Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.39872284G>ACA399279232ZPBP2c.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
17g.39872284G>CCA399279235ZPBP2c.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
17g.39872284G=CA2259290843ZPBP2c.421G= (p.Asp141=)
c.355G= (p.Asp119=)
c.67G= (p.Asp23=)
c.406+659G= (n.406+659G=)
n.612G=
17g.39872284G>TCA399279236ZPBP2c.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
17g.39872285A=CA2259290844ZPBP2c.422A= (p.Asp141=)
c.356A= (p.Asp119=)
c.68A= (p.Asp23=)
c.406+660A= (n.406+660A=)
n.613A=
17g.39872285A>CCA399279239ZPBP2c.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
17g.39872285A>GCA399279242ZPBP2c.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
17g.39872285A>TCA399279243ZPBP2c.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
17g.39872286T>ACA399279249ZPBP2c.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
17g.39872286T>CCA499931593ZPBP2c.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
17g.39872286T>GCA399279251ZPBP2c.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
17g.39872287T>ACA399279253ZPBP2c.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
17g.39872287T>CCA399279255ZPBP2c.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
17g.39872287T>GCA399279257ZPBP2c.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
17g.39872288A=CA2259290845ZPBP2c.425A= (p.Tyr142=)
c.359A= (p.Tyr120=)
c.71A= (p.Tyr24=)
c.406+663A= (n.406+663A=)
n.616A=
17g.39872288A>CCA399279266ZPBP2c.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
17g.39872288A>GCA399279265ZPBP2c.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
17g.39872288A>TCA8535959ZPBP2c.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
17g.39872289T>ACA399279267ZPBP2c.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
17g.39872289T>CCA499931595ZPBP2c.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
17g.39872289T>GCA399279268ZPBP2c.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
17g.39872290T>ACA399279270ZPBP2c.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
17g.39872290T>CCA399279274ZPBP2c.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
17g.39872290T>GCA399279272ZPBP2c.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
17g.39872291C>ACA399279277ZPBP2c.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
17g.39872291C=CA2259290846ZPBP2c.428C= (p.Ser143=)
c.362C= (p.Ser121=)
c.74C= (p.Ser25=)
c.406+666C= (n.406+666C=)
n.619C=
17g.39872291C>GCA399279281ZPBP2c.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
17g.39872291C>TCA290455765ZPBP2c.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
17g.39872292A=CA2259290847ZPBP2c.429A= (p.Ser143=)
c.363A= (p.Ser121=)
c.75A= (p.Ser25=)
c.406+667A= (n.406+667A=)
n.620A=
17g.39872292A>CCA499931597ZPBP2c.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
17g.39872292A>GCA290455770ZPBP2c.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
17g.39872292A>TCA499931598ZPBP2c.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
17g.39872293T>ACA399279286ZPBP2c.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
17g.39872293T>CCA399279285ZPBP2c.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
17g.39872293T>GCA399279290ZPBP2c.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
17g.39872293T=CA2259290848ZPBP2c.430T= (p.Tyr144=)
c.364T= (p.Tyr122=)
c.76T= (p.Tyr26=)
c.406+668T= (n.406+668T=)
n.621T=
17g.39872294A>CCA399279292ZPBP2c.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
17g.39872294A>GCA399279299ZPBP2c.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
17g.39872294A>TCA399279295ZPBP2c.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
17g.39872296_39872300dupCA983635327ZPBP2c.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
17g.39872295T>ACA399279301ZPBP2c.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
17g.39872295T>CCA499931602ZPBP2c.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
17g.39872295T>GCA399279303ZPBP2c.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
17g.39872296C>ACA399279308ZPBP2c.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
17g.39872296C>GCA399279310ZPBP2c.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
17g.39872296C>TCA399279313ZPBP2c.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
17g.39872297A=CA2259290849ZPBP2c.434A= (p.Gln145=)
c.368A= (p.Gln123=)
c.80A= (p.Gln27=)
c.406+672A= (n.406+672A=)
n.625A=
17g.39872297A>CCA399279315ZPBP2c.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
17g.39872297A>GCA8535960ZPBP2c.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
17g.39872297A>TCA399279320ZPBP2c.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
17g.39872298G>ACA499931603ZPBP2c.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
