Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.180266436_180266437delinsCA | CA1210607143 | LHX4 | c.293_294delinsCA (p.Pro98=) c.230_231delinsCA c.110_111delinsCA (p.Pro37=) c.68_69delinsCA (p.Pro23=) | |
1 | g.180266437A= | CA1210607145 | LHX4 | c.294A= (p.Pro98=) c.231A= c.111A= (p.Pro37=) c.69A= (p.Pro23=) | |
1 | g.180266437A>C | CA422047467 | LHX4 | c.294A>C (p.Pro98=) c.231A>C c.111A>C (p.Pro37=) c.69A>C (p.Pro23=) | |
1 | g.180266437A>G | CA422047468 | LHX4 | c.294A>G (p.Pro98=) c.231A>G c.111A>G (p.Pro37=) c.69A>G (p.Pro23=) | dbSNP gnomAD v4 |
1 | g.180266437A>T | CA422047469 | LHX4 | c.294A>T (p.Pro98=) c.231A>T c.111A>T (p.Pro37=) c.69A>T (p.Pro23=) | |
1 | g.180266438del | CA10602742 | LHX4 | c.295del (p.Thr99ProfsTer?) c.232del c.112del (p.Thr38ProfsTer?) c.70del (p.Thr24ProfsTer?) | ClinVar dbSNP |
1 | g.180266438A= | CA1210607148 | LHX4 | c.295A= (p.Thr99=) c.232A= c.112A= (p.Thr38=) c.70A= (p.Thr24=) | |
1 | g.180266438A>C | CA343595492 | LHX4 | c.295A>C (p.Thr99Pro) c.232A>C c.112A>C (p.Thr38Pro) c.70A>C (p.Thr24Pro) | |
1 | g.180266438A>G | CA1271856 | LHX4 | c.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 |
1 | g.180266438A>T | CA343595494 | LHX4 | c.295A>T (p.Thr99Ser) c.232A>T c.112A>T (p.Thr38Ser) c.70A>T (p.Thr24Ser) | |
1 | g.180266439C>A | CA343595499 | LHX4 | c.296C>A (p.Thr99Asn) c.233C>A c.113C>A (p.Thr38Asn) c.71C>A (p.Thr24Asn) | |
1 | g.180266439C>G | CA343595496 | LHX4 | c.296C>G (p.Thr99Ser) c.233C>G c.113C>G (p.Thr38Ser) c.71C>G (p.Thr24Ser) | |
1 | g.180266439C>T | CA343595497 | LHX4 | c.296C>T (p.Thr99Ile) c.233C>T c.113C>T (p.Thr38Ile) c.71C>T (p.Thr24Ile) | dbSNP |
1 | g.180266441del | CA2606107915 | LHX4 | c.298del (p.Gln100ArgfsTer?) c.235del c.115del (p.Gln39ArgfsTer?) c.73del (p.Gln25ArgfsTer?) | gnomAD v3 gnomAD v4 |
1 | g.180266440C>A | CA422047470 | LHX4 | c.297C>A (p.Thr99=) c.234C>A c.114C>A (p.Thr38=) c.72C>A (p.Thr24=) | |
1 | g.180266440C>G | CA422047471 | LHX4 | c.297C>G (p.Thr99=) c.234C>G c.114C>G (p.Thr38=) c.72C>G (p.Thr24=) | |
1 | g.180266440C>T | CA422047472 | LHX4 | c.297C>T (p.Thr99=) c.234C>T c.114C>T (p.Thr38=) c.72C>T (p.Thr24=) | |
1 | g.180266441C>A | CA343595501 | LHX4 | c.298C>A (p.Gln100Lys) c.235C>A c.115C>A (p.Gln39Lys) c.73C>A (p.Gln25Lys) | COSMIC |
1 | g.180266441C>G | CA343595503 | LHX4 | c.298C>G (p.Gln100Glu) c.235C>G c.115C>G (p.Gln39Glu) c.73C>G (p.Gln25Glu) | |
1 | g.180266441C>T | CA343595504 | LHX4 | c.298C>T (p.Gln100Ter) c.235C>T c.115C>T (p.Gln39Ter) c.73C>T (p.Gln25Ter) | |
1 | g.180266442A>C | CA343595506 | LHX4 | c.299A>C (p.Gln100Pro) c.236A>C c.116A>C (p.Gln39Pro) c.74A>C (p.Gln25Pro) | |
1 | g.180266442A>G | CA343595508 | LHX4 | c.299A>G (p.Gln100Arg) c.236A>G c.116A>G (p.Gln39Arg) c.74A>G (p.Gln25Arg) | |
1 | g.180266442A>T | CA343595509 | LHX4 | c.299A>T (p.Gln100Leu) c.236A>T c.116A>T (p.Gln39Leu) c.74A>T (p.Gln25Leu) | |
1 | g.180266443G>A | CA422047473 | LHX4 | c.300G>A (p.Gln100=) c.237G>A c.117G>A (p.Gln39=) c.75G>A (p.Gln25=) | |
1 | g.180266443G>C | CA343595511 | LHX4 | c.300G>C (p.Gln100His) c.237G>C c.117G>C (p.Gln39His) c.75G>C (p.Gln25His) | ClinVar dbSNP gnomAD v4 |
1 | g.180266443G= | CA1210607150 | LHX4 | c.300G= (p.Gln100=) c.237G= c.117G= (p.Gln39=) c.75G= (p.Gln25=) | |
1 | g.180266443G>T | CA343595513 | LHX4 | c.300G>T (p.Gln100His) c.237G>T c.117G>T (p.Gln39His) c.75G>T (p.Gln25His) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.180266444G>A | CA343595518 | LHX4 | c.301G>A (p.Val101Met) c.238G>A c.118G>A (p.Val40Met) c.76G>A (p.Val26Met) | |
1 | g.180266444G>C | CA343595517 | LHX4 | c.301G>C (p.Val101Leu) c.238G>C c.118G>C (p.Val40Leu) c.76G>C (p.Val26Leu) | |
1 | g.180266444G= | CA1210607152 | LHX4 | c.301G= (p.Val101=) c.238G= c.118G= (p.Val40=) c.76G= (p.Val26=) | |
1 | g.180266444G>T | CA343595515 | LHX4 | c.301G>T (p.Val101Leu) c.238G>T c.118G>T (p.Val40Leu) c.76G>T (p.Val26Leu) | dbSNP |
1 | g.180266445T>A | CA343595519 | LHX4 | c.302T>A (p.Val101Glu) c.239T>A c.119T>A (p.Val40Glu) c.77T>A (p.Val26Glu) | |
1 | g.180266445T>C | CA343595520 | LHX4 | c.302T>C (p.Val101Ala) c.239T>C c.119T>C (p.Val40Ala) c.77T>C (p.Val26Ala) | |
1 | g.180266445T>G | CA343595522 | LHX4 | c.302T>G (p.Val101Gly) c.239T>G c.119T>G (p.Val40Gly) c.77T>G (p.Val26Gly) | |
1 | g.180266446G>A | CA422047474 | LHX4 | c.303G>A (p.Val101=) c.240G>A c.120G>A (p.Val40=) c.78G>A (p.Val26=) | |
1 | g.180266446G>C | CA422047475 | LHX4 | c.303G>C (p.Val101=) c.240G>C c.120G>C (p.Val40=) c.78G>C (p.Val26=) | |
1 | g.180266446G>T | CA422047476 | LHX4 | c.303G>T (p.Val101=) c.240G>T c.120G>T (p.Val40=) c.78G>T (p.Val26=) | |
1 | g.180266447G>A | CA1271857 | LHX4 | c.304G>A (p.Val102Ile) c.241G>A c.121G>A (p.Val41Ile) c.79G>A (p.Val27Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.180266447G>C | CA343595523 | LHX4 | c.304G>C (p.Val102Leu) c.241G>C c.121G>C (p.Val41Leu) c.79G>C (p.Val27Leu) | |
1 | g.180266447G= | CA1210607154 | LHX4 | c.304G= (p.Val102=) c.241G= c.121G= (p.Val41=) c.79G= (p.Val27=) | |
1 | g.180266447G>T | CA343595524 | LHX4 | c.304G>T (p.Val102Phe) c.241G>T c.121G>T (p.Val41Phe) c.79G>T (p.Val27Phe) | gnomAD v4 |
1 | g.180266448T>A | CA343595525 | LHX4 | c.305T>A (p.Val102Asp) c.242T>A c.122T>A (p.Val41Asp) c.80T>A (p.Val27Asp) | |
