Chr Mutation (hg38) CAid Gene Transcript Linkouts
10g.100806442_100806457delCA658781249PAX2c.722_737del (p.Gly241GlufsTer?)
c.698_713del (p.Gly233GlufsTer?)
c.629_644del (p.Gly210GlufsTer?)
c.611_626del (p.Gly204GlufsTer?)
c.626_641del (p.Gly209GlufsTer?)
n.350_365del
c.617_632del (p.Gly206GlufsTer?)
n.344_359del
10g.100806453A>CCA378258897PAX2c.733A>C (p.Asn245His)
c.709A>C (p.Asn237His)
c.640A>C (p.Asn214His)
c.622A>C (p.Asn208His)
c.637A>C (p.Asn213His)
n.361A>C
c.628A>C (p.Asn210His)
n.355A>C
10g.100806453A>GCA378258898PAX2c.733A>G (p.Asn245Asp)
c.709A>G (p.Asn237Asp)
c.640A>G (p.Asn214Asp)
c.622A>G (p.Asn208Asp)
c.637A>G (p.Asn213Asp)
n.361A>G
c.628A>G (p.Asn210Asp)
n.355A>G
 gnomAD v4
10g.100806453A>TCA378258899PAX2c.733A>T (p.Asn245Tyr)
c.709A>T (p.Asn237Tyr)
c.640A>T (p.Asn214Tyr)
c.622A>T (p.Asn208Tyr)
c.637A>T (p.Asn213Tyr)
n.361A>T
c.628A>T (p.Asn210Tyr)
n.355A>T
10g.100806454A=CA1931920607PAX2c.734A= (p.Asn245=)
c.710A= (p.Asn237=)
c.641A= (p.Asn214=)
c.623A= (p.Asn208=)
c.638A= (p.Asn213=)
n.362A=
c.629A= (p.Asn210=)
n.356A=
10g.100806454A>CCA378258900PAX2c.734A>C (p.Asn245Thr)
c.710A>C (p.Asn237Thr)
c.641A>C (p.Asn214Thr)
c.623A>C (p.Asn208Thr)
c.638A>C (p.Asn213Thr)
n.362A>C
c.629A>C (p.Asn210Thr)
n.356A>C
10g.100806454A>GCA5650823PAX2c.734A>G (p.Asn245Ser)
c.710A>G (p.Asn237Ser)
c.641A>G (p.Asn214Ser)
c.623A>G (p.Asn208Ser)
c.638A>G (p.Asn213Ser)
n.362A>G
c.629A>G (p.Asn210Ser)
n.356A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.100806454A>TCA378258901PAX2c.734A>T (p.Asn245Ile)
c.710A>T (p.Asn237Ile)
c.641A>T (p.Asn214Ile)
c.623A>T (p.Asn208Ile)
c.638A>T (p.Asn213Ile)
n.362A>T
c.629A>T (p.Asn210Ile)
n.356A>T
10g.100806455T>ACA378258902PAX2c.735T>A (p.Asn245Lys)
c.711T>A (p.Asn237Lys)
c.642T>A (p.Asn214Lys)
c.624T>A (p.Asn208Lys)
c.639T>A (p.Asn213Lys)
n.363T>A
c.630T>A (p.Asn210Lys)
n.357T>A
10g.100806455T>CCA471216318PAX2c.735T>C (p.Asn245=)
c.711T>C (p.Asn237=)
c.642T>C (p.Asn214=)
c.624T>C (p.Asn208=)
c.639T>C (p.Asn213=)
n.363T>C
c.630T>C (p.Asn210=)
n.357T>C
 dbSNP gnomAD v2 gnomAD v4
10g.100806455T>GCA378258903PAX2c.735T>G (p.Asn245Lys)
c.711T>G (p.Asn237Lys)
c.642T>G (p.Asn214Lys)
c.624T>G (p.Asn208Lys)
c.639T>G (p.Asn213Lys)
n.363T>G
c.630T>G (p.Asn210Lys)
n.357T>G
 gnomAD v4
10g.100806455T=CA1931920608PAX2c.735T= (p.Asn245=)
c.711T= (p.Asn237=)
c.642T= (p.Asn214=)
c.624T= (p.Asn208=)
c.639T= (p.Asn213=)
