UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.100806498C>A | CA5650829 | PAX2 | c.778C>A (p.Arg260=) c.754C>A (p.Arg252=) c.685C>A (p.Arg229=) c.667C>A (p.Arg223=) c.682C>A (p.Arg228=) n.406C>A c.673C>A (p.Arg225=) n.400C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.100806498C= | CA1931920622 | PAX2 | c.778C= (p.Arg260=) c.754C= (p.Arg252=) c.685C= (p.Arg229=) c.667C= (p.Arg223=) c.682C= (p.Arg228=) n.406C= c.673C= (p.Arg225=) n.400C= | |
| 10 | g.100806498C>G | CA378258995 | PAX2 | c.778C>G (p.Arg260Gly) c.754C>G (p.Arg252Gly) c.685C>G (p.Arg229Gly) c.667C>G (p.Arg223Gly) c.682C>G (p.Arg228Gly) n.406C>G c.673C>G (p.Arg225Gly) n.400C>G | |
| 10 | g.100806498C>T | CA233167 | PAX2 | c.778C>T (p.Arg260Ter) c.754C>T (p.Arg252Ter) c.685C>T (p.Arg229Ter) c.667C>T (p.Arg223Ter) c.682C>T (p.Arg228Ter) n.406C>T c.673C>T (p.Arg225Ter) n.400C>T | ClinVar dbSNP |
| 10 | g.100806499G>A | CA213069710 | PAX2 | c.779G>A (p.Arg260Gln) c.755G>A (p.Arg252Gln) c.686G>A (p.Arg229Gln) c.668G>A (p.Arg223Gln) c.683G>A (p.Arg228Gln) n.407G>A c.674G>A (p.Arg225Gln) n.401G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 10 | g.100806499G>C | CA213069711 | PAX2 | c.779G>C (p.Arg260Pro) c.755G>C (p.Arg252Pro) c.686G>C (p.Arg229Pro) c.668G>C (p.Arg223Pro) c.683G>C (p.Arg228Pro) n.407G>C c.674G>C (p.Arg225Pro) n.401G>C | dbSNP |
| 10 | g.100806499G= | CA1931920623 | PAX2 | c.779G= (p.Arg260=) c.755G= (p.Arg252=) c.686G= (p.Arg229=) c.668G= (p.Arg223=) c.683G= (p.Arg228=) n.407G= c.674G= (p.Arg225=) n.401G= | |
| 10 | g.100806499G>T | CA5650830 | PAX2 | c.779G>T (p.Arg260Leu) c.755G>T (p.Arg252Leu) c.686G>T (p.Arg229Leu) c.668G>T (p.Arg223Leu) c.683G>T (p.Arg228Leu) n.407G>T c.674G>T (p.Arg225Leu) n.401G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.100806500A= | CA1931920624 | PAX2 | c.780A= (p.Arg260=) c.756A= (p.Arg252=) c.687A= (p.Arg229=) c.669A= (p.Arg223=) c.684A= (p.Arg228=) n.408A= c.675A= (p.Arg225=) n.402A= | |
| 10 | g.100806500A>C | CA471216347 | PAX2 | c.780A>C (p.Arg260=) c.756A>C (p.Arg252=) c.687A>C (p.Arg229=) c.669A>C (p.Arg223=) c.684A>C (p.Arg228=) n.408A>C c.675A>C (p.Arg225=) n.402A>C | |
| 10 | g.100806500A>G | CA5650831 | PAX2 | c.780A>G (p.Arg260=) c.756A>G (p.Arg252=) c.687A>G (p.Arg229=) c.669A>G (p.Arg223=) c.684A>G (p.Arg228=) n.408A>G c.675A>G (p.Arg225=) n.402A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.100806500A>T | CA471216348 | PAX2 | c.780A>T (p.Arg260=) c.756A>T (p.Arg252=) c.687A>T (p.Arg229=) c.669A>T (p.Arg223=) c.684A>T (p.Arg228=) n.408A>T c.675A>T (p.Arg225=) n.402A>T | |
| 10 | g.100806501G>A | CA378258996 | PAX2 | c.781G>A (p.Ala261Thr) c.757G>A (p.Ala253Thr) c.688G>A (p.Ala230Thr) c.670G>A (p.Ala224Thr) c.685G>A (p.Ala229Thr) n.409G>A c.676G>A (p.Ala226Thr) n.403G>A | gnomAD v4 |
| 10 | g.100806501G>C | CA378258997 | PAX2 | c.781G>C (p.Ala261Pro) c.757G>C (p.Ala253Pro) c.688G>C (p.Ala230Pro) c.670G>C (p.Ala224Pro) c.685G>C (p.Ala229Pro) n.409G>C c.676G>C (p.Ala226Pro) n.403G>C | |
| 10 | g.100806501G>T | CA378258998 | PAX2 | c.781G>T (p.Ala261Ser) c.757G>T (p.Ala253Ser) c.688G>T (p.Ala230Ser) c.670G>T (p.Ala224Ser) c.685G>T (p.Ala229Ser) n.409G>T c.676G>T (p.Ala226Ser) n.403G>T | |
| 10 | g.100806502C>A | CA378258999 | PAX2 | c.782C>A (p.Ala261Asp) c.758C>A (p.Ala253Asp) c.689C>A (p.Ala230Asp) c.671C>A (p.Ala224Asp) c.686C>A (p.Ala229Asp) n.410C>A c.677C>A (p.Ala226Asp) n.404C>A | |
| 10 | g.100806502C= | CA1931920625 | PAX2 | c.782C= (p.Ala261=) c.758C= (p.Ala253=) c.689C= (p.Ala230=) c.671C= (p.Ala224=) c.686C= (p.Ala229=) n.410C= c.677C= (p.Ala226=) n.404C= | |
| 10 | g.100806502C>G | CA378259000 | PAX2 | c.782C>G (p.Ala261Gly) c.758C>G (p.Ala253Gly) c.689C>G (p.Ala230Gly) c.671C>G (p.Ala224Gly) c.686C>G (p.Ala229Gly) n.410C>G c.677C>G (p.Ala226Gly) n.404C>G | COSMIC COSMIC |
| 10 | g.100806502C>T | CA5650832 | PAX2 | c.782C>T (p.Ala261Val) c.758C>T (p.Ala253Val) c.689C>T (p.Ala230Val) c.671C>T (p.Ala224Val) c.686C>T (p.Ala229Val) n.410C>T c.677C>T (p.Ala226Val) n.404C>T | dbSNP ExAC gnomAD v4 |
| 10 | g.100806503T>A | CA471216349 | PAX2 | c.783T>A (p.Ala261=) c.759T>A (p.Ala253=) c.690T>A (p.Ala230=) c.672T>A (p.Ala224=) c.687T>A (p.Ala229=) n.411T>A c.678T>A (p.Ala226=) n.405T>A | |
| 10 | g.100806503T>C | CA471216350 | PAX2 | c.783T>C (p.Ala261=) c.759T>C (p.Ala253=) c.690T>C (p.Ala230=) c.672T>C (p.Ala224=) c.687T>C (p.Ala229=) n.411T>C c.678T>C (p.Ala226=) n.405T>C | |
| 10 | g.100806503T>G | CA471216351 | PAX2 | c.783T>G (p.Ala261=) c.759T>G (p.Ala253=) c.690T>G (p.Ala230=) c.672T>G (p.Ala224=) c.687T>G (p.Ala229=) n.411T>G c.678T>G (p.Ala226=) n.405T>G | |
| 10 | g.100806504G>A | CA378259003 | PAX2 | c.784G>A (p.Asp262Asn) c.760G>A (p.Asp254Asn) c.691G>A (p.Asp231Asn) c.673G>A (p.Asp225Asn) c.688G>A (p.Asp230Asn) n.412G>A c.679G>A (p.Asp227Asn) n.406G>A | |
| 10 | g.100806504G>C | CA378259002 | PAX2 | c.784G>C (p.Asp262His) c.760G>C (p.Asp254His) c.691G>C (p.Asp231His) c.673G>C (p.Asp225His) c.688G>C (p.Asp230His) n.412G>C c.679G>C (p.Asp227His) n.406G>C | |
| 10 | g.100806504G>T | CA378259001 | PAX2 | c.784G>T (p.Asp262Tyr) c.760G>T (p.Asp254Tyr) c.691G>T (p.Asp231Tyr) c.673G>T (p.Asp225Tyr) c.688G>T (p.Asp230Tyr) n.412G>T c.679G>T (p.Asp227Tyr) n.406G>T | |
| 10 | g.100806505A>C | CA378259004 | PAX2 | c.785A>C (p.Asp262Ala) c.761A>C (p.Asp254Ala) c.692A>C (p.Asp231Ala) c.674A>C (p.Asp225Ala) c.689A>C (p.Asp230Ala) n.413A>C c.680A>C (p.Asp227Ala) n.407A>C | |
| 10 | g.100806505A>G | CA378259005 | PAX2 | c.785A>G (p.Asp262Gly) c.761A>G (p.Asp254Gly) c.692A>G (p.Asp231Gly) c.674A>G (p.Asp225Gly) c.689A>G (p.Asp230Gly) n.413A>G c.680A>G (p.Asp227Gly) n.407A>G | ClinVar |
| 10 | g.100806505A>T | CA378259006 | PAX2 | c.785A>T (p.Asp262Val) c.761A>T (p.Asp254Val) c.692A>T (p.Asp231Val) c.674A>T (p.Asp225Val) c.689A>T (p.Asp230Val) n.413A>T c.680A>T (p.Asp227Val) n.407A>T | |
| 10 | g.100806506C>A | CA378259007 | PAX2 | c.786C>A (p.Asp262Glu) c.762C>A (p.Asp254Glu) c.693C>A (p.Asp231Glu) c.675C>A (p.Asp225Glu) c.690C>A (p.Asp230Glu) n.414C>A c.681C>A (p.Asp227Glu) n.408C>A | |
| 10 | g.100806506C>G | CA378259008 | PAX2 | c.786C>G (p.Asp262Glu) c.762C>G (p.Asp254Glu) c.693C>G (p.Asp231Glu) c.675C>G (p.Asp225Glu) c.690C>G (p.Asp230Glu) n.414C>G c.681C>G (p.Asp227Glu) n.408C>G | |
| 10 | g.100806506C>T | CA471216352 | PAX2 | c.786C>T (p.Asp262=) c.762C>T (p.Asp254=) c.693C>T (p.Asp231=) c.675C>T (p.Asp225=) c.690C>T (p.Asp230=) n.414C>T c.681C>T (p.Asp227=) n.408C>T | |
| 10 | g.100806507A= | CA1931920626 | PAX2 | c.787A= (p.Thr263=) c.763A= (p.Thr255=) c.694A= (p.Thr232=) c.676A= (p.Thr226=) c.691A= (p.Thr231=) n.415A= c.682A= (p.Thr228=) n.409A= | |
| 10 | g.100806507A>C | CA378259009 | PAX2 | c.787A>C (p.Thr263Pro) c.763A>C (p.Thr255Pro) c.694A>C (p.Thr232Pro) c.676A>C (p.Thr226Pro) c.691A>C (p.Thr231Pro) n.415A>C c.682A>C (p.Thr228Pro) n.409A>C | |
| 10 | g.100806507A>G | CA378259010 | PAX2 | c.787A>G (p.Thr263Ala) c.763A>G (p.Thr255Ala) c.694A>G (p.Thr232Ala) c.676A>G (p.Thr226Ala) c.691A>G (p.Thr231Ala) n.415A>G c.682A>G (p.Thr228Ala) n.409A>G | dbSNP gnomAD v4 |
| 10 | g.100806507A>T | CA378259011 | PAX2 | c.787A>T (p.Thr263Ser) c.763A>T (p.Thr255Ser) c.694A>T (p.Thr232Ser) c.676A>T (p.Thr226Ser) c.691A>T (p.Thr231Ser) n.415A>T c.682A>T (p.Thr228Ser) n.409A>T | |
| 10 | g.100806508C>A | CA378259012 | PAX2 | c.788C>A (p.Thr263Asn) c.764C>A (p.Thr255Asn) c.695C>A (p.Thr232Asn) c.677C>A (p.Thr226Asn) c.692C>A (p.Thr231Asn) n.416C>A c.683C>A (p.Thr228Asn) n.410C>A | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.100806508C= | CA1931920627 | PAX2 | c.788C= (p.Thr263=) c.764C= (p.Thr255=) c.695C= (p.Thr232=) c.677C= (p.Thr226=) c.692C= (p.Thr231=) n.416C= c.683C= (p.Thr228=) n.410C= | |
| 10 | g.100806508C>G | CA378259013 | PAX2 | c.788C>G (p.Thr263Ser) c.764C>G (p.Thr255Ser) c.695C>G (p.Thr232Ser) c.677C>G (p.Thr226Ser) c.692C>G (p.Thr231Ser) n.416C>G c.683C>G (p.Thr228Ser) n.410C>G | |
| 10 | g.100806508C>T | CA378259014 | PAX2 | c.788C>T (p.Thr263Ile) c.764C>T (p.Thr255Ile) c.695C>T (p.Thr232Ile) c.677C>T (p.Thr226Ile) c.692C>T (p.Thr231Ile) n.416C>T c.683C>T (p.Thr228Ile) n.410C>T | |
| 10 | g.100806509C>A | CA471216354 | PAX2 | c.789C>A (p.Thr263=) c.765C>A (p.Thr255=) c.696C>A (p.Thr232=) c.678C>A (p.Thr226=) c.693C>A (p.Thr231=) n.417C>A c.684C>A (p.Thr228=) n.411C>A | |
| 10 | g.100806509C= | CA1931920628 | PAX2 | c.789C= (p.Thr263=) c.765C= (p.Thr255=) c.696C= (p.Thr232=) c.678C= (p.Thr226=) c.693C= (p.Thr231=) n.417C= c.684C= (p.Thr228=) n.411C= | |
| 10 | g.100806509C>G | CA471216355 | PAX2 | c.789C>G (p.Thr263=) c.765C>G (p.Thr255=) c.696C>G (p.Thr232=) c.678C>G (p.Thr226=) c.693C>G (p.Thr231=) n.417C>G c.684C>G (p.Thr228=) n.411C>G | gnomAD v4 COSMIC COSMIC |
| 10 | g.100806509C>T | CA471216356 | PAX2 | c.789C>T (p.Thr263=) c.765C>T (p.Thr255=) c.696C>T (p.Thr232=) c.678C>T (p.Thr226=) c.693C>T (p.Thr231=) n.417C>T c.684C>T (p.Thr228=) n.411C>T | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.100806510_100806512del | CA2722538406 | PAX2 | c.790_792del (p.Phe264del) c.766_768del (p.Phe256del) c.697_699del (p.Phe233del) c.679_681del (p.Phe227del) c.694_696del (p.Phe232del) n.418_420del c.685_687del (p.Phe229del) n.412_414del | dbSNP |
