Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.35805836_35805885delinsACACCGCAGGCAGGCTACTTCGGCCTTTTCTCCTACTGCGTGGGTAACGT | CA1621062574 | LHFPL5 | c.166_215delinsACACCGCAGGCAGGCTACTTCGGCCTTTTCTCCTACTGCGTGGGTAACGT (p.Thr56=) | |
6 | g.35805837_35805885del | CA566703525 | LHFPL5 | c.167_215del (p.Thr56SerfsTer13) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.35805876T>A | CA363784492 | LHFPL5 | c.206T>A (p.Val69Glu) c.38T>A (p.Val13Glu) | |
6 | g.35805876T>C | CA10621985 | LHFPL5 | c.206T>C (p.Val69Ala) c.38T>C (p.Val13Ala) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.35805876T>G | CA363784493 | LHFPL5 | c.206T>G (p.Val69Gly) c.38T>G (p.Val13Gly) | |
6 | g.35805876T= | CA1621062592 | LHFPL5 | c.206T= (p.Val69=) c.38T= (p.Val13=) | |
6 | g.35805877G>A | CA450125616 | LHFPL5 | c.207G>A (p.Val69=) c.39G>A (p.Val13=) | |
6 | g.35805877G>C | CA450125617 | LHFPL5 | c.207G>C (p.Val69=) c.39G>C (p.Val13=) | |
6 | g.35805877G>T | CA450125618 | LHFPL5 | c.207G>T (p.Val69=) c.39G>T (p.Val13=) | dbSNP |
6 | g.35805878G>A | CA3774358 | LHFPL5 | c.208G>A (p.Gly70Ser) c.40G>A (p.Gly14Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.35805878G>C | CA363784495 | LHFPL5 | c.208G>C (p.Gly70Arg) c.40G>C (p.Gly14Arg) | |
6 | g.35805878G= | CA1621062593 | LHFPL5 | c.208G= (p.Gly70=) c.40G= (p.Gly14=) | |
6 | g.35805878G>T | CA363784494 | LHFPL5 | c.208G>T (p.Gly70Cys) c.40G>T (p.Gly14Cys) | gnomAD v4 |
6 | g.35805879G>A | CA363784496 | LHFPL5 | c.209G>A (p.Gly70Asp) c.41G>A (p.Gly14Asp) | dbSNP |
6 | g.35805879G>C | CA363784498 | LHFPL5 | c.209G>C (p.Gly70Ala) c.41G>C (p.Gly14Ala) | dbSNP |
6 | g.35805879G= | CA1621062594 | LHFPL5 | c.209G= (p.Gly70=) c.41G= (p.Gly14=) | |
6 | g.35805879G>T | CA363784497 | LHFPL5 | c.209G>T (p.Gly70Val) c.41G>T (p.Gly14Val) | |
6 | g.35805879_35805880del | CA2678432735 | LHFPL5 | c.209_210del (p.Gly70GlufsTer22) c.41_42del (p.Gly14GlufsTer22) | gnomAD v4 |
6 | g.35805880T>A | CA450125619 | LHFPL5 | c.210T>A (p.Gly70=) c.42T>A (p.Gly14=) | |
6 | g.35805880T>C | CA450125620 | LHFPL5 | c.210T>C (p.Gly70=) c.42T>C (p.Gly14=) | |
6 | g.35805880T>G | CA450125621 | LHFPL5 | c.210T>G (p.Gly70=) c.42T>G (p.Gly14=) | |
6 | g.35805881A>C | CA363784499 | LHFPL5 | c.211A>C (p.Asn71His) c.43A>C (p.Asn15His) | |
6 | g.35805881A>G | CA363784500 | LHFPL5 | c.211A>G (p.Asn71Asp) c.43A>G (p.Asn15Asp) | |
6 | g.35805881A>T | CA363784501 | LHFPL5 | c.211A>T (p.Asn71Tyr) c.43A>T (p.Asn15Tyr) | |
