Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.180266436_180266437delinsCACA1210607143LHX4c.293_294delinsCA (p.Pro98=)
c.230_231delinsCA
c.110_111delinsCA (p.Pro37=)
c.68_69delinsCA (p.Pro23=)
1g.180266437A=CA1210607145LHX4c.294A= (p.Pro98=)
c.231A=
c.111A= (p.Pro37=)
c.69A= (p.Pro23=)
1g.180266437A>CCA422047467LHX4c.294A>C (p.Pro98=)
c.231A>C
c.111A>C (p.Pro37=)
c.69A>C (p.Pro23=)
1g.180266437A>GCA422047468LHX4c.294A>G (p.Pro98=)
c.231A>G
c.111A>G (p.Pro37=)
c.69A>G (p.Pro23=)
dbSNP gnomAD v4
1g.180266437A>TCA422047469LHX4c.294A>T (p.Pro98=)
c.231A>T
c.111A>T (p.Pro37=)
c.69A>T (p.Pro23=)
1g.180266438delCA10602742LHX4c.295del (p.Thr99ProfsTer?)
c.232del
c.112del (p.Thr38ProfsTer?)
c.70del (p.Thr24ProfsTer?)
ClinVar dbSNP
1g.180266438A=CA1210607148LHX4c.295A= (p.Thr99=)
c.232A=
c.112A= (p.Thr38=)
c.70A= (p.Thr24=)
1g.180266438A>CCA343595492LHX4c.295A>C (p.Thr99Pro)
c.232A>C
c.112A>C (p.Thr38Pro)
c.70A>C (p.Thr24Pro)
1g.180266438A>GCA1271856LHX4c.295A>G (p.Thr99Ala)
c.232A>G
c.112A>G (p.Thr38Ala)
c.70A>G (p.Thr24Ala)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.180266438A>TCA343595494LHX4c.295A>T (p.Thr99Ser)
c.232A>T
c.112A>T (p.Thr38Ser)
c.70A>T (p.Thr24Ser)
1g.180266439C>ACA343595499LHX4c.296C>A (p.Thr99Asn)
c.233C>A
c.113C>A (p.Thr38Asn)
c.71C>A (p.Thr24Asn)
1g.180266439C>GCA343595496LHX4c.296C>G (p.Thr99Ser)
c.233C>G
c.113C>G (p.Thr38Ser)
c.71C>G (p.Thr24Ser)
1g.180266439C>TCA343595497LHX4c.296C>T (p.Thr99Ile)
c.233C>T
c.113C>T (p.Thr38Ile)
c.71C>T (p.Thr24Ile)
dbSNP
1g.180266441delCA2606107915LHX4c.298del (p.Gln100ArgfsTer?)
c.235del
c.115del (p.Gln39ArgfsTer?)
c.73del (p.Gln25ArgfsTer?)
gnomAD v3 gnomAD v4
1g.180266440C>ACA422047470LHX4c.297C>A (p.Thr99=)
c.234C>A
c.114C>A (p.Thr38=)
c.72C>A (p.Thr24=)
1g.180266440C>GCA422047471LHX4c.297C>G (p.Thr99=)
c.234C>G
c.114C>G (p.Thr38=)
c.72C>G (p.Thr24=)
1g.180266440C>TCA422047472LHX4c.297C>T (p.Thr99=)
c.234C>T
c.114C>T (p.Thr38=)
c.72C>T (p.Thr24=)
1g.180266441C>ACA343595501LHX4c.298C>A (p.Gln100Lys)
c.235C>A
c.115C>A (p.Gln39Lys)
c.73C>A (p.Gln25Lys)
COSMIC
1g.180266441C>GCA343595503LHX4c.298C>G (p.Gln100Glu)
c.235C>G
c.115C>G (p.Gln39Glu)
c.73C>G (p.Gln25Glu)
1g.180266441C>TCA343595504LHX4c.298C>T (p.Gln100Ter)
c.235C>T
c.115C>T (p.Gln39Ter)
c.73C>T (p.Gln25Ter)
1g.180266442A>CCA343595506LHX4c.299A>C (p.Gln100Pro)
c.236A>C
c.116A>C (p.Gln39Pro)
c.74A>C (p.Gln25Pro)
1g.180266442A>GCA343595508LHX4c.299A>G (p.Gln100Arg)
c.236A>G
c.116A>G (p.Gln39Arg)
c.74A>G (p.Gln25Arg)
1g.180266442A>TCA343595509LHX4c.299A>T (p.Gln100Leu)
c.236A>T
c.116A>T (p.Gln39Leu)
c.74A>T (p.Gln25Leu)
1g.180266443G>ACA422047473LHX4c.300G>A (p.Gln100=)
c.237G>A
c.117G>A (p.Gln39=)
c.75G>A (p.Gln25=)
1g.180266443G>CCA343595511LHX4c.300G>C (p.Gln100His)
c.237G>C
c.117G>C (p.Gln39His)
c.75G>C (p.Gln25His)
ClinVar dbSNP gnomAD v4
1g.180266443G=CA1210607150LHX4c.300G= (p.Gln100=)
c.237G=
c.117G= (p.Gln39=)
c.75G= (p.Gln25=)
1g.180266443G>TCA343595513LHX4c.300G>T (p.Gln100His)
c.237G>T
c.117G>T (p.Gln39His)
c.75G>T (p.Gln25His)
dbSNP gnomAD v2 gnomAD v4
1g.180266444G>ACA343595518LHX4c.301G>A (p.Val101Met)
c.238G>A
c.118G>A (p.Val40Met)
c.76G>A (p.Val26Met)
1g.180266444G>CCA343595517LHX4c.301G>C (p.Val101Leu)
c.238G>C
c.118G>C (p.Val40Leu)
c.76G>C (p.Val26Leu)
1g.180266444G=CA1210607152LHX4c.301G= (p.Val101=)
c.238G=
c.118G= (p.Val40=)
c.76G= (p.Val26=)
1g.180266444G>TCA343595515LHX4c.301G>T (p.Val101Leu)
c.238G>T
c.118G>T (p.Val40Leu)
c.76G>T (p.Val26Leu)
dbSNP
1g.180266445T>ACA343595519LHX4c.302T>A (p.Val101Glu)
c.239T>A
c.119T>A (p.Val40Glu)
c.77T>A (p.Val26Glu)
1g.180266445T>CCA343595520LHX4c.302T>C (p.Val101Ala)
c.239T>C
c.119T>C (p.Val40Ala)
c.77T>C (p.Val26Ala)
1g.180266445T>GCA343595522LHX4c.302T>G (p.Val101Gly)
c.239T>G
c.119T>G (p.Val40Gly)
c.77T>G (p.Val26Gly)
1g.180266446G>ACA422047474LHX4c.303G>A (p.Val101=)
c.240G>A
c.120G>A (p.Val40=)
c.78G>A (p.Val26=)
1g.180266446G>CCA422047475LHX4c.303G>C (p.Val101=)
c.240G>C
c.120G>C (p.Val40=)
c.78G>C (p.Val26=)
1g.180266446G>TCA422047476LHX4c.303G>T (p.Val101=)
c.240G>T
c.120G>T (p.Val40=)
c.78G>T (p.Val26=)
1g.180266447G>ACA1271857LHX4c.304G>A (p.Val102Ile)
c.241G>A
c.121G>A (p.Val41Ile)
c.79G>A (p.Val27Ile)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.180266447G>CCA343595523LHX4c.304G>C (p.Val102Leu)
c.241G>C
c.121G>C (p.Val41Leu)
c.79G>C (p.Val27Leu)
1g.180266447G=CA1210607154LHX4c.304G= (p.Val102=)
c.241G=
c.121G= (p.Val41=)
c.79G= (p.Val27=)
1g.180266447G>TCA343595524LHX4c.304G>T (p.Val102Phe)
c.241G>T
c.121G>T (p.Val41Phe)
c.79G>T (p.Val27Phe)
gnomAD v4
1g.180266448T>ACA343595525LHX4c.305T>A (p.Val102Asp)
c.242T>A
c.122T>A (p.Val41Asp)
c.80T>A (p.Val27Asp)
