.39872305G>T | CA399279369 | ZPBP2 | c.442G>T (p.Val148Leu) c.376G>T (p.Val126Leu) c.88G>T (p.Val30Leu) c.406+680G>T (n.406+680G>T) n.633G>T | dbSNP gnomAD v2 gnomAD v4 |
17 | g.39872306T>A | CA399279376 | ZPBP2 | c.443T>A (p.Val148Glu) c.377T>A (p.Val126Glu) c.89T>A (p.Val30Glu) c.406+681T>A (n.406+681T>A) n.634T>A | |
17 | g.39872306T>C | CA399279378 | ZPBP2 | c.443T>C (p.Val148Ala) c.377T>C (p.Val126Ala) c.89T>C (p.Val30Ala) c.406+681T>C (n.406+681T>C) n.634T>C | |
17 | g.39872306T>G | CA399279380 | ZPBP2 | c.443T>G (p.Val148Gly) c.377T>G (p.Val126Gly) c.89T>G (p.Val30Gly) c.406+681T>G (n.406+681T>G) n.634T>G | |
17 | g.39872307A>C | CA499931607 | ZPBP2 | c.444A>C (p.Val148=) c.378A>C (p.Val126=) c.90A>C (p.Val30=) c.406+682A>C (n.406+682A>C) n.635A>C | |
17 | g.39872307A>G | CA499931609 | ZPBP2 | c.444A>G (p.Val148=) c.378A>G (p.Val126=) c.90A>G (p.Val30=) c.406+682A>G (n.406+682A>G) n.635A>G | |
17 | g.39872307A>T | CA499931608 | ZPBP2 | c.444A>T (p.Val148=) c.378A>T (p.Val126=) c.90A>T (p.Val30=) c.406+682A>T (n.406+682A>T) n.635A>T | |
17 | g.39872308C>A | CA399279383 | ZPBP2 | c.445C>A (p.Arg149Ser) c.379C>A (p.Arg127Ser) c.91C>A (p.Arg31Ser) c.406+683C>A (n.406+683C>A) n.636C>A | |
17 | g.39872308C= | CA2259290854 | ZPBP2 | c.445C= (p.Arg149=) c.379C= (p.Arg127=) c.91C= (p.Arg31=) c.406+683C= (n.406+683C=) n.636C= | |
17 | g.39872308C>G | CA399279384 | ZPBP2 | c.445C>G (p.Arg149Gly) c.379C>G (p.Arg127Gly) c.91C>G (p.Arg31Gly) c.406+683C>G (n.406+683C>G) n.636C>G | |
17 | g.39872308C>T | CA8535961 | ZPBP2 | c.445C>T (p.Arg149Cys) c.379C>T (p.Arg127Cys) c.91C>T (p.Arg31Cys) c.406+683C>T (n.406+683C>T) n.636C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39872309G>A | CA8535962 | ZPBP2 | c.446G>A (p.Arg149His) c.380G>A (p.Arg127His) c.92G>A (p.Arg31His) c.406+684G>A (n.406+684G>A) n.637G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39872309G>C | CA399279390 | ZPBP2 | c.446G>C (p.Arg149Pro) c.380G>C (p.Arg127Pro) c.92G>C (p.Arg31Pro) c.406+684G>C (n.406+684G>C) n.637G>C | |
17 | g.39872309G= | CA2259290855 | ZPBP2 | c.446G= (p.Arg149=) c.380G= (p.Arg127=) c.92G= (p.Arg31=) c.406+684G= (n.406+684G=) n.637G= | |
17 | g.39872309G>T | CA399279392 | ZPBP2 | c.446G>T (p.Arg149Leu) c.380G>T (p.Arg127Leu) c.92G>T (p.Arg31Leu) c.406+684G>T (n.406+684G>T) n.637G>T | |
17 | g.39872310T>A | CA499931610 | ZPBP2 | c.447T>A (p.Arg149=) c.381T>A (p.Arg127=) c.93T>A (p.Arg31=) c.406+685T>A (n.406+685T>A) n.638T>A | |
17 | g.39872310T>C | CA499931611 | ZPBP2 | c.447T>C (p.Arg149=) c.381T>C (p.Arg127=) c.93T>C (p.Arg31=) c.406+685T>C (n.406+685T>C) n.638T>C | |
17 | g.39872310T>G | CA499931612 | ZPBP2 | c.447T>G (p.Arg149=) c.381T>G (p.Arg127=) c.93T>G (p.Arg31=) c.406+685T>G (n.406+685T>G) n.638T>G | |
17 | g.39872311T>A | CA399279397 | ZPBP2 | c.448T>A (p.Phe150Ile) c.382T>A (p.Phe128Ile) c.94T>A (p.Phe32Ile) c.406+686T>A (n.406+686T>A) n.639T>A | |
17 | g.39872311T>C | CA399279399 | ZPBP2 | c.448T>C (p.Phe150Leu) c.382T>C (p.Phe128Leu) c.94T>C (p.Phe32Leu) c.406+686T>C (n.406+686T>C) n.639T>C | |
17 | g.39872311T>G | CA399279402 | ZPBP2 | c.448T>G (p.Phe150Val) c.382T>G (p.Phe128Val) c.94T>G (p.Phe32Val) c.406+686T>G (n.406+686T>G) n.639T>G | |
17 | g.39872312T>A | CA399279415 | ZPBP2 | c.449T>A (p.Phe150Tyr) c.383T>A (p.Phe128Tyr) c.95T>A (p.Phe32Tyr) c.406+687T>A (n.406+687T>A) n.640T>A | |
17 | g.39872312T>C | CA399279406 | ZPBP2 | c.449T>C (p.Phe150Ser) c.383T>C (p.Phe128Ser) c.95T>C (p.Phe32Ser) c.406+687T>C (n.406+687T>C) n.640T>C | |
17 | g.39872312T>G | CA399279412 | ZPBP2 | c.449T>G (p.Phe150Cys) c.383T>G (p.Phe128Cys) c.95T>G (p.Phe32Cys) c.406+687T>G (n.406+687T>G) n.640T>G | |
17 | g.39872313T>A | CA399279418 | ZPBP2 | c.450T>A (p.Phe150Leu) c.384T>A (p.Phe128Leu) c.96T>A (p.Phe32Leu) c.406+688T>A (n.406+688T>A) n.641T>A | |
17 | g.39872313T>C | CA499931613 | ZPBP2 | c.450T>C (p.Phe150=) c.384T>C (p.Phe128=) c.96T>C (p.Phe32=) c.406+688T>C (n.406+688T>C) n.641T>C | |
17 | g.39872313T>G | CA399279419 | ZPBP2 | c.450T>G (p.Phe150Leu) c.384T>G (p.Phe128Leu) c.96T>G (p.Phe32Leu) c.406+688T>G (n.406+688T>G) n.641T>G | COSMIC |
17 | g.39872313_39872316delinsTACC | CA2259290856 | ZPBP2 | c.450_453delinsTACC (p.Phe150=) c.384_387delinsTACC (p.Phe128=) c.96_99delinsTACC (p.Phe32=) c.406+688_406+691delinsTACC (n.406+688_406+691delinsTACC) n.641_644delinsTACC | |
17 | g.39872314A>C | CA399279422 | ZPBP2 | c.451A>C (p.Thr151Pro) c.385A>C (p.Thr129Pro) c.97A>C (p.Thr33Pro) c.406+689A>C (n.406+689A>C) n.642A>C | |
17 | g.39872314A>G | CA399279423 | ZPBP2 | c.451A>G (p.Thr151Ala) c.385A>G (p.Thr129Ala) c.97A>G (p.Thr33Ala) c.406+689A>G (n.406+689A>G) n.642A>G | |
17 | g.39872314A>T | CA399279425 | ZPBP2 | c.451A>T (p.Thr151Ser) c.385A>T (p.Thr129Ser) c.97A>T (p.Thr33Ser) c.406+689A>T (n.406+689A>T) n.642A>T | |
17 | g.39872316_39872318del | CA625946506 | ZPBP2 | c.453_455del (p.Thr152del) c.387_389del (p.Thr130del) c.99_101del (p.Thr34del) c.406+691_406+693del (n.406+691_406+693del) n.644_646del | dbSNP gnomAD v2 gnomAD v4 |
17 | g.39872315C>A | CA399279426 | ZPBP2 | c.452C>A (p.Thr151Asn) c.386C>A (p.Thr129Asn) c.98C>A (p.Thr33Asn) c.406+690C>A (n.406+690C>A) n.643C>A | |
17 | g.39872315C>G | CA399279429 | ZPBP2 | c.452C>G (p.Thr151Ser) c.386C>G (p.Thr129Ser) c.98C>G (p.Thr33Ser) c.406+690C>G (n.406+690C>G) n.643C>G | |
17 | g.39872315C>T | CA399279432 | ZPBP2 | c.452C>T (p.Thr151Ile) c.386C>T (p.Thr129Ile) c.98C>T (p.Thr33Ile) c.406+690C>T (n.406+690C>T) n.643C>T | |
17 | g.39872316C>A | CA499931614 | ZPBP2 | c.453C>A (p.Thr151=) c.387C>A (p.Thr129=) c.99C>A (p.Thr33=) c.406+691C>A (n.406+691C>A) n.644C>A | |
17 | g.39872316C>G | CA499931615 | ZPBP2 | c.453C>G (p.Thr151=) c.387C>G (p.Thr129=) c.99C>G (p.Thr33=) c.406+691C>G (n.406+691C>G) n.644C>G | |