1 | g.180266448T>C | CA343595527 | LHX4 | c.305T>C (p.Val102Ala) c.242T>C c.122T>C (p.Val41Ala) c.80T>C (p.Val27Ala) | |
1 | g.180266448T>G | CA343595529 | LHX4 | c.305T>G (p.Val102Gly) c.242T>G c.122T>G (p.Val41Gly) c.80T>G (p.Val27Gly) | |
1 | g.180266449C>A | CA422047480 | LHX4 | c.306C>A (p.Val102=) c.243C>A c.123C>A (p.Val41=) c.81C>A (p.Val27=) | gnomAD v4 |
1 | g.180266449C= | CA1210607156 | LHX4 | c.306C= (p.Val102=) c.243C= c.123C= (p.Val41=) c.81C= (p.Val27=) | |
1 | g.180266449C>G | CA422047478 | LHX4 | c.306C>G (p.Val102=) c.243C>G c.123C>G (p.Val41=) c.81C>G (p.Val27=) | dbSNP |
1 | g.180266449C>T | CA422047479 | LHX4 | c.306C>T (p.Val102=) c.243C>T c.123C>T (p.Val41=) c.81C>T (p.Val27=) | |
1 | g.180266450C>A | CA343595531 | LHX4 | c.307C>A (p.Arg103Ser) c.244C>A c.124C>A (p.Arg42Ser) c.82C>A (p.Arg28Ser) | |
1 | g.180266450C= | CA1210607158 | LHX4 | c.307C= (p.Arg103=) c.244C= c.124C= (p.Arg42=) c.82C= (p.Arg28=) | |
1 | g.180266450C>G | CA343595532 | LHX4 | c.307C>G (p.Arg103Gly) c.244C>G c.124C>G (p.Arg42Gly) c.82C>G (p.Arg28Gly) | |
1 | g.180266450C>T | CA1271858 | LHX4 | c.307C>T (p.Arg103Cys) c.244C>T c.124C>T (p.Arg42Cys) c.82C>T (p.Arg28Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.180266451G>A | CA33776172 | LHX4 | c.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 |
1 | g.180266451G>C | CA343595537 | LHX4 | c.308G>C (p.Arg103Pro) c.245G>C c.125G>C (p.Arg42Pro) c.83G>C (p.Arg28Pro) | |
1 | g.180266451G= | CA1210607160 | LHX4 | c.308G= (p.Arg103=) c.245G= c.125G= (p.Arg42=) c.83G= (p.Arg28=) | |
1 | g.180266451G>T | CA343595535 | LHX4 | c.308G>T (p.Arg103Leu) c.245G>T c.125G>T (p.Arg42Leu) c.83G>T (p.Arg28Leu) | |
1 | g.180266452C>A | CA422047486 | LHX4 | c.309C>A (p.Arg103=) c.246C>A c.126C>A (p.Arg42=) c.84C>A (p.Arg28=) | |
1 | g.180266452C>G | CA422047485 | LHX4 | c.309C>G (p.Arg103=) c.246C>G c.126C>G (p.Arg42=) c.84C>G (p.Arg28=) | |
1 | g.180266452C>T | CA422047483 | LHX4 | c.309C>T (p.Arg103=) c.246C>T c.126C>T (p.Arg42=) c.84C>T (p.Arg28=) | |
1 | g.180266453A= | CA1210607162 | LHX4 | c.310A= (p.Lys104=) c.247A= c.127A= (p.Lys43=) c.85A= (p.Lys29=) | |
1 | g.180266453A>C | CA343595538 | LHX4 | c.310A>C (p.Lys104Gln) c.247A>C c.127A>C (p.Lys43Gln) c.85A>C (p.Lys29Gln) | |
1 | g.180266453A>G | CA343595540 | LHX4 | c.310A>G (p.Lys104Glu) c.247A>G c.127A>G (p.Lys43Glu) c.85A>G (p.Lys29Glu) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.180266453A>T | CA343595541 | LHX4 | c.310A>T (p.Lys104Ter) c.247A>T c.127A>T (p.Lys43Ter) c.85A>T (p.Lys29Ter) | |
1 | g.180266454dup | CA2840619698 | LHX4 | c.311dup (p.Ala105GlyfsTer?) c.248dup c.128dup (p.Ala44GlyfsTer?) c.86dup (p.Ala30GlyfsTer?) | |
1 | g.180266454A>C | CA343595543 | LHX4 | c.311A>C (p.Lys104Thr) c.248A>C c.128A>C (p.Lys43Thr) c.86A>C (p.Lys29Thr) | |
1 | g.180266454A>G | CA343595544 | LHX4 | c.311A>G (p.Lys104Arg) c.248A>G c.128A>G (p.Lys43Arg) c.86A>G (p.Lys29Arg) | |
1 | g.180266454A>T | CA343595545 | LHX4 | c.311A>T (p.Lys104Met) c.248A>T c.128A>T (p.Lys43Met) c.86A>T (p.Lys29Met) | |
1 | g.180266455G>A | CA422047488 | LHX4 | c.312G>A (p.Lys104=) c.249G>A c.129G>A (p.Lys43=) c.87G>A (p.Lys29=) | |
1 | g.180266455G>C | CA343595547 | LHX4 | c.312G>C (p.Lys104Asn) c.249G>C c.129G>C (p.Lys43Asn) c.87G>C (p.Lys29Asn) | |
1 | g.180266455G>T | CA343595548 | LHX4 | c.312G>T (p.Lys104Asn) c.249G>T c.129G>T (p.Lys43Asn) c.87G>T (p.Lys29Asn) | |
1 | g.180266456G>A | CA343595550 | LHX4 | c.313G>A (p.Ala105Thr) c.250G>A c.130G>A (p.Ala44Thr) c.88G>A (p.Ala30Thr) | |
1 | g.180266456G>C | CA343595552 | LHX4 | c.313G>C (p.Ala105Pro) c.250G>C c.130G>C (p.Ala44Pro) c.88G>C (p.Ala30Pro) | |
1 | g.180266456G>T | CA343595553 | LHX4 | c.313G>T (p.Ala105Ser) c.250G>T c.130G>T (p.Ala44Ser) c.88G>T (p.Ala30Ser) | |
1 | g.180266457C>A | CA343595557 | LHX4 | c.314C>A (p.Ala105Asp) c.251C>A c.131C>A (p.Ala44Asp) c.89C>A (p.Ala30Asp) | |
1 | g.180266457C>G | CA343595558 | LHX4 | c.314C>G (p.Ala105Gly) c.251C>G c.131C>G (p.Ala44Gly) c.89C>G (p.Ala30Gly) | |
1 | g.180266457C>T | CA343595555 | LHX4 | c.314C>T (p.Ala105Val) c.251C>T c.131C>T (p.Ala44Val) c.89C>T (p.Ala30Val) | |
1 | g.180266458C>A | CA422047491 | LHX4 | c.315C>A (p.Ala105=) c.252C>A c.132C>A (p.Ala44=) c.90C>A (p.Ala30=) | |
1 | g.180266458C>G | CA422047492 | LHX4 | c.315C>G (p.Ala105=) c.252C>G c.132C>G (p.Ala44=) c.90C>G (p.Ala30=) | |
1 | g.180266458C>T | CA422047493 | LHX4 | c.315C>T (p.Ala105=) c.252C>T c.132C>T (p.Ala44=) c.90C>T (p.Ala30=) | |
1 | g.180266459C>A | CA343595560 | LHX4 | c.316C>A (p.Gln106Lys) c.253C>A c.133C>A (p.Gln45Lys) c.91C>A (p.Gln31Lys) | |
1 | g.180266459C>G | CA343595561 | LHX4 | c.316C>G (p.Gln106Glu) c.253C>G c.133C>G (p.Gln45Glu) c.91C>G (p.Gln31Glu) | |
1 | g.180266459C>T | CA343595562 | LHX4 | c.316C>T (p.Gln106Ter) c.253C>T c.133C>T (p.Gln45Ter) c.91C>T (p.Gln31Ter) | |
1 | g.180266460A= | CA1210607169 | LHX4 | c.317A= (p.Gln106=) c.254A= c.134A= (p.Gln45=) c.92A= (p.Gln31=) | |
1 | g.180266460A>C | CA343595564 | LHX4 | c.317A>C (p.Gln106Pro) c.254A>C c.134A>C (p.Gln45Pro) c.92A>C (p.Gln31Pro) | |
1 | g.180266460A>G | CA1271859 | LHX4 | c.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 |
1 | g.180266460A>T | CA343595566 | LHX4 | c.317A>T (p.Gln106Leu) c.254A>T c.134A>T (p.Gln45Leu) c.92A>T (p.Gln31Leu) | |