1g.180266448T>CCA343595527LHX4c.305T>C (p.Val102Ala)
c.242T>C
c.122T>C (p.Val41Ala)
c.80T>C (p.Val27Ala)
1g.180266448T>GCA343595529LHX4c.305T>G (p.Val102Gly)
c.242T>G
c.122T>G (p.Val41Gly)
c.80T>G (p.Val27Gly)
1g.180266449C>ACA422047480LHX4c.306C>A (p.Val102=)
c.243C>A
c.123C>A (p.Val41=)
c.81C>A (p.Val27=)
gnomAD v4
1g.180266449C=CA1210607156LHX4c.306C= (p.Val102=)
c.243C=
c.123C= (p.Val41=)
c.81C= (p.Val27=)
1g.180266449C>GCA422047478LHX4c.306C>G (p.Val102=)
c.243C>G
c.123C>G (p.Val41=)
c.81C>G (p.Val27=)
dbSNP
1g.180266449C>TCA422047479LHX4c.306C>T (p.Val102=)
c.243C>T
c.123C>T (p.Val41=)
c.81C>T (p.Val27=)
1g.180266450C>ACA343595531LHX4c.307C>A (p.Arg103Ser)
c.244C>A
c.124C>A (p.Arg42Ser)
c.82C>A (p.Arg28Ser)
1g.180266450C=CA1210607158LHX4c.307C= (p.Arg103=)
c.244C=
c.124C= (p.Arg42=)
c.82C= (p.Arg28=)
1g.180266450C>GCA343595532LHX4c.307C>G (p.Arg103Gly)
c.244C>G
c.124C>G (p.Arg42Gly)
c.82C>G (p.Arg28Gly)
1g.180266450C>TCA1271858LHX4c.307C>T (p.Arg103Cys)
c.244C>T
c.124C>T (p.Arg42Cys)
c.82C>T (p.Arg28Cys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.180266451G>ACA33776172LHX4c.308G>A (p.Arg103His)
c.245G>A
c.125G>A (p.Arg42His)
c.83G>A (p.Arg28His)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.180266451G>CCA343595537LHX4c.308G>C (p.Arg103Pro)
c.245G>C
c.125G>C (p.Arg42Pro)
c.83G>C (p.Arg28Pro)
1g.180266451G=CA1210607160LHX4c.308G= (p.Arg103=)
c.245G=
c.125G= (p.Arg42=)
c.83G= (p.Arg28=)
1g.180266451G>TCA343595535LHX4c.308G>T (p.Arg103Leu)
c.245G>T
c.125G>T (p.Arg42Leu)
c.83G>T (p.Arg28Leu)
1g.180266452C>ACA422047486LHX4c.309C>A (p.Arg103=)
c.246C>A
c.126C>A (p.Arg42=)
c.84C>A (p.Arg28=)
1g.180266452C>GCA422047485LHX4c.309C>G (p.Arg103=)
c.246C>G
c.126C>G (p.Arg42=)
c.84C>G (p.Arg28=)
1g.180266452C>TCA422047483LHX4c.309C>T (p.Arg103=)
c.246C>T
c.126C>T (p.Arg42=)
c.84C>T (p.Arg28=)
1g.180266453A=CA1210607162LHX4c.310A= (p.Lys104=)
c.247A=
c.127A= (p.Lys43=)
c.85A= (p.Lys29=)
1g.180266453A>CCA343595538LHX4c.310A>C (p.Lys104Gln)
c.247A>C
c.127A>C (p.Lys43Gln)
c.85A>C (p.Lys29Gln)
1g.180266453A>GCA343595540LHX4c.310A>G (p.Lys104Glu)
c.247A>G
c.127A>G (p.Lys43Glu)
c.85A>G (p.Lys29Glu)
dbSNP gnomAD v3 gnomAD v4
1g.180266453A>TCA343595541LHX4c.310A>T (p.Lys104Ter)
c.247A>T
c.127A>T (p.Lys43Ter)
c.85A>T (p.Lys29Ter)
1g.180266454dupCA2840619698LHX4c.311dup (p.Ala105GlyfsTer?)
c.248dup
c.128dup (p.Ala44GlyfsTer?)
c.86dup (p.Ala30GlyfsTer?)
1g.180266454A>CCA343595543LHX4c.311A>C (p.Lys104Thr)
c.248A>C
c.128A>C (p.Lys43Thr)
c.86A>C (p.Lys29Thr)
1g.180266454A>GCA343595544LHX4c.311A>G (p.Lys104Arg)
c.248A>G
c.128A>G (p.Lys43Arg)
c.86A>G (p.Lys29Arg)
1g.180266454A>TCA343595545LHX4c.311A>T (p.Lys104Met)
c.248A>T
c.128A>T (p.Lys43Met)
c.86A>T (p.Lys29Met)
1g.180266455G>ACA422047488LHX4c.312G>A (p.Lys104=)
c.249G>A
c.129G>A (p.Lys43=)
c.87G>A (p.Lys29=)
1g.180266455G>CCA343595547LHX4c.312G>C (p.Lys104Asn)
c.249G>C
c.129G>C (p.Lys43Asn)
c.87G>C (p.Lys29Asn)
1g.180266455G>TCA343595548LHX4c.312G>T (p.Lys104Asn)
c.249G>T
c.129G>T (p.Lys43Asn)
c.87G>T (p.Lys29Asn)
1g.180266456G>ACA343595550LHX4c.313G>A (p.Ala105Thr)
c.250G>A
c.130G>A (p.Ala44Thr)
c.88G>A (p.Ala30Thr)
1g.180266456G>CCA343595552LHX4c.313G>C (p.Ala105Pro)
c.250G>C
c.130G>C (p.Ala44Pro)
c.88G>C (p.Ala30Pro)
1g.180266456G>TCA343595553LHX4c.313G>T (p.Ala105Ser)
c.250G>T
c.130G>T (p.Ala44Ser)
c.88G>T (p.Ala30Ser)
1g.180266457C>ACA343595557LHX4c.314C>A (p.Ala105Asp)
c.251C>A
c.131C>A (p.Ala44Asp)
c.89C>A (p.Ala30Asp)
1g.180266457C>GCA343595558LHX4c.314C>G (p.Ala105Gly)
c.251C>G
c.131C>G (p.Ala44Gly)
c.89C>G (p.Ala30Gly)
1g.180266457C>TCA343595555LHX4c.314C>T (p.Ala105Val)
c.251C>T
c.131C>T (p.Ala44Val)
c.89C>T (p.Ala30Val)
1g.180266458C>ACA422047491LHX4c.315C>A (p.Ala105=)
c.252C>A
c.132C>A (p.Ala44=)
c.90C>A (p.Ala30=)
1g.180266458C>GCA422047492LHX4c.315C>G (p.Ala105=)
c.252C>G
c.132C>G (p.Ala44=)
c.90C>G (p.Ala30=)
1g.180266458C>TCA422047493LHX4c.315C>T (p.Ala105=)
c.252C>T
c.132C>T (p.Ala44=)
c.90C>T (p.Ala30=)
1g.180266459C>ACA343595560LHX4c.316C>A (p.Gln106Lys)
c.253C>A
c.133C>A (p.Gln45Lys)
c.91C>A (p.Gln31Lys)
1g.180266459C>GCA343595561LHX4c.316C>G (p.Gln106Glu)
c.253C>G
c.133C>G (p.Gln45Glu)
c.91C>G (p.Gln31Glu)
1g.180266459C>TCA343595562LHX4c.316C>T (p.Gln106Ter)
c.253C>T
c.133C>T (p.Gln45Ter)
c.91C>T (p.Gln31Ter)
1g.180266460A=CA1210607169LHX4c.317A= (p.Gln106=)
c.254A=
c.134A= (p.Gln45=)
c.92A= (p.Gln31=)
1g.180266460A>CCA343595564LHX4c.317A>C (p.Gln106Pro)
c.254A>C
c.134A>C (p.Gln45Pro)
c.92A>C (p.Gln31Pro)
1g.180266460A>GCA1271859LHX4c.317A>G (p.Gln106Arg)
c.254A>G
c.134A>G (p.Gln45Arg)
c.92A>G (p.Gln31Arg)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.180266460A>TCA343595566LHX4c.317A>T (p.Gln106Leu)