17g.39872298G>CCA399279324ZPBP2c.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
17g.39872298G>TCA399279325ZPBP2c.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
17g.39872299A=CA2259290850ZPBP2c.436A= (p.Met146=)
c.370A= (p.Met124=)
c.82A= (p.Met28=)
c.406+674A= (n.406+674A=)
n.627A=
17g.39872299A>CCA399279328ZPBP2c.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
17g.39872299A>GCA399279331ZPBP2c.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
17g.39872299A>TCA399279334ZPBP2c.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
17g.39872300T>ACA399279338ZPBP2c.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
17g.39872300T>CCA399279343ZPBP2c.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
17g.39872300T>GCA399279341ZPBP2c.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
17g.39872300T=CA2259290851ZPBP2c.437T= (p.Met146=)
c.371T= (p.Met124=)
c.83T= (p.Met28=)
c.406+675T= (n.406+675T=)
n.628T=
17g.39872300_39872302dupCA2637649627ZPBP2c.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
17g.39872302_39872305dupCA2637649628ZPBP2c.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
17g.39872301G>ACA399279346ZPBP2c.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
17g.39872301G>CCA399279348ZPBP2c.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
17g.39872301G>TCA399279351ZPBP2c.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
17g.39872302G>ACA399279353ZPBP2c.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
17g.39872302G>CCA399279356ZPBP2c.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
17g.39872302G>TCA399279359ZPBP2c.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
17g.39872303C>ACA399279361ZPBP2c.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
17g.39872303C=CA2259290852ZPBP2c.440C= (p.Ala147=)
c.374C= (p.Ala125=)
c.86C= (p.Ala29=)
c.406+678C= (n.406+678C=)
n.631C=
17g.39872303C>GCA399279363ZPBP2c.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
17g.39872303C>TCA399279365ZPBP2c.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
17g.39872304T>ACA499931604ZPBP2c.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
17g.39872304T>CCA499931605ZPBP2c.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
17g.39872304T>GCA499931606ZPBP2c.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
17g.39872305G>ACA399279372ZPBP2c.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
17g.39872305G>CCA399279370ZPBP2c.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
17g.39872305G=CA2259290853ZPBP2c.442G= (p.Val148=)
c.376G= (p.Val126=)
c.88G= (p.Val30=)
c.406+680G= (n.406+680G=)
n.633G=
17g.39872305G>TCA399279369ZPBP2c.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
17g.39872306T>ACA399279376ZPBP2c.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
17g.39872306T>CCA399279378ZPBP2c.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
17g.39872306T>GCA399279380ZPBP2c.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
17g.39872307A>CCA499931607ZPBP2c.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
17g.39872307A>GCA499931609ZPBP2c.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
17g.39872307A>TCA499931608ZPBP2c.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
17g.39872308C>ACA399279383ZPBP2c.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
17g.39872308C=CA2259290854ZPBP2c.445C= (p.Arg149=)
c.379C= (p.Arg127=)
c.91C= (p.Arg31=)
c.406+683C= (n.406+683C=)
n.636C=
17g.39872308C>GCA399279384ZPBP2c.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
17g.39872308C>TCA8535961ZPBP2c.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
17g.39872309G>ACA8535962ZPBP2c.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
17g.39872309G>CCA399279390ZPBP2c.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
17g.39872309G=CA2259290855ZPBP2c.446G= (p.Arg149=)
c.380G= (p.Arg127=)
c.92G= (p.Arg31=)
c.406+684G= (n.406+684G=)
n.637G=
17g.39872309G>TCA399279392ZPBP2c.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
17g.39872310T>ACA499931610ZPBP2c.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
17g.39872310T>CCA499931611ZPBP2c.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
17g.39872310T>GCA499931612ZPBP2c.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
17g.39872311T>ACA399279397ZPBP2c.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
17g.39872311T>CCA399279399ZPBP2c.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
17g.39872311T>GCA399279402ZPBP2c.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
17g.39872312T>ACA399279415ZPBP2c.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
17g.39872312T>CCA399279406ZPBP2c.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
