| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.113118518C>A | CA388785975 | F7 | c.845C>A (p.Ala282Glu) c.911C>A (p.Ala304Glu) c.659C>A (p.Ala220Glu) n.932C>A c.704C>A (p.Ala235Glu) c.953C>A (p.Ala318Glu) c.767C>A (p.Ala256Glu) c.605C>A (p.Ala202Glu) c.914C>A (p.Ala305Glu) c.749C>A (p.Ala250Glu) c.998C>A (p.Ala333Glu) c.812C>A (p.Ala271Glu) n.929C>A | |
| 13 | g.113118518C= | CA2120141997 | F7 | c.845C= (p.Ala282=) c.911C= (p.Ala304=) c.659C= (p.Ala220=) n.932C= c.704C= (p.Ala235=) c.953C= (p.Ala318=) c.767C= (p.Ala256=) c.605C= (p.Ala202=) c.914C= (p.Ala305=) c.749C= (p.Ala250=) c.998C= (p.Ala333=) c.812C= (p.Ala271=) n.929C= | |
| 13 | g.113118518C>G | CA388785976 | F7 | c.845C>G (p.Ala282Gly) c.911C>G (p.Ala304Gly) c.659C>G (p.Ala220Gly) n.932C>G c.704C>G (p.Ala235Gly) c.953C>G (p.Ala318Gly) c.767C>G (p.Ala256Gly) c.605C>G (p.Ala202Gly) c.914C>G (p.Ala305Gly) c.749C>G (p.Ala250Gly) c.998C>G (p.Ala333Gly) c.812C>G (p.Ala271Gly) n.929C>G | |
| 13 | g.113118518C>T | CA7060164 | F7 | c.845C>T (p.Ala282Val) c.911C>T (p.Ala304Val) c.659C>T (p.Ala220Val) n.932C>T c.704C>T (p.Ala235Val) c.953C>T (p.Ala318Val) c.767C>T (p.Ala256Val) c.605C>T (p.Ala202Val) c.914C>T (p.Ala305Val) c.749C>T (p.Ala250Val) c.998C>T (p.Ala333Val) c.812C>T (p.Ala271Val) n.929C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.113118519G>A | CA7060165 | F7 | c.846G>A (p.Ala282=) c.912G>A (p.Ala304=) c.660G>A (p.Ala220=) n.933G>A c.705G>A (p.Ala235=) c.954G>A (p.Ala318=) c.768G>A (p.Ala256=) c.606G>A (p.Ala202=) c.915G>A (p.Ala305=) c.750G>A (p.Ala250=) c.999G>A (p.Ala333=) c.813G>A (p.Ala271=) n.930G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 13 | g.113118519G>C | CA7060166 | F7 | c.846G>C (p.Ala282=) c.912G>C (p.Ala304=) c.660G>C (p.Ala220=) n.933G>C c.705G>C (p.Ala235=) c.954G>C (p.Ala318=) c.768G>C (p.Ala256=) c.606G>C (p.Ala202=) c.915G>C (p.Ala305=) c.750G>C (p.Ala250=) c.999G>C (p.Ala333=) c.813G>C (p.Ala271=) n.930G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.113118519G= | CA2120142002 | F7 | c.846G= (p.Ala282=) c.912G= (p.Ala304=) c.660G= (p.Ala220=) n.933G= c.705G= (p.Ala235=) c.954G= (p.Ala318=) c.768G= (p.Ala256=) c.606G= (p.Ala202=) c.915G= (p.Ala305=) c.750G= (p.Ala250=) c.999G= (p.Ala333=) c.813G= (p.Ala271=) n.930G= | |
| 13 | g.113118519G>T | CA485423872 | F7 | c.846G>T (p.Ala282=) c.912G>T (p.Ala304=) c.660G>T (p.Ala220=) n.933G>T c.705G>T (p.Ala235=) c.954G>T (p.Ala318=) c.768G>T (p.Ala256=) c.606G>T (p.Ala202=) c.915G>T (p.Ala305=) c.750G>T (p.Ala250=) c.999G>T (p.Ala333=) c.813G>T (p.Ala271=) n.930G>T | |