17 | g.39872316C>T | CA499931616 | ZPBP2 | c.453C>T (p.Thr151=) c.387C>T (p.Thr129=) c.99C>T (p.Thr33=) c.406+691C>T (n.406+691C>T) n.644C>T | |
17 | g.39872317A>C | CA399279435 | ZPBP2 | c.454A>C (p.Thr152Pro) c.388A>C (p.Thr130Pro) c.100A>C (p.Thr34Pro) c.406+692A>C (n.406+692A>C) n.645A>C | |
17 | g.39872317A>G | CA399279437 | ZPBP2 | c.454A>G (p.Thr152Ala) c.388A>G (p.Thr130Ala) c.100A>G (p.Thr34Ala) c.406+692A>G (n.406+692A>G) n.645A>G | |
17 | g.39872317A>T | CA399279439 | ZPBP2 | c.454A>T (p.Thr152Ser) c.388A>T (p.Thr130Ser) c.100A>T (p.Thr34Ser) c.406+692A>T (n.406+692A>T) n.645A>T | |
17 | g.39872318C>A | CA399279447 | ZPBP2 | c.455C>A (p.Thr152Lys) c.389C>A (p.Thr130Lys) c.101C>A (p.Thr34Lys) c.406+693C>A (n.406+693C>A) n.646C>A | |
17 | g.39872318C= | CA2259290857 | ZPBP2 | c.455C= (p.Thr152=) c.389C= (p.Thr130=) c.101C= (p.Thr34=) c.406+693C= (n.406+693C=) n.646C= | |
17 | g.39872318C>G | CA399279444 | ZPBP2 | c.455C>G (p.Thr152Arg) c.389C>G (p.Thr130Arg) c.101C>G (p.Thr34Arg) c.406+693C>G (n.406+693C>G) n.646C>G | |
17 | g.39872318C>T | CA8535963 | ZPBP2 | c.455C>T (p.Thr152Ile) c.389C>T (p.Thr130Ile) c.101C>T (p.Thr34Ile) c.406+693C>T (n.406+693C>T) n.646C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.39872319A= | CA2259290858 | ZPBP2 | c.456A= (p.Thr152=) c.390A= (p.Thr130=) c.102A= (p.Thr34=) c.406+694A= (n.406+694A=) n.647A= | |
17 | g.39872319A>C | CA499931617 | ZPBP2 | c.456A>C (p.Thr152=) c.390A>C (p.Thr130=) c.102A>C (p.Thr34=) c.406+694A>C (n.406+694A>C) n.647A>C | |
17 | g.39872319A>G | CA499931618 | ZPBP2 | c.456A>G (p.Thr152=) c.390A>G (p.Thr130=) c.102A>G (p.Thr34=) c.406+694A>G (n.406+694A>G) n.647A>G | dbSNP |
17 | g.39872319A>T | CA499931619 | ZPBP2 | c.456A>T (p.Thr152=) c.390A>T (p.Thr130=) c.102A>T (p.Thr34=) c.406+694A>T (n.406+694A>T) n.647A>T | |
17 | g.39872320A>C | CA499931620 | ZPBP2 | c.457A>C (p.Arg153=) c.391A>C (p.Arg131=) c.103A>C (p.Arg35=) c.406+695A>C (n.406+695A>C) n.648A>C | |
17 | g.39872320A>G | CA399279450 | ZPBP2 | c.457A>G (p.Arg153Gly) c.391A>G (p.Arg131Gly) c.103A>G (p.Arg35Gly) c.406+695A>G (n.406+695A>G) n.648A>G | |
17 | g.39872320A>T | CA399279452 | ZPBP2 | c.457A>T (p.Arg153Trp) c.391A>T (p.Arg131Trp) c.103A>T (p.Arg35Trp) c.406+695A>T (n.406+695A>T) n.648A>T | |
17 | g.39872321G>A | CA399279454 | ZPBP2 | c.458G>A (p.Arg153Lys) c.392G>A (p.Arg131Lys) c.104G>A (p.Arg35Lys) c.406+696G>A (n.406+696G>A) n.649G>A | dbSNP |
17 | g.39872321G>C | CA399279457 | ZPBP2 | c.458G>C (p.Arg153Thr) c.392G>C (p.Arg131Thr) c.104G>C (p.Arg35Thr) c.406+696G>C (n.406+696G>C) n.649G>C | |
17 | g.39872321G>T | CA399279459 | ZPBP2 | c.458G>T (p.Arg153Met) c.392G>T (p.Arg131Met) c.104G>T (p.Arg35Met) c.406+696G>T (n.406+696G>T) n.649G>T | |
17 | g.39872322G>A | CA8535964 | ZPBP2 | c.459G>A (p.Arg153=) c.393G>A (p.Arg131=) c.105G>A (p.Arg35=) c.406+697G>A (n.406+697G>A) n.650G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39872322G>C | CA399279465 | ZPBP2 | c.459G>C (p.Arg153Ser) c.393G>C (p.Arg131Ser) c.105G>C (p.Arg35Ser) c.406+697G>C (n.406+697G>C) n.650G>C | gnomAD v4 |
17 | g.39872322G= | CA2259290859 | ZPBP2 | c.459G= (p.Arg153=) c.393G= (p.Arg131=) c.105G= (p.Arg35=) c.406+697G= (n.406+697G=) n.650G= | |
17 | g.39872322G>T | CA399279462 | ZPBP2 | c.459G>T (p.Arg153Ser) c.393G>T (p.Arg131Ser) c.105G>T (p.Arg35Ser) c.406+697G>T (n.406+697G>T) n.650G>T | |
17 | g.39872323T>A | CA399279469 | ZPBP2 | c.460T>A (p.Ser154Thr) c.394T>A (p.Ser132Thr) c.106T>A (p.Ser36Thr) c.406+698T>A (n.406+698T>A) n.651T>A | |
17 | g.39872323T>C | CA399279472 | ZPBP2 | c.460T>C (p.Ser154Pro) c.394T>C (p.Ser132Pro) c.106T>C (p.Ser36Pro) c.406+698T>C (n.406+698T>C) n.651T>C | |
17 | g.39872323T>G | CA399279475 | ZPBP2 | c.460T>G (p.Ser154Ala) c.394T>G (p.Ser132Ala) c.106T>G (p.Ser36Ala) c.406+698T>G (n.406+698T>G) n.651T>G | |
17 | g.39872324C>A | CA399279476 | ZPBP2 | c.461C>A (p.Ser154Tyr) c.395C>A (p.Ser132Tyr) c.107C>A (p.Ser36Tyr) c.406+699C>A (n.406+699C>A) n.652C>A | |
17 | g.39872324C>G | CA399279478 | ZPBP2 | c.461C>G (p.Ser154Cys) c.395C>G (p.Ser132Cys) c.107C>G (p.Ser36Cys) c.406+699C>G (n.406+699C>G) n.652C>G | |
17 | g.39872324C>T | CA399279479 | ZPBP2 | c.461C>T (p.Ser154Phe) c.395C>T (p.Ser132Phe) c.107C>T (p.Ser36Phe) c.406+699C>T (n.406+699C>T) n.652C>T | |
17 | g.39872325T>A | CA499931621 | ZPBP2 | c.462T>A (p.Ser154=) c.396T>A (p.Ser132=) c.108T>A (p.Ser36=) c.406+700T>A (n.406+700T>A) n.653T>A | |
17 | g.39872325T>C | CA290455814 | ZPBP2 | c.462T>C (p.Ser154=) c.396T>C (p.Ser132=) c.108T>C (p.Ser36=) c.406+700T>C (n.406+700T>C) n.653T>C | dbSNP |
17 | g.39872325T>G | CA499931622 | ZPBP2 | c.462T>G (p.Ser154=) c.396T>G (p.Ser132=) c.108T>G (p.Ser36=) c.406+700T>G (n.406+700T>G) n.653T>G | |
17 | g.39872325T= | CA2259290860 | ZPBP2 | c.462T= (p.Ser154=) c.396T= (p.Ser132=) c.108T= (p.Ser36=) c.406+700T= (n.406+700T=) n.653T= | |
17 | g.39872326T>A | CA399279487 | ZPBP2 | c.463T>A (p.Cys155Ser) c.397T>A (p.Cys133Ser) c.109T>A (p.Cys37Ser) c.406+701T>A (n.406+701T>A) n.654T>A | |
17 | g.39872326T>C | CA399279482 | ZPBP2 | c.463T>C (p.Cys155Arg) c.397T>C (p.Cys133Arg) c.109T>C (p.Cys37Arg) c.406+701T>C (n.406+701T>C) n.654T>C | |
17 | g.39872326T>G | CA399279485 | ZPBP2 | c.463T>G (p.Cys155Gly) c.397T>G (p.Cys133Gly) c.109T>G (p.Cys37Gly) c.406+701T>G (n.406+701T>G) n.654T>G | |
17 | g.39872326T= | CA2259290861 | ZPBP2 | c.463T= (p.Cys155=) c.397T= (p.Cys133=) c.109T= (p.Cys37=) c.406+701T= (n.406+701T=) n.654T= | |
17 | g.39872327G>A | CA8535965 | ZPBP2 | c.464G>A (p.Cys155Tyr) c.398G>A (p.Cys133Tyr) c.110G>A (p.Cys37Tyr) c.406+702G>A (n.406+702G>A) n.655G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.39872327G>C | CA399279491 | ZPBP2 | c.464G>C (p.Cys155Ser) c.398G>C (p.Cys133Ser) c.110G>C (p.Cys37Ser) c.406+702G>C (n.406+702G>C) n.655G>C | |