17g.39872312T>GCA399279412ZPBP2c.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
17g.39872313T>ACA399279418ZPBP2c.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
17g.39872313T>CCA499931613ZPBP2c.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
17g.39872313T>GCA399279419ZPBP2c.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
17g.39872313_39872316delinsTACCCA2259290856ZPBP2c.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
17g.39872314A>CCA399279422ZPBP2c.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
17g.39872314A>GCA399279423ZPBP2c.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
17g.39872314A>TCA399279425ZPBP2c.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
17g.39872316_39872318delCA625946506ZPBP2c.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
17g.39872315C>ACA399279426ZPBP2c.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
17g.39872315C>GCA399279429ZPBP2c.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
17g.39872315C>TCA399279432ZPBP2c.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
17g.39872316C>ACA499931614ZPBP2c.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
17g.39872316C>GCA499931615ZPBP2c.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
17g.39872316C>TCA499931616ZPBP2c.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
17g.39872317A>CCA399279435ZPBP2c.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
17g.39872317A>GCA399279437ZPBP2c.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
17g.39872317A>TCA399279439ZPBP2c.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
17g.39872318C>ACA399279447ZPBP2c.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
17g.39872318C=CA2259290857ZPBP2c.455C= (p.Thr152=)
c.389C= (p.Thr130=)
c.101C= (p.Thr34=)
c.406+693C= (n.406+693C=)
n.646C=
17g.39872318C>GCA399279444ZPBP2c.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
17g.39872318C>TCA8535963ZPBP2c.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
17g.39872319A=CA2259290858ZPBP2c.456A= (p.Thr152=)
c.390A= (p.Thr130=)
c.102A= (p.Thr34=)
c.406+694A= (n.406+694A=)
n.647A=
17g.39872319A>CCA499931617ZPBP2c.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
17g.39872319A>GCA499931618ZPBP2c.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
17g.39872319A>TCA499931619ZPBP2c.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
17g.39872320A>CCA499931620ZPBP2c.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
17g.39872320A>GCA399279450ZPBP2c.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
17g.39872320A>TCA399279452ZPBP2c.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
17g.39872321G>ACA399279454ZPBP2c.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
17g.39872321G>CCA399279457ZPBP2c.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
17g.39872321G>TCA399279459ZPBP2c.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
17g.39872322G>ACA8535964ZPBP2c.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
17g.39872322G>CCA399279465ZPBP2c.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
17g.39872322G=CA2259290859ZPBP2c.459G= (p.Arg153=)
c.393G= (p.Arg131=)
c.105G= (p.Arg35=)
c.406+697G= (n.406+697G=)
n.650G=
17g.39872322G>TCA399279462ZPBP2c.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
17g.39872323T>ACA399279469ZPBP2c.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
17g.39872323T>CCA399279472ZPBP2c.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
17g.39872323T>GCA399279475ZPBP2c.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
17g.39872324C>ACA399279476ZPBP2c.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
17g.39872324C>GCA399279478ZPBP2c.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
17g.39872324C>TCA399279479ZPBP2c.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
17g.39872325T>ACA499931621ZPBP2c.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
17g.39872325T>CCA290455814ZPBP2c.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
17g.39872325T>GCA499931622ZPBP2c.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
17g.39872325T=CA2259290860ZPBP2c.462T= (p.Ser154=)
c.396T= (p.Ser132=)
c.108T= (p.Ser36=)
c.406+700T= (n.406+700T=)
n.653T=
17g.39872326T>ACA399279487ZPBP2c.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
17g.39872326T>CCA399279482ZPBP2c.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
17g.39872326T>GCA399279485ZPBP2c.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
17g.39872326T=CA2259290861ZPBP2c.463T= (p.Cys155=)
c.397T= (p.Cys133=)
c.109T= (p.Cys37=)
c.406+701T= (n.406+701T=)
n.654T=
17g.39872327G>ACA8535965ZPBP2c.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
