Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.127613708G>TCA2684749146PAX4c.562+48C>A (n.562+48C>A)
c.538+48C>A (n.538+48C>A)
c.532+48C>A (n.532+48C>A)
n.532+48C>A
 gnomAD v4
7g.127613710G>ACA4468045PAX4c.562+46C>T (n.562+46C>T)
c.538+46C>T (n.538+46C>T)
c.532+46C>T (n.532+46C>T)
n.532+46C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.127613710G=CA1742009351PAX4c.562+46C= (n.562+46C=)
c.538+46C= (n.538+46C=)
c.532+46C= (n.532+46C=)
n.532+46C=
7g.127613712dupCA2579009515PAX4c.562+44dup (n.562+44dup)
c.538+44dup (n.538+44dup)
c.532+44dup (n.532+44dup)
n.532+44dup
7g.127613713A>GCA2579009516PAX4c.562+43T>C (n.562+43T>C)
c.538+43T>C (n.538+43T>C)
c.532+43T>C (n.532+43T>C)
n.532+43T>C
 gnomAD v4
7g.127613715A>GCA2684749147PAX4c.562+41T>C (n.562+41T>C)
c.538+41T>C (n.538+41T>C)
c.532+41T>C (n.532+41T>C)
n.532+41T>C
 gnomAD v4
7g.127613716C>ACA2524245125PAX4c.562+40G>T (n.562+40G>T)
c.538+40G>T (n.538+40G>T)
c.532+40G>T (n.532+40G>T)
n.532+40G>T
 gnomAD v4
7g.127613716C>GCA2684749148PAX4c.562+40G>C (n.562+40G>C)
c.538+40G>C (n.538+40G>C)
c.532+40G>C (n.532+40G>C)
n.532+40G>C
 gnomAD v4
7g.127613717T>CCA833019528PAX4c.562+39A>G (n.562+39A>G)
c.538+39A>G (n.538+39A>G)
c.532+39A>G (n.532+39A>G)
n.532+39A>G
 dbSNP gnomAD v3 gnomAD v4
7g.127613717T=CA1742009354PAX4c.562+39A= (n.562+39A=)
c.538+39A= (n.538+39A=)
c.532+39A= (n.532+39A=)
n.532+39A=
7g.127613719A=CA1742009356PAX4c.562+37T= (n.562+37T=)
c.538+37T= (n.538+37T=)
c.532+37T= (n.532+37T=)
n.532+37T=
7g.127613719A>GCA166112906PAX4c.562+37T>C (n.562+37T>C)
c.538+37T>C (n.538+37T>C)
c.532+37T>C (n.532+37T>C)
n.532+37T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.127613721G>ACA4468046PAX4c.562+35C>T (n.562+35C>T)
c.538+35C>T (n.538+35C>T)
c.532+35C>T (n.532+35C>T)
n.532+35C>T
 dbSNP ExAC gnomAD v4
7g.127613721G=CA1742009358PAX4c.562+35C= (n.562+35C=)
c.538+35C= (n.538+35C=)
c.532+35C= (n.532+35C=)
n.532+35C=
7g.127613721G>TCA2777819567PAX4c.562+35C>A (n.562+35C>A)
c.538+35C>A (n.538+35C>A)
c.532+35C>A (n.532+35C>A)
n.532+35C>A
7g.127613722A>TCA2684749149PAX4c.562+34T>A (n.562+34T>A)
c.538+34T>A (n.538+34T>A)
c.532+34T>A (n.532+34T>A)
n.532+34T>A
 gnomAD v4
7g.127613723C>GCA2684749150PAX4c.562+33G>C (n.562+33G>C)
c.538+33G>C (n.538+33G>C)
c.532+33G>C (n.532+33G>C)
n.532+33G>C
 gnomAD v4
7g.127613724T>CCA833019533PAX4c.562+32A>G (n.562+32A>G)
c.538+32A>G (n.538+32A>G)
c.532+32A>G (n.532+32A>G)
n.532+32A>G
 dbSNP gnomAD v3 gnomAD v4
7g.127613724T=CA1742009361PAX4c.562+32A= (n.562+32A=)
c.538+32A= (n.538+32A=)
c.532+32A= (n.532+32A=)
n.532+32A=
7g.127613725C>ACA4468047PAX4c.562+31G>T (n.562+31G>T)
c.538+31G>T (n.538+31G>T)
c.532+31G>T (n.532+31G>T)
n.532+31G>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.127613725C=CA1742009362PAX4c.562+31G= (n.562+31G=)
c.538+31G= (n.538+31G=)
c.532+31G= (n.532+31G=)
n.532+31G=
7g.127613725C>GCA2684749151PAX4c.562+31G>C (n.562+31G>C)
c.538+31G>C (n.538+31G>C)
c.532+31G>C (n.532+31G>C)
n.532+31G>C
 gnomAD v4
7g.127613726T>CCA4468048PAX4c.562+30A>G (n.562+30A>G)
c.538+30A>G (n.538+30A>G)
c.532+30A>G (n.532+30A>G)
n.532+30A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.127613726T>GCA2740886604PAX4c.562+30A>C (n.562+30A>C)
c.538+30A>C (n.538+30A>C)
c.532+30A>C (n.532+30A>C)
n.532+30A>C
7g.127613726T=CA1742009364PAX4c.562+30A= (n.562+30A=)
c.538+30A= (n.538+30A=)
c.532+30A= (n.532+30A=)
n.532+30A=
7g.127613727C=CA1742009368PAX4c.562+29G= (n.562+29G=)
c.538+29G= (n.538+29G=)
c.532+29G= (n.532+29G=)
