Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.127614533G>ACA123473PAX4c.385C>T (p.Arg129Trp)
c.361C>T (p.Arg121Trp)
c.355C>T (p.Arg119Trp)
n.355C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.127614533G>CCA369175361PAX4c.385C>G (p.Arg129Gly)
c.361C>G (p.Arg121Gly)
c.355C>G (p.Arg119Gly)
n.355C>G
 gnomAD v4
7g.127614533G=CA1742010030PAX4c.385C= (p.Arg129=)
c.361C= (p.Arg121=)
c.355C= (p.Arg119=)
n.355C=
7g.127614533G>TCA4468105PAX4c.385C>A (p.Arg129=)
c.361C>A (p.Arg121=)
c.355C>A (p.Arg119=)
n.355C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.127614534C>ACA457525051PAX4c.384G>T (p.Leu128=)
c.360G>T (p.Leu120=)
c.354G>T (p.Leu118=)
n.354G>T
 gnomAD v4
7g.127614534C>GCA457525052PAX4c.384G>C (p.Leu128=)
c.360G>C (p.Leu120=)
c.354G>C (p.Leu118=)
n.354G>C
7g.127614534C>TCA457525053PAX4c.384G>A (p.Leu128=)
c.360G>A (p.Leu120=)
c.354G>A (p.Leu118=)
n.354G>A
7g.127614535A>CCA369175365PAX4c.383T>G (p.Leu128Arg)
c.359T>G (p.Leu120Arg)
c.353T>G (p.Leu118Arg)
n.353T>G
7g.127614535A>GCA369175367PAX4c.383T>C (p.Leu128Pro)
c.359T>C (p.Leu120Pro)
c.353T>C (p.Leu118Pro)
n.353T>C
 gnomAD v4
7g.127614535A>TCA369175373PAX4c.383T>A (p.Leu128Gln)
c.359T>A (p.Leu120Gln)
c.353T>A (p.Leu118Gln)
n.353T>A
7g.127614536G>ACA457525054PAX4c.382C>T (p.Leu128=)
c.358C>T (p.Leu120=)
c.352C>T (p.Leu118=)
n.352C>T
 dbSNP gnomAD v2 gnomAD v4
7g.127614536G>CCA369175376PAX4c.382C>G (p.Leu128Val)
c.358C>G (p.Leu120Val)
c.352C>G (p.Leu118Val)
n.352C>G
7g.127614536G=CA1742010032PAX4c.382C= (p.Leu128=)
c.358C= (p.Leu120=)
c.352C= (p.Leu118=)
n.352C=
7g.127614536G>TCA369175379PAX4c.382C>A (p.Leu128Met)
c.358C>A (p.Leu120Met)
c.352C>A (p.Leu118Met)
n.352C>A
 gnomAD v4 COSMIC COSMIC
7g.127614537G>ACA457525055PAX4c.381C>T (p.Val127=)
c.357C>T (p.Val119=)
c.351C>T (p.Val117=)
n.351C>T
 gnomAD v4
7g.127614537G>CCA457525056PAX4c.381C>G (p.Val127=)
c.357C>G (p.Val119=)
c.351C>G (p.Val117=)
n.351C>G
7g.127614537G>TCA457525057PAX4c.381C>A (p.Val127=)
c.357C>A (p.Val119=)
c.351C>A (p.Val117=)
n.351C>A
 gnomAD v4
7g.127614538A=CA1742010034PAX4c.380T= (p.Val127=)
c.356T= (p.Val119=)
c.350T= (p.Val117=)
n.350T=
7g.127614538A>CCA369175385PAX4c.380T>G (p.Val127Gly)
c.356T>G (p.Val119Gly)
c.350T>G (p.Val117Gly)
n.350T>G
7g.127614538A>GCA369175388PAX4c.380T>C (p.Val127Ala)
c.356T>C (p.Val119Ala)
c.350T>C (p.Val117Ala)
n.350T>C
 gnomAD v4
7g.127614538A>TCA166113682PAX4c.380T>A (p.Val127Asp)
c.356T>A (p.Val119Asp)
c.350T>A (p.Val117Asp)
n.350T>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.127614539C>ACA369175391PAX4c.379G>T (p.Val127Phe)
c.355G>T (p.Val119Phe)
c.349G>T (p.Val117Phe)
n.349G>T
 gnomAD v4
7g.127614539C=CA1742010037PAX4c.379G= (p.Val127=)
c.355G= (p.Val119=)
c.349G= (p.Val117=)
n.349G=
7g.127614539C>GCA369175393PAX4c.379G>C (p.Val127Leu)
c.355G>C (p.Val119Leu)
c.349G>C (p.Val117Leu)
n.349G>C
7g.127614539C>TCA369175390PAX4c.379G>A (p.Val127Ile)
c.355G>A (p.Val119Ile)
c.349G>A (p.Val117Ile)
n.349G>A
 dbSNP gnomAD v2
7g.127614539_127614542delinsCTCGCA1742010039PAX4c.376_379delinsCGAG (p.Arg126=)