n.363T=
c.630T= (p.Asn210=)
n.357T=
10g.100806456G>ACA378258904PAX2c.736G>A (p.Gly246Arg)
c.712G>A (p.Gly238Arg)
c.643G>A (p.Gly215Arg)
c.625G>A (p.Gly209Arg)
c.640G>A (p.Gly214Arg)
n.364G>A
c.631G>A (p.Gly211Arg)
n.358G>A
 gnomAD v4
10g.100806456G>CCA378258905PAX2c.736G>C (p.Gly246Arg)
c.712G>C (p.Gly238Arg)
c.643G>C (p.Gly215Arg)
c.625G>C (p.Gly209Arg)
c.640G>C (p.Gly214Arg)
n.364G>C
c.631G>C (p.Gly211Arg)
n.358G>C
10g.100806456G>TCA378258906PAX2c.736G>T (p.Gly246Ter)
c.712G>T (p.Gly238Ter)
c.643G>T (p.Gly215Ter)
c.625G>T (p.Gly209Ter)
c.640G>T (p.Gly214Ter)
n.364G>T
c.631G>T (p.Gly211Ter)
n.358G>T
10g.100806457G>ACA378258908PAX2c.737G>A (p.Gly246Glu)
c.713G>A (p.Gly238Glu)
c.644G>A (p.Gly215Glu)
c.626G>A (p.Gly209Glu)
c.641G>A (p.Gly214Glu)
n.365G>A
c.632G>A (p.Gly211Glu)
n.359G>A
 gnomAD v4
10g.100806457G>CCA378258909PAX2c.737G>C (p.Gly246Ala)
c.713G>C (p.Gly238Ala)
c.644G>C (p.Gly215Ala)
c.626G>C (p.Gly209Ala)
c.641G>C (p.Gly214Ala)
n.365G>C
c.632G>C (p.Gly211Ala)
n.359G>C
10g.100806457G>TCA378258907PAX2c.737G>T (p.Gly246Val)
c.713G>T (p.Gly238Val)
c.644G>T (p.Gly215Val)
c.626G>T (p.Gly209Val)
c.641G>T (p.Gly214Val)
n.365G>T
c.632G>T (p.Gly211Val)
n.359G>T
10g.100806458A>CCA471216319PAX2c.738A>C (p.Gly246=)
c.714A>C (p.Gly238=)
c.645A>C (p.Gly215=)
c.627A>C (p.Gly209=)
c.642A>C (p.Gly214=)
n.366A>C
c.633A>C (p.Gly211=)
n.360A>C
10g.100806458A>GCA471216320PAX2c.738A>G (p.Gly246=)
c.714A>G (p.Gly238=)
c.645A>G (p.Gly215=)
c.627A>G (p.Gly209=)
c.642A>G (p.Gly214=)
n.366A>G
c.633A>G (p.Gly211=)
n.360A>G
10g.100806458A>TCA471216321PAX2c.738A>T (p.Gly246=)
c.714A>T (p.Gly238=)
c.645A>T (p.Gly215=)
c.627A>T (p.Gly209=)
c.642A>T (p.Gly214=)
n.366A>T
c.633A>T (p.Gly211=)
n.360A>T
10g.100806459G>ACA378258910PAX2c.739G>A (p.Asp247Asn)
c.715G>A (p.Asp239Asn)
c.646G>A (p.Asp216Asn)
c.628G>A (p.Asp210Asn)
c.643G>A (p.Asp215Asn)
n.367G>A
c.634G>A (p.Asp212Asn)
n.361G>A
10g.100806459G>CCA378258911PAX2c.739G>C (p.Asp247His)
c.715G>C (p.Asp239His)
c.646G>C (p.Asp216His)
c.628G>C (p.Asp210His)
c.643G>C (p.Asp215His)
n.367G>C
c.634G>C (p.Asp212His)
n.361G>C
10g.100806459G>TCA378258912PAX2c.739G>T (p.Asp247Tyr)
c.715G>T (p.Asp239Tyr)
c.646G>T (p.Asp216Tyr)
c.628G>T (p.Asp210Tyr)
c.643G>T (p.Asp215Tyr)
n.367G>T
c.634G>T (p.Asp212Tyr)
n.361G>T
10g.100806460A>CCA378258913PAX2c.740A>C (p.Asp247Ala)
c.716A>C (p.Asp239Ala)
c.647A>C (p.Asp216Ala)
