Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.128254580T>A | CA457857399 | LEP | c.321T>A (p.Leu107=) c.318T>A (p.Leu106=) | gnomAD v4 |
7 | g.128254580T>C | CA457857400 | LEP | c.321T>C (p.Leu107=) c.318T>C (p.Leu106=) | |
7 | g.128254580T>G | CA4469696 | LEP | c.321T>G (p.Leu107=) c.318T>G (p.Leu106=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.128254580T= | CA1742271758 | LEP | c.321T= (p.Leu107=) c.318T= (p.Leu106=) | |
7 | g.128254581C>A | CA369443952 | LEP | c.322C>A (p.Leu108Ile) c.319C>A (p.Leu107Ile) | |
7 | g.128254581C>G | CA369443953 | LEP | c.322C>G (p.Leu108Val) c.319C>G (p.Leu107Val) | |
7 | g.128254581C>T | CA369443954 | LEP | c.322C>T (p.Leu108Phe) c.319C>T (p.Leu107Phe) | gnomAD v4 |
7 | g.128254582T>A | CA369443955 | LEP | c.323T>A (p.Leu108His) c.320T>A (p.Leu107His) | |
7 | g.128254582T>C | CA369443956 | LEP | c.323T>C (p.Leu108Pro) c.320T>C (p.Leu107Pro) | |
7 | g.128254582T>G | CA369443957 | LEP | c.323T>G (p.Leu108Arg) c.320T>G (p.Leu107Arg) | |
7 | g.128254583T>A | CA457857403 | LEP | c.324T>A (p.Leu108=) c.321T>A (p.Leu107=) | |
7 | g.128254583T>C | CA457857401 | LEP | c.324T>C (p.Leu108=) c.321T>C (p.Leu107=) | |
7 | g.128254583T>G | CA457857402 | LEP | c.324T>G (p.Leu108=) c.321T>G (p.Leu107=) | |
7 | g.128254584C>A | CA369443960 | LEP | c.325C>A (p.His109Asn) c.322C>A (p.His108Asn) | |
7 | g.128254584C>G | CA369443958 | LEP | c.325C>G (p.His109Asp) c.322C>G (p.His108Asp) | |
7 | g.128254584C>T | CA369443959 | LEP | c.325C>T (p.His109Tyr) c.322C>T (p.His108Tyr) | |
7 | g.128254585A>C | CA369443961 | LEP | c.326A>C (p.His109Pro) c.323A>C (p.His108Pro) | |
7 | g.128254585A>G | CA369443962 | LEP | c.326A>G (p.His109Arg) c.323A>G (p.His108Arg) | |
7 | g.128254585A>T | CA369443963 | LEP | c.326A>T (p.His109Leu) c.323A>T (p.His108Leu) | COSMIC |
7 | g.128254586C>A | CA369443964 | LEP | c.327C>A (p.His109Gln) c.324C>A (p.His108Gln) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
7 | g.128254586C= | CA1742271760 | LEP | c.327C= (p.His109=) c.324C= (p.His108=) | |
7 | g.128254586C>G | CA369443965 | LEP | c.327C>G (p.His109Gln) c.324C>G (p.His108Gln) | |
7 | g.128254586C>T | CA4469697 | LEP | c.327C>T (p.His109=) c.324C>T (p.His108=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.128254587G>A | CA4469698 | LEP | c.328G>A (p.Val110Met) c.325G>A (p.Val109Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.128254587G>C | CA369443966 | LEP | c.328G>C (p.Val110Leu) c.325G>C (p.Val109Leu) | dbSNP |
7 | g.128254587G= | CA1742271761 | LEP | c.328G= (p.Val110=) c.325G= (p.Val109=) | |
7 | g.128254587G>T | CA4469699 | LEP | c.328G>T (p.Val110Leu) c.325G>T (p.Val109Leu) | dbSNP ExAC gnomAD v2 COSMIC |
7 | g.128254588T>A | CA369443967 | LEP | c.329T>A (p.Val110Glu) c.326T>A (p.Val109Glu) | |
7 | g.128254588T>C | CA369443968 | LEP | c.329T>C (p.Val110Ala) c.326T>C (p.Val109Ala) | |
7 | g.128254588T>G | CA369443969 | LEP | c.329T>G (p.Val110Gly) c.326T>G (p.Val109Gly) | |
7 | g.128254589G>A | CA457857404 | LEP | c.330G>A (p.Val110=) c.327G>A (p.Val109=) | dbSNP |
7 | g.128254589G>C | CA457857406 | LEP | c.330G>C (p.Val110=) c.327G>C (p.Val109=) | |
7 | g.128254589G= | CA1742271762 | LEP | c.330G= (p.Val110=) c.327G= (p.Val109=) | |
7 | g.128254589G>T | CA457857405 | LEP | c.330G>T (p.Val110=) c.327G>T (p.Val109=) | gnomAD v4 |
7 | g.128254590C>A | CA369443971 | LEP | c.331C>A (p.Leu111Met) c.328C>A (p.Leu110Met) | |
7 | g.128254590C>G | CA369443970 | LEP | c.331C>G (p.Leu111Val) c.328C>G (p.Leu110Val) | |
7 | g.128254590C>T | CA457857407 | LEP | c.331C>T (p.Leu111=) c.328C>T (p.Leu110=) | gnomAD v4 |
7 | g.128254591T>A | CA369443972 | LEP | c.332T>A (p.Leu111Gln) c.329T>A (p.Leu110Gln) | |
7 | g.128254591T>C | CA369443974 | LEP | c.332T>C (p.Leu111Pro) c.329T>C (p.Leu110Pro) | |
7 | g.128254591T>G | CA369443973 | LEP | c.332T>G (p.Leu111Arg) c.329T>G (p.Leu110Arg) | |
7 | g.128254592G>A | CA457857408 | LEP | c.333G>A (p.Leu111=) c.330G>A (p.Leu110=) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.128254592G>C | CA457857409 | LEP | c.333G>C (p.Leu111=) c.330G>C (p.Leu110=) | |
7 | g.128254592G= | CA1742271763 | LEP | c.333G= (p.Leu111=) c.330G= (p.Leu110=) | |
7 | g.128254592G>T | CA457857410 | LEP | c.333G>T (p.Leu111=) c.330G>T (p.Leu110=) | ClinVar dbSNP COSMIC |