c.352_355delinsCGAG (p.Arg118=)
c.346_349delinsCGAG (p.Arg116=)
n.346_349delinsCGAG
7g.127614540T>ACA457525058PAX4c.378A>T (p.Arg126=)
c.354A>T (p.Arg118=)
c.348A>T (p.Arg116=)
n.348A>T
7g.127614540T>CCA457525059PAX4c.378A>G (p.Arg126=)
c.354A>G (p.Arg118=)
c.348A>G (p.Arg116=)
n.348A>G
 dbSNP
7g.127614540T>GCA457525060PAX4c.378A>C (p.Arg126=)
c.354A>C (p.Arg118=)
c.348A>C (p.Arg116=)
n.348A>C
7g.127614540T=CA1742010045PAX4c.378A= (p.Arg126=)
c.354A= (p.Arg118=)
c.348A= (p.Arg116=)
n.348A=
7g.127614540_127614542delCA1742010043PAX4c.376_378del (p.Arg126del)
c.352_354del (p.Arg118del)
c.346_348del (p.Arg116del)
n.346_348del
 dbSNP
7g.127614541C>ACA369175395PAX4c.377G>T (p.Arg126Leu)
c.353G>T (p.Arg118Leu)
c.347G>T (p.Arg116Leu)
n.347G>T
 gnomAD v4
7g.127614541C=CA1742010048PAX4c.377G= (p.Arg126=)
c.353G= (p.Arg118=)
c.347G= (p.Arg116=)
n.347G=
7g.127614541C>GCA369175398PAX4c.377G>C (p.Arg126Pro)
c.353G>C (p.Arg118Pro)
c.347G>C (p.Arg116Pro)
n.347G>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.127614541C>TCA4468106PAX4c.377G>A (p.Arg126Gln)
c.353G>A (p.Arg118Gln)
c.347G>A (p.Arg116Gln)
n.347G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.127614542G>ACA4468107PAX4c.376C>T (p.Arg126Ter)
c.352C>T (p.Arg118Ter)
c.346C>T (p.Arg116Ter)
n.346C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.127614542G>CCA369175400PAX4c.376C>G (p.Arg126Gly)
c.352C>G (p.Arg118Gly)
c.346C>G (p.Arg116Gly)
n.346C>G
7g.127614542G=CA1742010052PAX4c.376C= (p.Arg126=)
c.352C= (p.Arg118=)
c.346C= (p.Arg116=)
n.346C=
7g.127614542G>TCA457525061PAX4c.376C>A (p.Arg126=)
c.352C>A (p.Arg118=)
c.346C>A (p.Arg116=)
n.346C>A
 dbSNP gnomAD v2 gnomAD v4
7g.127614544_127614550delCA2579009538PAX4c.370_376del (p.Ile124GlufsTer?)
c.346_352del (p.Ile116GlufsTer?)
c.340_346del (p.Ile114GlufsTer?)
n.340_346del
7g.127614543G>ACA457525062PAX4c.375C>T (p.Asn125=)
c.351C>T (p.Asn117=)
c.345C>T (p.Asn115=)
n.345C>T
 dbSNP gnomAD v4
7g.127614543G>CCA369175402PAX4c.375C>G (p.Asn125Lys)
c.351C>G (p.Asn117Lys)
c.345C>G (p.Asn115Lys)
n.345C>G
7g.127614543G=CA1742010055PAX4c.375C= (p.Asn125=)
c.351C= (p.Asn117=)
c.345C= (p.Asn115=)
n.345C=
7g.127614543G>TCA369175404PAX4c.375C>A (p.Asn125Lys)
c.351C>A (p.Asn117Lys)
c.345C>A (p.Asn115Lys)
n.345C>A
7g.127614544T>ACA369175405PAX4c.374A>T (p.Asn125Ile)
c.350A>T (p.Asn117Ile)
c.344A>T (p.Asn115Ile)
n.344A>T
 gnomAD v4
7g.127614544T>CCA4468108PAX4c.374A>G (p.Asn125Ser)
c.350A>G (p.Asn117Ser)
c.344A>G (p.Asn115Ser)
n.344A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.127614544T>GCA369175408PAX4c.374A>C (p.Asn125Thr)
c.350A>C (p.Asn117Thr)
c.344A>C (p.Asn115Thr)
n.344A>C
7g.127614544T=CA1742010059PAX4c.374A= (p.Asn125=)
c.350A= (p.Asn117=)
c.344A= (p.Asn115=)
n.344A=
7g.127614545T>ACA369175411PAX4c.373A>T (p.Asn125Tyr)
c.349A>T (p.Asn117Tyr)
c.343A>T (p.Asn115Tyr)
n.343A>T
7g.127614545T>CCA369175413PAX4c.373A>G (p.Asn125Asp)
c.349A>G (p.Asn117Asp)
c.343A>G (p.Asn115Asp)
n.343A>G
 gnomAD v4

Number of alleles fetched