n.532+29G=
7g.127613727C>GCA4468049PAX4c.562+29G>C (n.562+29G>C)
c.538+29G>C (n.538+29G>C)
c.532+29G>C (n.532+29G>C)
n.532+29G>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.127613727C>TCA577707722PAX4c.562+29G>A (n.562+29G>A)
c.538+29G>A (n.538+29G>A)
c.532+29G>A (n.532+29G>A)
n.532+29G>A
 dbSNP gnomAD v2 gnomAD v4
7g.127613729G>CCA2684749152PAX4c.562+27C>G (n.562+27C>G)
c.538+27C>G (n.538+27C>G)
c.532+27C>G (n.532+27C>G)
n.532+27C>G
 gnomAD v4
7g.127613729_127613731dupCA2579009517PAX4c.562+25_562+27dup (n.562+25_562+27dup)
c.538+25_538+27dup (n.538+25_538+27dup)
c.532+25_532+27dup (n.532+25_532+27dup)
n.532+25_532+27dup
7g.127613731C=CA1742009372PAX4c.562+25G= (n.562+25G=)
c.538+25G= (n.538+25G=)
c.532+25G= (n.532+25G=)
n.532+25G=
7g.127613731C>TCA1742009373PAX4c.562+25G>A (n.562+25G>A)
c.538+25G>A (n.538+25G>A)
c.532+25G>A (n.532+25G>A)
n.532+25G>A
 dbSNP
7g.127613732C>ACA2684749153PAX4c.562+24G>T (n.562+24G>T)
c.538+24G>T (n.538+24G>T)
c.532+24G>T (n.532+24G>T)
n.532+24G>T
 gnomAD v4
7g.127613732C=CA1742009376PAX4c.562+24G= (n.562+24G=)
c.538+24G= (n.538+24G=)
c.532+24G= (n.532+24G=)
n.532+24G=
7g.127613732C>GCA2579009518PAX4c.562+24G>C (n.562+24G>C)
c.538+24G>C (n.538+24G>C)
c.532+24G>C (n.532+24G>C)
n.532+24G>C
7g.127613732C>TCA4468050PAX4c.562+24G>A (n.562+24G>A)
c.538+24G>A (n.538+24G>A)
c.532+24G>A (n.532+24G>A)
n.532+24G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.127613733C=CA1742009378PAX4c.562+23G= (n.562+23G=)
c.538+23G= (n.538+23G=)
c.532+23G= (n.532+23G=)
n.532+23G=
7g.127613733C>TCA577707723PAX4c.562+23G>A (n.562+23G>A)
c.538+23G>A (n.538+23G>A)
c.532+23G>A (n.532+23G>A)
n.532+23G>A
 dbSNP gnomAD v2
7g.127613734T>ACA2777819568PAX4c.562+22A>T (n.562+22A>T)
c.538+22A>T (n.538+22A>T)
c.532+22A>T (n.532+22A>T)
n.532+22A>T
7g.127613735_127613736insAAAACCAAACACACCCAACACA2777819569PAX4c.562+20_562+21insTGTTGGGTGTGTTTGGTTTT (n.562+20_562+21insTGTTGGGTGTGTTTGGTTTT)
c.538+20_538+21insTGTTGGGTGTGTTTGGTTTT (n.538+20_538+21insTGTTGGGTGTGTTTGGTTTT)
c.532+20_532+21insTGTTGGGTGTGTTTGGTTTT (n.532+20_532+21insTGTTGGGTGTGTTTGGTTTT)
n.532+20_532+21insTGTTGGGTGTGTTTGGTTTT
7g.127613736C>ACA2715769109PAX4c.562+20G>T (n.562+20G>T)
c.538+20G>T (n.538+20G>T)
c.532+20G>T (n.532+20G>T)
n.532+20G>T
 dbSNP
7g.127613737A=CA1742009380PAX4c.562+19T= (n.562+19T=)
c.538+19T= (n.538+19T=)
c.532+19T= (n.532+19T=)
n.532+19T=
7g.127613737A>GCA4468051PAX4c.562+19T>C (n.562+19T>C)
c.538+19T>C (n.538+19T>C)
c.532+19T>C (n.532+19T>C)
n.532+19T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.127613738T>GCA166112959PAX4c.562+18A>C (n.562+18A>C)
c.538+18A>C (n.538+18A>C)
c.532+18A>C (n.532+18A>C)
n.532+18A>C
 dbSNP
7g.127613738T=CA1742009383PAX4c.562+18A= (n.562+18A=)
c.538+18A= (n.538+18A=)
c.532+18A= (n.532+18A=)
n.532+18A=
7g.127613739C>ACA1742009386PAX4c.562+17G>T (n.562+17G>T)
c.538+17G>T (n.538+17G>T)
c.532+17G>T (n.532+17G>T)
n.532+17G>T
 dbSNP
7g.127613739C=CA1742009385PAX4c.562+17G= (n.562+17G=)
c.538+17G= (n.538+17G=)
c.532+17G= (n.532+17G=)
n.532+17G=
7g.127613741G>ACA4468052PAX4c.562+15C>T (n.562+15C>T)
c.538+15C>T (n.538+15C>T)
c.532+15C>T (n.532+15C>T)
n.532+15C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.127613741G=CA1742009388PAX4c.562+15C= (n.562+15C=)
c.538+15C= (n.538+15C=)
c.532+15C= (n.532+15C=)
n.532+15C=
7g.127613742_127613743delinsTCCA1742009389PAX4c.562+13_562+14delinsGA (n.562+13_562+14delinsGA)
c.538+13_538+14delinsGA (n.538+13_538+14delinsGA)
c.532+13_532+14delinsGA (n.532+13_532+14delinsGA)