c.254A>T
c.134A>T (p.Gln45Leu)
c.92A>T (p.Gln31Leu)
1g.180266461G>ACA422047496LHX4c.318G>A (p.Gln106=)
c.255G>A
c.135G>A (p.Gln45=)
c.93G>A (p.Gln31=)
1g.180266461G>CCA343595568LHX4c.318G>C (p.Gln106His)
c.255G>C
c.135G>C (p.Gln45His)
c.93G>C (p.Gln31His)
1g.180266461G>TCA343595569LHX4c.318G>T (p.Gln106His)
c.255G>T
c.135G>T (p.Gln45His)
c.93G>T (p.Gln31His)
1g.180266462G>ACA343595571LHX4c.319G>A (p.Asp107Asn)
c.256G>A
c.136G>A (p.Asp46Asn)
c.94G>A (p.Asp32Asn)
gnomAD v4
1g.180266462G>CCA343595573LHX4c.319G>C (p.Asp107His)
c.256G>C
c.136G>C (p.Asp46His)
c.94G>C (p.Asp32His)
1g.180266462G>TCA343595575LHX4c.319G>T (p.Asp107Tyr)
c.256G>T
c.136G>T (p.Asp46Tyr)
c.94G>T (p.Asp32Tyr)
1g.180266463A>CCA343595576LHX4c.320A>C (p.Asp107Ala)
c.257A>C
c.137A>C (p.Asp46Ala)
c.95A>C (p.Asp32Ala)
1g.180266463A>GCA343595578LHX4c.320A>G (p.Asp107Gly)
c.257A>G
c.137A>G (p.Asp46Gly)
c.95A>G (p.Asp32Gly)
1g.180266463A>TCA343595579LHX4c.320A>T (p.Asp107Val)
c.257A>T
c.137A>T (p.Asp46Val)
c.95A>T (p.Asp32Val)
1g.180266464C>ACA343595582LHX4c.321C>A (p.Asp107Glu)
c.258C>A
c.138C>A (p.Asp46Glu)
c.96C>A (p.Asp32Glu)
1g.180266464C>GCA343595581LHX4c.321C>G (p.Asp107Glu)
c.258C>G
c.138C>G (p.Asp46Glu)
c.96C>G (p.Asp32Glu)
1g.180266464C>TCA422047498LHX4c.321C>T (p.Asp107=)
c.258C>T
c.138C>T (p.Asp46=)
c.96C>T (p.Asp32=)
1g.180266465T>ACA343595584LHX4c.322T>A (p.Phe108Ile)
c.259T>A
c.139T>A (p.Phe47Ile)
c.97T>A (p.Phe33Ile)
dbSNP
1g.180266465T>CCA343595587LHX4c.322T>C (p.Phe108Leu)
c.259T>C
c.139T>C (p.Phe47Leu)
c.97T>C (p.Phe33Leu)
1g.180266465T>GCA343595585LHX4c.322T>G (p.Phe108Val)
c.259T>G
c.139T>G (p.Phe47Val)
c.97T>G (p.Phe33Val)
1g.180266465T=CA1210607172LHX4c.322T= (p.Phe108=)
c.259T=
c.139T= (p.Phe47=)
c.97T= (p.Phe33=)
1g.180266466T>ACA343595589LHX4c.323T>A (p.Phe108Tyr)
c.260T>A
c.140T>A (p.Phe47Tyr)
c.98T>A (p.Phe33Tyr)
1g.180266466T>CCA343595591LHX4c.323T>C (p.Phe108Ser)
c.260T>C
c.140T>C (p.Phe47Ser)
c.98T>C (p.Phe33Ser)
1g.180266466T>GCA343595592LHX4c.323T>G (p.Phe108Cys)
c.260T>G
c.140T>G (p.Phe47Cys)
c.98T>G (p.Phe33Cys)
1g.180266467T>ACA343595593LHX4c.324T>A (p.Phe108Leu)
c.261T>A
c.141T>A (p.Phe47Leu)
c.99T>A (p.Phe33Leu)
1g.180266467T>CCA422047501LHX4c.324T>C (p.Phe108=)
c.261T>C
c.141T>C (p.Phe47=)
c.99T>C (p.Phe33=)
dbSNP gnomAD v4
1g.180266467T>GCA343595595LHX4c.324T>G (p.Phe108Leu)
c.261T>G
c.141T>G (p.Phe47Leu)
c.99T>G (p.Phe33Leu)
1g.180266468G>ACA343595599LHX4c.325G>A (p.Val109Ile)
c.262G>A
c.142G>A (p.Val48Ile)
c.100G>A (p.Val34Ile)
gnomAD v4
1g.180266468G>CCA343595598LHX4c.325G>C (p.Val109Leu)
c.262G>C
c.142G>C (p.Val48Leu)
c.100G>C (p.Val34Leu)
1g.180266468G=CA1210607174LHX4c.325G= (p.Val109=)
c.262G=
c.142G= (p.Val48=)
c.100G= (p.Val34=)
1g.180266468G>TCA33776197LHX4c.325G>T (p.Val109Phe)
c.262G>T
c.142G>T (p.Val48Phe)
c.100G>T (p.Val34Phe)
dbSNP
1g.180266469T>ACA343595601LHX4c.326T>A (p.Val109Asp)
c.263T>A
c.143T>A (p.Val48Asp)
c.101T>A (p.Val34Asp)
1g.180266469T>CCA343595602LHX4c.326T>C (p.Val109Ala)
c.263T>C
c.143T>C (p.Val48Ala)
c.101T>C (p.Val34Ala)
1g.180266469T>GCA343595603LHX4c.326T>G (p.Val109Gly)
c.263T>G
c.143T>G (p.Val48Gly)
c.101T>G (p.Val34Gly)
1g.180266470C>ACA422047502LHX4c.327C>A (p.Val109=)
c.264C>A
c.144C>A (p.Val48=)
c.102C>A (p.Val34=)
1g.180266470C>GCA422047504LHX4c.327C>G (p.Val109=)
c.264C>G
c.144C>G (p.Val48=)
c.102C>G (p.Val34=)
1g.180266470C>TCA422047503LHX4c.327C>T (p.Val109=)
c.264C>T
c.144C>T (p.Val48=)
c.102C>T (p.Val34=)
gnomAD v4
1g.180266471T>ACA343595605LHX4c.328T>A (p.Tyr110Asn)
c.265T>A
c.145T>A (p.Tyr49Asn)
c.103T>A (p.Tyr35Asn)
1g.180266471T>CCA343595606LHX4c.328T>C (p.Tyr110His)
c.265T>C
c.145T>C (p.Tyr49His)
c.103T>C (p.Tyr35His)
1g.180266471T>GCA343595607LHX4c.328T>G (p.Tyr110Asp)
c.265T>G
c.145T>G (p.Tyr49Asp)
c.103T>G (p.Tyr35Asp)
1g.180266472A=CA1210604305LHX4c.329A= (p.Tyr110=)
c.266A=
c.146A= (p.Tyr49=)
c.104A= (p.Tyr35=)
1g.180266472A>CCA343595608LHX4c.329A>C (p.Tyr110Ser)
c.266A>C
c.146A>C (p.Tyr49Ser)
c.104A>C (p.Tyr35Ser)
1g.180266472A>GCA343595611LHX4c.329A>G (p.Tyr110Cys)
c.266A>G
c.146A>G (p.Tyr49Cys)
c.104A>G (p.Tyr35Cys)
dbSNP gnomAD v2 gnomAD v4
1g.180266472A>TCA343595610LHX4c.329A>T (p.Tyr110Phe)
c.266A>T
c.146A>T (p.Tyr49Phe)
c.104A>T (p.Tyr35Phe)
1g.180266473C>ACA343595613LHX4c.330C>A (p.Tyr110Ter)
c.267C>A
c.147C>A (p.Tyr49Ter)
c.105C>A (p.Tyr35Ter)
1g.180266473C>GCA343595614LHX4c.330C>G (p.Tyr110Ter)
c.267C>G
c.147C>G (p.Tyr49Ter)
c.105C>G (p.Tyr35Ter)
1g.180266473C>TCA422047505LHX4c.330C>T (p.Tyr110=)
c.267C>T
c.147C>T (p.Tyr49=)
c.105C>T (p.Tyr35=)
1g.180266474C>ACA343595615LHX4c.331C>A (p.His111Asn)
c.268C>A
c.148C>A (p.His50Asn)
c.106C>A (p.His36Asn)
