Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.127613804G>ACA123479PAX4c.514C>T (p.Arg172Trp)
c.490C>T (p.Arg164Trp)
c.484C>T (p.Arg162Trp)
n.484C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
7g.127613804G>CCA369174442PAX4c.514C>G (p.Arg172Gly)
c.490C>G (p.Arg164Gly)
c.484C>G (p.Arg162Gly)
n.484C>G
 gnomAD v4
7g.127613804G=CA1742009456PAX4c.514C= (p.Arg172=)
c.490C= (p.Arg164=)
c.484C= (p.Arg162=)
n.484C=
7g.127613804G>TCA457524955PAX4c.514C>A (p.Arg172=)
c.490C>A (p.Arg164=)
c.484C>A (p.Arg162=)
n.484C>A
 gnomAD v4
7g.127613805G>ACA166113065PAX4c.513C>T (p.His171=)
c.489C>T (p.His163=)
c.483C>T (p.His161=)
n.483C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
7g.127613805G>CCA369174444PAX4c.513C>G (p.His171Gln)
c.489C>G (p.His163Gln)
c.483C>G (p.His161Gln)
n.483C>G
7g.127613805G=CA1742009461PAX4c.513C= (p.His171=)
c.489C= (p.His163=)
c.483C= (p.His161=)
n.483C=
7g.127613805G>TCA369174446PAX4c.513C>A (p.His171Gln)
c.489C>A (p.His163Gln)
c.483C>A (p.His161Gln)
n.483C>A
 gnomAD v4 COSMIC COSMIC
7g.127613806T>ACA369174448PAX4c.512A>T (p.His171Leu)
c.488A>T (p.His163Leu)
c.482A>T (p.His161Leu)
n.482A>T
7g.127613806T>CCA369174450PAX4c.512A>G (p.His171Arg)
c.488A>G (p.His163Arg)
c.482A>G (p.His161Arg)
n.482A>G
 dbSNP gnomAD v2 gnomAD v4
7g.127613806T>GCA369174452PAX4c.512A>C (p.His171Pro)
c.488A>C (p.His163Pro)
c.482A>C (p.His161Pro)
n.482A>C
7g.127613806T=CA1742009463PAX4c.512A= (p.His171=)
c.488A= (p.His163=)
c.482A= (p.His161=)
n.482A=
7g.127613807G>ACA369174454PAX4c.511C>T (p.His171Tyr)
c.487C>T (p.His163Tyr)
c.481C>T (p.His161Tyr)
n.481C>T
 ClinVar dbSNP
7g.127613807G>CCA369174456PAX4c.511C>G (p.His171Asp)
c.487C>G (p.His163Asp)
c.481C>G (p.His161Asp)
n.481C>G
7g.127613807G>TCA369174458PAX4c.511C>A (p.His171Asn)
c.487C>A (p.His163Asn)
c.481C>A (p.His161Asn)
n.481C>A
7g.127613808G>ACA457524956PAX4c.510C>T (p.Gly170=)
c.486C>T (p.Gly162=)
c.480C>T (p.Gly160=)
n.480C>T
7g.127613808G>CCA457524957PAX4c.510C>G (p.Gly170=)
c.486C>G (p.Gly162=)
c.480C>G (p.Gly160=)
n.480C>G
7g.127613808G>TCA457524958PAX4c.510C>A (p.Gly170=)
c.486C>A (p.Gly162=)
c.480C>A (p.Gly160=)
n.480C>A
7g.127613809C>ACA369174460PAX4c.509G>T (p.Gly170Val)
c.485G>T (p.Gly162Val)
c.479G>T (p.Gly160Val)
n.479G>T
7g.127613809C=CA1742009468PAX4c.509G= (p.Gly170=)
c.485G= (p.Gly162=)
c.479G= (p.Gly160=)
n.479G=
7g.127613809C>GCA166113066PAX4c.509G>C (p.Gly170Ala)
c.485G>C (p.Gly162Ala)
c.479G>C (p.Gly160Ala)
n.479G>C
 dbSNP
7g.127613809C>TCA369174462PAX4c.509G>A (p.Gly170Asp)
c.485G>A (p.Gly162Asp)
c.479G>A (p.Gly160Asp)
n.479G>A
 dbSNP gnomAD v3 gnomAD v4
7g.127613810C>ACA369174463PAX4c.508G>T (p.Gly170Cys)
c.484G>T (p.Gly162Cys)
c.478G>T (p.Gly160Cys)
n.478G>T
7g.127613810C=CA1742009469PAX4c.508G= (p.Gly170=)
c.484G= (p.Gly162=)
c.478G= (p.Gly160=)
n.478G=
7g.127613810C>GCA369174464PAX4c.508G>C (p.Gly170Arg)
c.484G>C (p.Gly162Arg)
c.478G>C (p.Gly160Arg)
n.478G>C
7g.127613810C>TCA369174466PAX4c.508G>A (p.Gly170Ser)