| 10 | g.100806510T>A | CA378259015 | PAX2 | c.790T>A (p.Phe264Ile) c.766T>A (p.Phe256Ile) c.697T>A (p.Phe233Ile) c.679T>A (p.Phe227Ile) c.694T>A (p.Phe232Ile) n.418T>A c.685T>A (p.Phe229Ile) n.412T>A | dbSNP |
| 10 | g.100806510T>C | CA378259016 | PAX2 | c.790T>C (p.Phe264Leu) c.766T>C (p.Phe256Leu) c.697T>C (p.Phe233Leu) c.679T>C (p.Phe227Leu) c.694T>C (p.Phe232Leu) n.418T>C c.685T>C (p.Phe229Leu) n.412T>C | |
| 10 | g.100806510T>G | CA378259017 | PAX2 | c.790T>G (p.Phe264Val) c.766T>G (p.Phe256Val) c.697T>G (p.Phe233Val) c.679T>G (p.Phe227Val) c.694T>G (p.Phe232Val) n.418T>G c.685T>G (p.Phe229Val) n.412T>G | |
| 10 | g.100806510T= | CA1931920629 | PAX2 | c.790T= (p.Phe264=) c.766T= (p.Phe256=) c.697T= (p.Phe233=) c.679T= (p.Phe227=) c.694T= (p.Phe232=) n.418T= c.685T= (p.Phe229=) n.412T= | |
| 10 | g.100806511T>A | CA378259019 | PAX2 | c.791T>A (p.Phe264Tyr) c.767T>A (p.Phe256Tyr) c.698T>A (p.Phe233Tyr) c.680T>A (p.Phe227Tyr) c.695T>A (p.Phe232Tyr) n.419T>A c.686T>A (p.Phe229Tyr) n.413T>A | |
| 10 | g.100806511T>C | CA378259020 | PAX2 | c.791T>C (p.Phe264Ser) c.767T>C (p.Phe256Ser) c.698T>C (p.Phe233Ser) c.680T>C (p.Phe227Ser) c.695T>C (p.Phe232Ser) n.419T>C c.686T>C (p.Phe229Ser) n.413T>C | |
| 10 | g.100806511T>G | CA378259018 | PAX2 | c.791T>G (p.Phe264Cys) c.767T>G (p.Phe256Cys) c.698T>G (p.Phe233Cys) c.680T>G (p.Phe227Cys) c.695T>G (p.Phe232Cys) n.419T>G c.686T>G (p.Phe229Cys) n.413T>G | |
| 10 | g.100806512C>A | CA378259021 | PAX2 | c.792C>A (p.Phe264Leu) c.768C>A (p.Phe256Leu) c.699C>A (p.Phe233Leu) c.681C>A (p.Phe227Leu) c.696C>A (p.Phe232Leu) n.420C>A c.687C>A (p.Phe229Leu) n.414C>A | |
| 10 | g.100806512C>G | CA378259022 | PAX2 | c.792C>G (p.Phe264Leu) c.768C>G (p.Phe256Leu) c.699C>G (p.Phe233Leu) c.681C>G (p.Phe227Leu) c.696C>G (p.Phe232Leu) n.420C>G c.687C>G (p.Phe229Leu) n.414C>G | |
| 10 | g.100806512C>T | CA471216358 | PAX2 | c.792C>T (p.Phe264=) c.768C>T (p.Phe256=) c.699C>T (p.Phe233=) c.681C>T (p.Phe227=) c.696C>T (p.Phe232=) n.420C>T c.687C>T (p.Phe229=) n.414C>T | ClinVar dbSNP gnomAD v4 |
| 10 | g.100806513A>C | CA378259023 | PAX2 | c.793A>C (p.Thr265Pro) c.769A>C (p.Thr257Pro) c.700A>C (p.Thr234Pro) c.682A>C (p.Thr228Pro) c.697A>C (p.Thr233Pro) n.421A>C c.688A>C (p.Thr230Pro) n.415A>C | |
| 10 | g.100806513A>G | CA378259024 | PAX2 | c.793A>G (p.Thr265Ala) c.769A>G (p.Thr257Ala) c.700A>G (p.Thr234Ala) c.682A>G (p.Thr228Ala) c.697A>G (p.Thr233Ala) n.421A>G c.688A>G (p.Thr230Ala) n.415A>G | |
| 10 | g.100806513A>T | CA378259025 | PAX2 | c.793A>T (p.Thr265Ser) c.769A>T (p.Thr257Ser) c.700A>T (p.Thr234Ser) c.682A>T (p.Thr228Ser) c.697A>T (p.Thr233Ser) n.421A>T c.688A>T (p.Thr230Ser) n.415A>T | |
| 10 | g.100806514C>A | CA378259026 | PAX2 | c.794C>A (p.Thr265Asn) c.770C>A (p.Thr257Asn) c.701C>A (p.Thr234Asn) c.683C>A (p.Thr228Asn) c.698C>A (p.Thr233Asn) n.422C>A c.689C>A (p.Thr230Asn) n.416C>A | |
| 10 | g.100806514C>G | CA378259027 | PAX2 | c.794C>G (p.Thr265Ser) c.770C>G (p.Thr257Ser) c.701C>G (p.Thr234Ser) c.683C>G (p.Thr228Ser) c.698C>G (p.Thr233Ser) n.422C>G c.689C>G (p.Thr230Ser) n.416C>G | |
| 10 | g.100806514C>T | CA378259028 | PAX2 | c.794C>T (p.Thr265Ile) c.770C>T (p.Thr257Ile) c.701C>T (p.Thr234Ile) c.683C>T (p.Thr228Ile) c.698C>T (p.Thr233Ile) n.422C>T c.689C>T (p.Thr230Ile) n.416C>T | |
| 10 | g.100806515C>A | CA471216361 | PAX2 | c.795C>A (p.Thr265=) c.771C>A (p.Thr257=) c.702C>A (p.Thr234=) c.684C>A (p.Thr228=) c.699C>A (p.Thr233=) n.423C>A c.690C>A (p.Thr230=) n.417C>A | |
| 10 | g.100806515C= | CA1931920630 | PAX2 | c.795C= (p.Thr265=) c.771C= (p.Thr257=) c.702C= (p.Thr234=) c.684C= (p.Thr228=) c.699C= (p.Thr233=) n.423C= c.690C= (p.Thr230=) n.417C= | |
| 10 | g.100806515C>G | CA471216360 | PAX2 | c.795C>G (p.Thr265=) c.771C>G (p.Thr257=) c.702C>G (p.Thr234=) c.684C>G (p.Thr228=) c.699C>G (p.Thr233=) n.423C>G c.690C>G (p.Thr230=) n.417C>G | |
| 10 | g.100806515C>T | CA471216359 | PAX2 | c.795C>T (p.Thr265=) c.771C>T (p.Thr257=) c.702C>T (p.Thr234=) c.684C>T (p.Thr228=) c.699C>T (p.Thr233=) n.423C>T c.690C>T (p.Thr230=) n.417C>T | dbSNP |
| 10 | g.100806516C>A | CA378259029 | PAX2 | c.796C>A (p.Gln266Lys) c.772C>A (p.Gln258Lys) c.703C>A (p.Gln235Lys) c.685C>A (p.Gln229Lys) c.700C>A (p.Gln234Lys) n.424C>A c.691C>A (p.Gln231Lys) n.418C>A | |
| 10 | g.100806516C>G | CA378259030 | PAX2 | c.796C>G (p.Gln266Glu) c.772C>G (p.Gln258Glu) c.703C>G (p.Gln235Glu) c.685C>G (p.Gln229Glu) c.700C>G (p.Gln234Glu) n.424C>G c.691C>G (p.Gln231Glu) n.418C>G | |
| 10 | g.100806516C>T | CA378259031 | PAX2 | c.796C>T (p.Gln266Ter) c.772C>T (p.Gln258Ter) c.703C>T (p.Gln235Ter) c.685C>T (p.Gln229Ter) c.700C>T (p.Gln234Ter) n.424C>T c.691C>T (p.Gln231Ter) n.418C>T | |
| 10 | g.100806517A>C | CA378259034 | PAX2 | c.797A>C (p.Gln266Pro) c.773A>C (p.Gln258Pro) c.704A>C (p.Gln235Pro) c.686A>C (p.Gln229Pro) c.701A>C (p.Gln234Pro) n.425A>C c.692A>C (p.Gln231Pro) n.419A>C | |
| 10 | g.100806517A>G | CA378259033 | PAX2 | c.797A>G (p.Gln266Arg) c.773A>G (p.Gln258Arg) c.704A>G (p.Gln235Arg) c.686A>G (p.Gln229Arg) c.701A>G (p.Gln234Arg) n.425A>G c.692A>G (p.Gln231Arg) n.419A>G | |
| 10 | g.100806517A>T | CA378259032 | PAX2 | c.797A>T (p.Gln266Leu) c.773A>T (p.Gln258Leu) c.704A>T (p.Gln235Leu) c.686A>T (p.Gln229Leu) c.701A>T (p.Gln234Leu) n.425A>T c.692A>T (p.Gln231Leu) n.419A>T | |
| 10 | g.100806518G>A | CA471216363 | PAX2 | c.798G>A (p.Gln266=) c.774G>A (p.Gln258=) c.705G>A (p.Gln235=) c.687G>A (p.Gln229=) c.702G>A (p.Gln234=) n.426G>A c.693G>A (p.Gln231=) n.420G>A | |
| 10 | g.100806518G>C | CA378259035 | PAX2 | c.798G>C (p.Gln266His) c.774G>C (p.Gln258His) c.705G>C (p.Gln235His) c.687G>C (p.Gln229His) c.702G>C (p.Gln234His) n.426G>C c.693G>C (p.Gln231His) n.420G>C | |
| 10 | g.100806518G>T | CA378259036 | PAX2 | c.798G>T (p.Gln266His) c.774G>T (p.Gln258His) c.705G>T (p.Gln235His) c.687G>T (p.Gln229His) c.702G>T (p.Gln234His) n.426G>T c.693G>T (p.Gln231His) n.420G>T | |
| 10 | g.100806519C>A | CA378259037 | PAX2 | c.799C>A (p.Gln267Lys) c.775C>A (p.Gln259Lys) c.706C>A (p.Gln236Lys) c.688C>A (p.Gln230Lys) c.703C>A (p.Gln235Lys) n.427C>A c.694C>A (p.Gln232Lys) n.421C>A | ClinVar dbSNP |
| 10 | g.100806519C= | CA1931920631 | PAX2 | c.799C= (p.Gln267=) c.775C= (p.Gln259=) c.706C= (p.Gln236=) c.688C= (p.Gln230=) c.703C= (p.Gln235=) n.427C= c.694C= (p.Gln232=) n.421C= | |
| 10 | g.100806519C>G | CA378259038 | PAX2 | c.799C>G (p.Gln267Glu) c.775C>G (p.Gln259Glu) c.706C>G (p.Gln236Glu) c.688C>G (p.Gln230Glu) c.703C>G (p.Gln235Glu) n.427C>G c.694C>G (p.Gln232Glu) n.421C>G | |
| 10 | g.100806519C>T | CA233171 | PAX2 | c.799C>T (p.Gln267Ter) c.775C>T (p.Gln259Ter) c.706C>T (p.Gln236Ter) c.688C>T (p.Gln230Ter) c.703C>T (p.Gln235Ter) n.427C>T c.694C>T (p.Gln232Ter) n.421C>T | ClinVar dbSNP |
| 10 | g.100806520A>C | CA378259039 | PAX2 | c.800A>C (p.Gln267Pro) c.776A>C (p.Gln259Pro) c.707A>C (p.Gln236Pro) c.689A>C (p.Gln230Pro) c.704A>C (p.Gln235Pro) n.428A>C c.695A>C (p.Gln232Pro) n.422A>C | |
| 10 | g.100806520A>G | CA378259040 | PAX2 | c.800A>G (p.Gln267Arg) c.776A>G (p.Gln259Arg) c.707A>G (p.Gln236Arg) c.689A>G (p.Gln230Arg) c.704A>G (p.Gln235Arg) n.428A>G c.695A>G (p.Gln232Arg) n.422A>G | |
| 10 | g.100806520A>T | CA378259041 | PAX2 | c.800A>T (p.Gln267Leu) c.776A>T (p.Gln259Leu) c.707A>T (p.Gln236Leu) c.689A>T (p.Gln230Leu) c.704A>T (p.Gln235Leu) n.428A>T c.695A>T (p.Gln232Leu) n.422A>T | |
| 10 | g.100806521G>A | CA471216364 | PAX2 | c.801G>A (p.Gln267=) c.777G>A (p.Gln259=) c.708G>A (p.Gln236=) c.690G>A (p.Gln230=) c.705G>A (p.Gln235=) n.429G>A c.696G>A (p.Gln232=) n.423G>A | |
| 10 | g.100806521G>C | CA378259042 | PAX2 | c.801G>C (p.Gln267His) c.777G>C (p.Gln259His) c.708G>C (p.Gln236His) c.690G>C (p.Gln230His) c.705G>C (p.Gln235His) n.429G>C c.696G>C (p.Gln232His) n.423G>C | |
| 10 | g.100806521G>T | CA378259043 | PAX2 | c.801G>T (p.Gln267His) c.777G>T (p.Gln259His) c.708G>T (p.Gln236His) c.690G>T (p.Gln230His) c.705G>T (p.Gln235His) n.429G>T c.696G>T (p.Gln232His) n.423G>T | |
| 10 | g.100806522C>A | CA378259044 | PAX2 | c.802C>A (p.Gln268Lys) c.778C>A (p.Gln260Lys) c.709C>A (p.Gln237Lys) c.691C>A (p.Gln231Lys) c.706C>A (p.Gln236Lys) n.430C>A c.697C>A (p.Gln233Lys) n.424C>A | |
| 10 | g.100806522C>G | CA378259045 | PAX2 | c.802C>G (p.Gln268Glu) c.778C>G (p.Gln260Glu) c.709C>G (p.Gln237Glu) c.691C>G (p.Gln231Glu) c.706C>G (p.Gln236Glu) n.430C>G c.697C>G (p.Gln233Glu) n.424C>G | |
| 10 | g.100806522C>T | CA378259046 | PAX2 | c.802C>T (p.Gln268Ter) c.778C>T (p.Gln260Ter) c.709C>T (p.Gln237Ter) c.691C>T (p.Gln231Ter) c.706C>T (p.Gln236Ter) n.430C>T c.697C>T (p.Gln233Ter) n.424C>T | |
| 10 | g.100806523A>C | CA378259048 | PAX2 | c.803A>C (p.Gln268Pro) c.779A>C (p.Gln260Pro) c.710A>C (p.Gln237Pro) c.692A>C (p.Gln231Pro) c.707A>C (p.Gln236Pro) n.431A>C c.698A>C (p.Gln233Pro) n.425A>C | |