n.532+13_532+14delinsGA
7g.127613743C=CA1742009392PAX4c.562+13G= (n.562+13G=)
c.538+13G= (n.538+13G=)
c.532+13G= (n.532+13G=)
n.532+13G=
7g.127613743C>TCA577707725PAX4c.562+13G>A (n.562+13G>A)
c.538+13G>A (n.538+13G>A)
c.532+13G>A (n.532+13G>A)
n.532+13G>A
 dbSNP gnomAD v2 gnomAD v4
7g.127613745delCA577707724PAX4c.562+13del (n.562+13del)
c.538+13del (n.538+13del)
c.532+13del (n.532+13del)
n.532+13del
 dbSNP gnomAD v2 gnomAD v4
7g.127613746A=CA1742009394PAX4c.562+10T= (n.562+10T=)
c.538+10T= (n.538+10T=)
c.532+10T= (n.532+10T=)
n.532+10T=
7g.127613746A>CCA2684749154PAX4c.562+10T>G (n.562+10T>G)
c.538+10T>G (n.538+10T>G)
c.532+10T>G (n.532+10T>G)
n.532+10T>G
 gnomAD v4
7g.127613746A>GCA4468053PAX4c.562+10T>C (n.562+10T>C)
c.538+10T>C (n.538+10T>C)
c.532+10T>C (n.532+10T>C)
n.532+10T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.127613748C>ACA2684749155PAX4c.562+8G>T (n.562+8G>T)
c.538+8G>T (n.538+8G>T)
c.532+8G>T (n.532+8G>T)
n.532+8G>T
 gnomAD v4
7g.127613748C=CA1742009397PAX4c.562+8G= (n.562+8G=)
c.538+8G= (n.538+8G=)
c.532+8G= (n.532+8G=)
n.532+8G=
7g.127613748C>GCA577707726PAX4c.562+8G>C (n.562+8G>C)
c.538+8G>C (n.538+8G>C)
c.532+8G>C (n.532+8G>C)
n.532+8G>C
 dbSNP gnomAD v2 gnomAD v4
7g.127613748C>TCA577707727PAX4c.562+8G>A (n.562+8G>A)
c.538+8G>A (n.538+8G>A)
c.532+8G>A (n.532+8G>A)
n.532+8G>A
 dbSNP gnomAD v2 gnomAD v4
7g.127613754A>CCA369174238PAX4c.562+2T>G (n.562+2T>G)
c.538+2T>G (n.538+2T>G)
c.532+2T>G (n.532+2T>G)
n.532+2T>G
7g.127613754A>GCA369174240PAX4c.562+2T>C (n.562+2T>C)
c.538+2T>C (n.538+2T>C)
c.532+2T>C (n.532+2T>C)
n.532+2T>C
 dbSNP
7g.127613754A>TCA369174241PAX4c.562+2T>A (n.562+2T>A)
c.538+2T>A (n.538+2T>A)
c.532+2T>A (n.532+2T>A)
n.532+2T>A
7g.127613755C>ACA369174244PAX4c.562+1G>T (n.562+1G>T)
c.538+1G>T (n.538+1G>T)
c.532+1G>T (n.532+1G>T)
n.532+1G>T
7g.127613755C=CA1742009400PAX4c.562+1G= (n.562+1G=)
c.538+1G= (n.538+1G=)
c.532+1G= (n.532+1G=)
n.532+1G=
7g.127613755C>GCA369174246PAX4c.562+1G>C (n.562+1G>C)
c.538+1G>C (n.538+1G>C)
c.532+1G>C (n.532+1G>C)
n.532+1G>C
7g.127613755C>TCA166112965PAX4c.562+1G>A (n.562+1G>A)
c.538+1G>A (n.538+1G>A)
c.532+1G>A (n.532+1G>A)
n.532+1G>A
 dbSNP
7g.127613756C>ACA369174247PAX4c.562G>T (p.Glu188Ter)
c.538G>T (p.Glu180Ter)
c.532G>T (p.Glu178Ter)
n.532G>T
7g.127613756C>GCA369174248PAX4c.562G>C (p.Glu188Gln)
c.538G>C (p.Glu180Gln)
c.532G>C (p.Glu178Gln)
n.532G>C
7g.127613756C>TCA369174249PAX4c.562G>A (p.Glu188Lys)
c.538G>A (p.Glu180Lys)
c.532G>A (p.Glu178Lys)
n.532G>A
 COSMIC COSMIC
7g.127613757T>ACA369174250PAX4c.561A>T (p.Lys187Asn)
c.537A>T (p.Lys179Asn)
c.531A>T (p.Lys177Asn)
n.531A>T
7g.127613757T>CCA457524924PAX4c.561A>G (p.Lys187=)
c.537A>G (p.Lys179=)
c.531A>G (p.Lys177=)
n.531A>G
 gnomAD v4
7g.127613757T>GCA369174251PAX4c.561A>C (p.Lys187Asn)
c.537A>C (p.Lys179Asn)
c.531A>C (p.Lys177Asn)
n.531A>C
7g.127613758T>ACA369174252PAX4c.560A>T (p.Lys187Ile)
c.536A>T (p.Lys179Ile)
c.530A>T (p.Lys177Ile)
n.530A>T
7g.127613758T>CCA369174253PAX4c.560A>G (p.Lys187Arg)
c.536A>G (p.Lys179Arg)
c.530A>G (p.Lys177Arg)
n.530A>G
7g.127613758T>GCA369174254PAX4c.560A>C (p.Lys187Thr)
c.536A>C (p.Lys179Thr)
c.530A>C (p.Lys177Thr)
n.530A>C
7g.127613759T>ACA369174255PAX4c.559A>T (p.Lys187Ter)
c.535A>T (p.Lys179Ter)
c.529A>T (p.Lys177Ter)
n.529A>T
7g.127613759T>CCA369174256PAX4c.559A>G (p.Lys187Glu)
c.535A>G (p.Lys179Glu)
c.529A>G (p.Lys177Glu)
n.529A>G
7g.127613759T>GCA369174257PAX4c.559A>C (p.Lys187Gln)
c.535A>C (p.Lys179Gln)
c.529A>C (p.Lys177Gln)