1g.180266474C>GCA343595617LHX4c.331C>G (p.His111Asp)
c.268C>G
c.148C>G (p.His50Asp)
c.106C>G (p.His36Asp)
1g.180266474C>TCA343595618LHX4c.331C>T (p.His111Tyr)
c.268C>T
c.148C>T (p.His50Tyr)
c.106C>T (p.His36Tyr)
ClinVar
1g.180266475A>CCA343595620LHX4c.332A>C (p.His111Pro)
c.269A>C
c.149A>C (p.His50Pro)
c.107A>C (p.His36Pro)
gnomAD v4
1g.180266475A>GCA343595622LHX4c.332A>G (p.His111Arg)
c.269A>G
c.149A>G (p.His50Arg)
c.107A>G (p.His36Arg)
1g.180266475A>TCA343595623LHX4c.332A>T (p.His111Leu)
c.269A>T
c.149A>T (p.His50Leu)
c.107A>T (p.His36Leu)
1g.180266476C>ACA343595625LHX4c.333C>A (p.His111Gln)
c.270C>A
c.150C>A (p.His50Gln)
c.108C>A (p.His36Gln)
1g.180266476C=CA1210604313LHX4c.333C= (p.His111=)
c.270C=
c.150C= (p.His50=)
c.108C= (p.His36=)
1g.180266476C>GCA343595627LHX4c.333C>G (p.His111Gln)
c.270C>G
c.150C>G (p.His50Gln)
c.108C>G (p.His36Gln)
1g.180266476C>TCA1271860LHX4c.333C>T (p.His111=)
c.270C>T
c.150C>T (p.His50=)
c.108C>T (p.His36=)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.180266477C>ACA343595629LHX4c.334C>A (p.Leu112Met)
c.271C>A
c.151C>A (p.Leu51Met)
c.109C>A (p.Leu37Met)
1g.180266477C>GCA343595630LHX4c.334C>G (p.Leu112Val)
c.271C>G
c.151C>G (p.Leu51Val)
c.109C>G (p.Leu37Val)
1g.180266477C>TCA422047510LHX4c.334C>T (p.Leu112=)
c.271C>T
c.151C>T (p.Leu51=)
c.109C>T (p.Leu37=)
1g.180266478T>ACA343595632LHX4c.335T>A (p.Leu112Gln)
c.272T>A
c.152T>A (p.Leu51Gln)
c.110T>A (p.Leu37Gln)
1g.180266478T>CCA343595634LHX4c.335T>C (p.Leu112Pro)
c.272T>C
c.152T>C (p.Leu51Pro)
c.110T>C (p.Leu37Pro)
1g.180266478T>GCA343595636LHX4c.335T>G (p.Leu112Arg)
c.272T>G
c.152T>G (p.Leu51Arg)
c.110T>G (p.Leu37Arg)
1g.180266479G>ACA422047514LHX4c.336G>A (p.Leu112=)
c.273G>A
c.153G>A (p.Leu51=)
c.111G>A (p.Leu37=)
gnomAD v4
1g.180266479G>CCA422047515LHX4c.336G>C (p.Leu112=)
c.273G>C
c.153G>C (p.Leu51=)
c.111G>C (p.Leu37=)
1g.180266479G>TCA422047516LHX4c.336G>T (p.Leu112=)
c.273G>T
c.153G>T (p.Leu51=)
c.111G>T (p.Leu37=)
COSMIC
1g.180266480C>ACA343595637LHX4c.337C>A (p.His113Asn)
c.274C>A
c.154C>A (p.His52Asn)
c.112C>A (p.His38Asn)
1g.180266480C=CA1210604317LHX4c.337C= (p.His113=)
c.274C=
c.154C= (p.His52=)
c.112C= (p.His38=)
1g.180266480C>GCA343595639LHX4c.337C>G (p.His113Asp)
c.274C>G
c.154C>G (p.His52Asp)
c.112C>G (p.His38Asp)
1g.180266480C>TCA33776203LHX4c.337C>T (p.His113Tyr)
c.274C>T
c.154C>T (p.His52Tyr)
c.112C>T (p.His38Tyr)
dbSNP gnomAD v3 gnomAD v4
1g.180266481A=CA1210604323LHX4c.338A= (p.His113=)
c.275A=
c.155A= (p.His52=)
c.113A= (p.His38=)
1g.180266481A>CCA343595644LHX4c.338A>C (p.His113Pro)
c.275A>C
c.155A>C (p.His52Pro)
c.113A>C (p.His38Pro)
1g.180266481A>GCA1271861LHX4c.338A>G (p.His113Arg)
c.275A>G
c.155A>G (p.His52Arg)
c.113A>G (p.His38Arg)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.180266481A>TCA343595642LHX4c.338A>T (p.His113Leu)
c.275A>T
c.155A>T (p.His52Leu)
c.113A>T (p.His38Leu)
1g.180266482C>ACA343595645LHX4c.339C>A (p.His113Gln)
c.276C>A
c.156C>A (p.His52Gln)
c.114C>A (p.His38Gln)
gnomAD v4
1g.180266482C>GCA343595646LHX4c.339C>G (p.His113Gln)
c.276C>G
c.156C>G (p.His52Gln)
c.114C>G (p.His38Gln)
1g.180266482C>TCA422047517LHX4c.339C>T (p.His113=)
c.276C>T
c.156C>T (p.His52=)
c.114C>T (p.His38=)
gnomAD v4
1g.180266483T>ACA343595648LHX4c.340T>A (p.Cys114Ser)
c.277T>A
c.157T>A (p.Cys53Ser)
c.115T>A (p.Cys39Ser)
1g.180266483T>CCA343595650LHX4c.340T>C (p.Cys114Arg)
c.277T>C
c.157T>C (p.Cys53Arg)
c.115T>C (p.Cys39Arg)
1g.180266483T>GCA343595651LHX4c.340T>G (p.Cys114Gly)
c.277T>G
c.157T>G (p.Cys53Gly)
c.115T>G (p.Cys39Gly)
1g.180266484G>ACA343595653LHX4c.341G>A (p.Cys114Tyr)
c.278G>A
c.158G>A (p.Cys53Tyr)
c.116G>A (p.Cys39Tyr)
1g.180266484G>CCA343595656LHX4c.341G>C (p.Cys114Ser)
c.278G>C
c.158G>C (p.Cys53Ser)
c.116G>C (p.Cys39Ser)
1g.180266484G>TCA343595654LHX4c.341G>T (p.Cys114Phe)
c.278G>T
c.158G>T (p.Cys53Phe)
c.116G>T (p.Cys39Phe)
1g.180266485C>ACA343595658LHX4c.342C>A (p.Cys114Ter)
c.279C>A
c.159C>A (p.Cys53Ter)
c.117C>A (p.Cys39Ter)
COSMIC
1g.180266485C=CA1210604325LHX4c.342C= (p.Cys114=)
c.279C=
c.159C= (p.Cys53=)
c.117C= (p.Cys39=)
1g.180266485C>GCA343595660LHX4c.342C>G (p.Cys114Trp)
c.279C>G
c.159C>G (p.Cys53Trp)
c.117C>G (p.Cys39Trp)
1g.180266485C>TCA422047519LHX4c.342C>T (p.Cys114=)
c.279C>T
c.159C>T (p.Cys53=)
c.117C>T (p.Cys39=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.180266486T>ACA343595661LHX4c.343T>A (p.Phe115Ile)
c.280T>A
c.160T>A (p.Phe54Ile)
c.118T>A (p.Phe40Ile)
1g.180266486T>CCA343595663LHX4c.343T>C (p.Phe115Leu)
c.280T>C
c.160T>C (p.Phe54Leu)
c.118T>C (p.Phe40Leu)
1g.180266486T>GCA343595664LHX4c.343T>G (p.Phe115Val)
c.280T>G
c.160T>G (p.Phe54Val)
c.118T>G (p.Phe40Val)
1g.180266487T>ACA343595666LHX4c.344T>A (p.Phe115Tyr)