| 10 | g.100806523A>G | CA378259049 | PAX2 | c.803A>G (p.Gln268Arg) c.779A>G (p.Gln260Arg) c.710A>G (p.Gln237Arg) c.692A>G (p.Gln231Arg) c.707A>G (p.Gln236Arg) n.431A>G c.698A>G (p.Gln233Arg) n.425A>G | ClinVar |
| 10 | g.100806523A>T | CA378259047 | PAX2 | c.803A>T (p.Gln268Leu) c.779A>T (p.Gln260Leu) c.710A>T (p.Gln237Leu) c.692A>T (p.Gln231Leu) c.707A>T (p.Gln236Leu) n.431A>T c.698A>T (p.Gln233Leu) n.425A>T | |
| 10 | g.100806524G>A | CA213069712 | PAX2 | c.804G>A (p.Gln268=) c.780G>A (p.Gln260=) c.711G>A (p.Gln237=) c.693G>A (p.Gln231=) c.708G>A (p.Gln236=) n.432G>A c.699G>A (p.Gln233=) n.426G>A | dbSNP gnomAD v4 |
| 10 | g.100806524G>C | CA378259051 | PAX2 | c.804G>C (p.Gln268His) c.780G>C (p.Gln260His) c.711G>C (p.Gln237His) c.693G>C (p.Gln231His) c.708G>C (p.Gln236His) n.432G>C c.699G>C (p.Gln233His) n.426G>C | |
| 10 | g.100806524G= | CA1931920632 | PAX2 | c.804G= (p.Gln268=) c.780G= (p.Gln260=) c.711G= (p.Gln237=) c.693G= (p.Gln231=) c.708G= (p.Gln236=) n.432G= c.699G= (p.Gln233=) n.426G= | |
| 10 | g.100806524G>T | CA378259050 | PAX2 | c.804G>T (p.Gln268His) c.780G>T (p.Gln260His) c.711G>T (p.Gln237His) c.693G>T (p.Gln231His) c.708G>T (p.Gln236His) n.432G>T c.699G>T (p.Gln233His) n.426G>T | dbSNP |
| 10 | g.100806525C>A | CA378259053 | PAX2 | c.805C>A (p.Leu269Met) c.781C>A (p.Leu261Met) c.712C>A (p.Leu238Met) c.694C>A (p.Leu232Met) c.709C>A (p.Leu237Met) n.433C>A c.700C>A (p.Leu234Met) n.427C>A | |
| 10 | g.100806525C= | CA1931920633 | PAX2 | c.805C= (p.Leu269=) c.781C= (p.Leu261=) c.712C= (p.Leu238=) c.694C= (p.Leu232=) c.709C= (p.Leu237=) n.433C= c.700C= (p.Leu234=) n.427C= | |
| 10 | g.100806525C>G | CA378259052 | PAX2 | c.805C>G (p.Leu269Val) c.781C>G (p.Leu261Val) c.712C>G (p.Leu238Val) c.694C>G (p.Leu232Val) c.709C>G (p.Leu237Val) n.433C>G c.700C>G (p.Leu234Val) n.427C>G | |
| 10 | g.100806525C>T | CA471216365 | PAX2 | c.805C>T (p.Leu269=) c.781C>T (p.Leu261=) c.712C>T (p.Leu238=) c.694C>T (p.Leu232=) c.709C>T (p.Leu237=) n.433C>T c.700C>T (p.Leu234=) n.427C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.100806526T>A | CA378259056 | PAX2 | c.806T>A (p.Leu269Gln) c.782T>A (p.Leu261Gln) c.713T>A (p.Leu238Gln) c.695T>A (p.Leu232Gln) c.710T>A (p.Leu237Gln) n.434T>A c.701T>A (p.Leu234Gln) n.428T>A | |
| 10 | g.100806526T>C | CA378259054 | PAX2 | c.806T>C (p.Leu269Pro) c.782T>C (p.Leu261Pro) c.713T>C (p.Leu238Pro) c.695T>C (p.Leu232Pro) c.710T>C (p.Leu237Pro) n.434T>C c.701T>C (p.Leu234Pro) n.428T>C | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.100806526T>G | CA378259055 | PAX2 | c.806T>G (p.Leu269Arg) c.782T>G (p.Leu261Arg) c.713T>G (p.Leu238Arg) c.695T>G (p.Leu232Arg) c.710T>G (p.Leu237Arg) n.434T>G c.701T>G (p.Leu234Arg) n.428T>G | |
| 10 | g.100806526T= | CA1931920634 | PAX2 | c.806T= (p.Leu269=) c.782T= (p.Leu261=) c.713T= (p.Leu238=) c.695T= (p.Leu232=) c.710T= (p.Leu237=) n.434T= c.701T= (p.Leu234=) n.428T= | |
| 10 | g.100806527G>A | CA471216367 | PAX2 | c.807G>A (p.Leu269=) c.783G>A (p.Leu261=) c.714G>A (p.Leu238=) c.696G>A (p.Leu232=) c.711G>A (p.Leu237=) n.435G>A c.702G>A (p.Leu234=) n.429G>A | dbSNP gnomAD v4 |
| 10 | g.100806527G>C | CA471216368 | PAX2 | c.807G>C (p.Leu269=) c.783G>C (p.Leu261=) c.714G>C (p.Leu238=) c.696G>C (p.Leu232=) c.711G>C (p.Leu237=) n.435G>C c.702G>C (p.Leu234=) n.429G>C | |
| 10 | g.100806527G= | CA1931920635 | PAX2 | c.807G= (p.Leu269=) c.783G= (p.Leu261=) c.714G= (p.Leu238=) c.696G= (p.Leu232=) c.711G= (p.Leu237=) n.435G= c.702G= (p.Leu234=) n.429G= | |
| 10 | g.100806527G>T | CA471216369 | PAX2 | c.807G>T (p.Leu269=) c.783G>T (p.Leu261=) c.714G>T (p.Leu238=) c.696G>T (p.Leu232=) c.711G>T (p.Leu237=) n.435G>T c.702G>T (p.Leu234=) n.429G>T | |
| 10 | g.100806528G>A | CA378259057 | PAX2 | c.808G>A (p.Glu270Lys) c.784G>A (p.Glu262Lys) c.715G>A (p.Glu239Lys) c.697G>A (p.Glu233Lys) c.712G>A (p.Glu238Lys) n.436G>A c.703G>A (p.Glu235Lys) n.430G>A | |
| 10 | g.100806528G>C | CA378259058 | PAX2 | c.808G>C (p.Glu270Gln) c.784G>C (p.Glu262Gln) c.715G>C (p.Glu239Gln) c.697G>C (p.Glu233Gln) c.712G>C (p.Glu238Gln) n.436G>C c.703G>C (p.Glu235Gln) n.430G>C | dbSNP |
| 10 | g.100806528G= | CA1931920636 | PAX2 | c.808G= (p.Glu270=) c.784G= (p.Glu262=) c.715G= (p.Glu239=) c.697G= (p.Glu233=) c.712G= (p.Glu238=) n.436G= c.703G= (p.Glu235=) n.430G= | |
| 10 | g.100806528G>T | CA378259059 | PAX2 | c.808G>T (p.Glu270Ter) c.784G>T (p.Glu262Ter) c.715G>T (p.Glu239Ter) c.697G>T (p.Glu233Ter) c.712G>T (p.Glu238Ter) n.436G>T c.703G>T (p.Glu235Ter) n.430G>T | |
| 10 | g.100806529A= | CA1931920637 | PAX2 | c.809A= (p.Glu270=) c.785A= (p.Glu262=) c.716A= (p.Glu239=) c.698A= (p.Glu233=) c.713A= (p.Glu238=) n.437A= c.704A= (p.Glu235=) n.431A= | |
| 10 | g.100806529A>C | CA378259060 | PAX2 | c.809A>C (p.Glu270Ala) c.785A>C (p.Glu262Ala) c.716A>C (p.Glu239Ala) c.698A>C (p.Glu233Ala) c.713A>C (p.Glu238Ala) n.437A>C c.704A>C (p.Glu235Ala) n.431A>C | |
| 10 | g.100806529A>G | CA378259061 | PAX2 | c.809A>G (p.Glu270Gly) c.785A>G (p.Glu262Gly) c.716A>G (p.Glu239Gly) c.698A>G (p.Glu233Gly) c.713A>G (p.Glu238Gly) n.437A>G c.704A>G (p.Glu235Gly) n.431A>G | |
| 10 | g.100806529A>T | CA378259062 | PAX2 | c.809A>T (p.Glu270Val) c.785A>T (p.Glu262Val) c.716A>T (p.Glu239Val) c.698A>T (p.Glu233Val) c.713A>T (p.Glu238Val) n.437A>T c.704A>T (p.Glu235Val) n.431A>T | dbSNP |
| 10 | g.100806530A= | CA1931920638 | PAX2 | c.810A= (p.Glu270=) c.786A= (p.Glu262=) c.717A= (p.Glu239=) c.699A= (p.Glu233=) c.714A= (p.Glu238=) n.438A= c.705A= (p.Glu235=) n.432A= | |
| 10 | g.100806530A>C | CA378259063 | PAX2 | c.810A>C (p.Glu270Asp) c.786A>C (p.Glu262Asp) c.717A>C (p.Glu239Asp) c.699A>C (p.Glu233Asp) c.714A>C (p.Glu238Asp) n.438A>C c.705A>C (p.Glu235Asp) n.432A>C | gnomAD v4 |
| 10 | g.100806530A>G | CA5650833 | PAX2 | c.810A>G (p.Glu270=) c.786A>G (p.Glu262=) c.717A>G (p.Glu239=) c.699A>G (p.Glu233=) c.714A>G (p.Glu238=) n.438A>G c.705A>G (p.Glu235=) n.432A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.100806530A>T | CA378259064 | PAX2 | c.810A>T (p.Glu270Asp) c.786A>T (p.Glu262Asp) c.717A>T (p.Glu239Asp) c.699A>T (p.Glu233Asp) c.714A>T (p.Glu238Asp) n.438A>T c.705A>T (p.Glu235Asp) n.432A>T | |
| 10 | g.100806531G>A | CA378259067 | PAX2 | c.811G>A (p.Ala271Thr) c.787G>A (p.Ala263Thr) c.718G>A (p.Ala240Thr) c.700G>A (p.Ala234Thr) c.715G>A (p.Ala239Thr) n.439G>A c.706G>A (p.Ala236Thr) n.433G>A | |
| 10 | g.100806531G>C | CA378259066 | PAX2 | c.811G>C (p.Ala271Pro) c.787G>C (p.Ala263Pro) c.718G>C (p.Ala240Pro) c.700G>C (p.Ala234Pro) c.715G>C (p.Ala239Pro) n.439G>C c.706G>C (p.Ala236Pro) n.433G>C | |
| 10 | g.100806531G>T | CA378259065 | PAX2 | c.811G>T (p.Ala271Ser) c.787G>T (p.Ala263Ser) c.718G>T (p.Ala240Ser) c.700G>T (p.Ala234Ser) c.715G>T (p.Ala239Ser) n.439G>T c.706G>T (p.Ala236Ser) n.433G>T | |
| 10 | g.100806532C>A | CA378259068 | PAX2 | c.812C>A (p.Ala271Asp) c.788C>A (p.Ala263Asp) c.719C>A (p.Ala240Asp) c.701C>A (p.Ala234Asp) c.716C>A (p.Ala239Asp) n.440C>A c.707C>A (p.Ala236Asp) n.434C>A | |
| 10 | g.100806532C>G | CA378259069 | PAX2 | c.812C>G (p.Ala271Gly) c.788C>G (p.Ala263Gly) c.719C>G (p.Ala240Gly) c.701C>G (p.Ala234Gly) c.716C>G (p.Ala239Gly) n.440C>G c.707C>G (p.Ala236Gly) n.434C>G | |
| 10 | g.100806532C>T | CA378259070 | PAX2 | c.812C>T (p.Ala271Val) c.788C>T (p.Ala263Val) c.719C>T (p.Ala240Val) c.701C>T (p.Ala234Val) c.716C>T (p.Ala239Val) n.440C>T c.707C>T (p.Ala236Val) n.434C>T | |
| 10 | g.100806533T>A | CA471216370 | PAX2 | c.813T>A (p.Ala271=) c.789T>A (p.Ala263=) c.720T>A (p.Ala240=) c.702T>A (p.Ala234=) c.717T>A (p.Ala239=) n.441T>A c.708T>A (p.Ala236=) n.435T>A | |
| 10 | g.100806533T>C | CA471216371 | PAX2 | c.813T>C (p.Ala271=) c.789T>C (p.Ala263=) c.720T>C (p.Ala240=) c.702T>C (p.Ala234=) c.717T>C (p.Ala239=) n.441T>C c.708T>C (p.Ala236=) n.435T>C | |
| 10 | g.100806533T>G | CA471216372 | PAX2 | c.813T>G (p.Ala271=) c.789T>G (p.Ala263=) c.720T>G (p.Ala240=) c.702T>G (p.Ala234=) c.717T>G (p.Ala239=) n.441T>G c.708T>G (p.Ala236=) n.435T>G | |
| 10 | g.100806535del | CA2740093508 | PAX2 | c.815del (p.Leu272TrpfsTer?) c.791del (p.Leu264TrpfsTer?) c.722del (p.Leu241TrpfsTer?) c.704del (p.Leu235TrpfsTer?) c.719del (p.Leu240TrpfsTer?) n.443del c.710del (p.Leu237TrpfsTer?) n.437del | ClinVar |
| 10 | g.100806534T>A | CA378259071 | PAX2 | c.814T>A (p.Leu272Met) c.790T>A (p.Leu264Met) c.721T>A (p.Leu241Met) c.703T>A (p.Leu235Met) c.718T>A (p.Leu240Met) n.442T>A c.709T>A (p.Leu237Met) n.436T>A | |
| 10 | g.100806534T>C | CA471216373 | PAX2 | c.814T>C (p.Leu272=) c.790T>C (p.Leu264=) c.721T>C (p.Leu241=) c.703T>C (p.Leu235=) c.718T>C (p.Leu240=) n.442T>C c.709T>C (p.Leu237=) n.436T>C | |
| 10 | g.100806534T>G | CA378259072 | PAX2 | c.814T>G (p.Leu272Val) c.790T>G (p.Leu264Val) c.721T>G (p.Leu241Val) c.703T>G (p.Leu235Val) c.718T>G (p.Leu240Val) n.442T>G c.709T>G (p.Leu237Val) n.436T>G | |
| 10 | g.100806535T>A | CA378259073 | PAX2 | c.815T>A (p.Leu272Ter) c.791T>A (p.Leu264Ter) c.722T>A (p.Leu241Ter) c.704T>A (p.Leu235Ter) c.719T>A (p.Leu240Ter) n.443T>A c.710T>A (p.Leu237Ter) n.437T>A | |