n.529A>C
7g.127613760C>ACA369174258PAX4c.558G>T (p.Glu186Asp)
c.534G>T (p.Glu178Asp)
c.528G>T (p.Glu176Asp)
n.528G>T
7g.127613760C=CA1742009403PAX4c.558G= (p.Glu186=)
c.534G= (p.Glu178=)
c.528G= (p.Glu176=)
n.528G=
7g.127613760C>GCA369174259PAX4c.558G>C (p.Glu186Asp)
c.534G>C (p.Glu178Asp)
c.528G>C (p.Glu176Asp)
n.528G>C
7g.127613760C>TCA457524925PAX4c.558G>A (p.Glu186=)
c.534G>A (p.Glu178=)
c.528G>A (p.Glu176=)
n.528G>A
 dbSNP
7g.127613761T>ACA369174260PAX4c.557A>T (p.Glu186Val)
c.533A>T (p.Glu178Val)
c.527A>T (p.Glu176Val)
n.527A>T
7g.127613761T>CCA369174261PAX4c.557A>G (p.Glu186Gly)
c.533A>G (p.Glu178Gly)
c.527A>G (p.Glu176Gly)
n.527A>G
7g.127613761T>GCA369174262PAX4c.557A>C (p.Glu186Ala)
c.533A>C (p.Glu178Ala)
c.527A>C (p.Glu176Ala)
n.527A>C
7g.127613762C>ACA369174265PAX4c.556G>T (p.Glu186Ter)
c.532G>T (p.Glu178Ter)
c.526G>T (p.Glu176Ter)
n.526G>T
7g.127613762C=CA1742009406PAX4c.556G= (p.Glu186=)
c.532G= (p.Glu178=)
c.526G= (p.Glu176=)
n.526G=
7g.127613762C>GCA369174264PAX4c.556G>C (p.Glu186Gln)
c.532G>C (p.Glu178Gln)
c.526G>C (p.Glu176Gln)
n.526G>C
 dbSNP gnomAD v2 gnomAD v4
7g.127613762C>TCA369174263PAX4c.556G>A (p.Glu186Lys)
c.532G>A (p.Glu178Lys)
c.526G>A (p.Glu176Lys)
n.526G>A
7g.127613763C>ACA457524926PAX4c.555G>T (p.Leu185=)
c.531G>T (p.Leu177=)
c.525G>T (p.Leu175=)
n.525G>T
7g.127613763C>GCA457524927PAX4c.555G>C (p.Leu185=)
c.531G>C (p.Leu177=)
c.525G>C (p.Leu175=)
n.525G>C
7g.127613763C>TCA457524928PAX4c.555G>A (p.Leu185=)
c.531G>A (p.Leu177=)
c.525G>A (p.Leu175=)
n.525G>A
 gnomAD v4
7g.127613764A>CCA369174266PAX4c.554T>G (p.Leu185Arg)
c.530T>G (p.Leu177Arg)
c.524T>G (p.Leu175Arg)
n.524T>G
7g.127613764A>GCA369174267PAX4c.554T>C (p.Leu185Pro)
c.530T>C (p.Leu177Pro)
c.524T>C (p.Leu175Pro)
n.524T>C
7g.127613764A>TCA369174268PAX4c.554T>A (p.Leu185Gln)
c.530T>A (p.Leu177Gln)
c.524T>A (p.Leu175Gln)
n.524T>A
7g.127613765G>ACA457524929PAX4c.553C>T (p.Leu185=)
c.529C>T (p.Leu177=)
c.523C>T (p.Leu175=)
n.523C>T
 dbSNP gnomAD v2 gnomAD v4
7g.127613765G>CCA369174270PAX4c.553C>G (p.Leu185Val)
c.529C>G (p.Leu177Val)
c.523C>G (p.Leu175Val)
n.523C>G
 gnomAD v4
7g.127613765G=CA1742009408PAX4c.553C= (p.Leu185=)
c.529C= (p.Leu177=)
c.523C= (p.Leu175=)
n.523C=
7g.127613765G>TCA369174272PAX4c.553C>A (p.Leu185Met)
c.529C>A (p.Leu177Met)
c.523C>A (p.Leu175Met)
n.523C>A
7g.127613766T>ACA457524930PAX4c.552A>T (p.Ala184=)
c.528A>T (p.Ala176=)
c.522A>T (p.Ala174=)
n.522A>T
 dbSNP gnomAD v3 gnomAD v4
7g.127613766T>CCA457524931PAX4c.552A>G (p.Ala184=)
c.528A>G (p.Ala176=)
c.522A>G (p.Ala174=)
n.522A>G
7g.127613766T>GCA457524932PAX4c.552A>C (p.Ala184=)
c.528A>C (p.Ala176=)
c.522A>C (p.Ala174=)
n.522A>C
 gnomAD v4
7g.127613766T=CA1742009410PAX4c.552A= (p.Ala184=)
c.528A= (p.Ala176=)
c.522A= (p.Ala174=)
n.522A=
7g.127613767G>ACA369174274PAX4c.551C>T (p.Ala184Val)
c.527C>T (p.Ala176Val)
c.521C>T (p.Ala174Val)
n.521C>T
7g.127613767G>CCA369174276PAX4c.551C>G (p.Ala184Gly)
c.527C>G (p.Ala176Gly)
c.521C>G (p.Ala174Gly)
n.521C>G
7g.127613767G>TCA369174278PAX4c.551C>A (p.Ala184Glu)
c.527C>A (p.Ala176Glu)
c.521C>A (p.Ala174Glu)
n.521C>A
7g.127613768C>ACA369174280PAX4c.550G>T (p.Ala184Ser)
c.526G>T (p.Ala176Ser)
c.520G>T (p.Ala174Ser)
n.520G>T
 dbSNP
7g.127613768C=CA1742009412PAX4c.550G= (p.Ala184=)
c.526G= (p.Ala176=)
c.520G= (p.Ala174=)
n.520G=
7g.127613768C>GCA369174282PAX4c.550G>C (p.Ala184Pro)
c.526G>C (p.Ala176Pro)
c.520G>C (p.Ala174Pro)
n.520G>C
7g.127613768C>TCA4468054PAX4c.550G>A (p.Ala184Thr)
c.526G>A (p.Ala176Thr)