1 | g.180266461G>A | CA422047496 | LHX4 | c.318G>A (p.Gln106=) c.255G>A c.135G>A (p.Gln45=) c.93G>A (p.Gln31=) | |
1 | g.180266461G>C | CA343595568 | LHX4 | c.318G>C (p.Gln106His) c.255G>C c.135G>C (p.Gln45His) c.93G>C (p.Gln31His) | |
1 | g.180266461G>T | CA343595569 | LHX4 | c.318G>T (p.Gln106His) c.255G>T c.135G>T (p.Gln45His) c.93G>T (p.Gln31His) | |
1 | g.180266462G>A | CA343595571 | LHX4 | c.319G>A (p.Asp107Asn) c.256G>A c.136G>A (p.Asp46Asn) c.94G>A (p.Asp32Asn) | gnomAD v4 |
1 | g.180266462G>C | CA343595573 | LHX4 | c.319G>C (p.Asp107His) c.256G>C c.136G>C (p.Asp46His) c.94G>C (p.Asp32His) | |
1 | g.180266462G>T | CA343595575 | LHX4 | c.319G>T (p.Asp107Tyr) c.256G>T c.136G>T (p.Asp46Tyr) c.94G>T (p.Asp32Tyr) | |
1 | g.180266463A>C | CA343595576 | LHX4 | c.320A>C (p.Asp107Ala) c.257A>C c.137A>C (p.Asp46Ala) c.95A>C (p.Asp32Ala) | |
1 | g.180266463A>G | CA343595578 | LHX4 | c.320A>G (p.Asp107Gly) c.257A>G c.137A>G (p.Asp46Gly) c.95A>G (p.Asp32Gly) | |
1 | g.180266463A>T | CA343595579 | LHX4 | c.320A>T (p.Asp107Val) c.257A>T c.137A>T (p.Asp46Val) c.95A>T (p.Asp32Val) | |
1 | g.180266464C>A | CA343595582 | LHX4 | c.321C>A (p.Asp107Glu) c.258C>A c.138C>A (p.Asp46Glu) c.96C>A (p.Asp32Glu) | |
1 | g.180266464C>G | CA343595581 | LHX4 | c.321C>G (p.Asp107Glu) c.258C>G c.138C>G (p.Asp46Glu) c.96C>G (p.Asp32Glu) | |
1 | g.180266464C>T | CA422047498 | LHX4 | c.321C>T (p.Asp107=) c.258C>T c.138C>T (p.Asp46=) c.96C>T (p.Asp32=) | |
1 | g.180266465T>A | CA343595584 | LHX4 | c.322T>A (p.Phe108Ile) c.259T>A c.139T>A (p.Phe47Ile) c.97T>A (p.Phe33Ile) | dbSNP |
1 | g.180266465T>C | CA343595587 | LHX4 | c.322T>C (p.Phe108Leu) c.259T>C c.139T>C (p.Phe47Leu) c.97T>C (p.Phe33Leu) | |
1 | g.180266465T>G | CA343595585 | LHX4 | c.322T>G (p.Phe108Val) c.259T>G c.139T>G (p.Phe47Val) c.97T>G (p.Phe33Val) | |
1 | g.180266465T= | CA1210607172 | LHX4 | c.322T= (p.Phe108=) c.259T= c.139T= (p.Phe47=) c.97T= (p.Phe33=) | |
1 | g.180266466T>A | CA343595589 | LHX4 | c.323T>A (p.Phe108Tyr) c.260T>A c.140T>A (p.Phe47Tyr) c.98T>A (p.Phe33Tyr) | |
1 | g.180266466T>C | CA343595591 | LHX4 | c.323T>C (p.Phe108Ser) c.260T>C c.140T>C (p.Phe47Ser) c.98T>C (p.Phe33Ser) | |
1 | g.180266466T>G | CA343595592 | LHX4 | c.323T>G (p.Phe108Cys) c.260T>G c.140T>G (p.Phe47Cys) c.98T>G (p.Phe33Cys) | |
1 | g.180266467T>A | CA343595593 | LHX4 | c.324T>A (p.Phe108Leu) c.261T>A c.141T>A (p.Phe47Leu) c.99T>A (p.Phe33Leu) | |
1 | g.180266467T>C | CA422047501 | LHX4 | c.324T>C (p.Phe108=) c.261T>C c.141T>C (p.Phe47=) c.99T>C (p.Phe33=) | dbSNP gnomAD v4 |
1 | g.180266467T>G | CA343595595 | LHX4 | c.324T>G (p.Phe108Leu) c.261T>G c.141T>G (p.Phe47Leu) c.99T>G (p.Phe33Leu) | |
1 | g.180266468G>A | CA343595599 | LHX4 | c.325G>A (p.Val109Ile) c.262G>A c.142G>A (p.Val48Ile) c.100G>A (p.Val34Ile) | gnomAD v4 |
1 | g.180266468G>C | CA343595598 | LHX4 | c.325G>C (p.Val109Leu) c.262G>C c.142G>C (p.Val48Leu) c.100G>C (p.Val34Leu) | |
1 | g.180266468G= | CA1210607174 | LHX4 | c.325G= (p.Val109=) c.262G= c.142G= (p.Val48=) c.100G= (p.Val34=) | |
1 | g.180266468G>T | CA33776197 | LHX4 | c.325G>T (p.Val109Phe) c.262G>T c.142G>T (p.Val48Phe) c.100G>T (p.Val34Phe) | dbSNP |
1 | g.180266469T>A | CA343595601 | LHX4 | c.326T>A (p.Val109Asp) c.263T>A c.143T>A (p.Val48Asp) c.101T>A (p.Val34Asp) | |
1 | g.180266469T>C | CA343595602 | LHX4 | c.326T>C (p.Val109Ala) c.263T>C c.143T>C (p.Val48Ala) c.101T>C (p.Val34Ala) | |
1 | g.180266469T>G | CA343595603 | LHX4 | c.326T>G (p.Val109Gly) c.263T>G c.143T>G (p.Val48Gly) c.101T>G (p.Val34Gly) | |
1 | g.180266470C>A | CA422047502 | LHX4 | c.327C>A (p.Val109=) c.264C>A c.144C>A (p.Val48=) c.102C>A (p.Val34=) | |
1 | g.180266470C>G | CA422047504 | LHX4 | c.327C>G (p.Val109=) c.264C>G c.144C>G (p.Val48=) c.102C>G (p.Val34=) | |
1 | g.180266470C>T | CA422047503 | LHX4 | c.327C>T (p.Val109=) c.264C>T c.144C>T (p.Val48=) c.102C>T (p.Val34=) | gnomAD v4 |
1 | g.180266471T>A | CA343595605 | LHX4 | c.328T>A (p.Tyr110Asn) c.265T>A c.145T>A (p.Tyr49Asn) c.103T>A (p.Tyr35Asn) | |
1 | g.180266471T>C | CA343595606 | LHX4 | c.328T>C (p.Tyr110His) c.265T>C c.145T>C (p.Tyr49His) c.103T>C (p.Tyr35His) | |
1 | g.180266471T>G | CA343595607 | LHX4 | c.328T>G (p.Tyr110Asp) c.265T>G c.145T>G (p.Tyr49Asp) c.103T>G (p.Tyr35Asp) | |
1 | g.180266472A= | CA1210604305 | LHX4 | c.329A= (p.Tyr110=) c.266A= c.146A= (p.Tyr49=) c.104A= (p.Tyr35=) | |
1 | g.180266472A>C | CA343595608 | LHX4 | c.329A>C (p.Tyr110Ser) c.266A>C c.146A>C (p.Tyr49Ser) c.104A>C (p.Tyr35Ser) | |
1 | g.180266472A>G | CA343595611 | LHX4 | c.329A>G (p.Tyr110Cys) c.266A>G c.146A>G (p.Tyr49Cys) c.104A>G (p.Tyr35Cys) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.180266472A>T | CA343595610 | LHX4 | c.329A>T (p.Tyr110Phe) c.266A>T c.146A>T (p.Tyr49Phe) c.104A>T (p.Tyr35Phe) | |
1 | g.180266473C>A | CA343595613 | LHX4 | c.330C>A (p.Tyr110Ter) c.267C>A c.147C>A (p.Tyr49Ter) c.105C>A (p.Tyr35Ter) | |
1 | g.180266473C>G | CA343595614 | LHX4 | c.330C>G (p.Tyr110Ter) c.267C>G c.147C>G (p.Tyr49Ter) c.105C>G (p.Tyr35Ter) | |
1 | g.180266473C>T | CA422047505 | LHX4 | c.330C>T (p.Tyr110=) c.267C>T c.147C>T (p.Tyr49=) c.105C>T (p.Tyr35=) | |