| 10 | g.100806535T>C | CA378259074 | PAX2 | c.815T>C (p.Leu272Ser) c.791T>C (p.Leu264Ser) c.722T>C (p.Leu241Ser) c.704T>C (p.Leu235Ser) c.719T>C (p.Leu240Ser) n.443T>C c.710T>C (p.Leu237Ser) n.437T>C | |
| 10 | g.100806535T>G | CA378259075 | PAX2 | c.815T>G (p.Leu272Trp) c.791T>G (p.Leu264Trp) c.722T>G (p.Leu241Trp) c.704T>G (p.Leu235Trp) c.719T>G (p.Leu240Trp) n.443T>G c.710T>G (p.Leu237Trp) n.437T>G | |
| 10 | g.100806536G>A | CA471216374 | PAX2 | c.816G>A (p.Leu272=) c.792G>A (p.Leu264=) c.723G>A (p.Leu241=) c.705G>A (p.Leu235=) c.720G>A (p.Leu240=) n.444G>A c.711G>A (p.Leu237=) n.438G>A | |
| 10 | g.100806536G>C | CA378259076 | PAX2 | c.816G>C (p.Leu272Phe) c.792G>C (p.Leu264Phe) c.723G>C (p.Leu241Phe) c.705G>C (p.Leu235Phe) c.720G>C (p.Leu240Phe) n.444G>C c.711G>C (p.Leu237Phe) n.438G>C | |
| 10 | g.100806536G>T | CA378259077 | PAX2 | c.816G>T (p.Leu272Phe) c.792G>T (p.Leu264Phe) c.723G>T (p.Leu241Phe) c.705G>T (p.Leu235Phe) c.720G>T (p.Leu240Phe) n.444G>T c.711G>T (p.Leu237Phe) n.438G>T | |
| 10 | g.100806537G>A | CA378259078 | PAX2 | c.817G>A (p.Asp273Asn) c.793G>A (p.Asp265Asn) c.724G>A (p.Asp242Asn) c.706G>A (p.Asp236Asn) c.721G>A (p.Asp241Asn) n.445G>A c.712G>A (p.Asp238Asn) n.439G>A | gnomAD v4 |
| 10 | g.100806537G>C | CA378259079 | PAX2 | c.817G>C (p.Asp273His) c.793G>C (p.Asp265His) c.724G>C (p.Asp242His) c.706G>C (p.Asp236His) c.721G>C (p.Asp241His) n.445G>C c.712G>C (p.Asp238His) n.439G>C | |
| 10 | g.100806537G>T | CA378259080 | PAX2 | c.817G>T (p.Asp273Tyr) c.793G>T (p.Asp265Tyr) c.724G>T (p.Asp242Tyr) c.706G>T (p.Asp236Tyr) c.721G>T (p.Asp241Tyr) n.445G>T c.712G>T (p.Asp238Tyr) n.439G>T | |
| 10 | g.100806538A>C | CA378259083 | PAX2 | c.818A>C (p.Asp273Ala) c.794A>C (p.Asp265Ala) c.725A>C (p.Asp242Ala) c.707A>C (p.Asp236Ala) c.722A>C (p.Asp241Ala) n.446A>C c.713A>C (p.Asp238Ala) n.440A>C | |
| 10 | g.100806538A>G | CA378259082 | PAX2 | c.818A>G (p.Asp273Gly) c.794A>G (p.Asp265Gly) c.725A>G (p.Asp242Gly) c.707A>G (p.Asp236Gly) c.722A>G (p.Asp241Gly) n.446A>G c.713A>G (p.Asp238Gly) n.440A>G | |
| 10 | g.100806538A>T | CA378259081 | PAX2 | c.818A>T (p.Asp273Val) c.794A>T (p.Asp265Val) c.725A>T (p.Asp242Val) c.707A>T (p.Asp236Val) c.722A>T (p.Asp241Val) n.446A>T c.713A>T (p.Asp238Val) n.440A>T | gnomAD v4 |
| 10 | g.100806539T>A | CA378259085 | PAX2 | c.819T>A (p.Asp273Glu) c.795T>A (p.Asp265Glu) c.726T>A (p.Asp242Glu) c.708T>A (p.Asp236Glu) c.723T>A (p.Asp241Glu) n.447T>A c.714T>A (p.Asp238Glu) n.441T>A | |
| 10 | g.100806539T>C | CA471216375 | PAX2 | c.819T>C (p.Asp273=) c.795T>C (p.Asp265=) c.726T>C (p.Asp242=) c.708T>C (p.Asp236=) c.723T>C (p.Asp241=) n.447T>C c.714T>C (p.Asp238=) n.441T>C | |
| 10 | g.100806539T>G | CA378259084 | PAX2 | c.819T>G (p.Asp273Glu) c.795T>G (p.Asp265Glu) c.726T>G (p.Asp242Glu) c.708T>G (p.Asp236Glu) c.723T>G (p.Asp241Glu) n.447T>G c.714T>G (p.Asp238Glu) n.441T>G | |
| 10 | g.100806540C>A | CA471216376 | PAX2 | c.820C>A (p.Arg274=) c.796C>A (p.Arg266=) c.727C>A (p.Arg243=) c.709C>A (p.Arg237=) c.724C>A (p.Arg242=) n.448C>A c.715C>A (p.Arg239=) n.442C>A | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.100806540C= | CA1931920639 | PAX2 | c.820C= (p.Arg274=) c.796C= (p.Arg266=) c.727C= (p.Arg243=) c.709C= (p.Arg237=) c.724C= (p.Arg242=) n.448C= c.715C= (p.Arg239=) n.442C= | |
| 10 | g.100806540C>G | CA378259086 | PAX2 | c.820C>G (p.Arg274Gly) c.796C>G (p.Arg266Gly) c.727C>G (p.Arg243Gly) c.709C>G (p.Arg237Gly) c.724C>G (p.Arg242Gly) n.448C>G c.715C>G (p.Arg239Gly) n.442C>G | |
| 10 | g.100806540C>T | CA5650834 | PAX2 | c.820C>T (p.Arg274Trp) c.796C>T (p.Arg266Trp) c.727C>T (p.Arg243Trp) c.709C>T (p.Arg237Trp) c.724C>T (p.Arg242Trp) n.448C>T c.715C>T (p.Arg239Trp) n.442C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 10 | g.100806541G>A | CA5650835 | PAX2 | c.821G>A (p.Arg274Gln) c.797G>A (p.Arg266Gln) c.728G>A (p.Arg243Gln) c.710G>A (p.Arg237Gln) c.725G>A (p.Arg242Gln) n.449G>A c.716G>A (p.Arg239Gln) n.443G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.100806541G>C | CA5650836 | PAX2 | c.821G>C (p.Arg274Pro) c.797G>C (p.Arg266Pro) c.728G>C (p.Arg243Pro) c.710G>C (p.Arg237Pro) c.725G>C (p.Arg242Pro) n.449G>C c.716G>C (p.Arg239Pro) n.443G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.100806541G= | CA1931920640 | PAX2 | c.821G= (p.Arg274=) c.797G= (p.Arg266=) c.728G= (p.Arg243=) c.710G= (p.Arg237=) c.725G= (p.Arg242=) n.449G= c.716G= (p.Arg239=) n.443G= | |
| 10 | g.100806541G>T | CA378259087 | PAX2 | c.821G>T (p.Arg274Leu) c.797G>T (p.Arg266Leu) c.728G>T (p.Arg243Leu) c.710G>T (p.Arg237Leu) c.725G>T (p.Arg242Leu) n.449G>T c.716G>T (p.Arg239Leu) n.443G>T | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.100806542G>A | CA471216379 | PAX2 | c.822G>A (p.Arg274=) c.798G>A (p.Arg266=) c.729G>A (p.Arg243=) c.711G>A (p.Arg237=) c.726G>A (p.Arg242=) n.450G>A c.717G>A (p.Arg239=) n.444G>A | dbSNP |
| 10 | g.100806542G>C | CA471216378 | PAX2 | c.822G>C (p.Arg274=) c.798G>C (p.Arg266=) c.729G>C (p.Arg243=) c.711G>C (p.Arg237=) c.726G>C (p.Arg242=) n.450G>C c.717G>C (p.Arg239=) n.444G>C | |
| 10 | g.100806542G>T | CA471216377 | PAX2 | c.822G>T (p.Arg274=) c.798G>T (p.Arg266=) c.729G>T (p.Arg243=) c.711G>T (p.Arg237=) c.726G>T (p.Arg242=) n.450G>T c.717G>T (p.Arg239=) n.444G>T | |
| 10 | g.100806543G>A | CA378259088 | PAX2 | c.823G>A (p.Val275Ile) c.799G>A (p.Val267Ile) c.730G>A (p.Val244Ile) c.712G>A (p.Val238Ile) c.727G>A (p.Val243Ile) n.451G>A c.718G>A (p.Val240Ile) n.445G>A | |
| 10 | g.100806543G>C | CA378259089 | PAX2 | c.823G>C (p.Val275Leu) c.799G>C (p.Val267Leu) c.730G>C (p.Val244Leu) c.712G>C (p.Val238Leu) c.727G>C (p.Val243Leu) n.451G>C c.718G>C (p.Val240Leu) n.445G>C | |
| 10 | g.100806543G>T | CA378259090 | PAX2 | c.823G>T (p.Val275Phe) c.799G>T (p.Val267Phe) c.730G>T (p.Val244Phe) c.712G>T (p.Val238Phe) c.727G>T (p.Val243Phe) n.451G>T c.718G>T (p.Val240Phe) n.445G>T | |
| 10 | g.100806544T>A | CA378259091 | PAX2 | c.824T>A (p.Val275Asp) c.800T>A (p.Val267Asp) c.731T>A (p.Val244Asp) c.713T>A (p.Val238Asp) c.728T>A (p.Val243Asp) n.452T>A c.719T>A (p.Val240Asp) n.446T>A | |
| 10 | g.100806544T>C | CA378259092 | PAX2 | c.824T>C (p.Val275Ala) c.800T>C (p.Val267Ala) c.731T>C (p.Val244Ala) c.713T>C (p.Val238Ala) c.728T>C (p.Val243Ala) n.452T>C c.719T>C (p.Val240Ala) n.446T>C | |
| 10 | g.100806544T>G | CA213069713 | PAX2 | c.824T>G (p.Val275Gly) c.800T>G (p.Val267Gly) c.731T>G (p.Val244Gly) c.713T>G (p.Val238Gly) c.728T>G (p.Val243Gly) n.452T>G c.719T>G (p.Val240Gly) n.446T>G | dbSNP |
| 10 | g.100806544T= | CA1931920641 | PAX2 | c.824T= (p.Val275=) c.800T= (p.Val267=) c.731T= (p.Val244=) c.713T= (p.Val238=) c.728T= (p.Val243=) n.452T= c.719T= (p.Val240=) n.446T= | |
| 10 | g.100806545del | CA2574643905 | PAX2 | c.825del (p.Phe276LeufsTer29) c.801del (p.Phe268LeufsTer29) c.732del (p.Phe245LeufsTer29) c.714del (p.Phe239LeufsTer29) c.729del (p.Phe244LeufsTer29) n.453del c.720del (p.Phe241LeufsTer29) n.447del | |
| 10 | g.100806545C>A | CA471216380 | PAX2 | c.825C>A (p.Val275=) c.801C>A (p.Val267=) c.732C>A (p.Val244=) c.714C>A (p.Val238=) c.729C>A (p.Val243=) n.453C>A c.720C>A (p.Val240=) n.447C>A | |
| 10 | g.100806545C>G | CA471216381 | PAX2 | c.825C>G (p.Val275=) c.801C>G (p.Val267=) c.732C>G (p.Val244=) c.714C>G (p.Val238=) c.729C>G (p.Val243=) n.453C>G c.720C>G (p.Val240=) n.447C>G | |
| 10 | g.100806545C>T | CA471216382 | PAX2 | c.825C>T (p.Val275=) c.801C>T (p.Val267=) c.732C>T (p.Val244=) c.714C>T (p.Val238=) c.729C>T (p.Val243=) n.453C>T c.720C>T (p.Val240=) n.447C>T | ClinVar gnomAD v4 |
| 10 | g.100806546T>A | CA378259094 | PAX2 | c.826T>A (p.Phe276Ile) c.802T>A (p.Phe268Ile) c.733T>A (p.Phe245Ile) c.715T>A (p.Phe239Ile) c.730T>A (p.Phe244Ile) n.454T>A c.721T>A (p.Phe241Ile) n.448T>A | |
| 10 | g.100806546T>C | CA378259095 | PAX2 | c.826T>C (p.Phe276Leu) c.802T>C (p.Phe268Leu) c.733T>C (p.Phe245Leu) c.715T>C (p.Phe239Leu) c.730T>C (p.Phe244Leu) n.454T>C c.721T>C (p.Phe241Leu) n.448T>C | |
| 10 | g.100806546T>G | CA378259093 | PAX2 | c.826T>G (p.Phe276Val) c.802T>G (p.Phe268Val) c.733T>G (p.Phe245Val) c.715T>G (p.Phe239Val) c.730T>G (p.Phe244Val) n.454T>G c.721T>G (p.Phe241Val) n.448T>G | |
| 10 | g.100806547T>A | CA378259096 | PAX2 | c.827T>A (p.Phe276Tyr) c.803T>A (p.Phe268Tyr) c.734T>A (p.Phe245Tyr) c.716T>A (p.Phe239Tyr) c.731T>A (p.Phe244Tyr) n.455T>A c.722T>A (p.Phe241Tyr) n.449T>A | |
| 10 | g.100806547T>C | CA378259097 | PAX2 | c.827T>C (p.Phe276Ser) c.803T>C (p.Phe268Ser) c.734T>C (p.Phe245Ser) c.716T>C (p.Phe239Ser) c.731T>C (p.Phe244Ser) n.455T>C c.722T>C (p.Phe241Ser) n.449T>C | |
| 10 | g.100806547T>G | CA378259098 | PAX2 | c.827T>G (p.Phe276Cys) c.803T>G (p.Phe268Cys) c.734T>G (p.Phe245Cys) c.716T>G (p.Phe239Cys) c.731T>G (p.Phe244Cys) n.455T>G c.722T>G (p.Phe241Cys) n.449T>G | |
| 10 | g.100806548T>A | CA378259099 | PAX2 | c.828T>A (p.Phe276Leu) c.804T>A (p.Phe268Leu) c.735T>A (p.Phe245Leu) c.717T>A (p.Phe239Leu) c.732T>A (p.Phe244Leu) n.456T>A c.723T>A (p.Phe241Leu) n.450T>A | |