| 13 | g.113118520C>A | CA388785977 | F7 | c.847C>A (p.Leu283Met) c.913C>A (p.Leu305Met) c.661C>A (p.Leu221Met) n.934C>A c.706C>A (p.Leu236Met) c.955C>A (p.Leu319Met) c.769C>A (p.Leu257Met) c.607C>A (p.Leu203Met) c.916C>A (p.Leu306Met) c.751C>A (p.Leu251Met) c.1000C>A (p.Leu334Met) c.814C>A (p.Leu272Met) n.931C>A | gnomAD v4 |
| 13 | g.113118520C>G | CA388785978 | F7 | c.847C>G (p.Leu283Val) c.913C>G (p.Leu305Val) c.661C>G (p.Leu221Val) n.934C>G c.706C>G (p.Leu236Val) c.955C>G (p.Leu319Val) c.769C>G (p.Leu257Val) c.607C>G (p.Leu203Val) c.916C>G (p.Leu306Val) c.751C>G (p.Leu251Val) c.1000C>G (p.Leu334Val) c.814C>G (p.Leu272Val) n.931C>G | |
| 13 | g.113118520C>T | CA485423873 | F7 | c.847C>T (p.Leu283=) c.913C>T (p.Leu305=) c.661C>T (p.Leu221=) n.934C>T c.706C>T (p.Leu236=) c.955C>T (p.Leu319=) c.769C>T (p.Leu257=) c.607C>T (p.Leu203=) c.916C>T (p.Leu306=) c.751C>T (p.Leu251=) c.1000C>T (p.Leu334=) c.814C>T (p.Leu272=) n.931C>T | |
| 13 | g.113118521T>A | CA388785981 | F7 | c.848T>A (p.Leu283Gln) c.914T>A (p.Leu305Gln) c.662T>A (p.Leu221Gln) n.935T>A c.707T>A (p.Leu236Gln) c.956T>A (p.Leu319Gln) c.770T>A (p.Leu257Gln) c.608T>A (p.Leu203Gln) c.917T>A (p.Leu306Gln) c.752T>A (p.Leu251Gln) c.1001T>A (p.Leu334Gln) c.815T>A (p.Leu272Gln) n.932T>A | |
| 13 | g.113118521T>C | CA388785980 | F7 | c.848T>C (p.Leu283Pro) c.914T>C (p.Leu305Pro) c.662T>C (p.Leu221Pro) n.935T>C c.707T>C (p.Leu236Pro) c.956T>C (p.Leu319Pro) c.770T>C (p.Leu257Pro) c.608T>C (p.Leu203Pro) c.917T>C (p.Leu306Pro) c.752T>C (p.Leu251Pro) c.1001T>C (p.Leu334Pro) c.815T>C (p.Leu272Pro) n.932T>C | |
| 13 | g.113118521T>G | CA388785979 | F7 | c.848T>G (p.Leu283Arg) c.914T>G (p.Leu305Arg) c.662T>G (p.Leu221Arg) n.935T>G c.707T>G (p.Leu236Arg) c.956T>G (p.Leu319Arg) c.770T>G (p.Leu257Arg) c.608T>G (p.Leu203Arg) c.917T>G (p.Leu306Arg) c.752T>G (p.Leu251Arg) c.1001T>G (p.Leu334Arg) c.815T>G (p.Leu272Arg) n.932T>G | |
| 13 | g.113118522G>A | CA485423874 | F7 | c.849G>A (p.Leu283=) c.915G>A (p.Leu305=) c.663G>A (p.Leu221=) n.936G>A c.708G>A (p.Leu236=) c.957G>A (p.Leu319=) c.771G>A (p.Leu257=) c.609G>A (p.Leu203=) c.918G>A (p.Leu306=) c.753G>A (p.Leu251=) c.1002G>A (p.Leu334=) c.816G>A (p.Leu272=) n.933G>A | |
| 13 | g.113118522G>C | CA485423875 | F7 | c.849G>C (p.Leu283=) c.915G>C (p.Leu305=) c.663G>C (p.Leu221=) n.936G>C c.708G>C (p.Leu236=) c.957G>C (p.Leu319=) c.771G>C (p.Leu257=) c.609G>C (p.Leu203=) c.918G>C (p.Leu306=) c.753G>C (p.Leu251=) c.1002G>C (p.Leu334=) c.816G>C (p.Leu272=) n.933G>C | |
| 13 | g.113118522G>T | CA485423876 | F7 | c.849G>T (p.Leu283=) c.915G>T (p.Leu305=) c.663G>T (p.Leu221=) n.936G>T c.708G>T (p.Leu236=) c.957G>T (p.Leu319=) c.771G>T (p.Leu257=) c.609G>T (p.Leu203=) c.918G>T (p.Leu306=) c.753G>T (p.Leu251=) c.1002G>T (p.Leu334=) c.816G>T (p.Leu272=) n.933G>T | |
