Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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) |