c.281T>A
c.161T>A (p.Phe54Tyr)
c.119T>A (p.Phe40Tyr)
1g.180266487T>CCA343595667LHX4c.344T>C (p.Phe115Ser)
c.281T>C
c.161T>C (p.Phe54Ser)
c.119T>C (p.Phe40Ser)
1g.180266487T>GCA343595669LHX4c.344T>G (p.Phe115Cys)
c.281T>G
c.161T>G (p.Phe54Cys)
c.119T>G (p.Phe40Cys)
1g.180266488T>ACA343595671LHX4c.345T>A (p.Phe115Leu)
c.282T>A
c.162T>A (p.Phe54Leu)
c.120T>A (p.Phe40Leu)
1g.180266488T>CCA1271862LHX4c.345T>C (p.Phe115=)
c.282T>C
c.162T>C (p.Phe54=)
c.120T>C (p.Phe40=)
dbSNP ExAC
1g.180266488T>GCA343595673LHX4c.345T>G (p.Phe115Leu)
c.282T>G
c.162T>G (p.Phe54Leu)
c.120T>G (p.Phe40Leu)
1g.180266488T=CA1210604329LHX4c.345T= (p.Phe115=)
c.282T=
c.162T= (p.Phe54=)
c.120T= (p.Phe40=)
1g.180266489G>ACA343595674LHX4c.346G>A (p.Ala116Thr)
c.283G>A
c.163G>A (p.Ala55Thr)
c.121G>A (p.Ala41Thr)
1g.180266489G>CCA343595678LHX4c.346G>C (p.Ala116Pro)
c.283G>C
c.163G>C (p.Ala55Pro)
c.121G>C (p.Ala41Pro)
1g.180266489G>TCA343595676LHX4c.346G>T (p.Ala116Ser)
c.283G>T
c.163G>T (p.Ala55Ser)
c.121G>T (p.Ala41Ser)
1g.180266490C>ACA343595680LHX4c.347C>A (p.Ala116Asp)
c.284C>A
c.164C>A (p.Ala55Asp)
c.122C>A (p.Ala41Asp)
1g.180266490C>GCA343595682LHX4c.347C>G (p.Ala116Gly)
c.284C>G
c.164C>G (p.Ala55Gly)
c.122C>G (p.Ala41Gly)
1g.180266490C>TCA343595681LHX4c.347C>T (p.Ala116Val)
c.284C>T
c.164C>T (p.Ala55Val)
c.122C>T (p.Ala41Val)
1g.180266491T>ACA422047520LHX4c.348T>A (p.Ala116=)
c.285T>A
c.165T>A (p.Ala55=)
c.123T>A (p.Ala41=)
1g.180266491T>CCA422047521LHX4c.348T>C (p.Ala116=)
c.285T>C
c.165T>C (p.Ala55=)
c.123T>C (p.Ala41=)
1g.180266491T>GCA422047522LHX4c.348T>G (p.Ala116=)
c.285T>G
c.165T>G (p.Ala55=)
c.123T>G (p.Ala41=)
1g.180266492T>ACA343595685LHX4c.349T>A (p.Cys117Ser)
c.286T>A
c.166T>A (p.Cys56Ser)
c.124T>A (p.Cys42Ser)
1g.180266492T>CCA343595688LHX4c.349T>C (p.Cys117Arg)
c.286T>C
c.166T>C (p.Cys56Arg)
c.124T>C (p.Cys42Arg)
1g.180266492T>GCA343595686LHX4c.349T>G (p.Cys117Gly)
c.286T>G
c.166T>G (p.Cys56Gly)
c.124T>G (p.Cys42Gly)
1g.180266493G>ACA343595690LHX4c.350G>A (p.Cys117Tyr)
c.287G>A
c.167G>A (p.Cys56Tyr)
c.125G>A (p.Cys42Tyr)
1g.180266493G>CCA343595693LHX4c.350G>C (p.Cys117Ser)
c.287G>C
c.167G>C (p.Cys56Ser)
c.125G>C (p.Cys42Ser)
gnomAD v4
1g.180266493G>TCA343595691LHX4c.350G>T (p.Cys117Phe)
c.287G>T
c.167G>T (p.Cys56Phe)
c.125G>T (p.Cys42Phe)
1g.180266494C>ACA343595694LHX4c.351C>A (p.Cys117Ter)
c.288C>A
c.168C>A (p.Cys56Ter)
c.126C>A (p.Cys42Ter)
1g.180266494C>GCA343595696LHX4c.351C>G (p.Cys117Trp)
c.288C>G
c.168C>G (p.Cys56Trp)
c.126C>G (p.Cys42Trp)
1g.180266494C>TCA422047523LHX4c.351C>T (p.Cys117=)
c.288C>T
c.168C>T (p.Cys56=)
c.126C>T (p.Cys42=)
gnomAD v4
1g.180266495A>CCA343595697LHX4c.352A>C (p.Ile118Leu)
c.289A>C
c.169A>C (p.Ile57Leu)
c.127A>C (p.Ile43Leu)
gnomAD v4
1g.180266495A>GCA343595698LHX4c.352A>G (p.Ile118Val)
c.289A>G
c.169A>G (p.Ile57Val)
c.127A>G (p.Ile43Val)
gnomAD v4
1g.180266495A>TCA343595700LHX4c.352A>T (p.Ile118Phe)
c.289A>T
c.169A>T (p.Ile57Phe)
c.127A>T (p.Ile43Phe)
1g.180266496T>ACA343595701LHX4c.353T>A (p.Ile118Asn)
c.290T>A
c.170T>A (p.Ile57Asn)
c.128T>A (p.Ile43Asn)
1g.180266496T>CCA343595703LHX4c.353T>C (p.Ile118Thr)
c.290T>C
c.170T>C (p.Ile57Thr)
c.128T>C (p.Ile43Thr)
1g.180266496T>GCA343595705LHX4c.353T>G (p.Ile118Ser)
c.290T>G
c.170T>G (p.Ile57Ser)
c.128T>G (p.Ile43Ser)
1g.180266497C>ACA422047529LHX4c.354C>A (p.Ile118=)
c.291C>A
c.171C>A (p.Ile57=)
c.129C>A (p.Ile43=)
1g.180266497C>GCA343595706LHX4c.354C>G (p.Ile118Met)
c.291C>G
c.171C>G (p.Ile57Met)
c.129C>G (p.Ile43Met)
1g.180266497C>TCA422047530LHX4c.354C>T (p.Ile118=)
c.291C>T
c.171C>T (p.Ile57=)
c.129C>T (p.Ile43=)
1g.180266498A>CCA343595708LHX4c.355A>C (p.Ile119Leu)
c.292A>C
c.172A>C (p.Ile58Leu)
c.130A>C (p.Ile44Leu)
1g.180266498A>GCA343595710LHX4c.355A>G (p.Ile119Val)
c.292A>G
c.172A>G (p.Ile58Val)
c.130A>G (p.Ile44Val)
1g.180266498A>TCA343595711LHX4c.355A>T (p.Ile119Phe)
c.292A>T
c.172A>T (p.Ile58Phe)
c.130A>T (p.Ile44Phe)
1g.180266499T>ACA343595713LHX4c.356T>A (p.Ile119Asn)
c.293T>A
c.173T>A (p.Ile58Asn)
c.131T>A (p.Ile44Asn)
1g.180266499T>CCA343595716LHX4c.356T>C (p.Ile119Thr)
c.293T>C
c.173T>C (p.Ile58Thr)
c.131T>C (p.Ile44Thr)
1g.180266499T>GCA343595714LHX4c.356T>G (p.Ile119Ser)
c.293T>G
c.173T>G (p.Ile58Ser)
c.131T>G (p.Ile44Ser)
1g.180266500C>ACA422047531LHX4c.357C>A (p.Ile119=)
c.294C>A
c.174C>A (p.Ile58=)
c.132C>A (p.Ile44=)
1g.180266500C=CA1210604332LHX4c.357C= (p.Ile119=)
c.294C=
c.174C= (p.Ile58=)
c.132C= (p.Ile44=)
1g.180266500C>GCA343595717LHX4c.357C>G (p.Ile119Met)
c.294C>G
c.174C>G (p.Ile58Met)
c.132C>G (p.Ile44Met)
1g.180266500C>TCA422047532LHX4c.357C>T (p.Ile119=)
c.294C>T
c.174C>T (p.Ile58=)
c.132C>T (p.Ile44=)
dbSNP gnomAD v4
1g.180266501T>ACA343595719LHX4c.358T>A (p.Cys120Ser)
