| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.35805950T>A | CA363784671 | LHFPL5 | c.280T>A (p.Phe94Ile) c.112T>A (p.Phe38Ile) | |
| 6 | g.35805950T>C | CA363784673 | LHFPL5 | c.280T>C (p.Phe94Leu) c.112T>C (p.Phe38Leu) | |
| 6 | g.35805950T>G | CA363784675 | LHFPL5 | c.280T>G (p.Phe94Val) c.112T>G (p.Phe38Val) | |
| 6 | g.35805951T>A | CA363784677 | LHFPL5 | c.281T>A (p.Phe94Tyr) c.113T>A (p.Phe38Tyr) | |
| 6 | g.35805951T>C | CA363784679 | LHFPL5 | c.281T>C (p.Phe94Ser) c.113T>C (p.Phe38Ser) | |
| 6 | g.35805951T>G | CA363784681 | LHFPL5 | c.281T>G (p.Phe94Cys) c.113T>G (p.Phe38Cys) | |
| 6 | g.35805952C>A | CA363784684 | LHFPL5 | c.282C>A (p.Phe94Leu) c.114C>A (p.Phe38Leu) | gnomAD v4 |
| 6 | g.35805952C>G | CA363784686 | LHFPL5 | c.282C>G (p.Phe94Leu) c.114C>G (p.Phe38Leu) | COSMIC |
| 6 | g.35805952C>T | CA450125351 | LHFPL5 | c.282C>T (p.Phe94=) c.114C>T (p.Phe38=) | |
| 6 | g.35805953A= | CA1621062623 | LHFPL5 | c.283A= (p.Lys95=) c.115A= (p.Lys39=) | |
| 6 | g.35805953A>C | CA363784689 | LHFPL5 | c.283A>C (p.Lys95Gln) c.115A>C (p.Lys39Gln) | |
| 6 | g.35805953A>G | CA363784691 | LHFPL5 | c.283A>G (p.Lys95Glu) c.115A>G (p.Lys39Glu) | dbSNP gnomAD v4 |
| 6 | g.35805953A>T | CA363784693 | LHFPL5 | c.283A>T (p.Lys95Ter) c.115A>T (p.Lys39Ter) | |
| 6 | g.35805954A= | CA1621062624 | LHFPL5 | c.284A= (p.Lys95=) c.116A= (p.Lys39=) | |
| 6 | g.35805954A>C | CA363784700 | LHFPL5 | c.284A>C (p.Lys95Thr) c.116A>C (p.Lys39Thr) | |
| 6 | g.35805954A>G | CA363784698 | LHFPL5 | c.284A>G (p.Lys95Arg) c.116A>G (p.Lys39Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.35805954A>T | CA363784696 | LHFPL5 | c.284A>T (p.Lys95Met) c.116A>T (p.Lys39Met) | |
| 6 | g.35805955G>A | CA450125352 | LHFPL5 | c.285G>A (p.Lys95=) c.117G>A (p.Lys39=) | |
| 6 | g.35805955G>C | CA363784702 | LHFPL5 | c.285G>C (p.Lys95Asn) c.117G>C (p.Lys39Asn) | |
| 6 | g.35805955G>T | CA363784704 | LHFPL5 | c.285G>T (p.Lys95Asn) c.117G>T (p.Lys39Asn) | |
| 6 | g.35805956A= | CA1621062625 | LHFPL5 | c.286A= (p.Thr96=) c.118A= (p.Thr40=) | |
| 6 | g.35805956A>C | CA363784705 | LHFPL5 | c.286A>C (p.Thr96Pro) c.118A>C (p.Thr40Pro) | |
| 6 | g.35805956A>G | CA363784707 | LHFPL5 | c.286A>G (p.Thr96Ala) c.118A>G (p.Thr40Ala) | dbSNP |
| 6 | g.35805956A>T | CA363784709 | LHFPL5 | c.286A>T (p.Thr96Ser) c.118A>T (p.Thr40Ser) | |
| 6 | g.35805957C>A | CA363784711 | LHFPL5 | c.287C>A (p.Thr96Asn) c.119C>A (p.Thr40Asn) | |
| 6 | g.35805957C= | CA1621062626 | LHFPL5 | c.287C= (p.Thr96=) c.119C= (p.Thr40=) | |
| 6 | g.35805957C>G | CA363784713 | LHFPL5 | c.287C>G (p.Thr96Ser) c.119C>G (p.Thr40Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.35805957C>T | CA363784715 | LHFPL5 | c.287C>T (p.Thr96Ile) c.119C>T (p.Thr40Ile) | gnomAD v4 |
| 6 | g.35805958T>A | CA450125353 | LHFPL5 | c.288T>A (p.Thr96=) c.120T>A (p.Thr40=) | |
| 6 | g.35805958T>C | CA450125354 | LHFPL5 | c.288T>C (p.Thr96=) c.120T>C (p.Thr40=) | |
| 6 | g.35805958T>G | CA450125355 | LHFPL5 | c.288T>G (p.Thr96=) c.120T>G (p.Thr40=) | |
| 6 | g.35805959G>A | CA363784718 | LHFPL5 | c.289G>A (p.Ala97Thr) c.121G>A (p.Ala41Thr) | |
| 6 | g.35805959G>C | CA363784720 | LHFPL5 | c.289G>C (p.Ala97Pro) c.121G>C (p.Ala41Pro) | |
| 6 | g.35805959G= | CA1621062627 | LHFPL5 | c.289G= (p.Ala97=) c.121G= (p.Ala41=) | |
| 6 | g.35805959G>T | CA3774370 | LHFPL5 | c.289G>T (p.Ala97Ser) c.121G>T (p.Ala41Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.35805960C>A | CA3774371 | LHFPL5 | c.290C>A (p.Ala97Asp) c.122C>A (p.Ala41Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.35805960C= | CA1621062628 | LHFPL5 | c.290C= (p.Ala97=) c.122C= (p.Ala41=) | |
| 6 | g.35805960C>G | CA363784724 | LHFPL5 | c.290C>G (p.Ala97Gly) c.122C>G (p.Ala41Gly) | |
| 6 | g.35805960C>T | CA363784727 | LHFPL5 | c.290C>T (p.Ala97Val) c.122C>T (p.Ala41Val) | |
| 6 | g.35805961C>A | CA450125358 | LHFPL5 | c.291C>A (p.Ala97=) c.123C>A (p.Ala41=) | |
| 6 | g.35805961C>G | CA450125356 | LHFPL5 | c.291C>G (p.Ala97=) c.123C>G (p.Ala41=) | |
| 6 | g.35805961C>T | CA450125357 | LHFPL5 | c.291C>T (p.Ala97=) c.123C>T (p.Ala41=) | |
| 6 | g.35805962A>C | CA363784732 | LHFPL5 | c.292A>C (p.Met98Leu) c.124A>C (p.Met42Leu) | |
| 6 | g.35805962A>G | CA363784733 | LHFPL5 | c.292A>G (p.Met98Val) c.124A>G (p.Met42Val) | |
| 6 | g.35805962A>T | CA363784730 | LHFPL5 | c.292A>T (p.Met98Leu) c.124A>T (p.Met42Leu) | |