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.39872327G>CCA399279491ZPBP2c.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
17g.39872327G=CA2259290862ZPBP2c.464G= (p.Cys155=)
c.398G= (p.Cys133=)
c.110G= (p.Cys37=)
c.406+702G= (n.406+702G=)
n.655G=
17g.39872327G>TCA399279494ZPBP2c.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
17g.39872327dupCA625946507ZPBP2c.464dup (p.Cys155TrpfsTer7)
c.398dup (p.Cys133TrpfsTer7)
c.110dup (p.Cys37TrpfsTer7)
c.406+702dup (n.406+702dup)
n.655dup
 dbSNP gnomAD v2 gnomAD v4
17g.39872328T>ACA399279495ZPBP2c.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
17g.39872328T>CCA499931623ZPBP2c.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
17g.39872328T>GCA399279496ZPBP2c.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
17g.39872329A>CCA399279500ZPBP2c.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
17g.39872329A>GCA399279503ZPBP2c.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
17g.39872329A>TCA399279506ZPBP2c.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
17g.39872330T>ACA399279507ZPBP2c.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
17g.39872330T>CCA399279510ZPBP2c.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
17g.39872330T>GCA399279512ZPBP2c.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
17g.39872331A>CCA499931624ZPBP2c.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
17g.39872331A>GCA399279513ZPBP2c.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
17g.39872331A>TCA499931625ZPBP2c.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
17g.39872332G>ACA399279516ZPBP2c.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
17g.39872332G>CCA399279521ZPBP2c.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
17g.39872332G>TCA399279519ZPBP2c.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
17g.39872333G>ACA399279524ZPBP2c.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
17g.39872333G>CCA399279527ZPBP2c.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
17g.39872333G>TCA399279529ZPBP2c.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
17g.39872334G>ACA499931626ZPBP2c.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
17g.39872334G>CCA499931627ZPBP2c.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
17g.39872334G=CA2259290863ZPBP2c.471G= (p.Gly157=)
c.405G= (p.Gly135=)
c.117G= (p.Gly39=)
c.407-710G= (n.407-710G=)
n.662G=
17g.39872334G>TCA499931628ZPBP2c.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
17g.39872335A>CCA499931629ZPBP2c.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
17g.39872335A>GCA399279532ZPBP2c.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
17g.39872335A>TCA399279535ZPBP2c.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
17g.39872336G>ACA399279538ZPBP2c.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
17g.39872336G>CCA399279541ZPBP2c.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
17g.39872336G>TCA399279543ZPBP2c.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
17g.39872337A>CCA399279546ZPBP2c.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
17g.39872337A>GCA499931630ZPBP2c.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
17g.39872337A>TCA399279550ZPBP2c.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
17g.39872338T>ACA399279553ZPBP2c.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
17g.39872338T>CCA399279556ZPBP2c.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
17g.39872338T>GCA399279558ZPBP2c.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
17g.39872339A>CCA399279559ZPBP2c.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
17g.39872339A>GCA399279563ZPBP2c.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
17g.39872339A>TCA399279560ZPBP2c.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
17g.39872339_39872340delinsACCA2259290864ZPBP2c.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
17g.39872340delCA2259290865ZPBP2c.477del (p.Tyr159Ter)
c.411del (p.Tyr137Ter)
c.123del (p.Tyr41Ter)
c.407-704del (n.407-704del)
n.668del
 dbSNP gnomAD v4
17g.39872340C>ACA399279565ZPBP2c.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
17g.39872340C=CA2259290866ZPBP2c.477C= (p.Tyr159=)
c.411C= (p.Tyr137=)
c.123C= (p.Tyr41=)
c.407-704C= (n.407-704C=)
n.668C=
17g.39872340C>GCA399279568ZPBP2c.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
17g.39872340C>TCA499931631ZPBP2c.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
17g.39872341A=CA2259290867ZPBP2c.478A= (p.Asn160=)
c.412A= (p.Asn138=)
c.124A= (p.Asn42=)
c.407-703A= (n.407-703A=)
n.669A=
17g.39872341A>CCA399279570ZPBP2c.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
17g.39872341A>GCA399279573ZPBP2c.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