17 | g.39872327G= | CA2259290862 | ZPBP2 | c.464G= (p.Cys155=) c.398G= (p.Cys133=) c.110G= (p.Cys37=) c.406+702G= (n.406+702G=) n.655G= | |
17 | g.39872327G>T | CA399279494 | ZPBP2 | c.464G>T (p.Cys155Phe) c.398G>T (p.Cys133Phe) c.110G>T (p.Cys37Phe) c.406+702G>T (n.406+702G>T) n.655G>T | |
17 | g.39872327dup | CA625946507 | ZPBP2 | c.464dup (p.Cys155TrpfsTer7) c.398dup (p.Cys133TrpfsTer7) c.110dup (p.Cys37TrpfsTer7) c.406+702dup (n.406+702dup) n.655dup | dbSNP gnomAD v2 gnomAD v4 |
17 | g.39872328T>A | CA399279495 | ZPBP2 | c.465T>A (p.Cys155Ter) c.399T>A (p.Cys133Ter) c.111T>A (p.Cys37Ter) c.406+703T>A (n.406+703T>A) n.656T>A | |
17 | g.39872328T>C | CA499931623 | ZPBP2 | c.465T>C (p.Cys155=) c.399T>C (p.Cys133=) c.111T>C (p.Cys37=) c.406+703T>C (n.406+703T>C) n.656T>C | |
17 | g.39872328T>G | CA399279496 | ZPBP2 | c.465T>G (p.Cys155Trp) c.399T>G (p.Cys133Trp) c.111T>G (p.Cys37Trp) c.406+703T>G (n.406+703T>G) n.656T>G | |
17 | g.39872329A>C | CA399279500 | ZPBP2 | c.466A>C (p.Ile156Leu) c.400A>C (p.Ile134Leu) c.112A>C (p.Ile38Leu) c.406+704A>C (n.406+704A>C) n.657A>C | |
17 | g.39872329A>G | CA399279503 | ZPBP2 | c.466A>G (p.Ile156Val) c.400A>G (p.Ile134Val) c.112A>G (p.Ile38Val) c.406+704A>G (n.406+704A>G) n.657A>G | |
17 | g.39872329A>T | CA399279506 | ZPBP2 | c.466A>T (p.Ile156Leu) c.400A>T (p.Ile134Leu) c.112A>T (p.Ile38Leu) c.406+704A>T (n.406+704A>T) n.657A>T | |
17 | g.39872330T>A | CA399279507 | ZPBP2 | c.467T>A (p.Ile156Lys) c.401T>A (p.Ile134Lys) c.113T>A (p.Ile38Lys) c.406+705T>A (n.406+705T>A) n.658T>A | |
17 | g.39872330T>C | CA399279510 | ZPBP2 | c.467T>C (p.Ile156Thr) c.401T>C (p.Ile134Thr) c.113T>C (p.Ile38Thr) c.406+705T>C (n.406+705T>C) n.658T>C | |
17 | g.39872330T>G | CA399279512 | ZPBP2 | c.467T>G (p.Ile156Arg) c.401T>G (p.Ile134Arg) c.113T>G (p.Ile38Arg) c.406+705T>G (n.406+705T>G) n.658T>G | |
17 | g.39872331A>C | CA499931624 | ZPBP2 | c.468A>C (p.Ile156=) c.402A>C (p.Ile134=) c.114A>C (p.Ile38=) c.406+706A>C (n.406+706A>C) n.659A>C | |
17 | g.39872331A>G | CA399279513 | ZPBP2 | c.468A>G (p.Ile156Met) c.402A>G (p.Ile134Met) c.114A>G (p.Ile38Met) c.406+706A>G (n.406+706A>G) n.659A>G | |
17 | g.39872331A>T | CA499931625 | ZPBP2 | c.468A>T (p.Ile156=) c.402A>T (p.Ile134=) c.114A>T (p.Ile38=) c.406+706A>T (n.406+706A>T) n.659A>T | |
17 | g.39872332G>A | CA399279516 | ZPBP2 | c.469G>A (p.Gly157Arg) c.403G>A (p.Gly135Arg) c.115G>A (p.Gly39Arg) c.406+707G>A (n.406+707G>A) n.660G>A | |
17 | g.39872332G>C | CA399279521 | ZPBP2 | c.469G>C (p.Gly157Arg) c.403G>C (p.Gly135Arg) c.115G>C (p.Gly39Arg) c.406+707G>C (n.406+707G>C) n.660G>C | |
17 | g.39872332G>T | CA399279519 | ZPBP2 | c.469G>T (p.Gly157Trp) c.403G>T (p.Gly135Trp) c.115G>T (p.Gly39Trp) c.406+707G>T (n.406+707G>T) n.660G>T | |
17 | g.39872333G>A | CA399279524 | ZPBP2 | c.470G>A (p.Gly157Glu) c.404G>A (p.Gly135Glu) c.116G>A (p.Gly39Glu) c.406+708G>A (n.406+708G>A) n.661G>A | |
17 | g.39872333G>C | CA399279527 | ZPBP2 | c.470G>C (p.Gly157Ala) c.404G>C (p.Gly135Ala) c.116G>C (p.Gly39Ala) c.406+708G>C (n.406+708G>C) n.661G>C | |
17 | g.39872333G>T | CA399279529 | ZPBP2 | c.470G>T (p.Gly157Val) c.404G>T (p.Gly135Val) c.116G>T (p.Gly39Val) c.406+708G>T (n.406+708G>T) n.661G>T | |
17 | g.39872334G>A | CA499931626 | ZPBP2 | c.471G>A (p.Gly157=) c.405G>A (p.Gly135=) c.117G>A (p.Gly39=) c.407-710G>A (n.407-710G>A) n.662G>A | |
17 | g.39872334G>C | CA499931627 | ZPBP2 | c.471G>C (p.Gly157=) c.405G>C (p.Gly135=) c.117G>C (p.Gly39=) c.407-710G>C (n.407-710G>C) n.662G>C | dbSNP |
17 | g.39872334G= | CA2259290863 | ZPBP2 | c.471G= (p.Gly157=) c.405G= (p.Gly135=) c.117G= (p.Gly39=) c.407-710G= (n.407-710G=) n.662G= | |
17 | g.39872334G>T | CA499931628 | ZPBP2 | c.471G>T (p.Gly157=) c.405G>T (p.Gly135=) c.117G>T (p.Gly39=) c.407-710G>T (n.407-710G>T) n.662G>T | |
17 | g.39872335A>C | CA499931629 | ZPBP2 | c.472A>C (p.Arg158=) c.406A>C (p.Arg136=) c.118A>C (p.Arg40=) c.407-709A>C (n.407-709A>C) n.663A>C | |
17 | g.39872335A>G | CA399279532 | ZPBP2 | c.472A>G (p.Arg158Gly) c.406A>G (p.Arg136Gly) c.118A>G (p.Arg40Gly) c.407-709A>G (n.407-709A>G) n.663A>G | gnomAD v3 gnomAD v4 |
17 | g.39872335A>T | CA399279535 | ZPBP2 | c.472A>T (p.Arg158Ter) c.406A>T (p.Arg136Ter) c.118A>T (p.Arg40Ter) c.407-709A>T (n.407-709A>T) n.663A>T | |
17 | g.39872336G>A | CA399279538 | ZPBP2 | c.473G>A (p.Arg158Lys) c.407G>A (p.Arg136Lys) c.119G>A (p.Arg40Lys) c.407-708G>A (n.407-708G>A) n.664G>A | |
17 | g.39872336G>C | CA399279541 | ZPBP2 | c.473G>C (p.Arg158Thr) c.407G>C (p.Arg136Thr) c.119G>C (p.Arg40Thr) c.407-708G>C (n.407-708G>C) n.664G>C | |
17 | g.39872336G>T | CA399279543 | ZPBP2 | c.473G>T (p.Arg158Ile) c.407G>T (p.Arg136Ile) c.119G>T (p.Arg40Ile) c.407-708G>T (n.407-708G>T) n.664G>T | |
17 | g.39872337A>C | CA399279546 | ZPBP2 | c.474A>C (p.Arg158Ser) c.408A>C (p.Arg136Ser) c.120A>C (p.Arg40Ser) c.407-707A>C (n.407-707A>C) n.665A>C | |
17 | g.39872337A>G | CA499931630 | ZPBP2 | c.474A>G (p.Arg158=) c.408A>G (p.Arg136=) c.120A>G (p.Arg40=) c.407-707A>G (n.407-707A>G) n.665A>G | |
17 | g.39872337A>T | CA399279550 | ZPBP2 | c.474A>T (p.Arg158Ser) c.408A>T (p.Arg136Ser) c.120A>T (p.Arg40Ser) c.407-707A>T (n.407-707A>T) n.665A>T | |
17 | g.39872338T>A | CA399279553 | ZPBP2 | c.475T>A (p.Tyr159Asn) c.409T>A (p.Tyr137Asn) c.121T>A (p.Tyr41Asn) c.407-706T>A (n.407-706T>A) n.666T>A | |
17 | g.39872338T>C | CA399279556 | ZPBP2 | c.475T>C (p.Tyr159His) c.409T>C (p.Tyr137His) c.121T>C (p.Tyr41His) c.407-706T>C (n.407-706T>C) n.666T>C | gnomAD v4 |
17 | g.39872338T>G | CA399279558 | ZPBP2 | c.475T>G (p.Tyr159Asp) c.409T>G (p.Tyr137Asp) c.121T>G (p.Tyr41Asp) c.407-706T>G (n.407-706T>G) n.666T>G | |