7 | g.128254593G>A | CA369443975 | LEP | c.334G>A (p.Ala112Thr) c.331G>A (p.Ala111Thr) | |
7 | g.128254593G>C | CA369443976 | LEP | c.334G>C (p.Ala112Pro) c.331G>C (p.Ala111Pro) | gnomAD v4 |
7 | g.128254593G>T | CA369443977 | LEP | c.334G>T (p.Ala112Ser) c.331G>T (p.Ala111Ser) | |
7 | g.128254594C>A | CA369443978 | LEP | c.335C>A (p.Ala112Asp) c.332C>A (p.Ala111Asp) | |
7 | g.128254594C= | CA1742271764 | LEP | c.335C= (p.Ala112=) c.332C= (p.Ala111=) | |
7 | g.128254594C>G | CA369443979 | LEP | c.335C>G (p.Ala112Gly) c.332C>G (p.Ala111Gly) | gnomAD v4 |
7 | g.128254594C>T | CA369443980 | LEP | c.335C>T (p.Ala112Val) c.332C>T (p.Ala111Val) | dbSNP gnomAD v2 |
7 | g.128254595C>A | CA457857411 | LEP | c.336C>A (p.Ala112=) c.333C>A (p.Ala111=) | |
7 | g.128254595C= | CA1742271765 | LEP | c.336C= (p.Ala112=) c.333C= (p.Ala111=) | |
7 | g.128254595C>G | CA457857412 | LEP | c.336C>G (p.Ala112=) c.333C>G (p.Ala111=) | dbSNP |
7 | g.128254595C>T | CA4469700 | LEP | c.336C>T (p.Ala112=) c.333C>T (p.Ala111=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.128254596T>A | CA369443981 | LEP | c.337T>A (p.Phe113Ile) c.334T>A (p.Phe112Ile) | |
7 | g.128254596T>C | CA369443982 | LEP | c.337T>C (p.Phe113Leu) c.334T>C (p.Phe112Leu) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.128254596T>G | CA369443983 | LEP | c.337T>G (p.Phe113Val) c.334T>G (p.Phe112Val) | |
7 | g.128254596T= | CA1742271767 | LEP | c.337T= (p.Phe113=) c.334T= (p.Phe112=) | |
7 | g.128254597T>A | CA369443986 | LEP | c.338T>A (p.Phe113Tyr) c.335T>A (p.Phe112Tyr) | |
7 | g.128254597T>C | CA369443985 | LEP | c.338T>C (p.Phe113Ser) c.335T>C (p.Phe112Ser) | |
7 | g.128254597T>G | CA369443984 | LEP | c.338T>G (p.Phe113Cys) c.335T>G (p.Phe112Cys) | |
7 | g.128254598C>A | CA369443987 | LEP | c.339C>A (p.Phe113Leu) c.336C>A (p.Phe112Leu) | |
7 | g.128254598C>G | CA369443988 | LEP | c.339C>G (p.Phe113Leu) c.336C>G (p.Phe112Leu) | |
7 | g.128254598C>T | CA457857413 | LEP | c.339C>T (p.Phe113=) c.336C>T (p.Phe112=) | |
7 | g.128254599T>A | CA369443989 | LEP | c.340T>A (p.Ser114Thr) c.337T>A (p.Ser113Thr) | |
7 | g.128254599T>C | CA369443990 | LEP | c.340T>C (p.Ser114Pro) c.337T>C (p.Ser113Pro) | |
7 | g.128254599T>G | CA369443991 | LEP | c.340T>G (p.Ser114Ala) c.337T>G (p.Ser113Ala) | |
7 | g.128254600C>A | CA369443992 | LEP | c.341C>A (p.Ser114Tyr) c.338C>A (p.Ser113Tyr) | |
7 | g.128254600C>G | CA369443993 | LEP | c.341C>G (p.Ser114Cys) c.338C>G (p.Ser113Cys) | |
7 | g.128254600C>T | CA369443994 | LEP | c.341C>T (p.Ser114Phe) c.338C>T (p.Ser113Phe) | |
7 | g.128254601T>A | CA457857414 | LEP | c.342T>A (p.Ser114=) c.339T>A (p.Ser113=) | |
7 | g.128254601T>C | CA4469701 | LEP | c.342T>C (p.Ser114=) c.339T>C (p.Ser113=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.128254601T>G | CA457857415 | LEP | c.342T>G (p.Ser114=) c.339T>G (p.Ser113=) | |
7 | g.128254601T= | CA1742271770 | LEP | c.342T= (p.Ser114=) c.339T= (p.Ser113=) | |
7 | g.128254602A= | CA1742271774 | LEP | c.343A= (p.Lys115=) c.340A= (p.Lys114=) | |
7 | g.128254602A>C | CA369443995 | LEP | c.343A>C (p.Lys115Gln) c.340A>C (p.Lys114Gln) | |
7 | g.128254602A>G | CA166745239 | LEP | c.343A>G (p.Lys115Glu) c.340A>G (p.Lys114Glu) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.128254602A>T | CA369443996 | LEP | c.343A>T (p.Lys115Ter) c.340A>T (p.Lys114Ter) | |
7 | g.128254603A>C | CA369443998 | LEP | c.344A>C (p.Lys115Thr) c.341A>C (p.Lys114Thr) | |
7 | g.128254603A>G | CA369443999 | LEP | c.344A>G (p.Lys115Arg) c.341A>G (p.Lys114Arg) | |
7 | g.128254603A>T | CA369443997 | LEP | c.344A>T (p.Lys115Met) c.341A>T (p.Lys114Met) | |
7 | g.128254604G>A | CA457857416 | LEP | c.345G>A (p.Lys115=) c.342G>A (p.Lys114=) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
7 | g.128254604G>C | CA369444000 | LEP | c.345G>C (p.Lys115Asn) c.342G>C (p.Lys114Asn) | |
7 | g.128254604G= | CA1742271793 | LEP | c.345G= (p.Lys115=) c.342G= (p.Lys114=) | |
7 | g.128254604G>T | CA369444001 | LEP | c.345G>T (p.Lys115Asn) c.342G>T (p.Lys114Asn) | |
7 | g.128254605A>C | CA369444002 | LEP | c.346A>C (p.Ser116Arg) c.343A>C (p.Ser115Arg) | |
7 | g.128254605A>G | CA369444003 | LEP | c.346A>G (p.Ser116Gly) c.343A>G (p.Ser115Gly) | |