17g.39872341A>TCA399279576ZPBP2c.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
17g.39872342A>CCA399279580ZPBP2c.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
17g.39872342A>GCA399279581ZPBP2c.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
17g.39872342A>TCA399279584ZPBP2c.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
17g.39872343T>ACA399279586ZPBP2c.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
17g.39872343T>CCA499931632ZPBP2c.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
17g.39872343T>GCA399279589ZPBP2c.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
17g.39872344G>ACA399279594ZPBP2c.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
17g.39872344G>CCA399279598ZPBP2c.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
17g.39872344G>TCA399279592ZPBP2c.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
17g.39872345A=CA2259290868ZPBP2c.482A= (p.Asp161=)
c.416A= (p.Asp139=)
c.128A= (p.Asp43=)
c.407-699A= (n.407-699A=)
n.673A=
17g.39872345A>CCA399279602ZPBP2c.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
17g.39872345A>GCA8535966ZPBP2c.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
17g.39872345A>TCA399279604ZPBP2c.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
17g.39872346T>ACA399279605ZPBP2c.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
17g.39872346T>CCA499931633ZPBP2c.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
17g.39872346T>GCA399279607ZPBP2c.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
17g.39872347G>ACA399279609ZPBP2c.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
17g.39872347G>CCA399279610ZPBP2c.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
17g.39872347G>TCA399279612ZPBP2c.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
17g.39872348T>ACA399279613ZPBP2c.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
17g.39872348T>CCA399279614ZPBP2c.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
17g.39872348T>GCA399279615ZPBP2c.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
17g.39872349A>CCA499931701ZPBP2c.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
17g.39872349A>GCA499931703ZPBP2c.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
17g.39872349A>TCA499931702ZPBP2c.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
17g.39872350T>ACA399279617ZPBP2c.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
17g.39872350T>CCA399279619ZPBP2c.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
17g.39872350T>GCA399279620ZPBP2c.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
17g.39872351T>ACA399279622ZPBP2c.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
17g.39872351T>CCA399279624ZPBP2c.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
17g.39872351T>GCA399279625ZPBP2c.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
17g.39872352C>ACA399279627ZPBP2c.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
17g.39872352C>GCA399279628ZPBP2c.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
17g.39872352C>TCA499931707ZPBP2c.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
17g.39872353T>ACA399279634ZPBP2c.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
17g.39872353T>CCA399279635ZPBP2c.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
17g.39872353T>GCA399279636ZPBP2c.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
17g.39872353T=CA2259290869ZPBP2c.490T= (p.Phe164=)
c.424T= (p.Phe142=)
c.136T= (p.Phe46=)
c.407-691T= (n.407-691T=)
n.681T=
17g.39872354T>ACA399279639ZPBP2c.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
17g.39872354T>CCA399279643ZPBP2c.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
17g.39872354T>GCA399279644ZPBP2c.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
17g.39872354T=CA2259290870ZPBP2c.491T= (p.Phe164=)
c.425T= (p.Phe142=)
c.137T= (p.Phe46=)
c.407-690T= (n.407-690T=)
n.682T=
17g.39872355T>ACA399279646ZPBP2c.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
17g.39872355T>CCA8535967ZPBP2c.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
17g.39872355T>GCA399279650ZPBP2c.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
17g.39872355T=CA2259290871ZPBP2c.492T= (p.Phe164=)
c.426T= (p.Phe142=)
c.138T= (p.Phe46=)
c.407-689T= (n.407-689T=)
n.683T=
17g.39872356A>CCA499931708ZPBP2c.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
17g.39872356A>GCA399279652ZPBP2c.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
17g.39872356A>TCA399279653ZPBP2c.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
17g.39872357G>ACA399279656ZPBP2c.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
17g.39872357G>CCA399279655ZPBP2c.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
17g.39872357G=CA2259290872ZPBP2c.494G= (p.Arg165=)