| 6 | g.35805963T>A | CA363784737 | LHFPL5 | c.293T>A (p.Met98Lys) c.125T>A (p.Met42Lys) | |
| 6 | g.35805963T>C | CA363784736 | LHFPL5 | c.293T>C (p.Met98Thr) c.125T>C (p.Met42Thr) | |
| 6 | g.35805963T>G | CA363784739 | LHFPL5 | c.293T>G (p.Met98Arg) c.125T>G (p.Met42Arg) | |
| 6 | g.35805964G>A | CA363784741 | LHFPL5 | c.294G>A (p.Met98Ile) c.126G>A (p.Met42Ile) | |
| 6 | g.35805964G>C | CA363784743 | LHFPL5 | c.294G>C (p.Met98Ile) c.126G>C (p.Met42Ile) | |
| 6 | g.35805964G>T | CA363784742 | LHFPL5 | c.294G>T (p.Met98Ile) c.126G>T (p.Met42Ile) | |
| 6 | g.35805965T>A | CA363784745 | LHFPL5 | c.295T>A (p.Phe99Ile) c.127T>A (p.Phe43Ile) | |
| 6 | g.35805965T>C | CA363784749 | LHFPL5 | c.295T>C (p.Phe99Leu) c.127T>C (p.Phe43Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.35805965T>G | CA363784747 | LHFPL5 | c.295T>G (p.Phe99Val) c.127T>G (p.Phe43Val) | |
| 6 | g.35805965T= | CA1621062629 | LHFPL5 | c.295T= (p.Phe99=) c.127T= (p.Phe43=) | |
| 6 | g.35805966T>A | CA363784752 | LHFPL5 | c.296T>A (p.Phe99Tyr) c.128T>A (p.Phe43Tyr) | |
| 6 | g.35805966T>C | CA363784753 | LHFPL5 | c.296T>C (p.Phe99Ser) c.128T>C (p.Phe43Ser) | dbSNP |
| 6 | g.35805966T>G | CA363784755 | LHFPL5 | c.296T>G (p.Phe99Cys) c.128T>G (p.Phe43Cys) | |
| 6 | g.35805966T= | CA1621062630 | LHFPL5 | c.296T= (p.Phe99=) c.128T= (p.Phe43=) | |
| 6 | g.35805967C>A | CA363784758 | LHFPL5 | c.297C>A (p.Phe99Leu) c.129C>A (p.Phe43Leu) | gnomAD v4 |
| 6 | g.35805967C>G | CA363784759 | LHFPL5 | c.297C>G (p.Phe99Leu) c.129C>G (p.Phe43Leu) | |
| 6 | g.35805967C>T | CA450125359 | LHFPL5 | c.297C>T (p.Phe99=) c.129C>T (p.Phe43=) | dbSNP gnomAD v4 COSMIC |
| 6 | g.35805968T>A | CA363784762 | LHFPL5 | c.298T>A (p.Phe100Ile) c.130T>A (p.Phe44Ile) | |
| 6 | g.35805968T>C | CA363784764 | LHFPL5 | c.298T>C (p.Phe100Leu) c.130T>C (p.Phe44Leu) | |
| 6 | g.35805968T>G | CA363784766 | LHFPL5 | c.298T>G (p.Phe100Val) c.130T>G (p.Phe44Val) | |
| 6 | g.35805969_35805970del | CA2678432740 | LHFPL5 | c.299_300del (p.Phe100CysfsTer28) c.131_132del (p.Phe44CysfsTer28) | gnomAD v4 |
| 6 | g.35805969T>A | CA363784768 | LHFPL5 | c.299T>A (p.Phe100Tyr) c.131T>A (p.Phe44Tyr) | |
| 6 | g.35805969T>C | CA363784770 | LHFPL5 | c.299T>C (p.Phe100Ser) c.131T>C (p.Phe44Ser) | |
| 6 | g.35805969T>G | CA363784773 | LHFPL5 | c.299T>G (p.Phe100Cys) c.131T>G (p.Phe44Cys) | |
| 6 | g.35805970T>A | CA363784775 | LHFPL5 | c.300T>A (p.Phe100Leu) c.132T>A (p.Phe44Leu) | |
| 6 | g.35805970T>C | CA450125360 | LHFPL5 | c.300T>C (p.Phe100=) c.132T>C (p.Phe44=) | gnomAD v4 |
| 6 | g.35805970T>G | CA363784777 | LHFPL5 | c.300T>G (p.Phe100Leu) c.132T>G (p.Phe44Leu) | |
| 6 | g.35805971G>A | CA363784779 | LHFPL5 | c.301G>A (p.Val101Met) c.133G>A (p.Val45Met) | |
| 6 | g.35805971G>C | CA363784782 | LHFPL5 | c.301G>C (p.Val101Leu) c.133G>C (p.Val45Leu) | |
| 6 | g.35805971G>T | CA363784780 | LHFPL5 | c.301G>T (p.Val101Leu) c.133G>T (p.Val45Leu) | |
| 6 | g.35805972T>A | CA363784783 | LHFPL5 | c.302T>A (p.Val101Glu) c.134T>A (p.Val45Glu) | |
| 6 | g.35805972T>C | CA363784784 | LHFPL5 | c.302T>C (p.Val101Ala) c.134T>C (p.Val45Ala) | |
| 6 | g.35805972T>G | CA363784787 | LHFPL5 | c.302T>G (p.Val101Gly) c.134T>G (p.Val45Gly) | |
| 6 | g.35805973G>A | CA450125361 | LHFPL5 | c.303G>A (p.Val101=) c.135G>A (p.Val45=) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.35805973G>C | CA450125362 | LHFPL5 | c.303G>C (p.Val101=) c.135G>C (p.Val45=) | |
| 6 | g.35805973G= | CA1621062631 | LHFPL5 | c.303G= (p.Val101=) c.135G= (p.Val45=) | |
| 6 | g.35805973G>T | CA450125363 | LHFPL5 | c.303G>T (p.Val101=) c.135G>T (p.Val45=) | |
| 6 | g.35805974G>A | CA363784789 | LHFPL5 | c.304G>A (p.Ala102Thr) c.136G>A (p.Ala46Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.35805974G>C | CA363784791 | LHFPL5 | c.304G>C (p.Ala102Pro) c.136G>C (p.Ala46Pro) | |
| 6 | g.35805974G= | CA1621062632 | LHFPL5 | c.304G= (p.Ala102=) c.136G= (p.Ala46=) | |
| 6 | g.35805974G>T | CA363784793 | LHFPL5 | c.304G>T (p.Ala102Ser) c.136G>T (p.Ala46Ser) | |
| 6 | g.35805975C>A | CA363784796 | LHFPL5 | c.305C>A (p.Ala102Asp) c.137C>A (p.Ala46Asp) | gnomAD v4 |
| 6 | g.35805975C>G | CA363784798 | LHFPL5 | c.305C>G (p.Ala102Gly) c.137C>G (p.Ala46Gly) | |
| 6 | g.35805975C>T | CA363784800 | LHFPL5 | c.305C>T (p.Ala102Val) c.137C>T (p.Ala46Val) | |