7 | g.128254605A>T | CA369444004 | LEP | c.346A>T (p.Ser116Cys) c.343A>T (p.Ser115Cys) | |
7 | g.128254606G>A | CA369444007 | LEP | c.347G>A (p.Ser116Asn) c.344G>A (p.Ser115Asn) | |
7 | g.128254606G>C | CA369444006 | LEP | c.347G>C (p.Ser116Thr) c.344G>C (p.Ser115Thr) | |
7 | g.128254606G>T | CA369444005 | LEP | c.347G>T (p.Ser116Ile) c.344G>T (p.Ser115Ile) | |
7 | g.128254607C>A | CA369444008 | LEP | c.348C>A (p.Ser116Arg) c.345C>A (p.Ser115Arg) | |
7 | g.128254607C= | CA1742271804 | LEP | c.348C= (p.Ser116=) c.345C= (p.Ser115=) | |
7 | g.128254607C>G | CA369444009 | LEP | c.348C>G (p.Ser116Arg) c.345C>G (p.Ser115Arg) | dbSNP gnomAD v4 |
7 | g.128254607C>T | CA166745241 | LEP | c.348C>T (p.Ser116=) c.345C>T (p.Ser115=) | dbSNP gnomAD v4 |
7 | g.128254607_128254608del | CA2579010564 | LEP | c.348_349del (p.Ser116ArgfsTer?) c.345_346del (p.Ser115ArgfsTer?) | |
7 | g.128254608T>A | CA369444010 | LEP | c.349T>A (p.Cys117Ser) c.346T>A (p.Cys116Ser) | |
7 | g.128254608T>C | CA369444011 | LEP | c.349T>C (p.Cys117Arg) c.346T>C (p.Cys116Arg) | |
7 | g.128254608T>G | CA369444012 | LEP | c.349T>G (p.Cys117Gly) c.346T>G (p.Cys116Gly) | |
7 | g.128254609G>A | CA369444013 | LEP | c.350G>A (p.Cys117Tyr) c.347G>A (p.Cys116Tyr) | dbSNP |
7 | g.128254609G>C | CA166745243 | LEP | c.350G>C (p.Cys117Ser) c.347G>C (p.Cys116Ser) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.128254609G= | CA1742271813 | LEP | c.350G= (p.Cys117=) c.347G= (p.Cys116=) | |
7 | g.128254609G>T | CA369444014 | LEP | c.350G>T (p.Cys117Phe) c.347G>T (p.Cys116Phe) | ClinVar dbSNP |
7 | g.128254610C>A | CA369444015 | LEP | c.351C>A (p.Cys117Ter) c.348C>A (p.Cys116Ter) | |
7 | g.128254610C= | CA1742271847 | LEP | c.351C= (p.Cys117=) c.348C= (p.Cys116=) | |
7 | g.128254610C>G | CA369444016 | LEP | c.351C>G (p.Cys117Trp) c.348C>G (p.Cys116Trp) | |
7 | g.128254610C>T | CA457857420 | LEP | c.351C>T (p.Cys117=) c.348C>T (p.Cys116=) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.128254611C>A | CA369444017 | LEP | c.352C>A (p.His118Asn) c.349C>A (p.His117Asn) | |
7 | g.128254611C= | CA1742271851 | LEP | c.352C= (p.His118=) c.349C= (p.His117=) | |
7 | g.128254611C>G | CA369444018 | LEP | c.352C>G (p.His118Asp) c.349C>G (p.His117Asp) | |
7 | g.128254611C>T | CA369444019 | LEP | c.352C>T (p.His118Tyr) c.349C>T (p.His117Tyr) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.128254612A= | CA1742271853 | LEP | c.353A= (p.His118=) c.350A= (p.His117=) | |
7 | g.128254612A>C | CA369444020 | LEP | c.353A>C (p.His118Pro) c.350A>C (p.His117Pro) | |
7 | g.128254612A>G | CA369444021 | LEP | c.353A>G (p.His118Arg) c.350A>G (p.His117Arg) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.128254612A>T | CA369444022 | LEP | c.353A>T (p.His118Leu) c.350A>T (p.His117Leu) | gnomAD v4 |
7 | g.128254613C>A | CA369444023 | LEP | c.354C>A (p.His118Gln) c.351C>A (p.His117Gln) | |
7 | g.128254613C= | CA1742271855 | LEP | c.354C= (p.His118=) c.351C= (p.His117=) | |
7 | g.128254613C>G | CA369444024 | LEP | c.354C>G (p.His118Gln) c.351C>G (p.His117Gln) | |
7 | g.128254613C>T | CA4469702 | LEP | c.354C>T (p.His118=) c.351C>T (p.His117=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.128254614T>A | CA369444025 | LEP | c.355T>A (p.Leu119Met) c.352T>A (p.Leu118Met) | |
7 | g.128254614T>C | CA457857424 | LEP | c.355T>C (p.Leu119=) c.352T>C (p.Leu118=) | |
7 | g.128254614T>G | CA369444026 | LEP | c.355T>G (p.Leu119Val) c.352T>G (p.Leu118Val) | gnomAD v4 |
7 | g.128254615T>A | CA369444028 | LEP | c.356T>A (p.Leu119Ter) c.353T>A (p.Leu118Ter) | |
7 | g.128254615T>C | CA369444029 | LEP | c.356T>C (p.Leu119Ser) c.353T>C (p.Leu118Ser) | |
7 | g.128254615T>G | CA369444027 | LEP | c.356T>G (p.Leu119Trp) c.353T>G (p.Leu118Trp) | |
7 | g.128254616G>A | CA457857426 | LEP | c.357G>A (p.Leu119=) c.354G>A (p.Leu118=) | gnomAD v4 |
7 | g.128254616G>C | CA369444031 | LEP | c.357G>C (p.Leu119Phe) c.354G>C (p.Leu118Phe) | |
7 | g.128254616G>T | CA369444030 | LEP | c.357G>T (p.Leu119Phe) c.354G>T (p.Leu118Phe) | |
7 | g.128254617C>A | CA369444032 | LEP | c.358C>A (p.Pro120Thr) c.355C>A (p.Pro119Thr) | |
7 | g.128254617C>G | CA369444033 | LEP | c.358C>G (p.Pro120Ala) c.355C>G (p.Pro119Ala) | |
7 | g.128254617C>T | CA369444034 | LEP | c.358C>T (p.Pro120Ser) c.355C>T (p.Pro119Ser) | |
