Chr Mutation (hg38) CAid Gene Transcript Linkouts
10g.100781316G>ACA471215920PAX2c.660G>A (p.Gly220=)
c.567G>A (p.Gly189=)
c.549G>A (p.Gly183=)
c.564G>A (p.Gly188=)
n.288G>A
c.579G>A (p.Gly193=)
n.282G>A
 COSMIC COSMIC
10g.100781316G>CCA471215921PAX2c.660G>C (p.Gly220=)
c.567G>C (p.Gly189=)
c.549G>C (p.Gly183=)
c.564G>C (p.Gly188=)
n.288G>C
c.579G>C (p.Gly193=)
n.282G>C
10g.100781316G>TCA471215922PAX2c.660G>T (p.Gly220=)
c.567G>T (p.Gly189=)
c.549G>T (p.Gly183=)
c.564G>T (p.Gly188=)
n.288G>T
c.579G>T (p.Gly193=)
n.282G>T
 gnomAD v4
10g.100781316_100781317dupCA2695212570PAX2c.660_661dup (p.Ile221ArgfsTer?)
c.567_568dup (p.Ile190ArgfsTer?)
c.549_550dup (p.Ile184ArgfsTer?)
c.564_565dup (p.Ile189ArgfsTer?)
n.288_289dup
c.579_580dup (p.Ile194ArgfsTer?)
n.282_283dup
10g.100781317A>CCA378258569PAX2c.661A>C (p.Ile221Leu)
c.568A>C (p.Ile190Leu)
c.550A>C (p.Ile184Leu)
c.565A>C (p.Ile189Leu)
n.289A>C
c.580A>C (p.Ile194Leu)
n.283A>C
10g.100781317A>GCA378258570PAX2c.661A>G (p.Ile221Val)
c.568A>G (p.Ile190Val)
c.550A>G (p.Ile184Val)
c.565A>G (p.Ile189Val)
n.289A>G
c.580A>G (p.Ile194Val)
n.283A>G
 gnomAD v4
10g.100781317A>TCA378258571PAX2c.661A>T (p.Ile221Phe)
c.568A>T (p.Ile190Phe)
c.550A>T (p.Ile184Phe)
c.565A>T (p.Ile189Phe)
n.289A>T
c.580A>T (p.Ile194Phe)
n.283A>T
10g.100781318T>ACA378258572PAX2c.662T>A (p.Ile221Asn)
c.569T>A (p.Ile190Asn)
c.551T>A (p.Ile184Asn)
c.566T>A (p.Ile189Asn)
n.290T>A
c.581T>A (p.Ile194Asn)
n.284T>A
10g.100781318T>CCA378258573PAX2c.662T>C (p.Ile221Thr)
c.569T>C (p.Ile190Thr)
c.551T>C (p.Ile184Thr)
c.566T>C (p.Ile189Thr)
n.290T>C
c.581T>C (p.Ile194Thr)
n.284T>C
10g.100781318T>GCA378258574PAX2c.662T>G (p.Ile221Ser)
c.569T>G (p.Ile190Ser)
c.551T>G (p.Ile184Ser)
c.566T>G (p.Ile189Ser)
n.290T>G
c.581T>G (p.Ile194Ser)
n.284T>G
10g.100781319C>ACA471215923PAX2c.663C>A (p.Ile221=)
c.570C>A (p.Ile190=)
c.552C>A (p.Ile184=)
c.567C>A (p.Ile189=)
n.291C>A
c.582C>A (p.Ile194=)
n.285C>A
 gnomAD v4
10g.100781319C>GCA378258575PAX2c.663C>G (p.Ile221Met)
c.570C>G (p.Ile190Met)
c.552C>G (p.Ile184Met)
c.567C>G (p.Ile189Met)
n.291C>G
c.582C>G (p.Ile194Met)
n.285C>G
 gnomAD v4
10g.100781319C>TCA471215924PAX2c.663C>T (p.Ile221=)
c.570C>T (p.Ile190=)
c.552C>T (p.Ile184=)
c.567C>T (p.Ile189=)
n.291C>T
c.582C>T (p.Ile194=)
n.285C>T
10g.100781320C>ACA378258576PAX2c.664C>A (p.Leu222Met)
c.571C>A (p.Leu191Met)
c.553C>A (p.Leu185Met)
c.568C>A (p.Leu190Met)
n.292C>A
c.583C>A (p.Leu195Met)
n.286C>A
10g.100781320C=CA1931936396PAX2c.664C= (p.Leu222=)
c.571C= (p.Leu191=)
c.553C= (p.Leu185=)
c.568C= (p.Leu190=)
n.292C=
c.583C= (p.Leu195=)
n.286C=
10g.100781320C>GCA378258577PAX2c.664C>G (p.Leu222Val)
c.571C>G (p.Leu191Val)
c.553C>G (p.Leu185Val)
c.568C>G (p.Leu190Val)
n.292C>G
c.583C>G (p.Leu195Val)
n.286C>G
10g.100781320C>TCA5650764PAX2c.664C>T (p.Leu222=)
c.571C>T (p.Leu191=)