| 6 | g.35805976C>A | CA450125364 | LHFPL5 | c.306C>A (p.Ala102=) c.138C>A (p.Ala46=) | |
| 6 | g.35805976C= | CA1621062633 | LHFPL5 | c.306C= (p.Ala102=) c.138C= (p.Ala46=) | |
| 6 | g.35805976C>G | CA450125365 | LHFPL5 | c.306C>G (p.Ala102=) c.138C>G (p.Ala46=) | |
| 6 | g.35805976C>T | CA3774372 | LHFPL5 | c.306C>T (p.Ala102=) c.138C>T (p.Ala46=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.35805977T>A | CA363784807 | LHFPL5 | c.307T>A (p.Leu103Met) c.139T>A (p.Leu47Met) | |
| 6 | g.35805977T>C | CA3774373 | LHFPL5 | c.307T>C (p.Leu103=) c.139T>C (p.Leu47=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.35805977T>G | CA363784804 | LHFPL5 | c.307T>G (p.Leu103Val) c.139T>G (p.Leu47Val) | |
| 6 | g.35805977T= | CA1621062634 | LHFPL5 | c.307T= (p.Leu103=) c.139T= (p.Leu47=) | |
| 6 | g.35805978T>A | CA363784813 | LHFPL5 | c.308T>A (p.Leu103Ter) c.140T>A (p.Leu47Ter) | |
| 6 | g.35805978T>C | CA363784808 | LHFPL5 | c.308T>C (p.Leu103Ser) c.140T>C (p.Leu47Ser) | |
| 6 | g.35805978T>G | CA363784810 | LHFPL5 | c.308T>G (p.Leu103Trp) c.140T>G (p.Leu47Trp) | |
| 6 | g.35805979G>A | CA450125367 | LHFPL5 | c.309G>A (p.Leu103=) c.141G>A (p.Leu47=) | dbSNP gnomAD v4 |
| 6 | g.35805979G>C | CA363784819 | LHFPL5 | c.309G>C (p.Leu103Phe) c.141G>C (p.Leu47Phe) | |
| 6 | g.35805979G= | CA1621062635 | LHFPL5 | c.309G= (p.Leu103=) c.141G= (p.Leu47=) | |
| 6 | g.35805979G>T | CA363784821 | LHFPL5 | c.309G>T (p.Leu103Phe) c.141G>T (p.Leu47Phe) | |
| 6 | g.35805980G>A | CA363784822 | LHFPL5 | c.310G>A (p.Gly104Ser) c.142G>A (p.Gly48Ser) | |
| 6 | g.35805980G>C | CA363784823 | LHFPL5 | c.310G>C (p.Gly104Arg) c.142G>C (p.Gly48Arg) | |
| 6 | g.35805980G>T | CA363784824 | LHFPL5 | c.310G>T (p.Gly104Cys) c.142G>T (p.Gly48Cys) | |
| 6 | g.35805981G>A | CA363784825 | LHFPL5 | c.311G>A (p.Gly104Asp) c.143G>A (p.Gly48Asp) | gnomAD v4 |
| 6 | g.35805981G>C | CA363784826 | LHFPL5 | c.311G>C (p.Gly104Ala) c.143G>C (p.Gly48Ala) | |
| 6 | g.35805981G>T | CA363784827 | LHFPL5 | c.311G>T (p.Gly104Val) c.143G>T (p.Gly48Val) | |
| 6 | g.35805982C>A | CA450125371 | LHFPL5 | c.312C>A (p.Gly104=) c.144C>A (p.Gly48=) | |
| 6 | g.35805982C>G | CA450125372 | LHFPL5 | c.312C>G (p.Gly104=) c.144C>G (p.Gly48=) | |
| 6 | g.35805982C>T | CA450125373 | LHFPL5 | c.312C>T (p.Gly104=) c.144C>T (p.Gly48=) | |
| 6 | g.35805983A= | CA1621062636 | LHFPL5 | c.313A= (p.Met105=) c.145A= (p.Met49=) | |
| 6 | g.35805983A>C | CA363784828 | LHFPL5 | c.313A>C (p.Met105Leu) c.145A>C (p.Met49Leu) | |
| 6 | g.35805983A>G | CA363784829 | LHFPL5 | c.313A>G (p.Met105Val) c.145A>G (p.Met49Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.35805983A>T | CA363784830 | LHFPL5 | c.313A>T (p.Met105Leu) c.145A>T (p.Met49Leu) | gnomAD v4 |
| 6 | g.35805984T>A | CA363784832 | LHFPL5 | c.314T>A (p.Met105Lys) c.146T>A (p.Met49Lys) | |
| 6 | g.35805984T>C | CA3774374 | LHFPL5 | c.314T>C (p.Met105Thr) c.146T>C (p.Met49Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.35805984T>G | CA363784831 | LHFPL5 | c.314T>G (p.Met105Arg) c.146T>G (p.Met49Arg) | |
| 6 | g.35805984T= | CA1621062637 | LHFPL5 | c.314T= (p.Met105=) c.146T= (p.Met49=) | |
| 6 | g.35805985G>A | CA137307576 | LHFPL5 | c.315G>A (p.Met105Ile) c.147G>A (p.Met49Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.35805985G>C | CA363784833 | LHFPL5 | c.315G>C (p.Met105Ile) c.147G>C (p.Met49Ile) | |
| 6 | g.35805985G= | CA1621062638 | LHFPL5 | c.315G= (p.Met105=) c.147G= (p.Met49=) | |
| 6 | g.35805985G>T | CA363784834 | LHFPL5 | c.315G>T (p.Met105Ile) c.147G>T (p.Met49Ile) | |
| 6 | g.35805986T>A | CA363784835 | LHFPL5 | c.316T>A (p.Phe106Ile) c.148T>A (p.Phe50Ile) | |
| 6 | g.35805986T>C | CA363784836 | LHFPL5 | c.316T>C (p.Phe106Leu) c.148T>C (p.Phe50Leu) | |
| 6 | g.35805986T>G | CA363784837 | LHFPL5 | c.316T>G (p.Phe106Val) c.148T>G (p.Phe50Val) | |
| 6 | g.35805987T>A | CA363784838 | LHFPL5 | c.317T>A (p.Phe106Tyr) c.149T>A (p.Phe50Tyr) | |
| 6 | g.35805987T>C | CA363784839 | LHFPL5 | c.317T>C (p.Phe106Ser) c.149T>C (p.Phe50Ser) | |
| 6 | g.35805987T>G | CA363784841 | LHFPL5 | c.317T>G (p.Phe106Cys) c.149T>G (p.Phe50Cys) | |
| 6 | g.35805988C>A | CA363784844 | LHFPL5 | c.318C>A (p.Phe106Leu) c.150C>A (p.Phe50Leu) | |
| 6 | g.35805988C= | CA1621062639 | LHFPL5 | c.318C= (p.Phe106=) c.150C= (p.Phe50=) | |
| 6 | g.35805988C>G | CA363784846 | LHFPL5 | c.318C>G (p.Phe106Leu) c.150C>G (p.Phe50Leu) | |