| 10 | g.100806548T>C | CA5650837 | PAX2 | c.828T>C (p.Phe276=) c.804T>C (p.Phe268=) c.735T>C (p.Phe245=) c.717T>C (p.Phe239=) c.732T>C (p.Phe244=) n.456T>C c.723T>C (p.Phe241=) n.450T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.100806548T>G | CA378259100 | PAX2 | c.828T>G (p.Phe276Leu) c.804T>G (p.Phe268Leu) c.735T>G (p.Phe245Leu) c.717T>G (p.Phe239Leu) c.732T>G (p.Phe244Leu) n.456T>G c.723T>G (p.Phe241Leu) n.450T>G | |
| 10 | g.100806548T= | CA1931920642 | PAX2 | c.828T= (p.Phe276=) c.804T= (p.Phe268=) c.735T= (p.Phe245=) c.717T= (p.Phe239=) c.732T= (p.Phe244=) n.456T= c.723T= (p.Phe241=) n.450T= | |
| 10 | g.100806549G>A | CA378259101 | PAX2 | c.829G>A (p.Glu277Lys) c.805G>A (p.Glu269Lys) c.736G>A (p.Glu246Lys) c.718G>A (p.Glu240Lys) c.733G>A (p.Glu245Lys) n.457G>A c.724G>A (p.Glu242Lys) n.451G>A | |
| 10 | g.100806549G>C | CA378259103 | PAX2 | c.829G>C (p.Glu277Gln) c.805G>C (p.Glu269Gln) c.736G>C (p.Glu246Gln) c.718G>C (p.Glu240Gln) c.733G>C (p.Glu245Gln) n.457G>C c.724G>C (p.Glu242Gln) n.451G>C | |
| 10 | g.100806549G>T | CA378259102 | PAX2 | c.829G>T (p.Glu277Ter) c.805G>T (p.Glu269Ter) c.736G>T (p.Glu246Ter) c.718G>T (p.Glu240Ter) c.733G>T (p.Glu245Ter) n.457G>T c.724G>T (p.Glu242Ter) n.451G>T | |
| 10 | g.100806550A>C | CA378259104 | PAX2 | c.830A>C (p.Glu277Ala) c.806A>C (p.Glu269Ala) c.737A>C (p.Glu246Ala) c.719A>C (p.Glu240Ala) c.734A>C (p.Glu245Ala) n.458A>C c.725A>C (p.Glu242Ala) n.452A>C | |
| 10 | g.100806550A>G | CA378259105 | PAX2 | c.830A>G (p.Glu277Gly) c.806A>G (p.Glu269Gly) c.737A>G (p.Glu246Gly) c.719A>G (p.Glu240Gly) c.734A>G (p.Glu245Gly) n.458A>G c.725A>G (p.Glu242Gly) n.452A>G | |
| 10 | g.100806550A>T | CA378259106 | PAX2 | c.830A>T (p.Glu277Val) c.806A>T (p.Glu269Val) c.737A>T (p.Glu246Val) c.719A>T (p.Glu240Val) c.734A>T (p.Glu245Val) n.458A>T c.725A>T (p.Glu242Val) n.452A>T | |
| 10 | g.100806551G>A | CA471216383 | PAX2 | c.831G>A (p.Glu277=) c.807G>A (p.Glu269=) c.738G>A (p.Glu246=) c.720G>A (p.Glu240=) c.735G>A (p.Glu245=) n.459G>A c.726G>A (p.Glu242=) n.453G>A | gnomAD v4 |
| 10 | g.100806551G>C | CA378259107 | PAX2 | c.831G>C (p.Glu277Asp) c.807G>C (p.Glu269Asp) c.738G>C (p.Glu246Asp) c.720G>C (p.Glu240Asp) c.735G>C (p.Glu245Asp) n.459G>C c.726G>C (p.Glu242Asp) n.453G>C | |
| 10 | g.100806551G>T | CA378259108 | PAX2 | c.831G>T (p.Glu277Asp) c.807G>T (p.Glu269Asp) c.738G>T (p.Glu246Asp) c.720G>T (p.Glu240Asp) c.735G>T (p.Glu245Asp) n.459G>T c.726G>T (p.Glu242Asp) n.453G>T | |
| 10 | g.100806552C>A | CA5650838 | PAX2 | c.832C>A (p.Arg278Ser) c.808C>A (p.Arg270Ser) c.739C>A (p.Arg247Ser) c.721C>A (p.Arg241Ser) c.736C>A (p.Arg246Ser) n.460C>A c.727C>A (p.Arg243Ser) n.454C>A | dbSNP ExAC gnomAD v4 |
| 10 | g.100806552C= | CA1931920643 | PAX2 | c.832C= (p.Arg278=) c.808C= (p.Arg270=) c.739C= (p.Arg247=) c.721C= (p.Arg241=) c.736C= (p.Arg246=) n.460C= c.727C= (p.Arg243=) n.454C= | |
| 10 | g.100806552C>G | CA378259109 | PAX2 | c.832C>G (p.Arg278Gly) c.808C>G (p.Arg270Gly) c.739C>G (p.Arg247Gly) c.721C>G (p.Arg241Gly) c.736C>G (p.Arg246Gly) n.460C>G c.727C>G (p.Arg243Gly) n.454C>G | gnomAD v4 |
| 10 | g.100806552C>T | CA5650839 | PAX2 | c.832C>T (p.Arg278Cys) c.808C>T (p.Arg270Cys) c.739C>T (p.Arg247Cys) c.721C>T (p.Arg241Cys) c.736C>T (p.Arg246Cys) n.460C>T c.727C>T (p.Arg243Cys) n.454C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 10 | g.100806553G>A | CA5650840 | PAX2 | c.833G>A (p.Arg278His) c.809G>A (p.Arg270His) c.740G>A (p.Arg247His) c.722G>A (p.Arg241His) c.737G>A (p.Arg246His) n.461G>A c.728G>A (p.Arg243His) n.455G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 10 | g.100806553G>C | CA378259111 | PAX2 | c.833G>C (p.Arg278Pro) c.809G>C (p.Arg270Pro) c.740G>C (p.Arg247Pro) c.722G>C (p.Arg241Pro) c.737G>C (p.Arg246Pro) n.461G>C c.728G>C (p.Arg243Pro) n.455G>C | |
| 10 | g.100806553G= | CA1931920644 | PAX2 | c.833G= (p.Arg278=) c.809G= (p.Arg270=) c.740G= (p.Arg247=) c.722G= (p.Arg241=) c.737G= (p.Arg246=) n.461G= c.728G= (p.Arg243=) n.455G= | |
| 10 | g.100806553G>T | CA378259110 | PAX2 | c.833G>T (p.Arg278Leu) c.809G>T (p.Arg270Leu) c.740G>T (p.Arg247Leu) c.722G>T (p.Arg241Leu) c.737G>T (p.Arg246Leu) n.461G>T c.728G>T (p.Arg243Leu) n.455G>T | gnomAD v4 |
| 10 | g.100806554T>A | CA471216384 | PAX2 | c.834T>A (p.Arg278=) c.810T>A (p.Arg270=) c.741T>A (p.Arg247=) c.723T>A (p.Arg241=) c.738T>A (p.Arg246=) n.462T>A c.729T>A (p.Arg243=) n.456T>A | |
| 10 | g.100806554T>C | CA5650841 | PAX2 | c.834T>C (p.Arg278=) c.810T>C (p.Arg270=) c.741T>C (p.Arg247=) c.723T>C (p.Arg241=) c.738T>C (p.Arg246=) n.462T>C c.729T>C (p.Arg243=) n.456T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.100806554T>G | CA471216385 | PAX2 | c.834T>G (p.Arg278=) c.810T>G (p.Arg270=) c.741T>G (p.Arg247=) c.723T>G (p.Arg241=) c.738T>G (p.Arg246=) n.462T>G c.729T>G (p.Arg243=) n.456T>G | dbSNP |
| 10 | g.100806554T= | CA1931920645 | PAX2 | c.834T= (p.Arg278=) c.810T= (p.Arg270=) c.741T= (p.Arg247=) c.723T= (p.Arg241=) c.738T= (p.Arg246=) n.462T= c.729T= (p.Arg243=) n.456T= | |
| 10 | g.100806555C>A | CA378259112 | PAX2 | c.835C>A (p.Pro279Thr) c.811C>A (p.Pro271Thr) c.742C>A (p.Pro248Thr) c.724C>A (p.Pro242Thr) c.739C>A (p.Pro247Thr) n.463C>A c.730C>A (p.Pro244Thr) n.457C>A | |
| 10 | g.100806555C>G | CA378259113 | PAX2 | c.835C>G (p.Pro279Ala) c.811C>G (p.Pro271Ala) c.742C>G (p.Pro248Ala) c.724C>G (p.Pro242Ala) c.739C>G (p.Pro247Ala) n.463C>G c.730C>G (p.Pro244Ala) n.457C>G | |
| 10 | g.100806555C>T | CA378259114 | PAX2 | c.835C>T (p.Pro279Ser) c.811C>T (p.Pro271Ser) c.742C>T (p.Pro248Ser) c.724C>T (p.Pro242Ser) c.739C>T (p.Pro247Ser) n.463C>T c.730C>T (p.Pro244Ser) n.457C>T | gnomAD v4 |
| 10 | g.100806556C>A | CA378259115 | PAX2 | c.836C>A (p.Pro279His) c.812C>A (p.Pro271His) c.743C>A (p.Pro248His) c.725C>A (p.Pro242His) c.740C>A (p.Pro247His) n.464C>A c.731C>A (p.Pro244His) n.458C>A | |
| 10 | g.100806556C= | CA1931920646 | PAX2 | c.836C= (p.Pro279=) c.812C= (p.Pro271=) c.743C= (p.Pro248=) c.725C= (p.Pro242=) c.740C= (p.Pro247=) n.464C= c.731C= (p.Pro244=) n.458C= | |
| 10 | g.100806556C>G | CA378259116 | PAX2 | c.836C>G (p.Pro279Arg) c.812C>G (p.Pro271Arg) c.743C>G (p.Pro248Arg) c.725C>G (p.Pro242Arg) c.740C>G (p.Pro247Arg) n.464C>G c.731C>G (p.Pro244Arg) n.458C>G | |
| 10 | g.100806556C>T | CA378259117 | PAX2 | c.836C>T (p.Pro279Leu) c.812C>T (p.Pro271Leu) c.743C>T (p.Pro248Leu) c.725C>T (p.Pro242Leu) c.740C>T (p.Pro247Leu) n.464C>T c.731C>T (p.Pro244Leu) n.458C>T | dbSNP |
| 10 | g.100806557T>A | CA471216386 | PAX2 | c.837T>A (p.Pro279=) c.813T>A (p.Pro271=) c.744T>A (p.Pro248=) c.726T>A (p.Pro242=) c.741T>A (p.Pro247=) n.465T>A c.732T>A (p.Pro244=) n.459T>A | |
| 10 | g.100806557T>C | CA471216387 | PAX2 | c.837T>C (p.Pro279=) c.813T>C (p.Pro271=) c.744T>C (p.Pro248=) c.726T>C (p.Pro242=) c.741T>C (p.Pro247=) n.465T>C c.732T>C (p.Pro244=) n.459T>C | |
| 10 | g.100806557T>G | CA471216388 | PAX2 | c.837T>G (p.Pro279=) c.813T>G (p.Pro271=) c.744T>G (p.Pro248=) c.726T>G (p.Pro242=) c.741T>G (p.Pro247=) n.465T>G c.732T>G (p.Pro244=) n.459T>G | |
| 10 | g.100806558T>A | CA378259118 | PAX2 | c.838T>A (p.Ser280Thr) c.814T>A (p.Ser272Thr) c.745T>A (p.Ser249Thr) c.727T>A (p.Ser243Thr) c.742T>A (p.Ser248Thr) n.466T>A c.733T>A (p.Ser245Thr) n.460T>A | |
| 10 | g.100806558T>C | CA378259119 | PAX2 | c.838T>C (p.Ser280Pro) c.814T>C (p.Ser272Pro) c.745T>C (p.Ser249Pro) c.727T>C (p.Ser243Pro) c.742T>C (p.Ser248Pro) n.466T>C c.733T>C (p.Ser245Pro) n.460T>C | |
| 10 | g.100806558T>G | CA378259120 | PAX2 | c.838T>G (p.Ser280Ala) c.814T>G (p.Ser272Ala) c.745T>G (p.Ser249Ala) c.727T>G (p.Ser243Ala) c.742T>G (p.Ser248Ala) n.466T>G c.733T>G (p.Ser245Ala) n.460T>G | |
| 10 | g.100806559C>A | CA378259123 | PAX2 | c.839C>A (p.Ser280Tyr) c.815C>A (p.Ser272Tyr) c.746C>A (p.Ser249Tyr) c.728C>A (p.Ser243Tyr) c.743C>A (p.Ser248Tyr) n.467C>A c.734C>A (p.Ser245Tyr) n.461C>A | |
| 10 | g.100806559C>G | CA378259122 | PAX2 | c.839C>G (p.Ser280Cys) c.815C>G (p.Ser272Cys) c.746C>G (p.Ser249Cys) c.728C>G (p.Ser243Cys) c.743C>G (p.Ser248Cys) n.467C>G c.734C>G (p.Ser245Cys) n.461C>G | |
| 10 | g.100806559C>T | CA378259121 | PAX2 | c.839C>T (p.Ser280Phe) c.815C>T (p.Ser272Phe) c.746C>T (p.Ser249Phe) c.728C>T (p.Ser243Phe) c.743C>T (p.Ser248Phe) n.467C>T c.734C>T (p.Ser245Phe) n.461C>T | |
| 10 | g.100806560C>A | CA471216389 | PAX2 | c.840C>A (p.Ser280=) c.816C>A (p.Ser272=) c.747C>A (p.Ser249=) c.729C>A (p.Ser243=) c.744C>A (p.Ser248=) n.468C>A c.735C>A (p.Ser245=) n.462C>A | |
| 10 | g.100806560C>G | CA471216390 | PAX2 | c.840C>G (p.Ser280=) c.816C>G (p.Ser272=) c.747C>G (p.Ser249=) c.729C>G (p.Ser243=) c.744C>G (p.Ser248=) n.468C>G c.735C>G (p.Ser245=) n.462C>G | |
| 10 | g.100806560C>T | CA471216391 | PAX2 | c.840C>T (p.Ser280=) c.816C>T (p.Ser272=) c.747C>T (p.Ser249=) c.729C>T (p.Ser243=) c.744C>T (p.Ser248=) n.468C>T c.735C>T (p.Ser245=) n.462C>T | gnomAD v4 COSMIC COSMIC |
| 10 | g.100806561T>A | CA378259124 | PAX2 | c.841T>A (p.Tyr281Asn) c.817T>A (p.Tyr273Asn) c.748T>A (p.Tyr250Asn) c.730T>A (p.Tyr244Asn) c.745T>A (p.Tyr249Asn) n.469T>A c.736T>A (p.Tyr246Asn) n.463T>A | |