1 | g.180266474C>A | CA343595615 | LHX4 | c.331C>A (p.His111Asn) c.268C>A c.148C>A (p.His50Asn) c.106C>A (p.His36Asn) | |
1 | g.180266474C>G | CA343595617 | LHX4 | c.331C>G (p.His111Asp) c.268C>G c.148C>G (p.His50Asp) c.106C>G (p.His36Asp) | |
1 | g.180266474C>T | CA343595618 | LHX4 | c.331C>T (p.His111Tyr) c.268C>T c.148C>T (p.His50Tyr) c.106C>T (p.His36Tyr) | ClinVar |
1 | g.180266475A>C | CA343595620 | LHX4 | c.332A>C (p.His111Pro) c.269A>C c.149A>C (p.His50Pro) c.107A>C (p.His36Pro) | gnomAD v4 |
1 | g.180266475A>G | CA343595622 | LHX4 | c.332A>G (p.His111Arg) c.269A>G c.149A>G (p.His50Arg) c.107A>G (p.His36Arg) | |
1 | g.180266475A>T | CA343595623 | LHX4 | c.332A>T (p.His111Leu) c.269A>T c.149A>T (p.His50Leu) c.107A>T (p.His36Leu) | |
1 | g.180266476C>A | CA343595625 | LHX4 | c.333C>A (p.His111Gln) c.270C>A c.150C>A (p.His50Gln) c.108C>A (p.His36Gln) | |
1 | g.180266476C= | CA1210604313 | LHX4 | c.333C= (p.His111=) c.270C= c.150C= (p.His50=) c.108C= (p.His36=) | |
1 | g.180266476C>G | CA343595627 | LHX4 | c.333C>G (p.His111Gln) c.270C>G c.150C>G (p.His50Gln) c.108C>G (p.His36Gln) | |
1 | g.180266476C>T | CA1271860 | LHX4 | c.333C>T (p.His111=) c.270C>T c.150C>T (p.His50=) c.108C>T (p.His36=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.180266477C>A | CA343595629 | LHX4 | c.334C>A (p.Leu112Met) c.271C>A c.151C>A (p.Leu51Met) c.109C>A (p.Leu37Met) | |
1 | g.180266477C>G | CA343595630 | LHX4 | c.334C>G (p.Leu112Val) c.271C>G c.151C>G (p.Leu51Val) c.109C>G (p.Leu37Val) | |
1 | g.180266477C>T | CA422047510 | LHX4 | c.334C>T (p.Leu112=) c.271C>T c.151C>T (p.Leu51=) c.109C>T (p.Leu37=) | |
1 | g.180266478T>A | CA343595632 | LHX4 | c.335T>A (p.Leu112Gln) c.272T>A c.152T>A (p.Leu51Gln) c.110T>A (p.Leu37Gln) | |
1 | g.180266478T>C | CA343595634 | LHX4 | c.335T>C (p.Leu112Pro) c.272T>C c.152T>C (p.Leu51Pro) c.110T>C (p.Leu37Pro) | |
1 | g.180266478T>G | CA343595636 | LHX4 | c.335T>G (p.Leu112Arg) c.272T>G c.152T>G (p.Leu51Arg) c.110T>G (p.Leu37Arg) | |
1 | g.180266479G>A | CA422047514 | LHX4 | c.336G>A (p.Leu112=) c.273G>A c.153G>A (p.Leu51=) c.111G>A (p.Leu37=) | gnomAD v4 |
1 | g.180266479G>C | CA422047515 | LHX4 | c.336G>C (p.Leu112=) c.273G>C c.153G>C (p.Leu51=) c.111G>C (p.Leu37=) | |
1 | g.180266479G>T | CA422047516 | LHX4 | c.336G>T (p.Leu112=) c.273G>T c.153G>T (p.Leu51=) c.111G>T (p.Leu37=) | COSMIC |
1 | g.180266480C>A | CA343595637 | LHX4 | c.337C>A (p.His113Asn) c.274C>A c.154C>A (p.His52Asn) c.112C>A (p.His38Asn) | |
1 | g.180266480C= | CA1210604317 | LHX4 | c.337C= (p.His113=) c.274C= c.154C= (p.His52=) c.112C= (p.His38=) | |
1 | g.180266480C>G | CA343595639 | LHX4 | c.337C>G (p.His113Asp) c.274C>G c.154C>G (p.His52Asp) c.112C>G (p.His38Asp) | |
1 | g.180266480C>T | CA33776203 | LHX4 | c.337C>T (p.His113Tyr) c.274C>T c.154C>T (p.His52Tyr) c.112C>T (p.His38Tyr) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.180266481A= | CA1210604323 | LHX4 | c.338A= (p.His113=) c.275A= c.155A= (p.His52=) c.113A= (p.His38=) | |
1 | g.180266481A>C | CA343595644 | LHX4 | c.338A>C (p.His113Pro) c.275A>C c.155A>C (p.His52Pro) c.113A>C (p.His38Pro) | |
1 | g.180266481A>G | CA1271861 | LHX4 | c.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 |
1 | g.180266481A>T | CA343595642 | LHX4 | c.338A>T (p.His113Leu) c.275A>T c.155A>T (p.His52Leu) c.113A>T (p.His38Leu) | |
1 | g.180266482C>A | CA343595645 | LHX4 | c.339C>A (p.His113Gln) c.276C>A c.156C>A (p.His52Gln) c.114C>A (p.His38Gln) | gnomAD v4 |
1 | g.180266482C>G | CA343595646 | LHX4 | c.339C>G (p.His113Gln) c.276C>G c.156C>G (p.His52Gln) c.114C>G (p.His38Gln) | |
1 | g.180266482C>T | CA422047517 | LHX4 | c.339C>T (p.His113=) c.276C>T c.156C>T (p.His52=) c.114C>T (p.His38=) | gnomAD v4 |
1 | g.180266483T>A | CA343595648 | LHX4 | c.340T>A (p.Cys114Ser) c.277T>A c.157T>A (p.Cys53Ser) c.115T>A (p.Cys39Ser) | |
1 | g.180266483T>C | CA343595650 | LHX4 | c.340T>C (p.Cys114Arg) c.277T>C c.157T>C (p.Cys53Arg) c.115T>C (p.Cys39Arg) | |
1 | g.180266483T>G | CA343595651 | LHX4 | c.340T>G (p.Cys114Gly) c.277T>G c.157T>G (p.Cys53Gly) c.115T>G (p.Cys39Gly) | |
1 | g.180266484G>A | CA343595653 | LHX4 | c.341G>A (p.Cys114Tyr) c.278G>A c.158G>A (p.Cys53Tyr) c.116G>A (p.Cys39Tyr) | |
1 | g.180266484G>C | CA343595656 | LHX4 | c.341G>C (p.Cys114Ser) c.278G>C c.158G>C (p.Cys53Ser) c.116G>C (p.Cys39Ser) | |
1 | g.180266484G>T | CA343595654 | LHX4 | c.341G>T (p.Cys114Phe) c.278G>T c.158G>T (p.Cys53Phe) c.116G>T (p.Cys39Phe) | |
1 | g.180266485C>A | CA343595658 | LHX4 | c.342C>A (p.Cys114Ter) c.279C>A c.159C>A (p.Cys53Ter) c.117C>A (p.Cys39Ter) | COSMIC |
1 | g.180266485C= | CA1210604325 | LHX4 | c.342C= (p.Cys114=) c.279C= c.159C= (p.Cys53=) c.117C= (p.Cys39=) | |
1 | g.180266485C>G | CA343595660 | LHX4 | c.342C>G (p.Cys114Trp) c.279C>G c.159C>G (p.Cys53Trp) c.117C>G (p.Cys39Trp) | |
1 | g.180266485C>T | CA422047519 | LHX4 | c.342C>T (p.Cys114=) c.279C>T c.159C>T (p.Cys53=) c.117C>T (p.Cys39=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.180266486T>A | CA343595661 | LHX4 | c.343T>A (p.Phe115Ile) c.280T>A c.160T>A (p.Phe54Ile) c.118T>A (p.Phe40Ile) | |
1 | g.180266486T>C | CA343595663 | LHX4 | c.343T>C (p.Phe115Leu) c.280T>C c.160T>C (p.Phe54Leu) c.118T>C (p.Phe40Leu) | |
1 | g.180266486T>G | CA343595664 | LHX4 | c.343T>G (p.Phe115Val) c.280T>G c.160T>G (p.Phe54Val) c.118T>G (p.Phe40Val) | |
