Chr Mutation (hg38) CAid Gene Transcript Linkouts
14g.36663464C>ACA389467107PAX9c.572C>A (p.Thr191Asn)
c.11C>A (p.Thr4Asn)
gnomAD v4
14g.36663464C>GCA389467106PAX9c.572C>G (p.Thr191Ser)
c.11C>G (p.Thr4Ser)
14g.36663464C>TCA389467105PAX9c.572C>T (p.Thr191Ile)
c.11C>T (p.Thr4Ile)
gnomAD v4
14g.36663465C>ACA485930886PAX9c.573C>A (p.Thr191=)
c.12C>A (p.Thr4=)
14g.36663465C>GCA485930887PAX9c.573C>G (p.Thr191=)
c.12C>G (p.Thr4=)
14g.36663465C>TCA485930888PAX9c.573C>T (p.Thr191=)
c.12C>T (p.Thr4=)
14g.36663466T>ACA389467108PAX9c.574T>A (p.Trp192Arg)
c.13T>A (p.Trp5Arg)
14g.36663466T>CCA7159000PAX9c.574T>C (p.Trp192Arg)
c.13T>C (p.Trp5Arg)
dbSNP ExAC gnomAD v2 gnomAD v4
14g.36663466T>GCA389467109PAX9c.574T>G (p.Trp192Gly)
c.13T>G (p.Trp5Gly)
14g.36663466T=CA2129502976PAX9c.574T= (p.Trp192=)
c.13T= (p.Trp5=)
14g.36663467G>ACA389467110PAX9c.575G>A (p.Trp192Ter)
c.14G>A (p.Trp5Ter)
14g.36663467G>CCA258926772PAX9c.575G>C (p.Trp192Ser)
c.14G>C (p.Trp5Ser)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.36663467G=CA2129502979PAX9c.575G= (p.Trp192=)
c.14G= (p.Trp5=)
14g.36663467G>TCA389467111PAX9c.575G>T (p.Trp192Leu)
c.14G>T (p.Trp5Leu)
14g.36663468G>ACA389467112PAX9c.576G>A (p.Trp192Ter)
c.15G>A (p.Trp5Ter)
14g.36663468G>CCA389467113PAX9c.576G>C (p.Trp192Cys)
c.15G>C (p.Trp5Cys)
14g.36663468G>TCA389467114PAX9c.576G>T (p.Trp192Cys)
c.15G>T (p.Trp5Cys)
gnomAD v4
14g.36663469C>ACA389467115PAX9c.577C>A (p.Pro193Thr)
c.16C>A (p.Pro6Thr)
14g.36663469C=CA2129502982PAX9c.577C= (p.Pro193=)
c.16C= (p.Pro6=)
14g.36663469C>GCA7159001PAX9c.577C>G (p.Pro193Ala)
c.16C>G (p.Pro6Ala)
dbSNP ExAC gnomAD v2
14g.36663469C>TCA389467116PAX9c.577C>T (p.Pro193Ser)
c.16C>T (p.Pro6Ser)
gnomAD v4
14g.36663470C>ACA389467119PAX9c.578C>A (p.Pro193His)
c.17C>A (p.Pro6His)
14g.36663470C=CA2129502988PAX9c.578C= (p.Pro193=)
c.17C= (p.Pro6=)
14g.36663470C>GCA389467118PAX9c.578C>G (p.Pro193Arg)
c.17C>G (p.Pro6Arg)
14g.36663470C>TCA389467117PAX9c.578C>T (p.Pro193Leu)
c.17C>T (p.Pro6Leu)
dbSNP gnomAD v4 COSMIC
14g.36663471C>ACA485930889PAX9c.579C>A (p.Pro193=)
c.18C>A (p.Pro6=)
14g.36663471C>GCA485930890PAX9c.579C>G (p.Pro193=)
c.18C>G (p.Pro6=)
14g.36663471C>TCA485930891PAX9c.579C>T (p.Pro193=)
c.18C>T (p.Pro6=)
14g.36663472T>ACA389467120PAX9c.580T>A (p.Ser194Thr)
c.19T>A (p.Ser7Thr)
14g.36663472T>CCA389467121PAX9c.580T>C (p.Ser194Pro)
c.19T>C (p.Ser7Pro)
14g.36663472T>GCA389467122PAX9c.580T>G (p.Ser194Ala)
c.19T>G (p.Ser7Ala)
14g.36663473C>ACA389467123PAX9c.581C>A (p.Ser194Tyr)
c.20C>A (p.Ser7Tyr)
14g.36663473C=CA2129502992PAX9c.581C= (p.Ser194=)
c.20C= (p.Ser7=)
14g.36663473C>GCA389467124PAX9c.581C>G (p.Ser194Cys)
c.20C>G (p.Ser7Cys)
14g.36663473C>TCA389467125PAX9c.581C>T (p.Ser194Phe)
c.20C>T (p.Ser7Phe)
dbSNP
14g.36663474C>ACA485930892PAX9c.582C>A (p.Ser194=)
c.21C>A (p.Ser7=)
14g.36663474C=CA2129502994PAX9c.582C= (p.Ser194=)
c.21C= (p.Ser7=)
14g.36663474C>GCA485930893PAX9c.582C>G (p.Ser194=)
c.21C>G (p.Ser7=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.36663474C>TCA485930894PAX9c.582C>T (p.Ser194=)
c.21C>T (p.Ser7=)
dbSNP gnomAD v2 gnomAD v4
14g.36663475T>ACA389467126PAX9c.583T>A (p.Ser195Thr)
c.22T>A (p.Ser8Thr)
14g.36663475T>CCA389467128PAX9c.583T>C (p.Ser195Pro)
c.22T>C (p.Ser8Pro)
14g.36663475T>GCA389467127PAX9c.583T>G (p.Ser195Ala)
c.22T>G (p.Ser8Ala)
14g.36663476C>ACA389467129PAX9c.584C>A (p.Ser195Ter)
c.23C>A (p.Ser8Ter)
14g.36663476C=CA2129503001PAX9c.584C= (p.Ser195=)
c.23C= (p.Ser8=)
14g.36663476C>GCA389467130PAX9c.584C>G (p.Ser195Trp)
c.23C>G (p.Ser8Trp)
14g.36663476C>TCA7159002PAX9c.584C>T (p.Ser195Leu)
c.23C>T (p.Ser8Leu)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.36663477G>ACA485930897PAX9c.585G>A (p.Ser195=)
c.24G>A (p.Ser8=)
dbSNP gnomAD v2
14g.36663477G>CCA485930896PAX9c.585G>C (p.Ser195=)
c.24G>C (p.Ser8=)
14g.36663477G=CA2129503003PAX9c.585G= (p.Ser195=)
c.24G= (p.Ser8=)
14g.36663477G>TCA485930895PAX9c.585G>T (p.Ser195=)
c.24G>T (p.Ser8=)

Number of alleles fetched