| 13 | g.113118523C>A | CA388785982 | F7 | c.850C>A (p.Leu284Ile) c.916C>A (p.Leu306Ile) c.664C>A (p.Leu222Ile) n.937C>A c.709C>A (p.Leu237Ile) c.958C>A (p.Leu320Ile) c.772C>A (p.Leu258Ile) c.610C>A (p.Leu204Ile) c.919C>A (p.Leu307Ile) c.754C>A (p.Leu252Ile) c.1003C>A (p.Leu335Ile) c.817C>A (p.Leu273Ile) n.934C>A | |
| 13 | g.113118523C= | CA2120142004 | F7 | c.850C= (p.Leu284=) c.916C= (p.Leu306=) c.664C= (p.Leu222=) n.937C= c.709C= (p.Leu237=) c.958C= (p.Leu320=) c.772C= (p.Leu258=) c.610C= (p.Leu204=) c.919C= (p.Leu307=) c.754C= (p.Leu252=) c.1003C= (p.Leu335=) c.817C= (p.Leu273=) n.934C= | |
| 13 | g.113118523C>G | CA388785983 | F7 | c.850C>G (p.Leu284Val) c.916C>G (p.Leu306Val) c.664C>G (p.Leu222Val) n.937C>G c.709C>G (p.Leu237Val) c.958C>G (p.Leu320Val) c.772C>G (p.Leu258Val) c.610C>G (p.Leu204Val) c.919C>G (p.Leu307Val) c.754C>G (p.Leu252Val) c.1003C>G (p.Leu335Val) c.817C>G (p.Leu273Val) n.934C>G | |
| 13 | g.113118523C>T | CA256461537 | F7 | c.850C>T (p.Leu284Phe) c.916C>T (p.Leu306Phe) c.664C>T (p.Leu222Phe) n.937C>T c.709C>T (p.Leu237Phe) c.958C>T (p.Leu320Phe) c.772C>T (p.Leu258Phe) c.610C>T (p.Leu204Phe) c.919C>T (p.Leu307Phe) c.754C>T (p.Leu252Phe) c.1003C>T (p.Leu335Phe) c.817C>T (p.Leu273Phe) n.934C>T | dbSNP gnomAD v4 |
| 13 | g.113118524T>A | CA388785984 | F7 | c.851T>A (p.Leu284His) c.917T>A (p.Leu306His) c.665T>A (p.Leu222His) n.938T>A c.710T>A (p.Leu237His) c.959T>A (p.Leu320His) c.773T>A (p.Leu258His) c.611T>A (p.Leu204His) c.920T>A (p.Leu307His) c.755T>A (p.Leu252His) c.1004T>A (p.Leu335His) c.818T>A (p.Leu273His) n.935T>A | |
| 13 | g.113118524T>C | CA388785985 | F7 | c.851T>C (p.Leu284Pro) c.917T>C (p.Leu306Pro) c.665T>C (p.Leu222Pro) n.938T>C c.710T>C (p.Leu237Pro) c.959T>C (p.Leu320Pro) c.773T>C (p.Leu258Pro) c.611T>C (p.Leu204Pro) c.920T>C (p.Leu307Pro) c.755T>C (p.Leu252Pro) c.1004T>C (p.Leu335Pro) c.818T>C (p.Leu273Pro) n.935T>C | |
| 13 | g.113118524T>G | CA388785986 | F7 | c.851T>G (p.Leu284Arg) c.917T>G (p.Leu306Arg) c.665T>G (p.Leu222Arg) n.938T>G c.710T>G (p.Leu237Arg) c.959T>G (p.Leu320Arg) c.773T>G (p.Leu258Arg) c.611T>G (p.Leu204Arg) c.920T>G (p.Leu307Arg) c.755T>G (p.Leu252Arg) c.1004T>G (p.Leu335Arg) c.818T>G (p.Leu273Arg) n.935T>G | |
| 13 | g.113118525C>A | CA485423877 | F7 | c.852C>A (p.Leu284=) c.918C>A (p.Leu306=) c.666C>A (p.Leu222=) n.939C>A c.711C>A (p.Leu237=) c.960C>A (p.Leu320=) c.774C>A (p.Leu258=) c.612C>A (p.Leu204=) c.921C>A (p.Leu307=) c.756C>A (p.Leu252=) c.1005C>A (p.Leu335=) c.819C>A (p.Leu273=) n.936C>A | |