17 | g.39872339A>C | CA399279559 | ZPBP2 | c.476A>C (p.Tyr159Ser) c.410A>C (p.Tyr137Ser) c.122A>C (p.Tyr41Ser) c.407-705A>C (n.407-705A>C) n.667A>C | gnomAD v4 |
17 | g.39872339A>G | CA399279563 | ZPBP2 | c.476A>G (p.Tyr159Cys) c.410A>G (p.Tyr137Cys) c.122A>G (p.Tyr41Cys) c.407-705A>G (n.407-705A>G) n.667A>G | |
17 | g.39872339A>T | CA399279560 | ZPBP2 | c.476A>T (p.Tyr159Phe) c.410A>T (p.Tyr137Phe) c.122A>T (p.Tyr41Phe) c.407-705A>T (n.407-705A>T) n.667A>T | COSMIC |
17 | g.39872339_39872340delinsAC | CA2259290864 | ZPBP2 | c.476_477delinsAC (p.Tyr159=) c.410_411delinsAC (p.Tyr137=) c.122_123delinsAC (p.Tyr41=) c.407-705_407-704delinsAC (n.407-705_407-704delinsAC) n.667_668delinsAC | |
17 | g.39872340del | CA2259290865 | ZPBP2 | c.477del (p.Tyr159Ter) c.411del (p.Tyr137Ter) c.123del (p.Tyr41Ter) c.407-704del (n.407-704del) n.668del | dbSNP gnomAD v4 |
17 | g.39872340C>A | CA399279565 | ZPBP2 | c.477C>A (p.Tyr159Ter) c.411C>A (p.Tyr137Ter) c.123C>A (p.Tyr41Ter) c.407-704C>A (n.407-704C>A) n.668C>A | gnomAD v4 |
17 | g.39872340C= | CA2259290866 | ZPBP2 | c.477C= (p.Tyr159=) c.411C= (p.Tyr137=) c.123C= (p.Tyr41=) c.407-704C= (n.407-704C=) n.668C= | |
17 | g.39872340C>G | CA399279568 | ZPBP2 | c.477C>G (p.Tyr159Ter) c.411C>G (p.Tyr137Ter) c.123C>G (p.Tyr41Ter) c.407-704C>G (n.407-704C>G) n.668C>G | |
17 | g.39872340C>T | CA499931631 | ZPBP2 | c.477C>T (p.Tyr159=) c.411C>T (p.Tyr137=) c.123C>T (p.Tyr41=) c.407-704C>T (n.407-704C>T) n.668C>T | dbSNP gnomAD v4 |
17 | g.39872341A= | CA2259290867 | ZPBP2 | c.478A= (p.Asn160=) c.412A= (p.Asn138=) c.124A= (p.Asn42=) c.407-703A= (n.407-703A=) n.669A= | |
17 | g.39872341A>C | CA399279570 | ZPBP2 | c.478A>C (p.Asn160His) c.412A>C (p.Asn138His) c.124A>C (p.Asn42His) c.407-703A>C (n.407-703A>C) n.669A>C | |
17 | g.39872341A>G | CA399279573 | ZPBP2 | c.478A>G (p.Asn160Asp) c.412A>G (p.Asn138Asp) c.124A>G (p.Asn42Asp) c.407-703A>G (n.407-703A>G) n.669A>G | dbSNP gnomAD v4 |
17 | g.39872341A>T | CA399279576 | ZPBP2 | c.478A>T (p.Asn160Tyr) c.412A>T (p.Asn138Tyr) c.124A>T (p.Asn42Tyr) c.407-703A>T (n.407-703A>T) n.669A>T | |
17 | g.39872342A>C | CA399279580 | ZPBP2 | c.479A>C (p.Asn160Thr) c.413A>C (p.Asn138Thr) c.125A>C (p.Asn42Thr) c.407-702A>C (n.407-702A>C) n.670A>C | |
17 | g.39872342A>G | CA399279581 | ZPBP2 | c.479A>G (p.Asn160Ser) c.413A>G (p.Asn138Ser) c.125A>G (p.Asn42Ser) c.407-702A>G (n.407-702A>G) n.670A>G | |
17 | g.39872342A>T | CA399279584 | ZPBP2 | c.479A>T (p.Asn160Ile) c.413A>T (p.Asn138Ile) c.125A>T (p.Asn42Ile) c.407-702A>T (n.407-702A>T) n.670A>T | |
17 | g.39872343T>A | CA399279586 | ZPBP2 | c.480T>A (p.Asn160Lys) c.414T>A (p.Asn138Lys) c.126T>A (p.Asn42Lys) c.407-701T>A (n.407-701T>A) n.671T>A | |
17 | g.39872343T>C | CA499931632 | ZPBP2 | c.480T>C (p.Asn160=) c.414T>C (p.Asn138=) c.126T>C (p.Asn42=) c.407-701T>C (n.407-701T>C) n.671T>C | |
17 | g.39872343T>G | CA399279589 | ZPBP2 | c.480T>G (p.Asn160Lys) c.414T>G (p.Asn138Lys) c.126T>G (p.Asn42Lys) c.407-701T>G (n.407-701T>G) n.671T>G | |
17 | g.39872344G>A | CA399279594 | ZPBP2 | c.481G>A (p.Asp161Asn) c.415G>A (p.Asp139Asn) c.127G>A (p.Asp43Asn) c.407-700G>A (n.407-700G>A) n.672G>A | |
17 | g.39872344G>C | CA399279598 | ZPBP2 | c.481G>C (p.Asp161His) c.415G>C (p.Asp139His) c.127G>C (p.Asp43His) c.407-700G>C (n.407-700G>C) n.672G>C | |
17 | g.39872344G>T | CA399279592 | ZPBP2 | c.481G>T (p.Asp161Tyr) c.415G>T (p.Asp139Tyr) c.127G>T (p.Asp43Tyr) c.407-700G>T (n.407-700G>T) n.672G>T | |
17 | g.39872345A= | CA2259290868 | ZPBP2 | c.482A= (p.Asp161=) c.416A= (p.Asp139=) c.128A= (p.Asp43=) c.407-699A= (n.407-699A=) n.673A= | |
17 | g.39872345A>C | CA399279602 | ZPBP2 | c.482A>C (p.Asp161Ala) c.416A>C (p.Asp139Ala) c.128A>C (p.Asp43Ala) c.407-699A>C (n.407-699A>C) n.673A>C | |
17 | g.39872345A>G | CA8535966 | ZPBP2 | c.482A>G (p.Asp161Gly) c.416A>G (p.Asp139Gly) c.128A>G (p.Asp43Gly) c.407-699A>G (n.407-699A>G) n.673A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39872345A>T | CA399279604 | ZPBP2 | c.482A>T (p.Asp161Val) c.416A>T (p.Asp139Val) c.128A>T (p.Asp43Val) c.407-699A>T (n.407-699A>T) n.673A>T | |
17 | g.39872346T>A | CA399279605 | ZPBP2 | c.483T>A (p.Asp161Glu) c.417T>A (p.Asp139Glu) c.129T>A (p.Asp43Glu) c.407-698T>A (n.407-698T>A) n.674T>A | |
17 | g.39872346T>C | CA499931633 | ZPBP2 | c.483T>C (p.Asp161=) c.417T>C (p.Asp139=) c.129T>C (p.Asp43=) c.407-698T>C (n.407-698T>C) n.674T>C | gnomAD v4 |
17 | g.39872346T>G | CA399279607 | ZPBP2 | c.483T>G (p.Asp161Glu) c.417T>G (p.Asp139Glu) c.129T>G (p.Asp43Glu) c.407-698T>G (n.407-698T>G) n.674T>G | |
17 | g.39872347G>A | CA399279609 | ZPBP2 | c.484G>A (p.Val162Ile) c.418G>A (p.Val140Ile) c.130G>A (p.Val44Ile) c.407-697G>A (n.407-697G>A) n.675G>A | gnomAD v4 |
17 | g.39872347G>C | CA399279610 | ZPBP2 | c.484G>C (p.Val162Leu) c.418G>C (p.Val140Leu) c.130G>C (p.Val44Leu) c.407-697G>C (n.407-697G>C) n.675G>C | |
17 | g.39872347G>T | CA399279612 | ZPBP2 | c.484G>T (p.Val162Leu) c.418G>T (p.Val140Leu) c.130G>T (p.Val44Leu) c.407-697G>T (n.407-697G>T) n.675G>T | |
17 | g.39872348T>A | CA399279613 | ZPBP2 | c.485T>A (p.Val162Glu) c.419T>A (p.Val140Glu) c.131T>A (p.Val44Glu) c.407-696T>A (n.407-696T>A) n.676T>A | |
17 | g.39872348T>C | CA399279614 | ZPBP2 | c.485T>C (p.Val162Ala) c.419T>C (p.Val140Ala) c.131T>C (p.Val44Ala) c.407-696T>C (n.407-696T>C) n.676T>C | |
17 | g.39872348T>G | CA399279615 | ZPBP2 | c.485T>G (p.Val162Gly) c.419T>G (p.Val140Gly) c.131T>G (p.Val44Gly) c.407-696T>G (n.407-696T>G) n.676T>G | |
17 | g.39872349A>C | CA499931701 | ZPBP2 | c.486A>C (p.Val162=) c.420A>C (p.Val140=) c.132A>C (p.Val44=) c.407-695A>C (n.407-695A>C) n.677A>C | |
17 | g.39872349A>G | CA499931703 | ZPBP2 | c.486A>G (p.Val162=) c.420A>G (p.Val140=) c.132A>G (p.Val44=) c.407-695A>G (n.407-695A>G) n.677A>G | |
17 | g.39872349A>T | CA499931702 | ZPBP2 | c.486A>T (p.Val162=) c.420A>T (p.Val140=) c.132A>T (p.Val44=) c.407-695A>T (n.407-695A>T) n.677A>T | |