7 | g.128254618C>A | CA369444035 | LEP | c.359C>A (p.Pro120His) c.356C>A (p.Pro119His) | |
7 | g.128254618C>G | CA369444036 | LEP | c.359C>G (p.Pro120Arg) c.356C>G (p.Pro119Arg) | |
7 | g.128254618C>T | CA369444037 | LEP | c.359C>T (p.Pro120Leu) c.356C>T (p.Pro119Leu) | |
7 | g.128254619C>A | CA457857429 | LEP | c.360C>A (p.Pro120=) c.357C>A (p.Pro119=) | |
7 | g.128254619C= | CA1742271857 | LEP | c.360C= (p.Pro120=) c.357C= (p.Pro119=) | |
7 | g.128254619C>G | CA457857430 | LEP | c.360C>G (p.Pro120=) c.357C>G (p.Pro119=) | dbSNP gnomAD v4 |
7 | g.128254619C>T | CA4469703 | LEP | c.360C>T (p.Pro120=) c.357C>T (p.Pro119=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.128254620T>A | CA369444038 | LEP | c.361T>A (p.Trp121Arg) c.358T>A (p.Trp120Arg) | |
7 | g.128254620T>C | CA369444039 | LEP | c.361T>C (p.Trp121Arg) c.358T>C (p.Trp120Arg) | |
7 | g.128254620T>G | CA369444040 | LEP | c.361T>G (p.Trp121Gly) c.358T>G (p.Trp120Gly) | |
7 | g.128254621G>A | CA369444041 | LEP | c.362G>A (p.Trp121Ter) c.359G>A (p.Trp120Ter) | |
7 | g.128254621G>C | CA369444042 | LEP | c.362G>C (p.Trp121Ser) c.359G>C (p.Trp120Ser) | |
7 | g.128254621G>T | CA369444043 | LEP | c.362G>T (p.Trp121Leu) c.359G>T (p.Trp120Leu) | |
7 | g.128254622G>A | CA369444046 | LEP | c.363G>A (p.Trp121Ter) c.360G>A (p.Trp120Ter) | gnomAD v4 |
7 | g.128254622G>C | CA369444045 | LEP | c.363G>C (p.Trp121Cys) c.360G>C (p.Trp120Cys) | |
7 | g.128254622G>T | CA369444044 | LEP | c.363G>T (p.Trp121Cys) c.360G>T (p.Trp120Cys) | |
7 | g.128254623G>A | CA369444047 | LEP | c.364G>A (p.Ala122Thr) c.361G>A (p.Ala121Thr) | |
7 | g.128254623G>C | CA369444048 | LEP | c.364G>C (p.Ala122Pro) c.361G>C (p.Ala121Pro) | |
7 | g.128254623G>T | CA369444049 | LEP | c.364G>T (p.Ala122Ser) c.361G>T (p.Ala121Ser) | |
7 | g.128254624C>A | CA166745247 | LEP | c.365C>A (p.Ala122Asp) c.362C>A (p.Ala121Asp) | dbSNP |
7 | g.128254624C= | CA1742271860 | LEP | c.365C= (p.Ala122=) c.362C= (p.Ala121=) | |
7 | g.128254624C>G | CA369444050 | LEP | c.365C>G (p.Ala122Gly) c.362C>G (p.Ala121Gly) | |
7 | g.128254624C>T | CA369444051 | LEP | c.365C>T (p.Ala122Val) c.362C>T (p.Ala121Val) | COSMIC |
7 | g.128254625C>A | CA457857437 | LEP | c.366C>A (p.Ala122=) c.363C>A (p.Ala121=) | |
7 | g.128254625C= | CA1742271863 | LEP | c.366C= (p.Ala122=) c.363C= (p.Ala121=) | |
7 | g.128254625C>G | CA457857436 | LEP | c.366C>G (p.Ala122=) c.363C>G (p.Ala121=) | |
7 | g.128254625C>T | CA4469704 | LEP | c.366C>T (p.Ala122=) c.363C>T (p.Ala121=) | dbSNP ExAC gnomAD v2 |
7 | g.128254626A= | CA1742271865 | LEP | c.367A= (p.Ser123=) c.364A= (p.Ser122=) | |
7 | g.128254626A>C | CA369444052 | LEP | c.367A>C (p.Ser123Arg) c.364A>C (p.Ser122Arg) | |
7 | g.128254626A>G | CA4469705 | LEP | c.367A>G (p.Ser123Gly) c.364A>G (p.Ser122Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.128254626A>T | CA369444053 | LEP | c.367A>T (p.Ser123Cys) c.364A>T (p.Ser122Cys) | |
7 | g.128254627G>A | CA369444054 | LEP | c.368G>A (p.Ser123Asn) c.365G>A (p.Ser122Asn) | |
7 | g.128254627G>C | CA166745251 | LEP | c.368G>C (p.Ser123Thr) c.365G>C (p.Ser122Thr) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.128254627G= | CA1742271868 | LEP | c.368G= (p.Ser123=) c.365G= (p.Ser122=) | |
7 | g.128254627G>T | CA369444055 | LEP | c.368G>T (p.Ser123Ile) c.365G>T (p.Ser122Ile) | |
7 | g.128254628T>A | CA369444056 | LEP | c.369T>A (p.Ser123Arg) c.366T>A (p.Ser122Arg) | |
7 | g.128254628T>C | CA457857439 | LEP | c.369T>C (p.Ser123=) c.366T>C (p.Ser122=) | |
7 | g.128254628T>G | CA369444057 | LEP | c.369T>G (p.Ser123Arg) c.366T>G (p.Ser122Arg) | |
7 | g.128254629G>A | CA369444058 | LEP | c.370G>A (p.Gly124Ser) c.367G>A (p.Gly123Ser) | COSMIC |
7 | g.128254629G>C | CA369444059 | LEP | c.370G>C (p.Gly124Arg) c.367G>C (p.Gly123Arg) | |
7 | g.128254629G>T | CA369444060 | LEP | c.370G>T (p.Gly124Cys) c.367G>T (p.Gly123Cys) | |
7 | g.128254630G>A | CA369444061 | LEP | c.371G>A (p.Gly124Asp) c.368G>A (p.Gly123Asp) | |
7 | g.128254630G>C | CA369444062 | LEP | c.371G>C (p.Gly124Ala) c.368G>C (p.Gly123Ala) | |
7 | g.128254630G>T | CA369444063 | LEP | c.371G>T (p.Gly124Val) c.368G>T (p.Gly123Val) | |
7 | g.128254631C>A | CA457857442 | LEP | c.372C>A (p.Gly124=) c.369C>A (p.Gly123=) | |