| 13 | g.113118525C>G | CA485423879 | F7 | c.852C>G (p.Leu284=) c.918C>G (p.Leu306=) c.666C>G (p.Leu222=) n.939C>G c.711C>G (p.Leu237=) c.960C>G (p.Leu320=) c.774C>G (p.Leu258=) c.612C>G (p.Leu204=) c.921C>G (p.Leu307=) c.756C>G (p.Leu252=) c.1005C>G (p.Leu335=) c.819C>G (p.Leu273=) n.936C>G | gnomAD v4 |
| 13 | g.113118525C>T | CA485423878 | F7 | c.852C>T (p.Leu284=) c.918C>T (p.Leu306=) c.666C>T (p.Leu222=) n.939C>T c.711C>T (p.Leu237=) c.960C>T (p.Leu320=) c.774C>T (p.Leu258=) c.612C>T (p.Leu204=) c.921C>T (p.Leu307=) c.756C>T (p.Leu252=) c.1005C>T (p.Leu335=) c.819C>T (p.Leu273=) n.936C>T | |
| 13 | g.113118526C>A | CA388785987 | F7 | c.853C>A (p.Arg285Ser) c.919C>A (p.Arg307Ser) c.667C>A (p.Arg223Ser) n.940C>A c.712C>A (p.Arg238Ser) c.961C>A (p.Arg321Ser) c.775C>A (p.Arg259Ser) c.613C>A (p.Arg205Ser) c.922C>A (p.Arg308Ser) c.757C>A (p.Arg253Ser) c.1006C>A (p.Arg336Ser) c.820C>A (p.Arg274Ser) n.937C>A | |
| 13 | g.113118526C= | CA2120142007 | F7 | c.853C= (p.Arg285=) c.919C= (p.Arg307=) c.667C= (p.Arg223=) n.940C= c.712C= (p.Arg238=) c.961C= (p.Arg321=) c.775C= (p.Arg259=) c.613C= (p.Arg205=) c.922C= (p.Arg308=) c.757C= (p.Arg253=) c.1006C= (p.Arg336=) c.820C= (p.Arg274=) n.937C= | |
| 13 | g.113118526C>G | CA388785988 | F7 | c.853C>G (p.Arg285Gly) c.919C>G (p.Arg307Gly) c.667C>G (p.Arg223Gly) n.940C>G c.712C>G (p.Arg238Gly) c.961C>G (p.Arg321Gly) c.775C>G (p.Arg259Gly) c.613C>G (p.Arg205Gly) c.922C>G (p.Arg308Gly) c.757C>G (p.Arg253Gly) c.1006C>G (p.Arg336Gly) c.820C>G (p.Arg274Gly) n.937C>G | |
| 13 | g.113118526C>T | CA7060167 | F7 | c.853C>T (p.Arg285Cys) c.919C>T (p.Arg307Cys) c.667C>T (p.Arg223Cys) n.940C>T c.712C>T (p.Arg238Cys) c.961C>T (p.Arg321Cys) c.775C>T (p.Arg259Cys) c.613C>T (p.Arg205Cys) c.922C>T (p.Arg308Cys) c.757C>T (p.Arg253Cys) c.1006C>T (p.Arg336Cys) c.820C>T (p.Arg274Cys) n.937C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.113118527G>A | CA7060168 | F7 | c.854G>A (p.Arg285His) c.920G>A (p.Arg307His) c.668G>A (p.Arg223His) n.941G>A c.713G>A (p.Arg238His) c.962G>A (p.Arg321His) c.776G>A (p.Arg259His) c.614G>A (p.Arg205His) c.923G>A (p.Arg308His) c.758G>A (p.Arg253His) c.1007G>A (p.Arg336His) c.821G>A (p.Arg274His) n.938G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.113118527G>C | CA388785990 | F7 | c.854G>C (p.Arg285Pro) c.920G>C (p.Arg307Pro) c.668G>C (p.Arg223Pro) n.941G>C c.713G>C (p.Arg238Pro) c.962G>C (p.Arg321Pro) c.776G>C (p.Arg259Pro) c.614G>C (p.Arg205Pro) c.923G>C (p.Arg308Pro) c.758G>C (p.Arg253Pro) c.1007G>C (p.Arg336Pro) c.821G>C (p.Arg274Pro) n.938G>C | |