c.520G>A (p.Ala174Thr)
n.520G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.127613769C>ACA369174285PAX4c.549G>T (p.Glu183Asp)
c.525G>T (p.Glu175Asp)
c.519G>T (p.Glu173Asp)
n.519G>T
7g.127613769C>GCA369174287PAX4c.549G>C (p.Glu183Asp)
c.525G>C (p.Glu175Asp)
c.519G>C (p.Glu173Asp)
n.519G>C
7g.127613769C>TCA457524933PAX4c.549G>A (p.Glu183=)
c.525G>A (p.Glu175=)
c.519G>A (p.Glu173=)
n.519G>A
7g.127613770T>ACA369174292PAX4c.548A>T (p.Glu183Val)
c.524A>T (p.Glu175Val)
c.518A>T (p.Glu173Val)
n.518A>T
7g.127613770T>CCA166112978PAX4c.548A>G (p.Glu183Gly)
c.524A>G (p.Glu175Gly)
c.518A>G (p.Glu173Gly)
n.518A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.127613770T>GCA369174290PAX4c.548A>C (p.Glu183Ala)
c.524A>C (p.Glu175Ala)
c.518A>C (p.Glu173Ala)
n.518A>C
7g.127613770T=CA1742009415PAX4c.548A= (p.Glu183=)
c.524A= (p.Glu175=)
c.518A= (p.Glu173=)
n.518A=
7g.127613771C>ACA369174295PAX4c.547G>T (p.Glu183Ter)
c.523G>T (p.Glu175Ter)
c.517G>T (p.Glu173Ter)
n.517G>T
7g.127613771C>GCA369174296PAX4c.547G>C (p.Glu183Gln)
c.523G>C (p.Glu175Gln)
c.517G>C (p.Glu173Gln)
n.517G>C
7g.127613771C>TCA369174300PAX4c.547G>A (p.Glu183Lys)
c.523G>A (p.Glu175Lys)
c.517G>A (p.Glu173Lys)
n.517G>A
7g.127613772T>ACA457524934PAX4c.546A>T (p.Ala182=)
c.522A>T (p.Ala174=)
c.516A>T (p.Ala172=)
n.516A>T
7g.127613772T>CCA166112980PAX4c.546A>G (p.Ala182=)
c.522A>G (p.Ala174=)
c.516A>G (p.Ala172=)
n.516A>G
 dbSNP
7g.127613772T>GCA457524935PAX4c.546A>C (p.Ala182=)
c.522A>C (p.Ala174=)
c.516A>C (p.Ala172=)
n.516A>C
7g.127613772T=CA1742009417PAX4c.546A= (p.Ala182=)
c.522A= (p.Ala174=)
c.516A= (p.Ala172=)
n.516A=
7g.127613773G>ACA369174302PAX4c.545C>T (p.Ala182Val)
c.521C>T (p.Ala174Val)
c.515C>T (p.Ala172Val)
n.515C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.127613773G>CCA369174304PAX4c.545C>G (p.Ala182Gly)
c.521C>G (p.Ala174Gly)
c.515C>G (p.Ala172Gly)
n.515C>G
7g.127613773G=CA1742009419PAX4c.545C= (p.Ala182=)
c.521C= (p.Ala174=)
c.515C= (p.Ala172=)
n.515C=
7g.127613773G>TCA369174306PAX4c.545C>A (p.Ala182Glu)
c.521C>A (p.Ala174Glu)
c.515C>A (p.Ala172Glu)
n.515C>A
7g.127613774C>ACA369174309PAX4c.544G>T (p.Ala182Ser)
c.520G>T (p.Ala174Ser)
c.514G>T (p.Ala172Ser)
n.514G>T
7g.127613774C>GCA369174310PAX4c.544G>C (p.Ala182Pro)
c.520G>C (p.Ala174Pro)
c.514G>C (p.Ala172Pro)
n.514G>C
7g.127613774C>TCA369174312PAX4c.544G>A (p.Ala182Thr)
c.520G>A (p.Ala174Thr)
c.514G>A (p.Ala172Thr)
n.514G>A
7g.127613775T>ACA369174315PAX4c.543A>T (p.Gln181His)
c.519A>T (p.Gln173His)
c.513A>T (p.Gln171His)
n.513A>T
7g.127613775T>CCA154223PAX4c.543A>G (p.Gln181=)
c.519A>G (p.Gln173=)
c.513A>G (p.Gln171=)
n.513A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.127613775T>GCA369174318PAX4c.543A>C (p.Gln181His)
c.519A>C (p.Gln173His)
c.513A>C (p.Gln171His)
n.513A>C
7g.127613775T=CA1742009423PAX4c.543A= (p.Gln181=)
c.519A= (p.Gln173=)
c.513A= (p.Gln171=)
n.513A=
7g.127613776T>ACA369174320PAX4c.542A>T (p.Gln181Leu)
c.518A>T (p.Gln173Leu)
c.512A>T (p.Gln171Leu)
n.512A>T
7g.127613776T>CCA369174324PAX4c.542A>G (p.Gln181Arg)
c.518A>G (p.Gln173Arg)
c.512A>G (p.Gln171Arg)
n.512A>G
7g.127613776T>GCA369174322PAX4c.542A>C (p.Gln181Pro)
c.518A>C (p.Gln173Pro)
c.512A>C (p.Gln171Pro)
n.512A>C
7g.127613777G>ACA369174327PAX4c.541C>T (p.Gln181Ter)
c.517C>T (p.Gln173Ter)
c.511C>T (p.Gln171Ter)
n.511C>T
7g.127613777G>CCA369174330PAX4c.541C>G (p.Gln181Glu)
c.517C>G (p.Gln173Glu)
c.511C>G (p.Gln171Glu)
n.511C>G
7g.127613777G>TCA369174329PAX4c.541C>A (p.Gln181Lys)
c.517C>A (p.Gln173Lys)