1 | g.180266487T>A | CA343595666 | LHX4 | c.344T>A (p.Phe115Tyr) c.281T>A c.161T>A (p.Phe54Tyr) c.119T>A (p.Phe40Tyr) | |
1 | g.180266487T>C | CA343595667 | LHX4 | c.344T>C (p.Phe115Ser) c.281T>C c.161T>C (p.Phe54Ser) c.119T>C (p.Phe40Ser) | |
1 | g.180266487T>G | CA343595669 | LHX4 | c.344T>G (p.Phe115Cys) c.281T>G c.161T>G (p.Phe54Cys) c.119T>G (p.Phe40Cys) | |
1 | g.180266488T>A | CA343595671 | LHX4 | c.345T>A (p.Phe115Leu) c.282T>A c.162T>A (p.Phe54Leu) c.120T>A (p.Phe40Leu) | |
1 | g.180266488T>C | CA1271862 | LHX4 | c.345T>C (p.Phe115=) c.282T>C c.162T>C (p.Phe54=) c.120T>C (p.Phe40=) | dbSNP ExAC |
1 | g.180266488T>G | CA343595673 | LHX4 | c.345T>G (p.Phe115Leu) c.282T>G c.162T>G (p.Phe54Leu) c.120T>G (p.Phe40Leu) | |
1 | g.180266488T= | CA1210604329 | LHX4 | c.345T= (p.Phe115=) c.282T= c.162T= (p.Phe54=) c.120T= (p.Phe40=) | |
1 | g.180266489G>A | CA343595674 | LHX4 | c.346G>A (p.Ala116Thr) c.283G>A c.163G>A (p.Ala55Thr) c.121G>A (p.Ala41Thr) | |
1 | g.180266489G>C | CA343595678 | LHX4 | c.346G>C (p.Ala116Pro) c.283G>C c.163G>C (p.Ala55Pro) c.121G>C (p.Ala41Pro) | |
1 | g.180266489G>T | CA343595676 | LHX4 | c.346G>T (p.Ala116Ser) c.283G>T c.163G>T (p.Ala55Ser) c.121G>T (p.Ala41Ser) | |
1 | g.180266490C>A | CA343595680 | LHX4 | c.347C>A (p.Ala116Asp) c.284C>A c.164C>A (p.Ala55Asp) c.122C>A (p.Ala41Asp) | |
1 | g.180266490C>G | CA343595682 | LHX4 | c.347C>G (p.Ala116Gly) c.284C>G c.164C>G (p.Ala55Gly) c.122C>G (p.Ala41Gly) | |
1 | g.180266490C>T | CA343595681 | LHX4 | c.347C>T (p.Ala116Val) c.284C>T c.164C>T (p.Ala55Val) c.122C>T (p.Ala41Val) | |
1 | g.180266491T>A | CA422047520 | LHX4 | c.348T>A (p.Ala116=) c.285T>A c.165T>A (p.Ala55=) c.123T>A (p.Ala41=) | |
1 | g.180266491T>C | CA422047521 | LHX4 | c.348T>C (p.Ala116=) c.285T>C c.165T>C (p.Ala55=) c.123T>C (p.Ala41=) | |
1 | g.180266491T>G | CA422047522 | LHX4 | c.348T>G (p.Ala116=) c.285T>G c.165T>G (p.Ala55=) c.123T>G (p.Ala41=) | |
1 | g.180266492T>A | CA343595685 | LHX4 | c.349T>A (p.Cys117Ser) c.286T>A c.166T>A (p.Cys56Ser) c.124T>A (p.Cys42Ser) | |
1 | g.180266492T>C | CA343595688 | LHX4 | c.349T>C (p.Cys117Arg) c.286T>C c.166T>C (p.Cys56Arg) c.124T>C (p.Cys42Arg) | |
1 | g.180266492T>G | CA343595686 | LHX4 | c.349T>G (p.Cys117Gly) c.286T>G c.166T>G (p.Cys56Gly) c.124T>G (p.Cys42Gly) | |
1 | g.180266493G>A | CA343595690 | LHX4 | c.350G>A (p.Cys117Tyr) c.287G>A c.167G>A (p.Cys56Tyr) c.125G>A (p.Cys42Tyr) | |
1 | g.180266493G>C | CA343595693 | LHX4 | c.350G>C (p.Cys117Ser) c.287G>C c.167G>C (p.Cys56Ser) c.125G>C (p.Cys42Ser) | gnomAD v4 |
1 | g.180266493G>T | CA343595691 | LHX4 | c.350G>T (p.Cys117Phe) c.287G>T c.167G>T (p.Cys56Phe) c.125G>T (p.Cys42Phe) | |
1 | g.180266494C>A | CA343595694 | LHX4 | c.351C>A (p.Cys117Ter) c.288C>A c.168C>A (p.Cys56Ter) c.126C>A (p.Cys42Ter) | |
1 | g.180266494C>G | CA343595696 | LHX4 | c.351C>G (p.Cys117Trp) c.288C>G c.168C>G (p.Cys56Trp) c.126C>G (p.Cys42Trp) | |
1 | g.180266494C>T | CA422047523 | LHX4 | c.351C>T (p.Cys117=) c.288C>T c.168C>T (p.Cys56=) c.126C>T (p.Cys42=) | gnomAD v4 |
1 | g.180266495A>C | CA343595697 | LHX4 | c.352A>C (p.Ile118Leu) c.289A>C c.169A>C (p.Ile57Leu) c.127A>C (p.Ile43Leu) | gnomAD v4 |
1 | g.180266495A>G | CA343595698 | LHX4 | c.352A>G (p.Ile118Val) c.289A>G c.169A>G (p.Ile57Val) c.127A>G (p.Ile43Val) | gnomAD v4 |
1 | g.180266495A>T | CA343595700 | LHX4 | c.352A>T (p.Ile118Phe) c.289A>T c.169A>T (p.Ile57Phe) c.127A>T (p.Ile43Phe) | |
1 | g.180266496T>A | CA343595701 | LHX4 | c.353T>A (p.Ile118Asn) c.290T>A c.170T>A (p.Ile57Asn) c.128T>A (p.Ile43Asn) | |
1 | g.180266496T>C | CA343595703 | LHX4 | c.353T>C (p.Ile118Thr) c.290T>C c.170T>C (p.Ile57Thr) c.128T>C (p.Ile43Thr) | |
1 | g.180266496T>G | CA343595705 | LHX4 | c.353T>G (p.Ile118Ser) c.290T>G c.170T>G (p.Ile57Ser) c.128T>G (p.Ile43Ser) | |
1 | g.180266497C>A | CA422047529 | LHX4 | c.354C>A (p.Ile118=) c.291C>A c.171C>A (p.Ile57=) c.129C>A (p.Ile43=) | |
1 | g.180266497C>G | CA343595706 | LHX4 | c.354C>G (p.Ile118Met) c.291C>G c.171C>G (p.Ile57Met) c.129C>G (p.Ile43Met) | |
1 | g.180266497C>T | CA422047530 | LHX4 | c.354C>T (p.Ile118=) c.291C>T c.171C>T (p.Ile57=) c.129C>T (p.Ile43=) | |
1 | g.180266498A>C | CA343595708 | LHX4 | c.355A>C (p.Ile119Leu) c.292A>C c.172A>C (p.Ile58Leu) c.130A>C (p.Ile44Leu) | |
1 | g.180266498A>G | CA343595710 | LHX4 | c.355A>G (p.Ile119Val) c.292A>G c.172A>G (p.Ile58Val) c.130A>G (p.Ile44Val) | |
1 | g.180266498A>T | CA343595711 | LHX4 | c.355A>T (p.Ile119Phe) c.292A>T c.172A>T (p.Ile58Phe) c.130A>T (p.Ile44Phe) | |
1 | g.180266499T>A | CA343595713 | LHX4 | c.356T>A (p.Ile119Asn) c.293T>A c.173T>A (p.Ile58Asn) c.131T>A (p.Ile44Asn) | |
1 | g.180266499T>C | CA343595716 | LHX4 | c.356T>C (p.Ile119Thr) c.293T>C c.173T>C (p.Ile58Thr) c.131T>C (p.Ile44Thr) | |
1 | g.180266499T>G | CA343595714 | LHX4 | c.356T>G (p.Ile119Ser) c.293T>G c.173T>G (p.Ile58Ser) c.131T>G (p.Ile44Ser) | |
1 | g.180266500C>A | CA422047531 | LHX4 | c.357C>A (p.Ile119=) c.294C>A c.174C>A (p.Ile58=) c.132C>A (p.Ile44=) | |
1 | g.180266500C= | CA1210604332 | LHX4 | c.357C= (p.Ile119=) c.294C= c.174C= (p.Ile58=) c.132C= (p.Ile44=) | |
1 | g.180266500C>G | CA343595717 | LHX4 | c.357C>G (p.Ile119Met) c.294C>G c.174C>G (p.Ile58Met) c.132C>G (p.Ile44Met) | |