| 10 | g.100806561T>C | CA378259125 | PAX2 | c.841T>C (p.Tyr281His) c.817T>C (p.Tyr273His) c.748T>C (p.Tyr250His) c.730T>C (p.Tyr244His) c.745T>C (p.Tyr249His) n.469T>C c.736T>C (p.Tyr246His) n.463T>C | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.100806561T>G | CA378259126 | PAX2 | c.841T>G (p.Tyr281Asp) c.817T>G (p.Tyr273Asp) c.748T>G (p.Tyr250Asp) c.730T>G (p.Tyr244Asp) c.745T>G (p.Tyr249Asp) n.469T>G c.736T>G (p.Tyr246Asp) n.463T>G | |
| 10 | g.100806561T= | CA1931920647 | PAX2 | c.841T= (p.Tyr281=) c.817T= (p.Tyr273=) c.748T= (p.Tyr250=) c.730T= (p.Tyr244=) c.745T= (p.Tyr249=) n.469T= c.736T= (p.Tyr246=) n.463T= | |
| 10 | g.100806562A>C | CA378259127 | PAX2 | c.842A>C (p.Tyr281Ser) c.818A>C (p.Tyr273Ser) c.749A>C (p.Tyr250Ser) c.731A>C (p.Tyr244Ser) c.746A>C (p.Tyr249Ser) n.470A>C c.737A>C (p.Tyr246Ser) n.464A>C | |
| 10 | g.100806562A>G | CA378259128 | PAX2 | c.842A>G (p.Tyr281Cys) c.818A>G (p.Tyr273Cys) c.749A>G (p.Tyr250Cys) c.731A>G (p.Tyr244Cys) c.746A>G (p.Tyr249Cys) n.470A>G c.737A>G (p.Tyr246Cys) n.464A>G | |
| 10 | g.100806562A>T | CA378259129 | PAX2 | c.842A>T (p.Tyr281Phe) c.818A>T (p.Tyr273Phe) c.749A>T (p.Tyr250Phe) c.731A>T (p.Tyr244Phe) c.746A>T (p.Tyr249Phe) n.470A>T c.737A>T (p.Tyr246Phe) n.464A>T | |
| 10 | g.100806563C>A | CA378259130 | PAX2 | c.843C>A (p.Tyr281Ter) c.819C>A (p.Tyr273Ter) c.750C>A (p.Tyr250Ter) c.732C>A (p.Tyr244Ter) c.747C>A (p.Tyr249Ter) n.471C>A c.738C>A (p.Tyr246Ter) n.465C>A | ClinVar |
| 10 | g.100806563C>G | CA378259131 | PAX2 | c.843C>G (p.Tyr281Ter) c.819C>G (p.Tyr273Ter) c.750C>G (p.Tyr250Ter) c.732C>G (p.Tyr244Ter) c.747C>G (p.Tyr249Ter) n.471C>G c.738C>G (p.Tyr246Ter) n.465C>G | |
| 10 | g.100806563C>T | CA471216392 | PAX2 | c.843C>T (p.Tyr281=) c.819C>T (p.Tyr273=) c.750C>T (p.Tyr250=) c.732C>T (p.Tyr244=) c.747C>T (p.Tyr249=) n.471C>T c.738C>T (p.Tyr246=) n.465C>T | |
| 10 | g.100806565del | CA2695212648 | PAX2 | c.845del (p.Pro282LeufsTer23) c.821del (p.Pro274LeufsTer23) c.752del (p.Pro251LeufsTer23) c.734del (p.Pro245LeufsTer23) c.749del (p.Pro250LeufsTer23) n.473del c.740del (p.Pro247LeufsTer23) n.467del | |
| 10 | g.100806564C>A | CA378259132 | PAX2 | c.844C>A (p.Pro282Thr) c.820C>A (p.Pro274Thr) c.751C>A (p.Pro251Thr) c.733C>A (p.Pro245Thr) c.748C>A (p.Pro250Thr) n.472C>A c.739C>A (p.Pro247Thr) n.466C>A | dbSNP |
| 10 | g.100806564C= | CA1931920648 | PAX2 | c.844C= (p.Pro282=) c.820C= (p.Pro274=) c.751C= (p.Pro251=) c.733C= (p.Pro245=) c.748C= (p.Pro250=) n.472C= c.739C= (p.Pro247=) n.466C= | |
| 10 | g.100806564C>G | CA378259133 | PAX2 | c.844C>G (p.Pro282Ala) c.820C>G (p.Pro274Ala) c.751C>G (p.Pro251Ala) c.733C>G (p.Pro245Ala) c.748C>G (p.Pro250Ala) n.472C>G c.739C>G (p.Pro247Ala) n.466C>G | |
| 10 | g.100806564C>T | CA378259134 | PAX2 | c.844C>T (p.Pro282Ser) c.820C>T (p.Pro274Ser) c.751C>T (p.Pro251Ser) c.733C>T (p.Pro245Ser) c.748C>T (p.Pro250Ser) n.472C>T c.739C>T (p.Pro247Ser) n.466C>T | ClinVar gnomAD v4 |
| 10 | g.100806565C>A | CA378259135 | PAX2 | c.845C>A (p.Pro282His) c.821C>A (p.Pro274His) c.752C>A (p.Pro251His) c.734C>A (p.Pro245His) c.749C>A (p.Pro250His) n.473C>A c.740C>A (p.Pro247His) n.467C>A | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.100806565C= | CA1931920649 | PAX2 | c.845C= (p.Pro282=) c.821C= (p.Pro274=) c.752C= (p.Pro251=) c.734C= (p.Pro245=) c.749C= (p.Pro250=) n.473C= c.740C= (p.Pro247=) n.467C= | |
| 10 | g.100806565C>G | CA378259136 | PAX2 | c.845C>G (p.Pro282Arg) c.821C>G (p.Pro274Arg) c.752C>G (p.Pro251Arg) c.734C>G (p.Pro245Arg) c.749C>G (p.Pro250Arg) n.473C>G c.740C>G (p.Pro247Arg) n.467C>G | |
| 10 | g.100806565C>T | CA5650842 | PAX2 | c.845C>T (p.Pro282Leu) c.821C>T (p.Pro274Leu) c.752C>T (p.Pro251Leu) c.734C>T (p.Pro245Leu) c.749C>T (p.Pro250Leu) n.473C>T c.740C>T (p.Pro247Leu) n.467C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.100806566T>A | CA471216393 | PAX2 | c.846T>A (p.Pro282=) c.822T>A (p.Pro274=) c.753T>A (p.Pro251=) c.735T>A (p.Pro245=) c.750T>A (p.Pro250=) n.474T>A c.741T>A (p.Pro247=) n.468T>A | |
| 10 | g.100806566T>C | CA471216394 | PAX2 | c.846T>C (p.Pro282=) c.822T>C (p.Pro274=) c.753T>C (p.Pro251=) c.735T>C (p.Pro245=) c.750T>C (p.Pro250=) n.474T>C c.741T>C (p.Pro247=) n.468T>C | gnomAD v4 |
| 10 | g.100806566T>G | CA471216395 | PAX2 | c.846T>G (p.Pro282=) c.822T>G (p.Pro274=) c.753T>G (p.Pro251=) c.735T>G (p.Pro245=) c.750T>G (p.Pro250=) n.474T>G c.741T>G (p.Pro247=) n.468T>G | |
| 10 | g.100806569_100806609del | CA2573145450 | PAX2 | c.849_885+4del c.825_861+4del c.756_792+4del c.738_774+4del c.753_789+4del c.744_780+4del n.471_507+4del | ClinVar dbSNP |
| 10 | g.100806567G>A | CA378259137 | PAX2 | c.847G>A (p.Asp283Asn) c.823G>A (p.Asp275Asn) c.754G>A (p.Asp252Asn) c.736G>A (p.Asp246Asn) c.751G>A (p.Asp251Asn) n.475G>A c.742G>A (p.Asp248Asn) n.469G>A | gnomAD v4 |
| 10 | g.100806567G>C | CA378259138 | PAX2 | c.847G>C (p.Asp283His) c.823G>C (p.Asp275His) c.754G>C (p.Asp252His) c.736G>C (p.Asp246His) c.751G>C (p.Asp251His) n.475G>C c.742G>C (p.Asp248His) n.469G>C | |
| 10 | g.100806567G>T | CA378259139 | PAX2 | c.847G>T (p.Asp283Tyr) c.823G>T (p.Asp275Tyr) c.754G>T (p.Asp252Tyr) c.736G>T (p.Asp246Tyr) c.751G>T (p.Asp251Tyr) n.475G>T c.742G>T (p.Asp248Tyr) n.469G>T | |
| 10 | g.100806568A>C | CA378259140 | PAX2 | c.848A>C (p.Asp283Ala) c.824A>C (p.Asp275Ala) c.755A>C (p.Asp252Ala) c.737A>C (p.Asp246Ala) c.752A>C (p.Asp251Ala) n.476A>C c.743A>C (p.Asp248Ala) n.470A>C | |
| 10 | g.100806568A>G | CA378259141 | PAX2 | c.848A>G (p.Asp283Gly) c.824A>G (p.Asp275Gly) c.755A>G (p.Asp252Gly) c.737A>G (p.Asp246Gly) c.752A>G (p.Asp251Gly) n.476A>G c.743A>G (p.Asp248Gly) n.470A>G | COSMIC COSMIC |
| 10 | g.100806568A>T | CA378259142 | PAX2 | c.848A>T (p.Asp283Val) c.824A>T (p.Asp275Val) c.755A>T (p.Asp252Val) c.737A>T (p.Asp246Val) c.752A>T (p.Asp251Val) n.476A>T c.743A>T (p.Asp248Val) n.470A>T | |
| 10 | g.100806569C>A | CA378259143 | PAX2 | c.849C>A (p.Asp283Glu) c.825C>A (p.Asp275Glu) c.756C>A (p.Asp252Glu) c.738C>A (p.Asp246Glu) c.753C>A (p.Asp251Glu) n.477C>A c.744C>A (p.Asp248Glu) n.471C>A | |
| 10 | g.100806569C= | CA1931920650 | PAX2 | c.849C= (p.Asp283=) c.825C= (p.Asp275=) c.756C= (p.Asp252=) c.738C= (p.Asp246=) c.753C= (p.Asp251=) n.477C= c.744C= (p.Asp248=) n.471C= | |
| 10 | g.100806569C>G | CA378259144 | PAX2 | c.849C>G (p.Asp283Glu) c.825C>G (p.Asp275Glu) c.756C>G (p.Asp252Glu) c.738C>G (p.Asp246Glu) c.753C>G (p.Asp251Glu) n.477C>G c.744C>G (p.Asp248Glu) n.471C>G | |
| 10 | g.100806569C>T | CA5650843 | PAX2 | c.849C>T (p.Asp283=) c.825C>T (p.Asp275=) c.756C>T (p.Asp252=) c.738C>T (p.Asp246=) c.753C>T (p.Asp251=) n.477C>T c.744C>T (p.Asp248=) n.471C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.100806569_100806570insAGT | CA2789226883 | PAX2 | c.849_850insAGT (p.Asp283_Val284insSer) c.825_826insAGT (p.Asp275_Val276insSer) c.756_757insAGT (p.Asp252_Val253insSer) c.738_739insAGT (p.Asp246_Val247insSer) c.753_754insAGT (p.Asp251_Val252insSer) n.477_478insAGT c.744_745insAGT (p.Asp248_Val249insSer) n.471_472insAGT | |
| 10 | g.100806570G>A | CA5650844 | PAX2 | c.850G>A (p.Val284Ile) c.826G>A (p.Val276Ile) c.757G>A (p.Val253Ile) c.739G>A (p.Val247Ile) c.754G>A (p.Val252Ile) n.478G>A c.745G>A (p.Val249Ile) n.472G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.100806570G>C | CA378259145 | PAX2 | c.850G>C (p.Val284Leu) c.826G>C (p.Val276Leu) c.757G>C (p.Val253Leu) c.739G>C (p.Val247Leu) c.754G>C (p.Val252Leu) n.478G>C c.745G>C (p.Val249Leu) n.472G>C | |
| 10 | g.100806570G= | CA1931920651 | PAX2 | c.850G= (p.Val284=) c.826G= (p.Val276=) c.757G= (p.Val253=) c.739G= (p.Val247=) c.754G= (p.Val252=) n.478G= c.745G= (p.Val249=) n.472G= | |
| 10 | g.100806570G>T | CA378259146 | PAX2 | c.850G>T (p.Val284Phe) c.826G>T (p.Val276Phe) c.757G>T (p.Val253Phe) c.739G>T (p.Val247Phe) c.754G>T (p.Val252Phe) n.478G>T c.745G>T (p.Val249Phe) n.472G>T | |
| 10 | g.100806571T>A | CA378259148 | PAX2 | c.851T>A (p.Val284Asp) c.827T>A (p.Val276Asp) c.758T>A (p.Val253Asp) c.740T>A (p.Val247Asp) c.755T>A (p.Val252Asp) n.479T>A c.746T>A (p.Val249Asp) n.473T>A | |
| 10 | g.100806571T>C | CA378259149 | PAX2 | c.851T>C (p.Val284Ala) c.827T>C (p.Val276Ala) c.758T>C (p.Val253Ala) c.740T>C (p.Val247Ala) c.755T>C (p.Val252Ala) n.479T>C c.746T>C (p.Val249Ala) n.473T>C | |
| 10 | g.100806571T>G | CA378259147 | PAX2 | c.851T>G (p.Val284Gly) c.827T>G (p.Val276Gly) c.758T>G (p.Val253Gly) c.740T>G (p.Val247Gly) c.755T>G (p.Val252Gly) n.479T>G c.746T>G (p.Val249Gly) n.473T>G | |
| 10 | g.100806572C>A | CA471216396 | PAX2 | c.852C>A (p.Val284=) c.828C>A (p.Val276=) c.759C>A (p.Val253=) c.741C>A (p.Val247=) c.756C>A (p.Val252=) n.480C>A c.747C>A (p.Val249=) n.474C>A | |
| 10 | g.100806572C>G | CA471216397 | PAX2 | c.852C>G (p.Val284=) c.828C>G (p.Val276=) c.759C>G (p.Val253=) c.741C>G (p.Val247=) c.756C>G (p.Val252=) n.480C>G c.747C>G (p.Val249=) n.474C>G | |
| 10 | g.100806572C>T | CA471216398 | PAX2 | c.852C>T (p.Val284=) c.828C>T (p.Val276=) c.759C>T (p.Val253=) c.741C>T (p.Val247=) c.756C>T (p.Val252=) n.480C>T c.747C>T (p.Val249=) n.474C>T | |