7 | g.128254631C= | CA1742271872 | LEP | c.372C= (p.Gly124=) c.369C= (p.Gly123=) | |
7 | g.128254631C>G | CA457857441 | LEP | c.372C>G (p.Gly124=) c.369C>G (p.Gly123=) | |
7 | g.128254631C>T | CA166745253 | LEP | c.372C>T (p.Gly124=) c.369C>T (p.Gly123=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.128254632C>A | CA369444064 | LEP | c.373C>A (p.Leu125Met) c.370C>A (p.Leu124Met) | |
7 | g.128254632C>G | CA369444065 | LEP | c.373C>G (p.Leu125Val) c.370C>G (p.Leu124Val) | |
7 | g.128254632C>T | CA457857444 | LEP | c.373C>T (p.Leu125=) c.370C>T (p.Leu124=) | |
7 | g.128254633T>A | CA369444066 | LEP | c.374T>A (p.Leu125Gln) c.371T>A (p.Leu124Gln) | |
7 | g.128254633T>C | CA369444067 | LEP | c.374T>C (p.Leu125Pro) c.371T>C (p.Leu124Pro) | |
7 | g.128254633T>G | CA369444068 | LEP | c.374T>G (p.Leu125Arg) c.371T>G (p.Leu124Arg) | gnomAD v4 |
7 | g.128254634G>A | CA4469706 | LEP | c.375G>A (p.Leu125=) c.372G>A (p.Leu124=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.128254634G>C | CA457857446 | LEP | c.375G>C (p.Leu125=) c.372G>C (p.Leu124=) | |
7 | g.128254634G= | CA1742271877 | LEP | c.375G= (p.Leu125=) c.372G= (p.Leu124=) | |
7 | g.128254634G>T | CA457857447 | LEP | c.375G>T (p.Leu125=) c.372G>T (p.Leu124=) | |
7 | g.128254635G>A | CA369444070 | LEP | c.376G>A (p.Glu126Lys) c.373G>A (p.Glu125Lys) | |
7 | g.128254635G>C | CA369444071 | LEP | c.376G>C (p.Glu126Gln) c.373G>C (p.Glu125Gln) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.128254635G= | CA1742271881 | LEP | c.376G= (p.Glu126=) c.373G= (p.Glu125=) | |
7 | g.128254635G>T | CA369444069 | LEP | c.376G>T (p.Glu126Ter) c.373G>T (p.Glu125Ter) | |
7 | g.128254636A>C | CA369444072 | LEP | c.377A>C (p.Glu126Ala) c.374A>C (p.Glu125Ala) | |
7 | g.128254636A>G | CA369444073 | LEP | c.377A>G (p.Glu126Gly) c.374A>G (p.Glu125Gly) | |
7 | g.128254636A>T | CA369444074 | LEP | c.377A>T (p.Glu126Val) c.374A>T (p.Glu125Val) | |
7 | g.128254637G>A | CA457857448 | LEP | c.378G>A (p.Glu126=) c.375G>A (p.Glu125=) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
7 | g.128254637G>C | CA369444075 | LEP | c.378G>C (p.Glu126Asp) c.375G>C (p.Glu125Asp) | |
7 | g.128254637G= | CA1742271888 | LEP | c.378G= (p.Glu126=) c.375G= (p.Glu125=) | |
7 | g.128254637G>T | CA369444076 | LEP | c.378G>T (p.Glu126Asp) c.375G>T (p.Glu125Asp) | |
7 | g.128254638A>C | CA369444079 | LEP | c.379A>C (p.Thr127Pro) c.376A>C (p.Thr126Pro) | |
7 | g.128254638A>G | CA369444077 | LEP | c.379A>G (p.Thr127Ala) c.376A>G (p.Thr126Ala) | |
7 | g.128254638A>T | CA369444078 | LEP | c.379A>T (p.Thr127Ser) c.376A>T (p.Thr126Ser) | |
7 | g.128254639C>A | CA369444080 | LEP | c.380C>A (p.Thr127Asn) c.377C>A (p.Thr126Asn) | dbSNP gnomAD v4 |
7 | g.128254639C= | CA1742271893 | LEP | c.380C= (p.Thr127=) c.377C= (p.Thr126=) | |
7 | g.128254639C>G | CA166745257 | LEP | c.380C>G (p.Thr127Ser) c.377C>G (p.Thr126Ser) | dbSNP |
7 | g.128254639C>T | CA4469707 | LEP | c.380C>T (p.Thr127Ile) c.377C>T (p.Thr126Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.128254640C>A | CA457857450 | LEP | c.381C>A (p.Thr127=) c.378C>A (p.Thr126=) | |
7 | g.128254640C>G | CA457857451 | LEP | c.381C>G (p.Thr127=) c.378C>G (p.Thr126=) | gnomAD v4 |
7 | g.128254640C>T | CA457857452 | LEP | c.381C>T (p.Thr127=) c.378C>T (p.Thr126=) | |
7 | g.128254641T>A | CA369444081 | LEP | c.382T>A (p.Leu128Met) c.379T>A (p.Leu127Met) | |
7 | g.128254641T>C | CA457857453 | LEP | c.382T>C (p.Leu128=) c.379T>C (p.Leu127=) | |
7 | g.128254641T>G | CA369444082 | LEP | c.382T>G (p.Leu128Val) c.379T>G (p.Leu127Val) | |
7 | g.128254642T>A | CA369444085 | LEP | c.383T>A (p.Leu128Ter) c.380T>A (p.Leu127Ter) | |
7 | g.128254642T>C | CA369444083 | LEP | c.383T>C (p.Leu128Ser) c.380T>C (p.Leu127Ser) | gnomAD v4 |
7 | g.128254642T>G | CA369444084 | LEP | c.383T>G (p.Leu128Trp) c.380T>G (p.Leu127Trp) | |
7 | g.128254643G>A | CA457857454 | LEP | c.384G>A (p.Leu128=) c.381G>A (p.Leu127=) | gnomAD v4 |
7 | g.128254643G>C | CA369444086 | LEP | c.384G>C (p.Leu128Phe) c.381G>C (p.Leu127Phe) | |
7 | g.128254643G>T | CA369444087 | LEP | c.384G>T (p.Leu128Phe) c.381G>T (p.Leu127Phe) | gnomAD v4 |
7 | g.128254644G>A | CA369444088 | LEP | c.385G>A (p.Asp129Asn) c.382G>A (p.Asp128Asn) | COSMIC |
7 | g.128254644G>C | CA369444089 | LEP | c.385G>C (p.Asp129His) c.382G>C (p.Asp128His) | |