c.428G= (p.Arg143=)
c.140G= (p.Arg47=)
c.407-687G= (n.407-687G=)
n.685G=
17g.39872357G>TCA399279654ZPBP2c.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
17g.39872358A>CCA399279657ZPBP2c.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
17g.39872358A>GCA499931709ZPBP2c.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
17g.39872358A>TCA399279658ZPBP2c.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
17g.39872359G>ACA399279659ZPBP2c.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
17g.39872359G>CCA399279660ZPBP2c.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
17g.39872359G>TCA399279661ZPBP2c.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
17g.39872360T>ACA399279663ZPBP2c.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
17g.39872360T>CCA399279662ZPBP2c.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
17g.39872360T>GCA8535968ZPBP2c.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
17g.39872360T=CA2259290873ZPBP2c.497T= (p.Val166=)
c.431T= (p.Val144=)
c.143T= (p.Val48=)
c.407-684T= (n.407-684T=)
n.688T=
17g.39872361G>ACA8535969ZPBP2c.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
17g.39872361G>CCA499931711ZPBP2c.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
17g.39872361G=CA2259290874ZPBP2c.498G= (p.Val166=)
c.432G= (p.Val144=)
c.144G= (p.Val48=)
c.407-683G= (n.407-683G=)
n.689G=
17g.39872361G>TCA499931712ZPBP2c.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
17g.39872362C>ACA399279666ZPBP2c.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
17g.39872362C>GCA399279669ZPBP2c.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
17g.39872362C>TCA499931713ZPBP2c.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
17g.39872363T>ACA399279671ZPBP2c.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
17g.39872363T>CCA399279674ZPBP2c.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
17g.39872363T>GCA399279676ZPBP2c.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
17g.39872364G>ACA499931714ZPBP2c.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
17g.39872364G>CCA499931715ZPBP2c.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
17g.39872364G=CA2259290875ZPBP2c.501G= (p.Leu167=)
c.435G= (p.Leu145=)
c.147G= (p.Leu49=)
c.407-680G= (n.407-680G=)
n.692G=
17g.39872364G>TCA499931716ZPBP2c.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
17g.39872365A>CCA399279677ZPBP2c.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
17g.39872365A>GCA399279679ZPBP2c.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
17g.39872365A>TCA399279678ZPBP2c.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
17g.39872366A=CA2259290876ZPBP2c.503A= (p.Lys168=)
c.437A= (p.Lys146=)
c.149A= (p.Lys50=)
c.407-678A= (n.407-678A=)
n.694A=
17g.39872366A>CCA399279680ZPBP2c.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
17g.39872366A>GCA399279681ZPBP2c.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
17g.39872366A>TCA399279683ZPBP2c.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
17g.39872367G>ACA499931717ZPBP2c.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
17g.39872367G>CCA399279684ZPBP2c.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
17g.39872367G>TCA399279686ZPBP2c.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
17g.39872368A>CCA399279689ZPBP2c.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
17g.39872368A>GCA399279693ZPBP2c.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
17g.39872368A>TCA399279700ZPBP2c.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
17g.39872369A>CCA399279704ZPBP2c.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
17g.39872369A>GCA399279705ZPBP2c.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
17g.39872369A>TCA399279706ZPBP2c.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
17g.39872370A>CCA399279707ZPBP2c.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
17g.39872370A>GCA499931718ZPBP2c.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
17g.39872370A>TCA399279708ZPBP2c.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
17g.39872371A=CA2259290877ZPBP2c.508A= (p.Ile170=)
c.442A= (p.Ile148=)
c.154A= (p.Ile52=)
c.407-673A= (n.407-673A=)
n.699A=
17g.39872371A>CCA399279710ZPBP2c.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
17g.39872371A>GCA399279718ZPBP2c.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
17g.39872371A>TCA399279715ZPBP2c.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
17g.39872372T>ACA399279719ZPBP2c.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
17g.39872372T>CCA399279721ZPBP2c.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
17g.39872372T>GCA399279723ZPBP2c.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