1 | g.180266500C>T | CA422047532 | LHX4 | c.357C>T (p.Ile119=) c.294C>T c.174C>T (p.Ile58=) c.132C>T (p.Ile44=) | dbSNP gnomAD v4 |
1 | g.180266501T>A | CA343595719 | LHX4 | c.358T>A (p.Cys120Ser) c.295T>A c.175T>A (p.Cys59Ser) c.133T>A (p.Cys45Ser) | |
1 | g.180266501T>C | CA343595721 | LHX4 | c.358T>C (p.Cys120Arg) c.295T>C c.175T>C (p.Cys59Arg) c.133T>C (p.Cys45Arg) | |
1 | g.180266501T>G | CA343595722 | LHX4 | c.358T>G (p.Cys120Gly) c.295T>G c.175T>G (p.Cys59Gly) c.133T>G (p.Cys45Gly) | |
1 | g.180266502G>A | CA343595724 | LHX4 | c.359G>A (p.Cys120Tyr) c.296G>A c.176G>A (p.Cys59Tyr) c.134G>A (p.Cys45Tyr) | ClinVar dbSNP COSMIC |
1 | g.180266502G>C | CA343595726 | LHX4 | c.359G>C (p.Cys120Ser) c.296G>C c.176G>C (p.Cys59Ser) c.134G>C (p.Cys45Ser) | |
1 | g.180266502G= | CA1210604334 | LHX4 | c.359G= (p.Cys120=) c.296G= c.176G= (p.Cys59=) c.134G= (p.Cys45=) | |
1 | g.180266502G>T | CA343595727 | LHX4 | c.359G>T (p.Cys120Phe) c.296G>T c.176G>T (p.Cys59Phe) c.134G>T (p.Cys45Phe) | |
1 | g.180266503C>A | CA343595729 | LHX4 | c.360C>A (p.Cys120Ter) c.297C>A c.177C>A (p.Cys59Ter) c.135C>A (p.Cys45Ter) | |
1 | g.180266503C= | CA1210604338 | LHX4 | c.360C= (p.Cys120=) c.297C= c.177C= (p.Cys59=) c.135C= (p.Cys45=) | |
1 | g.180266503C>G | CA343595731 | LHX4 | c.360C>G (p.Cys120Trp) c.297C>G c.177C>G (p.Cys59Trp) c.135C>G (p.Cys45Trp) | |
1 | g.180266503C>T | CA422047533 | LHX4 | c.360C>T (p.Cys120=) c.297C>T c.177C>T (p.Cys59=) c.135C>T (p.Cys45=) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.180266504A>C | CA343595735 | LHX4 | c.361A>C (p.Asn121His) c.298A>C c.178A>C (p.Asn60His) c.136A>C (p.Asn46His) | |
1 | g.180266504A>G | CA343595734 | LHX4 | c.361A>G (p.Asn121Asp) c.298A>G c.178A>G (p.Asn60Asp) c.136A>G (p.Asn46Asp) | |
1 | g.180266504A>T | CA343595732 | LHX4 | c.361A>T (p.Asn121Tyr) c.298A>T c.178A>T (p.Asn60Tyr) c.136A>T (p.Asn46Tyr) | |
1 | g.180266505A>C | CA343595737 | LHX4 | c.362A>C (p.Asn121Thr) c.299A>C c.179A>C (p.Asn60Thr) c.137A>C (p.Asn46Thr) | |
1 | g.180266505A>G | CA343595739 | LHX4 | c.362A>G (p.Asn121Ser) c.299A>G c.179A>G (p.Asn60Ser) c.137A>G (p.Asn46Ser) | gnomAD v4 |
1 | g.180266505A>T | CA343595741 | LHX4 | c.362A>T (p.Asn121Ile) c.299A>T c.179A>T (p.Asn60Ile) c.137A>T (p.Asn46Ile) | |
1 | g.180266506C>A | CA343595743 | LHX4 | c.363C>A (p.Asn121Lys) c.300C>A c.180C>A (p.Asn60Lys) c.138C>A (p.Asn46Lys) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.180266506C= | CA1210604340 | LHX4 | c.363C= (p.Asn121=) c.300C= c.180C= (p.Asn60=) c.138C= (p.Asn46=) | |
1 | g.180266506C>G | CA343595744 | LHX4 | c.363C>G (p.Asn121Lys) c.300C>G c.180C>G (p.Asn60Lys) c.138C>G (p.Asn46Lys) | |
1 | g.180266506C>T | CA422047534 | LHX4 | c.363C>T (p.Asn121=) c.300C>T c.180C>T (p.Asn60=) c.138C>T (p.Asn46=) | gnomAD v4 |
1 | g.180266507C>A | CA422047535 | LHX4 | c.364C>A (p.Arg122=) c.301C>A c.181C>A (p.Arg61=) c.139C>A (p.Arg47=) | dbSNP gnomAD v4 |
1 | g.180266507C= | CA1143994966 | LHX4 | c.364C= (p.Arg122=) c.301C= c.181C= (p.Arg61=) c.139C= (p.Arg47=) | |
1 | g.180266507C>G | CA343595745 | LHX4 | c.364C>G (p.Arg122Gly) c.301C>G c.181C>G (p.Arg61Gly) c.139C>G (p.Arg47Gly) | |
1 | g.180266507C>T | CA1271863 | LHX4 | c.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 |
1 | g.180266508G>A | CA1271864 | LHX4 | c.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 |
1 | g.180266508G>C | CA343595748 | LHX4 | c.365G>C (p.Arg122Pro) c.302G>C c.182G>C (p.Arg61Pro) c.140G>C (p.Arg47Pro) | |
1 | g.180266508G= | CA1143628257 | LHX4 | c.365G= (p.Arg122=) c.302G= c.182G= (p.Arg61=) c.140G= (p.Arg47=) | |
1 | g.180266508G>T | CA343595750 | LHX4 | c.365G>T (p.Arg122Leu) c.302G>T c.182G>T (p.Arg61Leu) c.140G>T (p.Arg47Leu) | gnomAD v4 |
1 | g.180266509G>A | CA422047536 | LHX4 | c.366G>A (p.Arg122=) c.303G>A c.183G>A (p.Arg61=) c.141G>A (p.Arg47=) | gnomAD v4 |
1 | g.180266509G>C | CA422047537 | LHX4 | c.366G>C (p.Arg122=) c.303G>C c.183G>C (p.Arg61=) c.141G>C (p.Arg47=) | |
1 | g.180266509G>T | CA422047538 | LHX4 | c.366G>T (p.Arg122=) c.303G>T c.183G>T (p.Arg61=) c.141G>T (p.Arg47=) | |
1 | g.180266510C>A | CA343595752 | LHX4 | c.367C>A (p.Gln123Lys) c.304C>A c.184C>A (p.Gln62Lys) c.142C>A (p.Gln48Lys) | |
1 | g.180266510C>G | CA343595753 | LHX4 | c.367C>G (p.Gln123Glu) c.304C>G c.184C>G (p.Gln62Glu) c.142C>G (p.Gln48Glu) | |
1 | g.180266510C>T | CA343595755 | LHX4 | c.367C>T (p.Gln123Ter) c.304C>T c.184C>T (p.Gln62Ter) c.142C>T (p.Gln48Ter) | |
1 | g.180266511A>C | CA343595757 | LHX4 | c.368A>C (p.Gln123Pro) c.305A>C c.185A>C (p.Gln62Pro) c.143A>C (p.Gln48Pro) | |
1 | g.180266511A>G | CA343595759 | LHX4 | c.368A>G (p.Gln123Arg) c.305A>G c.185A>G (p.Gln62Arg) c.143A>G (p.Gln48Arg) | |
1 | g.180266511A>T | CA343595758 | LHX4 | c.368A>T (p.Gln123Leu) c.305A>T c.185A>T (p.Gln62Leu) c.143A>T (p.Gln48Leu) | |
1 | g.180266512G>A | CA422047539 | LHX4 | c.369G>A (p.Gln123=) c.306G>A c.186G>A (p.Gln62=) c.144G>A (p.Gln48=) | gnomAD v4 |
1 | g.180266512G>C | CA343595761 | LHX4 | c.369G>C (p.Gln123His) c.306G>C c.186G>C (p.Gln62His) c.144G>C (p.Gln48His) | |
1 | g.180266512G>T | CA343595762 | LHX4 | c.369G>T (p.Gln123His) c.306G>T c.186G>T (p.Gln62His) c.144G>T (p.Gln48His) | |