c.295T>A
c.175T>A (p.Cys59Ser)
c.133T>A (p.Cys45Ser)
1g.180266501T>CCA343595721LHX4c.358T>C (p.Cys120Arg)
c.295T>C
c.175T>C (p.Cys59Arg)
c.133T>C (p.Cys45Arg)
1g.180266501T>GCA343595722LHX4c.358T>G (p.Cys120Gly)
c.295T>G
c.175T>G (p.Cys59Gly)
c.133T>G (p.Cys45Gly)
1g.180266502G>ACA343595724LHX4c.359G>A (p.Cys120Tyr)
c.296G>A
c.176G>A (p.Cys59Tyr)
c.134G>A (p.Cys45Tyr)
ClinVar dbSNP COSMIC
1g.180266502G>CCA343595726LHX4c.359G>C (p.Cys120Ser)
c.296G>C
c.176G>C (p.Cys59Ser)
c.134G>C (p.Cys45Ser)
1g.180266502G=CA1210604334LHX4c.359G= (p.Cys120=)
c.296G=
c.176G= (p.Cys59=)
c.134G= (p.Cys45=)
1g.180266502G>TCA343595727LHX4c.359G>T (p.Cys120Phe)
c.296G>T
c.176G>T (p.Cys59Phe)
c.134G>T (p.Cys45Phe)
1g.180266503C>ACA343595729LHX4c.360C>A (p.Cys120Ter)
c.297C>A
c.177C>A (p.Cys59Ter)
c.135C>A (p.Cys45Ter)
1g.180266503C=CA1210604338LHX4c.360C= (p.Cys120=)
c.297C=
c.177C= (p.Cys59=)
c.135C= (p.Cys45=)
1g.180266503C>GCA343595731LHX4c.360C>G (p.Cys120Trp)
c.297C>G
c.177C>G (p.Cys59Trp)
c.135C>G (p.Cys45Trp)
1g.180266503C>TCA422047533LHX4c.360C>T (p.Cys120=)
c.297C>T
c.177C>T (p.Cys59=)
c.135C>T (p.Cys45=)
dbSNP gnomAD v3 gnomAD v4
1g.180266504A>CCA343595735LHX4c.361A>C (p.Asn121His)
c.298A>C
c.178A>C (p.Asn60His)
c.136A>C (p.Asn46His)
1g.180266504A>GCA343595734LHX4c.361A>G (p.Asn121Asp)
c.298A>G
c.178A>G (p.Asn60Asp)
c.136A>G (p.Asn46Asp)
1g.180266504A>TCA343595732LHX4c.361A>T (p.Asn121Tyr)
c.298A>T
c.178A>T (p.Asn60Tyr)
c.136A>T (p.Asn46Tyr)
1g.180266505A>CCA343595737LHX4c.362A>C (p.Asn121Thr)
c.299A>C
c.179A>C (p.Asn60Thr)
c.137A>C (p.Asn46Thr)
1g.180266505A>GCA343595739LHX4c.362A>G (p.Asn121Ser)
c.299A>G
c.179A>G (p.Asn60Ser)
c.137A>G (p.Asn46Ser)
gnomAD v4
1g.180266505A>TCA343595741LHX4c.362A>T (p.Asn121Ile)
c.299A>T
c.179A>T (p.Asn60Ile)
c.137A>T (p.Asn46Ile)
1g.180266506C>ACA343595743LHX4c.363C>A (p.Asn121Lys)
c.300C>A
c.180C>A (p.Asn60Lys)
c.138C>A (p.Asn46Lys)
dbSNP gnomAD v2 gnomAD v4
1g.180266506C=CA1210604340LHX4c.363C= (p.Asn121=)
c.300C=
c.180C= (p.Asn60=)
c.138C= (p.Asn46=)
1g.180266506C>GCA343595744LHX4c.363C>G (p.Asn121Lys)
c.300C>G
c.180C>G (p.Asn60Lys)
c.138C>G (p.Asn46Lys)
1g.180266506C>TCA422047534LHX4c.363C>T (p.Asn121=)
c.300C>T
c.180C>T (p.Asn60=)
c.138C>T (p.Asn46=)
gnomAD v4
1g.180266507C>ACA422047535LHX4c.364C>A (p.Arg122=)
c.301C>A
c.181C>A (p.Arg61=)
c.139C>A (p.Arg47=)
dbSNP gnomAD v4
1g.180266507C=CA1143994966LHX4c.364C= (p.Arg122=)
c.301C=
c.181C= (p.Arg61=)
c.139C= (p.Arg47=)
1g.180266507C>GCA343595745LHX4c.364C>G (p.Arg122Gly)
c.301C>G
c.181C>G (p.Arg61Gly)
c.139C>G (p.Arg47Gly)
1g.180266507C>TCA1271863LHX4c.364C>T (p.Arg122Trp)
c.301C>T
c.181C>T (p.Arg61Trp)
c.139C>T (p.Arg47Trp)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.180266508G>ACA1271864LHX4c.365G>A (p.Arg122Gln)
c.302G>A
c.182G>A (p.Arg61Gln)
c.140G>A (p.Arg47Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.180266508G>CCA343595748LHX4c.365G>C (p.Arg122Pro)
c.302G>C
c.182G>C (p.Arg61Pro)
c.140G>C (p.Arg47Pro)
1g.180266508G=CA1143628257LHX4c.365G= (p.Arg122=)
c.302G=
c.182G= (p.Arg61=)
c.140G= (p.Arg47=)
1g.180266508G>TCA343595750LHX4c.365G>T (p.Arg122Leu)
c.302G>T
c.182G>T (p.Arg61Leu)
c.140G>T (p.Arg47Leu)
gnomAD v4
1g.180266509G>ACA422047536LHX4c.366G>A (p.Arg122=)
c.303G>A
c.183G>A (p.Arg61=)
c.141G>A (p.Arg47=)
gnomAD v4
1g.180266509G>CCA422047537LHX4c.366G>C (p.Arg122=)
c.303G>C
c.183G>C (p.Arg61=)
c.141G>C (p.Arg47=)
1g.180266509G>TCA422047538LHX4c.366G>T (p.Arg122=)
c.303G>T
c.183G>T (p.Arg61=)
c.141G>T (p.Arg47=)
1g.180266510C>ACA343595752LHX4c.367C>A (p.Gln123Lys)
c.304C>A
c.184C>A (p.Gln62Lys)
c.142C>A (p.Gln48Lys)
1g.180266510C>GCA343595753LHX4c.367C>G (p.Gln123Glu)
c.304C>G
c.184C>G (p.Gln62Glu)
c.142C>G (p.Gln48Glu)
1g.180266510C>TCA343595755LHX4c.367C>T (p.Gln123Ter)
c.304C>T
c.184C>T (p.Gln62Ter)
c.142C>T (p.Gln48Ter)
1g.180266511A>CCA343595757LHX4c.368A>C (p.Gln123Pro)
c.305A>C
c.185A>C (p.Gln62Pro)
c.143A>C (p.Gln48Pro)
1g.180266511A>GCA343595759LHX4c.368A>G (p.Gln123Arg)
c.305A>G
c.185A>G (p.Gln62Arg)
c.143A>G (p.Gln48Arg)
1g.180266511A>TCA343595758LHX4c.368A>T (p.Gln123Leu)
c.305A>T
c.185A>T (p.Gln62Leu)
c.143A>T (p.Gln48Leu)
1g.180266512G>ACA422047539LHX4c.369G>A (p.Gln123=)
c.306G>A
c.186G>A (p.Gln62=)
c.144G>A (p.Gln48=)
gnomAD v4
1g.180266512G>CCA343595761LHX4c.369G>C (p.Gln123His)
c.306G>C
c.186G>C (p.Gln62His)
c.144G>C (p.Gln48His)
1g.180266512G>TCA343595762LHX4c.369G>T (p.Gln123His)
c.306G>T
c.186G>T (p.Gln62His)
c.144G>T (p.Gln48His)
1g.180266513C>ACA343595764LHX4c.370C>A (p.Leu124Met)
c.307C>A
c.187C>A (p.Leu63Met)
c.145C>A (p.Leu49Met)
1g.180266513C>GCA343595766LHX4c.370C>G (p.Leu124Val)
c.307C>G
c.187C>G (p.Leu63Val)
c.145C>G (p.Leu49Val)
1g.180266513C>TCA422047540LHX4c.370C>T (p.Leu124=)
c.307C>T
c.187C>T (p.Leu63=)
c.145C>T (p.Leu49=)
1g.180266514T>ACA343595768LHX4c.371T>A (p.Leu124Gln)
c.308T>A
c.188T>A (p.Leu63Gln)
c.146T>A (p.Leu49Gln)
1g.180266514T>CCA343595769LHX4c.371T>C (p.Leu124Pro)
c.308T>C
c.188T>C (p.Leu63Pro)
c.146T>C (p.Leu49Pro)
1g.180266514T>GCA343595770LHX4c.371T>G (p.Leu124Arg)
c.308T>G
c.188T>G (p.Leu63Arg)
c.146T>G (p.Leu49Arg)
1g.180266515G>ACA422047541LHX4c.372G>A (p.Leu124=)
c.309G>A
c.189G>A (p.Leu63=)
c.147G>A (p.Leu49=)
1g.180266515G>CCA422047542LHX4c.372G>C (p.Leu124=)
c.309G>C
c.189G>C (p.Leu63=)
c.147G>C (p.Leu49=)
1g.180266515G>TCA422047543LHX4c.372G>T (p.Leu124=)
c.309G>T
c.189G>T (p.Leu63=)
c.147G>T (p.Leu49=)
1g.180266516G>ACA343595773LHX4c.373G>A (p.Ala125Thr)
c.310G>A
c.190G>A (p.Ala64Thr)
c.148G>A (p.Ala50Thr)
1g.180266516G>CCA343595774LHX4c.373G>C (p.Ala125Pro)
c.310G>C
c.190G>C (p.Ala64Pro)
c.148G>C (p.Ala50Pro)
gnomAD v4
1g.180266516G>TCA343595776LHX4c.373G>T (p.Ala125Ser)
c.310G>T
c.190G>T (p.Ala64Ser)
c.148G>T (p.Ala50Ser)
1g.180266517C>ACA343595780LHX4c.374C>A (p.Ala125Asp)
c.311C>A
c.191C>A (p.Ala64Asp)
c.149C>A (p.Ala50Asp)
1g.180266517C>GCA343595779LHX4c.374C>G (p.Ala125Gly)
c.311C>G
c.191C>G (p.Ala64Gly)
c.149C>G (p.Ala50Gly)
1g.180266517C>TCA343595777LHX4c.374C>T (p.Ala125Val)
c.311C>T
c.191C>T (p.Ala64Val)
c.149C>T (p.Ala50Val)
ClinVar
1g.180266518C>ACA422047544LHX4c.375C>A (p.Ala125=)
c.312C>A
c.192C>A (p.Ala64=)
c.150C>A (p.Ala50=)
1g.180266518C=CA1210604350LHX4c.375C= (p.Ala125=)
c.312C=
c.192C= (p.Ala64=)
c.150C= (p.Ala50=)
1g.180266518C>GCA422047545LHX4c.375C>G (p.Ala125=)
c.312C>G
c.192C>G (p.Ala64=)
c.150C>G (p.Ala50=)
1g.180266518C>TCA422047546LHX4c.375C>T (p.Ala125=)
c.312C>T
c.192C>T (p.Ala64=)
c.150C>T (p.Ala50=)
dbSNP gnomAD v4
1g.180266519A>CCA343595782LHX4c.376A>C (p.Thr126Pro)
c.313A>C
c.193A>C (p.Thr65Pro)
c.151A>C (p.Thr51Pro)
1g.180266519A>GCA343595785LHX4c.376A>G (p.Thr126Ala)
c.313A>G
c.193A>G (p.Thr65Ala)
c.151A>G (p.Thr51Ala)
gnomAD v4
1g.180266519A>TCA343595784LHX4c.376A>T (p.Thr126Ser)
c.313A>T
c.193A>T (p.Thr65Ser)
c.151A>T (p.Thr51Ser)
1g.180266520C>ACA343595787LHX4c.377C>A (p.Thr126Lys)
c.314C>A
c.194C>A (p.Thr65Lys)
c.152C>A (p.Thr51Lys)
1g.180266520C=CA1210604355LHX4c.377C= (p.Thr126=)
c.314C=
c.194C= (p.Thr65=)
c.152C= (p.Thr51=)
1g.180266520C>GCA343595789LHX4c.377C>G (p.Thr126Arg)
c.314C>G
c.194C>G (p.Thr65Arg)
c.152C>G (p.Thr51Arg)
1g.180266520C>TCA1271865LHX4c.377C>T (p.Thr126Met)
c.314C>T
c.194C>T (p.Thr65Met)
c.152C>T (p.Thr51Met)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.180266521G>ACA1271866LHX4c.378G>A (p.Thr126=)
c.315G>A
c.195G>A (p.Thr65=)
c.153G>A (p.Thr51=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.180266521G>CCA422047547LHX4c.378G>C (p.Thr126=)
c.315G>C
c.195G>C (p.Thr65=)
c.153G>C (p.Thr51=)
1g.180266521G=CA1210604362LHX4c.378G= (p.Thr126=)
c.315G=
c.195G= (p.Thr65=)
c.153G= (p.Thr51=)
1g.180266521G>TCA422047548LHX4c.378G>T (p.Thr126=)
c.315G>T
c.195G>T (p.Thr65=)
c.153G>T (p.Thr51=)
1g.180266525delCA2573131281LHX4c.382del (p.Asp128ThrfsTer?)
c.319del
c.199del (p.Asp67ThrfsTer?)
c.157del (p.Asp53ThrfsTer?)
ClinVar dbSNP
1g.180266522G>ACA343595792LHX4c.379G>A (p.Gly127Arg)
c.316G>A
c.196G>A (p.Gly66Arg)
c.154G>A (p.Gly52Arg)
1g.180266522G>CCA343595794LHX4c.379G>C (p.Gly127Arg)
c.316G>C
c.196G>C (p.Gly66Arg)
c.154G>C (p.Gly52Arg)
1g.180266522G>TCA343595795LHX4c.379G>T (p.Gly127Trp)
c.316G>T
c.196G>T (p.Gly66Trp)
c.154G>T (p.Gly52Trp)
1g.180266523G>ACA343595797LHX4c.380G>A (p.Gly127Glu)
c.317G>A
c.197G>A (p.Gly66Glu)
c.155G>A (p.Gly52Glu)
1g.180266523G>CCA343595798LHX4c.380G>C (p.Gly127Ala)
c.317G>C
c.197G>C (p.Gly66Ala)
c.155G>C (p.Gly52Ala)
1g.180266523G>TCA343595800LHX4c.380G>T (p.Gly127Val)
c.317G>T
c.197G>T (p.Gly66Val)
c.155G>T (p.Gly52Val)
1g.180266524G>ACA422047549LHX4c.381G>A (p.Gly127=)
c.318G>A
c.198G>A (p.Gly66=)
c.156G>A (p.Gly52=)
1g.180266524G>CCA422047550LHX4c.381G>C (p.Gly127=)
c.318G>C
c.198G>C (p.Gly66=)
c.156G>C (p.Gly52=)
1g.180266524G>TCA422047551LHX4c.381G>T (p.Gly127=)
c.318G>T
c.198G>T (p.Gly66=)
c.156G>T (p.Gly52=)
1g.180266525G>ACA343595805LHX4c.382G>A (p.Asp128Asn)
c.319G>A
c.199G>A (p.Asp67Asn)
c.157G>A (p.Asp53Asn)
gnomAD v4
1g.180266525G>CCA343595803LHX4c.382G>C (p.Asp128His)
c.319G>C
c.199G>C (p.Asp67His)
c.157G>C (p.Asp53His)
1g.180266525G=CA1210604367LHX4c.382G= (p.Asp128=)
c.319G=
c.199G= (p.Asp67=)
c.157G= (p.Asp53=)
1g.180266525G>TCA343595802LHX4c.382G>T (p.Asp128Tyr)
c.319G>T
c.199G>T (p.Asp67Tyr)
c.157G>T (p.Asp53Tyr)
dbSNP gnomAD v2 gnomAD v4
1g.180266526A>CCA343595807LHX4c.383A>C (p.Asp128Ala)
c.320A>C
c.200A>C (p.Asp67Ala)
c.158A>C (p.Asp53Ala)
1g.180266526A>GCA343595809LHX4c.383A>G (p.Asp128Gly)
c.320A>G
c.200A>G (p.Asp67Gly)
c.158A>G (p.Asp53Gly)
1g.180266526A>TCA343595810LHX4c.383A>T (p.Asp128Val)
c.320A>T
c.200A>T (p.Asp67Val)
c.158A>T (p.Asp53Val)
1g.180266527C>ACA343595813LHX4c.384C>A (p.Asp128Glu)
c.321C>A
c.201C>A (p.Asp67Glu)
c.159C>A (p.Asp53Glu)
1g.180266527C=CA1141786923LHX4c.384C= (p.Asp128=)
c.321C=
c.201C= (p.Asp67=)
c.159C= (p.Asp53=)
1g.180266527C>GCA1271868LHX4c.384C>G (p.Asp128Glu)
c.321C>G
c.201C>G (p.Asp67Glu)
c.159C>G (p.Asp53Glu)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.180266527C>TCA1271867LHX4c.384C>T (p.Asp128=)
c.321C>T
c.201C>T (p.Asp67=)
c.159C>T (p.Asp53=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.180266528G>ACA1271869LHX4c.385G>A (p.Glu129Lys)
c.322G>A
c.202G>A (p.Glu68Lys)
c.160G>A (p.Glu54Lys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.180266528G>CCA343595816LHX4c.385G>C (p.Glu129Gln)
c.322G>C
c.202G>C (p.Glu68Gln)
c.160G>C (p.Glu54Gln)
1g.180266528G=CA1142392208LHX4c.385G= (p.Glu129=)
c.322G=
c.202G= (p.Glu68=)
c.160G= (p.Glu54=)
1g.180266528G>TCA343595818LHX4c.385G>T (p.Glu129Ter)
c.322G>T
c.202G>T (p.Glu68Ter)
c.160G>T (p.Glu54Ter)
1g.180266529A=CA1210604384LHX4c.386A= (p.Glu129=)
c.323A=
c.203A= (p.Glu68=)
c.161A= (p.Glu54=)
1g.180266529A>CCA343595819LHX4c.386A>C (p.Glu129Ala)
c.323A>C
c.203A>C (p.Glu68Ala)
c.161A>C (p.Glu54Ala)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.180266529A>GCA343595821LHX4c.386A>G (p.Glu129Gly)
c.323A>G
c.203A>G (p.Glu68Gly)
c.161A>G (p.Glu54Gly)
1g.180266529A>TCA343595823LHX4c.386A>T (p.Glu129Val)
c.323A>T
c.203A>T (p.Glu68Val)
c.161A>T (p.Glu54Val)
1g.180266530A>CCA343595826LHX4c.387A>C (p.Glu129Asp)
c.324A>C
c.204A>C (p.Glu68Asp)
c.162A>C (p.Glu54Asp)
1g.180266530A>GCA422047552LHX4c.387A>G (p.Glu129=)
c.324A>G
c.204A>G (p.Glu68=)
c.162A>G (p.Glu54=)
gnomAD v4
1g.180266530A>TCA343595824LHX4c.387A>T (p.Glu129Asp)
c.324A>T
c.204A>T (p.Glu68Asp)
c.162A>T (p.Glu54Asp)
gnomAD v4
1g.180266531T>ACA343595828LHX4c.388T>A (p.Phe130Ile)
c.325T>A
c.205T>A (p.Phe69Ile)
c.163T>A (p.Phe55Ile)
1g.180266531T>CCA343595830LHX4c.388T>C (p.Phe130Leu)
c.325T>C
c.205T>C (p.Phe69Leu)
c.163T>C (p.Phe55Leu)
1g.180266531T>GCA343595831LHX4c.388T>G (p.Phe130Val)
c.325T>G
c.205T>G (p.Phe69Val)
c.163T>G (p.Phe55Val)
1g.180266532dupCA2840619700LHX4c.389dup (p.Tyr131LeufsTer22)
c.326dup
c.206dup (p.Tyr70LeufsTer22)
c.164dup (p.Tyr56LeufsTer22)
1g.180266532T>ACA343595833LHX4c.389T>A (p.Phe130Tyr)
c.326T>A
c.206T>A (p.Phe69Tyr)
c.164T>A (p.Phe55Tyr)
1g.180266532T>CCA343595834LHX4c.389T>C (p.Phe130Ser)
c.326T>C
c.206T>C (p.Phe69Ser)
c.164T>C (p.Phe55Ser)
1g.180266532T>GCA343595836LHX4c.389T>G (p.Phe130Cys)
c.326T>G
c.206T>G (p.Phe69Cys)
c.164T>G (p.Phe55Cys)
1g.180266533C>ACA343595838LHX4c.390C>A (p.Phe130Leu)
c.327C>A
c.207C>A (p.Phe69Leu)
c.165C>A (p.Phe55Leu)
1g.180266533C>GCA343595839LHX4c.390C>G (p.Phe130Leu)
c.327C>G
c.207C>G (p.Phe69Leu)
c.165C>G (p.Phe55Leu)
1g.180266533C>TCA422047553LHX4c.390C>T (p.Phe130=)
c.327C>T
c.207C>T (p.Phe69=)
c.165C>T (p.Phe55=)
1g.180266534T>ACA343595840LHX4c.391T>A (p.Tyr131Asn)
c.328T>A
c.208T>A (p.Tyr70Asn)
c.166T>A (p.Tyr56Asn)
1g.180266534T>CCA343595842LHX4c.391T>C (p.Tyr131His)
c.328T>C
c.208T>C (p.Tyr70His)
c.166T>C (p.Tyr56His)
dbSNP gnomAD v3 gnomAD v4
1g.180266534T>GCA343595843LHX4c.391T>G (p.Tyr131Asp)
c.328T>G
c.208T>G (p.Tyr70Asp)
c.166T>G (p.Tyr56Asp)
1g.180266534T=CA1210604388LHX4c.391T= (p.Tyr131=)
c.328T=
c.208T= (p.Tyr70=)
c.166T= (p.Tyr56=)
1g.180266535A>CCA343595845LHX4c.392A>C (p.Tyr131Ser)
c.329A>C
c.209A>C (p.Tyr70Ser)
c.167A>C (p.Tyr56Ser)
1g.180266535A>GCA343595847LHX4c.392A>G (p.Tyr131Cys)
c.329A>G
c.209A>G (p.Tyr70Cys)
c.167A>G (p.Tyr56Cys)
1g.180266535A>TCA343595848LHX4c.392A>T (p.Tyr131Phe)
c.329A>T
c.209A>T (p.Tyr70Phe)
c.167A>T (p.Tyr56Phe)
1g.180266536C>ACA343595850LHX4c.393C>A (p.Tyr131Ter)
c.330C>A
c.210C>A (p.Tyr70Ter)
c.168C>A (p.Tyr56Ter)
1g.180266536C>GCA343595851LHX4c.393C>G (p.Tyr131Ter)
c.330C>G
c.210C>G (p.Tyr70Ter)
c.168C>G (p.Tyr56Ter)
1g.180266536C>TCA422047554LHX4c.393C>T (p.Tyr131=)
c.330C>T
c.210C>T (p.Tyr70=)
c.168C>T (p.Tyr56=)
1g.180266537C>ACA343595853LHX4c.394C>A (p.Leu132Ile)
c.331C>A
c.211C>A (p.Leu71Ile)
c.169C>A (p.Leu57Ile)
1g.180266537C=CA1210604392LHX4c.394C= (p.Leu132=)
c.331C=
c.211C= (p.Leu71=)
c.169C= (p.Leu57=)
1g.180266537C>GCA343595854LHX4c.394C>G (p.Leu132Val)
c.331C>G
c.211C>G (p.Leu71Val)
c.169C>G (p.Leu57Val)
gnomAD v4
1g.180266537C>TCA1271870LHX4c.394C>T (p.Leu132Phe)
c.331C>T
c.211C>T (p.Leu71Phe)
c.169C>T (p.Leu57Phe)
dbSNP ExAC gnomAD v2 gnomAD v4

Number of alleles fetched