| 6 | g.35805988C>T | CA3774375 | LHFPL5 | c.318C>T (p.Phe106=) c.150C>T (p.Phe50=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.35805989C>A | CA363784851 | LHFPL5 | c.319C>A (p.Leu107Ile) c.151C>A (p.Leu51Ile) | |
| 6 | g.35805989C>G | CA363784854 | LHFPL5 | c.319C>G (p.Leu107Val) c.151C>G (p.Leu51Val) | |
| 6 | g.35805989C>T | CA363784849 | LHFPL5 | c.319C>T (p.Leu107Phe) c.151C>T (p.Leu51Phe) | |
| 6 | g.35805990T>A | CA363784857 | LHFPL5 | c.320T>A (p.Leu107His) c.152T>A (p.Leu51His) | |
| 6 | g.35805990T>C | CA363784860 | LHFPL5 | c.320T>C (p.Leu107Pro) c.152T>C (p.Leu51Pro) | |
| 6 | g.35805990T>G | CA363784859 | LHFPL5 | c.320T>G (p.Leu107Arg) c.152T>G (p.Leu51Arg) | |
| 6 | g.35805991C>A | CA450125376 | LHFPL5 | c.321C>A (p.Leu107=) c.153C>A (p.Leu51=) | |
| 6 | g.35805991C= | CA1621062640 | LHFPL5 | c.321C= (p.Leu107=) c.153C= (p.Leu51=) | |
| 6 | g.35805991C>G | CA450125377 | LHFPL5 | c.321C>G (p.Leu107=) c.153C>G (p.Leu51=) | |
| 6 | g.35805991C>T | CA3774376 | LHFPL5 | c.321C>T (p.Leu107=) c.153C>T (p.Leu51=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.35805992A= | CA1621062641 | LHFPL5 | c.322A= (p.Ile108=) c.154A= (p.Ile52=) | |
| 6 | g.35805992A>C | CA363784864 | LHFPL5 | c.322A>C (p.Ile108Leu) c.154A>C (p.Ile52Leu) | gnomAD v4 |
| 6 | g.35805992A>G | CA363784866 | LHFPL5 | c.322A>G (p.Ile108Val) c.154A>G (p.Ile52Val) | dbSNP |
| 6 | g.35805992A>T | CA363784868 | LHFPL5 | c.322A>T (p.Ile108Phe) c.154A>T (p.Ile52Phe) | |
| 6 | g.35805993T>A | CA363784870 | LHFPL5 | c.323T>A (p.Ile108Asn) c.155T>A (p.Ile52Asn) | |
| 6 | g.35805993T>C | CA363784872 | LHFPL5 | c.323T>C (p.Ile108Thr) c.155T>C (p.Ile52Thr) | dbSNP |
| 6 | g.35805993T>G | CA363784874 | LHFPL5 | c.323T>G (p.Ile108Ser) c.155T>G (p.Ile52Ser) | |
| 6 | g.35805993T= | CA1621062642 | LHFPL5 | c.323T= (p.Ile108=) c.155T= (p.Ile52=) | |
| 6 | g.35805994C>A | CA450125379 | LHFPL5 | c.324C>A (p.Ile108=) c.156C>A (p.Ile52=) | |
| 6 | g.35805994C= | CA1621062643 | LHFPL5 | c.324C= (p.Ile108=) c.156C= (p.Ile52=) | |
| 6 | g.35805994C>G | CA363784876 | LHFPL5 | c.324C>G (p.Ile108Met) c.156C>G (p.Ile52Met) | dbSNP gnomAD v4 |
| 6 | g.35805994C>T | CA450125380 | LHFPL5 | c.324C>T (p.Ile108=) c.156C>T (p.Ile52=) | |
| 6 | g.35805995A>C | CA363784879 | LHFPL5 | c.325A>C (p.Ile109Leu) c.157A>C (p.Ile53Leu) | |
| 6 | g.35805995A>G | CA363784881 | LHFPL5 | c.325A>G (p.Ile109Val) c.157A>G (p.Ile53Val) | gnomAD v4 |
| 6 | g.35805995A>T | CA363784883 | LHFPL5 | c.325A>T (p.Ile109Phe) c.157A>T (p.Ile53Phe) | |
| 6 | g.35805996T>A | CA363784888 | LHFPL5 | c.326T>A (p.Ile109Asn) c.158T>A (p.Ile53Asn) | |
| 6 | g.35805996T>C | CA3774377 | LHFPL5 | c.326T>C (p.Ile109Thr) c.158T>C (p.Ile53Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.35805996T>G | CA363784886 | LHFPL5 | c.326T>G (p.Ile109Ser) c.158T>G (p.Ile53Ser) | |
| 6 | g.35805996T= | CA1621062644 | LHFPL5 | c.326T= (p.Ile109=) c.158T= (p.Ile53=) | |
| 6 | g.35805997T>A | CA450125384 | LHFPL5 | c.327T>A (p.Ile109=) c.159T>A (p.Ile53=) | |
| 6 | g.35805997T>C | CA450125385 | LHFPL5 | c.327T>C (p.Ile109=) c.159T>C (p.Ile53=) | |
| 6 | g.35805997T>G | CA3774378 | LHFPL5 | c.327T>G (p.Ile109Met) c.159T>G (p.Ile53Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.35805997T= | CA1621062645 | LHFPL5 | c.327T= (p.Ile109=) c.159T= (p.Ile53=) | |
| 6 | g.35805998G>A | CA363784892 | LHFPL5 | c.328G>A (p.Gly110Ser) c.160G>A (p.Gly54Ser) | |
| 6 | g.35805998G>C | CA363784894 | LHFPL5 | c.328G>C (p.Gly110Arg) c.160G>C (p.Gly54Arg) | |
| 6 | g.35805998G>T | CA363784895 | LHFPL5 | c.328G>T (p.Gly110Cys) c.160G>T (p.Gly54Cys) | |
| 6 | g.35805999G>A | CA363784898 | LHFPL5 | c.329G>A (p.Gly110Asp) c.161G>A (p.Gly54Asp) | dbSNP |
| 6 | g.35805999G>C | CA363784899 | LHFPL5 | c.329G>C (p.Gly110Ala) c.161G>C (p.Gly54Ala) | |
| 6 | g.35805999G= | CA1621062646 | LHFPL5 | c.329G= (p.Gly110=) c.161G= (p.Gly54=) | |
| 6 | g.35805999G>T | CA363784901 | LHFPL5 | c.329G>T (p.Gly110Val) c.161G>T (p.Gly54Val) | |
| 6 | g.35806000C>A | CA450125389 | LHFPL5 | c.330C>A (p.Gly110=) c.162C>A (p.Gly54=) | |
| 6 | g.35806000C>G | CA450125391 | LHFPL5 | c.330C>G (p.Gly110=) c.162C>G (p.Gly54=) | |
| 6 | g.35806000C>T | CA450125390 | LHFPL5 | c.330C>T (p.Gly110=) c.162C>T (p.Gly54=) | |
| 6 | g.35806001T>A | CA363784903 | LHFPL5 | c.331T>A (p.Ser111Thr) c.163T>A (p.Ser55Thr) | |