| 13 | g.113118527G= | CA2120142011 | F7 | c.854G= (p.Arg285=) c.920G= (p.Arg307=) c.668G= (p.Arg223=) n.941G= c.713G= (p.Arg238=) c.962G= (p.Arg321=) c.776G= (p.Arg259=) c.614G= (p.Arg205=) c.923G= (p.Arg308=) c.758G= (p.Arg253=) c.1007G= (p.Arg336=) c.821G= (p.Arg274=) n.938G= | |
| 13 | g.113118527G>T | CA388785989 | F7 | c.854G>T (p.Arg285Leu) c.920G>T (p.Arg307Leu) c.668G>T (p.Arg223Leu) n.941G>T c.713G>T (p.Arg238Leu) c.962G>T (p.Arg321Leu) c.776G>T (p.Arg259Leu) c.614G>T (p.Arg205Leu) c.923G>T (p.Arg308Leu) c.758G>T (p.Arg253Leu) c.1007G>T (p.Arg336Leu) c.821G>T (p.Arg274Leu) n.938G>T | gnomAD v4 |
| 13 | g.113118528C>A | CA485423882 | F7 | c.855C>A (p.Arg285=) c.921C>A (p.Arg307=) c.669C>A (p.Arg223=) n.942C>A c.714C>A (p.Arg238=) c.963C>A (p.Arg321=) c.777C>A (p.Arg259=) c.615C>A (p.Arg205=) c.924C>A (p.Arg308=) c.759C>A (p.Arg253=) c.1008C>A (p.Arg336=) c.822C>A (p.Arg274=) n.939C>A | |
| 13 | g.113118528C>G | CA485423881 | F7 | c.855C>G (p.Arg285=) c.921C>G (p.Arg307=) c.669C>G (p.Arg223=) n.942C>G c.714C>G (p.Arg238=) c.963C>G (p.Arg321=) c.777C>G (p.Arg259=) c.615C>G (p.Arg205=) c.924C>G (p.Arg308=) c.759C>G (p.Arg253=) c.1008C>G (p.Arg336=) c.822C>G (p.Arg274=) n.939C>G | |
| 13 | g.113118528C>T | CA485423880 | F7 | c.855C>T (p.Arg285=) c.921C>T (p.Arg307=) c.669C>T (p.Arg223=) n.942C>T c.714C>T (p.Arg238=) c.963C>T (p.Arg321=) c.777C>T (p.Arg259=) c.615C>T (p.Arg205=) c.924C>T (p.Arg308=) c.759C>T (p.Arg253=) c.1008C>T (p.Arg336=) c.822C>T (p.Arg274=) n.939C>T | |
| 13 | g.113118529C>A | CA388785991 | F7 | c.856C>A (p.Leu286Met) c.922C>A (p.Leu308Met) c.670C>A (p.Leu224Met) n.943C>A c.715C>A (p.Leu239Met) c.964C>A (p.Leu322Met) c.778C>A (p.Leu260Met) c.616C>A (p.Leu206Met) c.925C>A (p.Leu309Met) c.760C>A (p.Leu254Met) c.1009C>A (p.Leu337Met) c.823C>A (p.Leu275Met) n.940C>A | |
| 13 | g.113118529C= | CA2120142016 | F7 | c.856C= (p.Leu286=) c.922C= (p.Leu308=) c.670C= (p.Leu224=) n.943C= c.715C= (p.Leu239=) c.964C= (p.Leu322=) c.778C= (p.Leu260=) c.616C= (p.Leu206=) c.925C= (p.Leu309=) c.760C= (p.Leu254=) c.1009C= (p.Leu337=) c.823C= (p.Leu275=) n.940C= | |
| 13 | g.113118529C>G | CA388785992 | F7 | c.856C>G (p.Leu286Val) c.922C>G (p.Leu308Val) c.670C>G (p.Leu224Val) n.943C>G c.715C>G (p.Leu239Val) c.964C>G (p.Leu322Val) c.778C>G (p.Leu260Val) c.616C>G (p.Leu206Val) c.925C>G (p.Leu309Val) c.760C>G (p.Leu254Val) c.1009C>G (p.Leu337Val) c.823C>G (p.Leu275Val) n.940C>G | |
| 13 | g.113118529C>T | CA485423883 | F7 | c.856C>T (p.Leu286=) c.922C>T (p.Leu308=) c.670C>T (p.Leu224=) n.943C>T c.715C>T (p.Leu239=) c.964C>T (p.Leu322=) c.778C>T (p.Leu260=) c.616C>T (p.Leu206=) c.925C>T (p.Leu309=) c.760C>T (p.Leu254=) c.1009C>T (p.Leu337=) c.823C>T (p.Leu275=) n.940C>T | dbSNP |