c.484G>A (p.Gly162Ser)
c.478G>A (p.Gly160Ser)
n.478G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
7g.127613811G>ACA4468060PAX4c.507C>T (p.Thr169=)
c.483C>T (p.Thr161=)
c.477C>T (p.Thr159=)
n.477C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.127613811G>CCA4468061PAX4c.507C>G (p.Thr169=)
c.483C>G (p.Thr161=)
c.477C>G (p.Thr159=)
n.477C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.127613811G=CA1742009473PAX4c.507C= (p.Thr169=)
c.483C= (p.Thr161=)
c.477C= (p.Thr159=)
n.477C=
7g.127613811G>TCA4468059PAX4c.507C>A (p.Thr169=)
c.483C>A (p.Thr161=)
c.477C>A (p.Thr159=)
n.477C>A
 dbSNP ExAC
7g.127613812G>ACA369174472PAX4c.506C>T (p.Thr169Ile)
c.482C>T (p.Thr161Ile)
c.476C>T (p.Thr159Ile)
n.476C>T
 gnomAD v4
7g.127613812G>CCA369174474PAX4c.506C>G (p.Thr169Ser)
c.482C>G (p.Thr161Ser)
c.476C>G (p.Thr159Ser)
n.476C>G
7g.127613812G>TCA369174476PAX4c.506C>A (p.Thr169Asn)
c.482C>A (p.Thr161Asn)
c.476C>A (p.Thr159Asn)
n.476C>A
7g.127613813T>ACA369174478PAX4c.505A>T (p.Thr169Ser)
c.481A>T (p.Thr161Ser)
c.475A>T (p.Thr159Ser)
n.475A>T
7g.127613813T>CCA369174480PAX4c.505A>G (p.Thr169Ala)
c.481A>G (p.Thr161Ala)
c.475A>G (p.Thr159Ala)
n.475A>G
 dbSNP
7g.127613813T>GCA369174481PAX4c.505A>C (p.Thr169Pro)
c.481A>C (p.Thr161Pro)
c.475A>C (p.Thr159Pro)
n.475A>C
7g.127613814C>ACA457524959PAX4c.504G>T (p.Gly168=)
c.480G>T (p.Gly160=)
c.474G>T (p.Gly158=)
n.474G>T
7g.127613814C>GCA457524960PAX4c.504G>C (p.Gly168=)
c.480G>C (p.Gly160=)
c.474G>C (p.Gly158=)
n.474G>C
7g.127613814C>TCA457524961PAX4c.504G>A (p.Gly168=)
c.480G>A (p.Gly160=)
c.474G>A (p.Gly158=)
n.474G>A
7g.127613816delCA2684749156PAX4c.504del (p.Thr169ProfsTer?)
c.480del (p.Thr161ProfsTer?)
c.474del (p.Thr159ProfsTer?)
n.474del
 gnomAD v4
7g.127613815C>ACA369174482PAX4c.503G>T (p.Gly168Val)
c.479G>T (p.Gly160Val)
c.473G>T (p.Gly158Val)
n.473G>T
7g.127613815C=CA1742009478PAX4c.503G= (p.Gly168=)
c.479G= (p.Gly160=)
c.473G= (p.Gly158=)
n.473G=
7g.127613815C>GCA369174484PAX4c.503G>C (p.Gly168Ala)
c.479G>C (p.Gly160Ala)
c.473G>C (p.Gly158Ala)
n.473G>C
 gnomAD v4
7g.127613815C>TCA4468062PAX4c.503G>A (p.Gly168Glu)
c.479G>A (p.Gly160Glu)
c.473G>A (p.Gly158Glu)
n.473G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.127613816C>ACA369174487PAX4c.502G>T (p.Gly168Trp)
c.478G>T (p.Gly160Trp)
c.472G>T (p.Gly158Trp)
n.472G>T
7g.127613816C>GCA369174488PAX4c.502G>C (p.Gly168Arg)
c.478G>C (p.Gly160Arg)
c.472G>C (p.Gly158Arg)
n.472G>C
7g.127613816C>TCA369174491PAX4c.502G>A (p.Gly168Arg)
c.478G>A (p.Gly160Arg)
c.472G>A (p.Gly158Arg)
n.472G>A
7g.127613817T>ACA457524962PAX4c.501A>T (p.Pro167=)
c.477A>T (p.Pro159=)
c.471A>T (p.Pro157=)
n.471A>T
7g.127613817T>CCA4468063PAX4c.501A>G (p.Pro167=)
c.477A>G (p.Pro159=)
c.471A>G (p.Pro157=)
n.471A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.127613817T>GCA457524963PAX4c.501A>C (p.Pro167=)
c.477A>C (p.Pro159=)
c.471A>C (p.Pro157=)
n.471A>C

Number of alleles fetched