c.511C>A (p.Gln171Lys)
n.511C>A
7g.127613778G>ACA457524936PAX4c.540C>T (p.Ser180=)
c.516C>T (p.Ser172=)
c.510C>T (p.Ser170=)
n.510C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.127613778G>CCA369174332PAX4c.540C>G (p.Ser180Arg)
c.516C>G (p.Ser172Arg)
c.510C>G (p.Ser170Arg)
n.510C>G
7g.127613778G=CA1742009426PAX4c.540C= (p.Ser180=)
c.516C= (p.Ser172=)
c.510C= (p.Ser170=)
n.510C=
7g.127613778G>TCA369174334PAX4c.540C>A (p.Ser180Arg)
c.516C>A (p.Ser172Arg)
c.510C>A (p.Ser170Arg)
n.510C>A
7g.127613779C>ACA369174336PAX4c.539G>T (p.Ser180Ile)
c.515G>T (p.Ser172Ile)
c.509G>T (p.Ser170Ile)
n.509G>T
7g.127613779C=CA1742009429PAX4c.539G= (p.Ser180=)
c.515G= (p.Ser172=)
c.509G= (p.Ser170=)
n.509G=
7g.127613779C>GCA369174338PAX4c.539G>C (p.Ser180Thr)
c.515G>C (p.Ser172Thr)
c.509G>C (p.Ser170Thr)
n.509G>C
 COSMIC COSMIC
7g.127613779C>TCA369174340PAX4c.539G>A (p.Ser180Asn)
c.515G>A (p.Ser172Asn)
c.509G>A (p.Ser170Asn)
n.509G>A
 ClinVar dbSNP
7g.127613780T>ACA369174347PAX4c.538A>T (p.Ser180Cys)
c.514A>T (p.Ser172Cys)
c.508A>T (p.Ser170Cys)
n.508A>T
7g.127613780T>CCA369174344PAX4c.538A>G (p.Ser180Gly)
c.514A>G (p.Ser172Gly)
c.508A>G (p.Ser170Gly)
n.508A>G
7g.127613780T>GCA369174342PAX4c.538A>C (p.Ser180Arg)
c.514A>C (p.Ser172Arg)
c.508A>C (p.Ser170Arg)
n.508A>C
7g.127613781T>ACA457524939PAX4c.537A>T (p.Pro179=)
c.513A>T (p.Pro171=)
c.507A>T (p.Pro169=)
n.507A>T
7g.127613781T>CCA457524938PAX4c.537A>G (p.Pro179=)
c.513A>G (p.Pro171=)
c.507A>G (p.Pro169=)
n.507A>G
7g.127613781T>GCA457524937PAX4c.537A>C (p.Pro179=)
c.513A>C (p.Pro171=)
c.507A>C (p.Pro169=)
n.507A>C
7g.127613782G>ACA369174348PAX4c.536C>T (p.Pro179Leu)
c.512C>T (p.Pro171Leu)
c.506C>T (p.Pro169Leu)
n.506C>T
 gnomAD v4
7g.127613782G>CCA369174351PAX4c.536C>G (p.Pro179Arg)
c.512C>G (p.Pro171Arg)
c.506C>G (p.Pro169Arg)
n.506C>G
7g.127613782G>TCA369174353PAX4c.536C>A (p.Pro179Gln)
c.512C>A (p.Pro171Gln)
c.506C>A (p.Pro169Gln)
n.506C>A
 COSMIC COSMIC
7g.127613783G>ACA369174355PAX4c.535C>T (p.Pro179Ser)
c.511C>T (p.Pro171Ser)
c.505C>T (p.Pro169Ser)
n.505C>T
 gnomAD v4
7g.127613783G>CCA369174357PAX4c.535C>G (p.Pro179Ala)
c.511C>G (p.Pro171Ala)
c.505C>G (p.Pro169Ala)
n.505C>G
 gnomAD v4
7g.127613783G=CA1742009433PAX4c.535C= (p.Pro179=)
c.511C= (p.Pro171=)
c.505C= (p.Pro169=)
n.505C=
7g.127613783G>TCA166112982PAX4c.535C>A (p.Pro179Thr)
c.511C>A (p.Pro171Thr)
c.505C>A (p.Pro169Thr)
n.505C>A
 dbSNP gnomAD v4
7g.127613784G>ACA457524940PAX4c.534C>T (p.Ser178=)
c.510C>T (p.Ser170=)
c.504C>T (p.Ser168=)
n.504C>T
 gnomAD v4 COSMIC COSMIC
7g.127613784G>CCA457524942PAX4c.534C>G (p.Ser178=)
c.510C>G (p.Ser170=)
c.504C>G (p.Ser168=)
n.504C>G
7g.127613784G=CA1742009436PAX4c.534C= (p.Ser178=)
c.510C= (p.Ser170=)
c.504C= (p.Ser168=)
n.504C=
7g.127613784G>TCA457524941PAX4c.534C>A (p.Ser178=)
c.510C>A (p.Ser170=)
c.504C>A (p.Ser168=)
n.504C>A
 dbSNP gnomAD v4
7g.127613785G>ACA369174362PAX4c.533C>T (p.Ser178Phe)
c.509C>T (p.Ser170Phe)
c.503C>T (p.Ser168Phe)
n.503C>T
7g.127613785G>CCA369174359PAX4c.533C>G (p.Ser178Cys)
c.509C>G (p.Ser170Cys)
c.503C>G (p.Ser168Cys)
n.503C>G
7g.127613785G>TCA369174361PAX4c.533C>A (p.Ser178Tyr)
c.509C>A (p.Ser170Tyr)
c.503C>A (p.Ser168Tyr)
n.503C>A
7g.127613786A>CCA369174364PAX4c.532T>G (p.Ser178Ala)
c.508T>G (p.Ser170Ala)
c.502T>G (p.Ser168Ala)
n.502T>G
7g.127613786A>GCA369174366PAX4c.532T>C (p.Ser178Pro)
c.508T>C (p.Ser170Pro)
c.502T>C (p.Ser168Pro)
n.502T>C
7g.127613786A>TCA369174368PAX4c.532T>A (p.Ser178Thr)
c.508T>A (p.Ser170Thr)
c.502T>A (p.Ser168Thr)