| 10 | g.100806573T>A | CA378259150 | PAX2 | c.853T>A (p.Phe285Ile) c.829T>A (p.Phe277Ile) c.760T>A (p.Phe254Ile) c.742T>A (p.Phe248Ile) c.757T>A (p.Phe253Ile) n.481T>A c.748T>A (p.Phe250Ile) n.475T>A | |
| 10 | g.100806573T>C | CA378259151 | PAX2 | c.853T>C (p.Phe285Leu) c.829T>C (p.Phe277Leu) c.760T>C (p.Phe254Leu) c.742T>C (p.Phe248Leu) c.757T>C (p.Phe253Leu) n.481T>C c.748T>C (p.Phe250Leu) n.475T>C | |
| 10 | g.100806573T>G | CA378259152 | PAX2 | c.853T>G (p.Phe285Val) c.829T>G (p.Phe277Val) c.760T>G (p.Phe254Val) c.742T>G (p.Phe248Val) c.757T>G (p.Phe253Val) n.481T>G c.748T>G (p.Phe250Val) n.475T>G | |
| 10 | g.100806574T>A | CA378259153 | PAX2 | c.854T>A (p.Phe285Tyr) c.830T>A (p.Phe277Tyr) c.761T>A (p.Phe254Tyr) c.743T>A (p.Phe248Tyr) c.758T>A (p.Phe253Tyr) n.482T>A c.749T>A (p.Phe250Tyr) n.476T>A | |
| 10 | g.100806574T>C | CA378259154 | PAX2 | c.854T>C (p.Phe285Ser) c.830T>C (p.Phe277Ser) c.761T>C (p.Phe254Ser) c.743T>C (p.Phe248Ser) c.758T>C (p.Phe253Ser) n.482T>C c.749T>C (p.Phe250Ser) n.476T>C | |
| 10 | g.100806574T>G | CA378259155 | PAX2 | c.854T>G (p.Phe285Cys) c.830T>G (p.Phe277Cys) c.761T>G (p.Phe254Cys) c.743T>G (p.Phe248Cys) c.758T>G (p.Phe253Cys) n.482T>G c.749T>G (p.Phe250Cys) n.476T>G | |
| 10 | g.100806575C>A | CA378259156 | PAX2 | c.855C>A (p.Phe285Leu) c.831C>A (p.Phe277Leu) c.762C>A (p.Phe254Leu) c.744C>A (p.Phe248Leu) c.759C>A (p.Phe253Leu) n.483C>A c.750C>A (p.Phe250Leu) n.477C>A | |
| 10 | g.100806575C>G | CA378259157 | PAX2 | c.855C>G (p.Phe285Leu) c.831C>G (p.Phe277Leu) c.762C>G (p.Phe254Leu) c.744C>G (p.Phe248Leu) c.759C>G (p.Phe253Leu) n.483C>G c.750C>G (p.Phe250Leu) n.477C>G | |
| 10 | g.100806575C>T | CA471216399 | PAX2 | c.855C>T (p.Phe285=) c.831C>T (p.Phe277=) c.762C>T (p.Phe254=) c.744C>T (p.Phe248=) c.759C>T (p.Phe253=) n.483C>T c.750C>T (p.Phe250=) n.477C>T | |
| 10 | g.100806576C>A | CA378259158 | PAX2 | c.856C>A (p.Gln286Lys) c.832C>A (p.Gln278Lys) c.763C>A (p.Gln255Lys) c.745C>A (p.Gln249Lys) c.760C>A (p.Gln254Lys) n.484C>A c.751C>A (p.Gln251Lys) n.478C>A | |
| 10 | g.100806576C>G | CA378259159 | PAX2 | c.856C>G (p.Gln286Glu) c.832C>G (p.Gln278Glu) c.763C>G (p.Gln255Glu) c.745C>G (p.Gln249Glu) c.760C>G (p.Gln254Glu) n.484C>G c.751C>G (p.Gln251Glu) n.478C>G | |
| 10 | g.100806576C>T | CA378259160 | PAX2 | c.856C>T (p.Gln286Ter) c.832C>T (p.Gln278Ter) c.763C>T (p.Gln255Ter) c.745C>T (p.Gln249Ter) c.760C>T (p.Gln254Ter) n.484C>T c.751C>T (p.Gln251Ter) n.478C>T | |
| 10 | g.100806577A>C | CA378259161 | PAX2 | c.857A>C (p.Gln286Pro) c.833A>C (p.Gln278Pro) c.764A>C (p.Gln255Pro) c.746A>C (p.Gln249Pro) c.761A>C (p.Gln254Pro) n.485A>C c.752A>C (p.Gln251Pro) n.479A>C | |
| 10 | g.100806577A>G | CA378259162 | PAX2 | c.857A>G (p.Gln286Arg) c.833A>G (p.Gln278Arg) c.764A>G (p.Gln255Arg) c.746A>G (p.Gln249Arg) c.761A>G (p.Gln254Arg) n.485A>G c.752A>G (p.Gln251Arg) n.479A>G | |
| 10 | g.100806577A>T | CA378259163 | PAX2 | c.857A>T (p.Gln286Leu) c.833A>T (p.Gln278Leu) c.764A>T (p.Gln255Leu) c.746A>T (p.Gln249Leu) c.761A>T (p.Gln254Leu) n.485A>T c.752A>T (p.Gln251Leu) n.479A>T | |
| 10 | g.100806578G>A | CA471216400 | PAX2 | c.858G>A (p.Gln286=) c.834G>A (p.Gln278=) c.765G>A (p.Gln255=) c.747G>A (p.Gln249=) c.762G>A (p.Gln254=) n.486G>A c.753G>A (p.Gln251=) n.480G>A | |
| 10 | g.100806578G>C | CA378259164 | PAX2 | c.858G>C (p.Gln286His) c.834G>C (p.Gln278His) c.765G>C (p.Gln255His) c.747G>C (p.Gln249His) c.762G>C (p.Gln254His) n.486G>C c.753G>C (p.Gln251His) n.480G>C | |
| 10 | g.100806578G>T | CA378259165 | PAX2 | c.858G>T (p.Gln286His) c.834G>T (p.Gln278His) c.765G>T (p.Gln255His) c.747G>T (p.Gln249His) c.762G>T (p.Gln254His) n.486G>T c.753G>T (p.Gln251His) n.480G>T | |
| 10 | g.100806579del | CA2573050530 | PAX2 | c.859del (p.Ala287HisfsTer18) c.835del (p.Ala279HisfsTer18) c.766del (p.Ala256HisfsTer18) c.748del (p.Ala250HisfsTer18) c.763del (p.Ala255HisfsTer18) n.487del c.754del (p.Ala252HisfsTer18) n.481del | |
| 10 | g.100806579G>A | CA378259166 | PAX2 | c.859G>A (p.Ala287Thr) c.835G>A (p.Ala279Thr) c.766G>A (p.Ala256Thr) c.748G>A (p.Ala250Thr) c.763G>A (p.Ala255Thr) n.487G>A c.754G>A (p.Ala252Thr) n.481G>A | |
| 10 | g.100806579G>C | CA378259168 | PAX2 | c.859G>C (p.Ala287Pro) c.835G>C (p.Ala279Pro) c.766G>C (p.Ala256Pro) c.748G>C (p.Ala250Pro) c.763G>C (p.Ala255Pro) n.487G>C c.754G>C (p.Ala252Pro) n.481G>C | |
| 10 | g.100806579G= | CA1931920652 | PAX2 | c.859G= (p.Ala287=) c.835G= (p.Ala279=) c.766G= (p.Ala256=) c.748G= (p.Ala250=) c.763G= (p.Ala255=) n.487G= c.754G= (p.Ala252=) n.481G= | |
| 10 | g.100806579G>T | CA378259167 | PAX2 | c.859G>T (p.Ala287Ser) c.835G>T (p.Ala279Ser) c.766G>T (p.Ala256Ser) c.748G>T (p.Ala250Ser) c.763G>T (p.Ala255Ser) n.487G>T c.754G>T (p.Ala252Ser) n.481G>T | dbSNP |
| 10 | g.100806580C>A | CA378259169 | PAX2 | c.860C>A (p.Ala287Glu) c.836C>A (p.Ala279Glu) c.767C>A (p.Ala256Glu) c.749C>A (p.Ala250Glu) c.764C>A (p.Ala255Glu) n.488C>A c.755C>A (p.Ala252Glu) n.482C>A | |
| 10 | g.100806580C= | CA1931920653 | PAX2 | c.860C= (p.Ala287=) c.836C= (p.Ala279=) c.767C= (p.Ala256=) c.749C= (p.Ala250=) c.764C= (p.Ala255=) n.488C= c.755C= (p.Ala252=) n.482C= | |
| 10 | g.100806580C>G | CA378259170 | PAX2 | c.860C>G (p.Ala287Gly) c.836C>G (p.Ala279Gly) c.767C>G (p.Ala256Gly) c.749C>G (p.Ala250Gly) c.764C>G (p.Ala255Gly) n.488C>G c.755C>G (p.Ala252Gly) n.482C>G | |
| 10 | g.100806580C>T | CA5650845 | PAX2 | c.860C>T (p.Ala287Val) c.836C>T (p.Ala279Val) c.767C>T (p.Ala256Val) c.749C>T (p.Ala250Val) c.764C>T (p.Ala255Val) n.488C>T c.755C>T (p.Ala252Val) n.482C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.100806581A= | CA1931920654 | PAX2 | c.861A= (p.Ala287=) c.837A= (p.Ala279=) c.768A= (p.Ala256=) c.750A= (p.Ala250=) c.765A= (p.Ala255=) n.489A= c.756A= (p.Ala252=) n.483A= | |
| 10 | g.100806581A>C | CA471216401 | PAX2 | c.861A>C (p.Ala287=) c.837A>C (p.Ala279=) c.768A>C (p.Ala256=) c.750A>C (p.Ala250=) c.765A>C (p.Ala255=) n.489A>C c.756A>C (p.Ala252=) n.483A>C | |
| 10 | g.100806581A>G | CA471216402 | PAX2 | c.861A>G (p.Ala287=) c.837A>G (p.Ala279=) c.768A>G (p.Ala256=) c.750A>G (p.Ala250=) c.765A>G (p.Ala255=) n.489A>G c.756A>G (p.Ala252=) n.483A>G | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.100806581A>T | CA471216403 | PAX2 | c.861A>T (p.Ala287=) c.837A>T (p.Ala279=) c.768A>T (p.Ala256=) c.750A>T (p.Ala250=) c.765A>T (p.Ala255=) n.489A>T c.756A>T (p.Ala252=) n.483A>T | |
| 10 | g.100806582T>A | CA378259171 | PAX2 | c.862T>A (p.Ser288Thr) c.838T>A (p.Ser280Thr) c.769T>A (p.Ser257Thr) c.751T>A (p.Ser251Thr) c.766T>A (p.Ser256Thr) n.490T>A c.757T>A (p.Ser253Thr) n.484T>A | |
| 10 | g.100806582T>C | CA378259172 | PAX2 | c.862T>C (p.Ser288Pro) c.838T>C (p.Ser280Pro) c.769T>C (p.Ser257Pro) c.751T>C (p.Ser251Pro) c.766T>C (p.Ser256Pro) n.490T>C c.757T>C (p.Ser253Pro) n.484T>C | |
| 10 | g.100806582T>G | CA378259173 | PAX2 | c.862T>G (p.Ser288Ala) c.838T>G (p.Ser280Ala) c.769T>G (p.Ser257Ala) c.751T>G (p.Ser251Ala) c.766T>G (p.Ser256Ala) n.490T>G c.757T>G (p.Ser253Ala) n.484T>G | |
| 10 | g.100806583C>A | CA378259174 | PAX2 | c.863C>A (p.Ser288Ter) c.839C>A (p.Ser280Ter) c.770C>A (p.Ser257Ter) c.752C>A (p.Ser251Ter) c.767C>A (p.Ser256Ter) n.491C>A c.758C>A (p.Ser253Ter) n.485C>A | |
| 10 | g.100806583C= | CA1931920655 | PAX2 | c.863C= (p.Ser288=) c.839C= (p.Ser280=) c.770C= (p.Ser257=) c.752C= (p.Ser251=) c.767C= (p.Ser256=) n.491C= c.758C= (p.Ser253=) n.485C= | |
| 10 | g.100806583C>G | CA378259175 | PAX2 | c.863C>G (p.Ser288Ter) c.839C>G (p.Ser280Ter) c.770C>G (p.Ser257Ter) c.752C>G (p.Ser251Ter) c.767C>G (p.Ser256Ter) n.491C>G c.758C>G (p.Ser253Ter) n.485C>G | |
| 10 | g.100806583C>T | CA378259176 | PAX2 | c.863C>T (p.Ser288Leu) c.839C>T (p.Ser280Leu) c.770C>T (p.Ser257Leu) c.752C>T (p.Ser251Leu) c.767C>T (p.Ser256Leu) n.491C>T c.758C>T (p.Ser253Leu) n.485C>T | dbSNP gnomAD v2 |
| 10 | g.100806584A>C | CA471216406 | PAX2 | c.864A>C (p.Ser288=) c.840A>C (p.Ser280=) c.771A>C (p.Ser257=) c.753A>C (p.Ser251=) c.768A>C (p.Ser256=) n.492A>C c.759A>C (p.Ser253=) n.486A>C | |
| 10 | g.100806584A>G | CA471216404 | PAX2 | c.864A>G (p.Ser288=) c.840A>G (p.Ser280=) c.771A>G (p.Ser257=) c.753A>G (p.Ser251=) c.768A>G (p.Ser256=) n.492A>G c.759A>G (p.Ser253=) n.486A>G | |
| 10 | g.100806584A>T | CA471216405 | PAX2 | c.864A>T (p.Ser288=) c.840A>T (p.Ser280=) c.771A>T (p.Ser257=) c.753A>T (p.Ser251=) c.768A>T (p.Ser256=) n.492A>T c.759A>T (p.Ser253=) n.486A>T | |
| 10 | g.100806585G>A | CA378259177 | PAX2 | c.865G>A (p.Glu289Lys) c.841G>A (p.Glu281Lys) c.772G>A (p.Glu258Lys) c.754G>A (p.Glu252Lys) c.769G>A (p.Glu257Lys) n.493G>A c.760G>A (p.Glu254Lys) n.487G>A | COSMIC COSMIC |
| 10 | g.100806585G>C | CA378259178 | PAX2 | c.865G>C (p.Glu289Gln) c.841G>C (p.Glu281Gln) c.772G>C (p.Glu258Gln) c.754G>C (p.Glu252Gln) c.769G>C (p.Glu257Gln) n.493G>C c.760G>C (p.Glu254Gln) n.487G>C | dbSNP gnomAD v4 |
| 10 | g.100806585G= | CA1931920657 | PAX2 | c.865G= (p.Glu289=) c.841G= (p.Glu281=) c.772G= (p.Glu258=) c.754G= (p.Glu252=) c.769G= (p.Glu257=) n.493G= c.760G= (p.Glu254=) n.487G= | |
| 10 | g.100806585G>T | CA378259179 | PAX2 | c.865G>T (p.Glu289Ter) c.841G>T (p.Glu281Ter) c.772G>T (p.Glu258Ter) c.754G>T (p.Glu252Ter) c.769G>T (p.Glu257Ter) n.493G>T c.760G>T (p.Glu254Ter) n.487G>T | |