7 | g.128254644G>T | CA369444090 | LEP | c.385G>T (p.Asp129Tyr) c.382G>T (p.Asp128Tyr) | |
7 | g.128254645A= | CA1742271898 | LEP | c.386A= (p.Asp129=) c.383A= (p.Asp128=) | |
7 | g.128254645A>C | CA369444091 | LEP | c.386A>C (p.Asp129Ala) c.383A>C (p.Asp128Ala) | |
7 | g.128254645A>G | CA369444092 | LEP | c.386A>G (p.Asp129Gly) c.383A>G (p.Asp128Gly) | |
7 | g.128254645A>T | CA369444093 | LEP | c.386A>T (p.Asp129Val) c.383A>T (p.Asp128Val) | |
7 | g.128254645_128254646insTAAGGT | CA1742271902 | LEP | c.386_387insTAAGGT (p.Asp129_Ser130insLysVal) c.383_384insTAAGGT (p.Asp128_Ser129insLysVal) | dbSNP |
7 | g.128254646C>A | CA369444094 | LEP | c.387C>A (p.Asp129Glu) c.384C>A (p.Asp128Glu) | |
7 | g.128254646C= | CA1742271905 | LEP | c.387C= (p.Asp129=) c.384C= (p.Asp128=) | |
7 | g.128254646C>G | CA4469708 | LEP | c.387C>G (p.Asp129Glu) c.384C>G (p.Asp128Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.128254646C>T | CA457857458 | LEP | c.387C>T (p.Asp129=) c.384C>T (p.Asp128=) | gnomAD v4 |
7 | g.128254647A= | CA1742271909 | LEP | c.388A= (p.Ser130=) c.385A= (p.Ser129=) | |
7 | g.128254647A>C | CA369444095 | LEP | c.388A>C (p.Ser130Arg) c.385A>C (p.Ser129Arg) | |
7 | g.128254647A>G | CA369444096 | LEP | c.388A>G (p.Ser130Gly) c.385A>G (p.Ser129Gly) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.128254647A>T | CA369444097 | LEP | c.388A>T (p.Ser130Cys) c.385A>T (p.Ser129Cys) | |
7 | g.128254648G>A | CA369444098 | LEP | c.389G>A (p.Ser130Asn) c.386G>A (p.Ser129Asn) | dbSNP COSMIC |
7 | g.128254648G>C | CA369444099 | LEP | c.389G>C (p.Ser130Thr) c.386G>C (p.Ser129Thr) | |
7 | g.128254648G= | CA1742271913 | LEP | c.389G= (p.Ser130=) c.386G= (p.Ser129=) | |
7 | g.128254648G>T | CA369444100 | LEP | c.389G>T (p.Ser130Ile) c.386G>T (p.Ser129Ile) | |
7 | g.128254649C>A | CA369444101 | LEP | c.390C>A (p.Ser130Arg) c.387C>A (p.Ser129Arg) | gnomAD v4 |
7 | g.128254649C= | CA1742271916 | LEP | c.390C= (p.Ser130=) c.387C= (p.Ser129=) | |
7 | g.128254649C>G | CA369444102 | LEP | c.390C>G (p.Ser130Arg) c.387C>G (p.Ser129Arg) | |
7 | g.128254649C>T | CA4469709 | LEP | c.390C>T (p.Ser130=) c.387C>T (p.Ser129=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.128254650C>A | CA369444103 | LEP | c.391C>A (p.Leu131Met) c.388C>A (p.Leu130Met) | |
7 | g.128254650C>G | CA369444104 | LEP | c.391C>G (p.Leu131Val) c.388C>G (p.Leu130Val) | |
7 | g.128254650C>T | CA457857460 | LEP | c.391C>T (p.Leu131=) c.388C>T (p.Leu130=) | gnomAD v4 |
7 | g.128254651T>A | CA369444105 | LEP | c.392T>A (p.Leu131Gln) c.389T>A (p.Leu130Gln) | |
7 | g.128254651T>C | CA369444106 | LEP | c.392T>C (p.Leu131Pro) c.389T>C (p.Leu130Pro) | |
7 | g.128254651T>G | CA369444107 | LEP | c.392T>G (p.Leu131Arg) c.389T>G (p.Leu130Arg) | |
7 | g.128254651_128254652delinsTG | CA1742271921 | LEP | c.392_393delinsTG (p.Leu131=) c.389_390delinsTG (p.Leu130=) | |
7 | g.128254652G>A | CA457857463 | LEP | c.393G>A (p.Leu131=) c.390G>A (p.Leu130=) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.128254652G>C | CA457857461 | LEP | c.393G>C (p.Leu131=) c.390G>C (p.Leu130=) | gnomAD v4 |
7 | g.128254652G= | CA1742271924 | LEP | c.393G= (p.Leu131=) c.390G= (p.Leu130=) | |
7 | g.128254652G>T | CA457857462 | LEP | c.393G>T (p.Leu131=) c.390G>T (p.Leu130=) | gnomAD v4 |
7 | g.128254657dup | CA645548817 | LEP | c.398dup (p.Val134CysfsTer?) c.395dup (p.Val133CysfsTer?) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
7 | g.128254657del | CA4469710 | LEP | c.398del (p.Gly133ValfsTer15) c.395del (p.Gly132ValfsTer15) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.128254653G>A | CA369444108 | LEP | c.394G>A (p.Gly132Arg) c.391G>A (p.Gly131Arg) | gnomAD v4 |
7 | g.128254653G>C | CA4469711 | LEP | c.394G>C (p.Gly132Arg) c.391G>C (p.Gly131Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.128254653G= | CA1742271925 | LEP | c.394G= (p.Gly132=) c.391G= (p.Gly131=) | |
7 | g.128254653G>T | CA369444109 | LEP | c.394G>T (p.Gly132Trp) c.391G>T (p.Gly131Trp) | |
7 | g.128254654G>A | CA369444110 | LEP | c.395G>A (p.Gly132Glu) c.392G>A (p.Gly131Glu) | COSMIC |
7 | g.128254654G>C | CA369444111 | LEP | c.395G>C (p.Gly132Ala) c.392G>C (p.Gly131Ala) | |
7 | g.128254654G>T | CA369444112 | LEP | c.395G>T (p.Gly132Val) c.392G>T (p.Gly131Val) | |
7 | g.128254655G>A | CA457857469 | LEP | c.396G>A (p.Gly132=) c.393G>A (p.Gly131=) | gnomAD v4 |
7 | g.128254655G>C | CA457857466 | LEP | c.396G>C (p.Gly132=) c.393G>C (p.Gly131=) | |
7 | g.128254655G= | CA1742271926 | LEP | c.396G= (p.Gly132=) c.393G= (p.Gly131=) | |
7 | g.128254655G>T | CA457857464 | LEP | c.396G>T (p.Gly132=) c.393G>T (p.Gly131=) | dbSNP gnomAD v2 |
7 | g.128254656G>A | CA369444113 | LEP | c.397G>A (p.Gly133Ser) c.394G>A (p.Gly132Ser) | |
7 | g.128254656G>C | CA369444115 | LEP | c.397G>C (p.Gly133Arg) c.394G>C (p.Gly132Arg) | |
7 | g.128254656G>T | CA369444114 | LEP | c.397G>T (p.Gly133Cys) c.394G>T (p.Gly132Cys) | |
7 | g.128254657G>A | CA369444116 | LEP | c.398G>A (p.Gly133Asp) c.395G>A (p.Gly132Asp) | dbSNP gnomAD v4 |
7 | g.128254657G>C | CA369444117 | LEP | c.398G>C (p.Gly133Ala) c.395G>C (p.Gly132Ala) | |
7 | g.128254657G= | CA1742271927 | LEP | c.398G= (p.Gly133=) c.395G= (p.Gly132=) | |
7 | g.128254657G>T | CA4469712 | LEP | c.398G>T (p.Gly133Val) c.395G>T (p.Gly132Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.128254658T>A | CA457857472 | LEP | c.399T>A (p.Gly133=) c.396T>A (p.Gly132=) | |
7 | g.128254658T>C | CA4469713 | LEP | c.399T>C (p.Gly133=) c.396T>C (p.Gly132=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.128254658T>G | CA457857471 | LEP | c.399T>G (p.Gly133=) c.396T>G (p.Gly132=) | dbSNP |
7 | g.128254658T= | CA1742271928 | LEP | c.399T= (p.Gly133=) c.396T= (p.Gly132=) | |
7 | g.128254659G>A | CA369444118 | LEP | c.400G>A (p.Val134Ile) c.397G>A (p.Val133Ile) | gnomAD v4 |
7 | g.128254659G>C | CA369444119 | LEP | c.400G>C (p.Val134Leu) c.397G>C (p.Val133Leu) | gnomAD v4 |
7 | g.128254659G>T | CA369444120 | LEP | c.400G>T (p.Val134Phe) c.397G>T (p.Val133Phe) | |
7 | g.128254660T>A | CA369444121 | LEP | c.401T>A (p.Val134Asp) c.398T>A (p.Val133Asp) | gnomAD v4 |
7 | g.128254660T>C | CA369444122 | LEP | c.401T>C (p.Val134Ala) c.398T>C (p.Val133Ala) | gnomAD v4 |
7 | g.128254660T>G | CA369444123 | LEP | c.401T>G (p.Val134Gly) c.398T>G (p.Val133Gly) | |
7 | g.128254661C>A | CA457857475 | LEP | c.402C>A (p.Val134=) c.399C>A (p.Val133=) | |
7 | g.128254661C= | CA1742271932 | LEP | c.402C= (p.Val134=) c.399C= (p.Val133=) | |
7 | g.128254661C>G | CA457857477 | LEP | c.402C>G (p.Val134=) c.399C>G (p.Val133=) | |
7 | g.128254661C>T | CA4469714 | LEP | c.402C>T (p.Val134=) c.399C>T (p.Val133=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.128254662C>A | CA369444124 | LEP | c.403C>A (p.Leu135Met) c.400C>A (p.Leu134Met) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.128254662C= | CA1742271933 | LEP | c.403C= (p.Leu135=) c.400C= (p.Leu134=) | |
7 | g.128254662C>G | CA369444125 | LEP | c.403C>G (p.Leu135Val) c.400C>G (p.Leu134Val) | |
7 | g.128254662C>T | CA457857478 | LEP | c.403C>T (p.Leu135=) c.400C>T (p.Leu134=) | |
7 | g.128254663T>A | CA369444128 | LEP | c.404T>A (p.Leu135Gln) c.401T>A (p.Leu134Gln) | |
7 | g.128254663T>C | CA369444126 | LEP | c.404T>C (p.Leu135Pro) c.401T>C (p.Leu134Pro) | |
7 | g.128254663T>G | CA369444127 | LEP | c.404T>G (p.Leu135Arg) c.401T>G (p.Leu134Arg) | |
7 | g.128254664G>A | CA457857479 | LEP | c.405G>A (p.Leu135=) c.402G>A (p.Leu134=) | |
7 | g.128254664G>C | CA457857480 | LEP | c.405G>C (p.Leu135=) c.402G>C (p.Leu134=) | |
7 | g.128254664G>T | CA457857481 | LEP | c.405G>T (p.Leu135=) c.402G>T (p.Leu134=) | |
7 | g.128254665G>A | CA369444129 | LEP | c.406G>A (p.Glu136Lys) c.403G>A (p.Glu135Lys) | |
7 | g.128254665G>C | CA369444130 | LEP | c.406G>C (p.Glu136Gln) c.403G>C (p.Glu135Gln) | |
7 | g.128254665G>T | CA369444131 | LEP | c.406G>T (p.Glu136Ter) c.403G>T (p.Glu135Ter) | |
7 | g.128254666A= | CA1742271936 | LEP | c.407A= (p.Glu136=) c.404A= (p.Glu135=) | |
7 | g.128254666A>C | CA369444132 | LEP | c.407A>C (p.Glu136Ala) c.404A>C (p.Glu135Ala) | dbSNP |
7 | g.128254666A>G | CA369444133 | LEP | c.407A>G (p.Glu136Gly) c.404A>G (p.Glu135Gly) | |
7 | g.128254666A>T | CA369444134 | LEP | c.407A>T (p.Glu136Val) c.404A>T (p.Glu135Val) | |
7 | g.128254667A>C | CA369444135 | LEP | c.408A>C (p.Glu136Asp) c.405A>C (p.Glu135Asp) | |
7 | g.128254667A>G | CA457857484 | LEP | c.408A>G (p.Glu136=) c.405A>G (p.Glu135=) | |
7 | g.128254667A>T | CA369444136 | LEP | c.408A>T (p.Glu136Asp) c.405A>T (p.Glu135Asp) | COSMIC |