c.553C>T (p.Leu185=)
c.568C>T (p.Leu190=)
n.292C>T
c.583C>T (p.Leu195=)
n.286C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.100781321T>ACA378258578PAX2c.665T>A (p.Leu222Gln)
c.572T>A (p.Leu191Gln)
c.554T>A (p.Leu185Gln)
c.569T>A (p.Leu190Gln)
n.293T>A
c.584T>A (p.Leu195Gln)
n.287T>A
10g.100781321T>CCA378258579PAX2c.665T>C (p.Leu222Pro)
c.572T>C (p.Leu191Pro)
c.554T>C (p.Leu185Pro)
c.569T>C (p.Leu190Pro)
n.293T>C
c.584T>C (p.Leu195Pro)
n.287T>C
10g.100781321T>GCA378258580PAX2c.665T>G (p.Leu222Arg)
c.572T>G (p.Leu191Arg)
c.554T>G (p.Leu185Arg)
c.569T>G (p.Leu190Arg)
n.293T>G
c.584T>G (p.Leu195Arg)
n.287T>G
10g.100781322G>ACA471215925PAX2c.666G>A (p.Leu222=)
c.573G>A (p.Leu191=)
c.555G>A (p.Leu185=)
c.570G>A (p.Leu190=)
n.294G>A
c.585G>A (p.Leu195=)
n.288G>A
10g.100781322G>CCA471215926PAX2c.666G>C (p.Leu222=)
c.573G>C (p.Leu191=)
c.555G>C (p.Leu185=)
c.570G>C (p.Leu190=)
n.294G>C
c.585G>C (p.Leu195=)
n.288G>C
10g.100781322G>TCA471215927PAX2c.666G>T (p.Leu222=)
c.573G>T (p.Leu191=)
c.555G>T (p.Leu185=)
c.570G>T (p.Leu190=)
n.294G>T
c.585G>T (p.Leu195=)
n.288G>T
10g.100781325delCA2573053222PAX2c.669del (p.Ile224PhefsTer?)
c.576del (p.Ile193PhefsTer?)
c.558del (p.Ile187PhefsTer?)
c.573del (p.Ile192PhefsTer?)
n.297del
c.588del (p.Ile197PhefsTer?)
n.291del
 ClinVar dbSNP
10g.100781323G>ACA378258583PAX2c.667G>A (p.Gly223Arg)
c.574G>A (p.Gly192Arg)
c.556G>A (p.Gly186Arg)
c.571G>A (p.Gly191Arg)
n.295G>A
c.586G>A (p.Gly196Arg)
n.289G>A
 COSMIC COSMIC
10g.100781323G>CCA378258582PAX2c.667G>C (p.Gly223Arg)
c.574G>C (p.Gly192Arg)
c.556G>C (p.Gly186Arg)
c.571G>C (p.Gly191Arg)
n.295G>C
c.586G>C (p.Gly196Arg)
n.289G>C
 ClinVar dbSNP gnomAD v4
10g.100781323G=CA1931936399PAX2c.667G= (p.Gly223=)
c.574G= (p.Gly192=)
c.556G= (p.Gly186=)
c.571G= (p.Gly191=)
n.295G=
c.586G= (p.Gly196=)
n.289G=
10g.100781323G>TCA378258581PAX2c.667G>T (p.Gly223Trp)
c.574G>T (p.Gly192Trp)
c.556G>T (p.Gly186Trp)
c.571G>T (p.Gly191Trp)
n.295G>T
c.586G>T (p.Gly196Trp)
n.289G>T
10g.100781324G>ACA378258586PAX2c.668G>A (p.Gly223Glu)
c.575G>A (p.Gly192Glu)
c.557G>A (p.Gly186Glu)
c.572G>A (p.Gly191Glu)
n.296G>A
c.587G>A (p.Gly196Glu)
n.290G>A
10g.100781324G>CCA378258584PAX2c.668G>C (p.Gly223Ala)
c.575G>C (p.Gly192Ala)
c.557G>C (p.Gly186Ala)
c.572G>C (p.Gly191Ala)
n.296G>C
c.587G>C (p.Gly196Ala)
n.290G>C
10g.100781324G>TCA378258585PAX2c.668G>T (p.Gly223Val)
c.575G>T (p.Gly192Val)
c.557G>T (p.Gly186Val)
c.572G>T (p.Gly191Val)
n.296G>T
c.587G>T (p.Gly196Val)
n.290G>T
10g.100781325G>ACA471215930PAX2c.669G>A (p.Gly223=)
c.576G>A (p.Gly192=)
c.558G>A (p.Gly186=)
c.573G>A (p.Gly191=)
n.297G>A
c.588G>A (p.Gly196=)
n.291G>A
 dbSNP gnomAD v4
10g.100781325G>CCA471215929PAX2c.669G>C (p.Gly223=)
c.576G>C (p.Gly192=)
c.558G>C (p.Gly186=)
c.573G>C (p.Gly191=)
n.297G>C
c.588G>C (p.Gly196=)
n.291G>C