| 6 | g.35806001T>C | CA363784904 | LHFPL5 | c.331T>C (p.Ser111Pro) c.163T>C (p.Ser55Pro) | |
| 6 | g.35806001T>G | CA363784907 | LHFPL5 | c.331T>G (p.Ser111Ala) c.163T>G (p.Ser55Ala) | gnomAD v4 |
| 6 | g.35806002C>A | CA363784910 | LHFPL5 | c.332C>A (p.Ser111Tyr) c.164C>A (p.Ser55Tyr) | |
| 6 | g.35806002C= | CA1621062647 | LHFPL5 | c.332C= (p.Ser111=) c.164C= (p.Ser55=) | |
| 6 | g.35806002C>G | CA363784912 | LHFPL5 | c.332C>G (p.Ser111Cys) c.164C>G (p.Ser55Cys) | |
| 6 | g.35806002C>T | CA3774379 | LHFPL5 | c.332C>T (p.Ser111Phe) c.164C>T (p.Ser55Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.35806003C>A | CA450125392 | LHFPL5 | c.333C>A (p.Ser111=) c.165C>A (p.Ser55=) | |
| 6 | g.35806003C>G | CA450125393 | LHFPL5 | c.333C>G (p.Ser111=) c.165C>G (p.Ser55=) | |
| 6 | g.35806003C>T | CA450125394 | LHFPL5 | c.333C>T (p.Ser111=) c.165C>T (p.Ser55=) | |
| 6 | g.35806004A>C | CA363784915 | LHFPL5 | c.334A>C (p.Ile112Leu) c.166A>C (p.Ile56Leu) | |
| 6 | g.35806004A>G | CA363784917 | LHFPL5 | c.334A>G (p.Ile112Val) c.166A>G (p.Ile56Val) | |
| 6 | g.35806004A>T | CA363784919 | LHFPL5 | c.334A>T (p.Ile112Phe) c.166A>T (p.Ile56Phe) | |
| 6 | g.35806005T>A | CA363784921 | LHFPL5 | c.335T>A (p.Ile112Asn) c.167T>A (p.Ile56Asn) | |
| 6 | g.35806005T>C | CA3774380 | LHFPL5 | c.335T>C (p.Ile112Thr) c.167T>C (p.Ile56Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.35806005T>G | CA363784924 | LHFPL5 | c.335T>G (p.Ile112Ser) c.167T>G (p.Ile56Ser) | |
| 6 | g.35806005T= | CA1621062648 | LHFPL5 | c.335T= (p.Ile112=) c.167T= (p.Ile56=) | |
| 6 | g.35806006C>A | CA450125398 | LHFPL5 | c.336C>A (p.Ile112=) c.168C>A (p.Ile56=) | |
| 6 | g.35806006C>G | CA363784927 | LHFPL5 | c.336C>G (p.Ile112Met) c.168C>G (p.Ile56Met) | |
| 6 | g.35806006C>T | CA450125399 | LHFPL5 | c.336C>T (p.Ile112=) c.168C>T (p.Ile56=) | |
| 6 | g.35806007A= | CA1621062649 | LHFPL5 | c.337A= (p.Ile113=) c.169A= (p.Ile57=) | |
| 6 | g.35806007A>C | CA363784929 | LHFPL5 | c.337A>C (p.Ile113Leu) c.169A>C (p.Ile57Leu) | |
| 6 | g.35806007A>G | CA363784932 | LHFPL5 | c.337A>G (p.Ile113Val) c.169A>G (p.Ile57Val) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.35806007A>T | CA363784933 | LHFPL5 | c.337A>T (p.Ile113Phe) c.169A>T (p.Ile57Phe) | |
| 6 | g.35806008T>A | CA363784936 | LHFPL5 | c.338T>A (p.Ile113Asn) c.170T>A (p.Ile57Asn) | dbSNP |
| 6 | g.35806008T>C | CA363784938 | LHFPL5 | c.338T>C (p.Ile113Thr) c.170T>C (p.Ile57Thr) | ClinVar dbSNP |
| 6 | g.35806008T>G | CA363784940 | LHFPL5 | c.338T>G (p.Ile113Ser) c.170T>G (p.Ile57Ser) | |
| 6 | g.35806008T= | CA1621062650 | LHFPL5 | c.338T= (p.Ile113=) c.170T= (p.Ile57=) | |
| 6 | g.35806009C>A | CA450125401 | LHFPL5 | c.339C>A (p.Ile113=) c.171C>A (p.Ile57=) | |
| 6 | g.35806009C>G | CA363784943 | LHFPL5 | c.339C>G (p.Ile113Met) c.171C>G (p.Ile57Met) | gnomAD v4 |
| 6 | g.35806009C>T | CA450125400 | LHFPL5 | c.339C>T (p.Ile113=) c.171C>T (p.Ile57=) | |
| 6 | g.35806010T>A | CA363784945 | LHFPL5 | c.340T>A (p.Cys114Ser) c.172T>A (p.Cys58Ser) | |
| 6 | g.35806010T>C | CA363784947 | LHFPL5 | c.340T>C (p.Cys114Arg) c.172T>C (p.Cys58Arg) | |
| 6 | g.35806010T>G | CA363784949 | LHFPL5 | c.340T>G (p.Cys114Gly) c.172T>G (p.Cys58Gly) | |
| 6 | g.35806011G>A | CA363784952 | LHFPL5 | c.341G>A (p.Cys114Tyr) c.173G>A (p.Cys58Tyr) | |
| 6 | g.35806011G>C | CA363784954 | LHFPL5 | c.341G>C (p.Cys114Ser) c.173G>C (p.Cys58Ser) | gnomAD v4 |
| 6 | g.35806011G>T | CA363784956 | LHFPL5 | c.341G>T (p.Cys114Phe) c.173G>T (p.Cys58Phe) | |
| 6 | g.35806012C>A | CA363784959 | LHFPL5 | c.342C>A (p.Cys114Ter) c.174C>A (p.Cys58Ter) | |
| 6 | g.35806012C>G | CA363784960 | LHFPL5 | c.342C>G (p.Cys114Trp) c.174C>G (p.Cys58Trp) | |
| 6 | g.35806012C>T | CA450125402 | LHFPL5 | c.342C>T (p.Cys114=) c.174C>T (p.Cys58=) | gnomAD v4 |
| 6 | g.35806013T>A | CA363784962 | LHFPL5 | c.343T>A (p.Phe115Ile) c.175T>A (p.Phe59Ile) | |
| 6 | g.35806013T>C | CA363784963 | LHFPL5 | c.343T>C (p.Phe115Leu) c.175T>C (p.Phe59Leu) | |
| 6 | g.35806013T>G | CA363784965 | LHFPL5 | c.343T>G (p.Phe115Val) c.175T>G (p.Phe59Val) | |
| 6 | g.35806014T>A | CA363784968 | LHFPL5 | c.344T>A (p.Phe115Tyr) c.176T>A (p.Phe59Tyr) | |
| 6 | g.35806014T>C | CA363784970 | LHFPL5 | c.344T>C (p.Phe115Ser) c.176T>C (p.Phe59Ser) | |
| 6 | g.35806014T>G | CA363784972 | LHFPL5 | c.344T>G (p.Phe115Cys) c.176T>G (p.Phe59Cys) | |