1 | g.180266513C>A | CA343595764 | LHX4 | c.370C>A (p.Leu124Met) c.307C>A c.187C>A (p.Leu63Met) c.145C>A (p.Leu49Met) | |
1 | g.180266513C>G | CA343595766 | LHX4 | c.370C>G (p.Leu124Val) c.307C>G c.187C>G (p.Leu63Val) c.145C>G (p.Leu49Val) | |
1 | g.180266513C>T | CA422047540 | LHX4 | c.370C>T (p.Leu124=) c.307C>T c.187C>T (p.Leu63=) c.145C>T (p.Leu49=) | |
1 | g.180266514T>A | CA343595768 | LHX4 | c.371T>A (p.Leu124Gln) c.308T>A c.188T>A (p.Leu63Gln) c.146T>A (p.Leu49Gln) | |
1 | g.180266514T>C | CA343595769 | LHX4 | c.371T>C (p.Leu124Pro) c.308T>C c.188T>C (p.Leu63Pro) c.146T>C (p.Leu49Pro) | |
1 | g.180266514T>G | CA343595770 | LHX4 | c.371T>G (p.Leu124Arg) c.308T>G c.188T>G (p.Leu63Arg) c.146T>G (p.Leu49Arg) | |
1 | g.180266515G>A | CA422047541 | LHX4 | c.372G>A (p.Leu124=) c.309G>A c.189G>A (p.Leu63=) c.147G>A (p.Leu49=) | |
1 | g.180266515G>C | CA422047542 | LHX4 | c.372G>C (p.Leu124=) c.309G>C c.189G>C (p.Leu63=) c.147G>C (p.Leu49=) | |
1 | g.180266515G>T | CA422047543 | LHX4 | c.372G>T (p.Leu124=) c.309G>T c.189G>T (p.Leu63=) c.147G>T (p.Leu49=) | |
1 | g.180266516G>A | CA343595773 | LHX4 | c.373G>A (p.Ala125Thr) c.310G>A c.190G>A (p.Ala64Thr) c.148G>A (p.Ala50Thr) | |
1 | g.180266516G>C | CA343595774 | LHX4 | c.373G>C (p.Ala125Pro) c.310G>C c.190G>C (p.Ala64Pro) c.148G>C (p.Ala50Pro) | gnomAD v4 |
1 | g.180266516G>T | CA343595776 | LHX4 | c.373G>T (p.Ala125Ser) c.310G>T c.190G>T (p.Ala64Ser) c.148G>T (p.Ala50Ser) | |
1 | g.180266517C>A | CA343595780 | LHX4 | c.374C>A (p.Ala125Asp) c.311C>A c.191C>A (p.Ala64Asp) c.149C>A (p.Ala50Asp) | |
1 | g.180266517C>G | CA343595779 | LHX4 | c.374C>G (p.Ala125Gly) c.311C>G c.191C>G (p.Ala64Gly) c.149C>G (p.Ala50Gly) | |
1 | g.180266517C>T | CA343595777 | LHX4 | c.374C>T (p.Ala125Val) c.311C>T c.191C>T (p.Ala64Val) c.149C>T (p.Ala50Val) | ClinVar |
1 | g.180266518C>A | CA422047544 | LHX4 | c.375C>A (p.Ala125=) c.312C>A c.192C>A (p.Ala64=) c.150C>A (p.Ala50=) | |
1 | g.180266518C= | CA1210604350 | LHX4 | c.375C= (p.Ala125=) c.312C= c.192C= (p.Ala64=) c.150C= (p.Ala50=) | |
1 | g.180266518C>G | CA422047545 | LHX4 | c.375C>G (p.Ala125=) c.312C>G c.192C>G (p.Ala64=) c.150C>G (p.Ala50=) | |
1 | g.180266518C>T | CA422047546 | LHX4 | c.375C>T (p.Ala125=) c.312C>T c.192C>T (p.Ala64=) c.150C>T (p.Ala50=) | dbSNP gnomAD v4 |
1 | g.180266519A>C | CA343595782 | LHX4 | c.376A>C (p.Thr126Pro) c.313A>C c.193A>C (p.Thr65Pro) c.151A>C (p.Thr51Pro) | |
1 | g.180266519A>G | CA343595785 | LHX4 | c.376A>G (p.Thr126Ala) c.313A>G c.193A>G (p.Thr65Ala) c.151A>G (p.Thr51Ala) | gnomAD v4 |
1 | g.180266519A>T | CA343595784 | LHX4 | c.376A>T (p.Thr126Ser) c.313A>T c.193A>T (p.Thr65Ser) c.151A>T (p.Thr51Ser) | |
1 | g.180266520C>A | CA343595787 | LHX4 | c.377C>A (p.Thr126Lys) c.314C>A c.194C>A (p.Thr65Lys) c.152C>A (p.Thr51Lys) | |
1 | g.180266520C= | CA1210604355 | LHX4 | c.377C= (p.Thr126=) c.314C= c.194C= (p.Thr65=) c.152C= (p.Thr51=) | |
1 | g.180266520C>G | CA343595789 | LHX4 | c.377C>G (p.Thr126Arg) c.314C>G c.194C>G (p.Thr65Arg) c.152C>G (p.Thr51Arg) | |
1 | g.180266520C>T | CA1271865 | LHX4 | c.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 |
1 | g.180266521G>A | CA1271866 | LHX4 | c.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 |
1 | g.180266521G>C | CA422047547 | LHX4 | c.378G>C (p.Thr126=) c.315G>C c.195G>C (p.Thr65=) c.153G>C (p.Thr51=) | |
1 | g.180266521G= | CA1210604362 | LHX4 | c.378G= (p.Thr126=) c.315G= c.195G= (p.Thr65=) c.153G= (p.Thr51=) | |
1 | g.180266521G>T | CA422047548 | LHX4 | c.378G>T (p.Thr126=) c.315G>T c.195G>T (p.Thr65=) c.153G>T (p.Thr51=) | |
1 | g.180266525del | CA2573131281 | LHX4 | c.382del (p.Asp128ThrfsTer?) c.319del c.199del (p.Asp67ThrfsTer?) c.157del (p.Asp53ThrfsTer?) | ClinVar dbSNP |
1 | g.180266522G>A | CA343595792 | LHX4 | c.379G>A (p.Gly127Arg) c.316G>A c.196G>A (p.Gly66Arg) c.154G>A (p.Gly52Arg) | |
1 | g.180266522G>C | CA343595794 | LHX4 | c.379G>C (p.Gly127Arg) c.316G>C c.196G>C (p.Gly66Arg) c.154G>C (p.Gly52Arg) | |
1 | g.180266522G>T | CA343595795 | LHX4 | c.379G>T (p.Gly127Trp) c.316G>T c.196G>T (p.Gly66Trp) c.154G>T (p.Gly52Trp) | |
1 | g.180266523G>A | CA343595797 | LHX4 | c.380G>A (p.Gly127Glu) c.317G>A c.197G>A (p.Gly66Glu) c.155G>A (p.Gly52Glu) | |
1 | g.180266523G>C | CA343595798 | LHX4 | c.380G>C (p.Gly127Ala) c.317G>C c.197G>C (p.Gly66Ala) c.155G>C (p.Gly52Ala) | |
1 | g.180266523G>T | CA343595800 | LHX4 | c.380G>T (p.Gly127Val) c.317G>T c.197G>T (p.Gly66Val) c.155G>T (p.Gly52Val) | |
1 | g.180266524G>A | CA422047549 | LHX4 | c.381G>A (p.Gly127=) c.318G>A c.198G>A (p.Gly66=) c.156G>A (p.Gly52=) | |
1 | g.180266524G>C | CA422047550 | LHX4 | c.381G>C (p.Gly127=) c.318G>C c.198G>C (p.Gly66=) c.156G>C (p.Gly52=) | |
1 | g.180266524G>T | CA422047551 | LHX4 | c.381G>T (p.Gly127=) c.318G>T c.198G>T (p.Gly66=) c.156G>T (p.Gly52=) | |
1 | g.180266525G>A | CA343595805 | LHX4 | c.382G>A (p.Asp128Asn) c.319G>A c.199G>A (p.Asp67Asn) c.157G>A (p.Asp53Asn) | gnomAD v4 |
1 | g.180266525G>C | CA343595803 | LHX4 | c.382G>C (p.Asp128His) c.319G>C c.199G>C (p.Asp67His) c.157G>C (p.Asp53His) | |
1 | g.180266525G= | CA1210604367 | LHX4 | c.382G= (p.Asp128=) c.319G= c.199G= (p.Asp67=) c.157G= (p.Asp53=) | |