10g.100781325G=CA1931936404PAX2c.669G= (p.Gly223=)
c.576G= (p.Gly192=)
c.558G= (p.Gly186=)
c.573G= (p.Gly191=)
n.297G=
c.588G= (p.Gly196=)
n.291G=
10g.100781325G>TCA471215928PAX2c.669G>T (p.Gly223=)
c.576G>T (p.Gly192=)
c.558G>T (p.Gly186=)
c.573G>T (p.Gly191=)
n.297G>T
c.588G>T (p.Gly196=)
n.291G>T
10g.100781326A>CCA378258587PAX2c.670A>C (p.Ile224Leu)
c.577A>C (p.Ile193Leu)
c.559A>C (p.Ile187Leu)
c.574A>C (p.Ile192Leu)
n.298A>C
c.589A>C (p.Ile197Leu)
n.292A>C
10g.100781326A>GCA378258588PAX2c.670A>G (p.Ile224Val)
c.577A>G (p.Ile193Val)
c.559A>G (p.Ile187Val)
c.574A>G (p.Ile192Val)
n.298A>G
c.589A>G (p.Ile197Val)
n.292A>G
10g.100781326A>TCA378258589PAX2c.670A>T (p.Ile224Phe)
c.577A>T (p.Ile193Phe)
c.559A>T (p.Ile187Phe)
c.574A>T (p.Ile192Phe)
n.298A>T
c.589A>T (p.Ile197Phe)
n.292A>T
 gnomAD v4
10g.100781327T>ACA378258590PAX2c.671T>A (p.Ile224Asn)
c.578T>A (p.Ile193Asn)
c.560T>A (p.Ile187Asn)
c.575T>A (p.Ile192Asn)
n.299T>A
c.590T>A (p.Ile197Asn)
n.293T>A
10g.100781327T>CCA378258591PAX2c.671T>C (p.Ile224Thr)
c.578T>C (p.Ile193Thr)
c.560T>C (p.Ile187Thr)
c.575T>C (p.Ile192Thr)
n.299T>C
c.590T>C (p.Ile197Thr)
n.293T>C
10g.100781327T>GCA378258592PAX2c.671T>G (p.Ile224Ser)
c.578T>G (p.Ile193Ser)
c.560T>G (p.Ile187Ser)
c.575T>G (p.Ile192Ser)
n.299T>G
c.590T>G (p.Ile197Ser)
n.293T>G
10g.100781328T>ACA471215932PAX2c.672T>A (p.Ile224=)
c.579T>A (p.Ile193=)
c.561T>A (p.Ile187=)
c.576T>A (p.Ile192=)
n.300T>A
c.591T>A (p.Ile197=)
n.294T>A
10g.100781328T>CCA471215931PAX2c.672T>C (p.Ile224=)
c.579T>C (p.Ile193=)
c.561T>C (p.Ile187=)
c.576T>C (p.Ile192=)
n.300T>C
c.591T>C (p.Ile197=)
n.294T>C
10g.100781328T>GCA378258593PAX2c.672T>G (p.Ile224Met)
c.579T>G (p.Ile193Met)
c.561T>G (p.Ile187Met)
c.576T>G (p.Ile192Met)
n.300T>G
c.591T>G (p.Ile197Met)
n.294T>G
10g.100781329C>ACA378258594PAX2c.673C>A (p.Pro225Thr)
c.580C>A (p.Pro194Thr)
c.562C>A (p.Pro188Thr)
c.577C>A (p.Pro193Thr)
n.301C>A
c.592C>A (p.Pro198Thr)
n.295C>A
10g.100781329C>GCA378258595PAX2c.673C>G (p.Pro225Ala)
c.580C>G (p.Pro194Ala)
c.562C>G (p.Pro188Ala)
c.577C>G (p.Pro193Ala)
n.301C>G
c.592C>G (p.Pro198Ala)
n.295C>G
10g.100781329C>TCA378258596PAX2c.673C>T (p.Pro225Ser)
c.580C>T (p.Pro194Ser)
c.562C>T (p.Pro188Ser)
c.577C>T (p.Pro193Ser)
n.301C>T
c.592C>T (p.Pro198Ser)
n.295C>T
 gnomAD v4 COSMIC COSMIC
10g.100781330C>ACA378258599PAX2c.674C>A (p.Pro225His)
c.581C>A (p.Pro194His)
c.563C>A (p.Pro188His)
c.578C>A (p.Pro193His)
n.302C>A
c.593C>A (p.Pro198His)
n.296C>A
10g.100781330C>GCA378258598PAX2c.674C>G (p.Pro225Arg)
c.581C>G (p.Pro194Arg)
c.563C>G (p.Pro188Arg)
c.578C>G (p.Pro193Arg)
n.302C>G
c.593C>G (p.Pro198Arg)
n.296C>G
10g.100781330C>TCA378258597PAX2c.674C>T (p.Pro225Leu)
c.581C>T (p.Pro194Leu)
c.563C>T (p.Pro188Leu)
c.578C>T (p.Pro193Leu)
n.302C>T
c.593C>T (p.Pro198Leu)
n.296C>T

Number of alleles fetched