n.502T>A
7g.127613787G>ACA457524943PAX4c.531C>T (p.Phe177=)
c.507C>T (p.Phe169=)
c.501C>T (p.Phe167=)
n.501C>T
7g.127613787G>CCA369174370PAX4c.531C>G (p.Phe177Leu)
c.507C>G (p.Phe169Leu)
c.501C>G (p.Phe167Leu)
n.501C>G
 gnomAD v4
7g.127613787G=CA1742009438PAX4c.531C= (p.Phe177=)
c.507C= (p.Phe169=)
c.501C= (p.Phe167=)
n.501C=
7g.127613787G>TCA369174372PAX4c.531C>A (p.Phe177Leu)
c.507C>A (p.Phe169Leu)
c.501C>A (p.Phe167Leu)
n.501C>A
 dbSNP gnomAD v3 gnomAD v4
7g.127613788A>CCA369174374PAX4c.530T>G (p.Phe177Cys)
c.506T>G (p.Phe169Cys)
c.500T>G (p.Phe167Cys)
n.500T>G
7g.127613788A>GCA369174376PAX4c.530T>C (p.Phe177Ser)
c.506T>C (p.Phe169Ser)
c.500T>C (p.Phe167Ser)
n.500T>C
7g.127613788A>TCA369174378PAX4c.530T>A (p.Phe177Tyr)
c.506T>A (p.Phe169Tyr)
c.500T>A (p.Phe167Tyr)
n.500T>A
7g.127613789A=CA1742009440PAX4c.529T= (p.Phe177=)
c.505T= (p.Phe169=)
c.499T= (p.Phe167=)
n.499T=
7g.127613789A>CCA4468055PAX4c.529T>G (p.Phe177Val)
c.505T>G (p.Phe169Val)
c.499T>G (p.Phe167Val)
n.499T>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.127613789A>GCA369174381PAX4c.529T>C (p.Phe177Leu)
c.505T>C (p.Phe169Leu)
c.499T>C (p.Phe167Leu)
n.499T>C
7g.127613789A>TCA369174383PAX4c.529T>A (p.Phe177Ile)
c.505T>A (p.Phe169Ile)
c.499T>A (p.Phe167Ile)
n.499T>A
7g.127613790G>ACA457524944PAX4c.528C>T (p.Ile176=)
c.504C>T (p.Ile168=)
c.498C>T (p.Ile166=)
n.498C>T
7g.127613790G>CCA369174385PAX4c.528C>G (p.Ile176Met)
c.504C>G (p.Ile168Met)
c.498C>G (p.Ile166Met)
n.498C>G
7g.127613790G=CA1742009442PAX4c.528C= (p.Ile176=)
c.504C= (p.Ile168=)
c.498C= (p.Ile166=)
n.498C=
7g.127613790G>TCA166112991PAX4c.528C>A (p.Ile176=)
c.504C>A (p.Ile168=)
c.498C>A (p.Ile166=)
n.498C>A
 dbSNP gnomAD v2
7g.127613791A>CCA369174388PAX4c.527T>G (p.Ile176Ser)
c.503T>G (p.Ile168Ser)
c.497T>G (p.Ile166Ser)
n.497T>G
7g.127613791A>GCA369174391PAX4c.527T>C (p.Ile176Thr)
c.503T>C (p.Ile168Thr)
c.497T>C (p.Ile166Thr)
n.497T>C
7g.127613791A>TCA369174389PAX4c.527T>A (p.Ile176Asn)
c.503T>A (p.Ile168Asn)
c.497T>A (p.Ile166Asn)
n.497T>A
 gnomAD v4
7g.127613792T>ACA369174394PAX4c.526A>T (p.Ile176Phe)
c.502A>T (p.Ile168Phe)
c.496A>T (p.Ile166Phe)
n.496A>T
7g.127613792T>CCA166113026PAX4c.526A>G (p.Ile176Val)
c.502A>G (p.Ile168Val)
c.496A>G (p.Ile166Val)
n.496A>G
 dbSNP gnomAD v3 gnomAD v4
7g.127613792T>GCA369174397PAX4c.526A>C (p.Ile176Leu)
c.502A>C (p.Ile168Leu)
c.496A>C (p.Ile166Leu)
n.496A>C
7g.127613792T=CA1742009443PAX4c.526A= (p.Ile176=)
c.502A= (p.Ile168=)
c.496A= (p.Ile166=)
n.496A=
7g.127613793A>CCA457524945PAX4c.525T>G (p.Thr175=)
c.501T>G (p.Thr167=)
c.495T>G (p.Thr165=)
n.495T>G
7g.127613793A>GCA457524946PAX4c.525T>C (p.Thr175=)
c.501T>C (p.Thr167=)
c.495T>C (p.Thr165=)
n.495T>C
7g.127613793A>TCA457524947PAX4c.525T>A (p.Thr175=)
c.501T>A (p.Thr167=)
c.495T>A (p.Thr165=)
n.495T>A
7g.127613794G>ACA369174399PAX4c.524C>T (p.Thr175Ile)
c.500C>T (p.Thr167Ile)
c.494C>T (p.Thr165Ile)
n.494C>T
7g.127613794G>CCA369174401PAX4c.524C>G (p.Thr175Ser)
c.500C>G (p.Thr167Ser)
c.494C>G (p.Thr165Ser)
n.494C>G
 dbSNP gnomAD v2 gnomAD v4
7g.127613794G=CA1742009446PAX4c.524C= (p.Thr175=)
c.500C= (p.Thr167=)
c.494C= (p.Thr165=)
n.494C=
7g.127613794G>TCA369174403PAX4c.524C>A (p.Thr175Asn)
c.500C>A (p.Thr167Asn)
c.494C>A (p.Thr165Asn)
n.494C>A
7g.127613795T>ACA369174405PAX4c.523A>T (p.Thr175Ser)
c.499A>T (p.Thr167Ser)
c.493A>T (p.Thr165Ser)
n.493A>T
7g.127613795T>CCA369174407PAX4c.523A>G (p.Thr175Ala)
c.499A>G (p.Thr167Ala)
c.493A>G (p.Thr165Ala)
n.493A>G
 dbSNP gnomAD v2 gnomAD v4