17g.39872373C>ACA499931720ZPBP2c.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
17g.39872373C>GCA399279726ZPBP2c.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
17g.39872373C>TCA499931719ZPBP2c.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
17g.39872374T>ACA399279731ZPBP2c.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
17g.39872374T>CCA499931721ZPBP2c.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
17g.39872374T>GCA399279733ZPBP2c.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
17g.39872375T>ACA399279736ZPBP2c.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
17g.39872375T>CCA399279737ZPBP2c.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
17g.39872375T>GCA399279743ZPBP2c.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
17g.39872376G>ACA499931722ZPBP2c.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
17g.39872376G>CCA399279746ZPBP2c.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
17g.39872376G=CA2259290878ZPBP2c.513G= (p.Leu171=)
c.447G= (p.Leu149=)
c.159G= (p.Leu53=)
c.407-668G= (n.407-668G=)
n.704G=
17g.39872376G>TCA399279747ZPBP2c.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
17g.39872377G>ACA399279752ZPBP2c.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
17g.39872377G>CCA399279751ZPBP2c.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
17g.39872377G=CA2259290879ZPBP2c.514G= (p.Asp172=)
c.448G= (p.Asp150=)
c.160G= (p.Asp54=)
c.407-667G= (n.407-667G=)
n.705G=
17g.39872377G>TCA399279748ZPBP2c.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
17g.39872378A>CCA399279755ZPBP2c.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
17g.39872378A>GCA399279756ZPBP2c.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
17g.39872378A>TCA399279757ZPBP2c.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
17g.39872379T>ACA399279758ZPBP2c.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
17g.39872379T>CCA499931723ZPBP2c.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
17g.39872379T>GCA399279759ZPBP2c.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
17g.39872379_39872380delinsTACA2259290880ZPBP2c.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
17g.39872380delCA290455842ZPBP2c.517del (p.Ser173ValfsTer2)
c.451del (p.Ser151ValfsTer2)
c.163del (p.Ser55ValfsTer2)
c.407-664del (n.407-664del)
n.708del
 dbSNP gnomAD v4
17g.39872380A=CA2259290882ZPBP2c.517A= (p.Ser173=)
c.451A= (p.Ser151=)
c.163A= (p.Ser55=)
c.407-664A= (n.407-664A=)
n.708A=
17g.39872380A>CCA399279763ZPBP2c.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
17g.39872380A>GCA399279764ZPBP2c.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
17g.39872380A>TCA399279766ZPBP2c.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
17g.39872380_39872381delinsAGCA2259290881ZPBP2c.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
17g.39872381delCA771906275ZPBP2c.518del (p.Ser173IlefsTer2)
c.452del (p.Ser151IlefsTer2)
c.164del (p.Ser55IlefsTer2)
c.407-663del (n.407-663del)
n.709del
 dbSNP
17g.39872381G>ACA399279772ZPBP2c.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
17g.39872381G>CCA399279773ZPBP2c.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
17g.39872381G=CA2259290883ZPBP2c.518G= (p.Ser173=)
c.452G= (p.Ser151=)
c.164G= (p.Ser55=)
c.407-663G= (n.407-663G=)
n.709G=
17g.39872381G>TCA8535970ZPBP2c.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
17g.39872381_39872382delinsGTCA2259290884ZPBP2c.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
17g.39872381_39872382delinsTCCA290455854ZPBP2c.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
17g.39872382T>ACA399279778ZPBP2c.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
17g.39872382T>CCA8535971ZPBP2c.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
17g.39872382T>GCA399279776ZPBP2c.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
17g.39872382T=CA2259290885ZPBP2c.519T= (p.Ser173=)
c.453T= (p.Ser151=)
c.165T= (p.Ser55=)
c.407-662T= (n.407-662T=)
n.710T=
17g.39872383C>ACA399279783ZPBP2c.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
17g.39872383C=CA2259290886ZPBP2c.520C= (p.Leu174=)
c.454C= (p.Leu152=)
c.166C= (p.Leu56=)
c.407-661C= (n.407-661C=)
n.711C=
17g.39872383C>GCA399279784ZPBP2c.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
17g.39872383C>TCA8535972ZPBP2c.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
17g.39872384T>ACA399279788ZPBP2c.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
17g.39872384T>CCA399279789ZPBP2c.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
17g.39872384T>GCA399279792ZPBP2c.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
17g.39872384dupCA8535973ZPBP2c.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

Number of alleles fetched