| 10 | g.100806586A>C | CA378259182 | PAX2 | c.866A>C (p.Glu289Ala) c.842A>C (p.Glu281Ala) c.773A>C (p.Glu258Ala) c.755A>C (p.Glu252Ala) c.770A>C (p.Glu257Ala) n.494A>C c.761A>C (p.Glu254Ala) n.488A>C | |
| 10 | g.100806586A>G | CA378259181 | PAX2 | c.866A>G (p.Glu289Gly) c.842A>G (p.Glu281Gly) c.773A>G (p.Glu258Gly) c.755A>G (p.Glu252Gly) c.770A>G (p.Glu257Gly) n.494A>G c.761A>G (p.Glu254Gly) n.488A>G | |
| 10 | g.100806586A>T | CA378259180 | PAX2 | c.866A>T (p.Glu289Val) c.842A>T (p.Glu281Val) c.773A>T (p.Glu258Val) c.755A>T (p.Glu252Val) c.770A>T (p.Glu257Val) n.494A>T c.761A>T (p.Glu254Val) n.488A>T | |
| 10 | g.100806587G>A | CA471216407 | PAX2 | c.867G>A (p.Glu289=) c.843G>A (p.Glu281=) c.774G>A (p.Glu258=) c.756G>A (p.Glu252=) c.771G>A (p.Glu257=) n.495G>A c.762G>A (p.Glu254=) n.489G>A | gnomAD v4 |
| 10 | g.100806587G>C | CA378259183 | PAX2 | c.867G>C (p.Glu289Asp) c.843G>C (p.Glu281Asp) c.774G>C (p.Glu258Asp) c.756G>C (p.Glu252Asp) c.771G>C (p.Glu257Asp) n.495G>C c.762G>C (p.Glu254Asp) n.489G>C | dbSNP |
| 10 | g.100806587G>T | CA378259184 | PAX2 | c.867G>T (p.Glu289Asp) c.843G>T (p.Glu281Asp) c.774G>T (p.Glu258Asp) c.756G>T (p.Glu252Asp) c.771G>T (p.Glu257Asp) n.495G>T c.762G>T (p.Glu254Asp) n.489G>T | |
| 10 | g.100806588C>A | CA213069714 | PAX2 | c.868C>A (p.His290Asn) c.844C>A (p.His282Asn) c.775C>A (p.His259Asn) c.757C>A (p.His253Asn) c.772C>A (p.His258Asn) n.496C>A c.763C>A (p.His255Asn) n.490C>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.100806588C= | CA1931920659 | PAX2 | c.868C= (p.His290=) c.844C= (p.His282=) c.775C= (p.His259=) c.757C= (p.His253=) c.772C= (p.His258=) n.496C= c.763C= (p.His255=) n.490C= | |
| 10 | g.100806588C>G | CA378259185 | PAX2 | c.868C>G (p.His290Asp) c.844C>G (p.His282Asp) c.775C>G (p.His259Asp) c.757C>G (p.His253Asp) c.772C>G (p.His258Asp) n.496C>G c.763C>G (p.His255Asp) n.490C>G | |
| 10 | g.100806588C>T | CA378259186 | PAX2 | c.868C>T (p.His290Tyr) c.844C>T (p.His282Tyr) c.775C>T (p.His259Tyr) c.757C>T (p.His253Tyr) c.772C>T (p.His258Tyr) n.496C>T c.763C>T (p.His255Tyr) n.490C>T | dbSNP |
| 10 | g.100806589A= | CA1931920661 | PAX2 | c.869A= (p.His290=) c.845A= (p.His282=) c.776A= (p.His259=) c.758A= (p.His253=) c.773A= (p.His258=) n.497A= c.764A= (p.His255=) n.491A= | |
| 10 | g.100806589A>C | CA378259187 | PAX2 | c.869A>C (p.His290Pro) c.845A>C (p.His282Pro) c.776A>C (p.His259Pro) c.758A>C (p.His253Pro) c.773A>C (p.His258Pro) n.497A>C c.764A>C (p.His255Pro) n.491A>C | gnomAD v4 |
| 10 | g.100806589A>G | CA378259188 | PAX2 | c.869A>G (p.His290Arg) c.845A>G (p.His282Arg) c.776A>G (p.His259Arg) c.758A>G (p.His253Arg) c.773A>G (p.His258Arg) n.497A>G c.764A>G (p.His255Arg) n.491A>G | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.100806589A>T | CA378259189 | PAX2 | c.869A>T (p.His290Leu) c.845A>T (p.His282Leu) c.776A>T (p.His259Leu) c.758A>T (p.His253Leu) c.773A>T (p.His258Leu) n.497A>T c.764A>T (p.His255Leu) n.491A>T | |
| 10 | g.100806590C>A | CA378259190 | PAX2 | c.870C>A (p.His290Gln) c.846C>A (p.His282Gln) c.777C>A (p.His259Gln) c.759C>A (p.His253Gln) c.774C>A (p.His258Gln) n.498C>A c.765C>A (p.His255Gln) n.492C>A | |
| 10 | g.100806590C= | CA1931920663 | PAX2 | c.870C= (p.His290=) c.846C= (p.His282=) c.777C= (p.His259=) c.759C= (p.His253=) c.774C= (p.His258=) n.498C= c.765C= (p.His255=) n.492C= | |
| 10 | g.100806590C>G | CA378259191 | PAX2 | c.870C>G (p.His290Gln) c.846C>G (p.His282Gln) c.777C>G (p.His259Gln) c.759C>G (p.His253Gln) c.774C>G (p.His258Gln) n.498C>G c.765C>G (p.His255Gln) n.492C>G | |
| 10 | g.100806590C>T | CA471216408 | PAX2 | c.870C>T (p.His290=) c.846C>T (p.His282=) c.777C>T (p.His259=) c.759C>T (p.His253=) c.774C>T (p.His258=) n.498C>T c.765C>T (p.His255=) n.492C>T | dbSNP |
| 10 | g.100806591A>C | CA378259192 | PAX2 | c.871A>C (p.Ile291Leu) c.847A>C (p.Ile283Leu) c.778A>C (p.Ile260Leu) c.760A>C (p.Ile254Leu) c.775A>C (p.Ile259Leu) n.499A>C c.766A>C (p.Ile256Leu) n.493A>C | |
| 10 | g.100806591A>G | CA378259193 | PAX2 | c.871A>G (p.Ile291Val) c.847A>G (p.Ile283Val) c.778A>G (p.Ile260Val) c.760A>G (p.Ile254Val) c.775A>G (p.Ile259Val) n.499A>G c.766A>G (p.Ile256Val) n.493A>G | gnomAD v4 |
| 10 | g.100806591A>T | CA378259194 | PAX2 | c.871A>T (p.Ile291Phe) c.847A>T (p.Ile283Phe) c.778A>T (p.Ile260Phe) c.760A>T (p.Ile254Phe) c.775A>T (p.Ile259Phe) n.499A>T c.766A>T (p.Ile256Phe) n.493A>T | |
| 10 | g.100806592T>A | CA378259196 | PAX2 | c.872T>A (p.Ile291Asn) c.848T>A (p.Ile283Asn) c.779T>A (p.Ile260Asn) c.761T>A (p.Ile254Asn) c.776T>A (p.Ile259Asn) n.500T>A c.767T>A (p.Ile256Asn) n.494T>A | gnomAD v4 |
| 10 | g.100806592T>C | CA378259197 | PAX2 | c.872T>C (p.Ile291Thr) c.848T>C (p.Ile283Thr) c.779T>C (p.Ile260Thr) c.761T>C (p.Ile254Thr) c.776T>C (p.Ile259Thr) n.500T>C c.767T>C (p.Ile256Thr) n.494T>C | |
| 10 | g.100806592T>G | CA378259195 | PAX2 | c.872T>G (p.Ile291Ser) c.848T>G (p.Ile283Ser) c.779T>G (p.Ile260Ser) c.761T>G (p.Ile254Ser) c.776T>G (p.Ile259Ser) n.500T>G c.767T>G (p.Ile256Ser) n.494T>G | |
| 10 | g.100806593del | CA2789226884 | PAX2 | c.873del (p.Lys292AsnfsTer13) c.849del (p.Lys284AsnfsTer13) c.780del (p.Lys261AsnfsTer13) c.762del (p.Lys255AsnfsTer13) c.777del (p.Lys260AsnfsTer13) n.501del c.768del (p.Lys257AsnfsTer13) n.495del | |
| 10 | g.100806593C>A | CA471216410 | PAX2 | c.873C>A (p.Ile291=) c.849C>A (p.Ile283=) c.780C>A (p.Ile260=) c.762C>A (p.Ile254=) c.777C>A (p.Ile259=) n.501C>A c.768C>A (p.Ile256=) n.495C>A | |
| 10 | g.100806593C>G | CA378259198 | PAX2 | c.873C>G (p.Ile291Met) c.849C>G (p.Ile283Met) c.780C>G (p.Ile260Met) c.762C>G (p.Ile254Met) c.777C>G (p.Ile259Met) n.501C>G c.768C>G (p.Ile256Met) n.495C>G | |
| 10 | g.100806593C>T | CA471216409 | PAX2 | c.873C>T (p.Ile291=) c.849C>T (p.Ile283=) c.780C>T (p.Ile260=) c.762C>T (p.Ile254=) c.777C>T (p.Ile259=) n.501C>T c.768C>T (p.Ile256=) n.495C>T | COSMIC COSMIC |
| 10 | g.100806594A>C | CA378259199 | PAX2 | c.874A>C (p.Lys292Gln) c.850A>C (p.Lys284Gln) c.781A>C (p.Lys261Gln) c.763A>C (p.Lys255Gln) c.778A>C (p.Lys260Gln) n.502A>C c.769A>C (p.Lys257Gln) n.496A>C | |
| 10 | g.100806594A>G | CA378259200 | PAX2 | c.874A>G (p.Lys292Glu) c.850A>G (p.Lys284Glu) c.781A>G (p.Lys261Glu) c.763A>G (p.Lys255Glu) c.778A>G (p.Lys260Glu) n.502A>G c.769A>G (p.Lys257Glu) n.496A>G | |
| 10 | g.100806594A>T | CA378259201 | PAX2 | c.874A>T (p.Lys292Ter) c.850A>T (p.Lys284Ter) c.781A>T (p.Lys261Ter) c.763A>T (p.Lys255Ter) c.778A>T (p.Lys260Ter) n.502A>T c.769A>T (p.Lys257Ter) n.496A>T | |
| 10 | g.100806595A>C | CA378259202 | PAX2 | c.875A>C (p.Lys292Thr) c.851A>C (p.Lys284Thr) c.782A>C (p.Lys261Thr) c.764A>C (p.Lys255Thr) c.779A>C (p.Lys260Thr) n.503A>C c.770A>C (p.Lys257Thr) n.497A>C | |
| 10 | g.100806595A>G | CA378259203 | PAX2 | c.875A>G (p.Lys292Arg) c.851A>G (p.Lys284Arg) c.782A>G (p.Lys261Arg) c.764A>G (p.Lys255Arg) c.779A>G (p.Lys260Arg) n.503A>G c.770A>G (p.Lys257Arg) n.497A>G | |
| 10 | g.100806595A>T | CA378259204 | PAX2 | c.875A>T (p.Lys292Ile) c.851A>T (p.Lys284Ile) c.782A>T (p.Lys261Ile) c.764A>T (p.Lys255Ile) c.779A>T (p.Lys260Ile) n.503A>T c.770A>T (p.Lys257Ile) n.497A>T | |
| 10 | g.100806596A>C | CA378259205 | PAX2 | c.876A>C (p.Lys292Asn) c.852A>C (p.Lys284Asn) c.783A>C (p.Lys261Asn) c.765A>C (p.Lys255Asn) c.780A>C (p.Lys260Asn) n.504A>C c.771A>C (p.Lys257Asn) n.498A>C | |
| 10 | g.100806596A>G | CA471216411 | PAX2 | c.876A>G (p.Lys292=) c.852A>G (p.Lys284=) c.783A>G (p.Lys261=) c.765A>G (p.Lys255=) c.780A>G (p.Lys260=) n.504A>G c.771A>G (p.Lys257=) n.498A>G | |
| 10 | g.100806596A>T | CA378259206 | PAX2 | c.876A>T (p.Lys292Asn) c.852A>T (p.Lys284Asn) c.783A>T (p.Lys261Asn) c.765A>T (p.Lys255Asn) c.780A>T (p.Lys260Asn) n.504A>T c.771A>T (p.Lys257Asn) n.498A>T | |
| 10 | g.100806597T>A | CA378259207 | PAX2 | c.877T>A (p.Ser293Thr) c.853T>A (p.Ser285Thr) c.784T>A (p.Ser262Thr) c.766T>A (p.Ser256Thr) c.781T>A (p.Ser261Thr) n.505T>A c.772T>A (p.Ser258Thr) n.499T>A | |
| 10 | g.100806597T>C | CA378259208 | PAX2 | c.877T>C (p.Ser293Pro) c.853T>C (p.Ser285Pro) c.784T>C (p.Ser262Pro) c.766T>C (p.Ser256Pro) c.781T>C (p.Ser261Pro) n.505T>C c.772T>C (p.Ser258Pro) n.499T>C | |
| 10 | g.100806597T>G | CA378259209 | PAX2 | c.877T>G (p.Ser293Ala) c.853T>G (p.Ser285Ala) c.784T>G (p.Ser262Ala) c.766T>G (p.Ser256Ala) c.781T>G (p.Ser261Ala) n.505T>G c.772T>G (p.Ser258Ala) n.499T>G | |
| 10 | g.100806598C>A | CA378259212 | PAX2 | c.878C>A (p.Ser293Ter) c.854C>A (p.Ser285Ter) c.785C>A (p.Ser262Ter) c.767C>A (p.Ser256Ter) c.782C>A (p.Ser261Ter) n.506C>A c.773C>A (p.Ser258Ter) n.500C>A | ClinVar dbSNP |
| 10 | g.100806598C>G | CA378259210 | PAX2 | c.878C>G (p.Ser293Ter) c.854C>G (p.Ser285Ter) c.785C>G (p.Ser262Ter) c.767C>G (p.Ser256Ter) c.782C>G (p.Ser261Ter) n.506C>G c.773C>G (p.Ser258Ter) n.500C>G | |
| 10 | g.100806598C>T | CA378259211 | PAX2 | c.878C>T (p.Ser293Leu) c.854C>T (p.Ser285Leu) c.785C>T (p.Ser262Leu) c.767C>T (p.Ser256Leu) c.782C>T (p.Ser261Leu) n.506C>T c.773C>T (p.Ser258Leu) n.500C>T |