Chr Mutation (hg38) CAid Gene Transcript Linkouts
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=)
14g.36663478C>ACA389467131PAX9c.586C>A (p.His196Asn)
c.25C>A (p.His9Asn)
14g.36663478C=CA2129503006PAX9c.586C= (p.His196=)
c.25C= (p.His9=)
14g.36663478C>GCA389467132PAX9c.586C>G (p.His196Asp)
c.25C>G (p.His9Asp)
14g.36663478C>TCA7159003PAX9c.586C>T (p.His196Tyr)
c.25C>T (p.His9Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.36663479A>CCA389467133PAX9c.587A>C (p.His196Pro)
c.26A>C (p.His9Pro)
14g.36663479A>GCA389467134PAX9c.587A>G (p.His196Arg)
c.26A>G (p.His9Arg)
14g.36663479A>TCA389467135PAX9c.587A>T (p.His196Leu)
c.26A>T (p.His9Leu)
14g.36663480C>ACA389467136PAX9c.588C>A (p.His196Gln)
c.27C>A (p.His9Gln)
14g.36663480C=CA2129503009PAX9c.588C= (p.His196=)
c.27C= (p.His9=)
14g.36663480C>GCA389467137PAX9c.588C>G (p.His196Gln)
c.27C>G (p.His9Gln)
 gnomAD v4
14g.36663480C>TCA485930898PAX9c.588C>T (p.His196=)
c.27C>T (p.His9=)
 dbSNP gnomAD v4
14g.36663481T>ACA389467138PAX9c.589T>A (p.Ser197Thr)
c.28T>A (p.Ser10Thr)
14g.36663481T>CCA258926778PAX9c.589T>C (p.Ser197Pro)
c.28T>C (p.Ser10Pro)
 dbSNP gnomAD v3 gnomAD v4
14g.36663481T>GCA389467139PAX9c.589T>G (p.Ser197Ala)
c.28T>G (p.Ser10Ala)
 gnomAD v4
14g.36663481T=CA2129503012PAX9c.589T= (p.Ser197=)
c.28T= (p.Ser10=)
14g.36663482C>ACA389467140PAX9c.590C>A (p.Ser197Tyr)
c.29C>A (p.Ser10Tyr)
14g.36663482C>GCA389467141PAX9c.590C>G (p.Ser197Cys)
c.29C>G (p.Ser10Cys)
14g.36663482C>TCA389467142PAX9c.590C>T (p.Ser197Phe)
c.29C>T (p.Ser10Phe)
14g.36663485_36663490dupCA7159004PAX9c.593_598dup (p.Thr199_Asp200insValThr)
c.32_37dup (p.Thr12_Asp13insValThr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.36663483C>ACA485930899PAX9c.591C>A (p.Ser197=)
c.30C>A (p.Ser10=)
 dbSNP gnomAD v4
14g.36663483C=CA2129503023PAX9c.591C= (p.Ser197=)
c.30C= (p.Ser10=)

Number of alleles fetched