17 | g.39872350T>A | CA399279617 | ZPBP2 | c.487T>A (p.Phe163Ile) c.421T>A (p.Phe141Ile) c.133T>A (p.Phe45Ile) c.407-694T>A (n.407-694T>A) n.678T>A | |
17 | g.39872350T>C | CA399279619 | ZPBP2 | c.487T>C (p.Phe163Leu) c.421T>C (p.Phe141Leu) c.133T>C (p.Phe45Leu) c.407-694T>C (n.407-694T>C) n.678T>C | |
17 | g.39872350T>G | CA399279620 | ZPBP2 | c.487T>G (p.Phe163Val) c.421T>G (p.Phe141Val) c.133T>G (p.Phe45Val) c.407-694T>G (n.407-694T>G) n.678T>G | gnomAD v4 |
17 | g.39872351T>A | CA399279622 | ZPBP2 | c.488T>A (p.Phe163Tyr) c.422T>A (p.Phe141Tyr) c.134T>A (p.Phe45Tyr) c.407-693T>A (n.407-693T>A) n.679T>A | |
17 | g.39872351T>C | CA399279624 | ZPBP2 | c.488T>C (p.Phe163Ser) c.422T>C (p.Phe141Ser) c.134T>C (p.Phe45Ser) c.407-693T>C (n.407-693T>C) n.679T>C | |
17 | g.39872351T>G | CA399279625 | ZPBP2 | c.488T>G (p.Phe163Cys) c.422T>G (p.Phe141Cys) c.134T>G (p.Phe45Cys) c.407-693T>G (n.407-693T>G) n.679T>G | |
17 | g.39872352C>A | CA399279627 | ZPBP2 | c.489C>A (p.Phe163Leu) c.423C>A (p.Phe141Leu) c.135C>A (p.Phe45Leu) c.407-692C>A (n.407-692C>A) n.680C>A | |
17 | g.39872352C>G | CA399279628 | ZPBP2 | c.489C>G (p.Phe163Leu) c.423C>G (p.Phe141Leu) c.135C>G (p.Phe45Leu) c.407-692C>G (n.407-692C>G) n.680C>G | |
17 | g.39872352C>T | CA499931707 | ZPBP2 | c.489C>T (p.Phe163=) c.423C>T (p.Phe141=) c.135C>T (p.Phe45=) c.407-692C>T (n.407-692C>T) n.680C>T | |
17 | g.39872353T>A | CA399279634 | ZPBP2 | c.490T>A (p.Phe164Ile) c.424T>A (p.Phe142Ile) c.136T>A (p.Phe46Ile) c.407-691T>A (n.407-691T>A) n.681T>A | |
17 | g.39872353T>C | CA399279635 | ZPBP2 | c.490T>C (p.Phe164Leu) c.424T>C (p.Phe142Leu) c.136T>C (p.Phe46Leu) c.407-691T>C (n.407-691T>C) n.681T>C | dbSNP gnomAD v3 gnomAD v4 |
17 | g.39872353T>G | CA399279636 | ZPBP2 | c.490T>G (p.Phe164Val) c.424T>G (p.Phe142Val) c.136T>G (p.Phe46Val) c.407-691T>G (n.407-691T>G) n.681T>G | |
17 | g.39872353T= | CA2259290869 | ZPBP2 | c.490T= (p.Phe164=) c.424T= (p.Phe142=) c.136T= (p.Phe46=) c.407-691T= (n.407-691T=) n.681T= | |
17 | g.39872354T>A | CA399279639 | ZPBP2 | c.491T>A (p.Phe164Tyr) c.425T>A (p.Phe142Tyr) c.137T>A (p.Phe46Tyr) c.407-690T>A (n.407-690T>A) n.682T>A | dbSNP |
17 | g.39872354T>C | CA399279643 | ZPBP2 | c.491T>C (p.Phe164Ser) c.425T>C (p.Phe142Ser) c.137T>C (p.Phe46Ser) c.407-690T>C (n.407-690T>C) n.682T>C | |
17 | g.39872354T>G | CA399279644 | ZPBP2 | c.491T>G (p.Phe164Cys) c.425T>G (p.Phe142Cys) c.137T>G (p.Phe46Cys) c.407-690T>G (n.407-690T>G) n.682T>G | |
17 | g.39872354T= | CA2259290870 | ZPBP2 | c.491T= (p.Phe164=) c.425T= (p.Phe142=) c.137T= (p.Phe46=) c.407-690T= (n.407-690T=) n.682T= | |
17 | g.39872355T>A | CA399279646 | ZPBP2 | c.492T>A (p.Phe164Leu) c.426T>A (p.Phe142Leu) c.138T>A (p.Phe46Leu) c.407-689T>A (n.407-689T>A) n.683T>A | |
17 | g.39872355T>C | CA8535967 | ZPBP2 | c.492T>C (p.Phe164=) c.426T>C (p.Phe142=) c.138T>C (p.Phe46=) c.407-689T>C (n.407-689T>C) n.683T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39872355T>G | CA399279650 | ZPBP2 | c.492T>G (p.Phe164Leu) c.426T>G (p.Phe142Leu) c.138T>G (p.Phe46Leu) c.407-689T>G (n.407-689T>G) n.683T>G | |
17 | g.39872355T= | CA2259290871 | ZPBP2 | c.492T= (p.Phe164=) c.426T= (p.Phe142=) c.138T= (p.Phe46=) c.407-689T= (n.407-689T=) n.683T= | |
17 | g.39872356A>C | CA499931708 | ZPBP2 | c.493A>C (p.Arg165=) c.427A>C (p.Arg143=) c.139A>C (p.Arg47=) c.407-688A>C (n.407-688A>C) n.684A>C | |
17 | g.39872356A>G | CA399279652 | ZPBP2 | c.493A>G (p.Arg165Gly) c.427A>G (p.Arg143Gly) c.139A>G (p.Arg47Gly) c.407-688A>G (n.407-688A>G) n.684A>G | |
17 | g.39872356A>T | CA399279653 | ZPBP2 | c.493A>T (p.Arg165Ter) c.427A>T (p.Arg143Ter) c.139A>T (p.Arg47Ter) c.407-688A>T (n.407-688A>T) n.684A>T | |
17 | g.39872357G>A | CA399279656 | ZPBP2 | c.494G>A (p.Arg165Lys) c.428G>A (p.Arg143Lys) c.140G>A (p.Arg47Lys) c.407-687G>A (n.407-687G>A) n.685G>A | |
17 | g.39872357G>C | CA399279655 | ZPBP2 | c.494G>C (p.Arg165Thr) c.428G>C (p.Arg143Thr) c.140G>C (p.Arg47Thr) c.407-687G>C (n.407-687G>C) n.685G>C | dbSNP gnomAD v3 gnomAD v4 COSMIC |
17 | g.39872357G= | CA2259290872 | ZPBP2 | c.494G= (p.Arg165=) c.428G= (p.Arg143=) c.140G= (p.Arg47=) c.407-687G= (n.407-687G=) n.685G= | |
17 | g.39872357G>T | CA399279654 | ZPBP2 | c.494G>T (p.Arg165Ile) c.428G>T (p.Arg143Ile) c.140G>T (p.Arg47Ile) c.407-687G>T (n.407-687G>T) n.685G>T | |
17 | g.39872358A>C | CA399279657 | ZPBP2 | c.495A>C (p.Arg165Ser) c.429A>C (p.Arg143Ser) c.141A>C (p.Arg47Ser) c.407-686A>C (n.407-686A>C) n.686A>C | |
17 | g.39872358A>G | CA499931709 | ZPBP2 | c.495A>G (p.Arg165=) c.429A>G (p.Arg143=) c.141A>G (p.Arg47=) c.407-686A>G (n.407-686A>G) n.686A>G | |
17 | g.39872358A>T | CA399279658 | ZPBP2 | c.495A>T (p.Arg165Ser) c.429A>T (p.Arg143Ser) c.141A>T (p.Arg47Ser) c.407-686A>T (n.407-686A>T) n.686A>T | |
17 | g.39872359G>A | CA399279659 | ZPBP2 | c.496G>A (p.Val166Met) c.430G>A (p.Val144Met) c.142G>A (p.Val48Met) c.407-685G>A (n.407-685G>A) n.687G>A | |
17 | g.39872359G>C | CA399279660 | ZPBP2 | c.496G>C (p.Val166Leu) c.430G>C (p.Val144Leu) c.142G>C (p.Val48Leu) c.407-685G>C (n.407-685G>C) n.687G>C | |
17 | g.39872359G>T | CA399279661 | ZPBP2 | c.496G>T (p.Val166Leu) c.430G>T (p.Val144Leu) c.142G>T (p.Val48Leu) c.407-685G>T (n.407-685G>T) n.687G>T | |
17 | g.39872360T>A | CA399279663 | ZPBP2 | c.497T>A (p.Val166Glu) c.431T>A (p.Val144Glu) c.143T>A (p.Val48Glu) c.407-684T>A (n.407-684T>A) n.688T>A | |
17 | g.39872360T>C | CA399279662 | ZPBP2 | c.497T>C (p.Val166Ala) c.431T>C (p.Val144Ala) c.143T>C (p.Val48Ala) c.407-684T>C (n.407-684T>C) n.688T>C | |
17 | g.39872360T>G | CA8535968 | ZPBP2 | c.497T>G (p.Val166Gly) c.431T>G (p.Val144Gly) c.143T>G (p.Val48Gly) c.407-684T>G (n.407-684T>G) n.688T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39872360T= | CA2259290873 | ZPBP2 | c.497T= (p.Val166=) c.431T= (p.Val144=) c.143T= (p.Val48=) c.407-684T= (n.407-684T=) n.688T= | |