| 13 | g.113118530T>A | CA388785993 | F7 | c.857T>A (p.Leu286Gln) c.923T>A (p.Leu308Gln) c.671T>A (p.Leu224Gln) n.944T>A c.716T>A (p.Leu239Gln) c.965T>A (p.Leu322Gln) c.779T>A (p.Leu260Gln) c.617T>A (p.Leu206Gln) c.926T>A (p.Leu309Gln) c.761T>A (p.Leu254Gln) c.1010T>A (p.Leu337Gln) c.824T>A (p.Leu275Gln) n.941T>A | gnomAD v4 |
| 13 | g.113118530T>C | CA388785994 | F7 | c.857T>C (p.Leu286Pro) c.923T>C (p.Leu308Pro) c.671T>C (p.Leu224Pro) n.944T>C c.716T>C (p.Leu239Pro) c.965T>C (p.Leu322Pro) c.779T>C (p.Leu260Pro) c.617T>C (p.Leu206Pro) c.926T>C (p.Leu309Pro) c.761T>C (p.Leu254Pro) c.1010T>C (p.Leu337Pro) c.824T>C (p.Leu275Pro) n.941T>C | ClinVar dbSNP |
| 13 | g.113118530T>G | CA388785995 | F7 | c.857T>G (p.Leu286Arg) c.923T>G (p.Leu308Arg) c.671T>G (p.Leu224Arg) n.944T>G c.716T>G (p.Leu239Arg) c.965T>G (p.Leu322Arg) c.779T>G (p.Leu260Arg) c.617T>G (p.Leu206Arg) c.926T>G (p.Leu309Arg) c.761T>G (p.Leu254Arg) c.1010T>G (p.Leu337Arg) c.824T>G (p.Leu275Arg) n.941T>G | |
| 13 | g.113118531G>A | CA485423886 | F7 | c.858G>A (p.Leu286=) c.924G>A (p.Leu308=) c.672G>A (p.Leu224=) n.945G>A c.717G>A (p.Leu239=) c.966G>A (p.Leu322=) c.780G>A (p.Leu260=) c.618G>A (p.Leu206=) c.927G>A (p.Leu309=) c.762G>A (p.Leu254=) c.1011G>A (p.Leu337=) c.825G>A (p.Leu275=) n.942G>A | dbSNP gnomAD v4 |
| 13 | g.113118531G>C | CA485423885 | F7 | c.858G>C (p.Leu286=) c.924G>C (p.Leu308=) c.672G>C (p.Leu224=) n.945G>C c.717G>C (p.Leu239=) c.966G>C (p.Leu322=) c.780G>C (p.Leu260=) c.618G>C (p.Leu206=) c.927G>C (p.Leu309=) c.762G>C (p.Leu254=) c.1011G>C (p.Leu337=) c.825G>C (p.Leu275=) n.942G>C | |
| 13 | g.113118531G= | CA2120142018 | F7 | c.858G= (p.Leu286=) c.924G= (p.Leu308=) c.672G= (p.Leu224=) n.945G= c.717G= (p.Leu239=) c.966G= (p.Leu322=) c.780G= (p.Leu260=) c.618G= (p.Leu206=) c.927G= (p.Leu309=) c.762G= (p.Leu254=) c.1011G= (p.Leu337=) c.825G= (p.Leu275=) n.942G= | |
| 13 | g.113118531G>T | CA485423884 | F7 | c.858G>T (p.Leu286=) c.924G>T (p.Leu308=) c.672G>T (p.Leu224=) n.945G>T c.717G>T (p.Leu239=) c.966G>T (p.Leu322=) c.780G>T (p.Leu260=) c.618G>T (p.Leu206=) c.927G>T (p.Leu309=) c.762G>T (p.Leu254=) c.1011G>T (p.Leu337=) c.825G>T (p.Leu275=) n.942G>T | |
| 13 | g.113118532C>A | CA388785996 | F7 | c.859C>A (p.His287Asn) c.925C>A (p.His309Asn) c.673C>A (p.His225Asn) n.946C>A c.718C>A (p.His240Asn) c.967C>A (p.His323Asn) c.781C>A (p.His261Asn) c.619C>A (p.His207Asn) c.928C>A (p.His310Asn) c.763C>A (p.His255Asn) c.1012C>A (p.His338Asn) c.826C>A (p.His276Asn) n.943C>A |