| 6 | g.35806015C>A | CA363784975 | LHFPL5 | c.345C>A (p.Phe115Leu) c.177C>A (p.Phe59Leu) | |
| 6 | g.35806015C>G | CA363784974 | LHFPL5 | c.345C>G (p.Phe115Leu) c.177C>G (p.Phe59Leu) | |
| 6 | g.35806015C>T | CA450125404 | LHFPL5 | c.345C>T (p.Phe115=) c.177C>T (p.Phe59=) | |
| 6 | g.35806016A>C | CA363784976 | LHFPL5 | c.346A>C (p.Ser116Arg) c.178A>C (p.Ser60Arg) | |
| 6 | g.35806016A>G | CA363784979 | LHFPL5 | c.346A>G (p.Ser116Gly) c.178A>G (p.Ser60Gly) | |
| 6 | g.35806016A>T | CA363784978 | LHFPL5 | c.346A>T (p.Ser116Cys) c.178A>T (p.Ser60Cys) | |
| 6 | g.35806017G>A | CA363784983 | LHFPL5 | c.347G>A (p.Ser116Asn) c.179G>A (p.Ser60Asn) | |
| 6 | g.35806017G>C | CA363784984 | LHFPL5 | c.347G>C (p.Ser116Thr) c.179G>C (p.Ser60Thr) | |
| 6 | g.35806017G>T | CA363784985 | LHFPL5 | c.347G>T (p.Ser116Ile) c.179G>T (p.Ser60Ile) | |
| 6 | g.35806018C>A | CA363784986 | LHFPL5 | c.348C>A (p.Ser116Arg) c.180C>A (p.Ser60Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.35806018C= | CA1621062651 | LHFPL5 | c.348C= (p.Ser116=) c.180C= (p.Ser60=) | |
| 6 | g.35806018C>G | CA3774381 | LHFPL5 | c.348C>G (p.Ser116Arg) c.180C>G (p.Ser60Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.35806018C>T | CA137307587 | LHFPL5 | c.348C>T (p.Ser116=) c.180C>T (p.Ser60=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.35806019C>A | CA363784987 | LHFPL5 | c.349C>A (p.Leu117Met) c.181C>A (p.Leu61Met) | |
| 6 | g.35806019C>G | CA363784989 | LHFPL5 | c.349C>G (p.Leu117Val) c.181C>G (p.Leu61Val) | COSMIC |
| 6 | g.35806019C>T | CA450125408 | LHFPL5 | c.349C>T (p.Leu117=) c.181C>T (p.Leu61=) | |
| 6 | g.35806020T>A | CA363784992 | LHFPL5 | c.350T>A (p.Leu117Gln) c.182T>A (p.Leu61Gln) | |
| 6 | g.35806020T>C | CA363784993 | LHFPL5 | c.350T>C (p.Leu117Pro) c.182T>C (p.Leu61Pro) | |
| 6 | g.35806020T>G | CA363784995 | LHFPL5 | c.350T>G (p.Leu117Arg) c.182T>G (p.Leu61Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.35806020T= | CA1621062652 | LHFPL5 | c.350T= (p.Leu117=) c.182T= (p.Leu61=) | |
| 6 | g.35806021G>A | CA450125409 | LHFPL5 | c.351G>A (p.Leu117=) c.183G>A (p.Leu61=) | gnomAD v4 |
| 6 | g.35806021G>C | CA450125410 | LHFPL5 | c.351G>C (p.Leu117=) c.183G>C (p.Leu61=) | |
| 6 | g.35806021G>T | CA450125411 | LHFPL5 | c.351G>T (p.Leu117=) c.183G>T (p.Leu61=) | COSMIC |
| 6 | g.35806022T>A | CA363784998 | LHFPL5 | c.352T>A (p.Phe118Ile) c.184T>A (p.Phe62Ile) | |
| 6 | g.35806022T>C | CA137307589 | LHFPL5 | c.352T>C (p.Phe118Leu) c.184T>C (p.Phe62Leu) | dbSNP |
| 6 | g.35806022T>G | CA363785001 | LHFPL5 | c.352T>G (p.Phe118Val) c.184T>G (p.Phe62Val) | |
| 6 | g.35806022T= | CA1621062653 | LHFPL5 | c.352T= (p.Phe118=) c.184T= (p.Phe62=) | |
| 6 | g.35806025_35806027del | CA2578596209 | LHFPL5 | c.355_357del (p.Phe119del) c.187_189del (p.Phe63del) | gnomAD v4 |
| 6 | g.35806023T>A | CA363785007 | LHFPL5 | c.353T>A (p.Phe118Tyr) c.185T>A (p.Phe62Tyr) | |
| 6 | g.35806023T>C | CA363785006 | LHFPL5 | c.353T>C (p.Phe118Ser) c.185T>C (p.Phe62Ser) | |
| 6 | g.35806023T>G | CA363785004 | LHFPL5 | c.353T>G (p.Phe118Cys) c.185T>G (p.Phe62Cys) | |
| 6 | g.35806024C>A | CA363785009 | LHFPL5 | c.354C>A (p.Phe118Leu) c.186C>A (p.Phe62Leu) | |
| 6 | g.35806024C>G | CA363785010 | LHFPL5 | c.354C>G (p.Phe118Leu) c.186C>G (p.Phe62Leu) | gnomAD v4 |
| 6 | g.35806024C>T | CA450125414 | LHFPL5 | c.354C>T (p.Phe118=) c.186C>T (p.Phe62=) | |
| 6 | g.35806025T>A | CA363785013 | LHFPL5 | c.355T>A (p.Phe119Ile) c.187T>A (p.Phe63Ile) | |
| 6 | g.35806025T>C | CA363785014 | LHFPL5 | c.355T>C (p.Phe119Leu) c.187T>C (p.Phe63Leu) | |
| 6 | g.35806025T>G | CA363785016 | LHFPL5 | c.355T>G (p.Phe119Val) c.187T>G (p.Phe63Val) | |
| 6 | g.35806026T>A | CA363785018 | LHFPL5 | c.356T>A (p.Phe119Tyr) c.188T>A (p.Phe63Tyr) | |
| 6 | g.35806026T>C | CA363785020 | LHFPL5 | c.356T>C (p.Phe119Ser) c.188T>C (p.Phe63Ser) | ClinVar |
| 6 | g.35806026T>G | CA363785022 | LHFPL5 | c.356T>G (p.Phe119Cys) c.188T>G (p.Phe63Cys) | |
| 6 | g.35806027C>A | CA363785025 | LHFPL5 | c.357C>A (p.Phe119Leu) c.189C>A (p.Phe63Leu) | |
| 6 | g.35806027C>G | CA363785026 | LHFPL5 | c.357C>G (p.Phe119Leu) c.189C>G (p.Phe63Leu) | |
| 6 | g.35806027C>T | CA450125416 | LHFPL5 | c.357C>T (p.Phe119=) c.189C>T (p.Phe63=) | COSMIC |
| 6 | g.35806028A= | CA1621062654 | LHFPL5 | c.358A= (p.Ile120=) c.190A= (p.Ile64=) | |