c.629A>C (p.Asp210Ala)
c.644A>C (p.Asp215Ala)
n.368A>C
c.635A>C (p.Asp212Ala)
n.362A>C
10g.100806460A>GCA378258914PAX2c.740A>G (p.Asp247Gly)
c.716A>G (p.Asp239Gly)
c.647A>G (p.Asp216Gly)
c.629A>G (p.Asp210Gly)
c.644A>G (p.Asp215Gly)
n.368A>G
c.635A>G (p.Asp212Gly)
n.362A>G
10g.100806460A>TCA378258915PAX2c.740A>T (p.Asp247Val)
c.716A>T (p.Asp239Val)
c.647A>T (p.Asp216Val)
c.629A>T (p.Asp210Val)
c.644A>T (p.Asp215Val)
n.368A>T
c.635A>T (p.Asp212Val)
n.362A>T
10g.100806461T>ACA378258917PAX2c.741T>A (p.Asp247Glu)
c.717T>A (p.Asp239Glu)
c.648T>A (p.Asp216Glu)
c.630T>A (p.Asp210Glu)
c.645T>A (p.Asp215Glu)
n.369T>A
c.636T>A (p.Asp212Glu)
n.363T>A
10g.100806461T>CCA471216322PAX2c.741T>C (p.Asp247=)
c.717T>C (p.Asp239=)
c.648T>C (p.Asp216=)
c.630T>C (p.Asp210=)
c.645T>C (p.Asp215=)
n.369T>C
c.636T>C (p.Asp212=)
n.363T>C
10g.100806461T>GCA378258916PAX2c.741T>G (p.Asp247Glu)
c.717T>G (p.Asp239Glu)
c.648T>G (p.Asp216Glu)
c.630T>G (p.Asp210Glu)
c.645T>G (p.Asp215Glu)
n.369T>G
c.636T>G (p.Asp212Glu)
n.363T>G
 ClinVar dbSNP gnomAD v4
10g.100806461T=CA1931920609PAX2c.741T= (p.Asp247=)
c.717T= (p.Asp239=)
c.648T= (p.Asp216=)
c.630T= (p.Asp210=)
c.645T= (p.Asp215=)
n.369T=
c.636T= (p.Asp212=)
n.363T=
10g.100806462T>ACA378258918PAX2c.742T>A (p.Ser248Thr)
c.718T>A (p.Ser240Thr)
c.649T>A (p.Ser217Thr)
c.631T>A (p.Ser211Thr)
c.646T>A (p.Ser216Thr)
n.370T>A
c.637T>A (p.Ser213Thr)
n.364T>A
10g.100806462T>CCA378258919PAX2c.742T>C (p.Ser248Pro)
c.718T>C (p.Ser240Pro)
c.649T>C (p.Ser217Pro)
c.631T>C (p.Ser211Pro)
c.646T>C (p.Ser216Pro)
n.370T>C
c.637T>C (p.Ser213Pro)
n.364T>C
10g.100806462T>GCA378258920PAX2c.742T>G (p.Ser248Ala)
c.718T>G (p.Ser240Ala)
c.649T>G (p.Ser217Ala)
c.631T>G (p.Ser211Ala)
c.646T>G (p.Ser216Ala)
n.370T>G
c.637T>G (p.Ser213Ala)
n.364T>G
 gnomAD v4
10g.100806463C>ACA213069706PAX2c.743C>A (p.Ser248Tyr)
c.719C>A (p.Ser240Tyr)
c.650C>A (p.Ser217Tyr)
c.632C>A (p.Ser211Tyr)
c.647C>A (p.Ser216Tyr)
n.371C>A
c.638C>A (p.Ser213Tyr)
n.365C>A
 dbSNP gnomAD v4
10g.100806463C=CA1931920610PAX2c.743C= (p.Ser248=)
c.719C= (p.Ser240=)
c.650C= (p.Ser217=)
c.632C= (p.Ser211=)
c.647C= (p.Ser216=)
n.371C=
c.638C= (p.Ser213=)
n.365C=
10g.100806463C>GCA378258921PAX2c.743C>G (p.Ser248Cys)
c.719C>G (p.Ser240Cys)
c.650C>G (p.Ser217Cys)
c.632C>G (p.Ser211Cys)
c.647C>G (p.Ser216Cys)
n.371C>G
c.638C>G (p.Ser213Cys)
n.365C>G
10g.100806463C>TCA378258922PAX2c.743C>T (p.Ser248Phe)