7g.127613795T>GCA369174409PAX4c.523A>C (p.Thr175Pro)
c.499A>C (p.Thr167Pro)
c.493A>C (p.Thr165Pro)
n.493A>C
7g.127613795T=CA1742009447PAX4c.523A= (p.Thr175=)
c.499A= (p.Thr167=)
c.493A= (p.Thr165=)
n.493A=
7g.127613796C>ACA457524948PAX4c.522G>T (p.Arg174=)
c.498G>T (p.Arg166=)
c.492G>T (p.Arg164=)
n.492G>T
 gnomAD v4
7g.127613796C>GCA457524949PAX4c.522G>C (p.Arg174=)
c.498G>C (p.Arg166=)
c.492G>C (p.Arg164=)
n.492G>C
7g.127613796C>TCA457524950PAX4c.522G>A (p.Arg174=)
c.498G>A (p.Arg166=)
c.492G>A (p.Arg164=)
n.492G>A
7g.127613797C>ACA369174411PAX4c.521G>T (p.Arg174Leu)
c.497G>T (p.Arg166Leu)
c.491G>T (p.Arg164Leu)
n.491G>T
 dbSNP gnomAD v4 COSMIC COSMIC
7g.127613797C=CA1742009450PAX4c.521G= (p.Arg174=)
c.497G= (p.Arg166=)
c.491G= (p.Arg164=)
n.491G=
7g.127613797C>GCA369174413PAX4c.521G>C (p.Arg174Pro)
c.497G>C (p.Arg166Pro)
c.491G>C (p.Arg164Pro)
n.491G>C
7g.127613797C>TCA4468056PAX4c.521G>A (p.Arg174Gln)
c.497G>A (p.Arg166Gln)
c.491G>A (p.Arg164Gln)
n.491G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.127613798G>ACA4468057PAX4c.520C>T (p.Arg174Trp)
c.496C>T (p.Arg166Trp)
c.490C>T (p.Arg164Trp)
n.490C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
7g.127613798G>CCA369174416PAX4c.520C>G (p.Arg174Gly)
c.496C>G (p.Arg166Gly)
c.490C>G (p.Arg164Gly)
n.490C>G
7g.127613798G=CA1742009451PAX4c.520C= (p.Arg174=)
c.496C= (p.Arg166=)
c.490C= (p.Arg164=)
n.490C=
7g.127613798G>TCA457524951PAX4c.520C>A (p.Arg174=)
c.496C>A (p.Arg166=)
c.490C>A (p.Arg164=)
n.490C>A
7g.127613799A>CCA369174420PAX4c.519T>G (p.Asn173Lys)
c.495T>G (p.Asn165Lys)
c.489T>G (p.Asn163Lys)
n.489T>G
7g.127613799A>GCA457524952PAX4c.519T>C (p.Asn173=)
c.495T>C (p.Asn165=)
c.489T>C (p.Asn163=)
n.489T>C
7g.127613799A>TCA369174421PAX4c.519T>A (p.Asn173Lys)
c.495T>A (p.Asn165Lys)
c.489T>A (p.Asn163Lys)
n.489T>A
7g.127613800T>ACA369174424PAX4c.518A>T (p.Asn173Ile)
c.494A>T (p.Asn165Ile)
c.488A>T (p.Asn163Ile)
n.488A>T
7g.127613800T>CCA369174425PAX4c.518A>G (p.Asn173Ser)
c.494A>G (p.Asn165Ser)
c.488A>G (p.Asn163Ser)
n.488A>G
7g.127613800T>GCA369174427PAX4c.518A>C (p.Asn173Thr)
c.494A>C (p.Asn165Thr)
c.488A>C (p.Asn163Thr)
n.488A>C
7g.127613801T>ACA369174430PAX4c.517A>T (p.Asn173Tyr)
c.493A>T (p.Asn165Tyr)
c.487A>T (p.Asn163Tyr)
n.487A>T
7g.127613801T>CCA369174432PAX4c.517A>G (p.Asn173Asp)
c.493A>G (p.Asn165Asp)
c.487A>G (p.Asn163Asp)
n.487A>G
7g.127613801T>GCA369174434PAX4c.517A>C (p.Asn173His)
c.493A>C (p.Asn165His)
c.487A>C (p.Asn163His)
n.487A>C
7g.127613802C>ACA457524953PAX4c.516G>T (p.Arg172=)
c.492G>T (p.Arg164=)
c.486G>T (p.Arg162=)
n.486G>T
 COSMIC COSMIC
7g.127613802C=CA1742009452PAX4c.516G= (p.Arg172=)
c.492G= (p.Arg164=)
c.486G= (p.Arg162=)
n.486G=
7g.127613802C>GCA457524954PAX4c.516G>C (p.Arg172=)
c.492G>C (p.Arg164=)
c.486G>C (p.Arg162=)
n.486G>C
7g.127613802C>TCA4468058PAX4c.516G>A (p.Arg172=)
c.492G>A (p.Arg164=)
c.486G>A (p.Arg162=)
n.486G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.127613803C>ACA369174436PAX4c.515G>T (p.Arg172Leu)
c.491G>T (p.Arg164Leu)
c.485G>T (p.Arg162Leu)
n.485G>T
7g.127613803C=CA1742009454PAX4c.515G= (p.Arg172=)
c.491G= (p.Arg164=)
c.485G= (p.Arg162=)
n.485G=
7g.127613803C>GCA369174438PAX4c.515G>C (p.Arg172Pro)
c.491G>C (p.Arg164Pro)
c.485G>C (p.Arg162Pro)
n.485G>C
7g.127613803C>TCA231370PAX4c.515G>A (p.Arg172Gln)
c.491G>A (p.Arg164Gln)
c.485G>A (p.Arg162Gln)
n.485G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
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

Number of alleles fetched