| 6 | g.35806028A>C | CA363785028 | LHFPL5 | c.358A>C (p.Ile120Leu) c.190A>C (p.Ile64Leu) | |
| 6 | g.35806028A>G | CA363785030 | LHFPL5 | c.358A>G (p.Ile120Val) c.190A>G (p.Ile64Val) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.35806028A>T | CA363785031 | LHFPL5 | c.358A>T (p.Ile120Phe) c.190A>T (p.Ile64Phe) | |
| 6 | g.35806029T>A | CA363785037 | LHFPL5 | c.359T>A (p.Ile120Asn) c.191T>A (p.Ile64Asn) | |
| 6 | g.35806029T>C | CA363785039 | LHFPL5 | c.359T>C (p.Ile120Thr) c.191T>C (p.Ile64Thr) | |
| 6 | g.35806029T>G | CA363785035 | LHFPL5 | c.359T>G (p.Ile120Ser) c.191T>G (p.Ile64Ser) | |
| 6 | g.35806030C>A | CA450125418 | LHFPL5 | c.360C>A (p.Ile120=) c.192C>A (p.Ile64=) | |
| 6 | g.35806030C>G | CA363785041 | LHFPL5 | c.360C>G (p.Ile120Met) c.192C>G (p.Ile64Met) | |
| 6 | g.35806030C>T | CA450125420 | LHFPL5 | c.360C>T (p.Ile120=) c.192C>T (p.Ile64=) | |
| 6 | g.35806031T>A | CA363785044 | LHFPL5 | c.361T>A (p.Cys121Ser) c.193T>A (p.Cys65Ser) | COSMIC |
| 6 | g.35806031T>C | CA363785045 | LHFPL5 | c.361T>C (p.Cys121Arg) c.193T>C (p.Cys65Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.35806031T>G | CA363785048 | LHFPL5 | c.361T>G (p.Cys121Gly) c.193T>G (p.Cys65Gly) | |
| 6 | g.35806031T= | CA1621062655 | LHFPL5 | c.361T= (p.Cys121=) c.193T= (p.Cys65=) | |
| 6 | g.35806032G>A | CA363785050 | LHFPL5 | c.362G>A (p.Cys121Tyr) c.194G>A (p.Cys65Tyr) | |
| 6 | g.35806032G>C | CA363785051 | LHFPL5 | c.362G>C (p.Cys121Ser) c.194G>C (p.Cys65Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.35806032G= | CA1621062656 | LHFPL5 | c.362G= (p.Cys121=) c.194G= (p.Cys65=) | |
| 6 | g.35806032G>T | CA363785053 | LHFPL5 | c.362G>T (p.Cys121Phe) c.194G>T (p.Cys65Phe) | |
| 6 | g.35806033C>A | CA363785055 | LHFPL5 | c.363C>A (p.Cys121Ter) c.195C>A (p.Cys65Ter) | COSMIC |
| 6 | g.35806033C= | CA1621062657 | LHFPL5 | c.363C= (p.Cys121=) c.195C= (p.Cys65=) | |
| 6 | g.35806033C>G | CA363785057 | LHFPL5 | c.363C>G (p.Cys121Trp) c.195C>G (p.Cys65Trp) | |
| 6 | g.35806033C>T | CA137307592 | LHFPL5 | c.363C>T (p.Cys121=) c.195C>T (p.Cys65=) | dbSNP |
| 6 | g.35806034A= | CA1621062658 | LHFPL5 | c.364A= (p.Asn122=) c.196A= (p.Asn66=) | |
| 6 | g.35806034A>C | CA363785061 | LHFPL5 | c.364A>C (p.Asn122His) c.196A>C (p.Asn66His) | |
| 6 | g.35806034A>G | CA363785063 | LHFPL5 | c.364A>G (p.Asn122Asp) c.196A>G (p.Asn66Asp) | dbSNP |
| 6 | g.35806034A>T | CA363785064 | LHFPL5 | c.364A>T (p.Asn122Tyr) c.196A>T (p.Asn66Tyr) | |
| 6 | g.35806034_35806035insCCACCAAACCAAACACACCCAAC | CA2770639086 | LHFPL5 | c.364_365insCCACCAAACCAAACACACCCAAC (p.Asn122ThrfsTer28) c.364_365insCCACCAAACCAAACACACCCAAC (p.Asn122ThrfsTer?) c.196_197insCCACCAAACCAAACACACCCAAC (p.Asn66ThrfsTer28) | |
| 6 | g.35806035A= | CA1621062659 | LHFPL5 | c.365A= (p.Asn122=) c.197A= (p.Asn66=) | |
| 6 | g.35806035A>C | CA363785067 | LHFPL5 | c.365A>C (p.Asn122Thr) c.197A>C (p.Asn66Thr) | |
| 6 | g.35806035A>G | CA363785071 | LHFPL5 | c.365A>G (p.Asn122Ser) c.197A>G (p.Asn66Ser) | dbSNP |
| 6 | g.35806035A>T | CA363785069 | LHFPL5 | c.365A>T (p.Asn122Ile) c.197A>T (p.Asn66Ile) | |
| 6 | g.35806036C>A | CA363785074 | LHFPL5 | c.366C>A (p.Asn122Lys) c.198C>A (p.Asn66Lys) | |
| 6 | g.35806036C= | CA1621062660 | LHFPL5 | c.366C= (p.Asn122=) c.198C= (p.Asn66=) | |
| 6 | g.35806036C>G | CA363785075 | LHFPL5 | c.366C>G (p.Asn122Lys) c.198C>G (p.Asn66Lys) | |
| 6 | g.35806036C>T | CA3774382 | LHFPL5 | c.366C>T (p.Asn122=) c.198C>T (p.Asn66=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.35806036_35806037insCCAACA | CA2770639087 | LHFPL5 | c.366_367insCCAACA (p.Asn122_Thr123insProThr) c.198_199insCCAACA (p.Asn66_Thr67insProThr) | |
| 6 | g.35806037A>C | CA363785078 | LHFPL5 | c.367A>C (p.Thr123Pro) c.199A>C (p.Thr67Pro) | |
| 6 | g.35806037A>G | CA363785080 | LHFPL5 | c.367A>G (p.Thr123Ala) c.199A>G (p.Thr67Ala) | |
| 6 | g.35806037A>T | CA363785082 | LHFPL5 | c.367A>T (p.Thr123Ser) c.199A>T (p.Thr67Ser) | |
| 6 | g.35806038C>A | CA363785085 | LHFPL5 | c.368C>A (p.Thr123Lys) c.200C>A (p.Thr67Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.35806038C= | CA1621062661 | LHFPL5 | c.368C= (p.Thr123=) c.200C= (p.Thr67=) | |
| 6 | g.35806038C>G | CA363785087 | LHFPL5 | c.368C>G (p.Thr123Arg) c.200C>G (p.Thr67Arg) | |