1 | g.180266525G>T | CA343595802 | LHX4 | c.382G>T (p.Asp128Tyr) c.319G>T c.199G>T (p.Asp67Tyr) c.157G>T (p.Asp53Tyr) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.180266526A>C | CA343595807 | LHX4 | c.383A>C (p.Asp128Ala) c.320A>C c.200A>C (p.Asp67Ala) c.158A>C (p.Asp53Ala) | |
1 | g.180266526A>G | CA343595809 | LHX4 | c.383A>G (p.Asp128Gly) c.320A>G c.200A>G (p.Asp67Gly) c.158A>G (p.Asp53Gly) | |
1 | g.180266526A>T | CA343595810 | LHX4 | c.383A>T (p.Asp128Val) c.320A>T c.200A>T (p.Asp67Val) c.158A>T (p.Asp53Val) | |
1 | g.180266527C>A | CA343595813 | LHX4 | c.384C>A (p.Asp128Glu) c.321C>A c.201C>A (p.Asp67Glu) c.159C>A (p.Asp53Glu) | |
1 | g.180266527C= | CA1141786923 | LHX4 | c.384C= (p.Asp128=) c.321C= c.201C= (p.Asp67=) c.159C= (p.Asp53=) | |
1 | g.180266527C>G | CA1271868 | LHX4 | c.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 |
1 | g.180266527C>T | CA1271867 | LHX4 | c.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 |
1 | g.180266528G>A | CA1271869 | LHX4 | c.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 |
1 | g.180266528G>C | CA343595816 | LHX4 | c.385G>C (p.Glu129Gln) c.322G>C c.202G>C (p.Glu68Gln) c.160G>C (p.Glu54Gln) | |
1 | g.180266528G= | CA1142392208 | LHX4 | c.385G= (p.Glu129=) c.322G= c.202G= (p.Glu68=) c.160G= (p.Glu54=) | |
1 | g.180266528G>T | CA343595818 | LHX4 | c.385G>T (p.Glu129Ter) c.322G>T c.202G>T (p.Glu68Ter) c.160G>T (p.Glu54Ter) | |
1 | g.180266529A= | CA1210604384 | LHX4 | c.386A= (p.Glu129=) c.323A= c.203A= (p.Glu68=) c.161A= (p.Glu54=) | |
1 | g.180266529A>C | CA343595819 | LHX4 | c.386A>C (p.Glu129Ala) c.323A>C c.203A>C (p.Glu68Ala) c.161A>C (p.Glu54Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.180266529A>G | CA343595821 | LHX4 | c.386A>G (p.Glu129Gly) c.323A>G c.203A>G (p.Glu68Gly) c.161A>G (p.Glu54Gly) | |
1 | g.180266529A>T | CA343595823 | LHX4 | c.386A>T (p.Glu129Val) c.323A>T c.203A>T (p.Glu68Val) c.161A>T (p.Glu54Val) | |
1 | g.180266530A>C | CA343595826 | LHX4 | c.387A>C (p.Glu129Asp) c.324A>C c.204A>C (p.Glu68Asp) c.162A>C (p.Glu54Asp) | |
1 | g.180266530A>G | CA422047552 | LHX4 | c.387A>G (p.Glu129=) c.324A>G c.204A>G (p.Glu68=) c.162A>G (p.Glu54=) | gnomAD v4 |
1 | g.180266530A>T | CA343595824 | LHX4 | c.387A>T (p.Glu129Asp) c.324A>T c.204A>T (p.Glu68Asp) c.162A>T (p.Glu54Asp) | gnomAD v4 |
1 | g.180266531T>A | CA343595828 | LHX4 | c.388T>A (p.Phe130Ile) c.325T>A c.205T>A (p.Phe69Ile) c.163T>A (p.Phe55Ile) | |
1 | g.180266531T>C | CA343595830 | LHX4 | c.388T>C (p.Phe130Leu) c.325T>C c.205T>C (p.Phe69Leu) c.163T>C (p.Phe55Leu) | |
1 | g.180266531T>G | CA343595831 | LHX4 | c.388T>G (p.Phe130Val) c.325T>G c.205T>G (p.Phe69Val) c.163T>G (p.Phe55Val) | |
1 | g.180266532dup | CA2840619700 | LHX4 | c.389dup (p.Tyr131LeufsTer22) c.326dup c.206dup (p.Tyr70LeufsTer22) c.164dup (p.Tyr56LeufsTer22) | |
1 | g.180266532T>A | CA343595833 | LHX4 | c.389T>A (p.Phe130Tyr) c.326T>A c.206T>A (p.Phe69Tyr) c.164T>A (p.Phe55Tyr) | |
1 | g.180266532T>C | CA343595834 | LHX4 | c.389T>C (p.Phe130Ser) c.326T>C c.206T>C (p.Phe69Ser) c.164T>C (p.Phe55Ser) | |
1 | g.180266532T>G | CA343595836 | LHX4 | c.389T>G (p.Phe130Cys) c.326T>G c.206T>G (p.Phe69Cys) c.164T>G (p.Phe55Cys) | |
1 | g.180266533C>A | CA343595838 | LHX4 | c.390C>A (p.Phe130Leu) c.327C>A c.207C>A (p.Phe69Leu) c.165C>A (p.Phe55Leu) | |
1 | g.180266533C>G | CA343595839 | LHX4 | c.390C>G (p.Phe130Leu) c.327C>G c.207C>G (p.Phe69Leu) c.165C>G (p.Phe55Leu) | |
1 | g.180266533C>T | CA422047553 | LHX4 | c.390C>T (p.Phe130=) c.327C>T c.207C>T (p.Phe69=) c.165C>T (p.Phe55=) | |
1 | g.180266534T>A | CA343595840 | LHX4 | c.391T>A (p.Tyr131Asn) c.328T>A c.208T>A (p.Tyr70Asn) c.166T>A (p.Tyr56Asn) | |
1 | g.180266534T>C | CA343595842 | LHX4 | c.391T>C (p.Tyr131His) c.328T>C c.208T>C (p.Tyr70His) c.166T>C (p.Tyr56His) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.180266534T>G | CA343595843 | LHX4 | c.391T>G (p.Tyr131Asp) c.328T>G c.208T>G (p.Tyr70Asp) c.166T>G (p.Tyr56Asp) | |
1 | g.180266534T= | CA1210604388 | LHX4 | c.391T= (p.Tyr131=) c.328T= c.208T= (p.Tyr70=) c.166T= (p.Tyr56=) | |
1 | g.180266535A>C | CA343595845 | LHX4 | c.392A>C (p.Tyr131Ser) c.329A>C c.209A>C (p.Tyr70Ser) c.167A>C (p.Tyr56Ser) | |
1 | g.180266535A>G | CA343595847 | LHX4 | c.392A>G (p.Tyr131Cys) c.329A>G c.209A>G (p.Tyr70Cys) c.167A>G (p.Tyr56Cys) | |
1 | g.180266535A>T | CA343595848 | LHX4 | c.392A>T (p.Tyr131Phe) c.329A>T c.209A>T (p.Tyr70Phe) c.167A>T (p.Tyr56Phe) | |
1 | g.180266536C>A | CA343595850 | LHX4 | c.393C>A (p.Tyr131Ter) c.330C>A c.210C>A (p.Tyr70Ter) c.168C>A (p.Tyr56Ter) | |
1 | g.180266536C>G | CA343595851 | LHX4 | c.393C>G (p.Tyr131Ter) c.330C>G c.210C>G (p.Tyr70Ter) c.168C>G (p.Tyr56Ter) | |
1 | g.180266536C>T | CA422047554 | LHX4 | c.393C>T (p.Tyr131=) c.330C>T c.210C>T (p.Tyr70=) c.168C>T (p.Tyr56=) | |
1 | g.180266537C>A | CA343595853 | LHX4 | c.394C>A (p.Leu132Ile) c.331C>A c.211C>A (p.Leu71Ile) c.169C>A (p.Leu57Ile) | |
1 | g.180266537C= | CA1210604392 | LHX4 | c.394C= (p.Leu132=) c.331C= c.211C= (p.Leu71=) c.169C= (p.Leu57=) | |
1 | g.180266537C>G | CA343595854 | LHX4 | c.394C>G (p.Leu132Val) c.331C>G c.211C>G (p.Leu71Val) c.169C>G (p.Leu57Val) | gnomAD v4 |
1 | g.180266537C>T | CA1271870 | LHX4 | c.394C>T (p.Leu132Phe) c.331C>T c.211C>T (p.Leu71Phe) c.169C>T (p.Leu57Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |