Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
15 | g.74896160G>A | CA7662521 | MPI | c.679G>A (p.Gly227Arg) c.496G>A (p.Gly166Arg) c.529G>A (p.Gly177Arg) c.*575G>A (n.*575G>A) c.619G>A (p.Gly207Arg) c.256-1379G>A (n.256-1379G>A) c.346G>A (p.Gly116Arg) n.727G>A c.457G>A (p.Gly153Arg) c.667G>A (p.Gly223Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
15 | g.74896160G>C | CA393175770 | MPI | c.679G>C (p.Gly227Arg) c.496G>C (p.Gly166Arg) c.529G>C (p.Gly177Arg) c.*575G>C (n.*575G>C) c.619G>C (p.Gly207Arg) c.256-1379G>C (n.256-1379G>C) c.346G>C (p.Gly116Arg) n.727G>C c.457G>C (p.Gly153Arg) c.667G>C (p.Gly223Arg) | |
15 | g.74896160G= | CA2187901720 | MPI | c.679G= (p.Gly227=) c.496G= (p.Gly166=) c.529G= (p.Gly177=) c.*575G= (n.*575G=) c.619G= (p.Gly207=) c.256-1379G= (n.256-1379G=) c.346G= (p.Gly116=) n.727G= c.457G= (p.Gly153=) c.667G= (p.Gly223=) | |
15 | g.74896160G>T | CA393175771 | MPI | c.679G>T (p.Gly227Ter) c.496G>T (p.Gly166Ter) c.529G>T (p.Gly177Ter) c.*575G>T (n.*575G>T) c.619G>T (p.Gly207Ter) c.256-1379G>T (n.256-1379G>T) c.346G>T (p.Gly116Ter) n.727G>T c.457G>T (p.Gly153Ter) c.667G>T (p.Gly223Ter) | ClinVar gnomAD v4 |
15 | g.74896161G>A | CA393175772 | MPI | c.680G>A (p.Gly227Glu) c.497G>A (p.Gly166Glu) c.530G>A (p.Gly177Glu) c.*576G>A (n.*576G>A) c.620G>A (p.Gly207Glu) c.256-1378G>A (n.256-1378G>A) c.347G>A (p.Gly116Glu) n.728G>A c.458G>A (p.Gly153Glu) c.668G>A (p.Gly223Glu) | |
15 | g.74896161G>C | CA393175773 | MPI | c.680G>C (p.Gly227Ala) c.497G>C (p.Gly166Ala) c.530G>C (p.Gly177Ala) c.*576G>C (n.*576G>C) c.620G>C (p.Gly207Ala) c.256-1378G>C (n.256-1378G>C) c.347G>C (p.Gly116Ala) n.728G>C c.458G>C (p.Gly153Ala) c.668G>C (p.Gly223Ala) | |
15 | g.74896161G>T | CA393175774 | MPI | c.680G>T (p.Gly227Val) c.497G>T (p.Gly166Val) c.530G>T (p.Gly177Val) c.*576G>T (n.*576G>T) c.620G>T (p.Gly207Val) c.256-1378G>T (n.256-1378G>T) c.347G>T (p.Gly116Val) n.728G>T c.458G>T (p.Gly153Val) c.668G>T (p.Gly223Val) | gnomAD v4 |
15 | g.74896162A= | CA2187901725 | MPI | c.681A= (p.Gly227=) c.498A= (p.Gly166=) c.531A= (p.Gly177=) c.*577A= (n.*577A=) c.621A= (p.Gly207=) c.256-1377A= (n.256-1377A=) c.348A= (p.Gly116=) n.729A= c.459A= (p.Gly153=) c.669A= (p.Gly223=) | |
15 | g.74896162A>C | CA491491364 | MPI | c.681A>C (p.Gly227=) c.498A>C (p.Gly166=) c.531A>C (p.Gly177=) c.*577A>C (n.*577A>C) c.621A>C (p.Gly207=) c.256-1377A>C (n.256-1377A>C) c.348A>C (p.Gly116=) n.729A>C c.459A>C (p.Gly153=) c.669A>C (p.Gly223=) | gnomAD v4 |
15 | g.74896162A>G | CA491491362 | MPI | c.681A>G (p.Gly227=) c.498A>G (p.Gly166=) c.531A>G (p.Gly177=) c.*577A>G (n.*577A>G) c.621A>G (p.Gly207=) c.256-1377A>G (n.256-1377A>G) c.348A>G (p.Gly116=) n.729A>G c.459A>G (p.Gly153=) c.669A>G (p.Gly223=) | ClinVar dbSNP gnomAD v4 |
15 | g.74896162A>T | CA491491363 | MPI | c.681A>T (p.Gly227=) c.498A>T (p.Gly166=) c.531A>T (p.Gly177=) c.*577A>T (n.*577A>T) c.621A>T (p.Gly207=) c.256-1377A>T (n.256-1377A>T) c.348A>T (p.Gly116=) n.729A>T c.459A>T (p.Gly153=) c.669A>T (p.Gly223=) | |
15 | g.74896162_74896165delinsAAAC | CA2187901724 | MPI | c.681_684delinsAAAC (p.Gly227=) c.498_501delinsAAAC (p.Gly166=) c.531_534delinsAAAC (p.Gly177=) c.*577_*580delinsAAAC (n.*577_*580delinsAAAC) c.621_624delinsAAAC (p.Gly207=) c.256-1377_256-1374delinsAAAC (n.256-1377_256-1374delinsAAAC) c.348_351delinsAAAC (p.Gly116=) n.729_732delinsAAAC c.459_462delinsAAAC (p.Gly153=) c.669_672delinsAAAC (p.Gly223=) | |
15 | g.74896163A>C | CA393175775 | MPI | c.682A>C (p.Asn228His) c.499A>C (p.Asn167His) c.532A>C (p.Asn178His) c.*578A>C (n.*578A>C) c.622A>C (p.Asn208His) c.256-1376A>C (n.256-1376A>C) c.349A>C (p.Asn117His) n.730A>C c.460A>C (p.Asn154His) c.670A>C (p.Asn224His) | |
15 | g.74896163A>G | CA393175776 | MPI | c.682A>G (p.Asn228Asp) c.499A>G (p.Asn167Asp) c.532A>G (p.Asn178Asp) c.*578A>G (n.*578A>G) c.622A>G (p.Asn208Asp) c.256-1376A>G (n.256-1376A>G) c.349A>G (p.Asn117Asp) n.730A>G c.460A>G (p.Asn154Asp) c.670A>G (p.Asn224Asp) | |
15 | g.74896163A>T | CA393175777 | MPI | c.682A>T (p.Asn228Tyr) c.499A>T (p.Asn167Tyr) c.532A>T (p.Asn178Tyr) c.*578A>T (n.*578A>T) c.622A>T (p.Asn208Tyr) c.256-1376A>T (n.256-1376A>T) c.349A>T (p.Asn117Tyr) n.730A>T c.460A>T (p.Asn154Tyr) c.670A>T (p.Asn224Tyr) | |
15 | g.74896167_74896169del | CA7662522 | MPI | c.686_688del (p.Asn229del) c.503_505del (p.Asn168del) c.536_538del (p.Asn179del) c.*582_*584del (n.*582_*584del) c.626_628del (p.Asn209del) c.256-1372_256-1370del (n.256-1372_256-1370del) c.353_355del (p.Asn118del) n.734_736del c.464_466del (p.Asn155del) c.674_676del (p.Asn225del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.74896164A>C | CA393175778 | MPI | c.683A>C (p.Asn228Thr) c.500A>C (p.Asn167Thr) c.533A>C (p.Asn178Thr) c.*579A>C (n.*579A>C) c.623A>C (p.Asn208Thr) c.256-1375A>C (n.256-1375A>C) c.350A>C (p.Asn117Thr) n.731A>C c.461A>C (p.Asn154Thr) c.671A>C (p.Asn224Thr) | |
15 | g.74896164A>G | CA393175779 | MPI | c.683A>G (p.Asn228Ser) c.500A>G (p.Asn167Ser) c.533A>G (p.Asn178Ser) c.*579A>G (n.*579A>G) c.623A>G (p.Asn208Ser) c.256-1375A>G (n.256-1375A>G) c.350A>G (p.Asn117Ser) n.731A>G c.461A>G (p.Asn154Ser) c.671A>G (p.Asn224Ser) | |
15 | g.74896164A>T | CA393175780 | MPI | c.683A>T (p.Asn228Ile) c.500A>T (p.Asn167Ile) c.533A>T (p.Asn178Ile) c.*579A>T (n.*579A>T) c.623A>T (p.Asn208Ile) c.256-1375A>T (n.256-1375A>T) c.350A>T (p.Asn117Ile) n.731A>T c.461A>T (p.Asn154Ile) c.671A>T (p.Asn224Ile) | gnomAD v4 |
15 | g.74896165C>A | CA393175782 | MPI | c.684C>A (p.Asn228Lys) c.501C>A (p.Asn167Lys) c.534C>A (p.Asn178Lys) c.*580C>A (n.*580C>A) c.624C>A (p.Asn208Lys) c.256-1374C>A (n.256-1374C>A) c.351C>A (p.Asn117Lys) n.732C>A c.462C>A (p.Asn154Lys) c.672C>A (p.Asn224Lys) | |
15 | g.74896165C= | CA2187901736 | MPI | c.684C= (p.Asn228=) c.501C= (p.Asn167=) c.534C= (p.Asn178=) c.*580C= (n.*580C=) c.624C= (p.Asn208=) c.256-1374C= (n.256-1374C=) c.351C= (p.Asn117=) n.732C= c.462C= (p.Asn154=) c.672C= (p.Asn224=) | |
15 | g.74896165C>G | CA393175781 | MPI | c.684C>G (p.Asn228Lys) c.501C>G (p.Asn167Lys) c.534C>G (p.Asn178Lys) c.*580C>G (n.*580C>G) c.624C>G (p.Asn208Lys) c.256-1374C>G (n.256-1374C>G) c.351C>G (p.Asn117Lys) n.732C>G c.462C>G (p.Asn154Lys) c.672C>G (p.Asn224Lys) | |
15 | g.74896165C>T | CA180198 | MPI | c.684C>T (p.Asn228=) c.501C>T (p.Asn167=) c.534C>T (p.Asn178=) c.*580C>T (n.*580C>T) c.624C>T (p.Asn208=) c.256-1374C>T (n.256-1374C>T) c.351C>T (p.Asn117=) n.732C>T c.462C>T (p.Asn154=) c.672C>T (p.Asn224=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.74896166A>C | CA393175784 | MPI | c.685A>C (p.Asn229His) c.502A>C (p.Asn168His) c.535A>C (p.Asn179His) c.*581A>C (n.*581A>C) c.625A>C (p.Asn209His) c.256-1373A>C (n.256-1373A>C) c.352A>C (p.Asn118His) n.733A>C c.463A>C (p.Asn155His) c.673A>C (p.Asn225His) | |
15 | g.74896166A>G | CA393175783 | MPI | c.685A>G (p.Asn229Asp) c.502A>G (p.Asn168Asp) c.535A>G (p.Asn179Asp) c.*581A>G (n.*581A>G) c.625A>G (p.Asn209Asp) c.256-1373A>G (n.256-1373A>G) c.352A>G (p.Asn118Asp) n.733A>G c.463A>G (p.Asn155Asp) c.673A>G (p.Asn225Asp) | gnomAD v4 |
15 | g.74896166A>T | CA393175785 | MPI | c.685A>T (p.Asn229Tyr) c.502A>T (p.Asn168Tyr) c.535A>T (p.Asn179Tyr) c.*581A>T (n.*581A>T) c.625A>T (p.Asn209Tyr) c.256-1373A>T (n.256-1373A>T) c.352A>T (p.Asn118Tyr) n.733A>T c.463A>T (p.Asn155Tyr) c.673A>T (p.Asn225Tyr) | |
15 | g.74896167A>C | CA393175786 | MPI | c.686A>C (p.Asn229Thr) c.503A>C (p.Asn168Thr) c.536A>C (p.Asn179Thr) c.*582A>C (n.*582A>C) c.626A>C (p.Asn209Thr) c.256-1372A>C (n.256-1372A>C) c.353A>C (p.Asn118Thr) n.734A>C c.464A>C (p.Asn155Thr) c.674A>C (p.Asn225Thr) | |
15 | g.74896167A>G | CA393175788 | MPI | c.686A>G (p.Asn229Ser) c.503A>G (p.Asn168Ser) c.536A>G (p.Asn179Ser) c.*582A>G (n.*582A>G) c.626A>G (p.Asn209Ser) c.256-1372A>G (n.256-1372A>G) c.353A>G (p.Asn118Ser) n.734A>G c.464A>G (p.Asn155Ser) c.674A>G (p.Asn225Ser) | |
15 | g.74896167A>T | CA393175787 | MPI | c.686A>T (p.Asn229Ile) c.503A>T (p.Asn168Ile) c.536A>T (p.Asn179Ile) c.*582A>T (n.*582A>T) c.626A>T (p.Asn209Ile) c.256-1372A>T (n.256-1372A>T) c.353A>T (p.Asn118Ile) n.734A>T c.464A>T (p.Asn155Ile) c.674A>T (p.Asn225Ile) | |
15 | g.74896168C>A | CA393175789 | MPI | c.687C>A (p.Asn229Lys) c.504C>A (p.Asn168Lys) c.537C>A (p.Asn179Lys) c.*583C>A (n.*583C>A) c.627C>A (p.Asn209Lys) c.256-1371C>A (n.256-1371C>A) c.354C>A (p.Asn118Lys) n.735C>A c.465C>A (p.Asn155Lys) c.675C>A (p.Asn225Lys) | |
15 | g.74896168C>G | CA393175790 | MPI | c.687C>G (p.Asn229Lys) c.504C>G (p.Asn168Lys) c.537C>G (p.Asn179Lys) c.*583C>G (n.*583C>G) c.627C>G (p.Asn209Lys) c.256-1371C>G (n.256-1371C>G) c.354C>G (p.Asn118Lys) n.735C>G c.465C>G (p.Asn155Lys) c.675C>G (p.Asn225Lys) | |
15 | g.74896168C>T | CA491491369 | MPI | c.687C>T (p.Asn229=) c.504C>T (p.Asn168=) c.537C>T (p.Asn179=) c.*583C>T (n.*583C>T) c.627C>T (p.Asn209=) c.256-1371C>T (n.256-1371C>T) c.354C>T (p.Asn118=) n.735C>T c.465C>T (p.Asn155=) c.675C>T (p.Asn225=) | |
15 | g.74896169A>C | CA393175791 | MPI | c.688A>C (p.Met230Leu) c.505A>C (p.Met169Leu) c.538A>C (p.Met180Leu) c.*584A>C (n.*584A>C) c.628A>C (p.Met210Leu) c.256-1370A>C (n.256-1370A>C) c.355A>C (p.Met119Leu) n.736A>C c.466A>C (p.Met156Leu) c.676A>C (p.Met226Leu) | |
15 | g.74896169A>G | CA393175793 | MPI | c.688A>G (p.Met230Val) c.505A>G (p.Met169Val) c.538A>G (p.Met180Val) c.*584A>G (n.*584A>G) c.628A>G (p.Met210Val) c.256-1370A>G (n.256-1370A>G) c.355A>G (p.Met119Val) n.736A>G c.466A>G (p.Met156Val) c.676A>G (p.Met226Val) | gnomAD v4 |
15 | g.74896169A>T | CA393175792 | MPI | c.688A>T (p.Met230Leu) c.505A>T (p.Met169Leu) c.538A>T (p.Met180Leu) c.*584A>T (n.*584A>T) c.628A>T (p.Met210Leu) c.256-1370A>T (n.256-1370A>T) c.355A>T (p.Met119Leu) n.736A>T c.466A>T (p.Met156Leu) c.676A>T (p.Met226Leu) | |
15 | g.74896170T>A | CA272825414 | MPI | c.689T>A (p.Met230Lys) c.506T>A (p.Met169Lys) c.539T>A (p.Met180Lys) c.*585T>A (n.*585T>A) c.629T>A (p.Met210Lys) c.256-1369T>A (n.256-1369T>A) c.356T>A (p.Met119Lys) n.737T>A c.467T>A (p.Met156Lys) c.677T>A (p.Met226Lys) | dbSNP |
15 | g.74896170T>C | CA7662523 | MPI | c.689T>C (p.Met230Thr) c.506T>C (p.Met169Thr) c.539T>C (p.Met180Thr) c.*585T>C (n.*585T>C) c.629T>C (p.Met210Thr) c.256-1369T>C (n.256-1369T>C) c.356T>C (p.Met119Thr) n.737T>C c.467T>C (p.Met156Thr) c.677T>C (p.Met226Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.74896170T>G | CA393175794 | MPI | c.689T>G (p.Met230Arg) c.506T>G (p.Met169Arg) c.539T>G (p.Met180Arg) c.*585T>G (n.*585T>G) c.629T>G (p.Met210Arg) c.256-1369T>G (n.256-1369T>G) c.356T>G (p.Met119Arg) n.737T>G c.467T>G (p.Met156Arg) c.677T>G (p.Met226Arg) | |
15 | g.74896170T= | CA2187901739 | MPI | c.689T= (p.Met230=) c.506T= (p.Met169=) c.539T= (p.Met180=) c.*585T= (n.*585T=) c.629T= (p.Met210=) c.256-1369T= (n.256-1369T=) c.356T= (p.Met119=) n.737T= c.467T= (p.Met156=) c.677T= (p.Met226=) | |
15 | g.74896171G>A | CA393175795 | MPI | c.690G>A (p.Met230Ile) c.507G>A (p.Met169Ile) c.540G>A (p.Met180Ile) c.*586G>A (n.*586G>A) c.630G>A (p.Met210Ile) c.256-1368G>A (n.256-1368G>A) c.357G>A (p.Met119Ile) n.738G>A c.468G>A (p.Met156Ile) c.678G>A (p.Met226Ile) | gnomAD v4 |
15 | g.74896171G>C | CA393175796 | MPI | c.690G>C (p.Met230Ile) c.507G>C (p.Met169Ile) c.540G>C (p.Met180Ile) c.*586G>C (n.*586G>C) c.630G>C (p.Met210Ile) c.256-1368G>C (n.256-1368G>C) c.357G>C (p.Met119Ile) n.738G>C c.468G>C (p.Met156Ile) c.678G>C (p.Met226Ile) | |
15 | g.74896171G>T | CA393175797 | MPI | c.690G>T (p.Met230Ile) c.507G>T (p.Met169Ile) c.540G>T (p.Met180Ile) c.*586G>T (n.*586G>T) c.630G>T (p.Met210Ile) c.256-1368G>T (n.256-1368G>T) c.357G>T (p.Met119Ile) n.738G>T c.468G>T (p.Met156Ile) c.678G>T (p.Met226Ile) | gnomAD v4 |
15 | g.74896172G>A | CA393175798 | MPI | c.691G>A (p.Glu231Lys) c.508G>A (p.Glu170Lys) c.541G>A (p.Glu181Lys) c.*587G>A (n.*587G>A) c.631G>A (p.Glu211Lys) c.256-1367G>A (n.256-1367G>A) c.358G>A (p.Glu120Lys) n.739G>A c.469G>A (p.Glu157Lys) c.679G>A (p.Glu227Lys) | |
15 | g.74896172G>C | CA393175799 | MPI | c.691G>C (p.Glu231Gln) c.508G>C (p.Glu170Gln) c.541G>C (p.Glu181Gln) c.*587G>C (n.*587G>C) c.631G>C (p.Glu211Gln) c.256-1367G>C (n.256-1367G>C) c.358G>C (p.Glu120Gln) n.739G>C c.469G>C (p.Glu157Gln) c.679G>C (p.Glu227Gln) | |
15 | g.74896172G>T | CA393175800 | MPI | c.691G>T (p.Glu231Ter) c.508G>T (p.Glu170Ter) c.541G>T (p.Glu181Ter) c.*587G>T (n.*587G>T) c.631G>T (p.Glu211Ter) c.256-1367G>T (n.256-1367G>T) c.358G>T (p.Glu120Ter) n.739G>T c.469G>T (p.Glu157Ter) c.679G>T (p.Glu227Ter) | |
15 | g.74896173del | CA2840616854 | MPI | c.692del (p.Glu231GlyfsTer27) c.509del (p.Glu170GlyfsTer27) c.542del (p.Glu181GlyfsTer27) c.*588del (n.*588del) c.632del (p.Glu211GlyfsTer27) c.256-1366del (n.256-1366del) c.359del (p.Glu120GlyfsTer27) n.740del c.470del (p.Glu157GlyfsTer27) c.680del (p.Glu227GlyfsTer27) | |
15 | g.74896173A>C | CA393175801 | MPI | c.692A>C (p.Glu231Ala) c.509A>C (p.Glu170Ala) c.542A>C (p.Glu181Ala) c.*588A>C (n.*588A>C) c.632A>C (p.Glu211Ala) c.256-1366A>C (n.256-1366A>C) c.359A>C (p.Glu120Ala) n.740A>C c.470A>C (p.Glu157Ala) c.680A>C (p.Glu227Ala) | |
15 | g.74896173A>G | CA393175802 | MPI | c.692A>G (p.Glu231Gly) c.509A>G (p.Glu170Gly) c.542A>G (p.Glu181Gly) c.*588A>G (n.*588A>G) c.632A>G (p.Glu211Gly) c.256-1366A>G (n.256-1366A>G) c.359A>G (p.Glu120Gly) n.740A>G c.470A>G (p.Glu157Gly) c.680A>G (p.Glu227Gly) | gnomAD v4 |
15 | g.74896173A>T | CA393175803 | MPI | c.692A>T (p.Glu231Val) c.509A>T (p.Glu170Val) c.542A>T (p.Glu181Val) c.*588A>T (n.*588A>T) c.632A>T (p.Glu211Val) c.256-1366A>T (n.256-1366A>T) c.359A>T (p.Glu120Val) n.740A>T c.470A>T (p.Glu157Val) c.680A>T (p.Glu227Val) | gnomAD v4 |
15 | g.74896174G>A | CA491491371 | MPI | c.693G>A (p.Glu231=) c.510G>A (p.Glu170=) c.543G>A (p.Glu181=) c.*589G>A (n.*589G>A) c.633G>A (p.Glu211=) c.256-1365G>A (n.256-1365G>A) c.360G>A (p.Glu120=) n.741G>A c.471G>A (p.Glu157=) c.681G>A (p.Glu227=) | ClinVar dbSNP gnomAD v4 |
15 | g.74896174G>C | CA393175805 | MPI | c.693G>C (p.Glu231Asp) c.510G>C (p.Glu170Asp) c.543G>C (p.Glu181Asp) c.*589G>C (n.*589G>C) c.633G>C (p.Glu211Asp) c.256-1365G>C (n.256-1365G>C) c.360G>C (p.Glu120Asp) n.741G>C c.471G>C (p.Glu157Asp) c.681G>C (p.Glu227Asp) | |
15 | g.74896174G>T | CA393175804 | MPI | c.693G>T (p.Glu231Asp) c.510G>T (p.Glu170Asp) c.543G>T (p.Glu181Asp) c.*589G>T (n.*589G>T) c.633G>T (p.Glu211Asp) c.256-1365G>T (n.256-1365G>T) c.360G>T (p.Glu120Asp) n.741G>T c.471G>T (p.Glu157Asp) c.681G>T (p.Glu227Asp) | |
15 | g.74896175G>A | CA7662524 | MPI | c.694G>A (p.Asp232Asn) c.511G>A (p.Asp171Asn) c.544G>A (p.Asp182Asn) c.*590G>A (n.*590G>A) c.634G>A (p.Asp212Asn) c.256-1364G>A (n.256-1364G>A) c.361G>A (p.Asp121Asn) n.742G>A c.472G>A (p.Asp158Asn) c.682G>A (p.Asp228Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.74896175G>C | CA393175806 | MPI | c.694G>C (p.Asp232His) c.511G>C (p.Asp171His) c.544G>C (p.Asp182His) c.*590G>C (n.*590G>C) c.634G>C (p.Asp212His) c.256-1364G>C (n.256-1364G>C) c.361G>C (p.Asp121His) n.742G>C c.472G>C (p.Asp158His) c.682G>C (p.Asp228His) | |
15 | g.74896175G= | CA2187901744 | MPI | c.694G= (p.Asp232=) c.511G= (p.Asp171=) c.544G= (p.Asp182=) c.*590G= (n.*590G=) c.634G= (p.Asp212=) c.256-1364G= (n.256-1364G=) c.361G= (p.Asp121=) n.742G= c.472G= (p.Asp158=) c.682G= (p.Asp228=) | |
15 | g.74896175G>T | CA393175807 | MPI | c.694G>T (p.Asp232Tyr) c.511G>T (p.Asp171Tyr) c.544G>T (p.Asp182Tyr) c.*590G>T (n.*590G>T) c.634G>T (p.Asp212Tyr) c.256-1364G>T (n.256-1364G>T) c.361G>T (p.Asp121Tyr) n.742G>T c.472G>T (p.Asp158Tyr) c.682G>T (p.Asp228Tyr) | |
15 | g.74896176A= | CA2187901747 | MPI | c.695A= (p.Asp232=) c.512A= (p.Asp171=) c.545A= (p.Asp182=) c.*591A= (n.*591A=) c.635A= (p.Asp212=) c.256-1363A= (n.256-1363A=) c.362A= (p.Asp121=) n.743A= c.473A= (p.Asp158=) c.683A= (p.Asp228=) | |
15 | g.74896176A>C | CA393175808 | MPI | c.695A>C (p.Asp232Ala) c.512A>C (p.Asp171Ala) c.545A>C (p.Asp182Ala) c.*591A>C (n.*591A>C) c.635A>C (p.Asp212Ala) c.256-1363A>C (n.256-1363A>C) c.362A>C (p.Asp121Ala) n.743A>C c.473A>C (p.Asp158Ala) c.683A>C (p.Asp228Ala) | dbSNP gnomAD v2 |
15 | g.74896176A>G | CA10647407 | MPI | c.695A>G (p.Asp232Gly) c.512A>G (p.Asp171Gly) c.545A>G (p.Asp182Gly) c.*591A>G (n.*591A>G) c.635A>G (p.Asp212Gly) c.256-1363A>G (n.256-1363A>G) c.362A>G (p.Asp121Gly) n.743A>G c.473A>G (p.Asp158Gly) c.683A>G (p.Asp228Gly) | ClinVar dbSNP gnomAD v4 |
15 | g.74896176A>T | CA7662525 | MPI | c.695A>T (p.Asp232Val) c.512A>T (p.Asp171Val) c.545A>T (p.Asp182Val) c.*591A>T (n.*591A>T) c.635A>T (p.Asp212Val) c.256-1363A>T (n.256-1363A>T) c.362A>T (p.Asp121Val) n.743A>T c.473A>T (p.Asp158Val) c.683A>T (p.Asp228Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.74896177C>A | CA393175809 | MPI | c.696C>A (p.Asp232Glu) c.513C>A (p.Asp171Glu) c.546C>A (p.Asp182Glu) c.*592C>A (n.*592C>A) c.636C>A (p.Asp212Glu) c.256-1362C>A (n.256-1362C>A) c.363C>A (p.Asp121Glu) n.744C>A c.474C>A (p.Asp158Glu) c.684C>A (p.Asp228Glu) | |
15 | g.74896177C= | CA2187901751 | MPI | c.696C= (p.Asp232=) c.513C= (p.Asp171=) c.546C= (p.Asp182=) c.*592C= (n.*592C=) c.636C= (p.Asp212=) c.256-1362C= (n.256-1362C=) c.363C= (p.Asp121=) n.744C= c.474C= (p.Asp158=) c.684C= (p.Asp228=) | |
15 | g.74896177C>G | CA393175810 | MPI | c.696C>G (p.Asp232Glu) c.513C>G (p.Asp171Glu) c.546C>G (p.Asp182Glu) c.*592C>G (n.*592C>G) c.636C>G (p.Asp212Glu) c.256-1362C>G (n.256-1362C>G) c.363C>G (p.Asp121Glu) n.744C>G c.474C>G (p.Asp158Glu) c.684C>G (p.Asp228Glu) | |
15 | g.74896177C>T | CA491491372 | MPI | c.696C>T (p.Asp232=) c.513C>T (p.Asp171=) c.546C>T (p.Asp182=) c.*592C>T (n.*592C>T) c.636C>T (p.Asp212=) c.256-1362C>T (n.256-1362C>T) c.363C>T (p.Asp121=) n.744C>T c.474C>T (p.Asp158=) c.684C>T (p.Asp228=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.74896178A= | CA2187901756 | MPI | c.697A= (p.Ile233=) c.514A= (p.Ile172=) c.547A= (p.Ile183=) c.*593A= (n.*593A=) c.637A= (p.Ile213=) c.256-1361A= (n.256-1361A=) c.364A= (p.Ile122=) n.745A= c.475A= (p.Ile159=) c.685A= (p.Ile229=) | |
15 | g.74896178A>C | CA7662526 | MPI | c.697A>C (p.Ile233Leu) c.514A>C (p.Ile172Leu) c.547A>C (p.Ile183Leu) c.*593A>C (n.*593A>C) c.637A>C (p.Ile213Leu) c.256-1361A>C (n.256-1361A>C) c.364A>C (p.Ile122Leu) n.745A>C c.475A>C (p.Ile159Leu) c.685A>C (p.Ile229Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.74896178A>G | CA393175811 | MPI | c.697A>G (p.Ile233Val) c.514A>G (p.Ile172Val) c.547A>G (p.Ile183Val) c.*593A>G (n.*593A>G) c.637A>G (p.Ile213Val) c.256-1361A>G (n.256-1361A>G) c.364A>G (p.Ile122Val) n.745A>G c.475A>G (p.Ile159Val) c.685A>G (p.Ile229Val) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.74896178A>T | CA393175812 | MPI | c.697A>T (p.Ile233Phe) c.514A>T (p.Ile172Phe) c.547A>T (p.Ile183Phe) c.*593A>T (n.*593A>T) c.637A>T (p.Ile213Phe) c.256-1361A>T (n.256-1361A>T) c.364A>T (p.Ile122Phe) n.745A>T c.475A>T (p.Ile159Phe) c.685A>T (p.Ile229Phe) | |
15 | g.74896179T>A | CA393175815 | MPI | c.698T>A (p.Ile233Asn) c.515T>A (p.Ile172Asn) c.548T>A (p.Ile183Asn) c.*594T>A (n.*594T>A) c.638T>A (p.Ile213Asn) c.256-1360T>A (n.256-1360T>A) c.365T>A (p.Ile122Asn) n.746T>A c.476T>A (p.Ile159Asn) c.686T>A (p.Ile229Asn) | |
15 | g.74896179T>C | CA393175814 | MPI | c.698T>C (p.Ile233Thr) c.515T>C (p.Ile172Thr) c.548T>C (p.Ile183Thr) c.*594T>C (n.*594T>C) c.638T>C (p.Ile213Thr) c.256-1360T>C (n.256-1360T>C) c.365T>C (p.Ile122Thr) n.746T>C c.476T>C (p.Ile159Thr) c.686T>C (p.Ile229Thr) | |
15 | g.74896179T>G | CA393175813 | MPI | c.698T>G (p.Ile233Ser) c.515T>G (p.Ile172Ser) c.548T>G (p.Ile183Ser) c.*594T>G (n.*594T>G) c.638T>G (p.Ile213Ser) c.256-1360T>G (n.256-1360T>G) c.365T>G (p.Ile122Ser) n.746T>G c.476T>G (p.Ile159Ser) c.686T>G (p.Ile229Ser) | |
15 | g.74896180C>A | CA491491373 | MPI | c.699C>A (p.Ile233=) c.516C>A (p.Ile172=) c.549C>A (p.Ile183=) c.*595C>A (n.*595C>A) c.639C>A (p.Ile213=) c.256-1359C>A (n.256-1359C>A) c.366C>A (p.Ile122=) n.747C>A c.477C>A (p.Ile159=) c.687C>A (p.Ile229=) | gnomAD v4 COSMIC |
15 | g.74896180C>G | CA393175816 | MPI | c.699C>G (p.Ile233Met) c.516C>G (p.Ile172Met) c.549C>G (p.Ile183Met) c.*595C>G (n.*595C>G) c.639C>G (p.Ile213Met) c.256-1359C>G (n.256-1359C>G) c.366C>G (p.Ile122Met) n.747C>G c.477C>G (p.Ile159Met) c.687C>G (p.Ile229Met) | |
15 | g.74896180C>T | CA491491374 | MPI | c.699C>T (p.Ile233=) c.516C>T (p.Ile172=) c.549C>T (p.Ile183=) c.*595C>T (n.*595C>T) c.639C>T (p.Ile213=) c.256-1359C>T (n.256-1359C>T) c.366C>T (p.Ile122=) n.747C>T c.477C>T (p.Ile159=) c.687C>T (p.Ile229=) | ClinVar COSMIC |
15 | g.74896181T>A | CA393175817 | MPI | c.700T>A (p.Phe234Ile) c.517T>A (p.Phe173Ile) c.550T>A (p.Phe184Ile) c.*596T>A (n.*596T>A) c.640T>A (p.Phe214Ile) c.256-1358T>A (n.256-1358T>A) c.367T>A (p.Phe123Ile) n.748T>A c.478T>A (p.Phe160Ile) c.688T>A (p.Phe230Ile) | |
15 | g.74896181T>C | CA393175818 | MPI | c.700T>C (p.Phe234Leu) c.517T>C (p.Phe173Leu) c.550T>C (p.Phe184Leu) c.*596T>C (n.*596T>C) c.640T>C (p.Phe214Leu) c.256-1358T>C (n.256-1358T>C) c.367T>C (p.Phe123Leu) n.748T>C c.478T>C (p.Phe160Leu) c.688T>C (p.Phe230Leu) | gnomAD v4 |
15 | g.74896181T>G | CA393175819 | MPI | c.700T>G (p.Phe234Val) c.517T>G (p.Phe173Val) c.550T>G (p.Phe184Val) c.*596T>G (n.*596T>G) c.640T>G (p.Phe214Val) c.256-1358T>G (n.256-1358T>G) c.367T>G (p.Phe123Val) n.748T>G c.478T>G (p.Phe160Val) c.688T>G (p.Phe230Val) | |
15 | g.74896182T>A | CA393175820 | MPI | c.701T>A (p.Phe234Tyr) c.518T>A (p.Phe173Tyr) c.551T>A (p.Phe184Tyr) c.*597T>A (n.*597T>A) c.641T>A (p.Phe214Tyr) c.256-1357T>A (n.256-1357T>A) c.368T>A (p.Phe123Tyr) n.749T>A c.479T>A (p.Phe160Tyr) c.689T>A (p.Phe230Tyr) | |
15 | g.74896182T>C | CA393175821 | MPI | c.701T>C (p.Phe234Ser) c.518T>C (p.Phe173Ser) c.551T>C (p.Phe184Ser) c.*597T>C (n.*597T>C) c.641T>C (p.Phe214Ser) c.256-1357T>C (n.256-1357T>C) c.368T>C (p.Phe123Ser) n.749T>C c.479T>C (p.Phe160Ser) c.689T>C (p.Phe230Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.74896182T>G | CA393175822 | MPI | c.701T>G (p.Phe234Cys) c.518T>G (p.Phe173Cys) c.551T>G (p.Phe184Cys) c.*597T>G (n.*597T>G) c.641T>G (p.Phe214Cys) c.256-1357T>G (n.256-1357T>G) c.368T>G (p.Phe123Cys) n.749T>G c.479T>G (p.Phe160Cys) c.689T>G (p.Phe230Cys) | gnomAD v4 |
15 | g.74896182T= | CA2187901762 | MPI | c.701T= (p.Phe234=) c.518T= (p.Phe173=) c.551T= (p.Phe184=) c.*597T= (n.*597T=) c.641T= (p.Phe214=) c.256-1357T= (n.256-1357T=) c.368T= (p.Phe123=) n.749T= c.479T= (p.Phe160=) c.689T= (p.Phe230=) | |
15 | g.74896183T>A | CA393175823 | MPI | c.702T>A (p.Phe234Leu) c.519T>A (p.Phe173Leu) c.552T>A (p.Phe184Leu) c.*598T>A (n.*598T>A) c.642T>A (p.Phe214Leu) c.256-1356T>A (n.256-1356T>A) c.369T>A (p.Phe123Leu) n.750T>A c.480T>A (p.Phe160Leu) c.690T>A (p.Phe230Leu) | |
15 | g.74896183T>C | CA491491375 | MPI | c.702T>C (p.Phe234=) c.519T>C (p.Phe173=) c.552T>C (p.Phe184=) c.*598T>C (n.*598T>C) c.642T>C (p.Phe214=) c.256-1356T>C (n.256-1356T>C) c.369T>C (p.Phe123=) n.750T>C c.480T>C (p.Phe160=) c.690T>C (p.Phe230=) | |
15 | g.74896183T>G | CA393175824 | MPI | c.702T>G (p.Phe234Leu) c.519T>G (p.Phe173Leu) c.552T>G (p.Phe184Leu) c.*598T>G (n.*598T>G) c.642T>G (p.Phe214Leu) c.256-1356T>G (n.256-1356T>G) c.369T>G (p.Phe123Leu) n.750T>G c.480T>G (p.Phe160Leu) c.690T>G (p.Phe230Leu) | |
15 | g.74896184G>A | CA393175825 | MPI | c.703G>A (p.Gly235Arg) c.520G>A (p.Gly174Arg) c.553G>A (p.Gly185Arg) c.*599G>A (n.*599G>A) c.643G>A (p.Gly215Arg) c.256-1355G>A (n.256-1355G>A) c.370G>A (p.Gly124Arg) n.751G>A c.481G>A (p.Gly161Arg) c.691G>A (p.Gly231Arg) | |
15 | g.74896184G>C | CA393175826 | MPI | c.703G>C (p.Gly235Arg) c.520G>C (p.Gly174Arg) c.553G>C (p.Gly185Arg) c.*599G>C (n.*599G>C) c.643G>C (p.Gly215Arg) c.256-1355G>C (n.256-1355G>C) c.370G>C (p.Gly124Arg) n.751G>C c.481G>C (p.Gly161Arg) c.691G>C (p.Gly231Arg) | |
15 | g.74896184G>T | CA393175827 | MPI | c.703G>T (p.Gly235Trp) c.520G>T (p.Gly174Trp) c.553G>T (p.Gly185Trp) c.*599G>T (n.*599G>T) c.643G>T (p.Gly215Trp) c.256-1355G>T (n.256-1355G>T) c.370G>T (p.Gly124Trp) n.751G>T c.481G>T (p.Gly161Trp) c.691G>T (p.Gly231Trp) | |
15 | g.74896187dup | CA2580089994 | MPI | c.706dup (p.Glu236GlyfsTer13) c.523dup (p.Glu175GlyfsTer13) c.556dup (p.Glu186GlyfsTer13) c.*602dup (n.*602dup) c.646dup (p.Glu216GlyfsTer13) c.256-1352dup (n.256-1352dup) c.373dup (p.Glu125GlyfsTer13) n.754dup c.484dup (p.Glu162GlyfsTer13) c.694dup (p.Glu232GlyfsTer13) | ClinVar |
15 | g.74896187del | CA2839687375 | MPI | c.706del (p.Glu236SerfsTer22) c.523del (p.Glu175SerfsTer22) c.556del (p.Glu186SerfsTer22) c.*602del (n.*602del) c.646del (p.Glu216SerfsTer22) c.256-1352del (n.256-1352del) c.373del (p.Glu125SerfsTer22) n.754del c.484del (p.Glu162SerfsTer22) c.694del (p.Glu232SerfsTer22) | |
15 | g.74896185G>A | CA393175830 | MPI | c.704G>A (p.Gly235Glu) c.521G>A (p.Gly174Glu) c.554G>A (p.Gly185Glu) c.*600G>A (n.*600G>A) c.644G>A (p.Gly215Glu) c.256-1354G>A (n.256-1354G>A) c.371G>A (p.Gly124Glu) n.752G>A c.482G>A (p.Gly161Glu) c.692G>A (p.Gly231Glu) | |
15 | g.74896185G>C | CA393175829 | MPI | c.704G>C (p.Gly235Ala) c.521G>C (p.Gly174Ala) c.554G>C (p.Gly185Ala) c.*600G>C (n.*600G>C) c.644G>C (p.Gly215Ala) c.256-1354G>C (n.256-1354G>C) c.371G>C (p.Gly124Ala) n.752G>C c.482G>C (p.Gly161Ala) c.692G>C (p.Gly231Ala) | |
15 | g.74896185G>T | CA393175828 | MPI | c.704G>T (p.Gly235Val) c.521G>T (p.Gly174Val) c.554G>T (p.Gly185Val) c.*600G>T (n.*600G>T) c.644G>T (p.Gly215Val) c.256-1354G>T (n.256-1354G>T) c.371G>T (p.Gly124Val) n.752G>T c.482G>T (p.Gly161Val) c.692G>T (p.Gly231Val) | |
15 | g.74896186G>A | CA491491376 | MPI | c.705G>A (p.Gly235=) c.522G>A (p.Gly174=) c.555G>A (p.Gly185=) c.*601G>A (n.*601G>A) c.645G>A (p.Gly215=) c.256-1353G>A (n.256-1353G>A) c.372G>A (p.Gly124=) n.753G>A c.483G>A (p.Gly161=) c.693G>A (p.Gly231=) | |
15 | g.74896186G>C | CA491491377 | MPI | c.705G>C (p.Gly235=) c.522G>C (p.Gly174=) c.555G>C (p.Gly185=) c.*601G>C (n.*601G>C) c.645G>C (p.Gly215=) c.256-1353G>C (n.256-1353G>C) c.372G>C (p.Gly124=) n.753G>C c.483G>C (p.Gly161=) c.693G>C (p.Gly231=) | |
15 | g.74896186G>T | CA491491378 | MPI | c.705G>T (p.Gly235=) c.522G>T (p.Gly174=) c.555G>T (p.Gly185=) c.*601G>T (n.*601G>T) c.645G>T (p.Gly215=) c.256-1353G>T (n.256-1353G>T) c.372G>T (p.Gly124=) n.753G>T c.483G>T (p.Gly161=) c.693G>T (p.Gly231=) | |
15 | g.74896187G>A | CA393175831 | MPI | c.706G>A (p.Glu236Lys) c.523G>A (p.Glu175Lys) c.556G>A (p.Glu186Lys) c.*602G>A (n.*602G>A) c.646G>A (p.Glu216Lys) c.256-1352G>A (n.256-1352G>A) c.373G>A (p.Glu125Lys) n.754G>A c.484G>A (p.Glu162Lys) c.694G>A (p.Glu232Lys) | COSMIC |
15 | g.74896187G>C | CA393175832 | MPI | c.706G>C (p.Glu236Gln) c.523G>C (p.Glu175Gln) c.556G>C (p.Glu186Gln) c.*602G>C (n.*602G>C) c.646G>C (p.Glu216Gln) c.256-1352G>C (n.256-1352G>C) c.373G>C (p.Glu125Gln) n.754G>C c.484G>C (p.Glu162Gln) c.694G>C (p.Glu232Gln) | |
15 | g.74896187G>T | CA393175833 | MPI | c.706G>T (p.Glu236Ter) c.523G>T (p.Glu175Ter) c.556G>T (p.Glu186Ter) c.*602G>T (n.*602G>T) c.646G>T (p.Glu216Ter) c.256-1352G>T (n.256-1352G>T) c.373G>T (p.Glu125Ter) n.754G>T c.484G>T (p.Glu162Ter) c.694G>T (p.Glu232Ter) | |
15 | g.74896188_74896189del | CA2629530479 | MPI | c.707_708del (p.Glu236AlafsTer12) c.524_525del (p.Glu175AlafsTer12) c.557_558del (p.Glu186AlafsTer12) c.647_648del (p.Glu216AlafsTer12) c.256-1351_256-1350del (n.256-1351_256-1350del) c.374_375del (p.Glu125AlafsTer12) n.755_756del c.485_486del (p.Glu162AlafsTer12) c.695_696del (p.Glu232AlafsTer12) | gnomAD v4 |
15 | g.74896188A>C | CA393175834 | MPI | c.707A>C (p.Glu236Ala) c.524A>C (p.Glu175Ala) c.557A>C (p.Glu186Ala) c.*603A>C (n.*603A>C) c.647A>C (p.Glu216Ala) c.256-1351A>C (n.256-1351A>C) c.374A>C (p.Glu125Ala) n.755A>C c.485A>C (p.Glu162Ala) c.695A>C (p.Glu232Ala) | gnomAD v4 |
15 | g.74896188A>G | CA393175835 | MPI | c.707A>G (p.Glu236Gly) c.524A>G (p.Glu175Gly) c.557A>G (p.Glu186Gly) c.*603A>G (n.*603A>G) c.647A>G (p.Glu216Gly) c.256-1351A>G (n.256-1351A>G) c.374A>G (p.Glu125Gly) n.755A>G c.485A>G (p.Glu162Gly) c.695A>G (p.Glu232Gly) | |
15 | g.74896188A>T | CA393175836 | MPI | c.707A>T (p.Glu236Val) c.524A>T (p.Glu175Val) c.557A>T (p.Glu186Val) c.*603A>T (n.*603A>T) c.647A>T (p.Glu216Val) c.256-1351A>T (n.256-1351A>T) c.374A>T (p.Glu125Val) n.755A>T c.485A>T (p.Glu162Val) c.695A>T (p.Glu232Val) | |
15 | g.74896189G>A | CA7662527 | MPI | c.708G>A (p.Glu236=) c.525G>A (p.Glu175=) c.558G>A (p.Glu186=) c.648G>A (p.Glu216=) c.256-1350G>A (n.256-1350G>A) c.375G>A (p.Glu125=) n.756G>A c.486G>A (p.Glu162=) c.696G>A (p.Glu232=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.74896189G>C | CA393175837 | MPI | c.708G>C (p.Glu236Asp) c.525G>C (p.Glu175Asp) c.558G>C (p.Glu186Asp) c.648G>C (p.Glu216Asp) c.256-1350G>C (n.256-1350G>C) c.375G>C (p.Glu125Asp) n.756G>C c.486G>C (p.Glu162Asp) c.696G>C (p.Glu232Asp) | |
15 | g.74896189G= | CA2187901764 | MPI | c.708G= (p.Glu236=) c.525G= (p.Glu175=) c.558G= (p.Glu186=) c.648G= (p.Glu216=) c.256-1350G= (n.256-1350G=) c.375G= (p.Glu125=) n.756G= c.486G= (p.Glu162=) c.696G= (p.Glu232=) | |
15 | g.74896189G>T | CA393175838 | MPI | c.708G>T (p.Glu236Asp) c.525G>T (p.Glu175Asp) c.558G>T (p.Glu186Asp) c.648G>T (p.Glu216Asp) c.256-1350G>T (n.256-1350G>T) c.375G>T (p.Glu125Asp) n.756G>T c.486G>T (p.Glu162Asp) c.696G>T (p.Glu232Asp) | |
15 | g.74896190C>A | CA7662529 | MPI | c.709C>A (p.Leu237Ile) c.526C>A (p.Leu176Ile) c.559C>A (p.Leu187Ile) c.649C>A (p.Leu217Ile) c.256-1349C>A (n.256-1349C>A) c.376C>A (p.Leu126Ile) n.757C>A c.487C>A (p.Leu163Ile) c.697C>A (p.Leu233Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.74896190C= | CA2187901768 | MPI | c.709C= (p.Leu237=) c.526C= (p.Leu176=) c.559C= (p.Leu187=) c.649C= (p.Leu217=) c.256-1349C= (n.256-1349C=) c.376C= (p.Leu126=) n.757C= c.487C= (p.Leu163=) c.697C= (p.Leu233=) | |
15 | g.74896190C>G | CA393175839 | MPI | c.709C>G (p.Leu237Val) c.526C>G (p.Leu176Val) c.559C>G (p.Leu187Val) c.649C>G (p.Leu217Val) c.256-1349C>G (n.256-1349C>G) c.376C>G (p.Leu126Val) n.757C>G c.487C>G (p.Leu163Val) c.697C>G (p.Leu233Val) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.74896190C>T | CA393175840 | MPI | c.709C>T (p.Leu237Phe) c.526C>T (p.Leu176Phe) c.559C>T (p.Leu187Phe) c.649C>T (p.Leu217Phe) c.256-1349C>T (n.256-1349C>T) c.376C>T (p.Leu126Phe) n.757C>T c.487C>T (p.Leu163Phe) c.697C>T (p.Leu233Phe) | |
15 | g.74896190_74896191delinsCT | CA2187901767 | MPI | c.709_710delinsCT (p.Leu237=) c.526_527delinsCT (p.Leu176=) c.559_560delinsCT (p.Leu187=) c.649_650delinsCT (p.Leu217=) c.256-1349_256-1348delinsCT (n.256-1349_256-1348delinsCT) c.376_377delinsCT (p.Leu126=) n.757_758delinsCT c.487_488delinsCT (p.Leu163=) c.697_698delinsCT (p.Leu233=) | |
15 | g.74896191T>A | CA393175842 | MPI | c.710T>A (p.Leu237His) c.527T>A (p.Leu176His) c.560T>A (p.Leu187His) c.650T>A (p.Leu217His) c.256-1348T>A (n.256-1348T>A) c.377T>A (p.Leu126His) n.758T>A c.488T>A (p.Leu163His) c.698T>A (p.Leu233His) | |
15 | g.74896191T>C | CA393175841 | MPI | c.710T>C (p.Leu237Pro) c.527T>C (p.Leu176Pro) c.560T>C (p.Leu187Pro) c.650T>C (p.Leu217Pro) c.256-1348T>C (n.256-1348T>C) c.377T>C (p.Leu126Pro) n.758T>C c.488T>C (p.Leu163Pro) c.698T>C (p.Leu233Pro) | gnomAD v4 |
15 | g.74896191T>G | CA393175843 | MPI | c.710T>G (p.Leu237Arg) c.527T>G (p.Leu176Arg) c.560T>G (p.Leu187Arg) c.650T>G (p.Leu217Arg) c.256-1348T>G (n.256-1348T>G) c.377T>G (p.Leu126Arg) n.758T>G c.488T>G (p.Leu163Arg) c.698T>G (p.Leu233Arg) | |
15 | g.74896194del | CA7662528 | MPI | c.713del (p.Leu238CysfsTer20) c.530del (p.Leu177CysfsTer20) c.563del (p.Leu188CysfsTer20) c.653del (p.Leu218CysfsTer20) c.256-1345del (n.256-1345del) c.380del (p.Leu127CysfsTer20) n.761del c.491del (p.Leu164CysfsTer20) c.701del (p.Leu234CysfsTer20) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.74896192T>A | CA491491380 | MPI | c.711T>A (p.Leu237=) c.528T>A (p.Leu176=) c.561T>A (p.Leu187=) c.651T>A (p.Leu217=) c.256-1347T>A (n.256-1347T>A) c.378T>A (p.Leu126=) n.759T>A c.489T>A (p.Leu163=) c.699T>A (p.Leu233=) | |
15 | g.74896192T>C | CA491491381 | MPI | c.711T>C (p.Leu237=) c.528T>C (p.Leu176=) c.561T>C (p.Leu187=) c.651T>C (p.Leu217=) c.256-1347T>C (n.256-1347T>C) c.378T>C (p.Leu126=) n.759T>C c.489T>C (p.Leu163=) c.699T>C (p.Leu233=) | |
15 | g.74896192T>G | CA491491379 | MPI | c.711T>G (p.Leu237=) c.528T>G (p.Leu176=) c.561T>G (p.Leu187=) c.651T>G (p.Leu217=) c.256-1347T>G (n.256-1347T>G) c.378T>G (p.Leu126=) n.759T>G c.489T>G (p.Leu163=) c.699T>G (p.Leu233=) | |
15 | g.74896193T>A | CA393175845 | MPI | c.712T>A (p.Leu238Met) c.529T>A (p.Leu177Met) c.562T>A (p.Leu188Met) c.652T>A (p.Leu218Met) c.256-1346T>A (n.256-1346T>A) c.379T>A (p.Leu127Met) n.760T>A c.490T>A (p.Leu164Met) c.700T>A (p.Leu234Met) | |
15 | g.74896193T>C | CA491491382 | MPI | c.712T>C (p.Leu238=) c.529T>C (p.Leu177=) c.562T>C (p.Leu188=) c.652T>C (p.Leu218=) c.256-1346T>C (n.256-1346T>C) c.379T>C (p.Leu127=) n.760T>C c.490T>C (p.Leu164=) c.700T>C (p.Leu234=) | gnomAD v3 gnomAD v4 |
15 | g.74896193T>G | CA393175844 | MPI | c.712T>G (p.Leu238Val) c.529T>G (p.Leu177Val) c.562T>G (p.Leu188Val) c.652T>G (p.Leu218Val) c.256-1346T>G (n.256-1346T>G) c.379T>G (p.Leu127Val) n.760T>G c.490T>G (p.Leu164Val) c.700T>G (p.Leu234Val) | |
15 | g.74896194T>A | CA393175846 | MPI | c.713T>A (p.Leu238Ter) c.530T>A (p.Leu177Ter) c.563T>A (p.Leu188Ter) c.653T>A (p.Leu218Ter) c.256-1345T>A (n.256-1345T>A) c.380T>A (p.Leu127Ter) n.761T>A c.491T>A (p.Leu164Ter) c.701T>A (p.Leu234Ter) | |
15 | g.74896194T>C | CA393175847 | MPI | c.713T>C (p.Leu238Ser) c.530T>C (p.Leu177Ser) c.563T>C (p.Leu188Ser) c.653T>C (p.Leu218Ser) c.256-1345T>C (n.256-1345T>C) c.380T>C (p.Leu127Ser) n.761T>C c.491T>C (p.Leu164Ser) c.701T>C (p.Leu234Ser) | |
15 | g.74896194T>G | CA393175848 | MPI | c.713T>G (p.Leu238Trp) c.530T>G (p.Leu177Trp) c.563T>G (p.Leu188Trp) c.653T>G (p.Leu218Trp) c.256-1345T>G (n.256-1345T>G) c.380T>G (p.Leu127Trp) n.761T>G c.491T>G (p.Leu164Trp) c.701T>G (p.Leu234Trp) | ClinVar |
15 | g.74896195G>A | CA491491383 | MPI | c.714G>A (p.Leu238=) c.531G>A (p.Leu177=) c.564G>A (p.Leu188=) c.654G>A (p.Leu218=) c.256-1344G>A (n.256-1344G>A) c.381G>A (p.Leu127=) n.762G>A c.492G>A (p.Leu164=) c.702G>A (p.Leu234=) | |
15 | g.74896195G>C | CA393175849 | MPI | c.714G>C (p.Leu238Phe) c.531G>C (p.Leu177Phe) c.564G>C (p.Leu188Phe) c.654G>C (p.Leu218Phe) c.256-1344G>C (n.256-1344G>C) c.381G>C (p.Leu127Phe) n.762G>C c.492G>C (p.Leu164Phe) c.702G>C (p.Leu234Phe) | gnomAD v4 |
15 | g.74896195G>T | CA393175850 | MPI | c.714G>T (p.Leu238Phe) c.531G>T (p.Leu177Phe) c.564G>T (p.Leu188Phe) c.654G>T (p.Leu218Phe) c.256-1344G>T (n.256-1344G>T) c.381G>T (p.Leu127Phe) n.762G>T c.492G>T (p.Leu164Phe) c.702G>T (p.Leu234Phe) | |
15 | g.74896195_74896196delinsGC | CA2187901775 | MPI | c.714_715delinsGC (p.Leu238=) c.531_532delinsGC (p.Leu177=) c.564_565delinsGC (p.Leu188=) c.654_655delinsGC (p.Leu218=) c.256-1344_256-1343delinsGC (n.256-1344_256-1343delinsGC) c.381_382delinsGC (p.Leu127=) n.762_763delinsGC c.492_493delinsGC (p.Leu164=) c.702_703delinsGC (p.Leu234=) | |
15 | g.74896196del | CA619413141 | MPI | c.715del (p.Leu239TyrfsTer19) c.532del (p.Leu178TyrfsTer19) c.565del (p.Leu189TyrfsTer19) c.655del (p.Leu219TyrfsTer19) c.256-1343del (n.256-1343del) c.382del (p.Leu128TyrfsTer19) n.763del c.493del (p.Leu165TyrfsTer19) c.703del (p.Leu235TyrfsTer19) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.74896196C>A | CA393175852 | MPI | c.715C>A (p.Leu239Ile) c.532C>A (p.Leu178Ile) c.565C>A (p.Leu189Ile) c.655C>A (p.Leu219Ile) c.256-1343C>A (n.256-1343C>A) c.382C>A (p.Leu128Ile) n.763C>A c.493C>A (p.Leu165Ile) c.703C>A (p.Leu235Ile) | |
15 | g.74896196C>G | CA393175851 | MPI | c.715C>G (p.Leu239Val) c.532C>G (p.Leu178Val) c.565C>G (p.Leu189Val) c.655C>G (p.Leu219Val) c.256-1343C>G (n.256-1343C>G) c.382C>G (p.Leu128Val) n.763C>G c.493C>G (p.Leu165Val) c.703C>G (p.Leu235Val) | |
15 | g.74896196C>T | CA491491384 | MPI | c.715C>T (p.Leu239=) c.532C>T (p.Leu178=) c.565C>T (p.Leu189=) c.655C>T (p.Leu219=) c.256-1343C>T (n.256-1343C>T) c.382C>T (p.Leu128=) n.763C>T c.493C>T (p.Leu165=) c.703C>T (p.Leu235=) | |
15 | g.74896197T>A | CA393175853 | MPI | c.716T>A (p.Leu239Gln) c.533T>A (p.Leu178Gln) c.566T>A (p.Leu189Gln) c.656T>A (p.Leu219Gln) c.256-1342T>A (n.256-1342T>A) c.383T>A (p.Leu128Gln) n.764T>A c.494T>A (p.Leu165Gln) c.704T>A (p.Leu235Gln) | |
15 | g.74896197T>C | CA393175854 | MPI | c.716T>C (p.Leu239Pro) c.533T>C (p.Leu178Pro) c.566T>C (p.Leu189Pro) c.656T>C (p.Leu219Pro) c.256-1342T>C (n.256-1342T>C) c.383T>C (p.Leu128Pro) n.764T>C c.494T>C (p.Leu165Pro) c.704T>C (p.Leu235Pro) | |
15 | g.74896197T>G | CA393175855 | MPI | c.716T>G (p.Leu239Arg) c.533T>G (p.Leu178Arg) c.566T>G (p.Leu189Arg) c.656T>G (p.Leu219Arg) c.256-1342T>G (n.256-1342T>G) c.383T>G (p.Leu128Arg) n.764T>G c.494T>G (p.Leu165Arg) c.704T>G (p.Leu235Arg) | |
15 | g.74896198A>C | CA491491385 | MPI | c.717A>C (p.Leu239=) c.534A>C (p.Leu178=) c.567A>C (p.Leu189=) c.657A>C (p.Leu219=) c.256-1341A>C (n.256-1341A>C) c.384A>C (p.Leu128=) n.765A>C c.495A>C (p.Leu165=) c.705A>C (p.Leu235=) | |
15 | g.74896198A>G | CA491491387 | MPI | c.717A>G (p.Leu239=) c.534A>G (p.Leu178=) c.567A>G (p.Leu189=) c.657A>G (p.Leu219=) c.256-1341A>G (n.256-1341A>G) c.384A>G (p.Leu128=) n.765A>G c.495A>G (p.Leu165=) c.705A>G (p.Leu235=) | gnomAD v4 |
15 | g.74896198A>T | CA491491386 | MPI | c.717A>T (p.Leu239=) c.534A>T (p.Leu178=) c.567A>T (p.Leu189=) c.657A>T (p.Leu219=) c.256-1341A>T (n.256-1341A>T) c.384A>T (p.Leu128=) n.765A>T c.495A>T (p.Leu165=) c.705A>T (p.Leu235=) | |
15 | g.74896199C>A | CA393175856 | MPI | c.718C>A (p.Gln240Lys) c.535C>A (p.Gln179Lys) c.568C>A (p.Gln190Lys) c.658C>A (p.Gln220Lys) c.256-1340C>A (n.256-1340C>A) c.385C>A (p.Gln129Lys) n.766C>A c.496C>A (p.Gln166Lys) c.706C>A (p.Gln236Lys) | |
15 | g.74896199C= | CA2187901780 | MPI | c.718C= (p.Gln240=) c.535C= (p.Gln179=) c.568C= (p.Gln190=) c.658C= (p.Gln220=) c.256-1340C= (n.256-1340C=) c.385C= (p.Gln129=) n.766C= c.496C= (p.Gln166=) c.706C= (p.Gln236=) | |
15 | g.74896199C>G | CA393175857 | MPI | c.718C>G (p.Gln240Glu) c.535C>G (p.Gln179Glu) c.568C>G (p.Gln190Glu) c.658C>G (p.Gln220Glu) c.256-1340C>G (n.256-1340C>G) c.385C>G (p.Gln129Glu) n.766C>G c.496C>G (p.Gln166Glu) c.706C>G (p.Gln236Glu) | |
15 | g.74896199C>T | CA272825442 | MPI | c.718C>T (p.Gln240Ter) c.535C>T (p.Gln179Ter) c.568C>T (p.Gln190Ter) c.658C>T (p.Gln220Ter) c.256-1340C>T (n.256-1340C>T) c.385C>T (p.Gln129Ter) n.766C>T c.496C>T (p.Gln166Ter) c.706C>T (p.Gln236Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.74896200A>C | CA393175858 | MPI | c.719A>C (p.Gln240Pro) c.536A>C (p.Gln179Pro) c.569A>C (p.Gln190Pro) c.659A>C (p.Gln220Pro) c.256-1339A>C (n.256-1339A>C) c.386A>C (p.Gln129Pro) n.767A>C c.497A>C (p.Gln166Pro) c.707A>C (p.Gln236Pro) | |
15 | g.74896200A>G | CA393175860 | MPI | c.719A>G (p.Gln240Arg) c.536A>G (p.Gln179Arg) c.569A>G (p.Gln190Arg) c.659A>G (p.Gln220Arg) c.256-1339A>G (n.256-1339A>G) c.386A>G (p.Gln129Arg) n.767A>G c.497A>G (p.Gln166Arg) c.707A>G (p.Gln236Arg) | |
15 | g.74896200A>T | CA393175859 | MPI | c.719A>T (p.Gln240Leu) c.536A>T (p.Gln179Leu) c.569A>T (p.Gln190Leu) c.659A>T (p.Gln220Leu) c.256-1339A>T (n.256-1339A>T) c.386A>T (p.Gln129Leu) n.767A>T c.497A>T (p.Gln166Leu) c.707A>T (p.Gln236Leu) | |
15 | g.74896201G>A | CA491491388 | MPI | c.720G>A (p.Gln240=) c.537G>A (p.Gln179=) c.570G>A (p.Gln190=) c.660G>A (p.Gln220=) c.256-1338G>A (n.256-1338G>A) c.387G>A (p.Gln129=) n.768G>A c.498G>A (p.Gln166=) c.708G>A (p.Gln236=) | |
15 | g.74896201G>C | CA393175861 | MPI | c.720G>C (p.Gln240His) c.537G>C (p.Gln179His) c.570G>C (p.Gln190His) c.660G>C (p.Gln220His) c.256-1338G>C (n.256-1338G>C) c.387G>C (p.Gln129His) n.768G>C c.498G>C (p.Gln166His) c.708G>C (p.Gln236His) | gnomAD v4 |
15 | g.74896201G>T | CA393175862 | MPI | c.720G>T (p.Gln240His) c.537G>T (p.Gln179His) c.570G>T (p.Gln190His) c.660G>T (p.Gln220His) c.256-1338G>T (n.256-1338G>T) c.387G>T (p.Gln129His) n.768G>T c.498G>T (p.Gln166His) c.708G>T (p.Gln236His) | |
15 | g.74896202C>A | CA393175863 | MPI | c.721C>A (p.Leu241Met) c.538C>A (p.Leu180Met) c.571C>A (p.Leu191Met) c.661C>A (p.Leu221Met) c.256-1337C>A (n.256-1337C>A) c.388C>A (p.Leu130Met) n.769C>A c.499C>A (p.Leu167Met) c.709C>A (p.Leu237Met) | |
15 | g.74896202C>G | CA393175864 | MPI | c.721C>G (p.Leu241Val) c.538C>G (p.Leu180Val) c.571C>G (p.Leu191Val) c.661C>G (p.Leu221Val) c.256-1337C>G (n.256-1337C>G) c.388C>G (p.Leu130Val) n.769C>G c.499C>G (p.Leu167Val) c.709C>G (p.Leu237Val) | gnomAD v4 |
15 | g.74896202C>T | CA491491389 | MPI | c.721C>T (p.Leu241=) c.538C>T (p.Leu180=) c.571C>T (p.Leu191=) c.661C>T (p.Leu221=) c.256-1337C>T (n.256-1337C>T) c.388C>T (p.Leu130=) n.769C>T c.499C>T (p.Leu167=) c.709C>T (p.Leu237=) | |
15 | g.74896203T>A | CA393175865 | MPI | c.722T>A (p.Leu241Gln) c.539T>A (p.Leu180Gln) c.572T>A (p.Leu191Gln) c.662T>A (p.Leu221Gln) c.256-1336T>A (n.256-1336T>A) c.389T>A (p.Leu130Gln) n.770T>A c.500T>A (p.Leu167Gln) c.710T>A (p.Leu237Gln) | |
15 | g.74896203T>C | CA393175866 | MPI | c.722T>C (p.Leu241Pro) c.539T>C (p.Leu180Pro) c.572T>C (p.Leu191Pro) c.662T>C (p.Leu221Pro) c.256-1336T>C (n.256-1336T>C) c.389T>C (p.Leu130Pro) n.770T>C c.500T>C (p.Leu167Pro) c.710T>C (p.Leu237Pro) | |
15 | g.74896203T>G | CA393175867 | MPI | c.722T>G (p.Leu241Arg) c.539T>G (p.Leu180Arg) c.572T>G (p.Leu191Arg) c.662T>G (p.Leu221Arg) c.256-1336T>G (n.256-1336T>G) c.389T>G (p.Leu130Arg) n.770T>G c.500T>G (p.Leu167Arg) c.710T>G (p.Leu237Arg) | |
15 | g.74896204G>A | CA272825445 | MPI | c.723G>A (p.Leu241=) c.540G>A (p.Leu180=) c.573G>A (p.Leu191=) c.663G>A (p.Leu221=) c.256-1335G>A (n.256-1335G>A) c.390G>A (p.Leu130=) n.771G>A c.501G>A (p.Leu167=) c.711G>A (p.Leu237=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
15 | g.74896204G>C | CA491491390 | MPI | c.723G>C (p.Leu241=) c.540G>C (p.Leu180=) c.573G>C (p.Leu191=) c.663G>C (p.Leu221=) c.256-1335G>C (n.256-1335G>C) c.390G>C (p.Leu130=) n.771G>C c.501G>C (p.Leu167=) c.711G>C (p.Leu237=) | |
15 | g.74896204G= | CA2187901782 | MPI | c.723G= (p.Leu241=) c.540G= (p.Leu180=) c.573G= (p.Leu191=) c.663G= (p.Leu221=) c.256-1335G= (n.256-1335G=) c.390G= (p.Leu130=) n.771G= c.501G= (p.Leu167=) c.711G= (p.Leu237=) | |
15 | g.74896204G>T | CA491491391 | MPI | c.723G>T (p.Leu241=) c.540G>T (p.Leu180=) c.573G>T (p.Leu191=) c.663G>T (p.Leu221=) c.256-1335G>T (n.256-1335G>T) c.390G>T (p.Leu130=) n.771G>T c.501G>T (p.Leu167=) c.711G>T (p.Leu237=) | |
15 | g.74896205C>A | CA393175868 | MPI | c.724C>A (p.His242Asn) c.541C>A (p.His181Asn) c.574C>A (p.His192Asn) c.664C>A (p.His222Asn) c.256-1334C>A (n.256-1334C>A) c.391C>A (p.His131Asn) n.772C>A c.502C>A (p.His168Asn) c.712C>A (p.His238Asn) | |
15 | g.74896205C>G | CA393175869 | MPI | c.724C>G (p.His242Asp) c.541C>G (p.His181Asp) c.574C>G (p.His192Asp) c.664C>G (p.His222Asp) c.256-1334C>G (n.256-1334C>G) c.391C>G (p.His131Asp) n.772C>G c.502C>G (p.His168Asp) c.712C>G (p.His238Asp) | |
15 | g.74896205C>T | CA393175870 | MPI | c.724C>T (p.His242Tyr) c.541C>T (p.His181Tyr) c.574C>T (p.His192Tyr) c.664C>T (p.His222Tyr) c.256-1334C>T (n.256-1334C>T) c.391C>T (p.His131Tyr) n.772C>T c.502C>T (p.His168Tyr) c.712C>T (p.His238Tyr) | |
15 | g.74896206A>C | CA393175873 | MPI | c.725A>C (p.His242Pro) c.542A>C (p.His181Pro) c.575A>C (p.His192Pro) c.665A>C (p.His222Pro) c.256-1333A>C (n.256-1333A>C) c.392A>C (p.His131Pro) n.773A>C c.503A>C (p.His168Pro) c.713A>C (p.His238Pro) | |
15 | g.74896206A>G | CA393175872 | MPI | c.725A>G (p.His242Arg) c.542A>G (p.His181Arg) c.575A>G (p.His192Arg) c.665A>G (p.His222Arg) c.256-1333A>G (n.256-1333A>G) c.392A>G (p.His131Arg) n.773A>G c.503A>G (p.His168Arg) c.713A>G (p.His238Arg) | |
15 | g.74896206A>T | CA393175871 | MPI | c.725A>T (p.His242Leu) c.542A>T (p.His181Leu) c.575A>T (p.His192Leu) c.665A>T (p.His222Leu) c.256-1333A>T (n.256-1333A>T) c.392A>T (p.His131Leu) n.773A>T c.503A>T (p.His168Leu) c.713A>T (p.His238Leu) | |
15 | g.74896207C>A | CA393175874 | MPI | c.726C>A (p.His242Gln) c.543C>A (p.His181Gln) c.576C>A (p.His192Gln) c.666C>A (p.His222Gln) c.256-1332C>A (n.256-1332C>A) c.393C>A (p.His131Gln) n.774C>A c.504C>A (p.His168Gln) c.714C>A (p.His238Gln) | |
15 | g.74896207C>G | CA393175875 | MPI | c.726C>G (p.His242Gln) c.543C>G (p.His181Gln) c.576C>G (p.His192Gln) c.666C>G (p.His222Gln) c.256-1332C>G (n.256-1332C>G) c.393C>G (p.His131Gln) n.774C>G c.504C>G (p.His168Gln) c.714C>G (p.His238Gln) | |
15 | g.74896207C>T | CA491491392 | MPI | c.726C>T (p.His242=) c.543C>T (p.His181=) c.576C>T (p.His192=) c.666C>T (p.His222=) c.256-1332C>T (n.256-1332C>T) c.393C>T (p.His131=) n.774C>T c.504C>T (p.His168=) c.714C>T (p.His238=) | |
15 | g.74896208C>A | CA393175876 | MPI | c.727C>A (p.Gln243Lys) c.544C>A (p.Gln182Lys) c.577C>A (p.Gln193Lys) c.667C>A (p.Gln223Lys) c.256-1331C>A (n.256-1331C>A) c.394C>A (p.Gln132Lys) n.775C>A c.505C>A (p.Gln169Lys) c.715C>A (p.Gln239Lys) | |
15 | g.74896208C= | CA2187901787 | MPI | c.727C= (p.Gln243=) c.544C= (p.Gln182=) c.577C= (p.Gln193=) c.667C= (p.Gln223=) c.256-1331C= (n.256-1331C=) c.394C= (p.Gln132=) n.775C= c.505C= (p.Gln169=) c.715C= (p.Gln239=) | |
15 | g.74896208C>G | CA393175877 | MPI | c.727C>G (p.Gln243Glu) c.544C>G (p.Gln182Glu) c.577C>G (p.Gln193Glu) c.667C>G (p.Gln223Glu) c.256-1331C>G (n.256-1331C>G) c.394C>G (p.Gln132Glu) n.775C>G c.505C>G (p.Gln169Glu) c.715C>G (p.Gln239Glu) | |
15 | g.74896208C>T | CA7662530 | MPI | c.727C>T (p.Gln243Ter) c.544C>T (p.Gln182Ter) c.577C>T (p.Gln193Ter) c.667C>T (p.Gln223Ter) c.256-1331C>T (n.256-1331C>T) c.394C>T (p.Gln132Ter) n.775C>T c.505C>T (p.Gln169Ter) c.715C>T (p.Gln239Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.74896209A>C | CA393175878 | MPI | c.728A>C (p.Gln243Pro) c.545A>C (p.Gln182Pro) c.578A>C (p.Gln193Pro) c.668A>C (p.Gln223Pro) c.256-1330A>C (n.256-1330A>C) c.395A>C (p.Gln132Pro) n.776A>C c.506A>C (p.Gln169Pro) c.716A>C (p.Gln239Pro) | |
15 | g.74896209A>G | CA393175879 | MPI | c.728A>G (p.Gln243Arg) c.545A>G (p.Gln182Arg) c.578A>G (p.Gln193Arg) c.668A>G (p.Gln223Arg) c.256-1330A>G (n.256-1330A>G) c.395A>G (p.Gln132Arg) n.776A>G c.506A>G (p.Gln169Arg) c.716A>G (p.Gln239Arg) | |
15 | g.74896209A>T | CA393175880 | MPI | c.728A>T (p.Gln243Leu) c.545A>T (p.Gln182Leu) c.578A>T (p.Gln193Leu) c.668A>T (p.Gln223Leu) c.256-1330A>T (n.256-1330A>T) c.395A>T (p.Gln132Leu) n.776A>T c.506A>T (p.Gln169Leu) c.716A>T (p.Gln239Leu) | gnomAD v4 |
15 | g.74896210G>A | CA491491393 | MPI | c.729G>A (p.Gln243=) c.546G>A (p.Gln182=) c.579G>A (p.Gln193=) c.669G>A (p.Gln223=) c.256-1329G>A (n.256-1329G>A) c.396G>A (p.Gln132=) n.777G>A c.507G>A (p.Gln169=) c.717G>A (p.Gln239=) | |
15 | g.74896210G>C | CA393175881 | MPI | c.729G>C (p.Gln243His) c.546G>C (p.Gln182His) c.579G>C (p.Gln193His) c.669G>C (p.Gln223His) c.256-1329G>C (n.256-1329G>C) c.396G>C (p.Gln132His) n.777G>C c.507G>C (p.Gln169His) c.717G>C (p.Gln239His) | dbSNP |
15 | g.74896210G= | CA2187901791 | MPI | c.729G= (p.Gln243=) c.546G= (p.Gln182=) c.579G= (p.Gln193=) c.669G= (p.Gln223=) c.256-1329G= (n.256-1329G=) c.396G= (p.Gln132=) n.777G= c.507G= (p.Gln169=) c.717G= (p.Gln239=) | |
15 | g.74896210G>T | CA393175882 | MPI | c.729G>T (p.Gln243His) c.546G>T (p.Gln182His) c.579G>T (p.Gln193His) c.669G>T (p.Gln223His) c.256-1329G>T (n.256-1329G>T) c.396G>T (p.Gln132His) n.777G>T c.507G>T (p.Gln169His) c.717G>T (p.Gln239His) | |
15 | g.74896211C>A | CA393175883 | MPI | c.730C>A (p.Gln244Lys) c.547C>A (p.Gln183Lys) c.580C>A (p.Gln194Lys) c.670C>A (p.Gln224Lys) c.256-1328C>A (n.256-1328C>A) c.397C>A (p.Gln133Lys) n.778C>A c.508C>A (p.Gln170Lys) c.718C>A (p.Gln240Lys) | |
15 | g.74896211C>G | CA393175884 | MPI | c.730C>G (p.Gln244Glu) c.547C>G (p.Gln183Glu) c.580C>G (p.Gln194Glu) c.670C>G (p.Gln224Glu) c.256-1328C>G (n.256-1328C>G) c.397C>G (p.Gln133Glu) n.778C>G c.508C>G (p.Gln170Glu) c.718C>G (p.Gln240Glu) | |
15 | g.74896211C>T | CA393175885 | MPI | c.730C>T (p.Gln244Ter) c.547C>T (p.Gln183Ter) c.580C>T (p.Gln194Ter) c.670C>T (p.Gln224Ter) c.256-1328C>T (n.256-1328C>T) c.397C>T (p.Gln133Ter) n.778C>T c.508C>T (p.Gln170Ter) c.718C>T (p.Gln240Ter) | |
15 | g.74896212A>C | CA393175888 | MPI | c.731A>C (p.Gln244Pro) c.548A>C (p.Gln183Pro) c.581A>C (p.Gln194Pro) c.671A>C (p.Gln224Pro) c.256-1327A>C (n.256-1327A>C) c.398A>C (p.Gln133Pro) n.779A>C c.509A>C (p.Gln170Pro) c.719A>C (p.Gln240Pro) | |
15 | g.74896212A>G | CA393175886 | MPI | c.731A>G (p.Gln244Arg) c.548A>G (p.Gln183Arg) c.581A>G (p.Gln194Arg) c.671A>G (p.Gln224Arg) c.256-1327A>G (n.256-1327A>G) c.398A>G (p.Gln133Arg) n.779A>G c.509A>G (p.Gln170Arg) c.719A>G (p.Gln240Arg) | |
15 | g.74896212A>T | CA393175887 | MPI | c.731A>T (p.Gln244Leu) c.548A>T (p.Gln183Leu) c.581A>T (p.Gln194Leu) c.671A>T (p.Gln224Leu) c.256-1327A>T (n.256-1327A>T) c.398A>T (p.Gln133Leu) n.779A>T c.509A>T (p.Gln170Leu) c.719A>T (p.Gln240Leu) | |
15 | g.74896213G>A | CA7662531 | MPI | c.732G>A (p.Gln244=) c.549G>A (p.Gln183=) c.582G>A (p.Gln194=) c.672G>A (p.Gln224=) c.256-1326G>A (n.256-1326G>A) c.399G>A (p.Gln133=) n.780G>A c.510G>A (p.Gln170=) c.720G>A (p.Gln240=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.74896213G>C | CA393175889 | MPI | c.732G>C (p.Gln244His) c.549G>C (p.Gln183His) c.582G>C (p.Gln194His) c.672G>C (p.Gln224His) c.256-1326G>C (n.256-1326G>C) c.399G>C (p.Gln133His) n.780G>C c.510G>C (p.Gln170His) c.720G>C (p.Gln240His) | |
15 | g.74896213G= | CA2187901795 | MPI | c.732G= (p.Gln244=) c.549G= (p.Gln183=) c.582G= (p.Gln194=) c.672G= (p.Gln224=) c.256-1326G= (n.256-1326G=) c.399G= (p.Gln133=) n.780G= c.510G= (p.Gln170=) c.720G= (p.Gln240=) | |
15 | g.74896213G>T | CA393175890 | MPI | c.732G>T (p.Gln244His) c.549G>T (p.Gln183His) c.582G>T (p.Gln194His) c.672G>T (p.Gln224His) c.256-1326G>T (n.256-1326G>T) c.399G>T (p.Gln133His) n.780G>T c.510G>T (p.Gln170His) c.720G>T (p.Gln240His) | |
15 | g.74896214T>A | CA393175891 | MPI | c.733T>A (p.Tyr245Asn) c.550T>A (p.Tyr184Asn) c.583T>A (p.Tyr195Asn) c.673T>A (p.Tyr225Asn) c.256-1325T>A (n.256-1325T>A) c.400T>A (p.Tyr134Asn) n.781T>A c.511T>A (p.Tyr171Asn) c.721T>A (p.Tyr241Asn) | gnomAD v4 |
15 | g.74896214T>C | CA393175892 | MPI | c.733T>C (p.Tyr245His) c.550T>C (p.Tyr184His) c.583T>C (p.Tyr195His) c.673T>C (p.Tyr225His) c.256-1325T>C (n.256-1325T>C) c.400T>C (p.Tyr134His) n.781T>C c.511T>C (p.Tyr171His) c.721T>C (p.Tyr241His) | |
15 | g.74896214T>G | CA393175893 | MPI | c.733T>G (p.Tyr245Asp) c.550T>G (p.Tyr184Asp) c.583T>G (p.Tyr195Asp) c.673T>G (p.Tyr225Asp) c.256-1325T>G (n.256-1325T>G) c.400T>G (p.Tyr134Asp) n.781T>G c.511T>G (p.Tyr171Asp) c.721T>G (p.Tyr241Asp) | |
15 | g.74896215A>C | CA393175894 | MPI | c.734A>C (p.Tyr245Ser) c.551A>C (p.Tyr184Ser) c.584A>C (p.Tyr195Ser) c.674A>C (p.Tyr225Ser) c.256-1324A>C (n.256-1324A>C) c.401A>C (p.Tyr134Ser) n.782A>C c.512A>C (p.Tyr171Ser) c.722A>C (p.Tyr241Ser) | |
15 | g.74896215A>G | CA393175895 | MPI | c.734A>G (p.Tyr245Cys) c.551A>G (p.Tyr184Cys) c.584A>G (p.Tyr195Cys) c.674A>G (p.Tyr225Cys) c.256-1324A>G (n.256-1324A>G) c.401A>G (p.Tyr134Cys) n.782A>G c.512A>G (p.Tyr171Cys) c.722A>G (p.Tyr241Cys) | |
15 | g.74896215A>T | CA393175896 | MPI | c.734A>T (p.Tyr245Phe) c.551A>T (p.Tyr184Phe) c.584A>T (p.Tyr195Phe) c.674A>T (p.Tyr225Phe) c.256-1324A>T (n.256-1324A>T) c.401A>T (p.Tyr134Phe) n.782A>T c.512A>T (p.Tyr171Phe) c.722A>T (p.Tyr241Phe) | |
15 | g.74896216C>A | CA393175897 | MPI | c.735C>A (p.Tyr245Ter) c.552C>A (p.Tyr184Ter) c.585C>A (p.Tyr195Ter) c.675C>A (p.Tyr225Ter) c.256-1323C>A (n.256-1323C>A) c.402C>A (p.Tyr134Ter) n.783C>A c.513C>A (p.Tyr171Ter) c.723C>A (p.Tyr241Ter) | |
15 | g.74896216C>G | CA393175898 | MPI | c.735C>G (p.Tyr245Ter) c.552C>G (p.Tyr184Ter) c.585C>G (p.Tyr195Ter) c.675C>G (p.Tyr225Ter) c.256-1323C>G (n.256-1323C>G) c.402C>G (p.Tyr134Ter) n.783C>G c.513C>G (p.Tyr171Ter) c.723C>G (p.Tyr241Ter) | |
15 | g.74896216C>T | CA491491394 | MPI | c.735C>T (p.Tyr245=) c.552C>T (p.Tyr184=) c.585C>T (p.Tyr195=) c.675C>T (p.Tyr225=) c.256-1323C>T (n.256-1323C>T) c.402C>T (p.Tyr134=) n.783C>T c.513C>T (p.Tyr171=) c.723C>T (p.Tyr241=) | |
15 | g.74896216_74896221del | CA2629530533 | MPI | c.735_740del (p.Pro246_Gly247del) c.552_557del (p.Pro185_Gly186del) c.585_590del (p.Pro196_Gly197del) c.675_680del (p.Pro226_Gly227del) c.256-1323_256-1318del (n.256-1323_256-1318del) c.402_407del (p.Pro135_Gly136del) n.783_788del c.513_518del (p.Pro172_Gly173del) c.723_728del (p.Pro242_Gly243del) | gnomAD v4 |
15 | g.74896217C>A | CA393175901 | MPI | c.736C>A (p.Pro246Thr) c.553C>A (p.Pro185Thr) c.586C>A (p.Pro196Thr) c.676C>A (p.Pro226Thr) c.256-1322C>A (n.256-1322C>A) c.403C>A (p.Pro135Thr) n.784C>A c.514C>A (p.Pro172Thr) c.724C>A (p.Pro242Thr) | |
15 | g.74896217C>G | CA393175900 | MPI | c.736C>G (p.Pro246Ala) c.553C>G (p.Pro185Ala) c.586C>G (p.Pro196Ala) c.676C>G (p.Pro226Ala) c.256-1322C>G (n.256-1322C>G) c.403C>G (p.Pro135Ala) n.784C>G c.514C>G (p.Pro172Ala) c.724C>G (p.Pro242Ala) | |
15 | g.74896217C>T | CA393175899 | MPI | c.736C>T (p.Pro246Ser) c.553C>T (p.Pro185Ser) c.586C>T (p.Pro196Ser) c.676C>T (p.Pro226Ser) c.256-1322C>T (n.256-1322C>T) c.403C>T (p.Pro135Ser) n.784C>T c.514C>T (p.Pro172Ser) c.724C>T (p.Pro242Ser) | |
15 | g.74896218C>A | CA393175902 | MPI | c.737C>A (p.Pro246Gln) c.554C>A (p.Pro185Gln) c.587C>A (p.Pro196Gln) c.677C>A (p.Pro226Gln) c.256-1321C>A (n.256-1321C>A) c.404C>A (p.Pro135Gln) n.785C>A c.515C>A (p.Pro172Gln) c.725C>A (p.Pro242Gln) | |
15 | g.74896218C= | CA2187901800 | MPI | c.737C= (p.Pro246=) c.554C= (p.Pro185=) c.587C= (p.Pro196=) c.677C= (p.Pro226=) c.256-1321C= (n.256-1321C=) c.404C= (p.Pro135=) n.785C= c.515C= (p.Pro172=) c.725C= (p.Pro242=) | |
15 | g.74896218C>G | CA393175904 | MPI | c.737C>G (p.Pro246Arg) c.554C>G (p.Pro185Arg) c.587C>G (p.Pro196Arg) c.677C>G (p.Pro226Arg) c.256-1321C>G (n.256-1321C>G) c.404C>G (p.Pro135Arg) n.785C>G c.515C>G (p.Pro172Arg) c.725C>G (p.Pro242Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.74896218C>T | CA393175903 | MPI | c.737C>T (p.Pro246Leu) c.554C>T (p.Pro185Leu) c.587C>T (p.Pro196Leu) c.677C>T (p.Pro226Leu) c.256-1321C>T (n.256-1321C>T) c.404C>T (p.Pro135Leu) n.785C>T c.515C>T (p.Pro172Leu) c.725C>T (p.Pro242Leu) | |
15 | g.74896219A>C | CA491491395 | MPI | c.738A>C (p.Pro246=) c.555A>C (p.Pro185=) c.588A>C (p.Pro196=) c.678A>C (p.Pro226=) c.256-1320A>C (n.256-1320A>C) c.405A>C (p.Pro135=) n.786A>C c.516A>C (p.Pro172=) c.726A>C (p.Pro242=) | |
15 | g.74896219A>G | CA491491396 | MPI | c.738A>G (p.Pro246=) c.555A>G (p.Pro185=) c.588A>G (p.Pro196=) c.678A>G (p.Pro226=) c.256-1320A>G (n.256-1320A>G) c.405A>G (p.Pro135=) n.786A>G c.516A>G (p.Pro172=) c.726A>G (p.Pro242=) | |
15 | g.74896219A>T | CA491491397 | MPI | c.738A>T (p.Pro246=) c.555A>T (p.Pro185=) c.588A>T (p.Pro196=) c.678A>T (p.Pro226=) c.256-1320A>T (n.256-1320A>T) c.405A>T (p.Pro135=) n.786A>T c.516A>T (p.Pro172=) c.726A>T (p.Pro242=) | |
15 | g.74896219_74896220delinsAG | CA2187901802 | MPI | c.738_739delinsAG (p.Pro246=) c.555_556delinsAG (p.Pro185=) c.588_589delinsAG (p.Pro196=) c.678_679delinsAG (p.Pro226=) c.256-1320_256-1319delinsAG (n.256-1320_256-1319delinsAG) c.405_406delinsAG (p.Pro135=) n.786_787delinsAG c.516_517delinsAG (p.Pro172=) c.726_727delinsAG (p.Pro242=) | |
15 | g.74896220G>A | CA7662532 | MPI | c.739G>A (p.Gly247Ser) c.556G>A (p.Gly186Ser) c.589G>A (p.Gly197Ser) c.679G>A (p.Gly227Ser) c.256-1319G>A (n.256-1319G>A) c.406G>A (p.Gly136Ser) n.787G>A c.517G>A (p.Gly173Ser) c.727G>A (p.Gly243Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.74896220G>C | CA393175905 | MPI | c.739G>C (p.Gly247Arg) c.556G>C (p.Gly186Arg) c.589G>C (p.Gly197Arg) c.679G>C (p.Gly227Arg) c.256-1319G>C (n.256-1319G>C) c.406G>C (p.Gly136Arg) n.787G>C c.517G>C (p.Gly173Arg) c.727G>C (p.Gly243Arg) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.74896220G= | CA2187901806 | MPI | c.739G= (p.Gly247=) c.556G= (p.Gly186=) c.589G= (p.Gly197=) c.679G= (p.Gly227=) c.256-1319G= (n.256-1319G=) c.406G= (p.Gly136=) n.787G= c.517G= (p.Gly173=) c.727G= (p.Gly243=) | |
15 | g.74896220G>T | CA393175906 | MPI | c.739G>T (p.Gly247Cys) c.556G>T (p.Gly186Cys) c.589G>T (p.Gly197Cys) c.679G>T (p.Gly227Cys) c.256-1319G>T (n.256-1319G>T) c.406G>T (p.Gly136Cys) n.787G>T c.517G>T (p.Gly173Cys) c.727G>T (p.Gly243Cys) | |
15 | g.74896221del | CA16041750 | MPI | c.740del (p.Gly247ValfsTer11) c.557del (p.Gly186ValfsTer11) c.590del (p.Gly197ValfsTer11) c.680del (p.Gly227ValfsTer11) c.256-1318del (n.256-1318del) c.407del (p.Gly136ValfsTer11) n.788del c.518del (p.Gly173ValfsTer11) c.728del (p.Gly243ValfsTer11) | ClinVar dbSNP |
15 | g.74896221G>A | CA393175907 | MPI | c.740G>A (p.Gly247Asp) c.557G>A (p.Gly186Asp) c.590G>A (p.Gly197Asp) c.680G>A (p.Gly227Asp) c.256-1318G>A (n.256-1318G>A) c.407G>A (p.Gly136Asp) n.788G>A c.518G>A (p.Gly173Asp) c.728G>A (p.Gly243Asp) | gnomAD v4 |
15 | g.74896221G>C | CA393175908 | MPI | c.740G>C (p.Gly247Ala) c.557G>C (p.Gly186Ala) c.590G>C (p.Gly197Ala) c.680G>C (p.Gly227Ala) c.256-1318G>C (n.256-1318G>C) c.407G>C (p.Gly136Ala) n.788G>C c.518G>C (p.Gly173Ala) c.728G>C (p.Gly243Ala) | |
15 | g.74896221G>T | CA393175909 | MPI | c.740G>T (p.Gly247Val) c.557G>T (p.Gly186Val) c.590G>T (p.Gly197Val) c.680G>T (p.Gly227Val) c.256-1318G>T (n.256-1318G>T) c.407G>T (p.Gly136Val) n.788G>T c.518G>T (p.Gly173Val) c.728G>T (p.Gly243Val) | |
15 | g.74896222T>A | CA7662533 | MPI | c.741T>A (p.Gly247=) c.558T>A (p.Gly186=) c.591T>A (p.Gly197=) c.681T>A (p.Gly227=) c.256-1317T>A (n.256-1317T>A) c.408T>A (p.Gly136=) n.789T>A c.519T>A (p.Gly173=) c.729T>A (p.Gly243=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.74896222T>C | CA491491398 | MPI | c.741T>C (p.Gly247=) c.558T>C (p.Gly186=) c.591T>C (p.Gly197=) c.681T>C (p.Gly227=) c.256-1317T>C (n.256-1317T>C) c.408T>C (p.Gly136=) n.789T>C c.519T>C (p.Gly173=) c.729T>C (p.Gly243=) | gnomAD v4 |
15 | g.74896222T>G | CA491491399 | MPI | c.741T>G (p.Gly247=) c.558T>G (p.Gly186=) c.591T>G (p.Gly197=) c.681T>G (p.Gly227=) c.256-1317T>G (n.256-1317T>G) c.408T>G (p.Gly136=) n.789T>G c.519T>G (p.Gly173=) c.729T>G (p.Gly243=) | |
15 | g.74896222T= | CA2187901810 | MPI | c.741T= (p.Gly247=) c.558T= (p.Gly186=) c.591T= (p.Gly197=) c.681T= (p.Gly227=) c.256-1317T= (n.256-1317T=) c.408T= (p.Gly136=) n.789T= c.519T= (p.Gly173=) c.729T= (p.Gly243=) | |
15 | g.74896223G>A | CA393175910 | MPI | c.742G>A (p.Asp248Asn) c.559G>A (p.Asp187Asn) c.592G>A (p.Asp198Asn) c.682G>A (p.Asp228Asn) c.256-1316G>A (n.256-1316G>A) c.409G>A (p.Asp137Asn) n.790G>A c.520G>A (p.Asp174Asn) c.730G>A (p.Asp244Asn) | |
15 | g.74896223G>C | CA393175911 | MPI | c.742G>C (p.Asp248His) c.559G>C (p.Asp187His) c.592G>C (p.Asp198His) c.682G>C (p.Asp228His) c.256-1316G>C (n.256-1316G>C) c.409G>C (p.Asp137His) n.790G>C c.520G>C (p.Asp174His) c.730G>C (p.Asp244His) | |
15 | g.74896223G>T | CA393175912 | MPI | c.742G>T (p.Asp248Tyr) c.559G>T (p.Asp187Tyr) c.592G>T (p.Asp198Tyr) c.682G>T (p.Asp228Tyr) c.256-1316G>T (n.256-1316G>T) c.409G>T (p.Asp137Tyr) n.790G>T c.520G>T (p.Asp174Tyr) c.730G>T (p.Asp244Tyr) | |
15 | g.74896224A>C | CA393175913 | MPI | c.743A>C (p.Asp248Ala) c.560A>C (p.Asp187Ala) c.593A>C (p.Asp198Ala) c.683A>C (p.Asp228Ala) c.256-1315A>C (n.256-1315A>C) c.410A>C (p.Asp137Ala) n.791A>C c.521A>C (p.Asp174Ala) c.731A>C (p.Asp244Ala) | |
15 | g.74896224A>G | CA393175914 | MPI | c.743A>G (p.Asp248Gly) c.560A>G (p.Asp187Gly) c.593A>G (p.Asp198Gly) c.683A>G (p.Asp228Gly) c.256-1315A>G (n.256-1315A>G) c.410A>G (p.Asp137Gly) n.791A>G c.521A>G (p.Asp174Gly) c.731A>G (p.Asp244Gly) | gnomAD v4 |
15 | g.74896224A>T | CA393175915 | MPI | c.743A>T (p.Asp248Val) c.560A>T (p.Asp187Val) c.593A>T (p.Asp198Val) c.683A>T (p.Asp228Val) c.256-1315A>T (n.256-1315A>T) c.410A>T (p.Asp137Val) n.791A>T c.521A>T (p.Asp174Val) c.731A>T (p.Asp244Val) | |
15 | g.74896225T>A | CA393175917 | MPI | c.744T>A (p.Asp248Glu) c.561T>A (p.Asp187Glu) c.594T>A (p.Asp198Glu) c.684T>A (p.Asp228Glu) c.256-1314T>A (n.256-1314T>A) c.411T>A (p.Asp137Glu) n.792T>A c.522T>A (p.Asp174Glu) c.732T>A (p.Asp244Glu) | |
15 | g.74896225T>C | CA491491400 | MPI | c.744T>C (p.Asp248=) c.561T>C (p.Asp187=) c.594T>C (p.Asp198=) c.684T>C (p.Asp228=) c.256-1314T>C (n.256-1314T>C) c.411T>C (p.Asp137=) n.792T>C c.522T>C (p.Asp174=) c.732T>C (p.Asp244=) | ClinVar dbSNP gnomAD v4 |
15 | g.74896225T>G | CA393175916 | MPI | c.744T>G (p.Asp248Glu) c.561T>G (p.Asp187Glu) c.594T>G (p.Asp198Glu) c.684T>G (p.Asp228Glu) c.256-1314T>G (n.256-1314T>G) c.411T>G (p.Asp137Glu) n.792T>G c.522T>G (p.Asp174Glu) c.732T>G (p.Asp244Glu) | |
15 | g.74896226A= | CA2187901815 | MPI | c.745A= (p.Ile249=) c.562A= (p.Ile188=) c.595A= (p.Ile199=) c.685A= (p.Ile229=) c.256-1313A= (n.256-1313A=) c.412A= (p.Ile138=) n.793A= c.523A= (p.Ile175=) c.733A= (p.Ile245=) | |
15 | g.74896226A>C | CA393175918 | MPI | c.745A>C (p.Ile249Leu) c.562A>C (p.Ile188Leu) c.595A>C (p.Ile199Leu) c.685A>C (p.Ile229Leu) c.256-1313A>C (n.256-1313A>C) c.412A>C (p.Ile138Leu) n.793A>C c.523A>C (p.Ile175Leu) c.733A>C (p.Ile245Leu) | |
15 | g.74896226A>G | CA393175919 | MPI | c.745A>G (p.Ile249Val) c.562A>G (p.Ile188Val) c.595A>G (p.Ile199Val) c.685A>G (p.Ile229Val) c.256-1313A>G (n.256-1313A>G) c.412A>G (p.Ile138Val) n.793A>G c.523A>G (p.Ile175Val) c.733A>G (p.Ile245Val) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.74896226A>T | CA393175920 | MPI | c.745A>T (p.Ile249Phe) c.562A>T (p.Ile188Phe) c.595A>T (p.Ile199Phe) c.685A>T (p.Ile229Phe) c.256-1313A>T (n.256-1313A>T) c.412A>T (p.Ile138Phe) n.793A>T c.523A>T (p.Ile175Phe) c.733A>T (p.Ile245Phe) | |
15 | g.74896226dup | CA2573151156 | MPI | c.745dup (p.Ile249AsnfsTer?) c.562dup (p.Ile188AsnfsTer?) c.595dup (p.Ile199AsnfsTer?) c.685dup (p.Ile229AsnfsTer?) c.256-1313dup (n.256-1313dup) c.412dup (p.Ile138AsnfsTer?) n.793dup c.523dup (p.Ile175AsnfsTer?) c.733dup (p.Ile245AsnfsTer?) | ClinVar dbSNP |
15 | g.74896227T>A | CA7662534 | MPI | c.746T>A (p.Ile249Asn) c.563T>A (p.Ile188Asn) c.596T>A (p.Ile199Asn) c.686T>A (p.Ile229Asn) c.256-1312T>A (n.256-1312T>A) c.413T>A (p.Ile138Asn) n.794T>A c.524T>A (p.Ile175Asn) c.734T>A (p.Ile245Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.74896227T>C | CA393175921 | MPI | c.746T>C (p.Ile249Thr) c.563T>C (p.Ile188Thr) c.596T>C (p.Ile199Thr) c.686T>C (p.Ile229Thr) c.256-1312T>C (n.256-1312T>C) c.413T>C (p.Ile138Thr) n.794T>C c.524T>C (p.Ile175Thr) c.734T>C (p.Ile245Thr) | ClinVar dbSNP gnomAD v4 |
15 | g.74896227T>G | CA393175922 | MPI | c.746T>G (p.Ile249Ser) c.563T>G (p.Ile188Ser) c.596T>G (p.Ile199Ser) c.686T>G (p.Ile229Ser) c.256-1312T>G (n.256-1312T>G) c.413T>G (p.Ile138Ser) n.794T>G c.524T>G (p.Ile175Ser) c.734T>G (p.Ile245Ser) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.74896227T= | CA2187901818 | MPI | c.746T= (p.Ile249=) c.563T= (p.Ile188=) c.596T= (p.Ile199=) c.686T= (p.Ile229=) c.256-1312T= (n.256-1312T=) c.413T= (p.Ile138=) n.794T= c.524T= (p.Ile175=) c.734T= (p.Ile245=) | |
15 | g.74896228C>A | CA491491401 | MPI | c.747C>A (p.Ile249=) c.564C>A (p.Ile188=) c.597C>A (p.Ile199=) c.687C>A (p.Ile229=) c.256-1311C>A (n.256-1311C>A) c.414C>A (p.Ile138=) n.795C>A c.525C>A (p.Ile175=) c.735C>A (p.Ile245=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.74896228C= | CA2187901822 | MPI | c.747C= (p.Ile249=) c.564C= (p.Ile188=) c.597C= (p.Ile199=) c.687C= (p.Ile229=) c.256-1311C= (n.256-1311C=) c.414C= (p.Ile138=) n.795C= c.525C= (p.Ile175=) c.735C= (p.Ile245=) | |
15 | g.74896228C>G | CA393175923 | MPI | c.747C>G (p.Ile249Met) c.564C>G (p.Ile188Met) c.597C>G (p.Ile199Met) c.687C>G (p.Ile229Met) c.256-1311C>G (n.256-1311C>G) c.414C>G (p.Ile138Met) n.795C>G c.525C>G (p.Ile175Met) c.735C>G (p.Ile245Met) | |
15 | g.74896228C>T | CA7662535 | MPI | c.747C>T (p.Ile249=) c.564C>T (p.Ile188=) c.597C>T (p.Ile199=) c.687C>T (p.Ile229=) c.256-1311C>T (n.256-1311C>T) c.414C>T (p.Ile138=) n.795C>T c.525C>T (p.Ile175=) c.735C>T (p.Ile245=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.74896229G>A | CA7662536 | MPI | c.748G>A (p.Gly250Ser) c.565G>A (p.Gly189Ser) c.598G>A (p.Gly200Ser) c.688G>A (p.Gly230Ser) c.256-1310G>A (n.256-1310G>A) c.415G>A (p.Gly139Ser) n.796G>A c.526G>A (p.Gly176Ser) c.736G>A (p.Gly246Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.74896229G>C | CA393175924 | MPI | c.748G>C (p.Gly250Arg) c.565G>C (p.Gly189Arg) c.598G>C (p.Gly200Arg) c.688G>C (p.Gly230Arg) c.256-1310G>C (n.256-1310G>C) c.415G>C (p.Gly139Arg) n.796G>C c.526G>C (p.Gly176Arg) c.736G>C (p.Gly246Arg) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.74896229G= | CA2187901825 | MPI | c.748G= (p.Gly250=) c.565G= (p.Gly189=) c.598G= (p.Gly200=) c.688G= (p.Gly230=) c.256-1310G= (n.256-1310G=) c.415G= (p.Gly139=) n.796G= c.526G= (p.Gly176=) c.736G= (p.Gly246=) | |
15 | g.74896229G>T | CA393175925 | MPI | c.748G>T (p.Gly250Cys) c.565G>T (p.Gly189Cys) c.598G>T (p.Gly200Cys) c.688G>T (p.Gly230Cys) c.256-1310G>T (n.256-1310G>T) c.415G>T (p.Gly139Cys) n.796G>T c.526G>T (p.Gly176Cys) c.736G>T (p.Gly246Cys) | |
15 | g.74896230G>A | CA393175927 | MPI | c.749G>A (p.Gly250Asp) c.566G>A (p.Gly189Asp) c.599G>A (p.Gly200Asp) c.689G>A (p.Gly230Asp) c.256-1309G>A (n.256-1309G>A) c.416G>A (p.Gly139Asp) n.797G>A c.527G>A (p.Gly176Asp) c.737G>A (p.Gly246Asp) | dbSNP |
15 | g.74896230G>C | CA393175928 | MPI | c.749G>C (p.Gly250Ala) c.566G>C (p.Gly189Ala) c.599G>C (p.Gly200Ala) c.689G>C (p.Gly230Ala) c.256-1309G>C (n.256-1309G>C) c.416G>C (p.Gly139Ala) n.797G>C c.527G>C (p.Gly176Ala) c.737G>C (p.Gly246Ala) | |
15 | g.74896230G= | CA2187901829 | MPI | c.749G= (p.Gly250=) c.566G= (p.Gly189=) c.599G= (p.Gly200=) c.689G= (p.Gly230=) c.256-1309G= (n.256-1309G=) c.416G= (p.Gly139=) n.797G= c.527G= (p.Gly176=) c.737G= (p.Gly246=) | |
15 | g.74896230G>T | CA393175926 | MPI | c.749G>T (p.Gly250Val) c.566G>T (p.Gly189Val) c.599G>T (p.Gly200Val) c.689G>T (p.Gly230Val) c.256-1309G>T (n.256-1309G>T) c.416G>T (p.Gly139Val) n.797G>T c.527G>T (p.Gly176Val) c.737G>T (p.Gly246Val) | |
15 | g.74896231C>A | CA491491402 | MPI | c.750C>A (p.Gly250=) c.567C>A (p.Gly189=) c.600C>A (p.Gly200=) c.690C>A (p.Gly230=) c.256-1308C>A (n.256-1308C>A) c.417C>A (p.Gly139=) n.798C>A c.528C>A (p.Gly176=) c.738C>A (p.Gly246=) | |
15 | g.74896231C= | CA2187901832 | MPI | c.750C= (p.Gly250=) c.567C= (p.Gly189=) c.600C= (p.Gly200=) c.690C= (p.Gly230=) c.256-1308C= (n.256-1308C=) c.417C= (p.Gly139=) n.798C= c.528C= (p.Gly176=) c.738C= (p.Gly246=) | |
15 | g.74896231C>G | CA491491404 | MPI | c.750C>G (p.Gly250=) c.567C>G (p.Gly189=) c.600C>G (p.Gly200=) c.690C>G (p.Gly230=) c.256-1308C>G (n.256-1308C>G) c.417C>G (p.Gly139=) n.798C>G c.528C>G (p.Gly176=) c.738C>G (p.Gly246=) | |
15 | g.74896231C>T | CA491491403 | MPI | c.750C>T (p.Gly250=) c.567C>T (p.Gly189=) c.600C>T (p.Gly200=) c.690C>T (p.Gly230=) c.256-1308C>T (n.256-1308C>T) c.417C>T (p.Gly139=) n.798C>T c.528C>T (p.Gly176=) c.738C>T (p.Gly246=) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.74896232del | CA2739269589 | MPI | c.751del (p.Cys251AlafsTer7) c.568del (p.Cys190AlafsTer7) c.601del (p.Cys201AlafsTer7) c.691del (p.Cys231AlafsTer7) c.256-1307del (n.256-1307del) c.418del (p.Cys140AlafsTer7) n.799del c.529del (p.Cys177AlafsTer7) c.739del (p.Cys247AlafsTer7) | ClinVar |
15 | g.74896232T>A | CA393175929 | MPI | c.751T>A (p.Cys251Ser) c.568T>A (p.Cys190Ser) c.601T>A (p.Cys201Ser) c.691T>A (p.Cys231Ser) c.256-1307T>A (n.256-1307T>A) c.418T>A (p.Cys140Ser) n.799T>A c.529T>A (p.Cys177Ser) c.739T>A (p.Cys247Ser) | |
15 | g.74896232T>C | CA393175930 | MPI | c.751T>C (p.Cys251Arg) c.568T>C (p.Cys190Arg) c.601T>C (p.Cys201Arg) c.691T>C (p.Cys231Arg) c.256-1307T>C (n.256-1307T>C) c.418T>C (p.Cys140Arg) n.799T>C c.529T>C (p.Cys177Arg) c.739T>C (p.Cys247Arg) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.74896232T>G | CA393175931 | MPI | c.751T>G (p.Cys251Gly) c.568T>G (p.Cys190Gly) c.601T>G (p.Cys201Gly) c.691T>G (p.Cys231Gly) c.256-1307T>G (n.256-1307T>G) c.418T>G (p.Cys140Gly) n.799T>G c.529T>G (p.Cys177Gly) c.739T>G (p.Cys247Gly) | |
15 | g.74896232T= | CA2187901834 | MPI | c.751T= (p.Cys251=) c.568T= (p.Cys190=) c.601T= (p.Cys201=) c.691T= (p.Cys231=) c.256-1307T= (n.256-1307T=) c.418T= (p.Cys140=) n.799T= c.529T= (p.Cys177=) c.739T= (p.Cys247=) | |
15 | g.74896233G>A | CA393175932 | MPI | c.752G>A (p.Cys251Tyr) c.569G>A (p.Cys190Tyr) c.602G>A (p.Cys201Tyr) c.692G>A (p.Cys231Tyr) c.256-1306G>A (n.256-1306G>A) c.419G>A (p.Cys140Tyr) n.800G>A c.530G>A (p.Cys177Tyr) c.740G>A (p.Cys247Tyr) | COSMIC |
15 | g.74896233G>C | CA393175933 | MPI | c.752G>C (p.Cys251Ser) c.569G>C (p.Cys190Ser) c.602G>C (p.Cys201Ser) c.692G>C (p.Cys231Ser) c.256-1306G>C (n.256-1306G>C) c.419G>C (p.Cys140Ser) n.800G>C c.530G>C (p.Cys177Ser) c.740G>C (p.Cys247Ser) | |
15 | g.74896233G>T | CA393175934 | MPI | c.752G>T (p.Cys251Phe) c.569G>T (p.Cys190Phe) c.602G>T (p.Cys201Phe) c.692G>T (p.Cys231Phe) c.256-1306G>T (n.256-1306G>T) c.419G>T (p.Cys140Phe) n.800G>T c.530G>T (p.Cys177Phe) c.740G>T (p.Cys247Phe) | |
15 | g.74896234del | CA2573151157 | MPI | c.753del (p.Phe252LeufsTer6) c.570del (p.Phe191LeufsTer6) c.603del (p.Phe202LeufsTer6) c.693del (p.Phe232LeufsTer6) c.256-1305del (n.256-1305del) c.420del (p.Phe141LeufsTer6) n.801del c.531del (p.Phe178LeufsTer6) c.741del (p.Phe248LeufsTer6) | ClinVar dbSNP |
15 | g.74896234C>A | CA393175935 | MPI | c.753C>A (p.Cys251Ter) c.570C>A (p.Cys190Ter) c.603C>A (p.Cys201Ter) c.693C>A (p.Cys231Ter) c.256-1305C>A (n.256-1305C>A) c.420C>A (p.Cys140Ter) n.801C>A c.531C>A (p.Cys177Ter) c.741C>A (p.Cys247Ter) | |
15 | g.74896234C= | CA2187901837 | MPI | c.753C= (p.Cys251=) c.570C= (p.Cys190=) c.603C= (p.Cys201=) c.693C= (p.Cys231=) c.256-1305C= (n.256-1305C=) c.420C= (p.Cys140=) n.801C= c.531C= (p.Cys177=) c.741C= (p.Cys247=) | |
15 | g.74896234C>G | CA7662537 | MPI | c.753C>G (p.Cys251Trp) c.570C>G (p.Cys190Trp) c.603C>G (p.Cys201Trp) c.693C>G (p.Cys231Trp) c.256-1305C>G (n.256-1305C>G) c.420C>G (p.Cys140Trp) n.801C>G c.531C>G (p.Cys177Trp) c.741C>G (p.Cys247Trp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.74896234C>T | CA491491405 | MPI | c.753C>T (p.Cys251=) c.570C>T (p.Cys190=) c.603C>T (p.Cys201=) c.693C>T (p.Cys231=) c.256-1305C>T (n.256-1305C>T) c.420C>T (p.Cys140=) n.801C>T c.531C>T (p.Cys177=) c.741C>T (p.Cys247=) | |
15 | g.74896235T>A | CA7662539 | MPI | c.754T>A (p.Phe252Ile) c.571T>A (p.Phe191Ile) c.604T>A (p.Phe202Ile) c.694T>A (p.Phe232Ile) c.256-1304T>A (n.256-1304T>A) c.421T>A (p.Phe141Ile) n.802T>A c.532T>A (p.Phe178Ile) c.742T>A (p.Phe248Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.74896235T>C | CA393175936 | MPI | c.754T>C (p.Phe252Leu) c.571T>C (p.Phe191Leu) c.604T>C (p.Phe202Leu) c.694T>C (p.Phe232Leu) c.256-1304T>C (n.256-1304T>C) c.421T>C (p.Phe141Leu) n.802T>C c.532T>C (p.Phe178Leu) c.742T>C (p.Phe248Leu) | |
15 | g.74896235T>G | CA7662538 | MPI | c.754T>G (p.Phe252Val) c.571T>G (p.Phe191Val) c.604T>G (p.Phe202Val) c.694T>G (p.Phe232Val) c.256-1304T>G (n.256-1304T>G) c.421T>G (p.Phe141Val) n.802T>G c.532T>G (p.Phe178Val) c.742T>G (p.Phe248Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.74896235T= | CA2187901843 | MPI | c.754T= (p.Phe252=) c.571T= (p.Phe191=) c.604T= (p.Phe202=) c.694T= (p.Phe232=) c.256-1304T= (n.256-1304T=) c.421T= (p.Phe141=) n.802T= c.532T= (p.Phe178=) c.742T= (p.Phe248=) | |
15 | g.74896237dup | CA2840616855 | MPI | c.756dup (p.Ala253CysfsTer?) c.573dup (p.Ala192CysfsTer?) c.606dup (p.Ala203CysfsTer?) c.696dup (p.Ala233CysfsTer?) c.256-1302dup (n.256-1302dup) c.423dup (p.Ala142CysfsTer?) n.804dup c.534dup (p.Ala179CysfsTer?) c.744dup (p.Ala249CysfsTer?) | |
15 | g.74896236T>A | CA393175938 | MPI | c.755T>A (p.Phe252Tyr) c.572T>A (p.Phe191Tyr) c.605T>A (p.Phe202Tyr) c.695T>A (p.Phe232Tyr) c.256-1303T>A (n.256-1303T>A) c.422T>A (p.Phe141Tyr) n.803T>A c.533T>A (p.Phe178Tyr) c.743T>A (p.Phe248Tyr) | |
15 | g.74896236T>C | CA393175939 | MPI | c.755T>C (p.Phe252Ser) c.572T>C (p.Phe191Ser) c.605T>C (p.Phe202Ser) c.695T>C (p.Phe232Ser) c.256-1303T>C (n.256-1303T>C) c.422T>C (p.Phe141Ser) n.803T>C c.533T>C (p.Phe178Ser) c.743T>C (p.Phe248Ser) | |
15 | g.74896236T>G | CA393175937 | MPI | c.755T>G (p.Phe252Cys) c.572T>G (p.Phe191Cys) c.605T>G (p.Phe202Cys) c.695T>G (p.Phe232Cys) c.256-1303T>G (n.256-1303T>G) c.422T>G (p.Phe141Cys) n.803T>G c.533T>G (p.Phe178Cys) c.743T>G (p.Phe248Cys) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.74896236T= | CA2187901847 | MPI | c.755T= (p.Phe252=) c.572T= (p.Phe191=) c.605T= (p.Phe202=) c.695T= (p.Phe232=) c.256-1303T= (n.256-1303T=) c.422T= (p.Phe141=) n.803T= c.533T= (p.Phe178=) c.743T= (p.Phe248=) | |
15 | g.74896237T>A | CA393175940 | MPI | c.756T>A (p.Phe252Leu) c.573T>A (p.Phe191Leu) c.606T>A (p.Phe202Leu) c.696T>A (p.Phe232Leu) c.256-1302T>A (n.256-1302T>A) c.423T>A (p.Phe141Leu) n.804T>A c.534T>A (p.Phe178Leu) c.744T>A (p.Phe248Leu) | |
15 | g.74896237T>C | CA491491406 | MPI | c.756T>C (p.Phe252=) c.573T>C (p.Phe191=) c.606T>C (p.Phe202=) c.696T>C (p.Phe232=) c.256-1302T>C (n.256-1302T>C) c.423T>C (p.Phe141=) n.804T>C c.534T>C (p.Phe178=) c.744T>C (p.Phe248=) | gnomAD v4 |
15 | g.74896237T>G | CA393175941 | MPI | c.756T>G (p.Phe252Leu) c.573T>G (p.Phe191Leu) c.606T>G (p.Phe202Leu) c.696T>G (p.Phe232Leu) c.256-1302T>G (n.256-1302T>G) c.423T>G (p.Phe141Leu) n.804T>G c.534T>G (p.Phe178Leu) c.744T>G (p.Phe248Leu) | |
15 | g.74896238G>A | CA393175942 | MPI | c.757G>A (p.Ala253Thr) c.574G>A (p.Ala192Thr) c.607G>A (p.Ala203Thr) c.697G>A (p.Ala233Thr) c.256-1301G>A (n.256-1301G>A) c.424G>A (p.Ala142Thr) n.805G>A c.535G>A (p.Ala179Thr) c.745G>A (p.Ala249Thr) | |
15 | g.74896238G>C | CA393175943 | MPI | c.757G>C (p.Ala253Pro) c.574G>C (p.Ala192Pro) c.607G>C (p.Ala203Pro) c.697G>C (p.Ala233Pro) c.256-1301G>C (n.256-1301G>C) c.424G>C (p.Ala142Pro) n.805G>C c.535G>C (p.Ala179Pro) c.745G>C (p.Ala249Pro) | |
15 | g.74896238G>T | CA393175944 | MPI | c.757G>T (p.Ala253Ser) c.574G>T (p.Ala192Ser) c.607G>T (p.Ala203Ser) c.697G>T (p.Ala233Ser) c.256-1301G>T (n.256-1301G>T) c.424G>T (p.Ala142Ser) n.805G>T c.535G>T (p.Ala179Ser) c.745G>T (p.Ala249Ser) | |
15 | g.74896239C>A | CA7662540 | MPI | c.758C>A (p.Ala253Asp) c.575C>A (p.Ala192Asp) c.608C>A (p.Ala203Asp) c.698C>A (p.Ala233Asp) c.256-1300C>A (n.256-1300C>A) c.425C>A (p.Ala142Asp) n.806C>A c.536C>A (p.Ala179Asp) c.746C>A (p.Ala249Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.74896239C= | CA2187901849 | MPI | c.758C= (p.Ala253=) c.575C= (p.Ala192=) c.608C= (p.Ala203=) c.698C= (p.Ala233=) c.256-1300C= (n.256-1300C=) c.425C= (p.Ala142=) n.806C= c.536C= (p.Ala179=) c.746C= (p.Ala249=) | |
15 | g.74896239C>G | CA393175945 | MPI | c.758C>G (p.Ala253Gly) c.575C>G (p.Ala192Gly) c.608C>G (p.Ala203Gly) c.698C>G (p.Ala233Gly) c.256-1300C>G (n.256-1300C>G) c.425C>G (p.Ala142Gly) n.806C>G c.536C>G (p.Ala179Gly) c.746C>G (p.Ala249Gly) | |
15 | g.74896239C>T | CA393175946 | MPI | c.758C>T (p.Ala253Val) c.575C>T (p.Ala192Val) c.608C>T (p.Ala203Val) c.698C>T (p.Ala233Val) c.256-1300C>T (n.256-1300C>T) c.425C>T (p.Ala142Val) n.806C>T c.536C>T (p.Ala179Val) c.746C>T (p.Ala249Val) | gnomAD v4 |
15 | g.74896240C>A | CA491491407 | MPI | c.759C>A (p.Ala253=) c.576C>A (p.Ala192=) c.609C>A (p.Ala203=) c.699C>A (p.Ala233=) c.256-1299C>A (n.256-1299C>A) c.426C>A (p.Ala142=) n.807C>A c.537C>A (p.Ala179=) c.747C>A (p.Ala249=) | |
15 | g.74896240C>G | CA491491408 | MPI | c.759C>G (p.Ala253=) c.576C>G (p.Ala192=) c.609C>G (p.Ala203=) c.699C>G (p.Ala233=) c.256-1299C>G (n.256-1299C>G) c.426C>G (p.Ala142=) n.807C>G c.537C>G (p.Ala179=) c.747C>G (p.Ala249=) | |
15 | g.74896240C>T | CA491491409 | MPI | c.759C>T (p.Ala253=) c.576C>T (p.Ala192=) c.609C>T (p.Ala203=) c.699C>T (p.Ala233=) c.256-1299C>T (n.256-1299C>T) c.426C>T (p.Ala142=) n.807C>T c.537C>T (p.Ala179=) c.747C>T (p.Ala249=) | |
15 | g.74896241A>C | CA393175947 | MPI | c.760A>C (p.Ile254Leu) c.577A>C (p.Ile193Leu) c.610A>C (p.Ile204Leu) c.700A>C (p.Ile234Leu) c.256-1298A>C (n.256-1298A>C) c.427A>C (p.Ile143Leu) n.808A>C c.538A>C (p.Ile180Leu) c.748A>C (p.Ile250Leu) | |
15 | g.74896241A>G | CA393175948 | MPI | c.760A>G (p.Ile254Val) c.577A>G (p.Ile193Val) c.610A>G (p.Ile204Val) c.700A>G (p.Ile234Val) c.256-1298A>G (n.256-1298A>G) c.427A>G (p.Ile143Val) n.808A>G c.538A>G (p.Ile180Val) c.748A>G (p.Ile250Val) | gnomAD v4 |
15 | g.74896241A>T | CA393175949 | MPI | c.760A>T (p.Ile254Phe) c.577A>T (p.Ile193Phe) c.610A>T (p.Ile204Phe) c.700A>T (p.Ile234Phe) c.256-1298A>T (n.256-1298A>T) c.427A>T (p.Ile143Phe) n.808A>T c.538A>T (p.Ile180Phe) c.748A>T (p.Ile250Phe) | |
15 | g.74896242T>A | CA393175950 | MPI | c.761T>A (p.Ile254Asn) c.578T>A (p.Ile193Asn) c.611T>A (p.Ile204Asn) c.701T>A (p.Ile234Asn) c.256-1297T>A (n.256-1297T>A) c.428T>A (p.Ile143Asn) n.809T>A c.539T>A (p.Ile180Asn) c.749T>A (p.Ile250Asn) | |
15 | g.74896242T>C | CA393175951 | MPI | c.761T>C (p.Ile254Thr) c.578T>C (p.Ile193Thr) c.611T>C (p.Ile204Thr) c.701T>C (p.Ile234Thr) c.256-1297T>C (n.256-1297T>C) c.428T>C (p.Ile143Thr) n.809T>C c.539T>C (p.Ile180Thr) c.749T>C (p.Ile250Thr) | gnomAD v4 |
15 | g.74896242T>G | CA393175952 | MPI | c.761T>G (p.Ile254Ser) c.578T>G (p.Ile193Ser) c.611T>G (p.Ile204Ser) c.701T>G (p.Ile234Ser) c.256-1297T>G (n.256-1297T>G) c.428T>G (p.Ile143Ser) n.809T>G c.539T>G (p.Ile180Ser) c.749T>G (p.Ile250Ser) | |
15 | g.74896243C>A | CA491491410 | MPI | c.762C>A (p.Ile254=) c.579C>A (p.Ile193=) c.612C>A (p.Ile204=) c.702C>A (p.Ile234=) c.256-1296C>A (n.256-1296C>A) c.429C>A (p.Ile143=) n.810C>A c.540C>A (p.Ile180=) c.750C>A (p.Ile250=) | |
15 | g.74896243C= | CA2187901854 | MPI | c.762C= (p.Ile254=) c.579C= (p.Ile193=) c.612C= (p.Ile204=) c.702C= (p.Ile234=) c.256-1296C= (n.256-1296C=) c.429C= (p.Ile143=) n.810C= c.540C= (p.Ile180=) c.750C= (p.Ile250=) | |
15 | g.74896243C>G | CA393175953 | MPI | c.762C>G (p.Ile254Met) c.579C>G (p.Ile193Met) c.612C>G (p.Ile204Met) c.702C>G (p.Ile234Met) c.256-1296C>G (n.256-1296C>G) c.429C>G (p.Ile143Met) n.810C>G c.540C>G (p.Ile180Met) c.750C>G (p.Ile250Met) | |
15 | g.74896243C>T | CA147582 | MPI | c.762C>T (p.Ile254=) c.579C>T (p.Ile193=) c.612C>T (p.Ile204=) c.702C>T (p.Ile234=) c.256-1296C>T (n.256-1296C>T) c.429C>T (p.Ile143=) n.810C>T c.540C>T (p.Ile180=) c.750C>T (p.Ile250=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.74896245_74896257del | CA2580089997 | MPI | c.764_776del (p.Tyr255CysfsTer4) c.581_593del (p.Tyr194CysfsTer4) c.614_626del (p.Tyr205CysfsTer4) c.704_716del (p.Tyr235CysfsTer4) c.256-1294_256-1282del (n.256-1294_256-1282del) c.431_443del (p.Tyr144CysfsTer4) n.812_824del c.542_554del (p.Tyr181CysfsTer4) c.752_764del (p.Tyr251CysfsTer4) | ClinVar |
15 | g.74896244T>A | CA393175954 | MPI | c.763T>A (p.Tyr255Asn) c.580T>A (p.Tyr194Asn) c.613T>A (p.Tyr205Asn) c.703T>A (p.Tyr235Asn) c.256-1295T>A (n.256-1295T>A) c.430T>A (p.Tyr144Asn) n.811T>A c.541T>A (p.Tyr181Asn) c.751T>A (p.Tyr251Asn) | |
15 | g.74896244T>C | CA393175956 | MPI | c.763T>C (p.Tyr255His) c.580T>C (p.Tyr194His) c.613T>C (p.Tyr205His) c.703T>C (p.Tyr235His) c.256-1295T>C (n.256-1295T>C) c.430T>C (p.Tyr144His) n.811T>C c.541T>C (p.Tyr181His) c.751T>C (p.Tyr251His) | |
15 | g.74896244T>G | CA393175955 | MPI | c.763T>G (p.Tyr255Asp) c.580T>G (p.Tyr194Asp) c.613T>G (p.Tyr205Asp) c.703T>G (p.Tyr235Asp) c.256-1295T>G (n.256-1295T>G) c.430T>G (p.Tyr144Asp) n.811T>G c.541T>G (p.Tyr181Asp) c.751T>G (p.Tyr251Asp) | |
15 | g.74896245A>C | CA393175957 | MPI | c.764A>C (p.Tyr255Ser) c.581A>C (p.Tyr194Ser) c.614A>C (p.Tyr205Ser) c.704A>C (p.Tyr235Ser) c.256-1294A>C (n.256-1294A>C) c.431A>C (p.Tyr144Ser) n.812A>C c.542A>C (p.Tyr181Ser) c.752A>C (p.Tyr251Ser) | |
15 | g.74896245A>G | CA393175958 | MPI | c.764A>G (p.Tyr255Cys) c.581A>G (p.Tyr194Cys) c.614A>G (p.Tyr205Cys) c.704A>G (p.Tyr235Cys) c.256-1294A>G (n.256-1294A>G) c.431A>G (p.Tyr144Cys) n.812A>G c.542A>G (p.Tyr181Cys) c.752A>G (p.Tyr251Cys) | ClinVar |
15 | g.74896245A>T | CA393175959 | MPI | c.764A>T (p.Tyr255Phe) c.581A>T (p.Tyr194Phe) c.614A>T (p.Tyr205Phe) c.704A>T (p.Tyr235Phe) c.256-1294A>T (n.256-1294A>T) c.431A>T (p.Tyr144Phe) n.812A>T c.542A>T (p.Tyr181Phe) c.752A>T (p.Tyr251Phe) | |
15 | g.74896246C>A | CA7662541 | MPI | c.765C>A (p.Tyr255Ter) c.582C>A (p.Tyr194Ter) c.615C>A (p.Tyr205Ter) c.705C>A (p.Tyr235Ter) c.256-1293C>A (n.256-1293C>A) c.432C>A (p.Tyr144Ter) n.813C>A c.543C>A (p.Tyr181Ter) c.753C>A (p.Tyr251Ter) | dbSNP ExAC gnomAD v2 |
15 | g.74896246C= | CA2187901858 | MPI | c.765C= (p.Tyr255=) c.582C= (p.Tyr194=) c.615C= (p.Tyr205=) c.705C= (p.Tyr235=) c.256-1293C= (n.256-1293C=) c.432C= (p.Tyr144=) n.813C= c.543C= (p.Tyr181=) c.753C= (p.Tyr251=) | |
15 | g.74896246C>G | CA393175960 | MPI | c.765C>G (p.Tyr255Ter) c.582C>G (p.Tyr194Ter) c.615C>G (p.Tyr205Ter) c.705C>G (p.Tyr235Ter) c.256-1293C>G (n.256-1293C>G) c.432C>G (p.Tyr144Ter) n.813C>G c.543C>G (p.Tyr181Ter) c.753C>G (p.Tyr251Ter) | |
15 | g.74896246C>T | CA491491411 | MPI | c.765C>T (p.Tyr255=) c.582C>T (p.Tyr194=) c.615C>T (p.Tyr205=) c.705C>T (p.Tyr235=) c.256-1293C>T (n.256-1293C>T) c.432C>T (p.Tyr144=) n.813C>T c.543C>T (p.Tyr181=) c.753C>T (p.Tyr251=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.74896247T>A | CA393175961 | MPI | c.766T>A (p.Phe256Ile) c.583T>A (p.Phe195Ile) c.616T>A (p.Phe206Ile) c.706T>A (p.Phe236Ile) c.256-1292T>A (n.256-1292T>A) c.433T>A (p.Phe145Ile) n.814T>A c.544T>A (p.Phe182Ile) c.754T>A (p.Phe252Ile) | |
15 | g.74896247T>C | CA393175962 | MPI | c.766T>C (p.Phe256Leu) c.583T>C (p.Phe195Leu) c.616T>C (p.Phe206Leu) c.706T>C (p.Phe236Leu) c.256-1292T>C (n.256-1292T>C) c.433T>C (p.Phe145Leu) n.814T>C c.544T>C (p.Phe182Leu) c.754T>C (p.Phe252Leu) | |
15 | g.74896247T>G | CA393175963 | MPI | c.766T>G (p.Phe256Val) c.583T>G (p.Phe195Val) c.616T>G (p.Phe206Val) c.706T>G (p.Phe236Val) c.256-1292T>G (n.256-1292T>G) c.433T>G (p.Phe145Val) n.814T>G c.544T>G (p.Phe182Val) c.754T>G (p.Phe252Val) | |
15 | g.74896248T>A | CA393175964 | MPI | c.767T>A (p.Phe256Tyr) c.584T>A (p.Phe195Tyr) c.617T>A (p.Phe206Tyr) c.707T>A (p.Phe236Tyr) c.256-1291T>A (n.256-1291T>A) c.434T>A (p.Phe145Tyr) n.815T>A c.545T>A (p.Phe182Tyr) c.755T>A (p.Phe252Tyr) | |
15 | g.74896248T>C | CA393175965 | MPI | c.767T>C (p.Phe256Ser) c.584T>C (p.Phe195Ser) c.617T>C (p.Phe206Ser) c.707T>C (p.Phe236Ser) c.256-1291T>C (n.256-1291T>C) c.434T>C (p.Phe145Ser) n.815T>C c.545T>C (p.Phe182Ser) c.755T>C (p.Phe252Ser) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.74896248T>G | CA393175966 | MPI | c.767T>G (p.Phe256Cys) c.584T>G (p.Phe195Cys) c.617T>G (p.Phe206Cys) c.707T>G (p.Phe236Cys) c.256-1291T>G (n.256-1291T>G) c.434T>G (p.Phe145Cys) n.815T>G c.545T>G (p.Phe182Cys) c.755T>G (p.Phe252Cys) | |
15 | g.74896248T= | CA2187901861 | MPI | c.767T= (p.Phe256=) c.584T= (p.Phe195=) c.617T= (p.Phe206=) c.707T= (p.Phe236=) c.256-1291T= (n.256-1291T=) c.434T= (p.Phe145=) n.815T= c.545T= (p.Phe182=) c.755T= (p.Phe252=) | |
15 | g.74896249C>A | CA393175967 | MPI | c.768C>A (p.Phe256Leu) c.585C>A (p.Phe195Leu) c.618C>A (p.Phe206Leu) c.708C>A (p.Phe236Leu) c.256-1290C>A (n.256-1290C>A) c.435C>A (p.Phe145Leu) n.816C>A c.546C>A (p.Phe182Leu) c.756C>A (p.Phe252Leu) | |
15 | g.74896249C= | CA2187901864 | MPI | c.768C= (p.Phe256=) c.585C= (p.Phe195=) c.618C= (p.Phe206=) c.708C= (p.Phe236=) c.256-1290C= (n.256-1290C=) c.435C= (p.Phe145=) n.816C= c.546C= (p.Phe182=) c.756C= (p.Phe252=) | |
15 | g.74896249C>G | CA393175968 | MPI | c.768C>G (p.Phe256Leu) c.585C>G (p.Phe195Leu) c.618C>G (p.Phe206Leu) c.708C>G (p.Phe236Leu) c.256-1290C>G (n.256-1290C>G) c.435C>G (p.Phe145Leu) n.816C>G c.546C>G (p.Phe182Leu) c.756C>G (p.Phe252Leu) | |
15 | g.74896249C>T | CA491491412 | MPI | c.768C>T (p.Phe256=) c.585C>T (p.Phe195=) c.618C>T (p.Phe206=) c.708C>T (p.Phe236=) c.256-1290C>T (n.256-1290C>T) c.435C>T (p.Phe145=) n.816C>T c.546C>T (p.Phe182=) c.756C>T (p.Phe252=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.74896250C>A | CA393175969 | MPI | c.769C>A (p.Leu257Met) c.586C>A (p.Leu196Met) c.619C>A (p.Leu207Met) c.709C>A (p.Leu237Met) c.256-1289C>A (n.256-1289C>A) c.436C>A (p.Leu146Met) n.817C>A c.547C>A (p.Leu183Met) c.757C>A (p.Leu253Met) | |
15 | g.74896250C= | CA2187901871 | MPI | c.769C= (p.Leu257=) c.586C= (p.Leu196=) c.619C= (p.Leu207=) c.709C= (p.Leu237=) c.256-1289C= (n.256-1289C=) c.436C= (p.Leu146=) n.817C= c.547C= (p.Leu183=) c.757C= (p.Leu253=) | |
15 | g.74896250C>G | CA393175970 | MPI | c.769C>G (p.Leu257Val) c.586C>G (p.Leu196Val) c.619C>G (p.Leu207Val) c.709C>G (p.Leu237Val) c.256-1289C>G (n.256-1289C>G) c.436C>G (p.Leu146Val) n.817C>G c.547C>G (p.Leu183Val) c.757C>G (p.Leu253Val) | |
15 | g.74896250C>T | CA491491413 | MPI | c.769C>T (p.Leu257=) c.586C>T (p.Leu196=) c.619C>T (p.Leu207=) c.709C>T (p.Leu237=) c.256-1289C>T (n.256-1289C>T) c.436C>T (p.Leu146=) n.817C>T c.547C>T (p.Leu183=) c.757C>T (p.Leu253=) | ClinVar dbSNP |
15 | g.74896251T>A | CA393175971 | MPI | c.770T>A (p.Leu257Gln) c.587T>A (p.Leu196Gln) c.620T>A (p.Leu207Gln) c.710T>A (p.Leu237Gln) c.256-1288T>A (n.256-1288T>A) c.437T>A (p.Leu146Gln) n.818T>A c.548T>A (p.Leu183Gln) c.758T>A (p.Leu253Gln) | |
15 | g.74896251T>C | CA393175972 | MPI | c.770T>C (p.Leu257Pro) c.587T>C (p.Leu196Pro) c.620T>C (p.Leu207Pro) c.710T>C (p.Leu237Pro) c.256-1288T>C (n.256-1288T>C) c.437T>C (p.Leu146Pro) n.818T>C c.548T>C (p.Leu183Pro) c.758T>C (p.Leu253Pro) | gnomAD v4 |
15 | g.74896251T>G | CA393175973 | MPI | c.770T>G (p.Leu257Arg) c.587T>G (p.Leu196Arg) c.620T>G (p.Leu207Arg) c.710T>G (p.Leu237Arg) c.256-1288T>G (n.256-1288T>G) c.437T>G (p.Leu146Arg) n.818T>G c.548T>G (p.Leu183Arg) c.758T>G (p.Leu253Arg) | dbSNP |
15 | g.74896251T= | CA2187901876 | MPI | c.770T= (p.Leu257=) c.587T= (p.Leu196=) c.620T= (p.Leu207=) c.710T= (p.Leu237=) c.256-1288T= (n.256-1288T=) c.437T= (p.Leu146=) n.818T= c.548T= (p.Leu183=) c.758T= (p.Leu253=) | |
15 | g.74896252G>A | CA491491416 | MPI | c.771G>A (p.Leu257=) c.588G>A (p.Leu196=) c.621G>A (p.Leu207=) c.711G>A (p.Leu237=) c.256-1287G>A (n.256-1287G>A) c.438G>A (p.Leu146=) n.819G>A c.549G>A (p.Leu183=) c.759G>A (p.Leu253=) | ClinVar dbSNP |
15 | g.74896252G>C | CA491491415 | MPI | c.771G>C (p.Leu257=) c.588G>C (p.Leu196=) c.621G>C (p.Leu207=) c.711G>C (p.Leu237=) c.256-1287G>C (n.256-1287G>C) c.438G>C (p.Leu146=) n.819G>C c.549G>C (p.Leu183=) c.759G>C (p.Leu253=) | |
15 | g.74896252G>T | CA491491414 | MPI | c.771G>T (p.Leu257=) c.588G>T (p.Leu196=) c.621G>T (p.Leu207=) c.711G>T (p.Leu237=) c.256-1287G>T (n.256-1287G>T) c.438G>T (p.Leu146=) n.819G>T c.549G>T (p.Leu183=) c.759G>T (p.Leu253=) | |
15 | g.74896253A>C | CA393175974 | MPI | c.772A>C (p.Asn258His) c.589A>C (p.Asn197His) c.622A>C (p.Asn208His) c.712A>C (p.Asn238His) c.256-1286A>C (n.256-1286A>C) c.439A>C (p.Asn147His) n.820A>C c.550A>C (p.Asn184His) c.760A>C (p.Asn254His) | |
15 | g.74896253A>G | CA393175975 | MPI | c.772A>G (p.Asn258Asp) c.589A>G (p.Asn197Asp) c.622A>G (p.Asn208Asp) c.712A>G (p.Asn238Asp) c.256-1286A>G (n.256-1286A>G) c.439A>G (p.Asn147Asp) n.820A>G c.550A>G (p.Asn184Asp) c.760A>G (p.Asn254Asp) | |
15 | g.74896253A>T | CA393175976 | MPI | c.772A>T (p.Asn258Tyr) c.589A>T (p.Asn197Tyr) c.622A>T (p.Asn208Tyr) c.712A>T (p.Asn238Tyr) c.256-1286A>T (n.256-1286A>T) c.439A>T (p.Asn147Tyr) n.820A>T c.550A>T (p.Asn184Tyr) c.760A>T (p.Asn254Tyr) | |
15 | g.74896254A>C | CA393175977 | MPI | c.773A>C (p.Asn258Thr) c.590A>C (p.Asn197Thr) c.623A>C (p.Asn208Thr) c.713A>C (p.Asn238Thr) c.256-1285A>C (n.256-1285A>C) c.440A>C (p.Asn147Thr) n.821A>C c.551A>C (p.Asn184Thr) c.761A>C (p.Asn254Thr) | |
15 | g.74896254A>G | CA393175978 | MPI | c.773A>G (p.Asn258Ser) c.590A>G (p.Asn197Ser) c.623A>G (p.Asn208Ser) c.713A>G (p.Asn238Ser) c.256-1285A>G (n.256-1285A>G) c.440A>G (p.Asn147Ser) n.821A>G c.551A>G (p.Asn184Ser) c.761A>G (p.Asn254Ser) | COSMIC |
15 | g.74896254A>T | CA393175979 | MPI | c.773A>T (p.Asn258Ile) c.590A>T (p.Asn197Ile) c.623A>T (p.Asn208Ile) c.713A>T (p.Asn238Ile) c.256-1285A>T (n.256-1285A>T) c.440A>T (p.Asn147Ile) n.821A>T c.551A>T (p.Asn184Ile) c.761A>T (p.Asn254Ile) | gnomAD v4 |
15 | g.74896255C>A | CA393175980 | MPI | c.774C>A (p.Asn258Lys) c.591C>A (p.Asn197Lys) c.624C>A (p.Asn208Lys) c.714C>A (p.Asn238Lys) c.256-1284C>A (n.256-1284C>A) c.441C>A (p.Asn147Lys) n.822C>A c.552C>A (p.Asn184Lys) c.762C>A (p.Asn254Lys) | |
15 | g.74896255C= | CA2187901879 | MPI | c.774C= (p.Asn258=) c.591C= (p.Asn197=) c.624C= (p.Asn208=) c.714C= (p.Asn238=) c.256-1284C= (n.256-1284C=) c.441C= (p.Asn147=) n.822C= c.552C= (p.Asn184=) c.762C= (p.Asn254=) | |
15 | g.74896255C>G | CA393175981 | MPI | c.774C>G (p.Asn258Lys) c.591C>G (p.Asn197Lys) c.624C>G (p.Asn208Lys) c.714C>G (p.Asn238Lys) c.256-1284C>G (n.256-1284C>G) c.441C>G (p.Asn147Lys) n.822C>G c.552C>G (p.Asn184Lys) c.762C>G (p.Asn254Lys) | |
15 | g.74896255C>T | CA491491417 | MPI | c.774C>T (p.Asn258=) c.591C>T (p.Asn197=) c.624C>T (p.Asn208=) c.714C>T (p.Asn238=) c.256-1284C>T (n.256-1284C>T) c.441C>T (p.Asn147=) n.822C>T c.552C>T (p.Asn184=) c.762C>T (p.Asn254=) | ClinVar dbSNP gnomAD v4 |
15 | g.74896256C>A | CA393175982 | MPI | c.775C>A (p.Leu259Met) c.592C>A (p.Leu198Met) c.625C>A (p.Leu209Met) c.715C>A (p.Leu239Met) c.256-1283C>A (n.256-1283C>A) c.442C>A (p.Leu148Met) n.823C>A c.553C>A (p.Leu185Met) c.763C>A (p.Leu255Met) | |
15 | g.74896256C>G | CA393175983 | MPI | c.775C>G (p.Leu259Val) c.592C>G (p.Leu198Val) c.625C>G (p.Leu209Val) c.715C>G (p.Leu239Val) c.256-1283C>G (n.256-1283C>G) c.442C>G (p.Leu148Val) n.823C>G c.553C>G (p.Leu185Val) c.763C>G (p.Leu255Val) | |
15 | g.74896256C>T | CA491491418 | MPI | c.775C>T (p.Leu259=) c.592C>T (p.Leu198=) c.625C>T (p.Leu209=) c.715C>T (p.Leu239=) c.256-1283C>T (n.256-1283C>T) c.442C>T (p.Leu148=) n.823C>T c.553C>T (p.Leu185=) c.763C>T (p.Leu255=) | ClinVar dbSNP |
15 | g.74896257T>A | CA393175984 | MPI | c.776T>A (p.Leu259Gln) c.593T>A (p.Leu198Gln) c.626T>A (p.Leu209Gln) c.716T>A (p.Leu239Gln) c.256-1282T>A (n.256-1282T>A) c.443T>A (p.Leu148Gln) n.824T>A c.554T>A (p.Leu185Gln) c.764T>A (p.Leu255Gln) | |
15 | g.74896257T>C | CA393175986 | MPI | c.776T>C (p.Leu259Pro) c.593T>C (p.Leu198Pro) c.626T>C (p.Leu209Pro) c.716T>C (p.Leu239Pro) c.256-1282T>C (n.256-1282T>C) c.443T>C (p.Leu148Pro) n.824T>C c.554T>C (p.Leu185Pro) c.764T>C (p.Leu255Pro) | gnomAD v4 |
15 | g.74896257T>G | CA393175985 | MPI | c.776T>G (p.Leu259Arg) c.593T>G (p.Leu198Arg) c.626T>G (p.Leu209Arg) c.716T>G (p.Leu239Arg) c.256-1282T>G (n.256-1282T>G) c.443T>G (p.Leu148Arg) n.824T>G c.554T>G (p.Leu185Arg) c.764T>G (p.Leu255Arg) | |
15 | g.74896258G>A | CA491491419 | MPI | c.777G>A (p.Leu259=) c.594G>A (p.Leu198=) c.627G>A (p.Leu209=) c.717G>A (p.Leu239=) c.256-1281G>A (n.256-1281G>A) c.444G>A (p.Leu148=) n.825G>A c.555G>A (p.Leu185=) c.765G>A (p.Leu255=) | ClinVar gnomAD v4 |
15 | g.74896258G>C | CA491491420 | MPI | c.777G>C (p.Leu259=) c.594G>C (p.Leu198=) c.627G>C (p.Leu209=) c.717G>C (p.Leu239=) c.256-1281G>C (n.256-1281G>C) c.444G>C (p.Leu148=) n.825G>C c.555G>C (p.Leu185=) c.765G>C (p.Leu255=) | gnomAD v4 |
15 | g.74896258G= | CA2187901882 | MPI | c.777G= (p.Leu259=) c.594G= (p.Leu198=) c.627G= (p.Leu209=) c.717G= (p.Leu239=) c.256-1281G= (n.256-1281G=) c.444G= (p.Leu148=) n.825G= c.555G= (p.Leu185=) c.765G= (p.Leu255=) | |
15 | g.74896258G>T | CA7662542 | MPI | c.777G>T (p.Leu259=) c.594G>T (p.Leu198=) c.627G>T (p.Leu209=) c.717G>T (p.Leu239=) c.256-1281G>T (n.256-1281G>T) c.444G>T (p.Leu148=) n.825G>T c.555G>T (p.Leu185=) c.765G>T (p.Leu255=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.74896259C>A | CA393175987 | MPI | c.778C>A (p.Leu260Ile) c.595C>A (p.Leu199Ile) c.628C>A (p.Leu210Ile) c.718C>A (p.Leu240Ile) c.256-1280C>A (n.256-1280C>A) c.445C>A (p.Leu149Ile) n.826C>A c.556C>A (p.Leu186Ile) c.766C>A (p.Leu256Ile) | |
15 | g.74896259C= | CA2187901888 | MPI | c.778C= (p.Leu260=) c.595C= (p.Leu199=) c.628C= (p.Leu210=) c.718C= (p.Leu240=) c.256-1280C= (n.256-1280C=) c.445C= (p.Leu149=) n.826C= c.556C= (p.Leu186=) c.766C= (p.Leu256=) | |
15 | g.74896259C>G | CA393175988 | MPI | c.778C>G (p.Leu260Val) c.595C>G (p.Leu199Val) c.628C>G (p.Leu210Val) c.718C>G (p.Leu240Val) c.256-1280C>G (n.256-1280C>G) c.445C>G (p.Leu149Val) n.826C>G c.556C>G (p.Leu186Val) c.766C>G (p.Leu256Val) | |
15 | g.74896259C>T | CA393175989 | MPI | c.778C>T (p.Leu260Phe) c.595C>T (p.Leu199Phe) c.628C>T (p.Leu210Phe) c.718C>T (p.Leu240Phe) c.256-1280C>T (n.256-1280C>T) c.445C>T (p.Leu149Phe) n.826C>T c.556C>T (p.Leu186Phe) c.766C>T (p.Leu256Phe) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.74896260T>A | CA393175990 | MPI | c.779T>A (p.Leu260His) c.596T>A (p.Leu199His) c.629T>A (p.Leu210His) c.719T>A (p.Leu240His) c.256-1279T>A (n.256-1279T>A) c.446T>A (p.Leu149His) n.827T>A c.557T>A (p.Leu186His) c.767T>A (p.Leu256His) | |
15 | g.74896260T>C | CA393175991 | MPI | c.779T>C (p.Leu260Pro) c.596T>C (p.Leu199Pro) c.629T>C (p.Leu210Pro) c.719T>C (p.Leu240Pro) c.256-1279T>C (n.256-1279T>C) c.446T>C (p.Leu149Pro) n.827T>C c.557T>C (p.Leu186Pro) c.767T>C (p.Leu256Pro) | |
15 | g.74896260T>G | CA393175992 | MPI | c.779T>G (p.Leu260Arg) c.596T>G (p.Leu199Arg) c.629T>G (p.Leu210Arg) c.719T>G (p.Leu240Arg) c.256-1279T>G (n.256-1279T>G) c.446T>G (p.Leu149Arg) n.827T>G c.557T>G (p.Leu186Arg) c.767T>G (p.Leu256Arg) | |
15 | g.74896261del | CA2840616856 | MPI | c.780del (p.Thr261ProfsTer2) c.597del (p.Thr200ProfsTer2) c.630del (p.Thr211ProfsTer2) c.720del (p.Thr241ProfsTer2) c.256-1278del (n.256-1278del) c.447del (p.Thr150ProfsTer2) n.828del c.558del (p.Thr187ProfsTer2) c.768del (p.Thr257ProfsTer2) |