| 6 | g.35806038C>T | CA3774383 | LHFPL5 | c.368C>T (p.Thr123Met) c.200C>T (p.Thr67Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.35806039G>A | CA3774384 | LHFPL5 | c.369G>A (p.Thr123=) c.201G>A (p.Thr67=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.35806039G>C | CA450125423 | LHFPL5 | c.369G>C (p.Thr123=) c.201G>C (p.Thr67=) | |
| 6 | g.35806039G= | CA1621062662 | LHFPL5 | c.369G= (p.Thr123=) c.201G= (p.Thr67=) | |
| 6 | g.35806039G>T | CA450125424 | LHFPL5 | c.369G>T (p.Thr123=) c.201G>T (p.Thr67=) | |
| 6 | g.35806039_35806040del | CA2770639088 | LHFPL5 | c.369_370del (p.Ala124HisfsTer4) c.201_202del (p.Ala68HisfsTer4) | |
| 6 | g.35806040G>A | CA363785097 | LHFPL5 | c.370G>A (p.Ala124Thr) c.202G>A (p.Ala68Thr) | COSMIC |
| 6 | g.35806040G>C | CA363785095 | LHFPL5 | c.370G>C (p.Ala124Pro) c.202G>C (p.Ala68Pro) | |
| 6 | g.35806040G>T | CA363785093 | LHFPL5 | c.370G>T (p.Ala124Ser) c.202G>T (p.Ala68Ser) | |
| 6 | g.35806041C>A | CA363785121 | LHFPL5 | c.371C>A (p.Ala124Asp) c.203C>A (p.Ala68Asp) | |
| 6 | g.35806041C>G | CA363785123 | LHFPL5 | c.371C>G (p.Ala124Gly) c.203C>G (p.Ala68Gly) | |
| 6 | g.35806041C>T | CA363785125 | LHFPL5 | c.371C>T (p.Ala124Val) c.203C>T (p.Ala68Val) | |
| 6 | g.35806041_35806042insAAACACACCCAA | CA2770639089 | LHFPL5 | c.371_372insAAACACACCCAA (p.Ala124_Thr125insAsnThrProAsn) c.203_204insAAACACACCCAA (p.Ala68_Thr69insAsnThrProAsn) | |
| 6 | g.35806042C>A | CA450125428 | LHFPL5 | c.372C>A (p.Ala124=) c.204C>A (p.Ala68=) | gnomAD v4 |
| 6 | g.35806042C= | CA1621062663 | LHFPL5 | c.372C= (p.Ala124=) c.204C= (p.Ala68=) | |
| 6 | g.35806042C>G | CA450125429 | LHFPL5 | c.372C>G (p.Ala124=) c.204C>G (p.Ala68=) | |
| 6 | g.35806042C>T | CA10626538 | LHFPL5 | c.372C>T (p.Ala124=) c.204C>T (p.Ala68=) | ClinVar dbSNP gnomAD v4 |
| 6 | g.35806043A>C | CA363785129 | LHFPL5 | c.373A>C (p.Thr125Pro) c.205A>C (p.Thr69Pro) | |
| 6 | g.35806043A>G | CA363785131 | LHFPL5 | c.373A>G (p.Thr125Ala) c.205A>G (p.Thr69Ala) | |
| 6 | g.35806043A>T | CA363785133 | LHFPL5 | c.373A>T (p.Thr125Ser) c.205A>T (p.Thr69Ser) | |
| 6 | g.35806044C>A | CA363785135 | LHFPL5 | c.374C>A (p.Thr125Lys) c.206C>A (p.Thr69Lys) | |
| 6 | g.35806044C>G | CA363785137 | LHFPL5 | c.374C>G (p.Thr125Arg) c.206C>G (p.Thr69Arg) | |
| 6 | g.35806044C>T | CA363785139 | LHFPL5 | c.374C>T (p.Thr125Ile) c.206C>T (p.Thr69Ile) | |
| 6 | g.35806045A= | CA1621062664 | LHFPL5 | c.375A= (p.Thr125=) c.207A= (p.Thr69=) | |
| 6 | g.35806045A>C | CA450125431 | LHFPL5 | c.375A>C (p.Thr125=) c.207A>C (p.Thr69=) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.35806045A>G | CA450125432 | LHFPL5 | c.375A>G (p.Thr125=) c.207A>G (p.Thr69=) | |
| 6 | g.35806045A>T | CA450125433 | LHFPL5 | c.375A>T (p.Thr125=) c.207A>T (p.Thr69=) | |
| 6 | g.35806046G>A | CA363785142 | LHFPL5 | c.376G>A (p.Val126Ile) c.208G>A (p.Val70Ile) | |
| 6 | g.35806046G>C | CA363785144 | LHFPL5 | c.376G>C (p.Val126Leu) c.208G>C (p.Val70Leu) | |
| 6 | g.35806046G>T | CA363785146 | LHFPL5 | c.376G>T (p.Val126Phe) c.208G>T (p.Val70Phe) | |
| 6 | g.35806047T>A | CA363785152 | LHFPL5 | c.377T>A (p.Val126Asp) c.209T>A (p.Val70Asp) | |
| 6 | g.35806047T>C | CA363785150 | LHFPL5 | c.377T>C (p.Val126Ala) c.209T>C (p.Val70Ala) | |
| 6 | g.35806047T>G | CA363785149 | LHFPL5 | c.377T>G (p.Val126Gly) c.209T>G (p.Val70Gly) | |
| 6 | g.35806048_35806058del | CA2678432741 | LHFPL5 | c.378_388del (p.Tyr127CysfsTer20) c.378_388del (p.Tyr127CysfsTer21) c.210_220del (p.Tyr71CysfsTer20) | gnomAD v4 |
| 6 | g.35806048C>A | CA450125439 | LHFPL5 | c.378C>A (p.Val126=) c.210C>A (p.Val70=) | |
| 6 | g.35806048C>G | CA450125440 | LHFPL5 | c.378C>G (p.Val126=) c.210C>G (p.Val70=) | |
| 6 | g.35806048C>T | CA450125441 | LHFPL5 | c.378C>T (p.Val126=) c.210C>T (p.Val70=) | gnomAD v4 |
| 6 | g.35806049T>A | CA363785154 | LHFPL5 | c.379T>A (p.Tyr127Asn) c.211T>A (p.Tyr71Asn) | gnomAD v4 |
| 6 | g.35806049T>C | CA363785155 | LHFPL5 | c.379T>C (p.Tyr127His) c.211T>C (p.Tyr71His) | gnomAD v4 |
| 6 | g.35806049T>G | CA363785156 | LHFPL5 | c.379T>G (p.Tyr127Asp) c.211T>G (p.Tyr71Asp) | |
| 6 | g.35806050A= | CA1621062665 | LHFPL5 | c.380A= (p.Tyr127=) c.212A= (p.Tyr71=) | |
| 6 | g.35806050A>C | CA363785157 | LHFPL5 | c.380A>C (p.Tyr127Ser) c.212A>C (p.Tyr71Ser) | |
| 6 | g.35806050A>G | CA251915 | LHFPL5 | c.380A>G (p.Tyr127Cys) c.212A>G (p.Tyr71Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.35806050A>T | CA363785159 | LHFPL5 | c.380A>T (p.Tyr127Phe) c.212A>T (p.Tyr71Phe) |