17 | g.39872361G>A | CA8535969 | ZPBP2 | c.498G>A (p.Val166=) c.432G>A (p.Val144=) c.144G>A (p.Val48=) c.407-683G>A (n.407-683G>A) n.689G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.39872361G>C | CA499931711 | ZPBP2 | c.498G>C (p.Val166=) c.432G>C (p.Val144=) c.144G>C (p.Val48=) c.407-683G>C (n.407-683G>C) n.689G>C | |
17 | g.39872361G= | CA2259290874 | ZPBP2 | c.498G= (p.Val166=) c.432G= (p.Val144=) c.144G= (p.Val48=) c.407-683G= (n.407-683G=) n.689G= | |
17 | g.39872361G>T | CA499931712 | ZPBP2 | c.498G>T (p.Val166=) c.432G>T (p.Val144=) c.144G>T (p.Val48=) c.407-683G>T (n.407-683G>T) n.689G>T | dbSNP |
17 | g.39872362C>A | CA399279666 | ZPBP2 | c.499C>A (p.Leu167Met) c.433C>A (p.Leu145Met) c.145C>A (p.Leu49Met) c.407-682C>A (n.407-682C>A) n.690C>A | |
17 | g.39872362C>G | CA399279669 | ZPBP2 | c.499C>G (p.Leu167Val) c.433C>G (p.Leu145Val) c.145C>G (p.Leu49Val) c.407-682C>G (n.407-682C>G) n.690C>G | |
17 | g.39872362C>T | CA499931713 | ZPBP2 | c.499C>T (p.Leu167=) c.433C>T (p.Leu145=) c.145C>T (p.Leu49=) c.407-682C>T (n.407-682C>T) n.690C>T | |
17 | g.39872363T>A | CA399279671 | ZPBP2 | c.500T>A (p.Leu167Gln) c.434T>A (p.Leu145Gln) c.146T>A (p.Leu49Gln) c.407-681T>A (n.407-681T>A) n.691T>A | |
17 | g.39872363T>C | CA399279674 | ZPBP2 | c.500T>C (p.Leu167Pro) c.434T>C (p.Leu145Pro) c.146T>C (p.Leu49Pro) c.407-681T>C (n.407-681T>C) n.691T>C | |
17 | g.39872363T>G | CA399279676 | ZPBP2 | c.500T>G (p.Leu167Arg) c.434T>G (p.Leu145Arg) c.146T>G (p.Leu49Arg) c.407-681T>G (n.407-681T>G) n.691T>G | dbSNP |
17 | g.39872364G>A | CA499931714 | ZPBP2 | c.501G>A (p.Leu167=) c.435G>A (p.Leu145=) c.147G>A (p.Leu49=) c.407-680G>A (n.407-680G>A) n.692G>A | dbSNP gnomAD v4 |
17 | g.39872364G>C | CA499931715 | ZPBP2 | c.501G>C (p.Leu167=) c.435G>C (p.Leu145=) c.147G>C (p.Leu49=) c.407-680G>C (n.407-680G>C) n.692G>C | |
17 | g.39872364G= | CA2259290875 | ZPBP2 | c.501G= (p.Leu167=) c.435G= (p.Leu145=) c.147G= (p.Leu49=) c.407-680G= (n.407-680G=) n.692G= | |
17 | g.39872364G>T | CA499931716 | ZPBP2 | c.501G>T (p.Leu167=) c.435G>T (p.Leu145=) c.147G>T (p.Leu49=) c.407-680G>T (n.407-680G>T) n.692G>T | |
17 | g.39872365A>C | CA399279677 | ZPBP2 | c.502A>C (p.Lys168Gln) c.436A>C (p.Lys146Gln) c.148A>C (p.Lys50Gln) c.407-679A>C (n.407-679A>C) n.693A>C | |
17 | g.39872365A>G | CA399279679 | ZPBP2 | c.502A>G (p.Lys168Glu) c.436A>G (p.Lys146Glu) c.148A>G (p.Lys50Glu) c.407-679A>G (n.407-679A>G) n.693A>G | |
17 | g.39872365A>T | CA399279678 | ZPBP2 | c.502A>T (p.Lys168Ter) c.436A>T (p.Lys146Ter) c.148A>T (p.Lys50Ter) c.407-679A>T (n.407-679A>T) n.693A>T | |
17 | g.39872366A= | CA2259290876 | ZPBP2 | c.503A= (p.Lys168=) c.437A= (p.Lys146=) c.149A= (p.Lys50=) c.407-678A= (n.407-678A=) n.694A= | |
17 | g.39872366A>C | CA399279680 | ZPBP2 | c.503A>C (p.Lys168Thr) c.437A>C (p.Lys146Thr) c.149A>C (p.Lys50Thr) c.407-678A>C (n.407-678A>C) n.694A>C | dbSNP gnomAD v3 gnomAD v4 |
17 | g.39872366A>G | CA399279681 | ZPBP2 | c.503A>G (p.Lys168Arg) c.437A>G (p.Lys146Arg) c.149A>G (p.Lys50Arg) c.407-678A>G (n.407-678A>G) n.694A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39872366A>T | CA399279683 | ZPBP2 | c.503A>T (p.Lys168Met) c.437A>T (p.Lys146Met) c.149A>T (p.Lys50Met) c.407-678A>T (n.407-678A>T) n.694A>T | |
17 | g.39872367G>A | CA499931717 | ZPBP2 | c.504G>A (p.Lys168=) c.438G>A (p.Lys146=) c.150G>A (p.Lys50=) c.407-677G>A (n.407-677G>A) n.695G>A | |
17 | g.39872367G>C | CA399279684 | ZPBP2 | c.504G>C (p.Lys168Asn) c.438G>C (p.Lys146Asn) c.150G>C (p.Lys50Asn) c.407-677G>C (n.407-677G>C) n.695G>C | |
17 | g.39872367G>T | CA399279686 | ZPBP2 | c.504G>T (p.Lys168Asn) c.438G>T (p.Lys146Asn) c.150G>T (p.Lys50Asn) c.407-677G>T (n.407-677G>T) n.695G>T | |
17 | g.39872368A>C | CA399279689 | ZPBP2 | c.505A>C (p.Lys169Gln) c.439A>C (p.Lys147Gln) c.151A>C (p.Lys51Gln) c.407-676A>C (n.407-676A>C) n.696A>C | gnomAD v4 |
17 | g.39872368A>G | CA399279693 | ZPBP2 | c.505A>G (p.Lys169Glu) c.439A>G (p.Lys147Glu) c.151A>G (p.Lys51Glu) c.407-676A>G (n.407-676A>G) n.696A>G | |
17 | g.39872368A>T | CA399279700 | ZPBP2 | c.505A>T (p.Lys169Ter) c.439A>T (p.Lys147Ter) c.151A>T (p.Lys51Ter) c.407-676A>T (n.407-676A>T) n.696A>T | |
17 | g.39872369A>C | CA399279704 | ZPBP2 | c.506A>C (p.Lys169Thr) c.440A>C (p.Lys147Thr) c.152A>C (p.Lys51Thr) c.407-675A>C (n.407-675A>C) n.697A>C | |
17 | g.39872369A>G | CA399279705 | ZPBP2 | c.506A>G (p.Lys169Arg) c.440A>G (p.Lys147Arg) c.152A>G (p.Lys51Arg) c.407-675A>G (n.407-675A>G) n.697A>G | |
17 | g.39872369A>T | CA399279706 | ZPBP2 | c.506A>T (p.Lys169Ile) c.440A>T (p.Lys147Ile) c.152A>T (p.Lys51Ile) c.407-675A>T (n.407-675A>T) n.697A>T | |
17 | g.39872370A>C | CA399279707 | ZPBP2 | c.507A>C (p.Lys169Asn) c.441A>C (p.Lys147Asn) c.153A>C (p.Lys51Asn) c.407-674A>C (n.407-674A>C) n.698A>C | |
17 | g.39872370A>G | CA499931718 | ZPBP2 | c.507A>G (p.Lys169=) c.441A>G (p.Lys147=) c.153A>G (p.Lys51=) c.407-674A>G (n.407-674A>G) n.698A>G | |
17 | g.39872370A>T | CA399279708 | ZPBP2 | c.507A>T (p.Lys169Asn) c.441A>T (p.Lys147Asn) c.153A>T (p.Lys51Asn) c.407-674A>T (n.407-674A>T) n.698A>T | |
17 | g.39872371A= | CA2259290877 | ZPBP2 | c.508A= (p.Ile170=) c.442A= (p.Ile148=) c.154A= (p.Ile52=) c.407-673A= (n.407-673A=) n.699A= | |
17 | g.39872371A>C | CA399279710 | ZPBP2 | c.508A>C (p.Ile170Leu) c.442A>C (p.Ile148Leu) c.154A>C (p.Ile52Leu) c.407-673A>C (n.407-673A>C) n.699A>C | |
17 | g.39872371A>G | CA399279718 | ZPBP2 | c.508A>G (p.Ile170Val) c.442A>G (p.Ile148Val) c.154A>G (p.Ile52Val) c.407-673A>G (n.407-673A>G) n.699A>G | dbSNP gnomAD v4 |
17 | g.39872371A>T | CA399279715 | ZPBP2 | c.508A>T (p.Ile170Phe) c.442A>T (p.Ile148Phe) c.154A>T (p.Ile52Phe) c.407-673A>T (n.407-673A>T) n.699A>T | |
17 | g.39872372T>A | CA399279719 | ZPBP2 | c.509T>A (p.Ile170Asn) c.443T>A (p.Ile148Asn) c.155T>A (p.Ile52Asn) c.407-672T>A (n.407-672T>A) n.700T>A | |
17 | g.39872372T>C | CA399279721 | ZPBP2 | c.509T>C (p.Ile170Thr) c.443T>C (p.Ile148Thr) c.155T>C (p.Ile52Thr) c.407-672T>C (n.407-672T>C) n.700T>C | |
17 | g.39872372T>G | CA399279723 | ZPBP2 | c.509T>G (p.Ile170Ser) c.443T>G (p.Ile148Ser) c.155T>G (p.Ile52Ser) c.407-672T>G (n.407-672T>G) n.700T>G | |
17 | g.39872373C>A | CA499931720 | ZPBP2 | c.510C>A (p.Ile170=) c.444C>A (p.Ile148=) c.156C>A (p.Ile52=) c.407-671C>A (n.407-671C>A) n.701C>A | |
17 | g.39872373C>G | CA399279726 | ZPBP2 | c.510C>G (p.Ile170Met) c.444C>G (p.Ile148Met) c.156C>G (p.Ile52Met) c.407-671C>G (n.407-671C>G) n.701C>G | |
17 | g.39872373C>T | CA499931719 | ZPBP2 | c.510C>T (p.Ile170=) c.444C>T (p.Ile148=) c.156C>T (p.Ile52=) c.407-671C>T (n.407-671C>T) n.701C>T | |
17 | g.39872374T>A | CA399279731 | ZPBP2 | c.511T>A (p.Leu171Met) c.445T>A (p.Leu149Met) c.157T>A (p.Leu53Met) c.407-670T>A (n.407-670T>A) n.702T>A | |
17 | g.39872374T>C | CA499931721 | ZPBP2 | c.511T>C (p.Leu171=) c.445T>C (p.Leu149=) c.157T>C (p.Leu53=) c.407-670T>C (n.407-670T>C) n.702T>C | |
17 | g.39872374T>G | CA399279733 | ZPBP2 | c.511T>G (p.Leu171Val) c.445T>G (p.Leu149Val) c.157T>G (p.Leu53Val) c.407-670T>G (n.407-670T>G) n.702T>G | gnomAD v4 |
17 | g.39872375T>A | CA399279736 | ZPBP2 | c.512T>A (p.Leu171Ter) c.446T>A (p.Leu149Ter) c.158T>A (p.Leu53Ter) c.407-669T>A (n.407-669T>A) n.703T>A | |
17 | g.39872375T>C | CA399279737 | ZPBP2 | c.512T>C (p.Leu171Ser) c.446T>C (p.Leu149Ser) c.158T>C (p.Leu53Ser) c.407-669T>C (n.407-669T>C) n.703T>C | |
17 | g.39872375T>G | CA399279743 | ZPBP2 | c.512T>G (p.Leu171Trp) c.446T>G (p.Leu149Trp) c.158T>G (p.Leu53Trp) c.407-669T>G (n.407-669T>G) n.703T>G | gnomAD v4 |
17 | g.39872376G>A | CA499931722 | ZPBP2 | c.513G>A (p.Leu171=) c.447G>A (p.Leu149=) c.159G>A (p.Leu53=) c.407-668G>A (n.407-668G>A) n.704G>A | |
17 | g.39872376G>C | CA399279746 | ZPBP2 | c.513G>C (p.Leu171Phe) c.447G>C (p.Leu149Phe) c.159G>C (p.Leu53Phe) c.407-668G>C (n.407-668G>C) n.704G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39872376G= | CA2259290878 | ZPBP2 | c.513G= (p.Leu171=) c.447G= (p.Leu149=) c.159G= (p.Leu53=) c.407-668G= (n.407-668G=) n.704G= | |
17 | g.39872376G>T | CA399279747 | ZPBP2 | c.513G>T (p.Leu171Phe) c.447G>T (p.Leu149Phe) c.159G>T (p.Leu53Phe) c.407-668G>T (n.407-668G>T) n.704G>T | |
17 | g.39872377G>A | CA399279752 | ZPBP2 | c.514G>A (p.Asp172Asn) c.448G>A (p.Asp150Asn) c.160G>A (p.Asp54Asn) c.407-667G>A (n.407-667G>A) n.705G>A | dbSNP gnomAD v3 gnomAD v4 |
17 | g.39872377G>C | CA399279751 | ZPBP2 | c.514G>C (p.Asp172His) c.448G>C (p.Asp150His) c.160G>C (p.Asp54His) c.407-667G>C (n.407-667G>C) n.705G>C | |
17 | g.39872377G= | CA2259290879 | ZPBP2 | c.514G= (p.Asp172=) c.448G= (p.Asp150=) c.160G= (p.Asp54=) c.407-667G= (n.407-667G=) n.705G= | |
17 | g.39872377G>T | CA399279748 | ZPBP2 | c.514G>T (p.Asp172Tyr) c.448G>T (p.Asp150Tyr) c.160G>T (p.Asp54Tyr) c.407-667G>T (n.407-667G>T) n.705G>T | |
17 | g.39872378A>C | CA399279755 | ZPBP2 | c.515A>C (p.Asp172Ala) c.449A>C (p.Asp150Ala) c.161A>C (p.Asp54Ala) c.407-666A>C (n.407-666A>C) n.706A>C | |
17 | g.39872378A>G | CA399279756 | ZPBP2 | c.515A>G (p.Asp172Gly) c.449A>G (p.Asp150Gly) c.161A>G (p.Asp54Gly) c.407-666A>G (n.407-666A>G) n.706A>G | |
17 | g.39872378A>T | CA399279757 | ZPBP2 | c.515A>T (p.Asp172Val) c.449A>T (p.Asp150Val) c.161A>T (p.Asp54Val) c.407-666A>T (n.407-666A>T) n.706A>T | |
17 | g.39872379T>A | CA399279758 | ZPBP2 | c.516T>A (p.Asp172Glu) c.450T>A (p.Asp150Glu) c.162T>A (p.Asp54Glu) c.407-665T>A (n.407-665T>A) n.707T>A | |
17 | g.39872379T>C | CA499931723 | ZPBP2 | c.516T>C (p.Asp172=) c.450T>C (p.Asp150=) c.162T>C (p.Asp54=) c.407-665T>C (n.407-665T>C) n.707T>C | |
17 | g.39872379T>G | CA399279759 | ZPBP2 | c.516T>G (p.Asp172Glu) c.450T>G (p.Asp150Glu) c.162T>G (p.Asp54Glu) c.407-665T>G (n.407-665T>G) n.707T>G | |
17 | g.39872379_39872380delinsTA | CA2259290880 | ZPBP2 | c.516_517delinsTA (p.Asp172=) c.450_451delinsTA (p.Asp150=) c.162_163delinsTA (p.Asp54=) c.407-665_407-664delinsTA (n.407-665_407-664delinsTA) n.707_708delinsTA | |
17 | g.39872380del | CA290455842 | ZPBP2 | c.517del (p.Ser173ValfsTer2) c.451del (p.Ser151ValfsTer2) c.163del (p.Ser55ValfsTer2) c.407-664del (n.407-664del) n.708del | dbSNP gnomAD v4 |
17 | g.39872380A= | CA2259290882 | ZPBP2 | c.517A= (p.Ser173=) c.451A= (p.Ser151=) c.163A= (p.Ser55=) c.407-664A= (n.407-664A=) n.708A= | |
17 | g.39872380A>C | CA399279763 | ZPBP2 | c.517A>C (p.Ser173Arg) c.451A>C (p.Ser151Arg) c.163A>C (p.Ser55Arg) c.407-664A>C (n.407-664A>C) n.708A>C | dbSNP gnomAD v4 |
17 | g.39872380A>G | CA399279764 | ZPBP2 | c.517A>G (p.Ser173Gly) c.451A>G (p.Ser151Gly) c.163A>G (p.Ser55Gly) c.407-664A>G (n.407-664A>G) n.708A>G | |
17 | g.39872380A>T | CA399279766 | ZPBP2 | c.517A>T (p.Ser173Cys) c.451A>T (p.Ser151Cys) c.163A>T (p.Ser55Cys) c.407-664A>T (n.407-664A>T) n.708A>T | |
17 | g.39872380_39872381delinsAG | CA2259290881 | ZPBP2 | c.517_518delinsAG (p.Ser173=) c.451_452delinsAG (p.Ser151=) c.163_164delinsAG (p.Ser55=) c.407-664_407-663delinsAG (n.407-664_407-663delinsAG) n.708_709delinsAG | |
17 | g.39872381del | CA771906275 | ZPBP2 | c.518del (p.Ser173IlefsTer2) c.452del (p.Ser151IlefsTer2) c.164del (p.Ser55IlefsTer2) c.407-663del (n.407-663del) n.709del | dbSNP |
17 | g.39872381G>A | CA399279772 | ZPBP2 | c.518G>A (p.Ser173Asn) c.452G>A (p.Ser151Asn) c.164G>A (p.Ser55Asn) c.407-663G>A (n.407-663G>A) n.709G>A | |
17 | g.39872381G>C | CA399279773 | ZPBP2 | c.518G>C (p.Ser173Thr) c.452G>C (p.Ser151Thr) c.164G>C (p.Ser55Thr) c.407-663G>C (n.407-663G>C) n.709G>C | |