7 | g.128254668G>A | CA369444137 | LEP | c.409G>A (p.Ala137Thr) c.406G>A (p.Ala136Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.128254668G>C | CA369444138 | LEP | c.409G>C (p.Ala137Pro) c.406G>C (p.Ala136Pro) | |
7 | g.128254668G= | CA1742271937 | LEP | c.409G= (p.Ala137=) c.406G= (p.Ala136=) | |
7 | g.128254668G>T | CA4469715 | LEP | c.409G>T (p.Ala137Ser) c.406G>T (p.Ala136Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.128254669C>A | CA369444139 | LEP | c.410C>A (p.Ala137Asp) c.407C>A (p.Ala136Asp) | gnomAD v4 |
7 | g.128254669C>G | CA369444141 | LEP | c.410C>G (p.Ala137Gly) c.407C>G (p.Ala136Gly) | |
7 | g.128254669C>T | CA369444140 | LEP | c.410C>T (p.Ala137Val) c.407C>T (p.Ala136Val) | |
7 | g.128254670T>A | CA457857486 | LEP | c.411T>A (p.Ala137=) c.408T>A (p.Ala136=) | |
7 | g.128254670T>C | CA457857488 | LEP | c.411T>C (p.Ala137=) c.408T>C (p.Ala136=) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.128254670T>G | CA457857490 | LEP | c.411T>G (p.Ala137=) c.408T>G (p.Ala136=) | gnomAD v4 |
7 | g.128254670T= | CA1742271939 | LEP | c.411T= (p.Ala137=) c.408T= (p.Ala136=) | |
7 | g.128254671T>A | CA369444142 | LEP | c.412T>A (p.Ser138Thr) c.409T>A (p.Ser137Thr) | |
7 | g.128254671T>C | CA369444144 | LEP | c.412T>C (p.Ser138Pro) c.409T>C (p.Ser137Pro) | |
7 | g.128254671T>G | CA369444143 | LEP | c.412T>G (p.Ser138Ala) c.409T>G (p.Ser137Ala) | gnomAD v4 |
7 | g.128254672C>A | CA369444145 | LEP | c.413C>A (p.Ser138Ter) c.410C>A (p.Ser137Ter) | |
7 | g.128254672C>G | CA369444147 | LEP | c.413C>G (p.Ser138Ter) c.410C>G (p.Ser137Ter) | |
7 | g.128254672C>T | CA369444146 | LEP | c.413C>T (p.Ser138Leu) c.410C>T (p.Ser137Leu) | |
7 | g.128254673A>C | CA457857494 | LEP | c.414A>C (p.Ser138=) c.411A>C (p.Ser137=) | |
7 | g.128254673A>G | CA457857496 | LEP | c.414A>G (p.Ser138=) c.411A>G (p.Ser137=) | |
7 | g.128254673A>T | CA457857493 | LEP | c.414A>T (p.Ser138=) c.411A>T (p.Ser137=) | |
7 | g.128254674G>A | CA369444148 | LEP | c.415G>A (p.Gly139Ser) c.412G>A (p.Gly138Ser) | |
7 | g.128254674G>C | CA369444149 | LEP | c.415G>C (p.Gly139Arg) c.412G>C (p.Gly138Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.128254674G= | CA1742271942 | LEP | c.415G= (p.Gly139=) c.412G= (p.Gly138=) | |
7 | g.128254674G>T | CA369444150 | LEP | c.415G>T (p.Gly139Cys) c.412G>T (p.Gly138Cys) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.128254675G>A | CA369444151 | LEP | c.416G>A (p.Gly139Asp) c.413G>A (p.Gly138Asp) | |
7 | g.128254675G>C | CA369444152 | LEP | c.416G>C (p.Gly139Ala) c.413G>C (p.Gly138Ala) | |
7 | g.128254675G= | CA1742271946 | LEP | c.416G= (p.Gly139=) c.413G= (p.Gly138=) | |
7 | g.128254675G>T | CA369444153 | LEP | c.416G>T (p.Gly139Val) c.413G>T (p.Gly138Val) | dbSNP gnomAD v4 |
7 | g.128254676del | CA2695208410 | LEP | c.417del (p.Tyr140ThrfsTer8) c.414del (p.Tyr139ThrfsTer8) | |
7 | g.128254676C>A | CA457857498 | LEP | c.417C>A (p.Gly139=) c.414C>A (p.Gly138=) | |
7 | g.128254676C>G | CA457857499 | LEP | c.417C>G (p.Gly139=) c.414C>G (p.Gly138=) | |
7 | g.128254676C>T | CA457857500 | LEP | c.417C>T (p.Gly139=) c.414C>T (p.Gly138=) | |
7 | g.128254677T>A | CA369444154 | LEP | c.418T>A (p.Tyr140Asn) c.415T>A (p.Tyr139Asn) | |
7 | g.128254677T>C | CA369444155 | LEP | c.418T>C (p.Tyr140His) c.415T>C (p.Tyr139His) | |
7 | g.128254677T>G | CA369444156 | LEP | c.418T>G (p.Tyr140Asp) c.415T>G (p.Tyr139Asp) | |
7 | g.128254678A>C | CA369444159 | LEP | c.419A>C (p.Tyr140Ser) c.416A>C (p.Tyr139Ser) | |
7 | g.128254678A>G | CA369444158 | LEP | c.419A>G (p.Tyr140Cys) c.416A>G (p.Tyr139Cys) | |
7 | g.128254678A>T | CA369444157 | LEP | c.419A>T (p.Tyr140Phe) c.416A>T (p.Tyr139Phe) | |
7 | g.128254679C>A | CA369444160 | LEP | c.420C>A (p.Tyr140Ter) c.417C>A (p.Tyr139Ter) | |
7 | g.128254679C>G | CA369444161 | LEP | c.420C>G (p.Tyr140Ter) c.417C>G (p.Tyr139Ter) | |
7 | g.128254679C>T | CA457857504 | LEP | c.420C>T (p.Tyr140=) c.417C>T (p.Tyr139=) | gnomAD v4 |
7 | g.128254680T>A | CA369444162 | LEP | c.421T>A (p.Ser141Thr) c.418T>A (p.Ser140Thr) | |
7 | g.128254680T>C | CA369444163 | LEP | c.421T>C (p.Ser141Pro) c.418T>C (p.Ser140Pro) | |
7 | g.128254680T>G | CA369444164 | LEP | c.421T>G (p.Ser141Ala) c.418T>G (p.Ser140Ala) |