c.719C>T (p.Ser240Phe)
c.650C>T (p.Ser217Phe)
c.632C>T (p.Ser211Phe)
c.647C>T (p.Ser216Phe)
n.371C>T
c.638C>T (p.Ser213Phe)
n.365C>T
10g.100806464C>ACA471216323PAX2c.744C>A (p.Ser248=)
c.720C>A (p.Ser240=)
c.651C>A (p.Ser217=)
c.633C>A (p.Ser211=)
c.648C>A (p.Ser216=)
n.372C>A
c.639C>A (p.Ser213=)
n.366C>A
10g.100806464C>GCA471216325PAX2c.744C>G (p.Ser248=)
c.720C>G (p.Ser240=)
c.651C>G (p.Ser217=)
c.633C>G (p.Ser211=)
c.648C>G (p.Ser216=)
n.372C>G
c.639C>G (p.Ser213=)
n.366C>G
10g.100806464C>TCA471216324PAX2c.744C>T (p.Ser248=)
c.720C>T (p.Ser240=)
c.651C>T (p.Ser217=)
c.633C>T (p.Ser211=)
c.648C>T (p.Ser216=)
n.372C>T
c.639C>T (p.Ser213=)
n.366C>T
10g.100806465C>ACA378258923PAX2c.745C>A (p.Gln249Lys)
c.721C>A (p.Gln241Lys)
c.652C>A (p.Gln218Lys)
c.634C>A (p.Gln212Lys)
c.649C>A (p.Gln217Lys)
n.373C>A
c.640C>A (p.Gln214Lys)
n.367C>A
10g.100806465C>GCA378258925PAX2c.745C>G (p.Gln249Glu)
c.721C>G (p.Gln241Glu)
c.652C>G (p.Gln218Glu)
c.634C>G (p.Gln212Glu)
c.649C>G (p.Gln217Glu)
n.373C>G
c.640C>G (p.Gln214Glu)
n.367C>G
10g.100806465C>TCA378258924PAX2c.745C>T (p.Gln249Ter)
c.721C>T (p.Gln241Ter)
c.652C>T (p.Gln218Ter)
c.634C>T (p.Gln212Ter)
c.649C>T (p.Gln217Ter)
n.373C>T
c.640C>T (p.Gln214Ter)
n.367C>T
10g.100806466A>CCA378258926PAX2c.746A>C (p.Gln249Pro)
c.722A>C (p.Gln241Pro)
c.653A>C (p.Gln218Pro)
c.635A>C (p.Gln212Pro)
c.650A>C (p.Gln217Pro)
n.374A>C
c.641A>C (p.Gln214Pro)
n.368A>C
10g.100806466A>GCA378258927PAX2c.746A>G (p.Gln249Arg)
c.722A>G (p.Gln241Arg)
c.653A>G (p.Gln218Arg)
c.635A>G (p.Gln212Arg)
c.650A>G (p.Gln217Arg)
n.374A>G
c.641A>G (p.Gln214Arg)
n.368A>G
10g.100806466A>TCA378258928PAX2c.746A>T (p.Gln249Leu)
c.722A>T (p.Gln241Leu)
c.653A>T (p.Gln218Leu)
c.635A>T (p.Gln212Leu)
c.650A>T (p.Gln217Leu)
n.374A>T
c.641A>T (p.Gln214Leu)
n.368A>T
10g.100806467G>ACA471216326PAX2c.747G>A (p.Gln249=)
c.723G>A (p.Gln241=)
c.654G>A (p.Gln218=)
c.636G>A (p.Gln212=)
c.651G>A (p.Gln217=)
n.375G>A
c.642G>A (p.Gln214=)
n.369G>A
10g.100806467G>CCA378258929PAX2c.747G>C (p.Gln249His)
c.723G>C (p.Gln241His)
c.654G>C (p.Gln218His)
c.636G>C (p.Gln212His)
c.651G>C (p.Gln217His)
n.375G>C
c.642G>C (p.Gln214His)
n.369G>C
 dbSNP gnomAD v4 COSMIC COSMIC
10g.100806467G=CA1931920611PAX2c.747G= (p.Gln249=)
c.723G= (p.Gln241=)
c.654G= (p.Gln218=)
c.636G= (p.Gln212=)
c.651G= (p.Gln217=)
n.375G=
c.642G= (p.Gln214=)
n.369G=

Number of alleles fetched