17 | g.39872381G= | CA2259290883 | ZPBP2 | c.518G= (p.Ser173=) c.452G= (p.Ser151=) c.164G= (p.Ser55=) c.407-663G= (n.407-663G=) n.709G= | |
17 | g.39872381G>T | CA8535970 | ZPBP2 | c.518G>T (p.Ser173Ile) c.452G>T (p.Ser151Ile) c.164G>T (p.Ser55Ile) c.407-663G>T (n.407-663G>T) n.709G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39872381_39872382delinsGT | CA2259290884 | ZPBP2 | c.518_519delinsGT (p.Ser173=) c.452_453delinsGT (p.Ser151=) c.164_165delinsGT (p.Ser55=) c.407-663_407-662delinsGT (n.407-663_407-662delinsGT) n.709_710delinsGT | |
17 | g.39872381_39872382delinsTC | CA290455854 | ZPBP2 | c.518_519delinsTC (p.Ser173Ile) c.452_453delinsTC (p.Ser151Ile) c.164_165delinsTC (p.Ser55Ile) c.407-663_407-662delinsTC (n.407-663_407-662delinsTC) n.709_710delinsTC | dbSNP |
17 | g.39872382T>A | CA399279778 | ZPBP2 | c.519T>A (p.Ser173Arg) c.453T>A (p.Ser151Arg) c.165T>A (p.Ser55Arg) c.407-662T>A (n.407-662T>A) n.710T>A | |
17 | g.39872382T>C | CA8535971 | ZPBP2 | c.519T>C (p.Ser173=) c.453T>C (p.Ser151=) c.165T>C (p.Ser55=) c.407-662T>C (n.407-662T>C) n.710T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39872382T>G | CA399279776 | ZPBP2 | c.519T>G (p.Ser173Arg) c.453T>G (p.Ser151Arg) c.165T>G (p.Ser55Arg) c.407-662T>G (n.407-662T>G) n.710T>G | |
17 | g.39872382T= | CA2259290885 | ZPBP2 | c.519T= (p.Ser173=) c.453T= (p.Ser151=) c.165T= (p.Ser55=) c.407-662T= (n.407-662T=) n.710T= | |
17 | g.39872383C>A | CA399279783 | ZPBP2 | c.520C>A (p.Leu174Ile) c.454C>A (p.Leu152Ile) c.166C>A (p.Leu56Ile) c.407-661C>A (n.407-661C>A) n.711C>A | gnomAD v4 |
17 | g.39872383C= | CA2259290886 | ZPBP2 | c.520C= (p.Leu174=) c.454C= (p.Leu152=) c.166C= (p.Leu56=) c.407-661C= (n.407-661C=) n.711C= | |
17 | g.39872383C>G | CA399279784 | ZPBP2 | c.520C>G (p.Leu174Val) c.454C>G (p.Leu152Val) c.166C>G (p.Leu56Val) c.407-661C>G (n.407-661C>G) n.711C>G | |
17 | g.39872383C>T | CA8535972 | ZPBP2 | c.520C>T (p.Leu174=) c.454C>T (p.Leu152=) c.166C>T (p.Leu56=) c.407-661C>T (n.407-661C>T) n.711C>T | dbSNP ExAC gnomAD v2 |
17 | g.39872384T>A | CA399279788 | ZPBP2 | c.521T>A (p.Leu174Gln) c.455T>A (p.Leu152Gln) c.167T>A (p.Leu56Gln) c.407-660T>A (n.407-660T>A) n.712T>A | |
17 | g.39872384T>C | CA399279789 | ZPBP2 | c.521T>C (p.Leu174Pro) c.455T>C (p.Leu152Pro) c.167T>C (p.Leu56Pro) c.407-660T>C (n.407-660T>C) n.712T>C | |
17 | g.39872384T>G | CA399279792 | ZPBP2 | c.521T>G (p.Leu174Arg) c.455T>G (p.Leu152Arg) c.167T>G (p.Leu56Arg) c.407-660T>G (n.407-660T>G) n.712T>G | gnomAD v4 |
17 | g.39872384dup | CA8535973 | ZPBP2 | c.521dup (p.Ile175AsnfsTer3) c.455dup (p.Ile153AsnfsTer3) c.167dup (p.Ile57AsnfsTer3) c.407-660dup (n.407-660dup) n.712dup | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39872385A= | CA2259290887 | ZPBP2 | c.522A= (p.Leu174=) c.456A= (p.Leu152=) c.168A= (p.Leu56=) c.407-659A= (n.407-659A=) n.713A= | |
17 | g.39872385A>C | CA290455880 | ZPBP2 | c.522A>C (p.Leu174=) c.456A>C (p.Leu152=) c.168A>C (p.Leu56=) c.407-659A>C (n.407-659A>C) n.713A>C | dbSNP gnomAD v4 |
17 | g.39872385A>G | CA499931724 | ZPBP2 | c.522A>G (p.Leu174=) c.456A>G (p.Leu152=) c.168A>G (p.Leu56=) c.407-659A>G (n.407-659A>G) n.713A>G | |
17 | g.39872385A>T | CA499931725 | ZPBP2 | c.522A>T (p.Leu174=) c.456A>T (p.Leu152=) c.168A>T (p.Leu56=) c.407-659A>T (n.407-659A>T) n.713A>T | |
17 | g.39872386A= | CA2259290888 | ZPBP2 | c.523A= (p.Ile175=) c.457A= (p.Ile153=) c.169A= (p.Ile57=) c.407-658A= (n.407-658A=) n.714A= | |
17 | g.39872386A>C | CA8535974 | ZPBP2 | c.523A>C (p.Ile175Leu) c.457A>C (p.Ile153Leu) c.169A>C (p.Ile57Leu) c.407-658A>C (n.407-658A>C) n.714A>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39872386A>G | CA399279794 | ZPBP2 | c.523A>G (p.Ile175Val) c.457A>G (p.Ile153Val) c.169A>G (p.Ile57Val) c.407-658A>G (n.407-658A>G) n.714A>G | |
17 | g.39872386A>T | CA399279796 | ZPBP2 | c.523A>T (p.Ile175Phe) c.457A>T (p.Ile153Phe) c.169A>T (p.Ile57Phe) c.407-658A>T (n.407-658A>T) n.714A>T | |
17 | g.39872386_39872387delinsAT | CA2259290889 | ZPBP2 | c.523_524delinsAT (p.Ile175=) c.457_458delinsAT (p.Ile153=) c.169_170delinsAT (p.Ile57=) c.407-658_407-657delinsAT (n.407-658_407-657delinsAT) n.714_715delinsAT | |
17 | g.39872387T>A | CA399279799 | ZPBP2 | c.524T>A (p.Ile175Asn) c.458T>A (p.Ile153Asn) c.170T>A (p.Ile57Asn) c.407-657T>A (n.407-657T>A) n.715T>A | |
17 | g.39872387T>C | CA399279802 | ZPBP2 | c.524T>C (p.Ile175Thr) c.458T>C (p.Ile153Thr) c.170T>C (p.Ile57Thr) c.407-657T>C (n.407-657T>C) n.715T>C | |
17 | g.39872387T>G | CA399279803 | ZPBP2 | c.524T>G (p.Ile175Ser) c.458T>G (p.Ile153Ser) c.170T>G (p.Ile57Ser) c.407-657T>G (n.407-657T>G) n.715T>G | |
17 | g.39872389del | CA8535975 | ZPBP2 | c.526del (p.Ser176LeufsTer8) c.460del (p.Ser154LeufsTer8) c.172del (p.Ser58LeufsTer8) c.407-655del (n.407-655del) n.717del | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.39872388T>A | CA499931726 | ZPBP2 | c.525T>A (p.Ile175=) c.459T>A (p.Ile153=) c.171T>A (p.Ile57=) c.407-656T>A (n.407-656T>A) n.716T>A | |
17 | g.39872388T>C | CA499931727 | ZPBP2 | c.525T>C (p.Ile175=) c.459T>C (p.Ile153=) c.171T>C (p.Ile57=) c.407-656T>C (n.407-656T>C) n.716T>C | |
17 | g.39872388T>G | CA399279807 | ZPBP2 | c.525T>G (p.Ile175Met) c.459T>G (p.Ile153Met) c.171T>G (p.Ile57Met) c.407-656T>G (n.407-656T>G) n.716T>G | |
17 | g.39872389T>A | CA399279809 | ZPBP2 | c.526T>A (p.Ser176Thr) c.460T>A (p.Ser154Thr) c.172T>A (p.Ser58Thr) c.407-655T>A (n.407-655T>A) n.717T>A | |
17 | g.39872389T>C | CA399279810 | ZPBP2 | c.526T>C (p.Ser176Pro) c.460T>C (p.Ser154Pro) c.172T>C (p.Ser58Pro) c.407-655T>C (n.407-655T>C) n.717T>C | gnomAD v4 |
17 | g.39872389T>G | CA399279811 | ZPBP2 | c.526T>G (p.Ser176Ala) c.460T>G (p.Ser154Ala) c.172T>G (p.Ser58Ala) c.407-655T>G (n.407-655T>G) n.717T>G |