6 | g.35805881_35805882dup | CA2678432736 | LHFPL5 | c.211_212dup (p.Asn71LysfsTer15) c.43_44dup (p.Asn15LysfsTer15) | gnomAD v4 |
6 | g.35805882A= | CA1621062595 | LHFPL5 | c.212A= (p.Asn71=) c.44A= (p.Asn15=) | |
6 | g.35805882A>C | CA363784502 | LHFPL5 | c.212A>C (p.Asn71Thr) c.44A>C (p.Asn15Thr) | |
6 | g.35805882A>G | CA3774359 | LHFPL5 | c.212A>G (p.Asn71Ser) c.44A>G (p.Asn15Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.35805882A>T | CA363784503 | LHFPL5 | c.212A>T (p.Asn71Ile) c.44A>T (p.Asn15Ile) | |
6 | g.35805882_35805895del | CA2678432737 | LHFPL5 | c.212_225del (p.Asn71ArgfsTer17) c.44_57del (p.Asn15ArgfsTer17) | gnomAD v4 |
6 | g.35805883C>A | CA363784504 | LHFPL5 | c.213C>A (p.Asn71Lys) c.45C>A (p.Asn15Lys) | |
6 | g.35805883C= | CA1621062596 | LHFPL5 | c.213C= (p.Asn71=) c.45C= (p.Asn15=) | |
6 | g.35805883C>G | CA363784505 | LHFPL5 | c.213C>G (p.Asn71Lys) c.45C>G (p.Asn15Lys) | |
6 | g.35805883C>T | CA450125622 | LHFPL5 | c.213C>T (p.Asn71=) c.45C>T (p.Asn15=) | dbSNP gnomAD v4 COSMIC |
6 | g.35805884G>A | CA176570 | LHFPL5 | c.214G>A (p.Val72Met) c.46G>A (p.Val16Met) | ClinVar dbSNP gnomAD v4 |
6 | g.35805884G>C | CA363784506 | LHFPL5 | c.214G>C (p.Val72Leu) c.46G>C (p.Val16Leu) | |
6 | g.35805884G= | CA1621062597 | LHFPL5 | c.214G= (p.Val72=) c.46G= (p.Val16=) | |
6 | g.35805884G>T | CA363784507 | LHFPL5 | c.214G>T (p.Val72Leu) c.46G>T (p.Val16Leu) | |
6 | g.35805885T>A | CA363784510 | LHFPL5 | c.215T>A (p.Val72Glu) c.47T>A (p.Val16Glu) | |
6 | g.35805885T>C | CA363784508 | LHFPL5 | c.215T>C (p.Val72Ala) c.47T>C (p.Val16Ala) | |
6 | g.35805885T>G | CA363784509 | LHFPL5 | c.215T>G (p.Val72Gly) c.47T>G (p.Val16Gly) | |
6 | g.35805886G>A | CA450125623 | LHFPL5 | c.216G>A (p.Val72=) c.48G>A (p.Val16=) | |
6 | g.35805886G>C | CA450125624 | LHFPL5 | c.216G>C (p.Val72=) c.48G>C (p.Val16=) | |
6 | g.35805886G>T | CA450125625 | LHFPL5 | c.216G>T (p.Val72=) c.48G>T (p.Val16=) | |
6 | g.35805887C>A | CA363784511 | LHFPL5 | c.217C>A (p.Leu73Met) c.49C>A (p.Leu17Met) | COSMIC |
6 | g.35805887C>G | CA363784512 | LHFPL5 | c.217C>G (p.Leu73Val) c.49C>G (p.Leu17Val) | |
6 | g.35805887C>T | CA450125626 | LHFPL5 | c.217C>T (p.Leu73=) c.49C>T (p.Leu17=) | |
6 | g.35805888T>A | CA363784513 | LHFPL5 | c.218T>A (p.Leu73Gln) c.50T>A (p.Leu17Gln) | |
6 | g.35805888T>C | CA363784514 | LHFPL5 | c.218T>C (p.Leu73Pro) c.50T>C (p.Leu17Pro) | gnomAD v4 |
6 | g.35805888T>G | CA363784515 | LHFPL5 | c.218T>G (p.Leu73Arg) c.50T>G (p.Leu17Arg) |