Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.155294534_155294558del | CA2648269318 | PKLR | c.890_914del (p.Val297AspfsTer16) c.797_821del (p.Val266AspfsTer16) c.1049_1073del (p.Val350AspfsTer16) c.698_722del (p.Val233AspfsTer16) | gnomAD v4 |
1 | g.155294542C>A | CA342753937 | PKLR | c.905G>T (p.Gly302Val) c.812G>T (p.Gly271Val) c.1064G>T (p.Gly355Val) c.713G>T (p.Gly238Val) | |
1 | g.155294542C= | CA1200112203 | PKLR | c.905G= (p.Gly302=) c.812G= (p.Gly271=) c.1064G= (p.Gly355=) c.713G= (p.Gly238=) | |
1 | g.155294542C>G | CA342753939 | PKLR | c.905G>C (p.Gly302Ala) c.812G>C (p.Gly271Ala) c.1064G>C (p.Gly355Ala) c.713G>C (p.Gly238Ala) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.155294542C>T | CA342753940 | PKLR | c.905G>A (p.Gly302Asp) c.812G>A (p.Gly271Asp) c.1064G>A (p.Gly355Asp) c.713G>A (p.Gly238Asp) | gnomAD v4 |
1 | g.155294543C>A | CA342753943 | PKLR | c.904G>T (p.Gly302Cys) c.811G>T (p.Gly271Cys) c.1063G>T (p.Gly355Cys) c.712G>T (p.Gly238Cys) | |
1 | g.155294543C>G | CA342753945 | PKLR | c.904G>C (p.Gly302Arg) c.811G>C (p.Gly271Arg) c.1063G>C (p.Gly355Arg) c.712G>C (p.Gly238Arg) | |
1 | g.155294543C>T | CA342753946 | PKLR | c.904G>A (p.Gly302Ser) c.811G>A (p.Gly271Ser) c.1063G>A (p.Gly355Ser) c.712G>A (p.Gly238Ser) | |
1 | g.155294544C>A | CA421245545 | PKLR | c.903G>T (p.Leu301=) c.810G>T (p.Leu270=) c.1062G>T (p.Leu354=) c.711G>T (p.Leu237=) | |
1 | g.155294544C= | CA1200112204 | PKLR | c.903G= (p.Leu301=) c.810G= (p.Leu270=) c.1062G= (p.Leu354=) c.711G= (p.Leu237=) | |
1 | g.155294544C>G | CA421245546 | PKLR | c.903G>C (p.Leu301=) c.810G>C (p.Leu270=) c.1062G>C (p.Leu354=) c.711G>C (p.Leu237=) | gnomAD v4 |
1 | g.155294544C>T | CA1144184 | PKLR | c.903G>A (p.Leu301=) c.810G>A (p.Leu270=) c.1062G>A (p.Leu354=) c.711G>A (p.Leu237=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.155294545A>C | CA342753953 | PKLR | c.902T>G (p.Leu301Arg) c.809T>G (p.Leu270Arg) c.1061T>G (p.Leu354Arg) c.710T>G (p.Leu237Arg) | |
1 | g.155294545A>G | CA342753955 | PKLR | c.902T>C (p.Leu301Pro) c.809T>C (p.Leu270Pro) c.1061T>C (p.Leu354Pro) c.710T>C (p.Leu237Pro) | COSMIC |
1 | g.155294545A>T | CA342753951 | PKLR | c.902T>A (p.Leu301Gln) c.809T>A (p.Leu270Gln) c.1061T>A (p.Leu354Gln) c.710T>A (p.Leu237Gln) | |
1 | g.155294546G>A | CA421245549 | PKLR | c.901C>T (p.Leu301=) c.808C>T (p.Leu270=) c.1060C>T (p.Leu354=) c.709C>T (p.Leu237=) | |
1 | g.155294546G>C | CA342753957 | PKLR | c.901C>G (p.Leu301Val) c.808C>G (p.Leu270Val) c.1060C>G (p.Leu354Val) c.709C>G (p.Leu237Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.155294546G= | CA1200112205 | PKLR | c.901C= (p.Leu301=) c.808C= (p.Leu270=) c.1060C= (p.Leu354=) c.709C= (p.Leu237=) | |
1 | g.155294546G>T | CA342753959 | PKLR | c.901C>A (p.Leu301Met) c.808C>A (p.Leu270Met) c.1060C>A (p.Leu354Met) c.709C>A (p.Leu237Met) | |
1 | g.155294547A>C | CA421245551 | PKLR | c.900T>G (p.Ala300=) c.807T>G (p.Ala269=) c.1059T>G (p.Ala353=) c.708T>G (p.Ala236=) | |
1 | g.155294547A>G | CA421245552 | PKLR | c.900T>C (p.Ala300=) c.807T>C (p.Ala269=) c.1059T>C (p.Ala353=) c.708T>C (p.Ala236=) | |
1 | g.155294547A>T | CA421245553 | PKLR | c.900T>A (p.Ala300=) c.807T>A (p.Ala269=) c.1059T>A (p.Ala353=) c.708T>A (p.Ala236=) | |
1 | g.155294548G>A | CA342753961 | PKLR | c.899C>T (p.Ala300Val) c.806C>T (p.Ala269Val) c.1058C>T (p.Ala353Val) c.707C>T (p.Ala236Val) | |
1 | g.155294548G>C | CA342753963 | PKLR | c.899C>G (p.Ala300Gly) c.806C>G (p.Ala269Gly) c.1058C>G (p.Ala353Gly) c.707C>G (p.Ala236Gly) | |
1 | g.155294548G>T | CA342753965 | PKLR | c.899C>A (p.Ala300Asp) c.806C>A (p.Ala269Asp) c.1058C>A (p.Ala353Asp) c.707C>A (p.Ala236Asp) | |
1 | g.155294549C>A | CA342753971 | PKLR | c.898G>T (p.Ala300Ser) c.805G>T (p.Ala269Ser) c.1057G>T (p.Ala353Ser) c.706G>T (p.Ala236Ser) | |
1 | g.155294549C>G | CA342753967 | PKLR | c.898G>C (p.Ala300Pro) c.805G>C (p.Ala269Pro) c.1057G>C (p.Ala353Pro) c.706G>C (p.Ala236Pro) | |
1 | g.155294549C>T | CA342753969 | PKLR | c.898G>A (p.Ala300Thr) c.805G>A (p.Ala269Thr) c.1057G>A (p.Ala353Thr) c.706G>A (p.Ala236Thr) | |
1 | g.155294550A>C | CA421245556 | PKLR | c.897T>G (p.Ala299=) c.804T>G (p.Ala268=) c.1056T>G (p.Ala352=) c.705T>G (p.Ala235=) | |
1 | g.155294550A>G | CA421245557 | PKLR | c.897T>C (p.Ala299=) c.804T>C (p.Ala268=) c.1056T>C (p.Ala352=) c.705T>C (p.Ala235=) | |
1 | g.155294550A>T | CA421245554 | PKLR | c.897T>A (p.Ala299=) c.804T>A (p.Ala268=) c.1056T>A (p.Ala352=) c.705T>A (p.Ala235=) | |
1 | g.155294551G>A | CA342753973 | PKLR | c.896C>T (p.Ala299Val) c.803C>T (p.Ala268Val) c.1055C>T (p.Ala352Val) c.704C>T (p.Ala235Val) | gnomAD v4 |
1 | g.155294551G>C | CA342753975 | PKLR | c.896C>G (p.Ala299Gly) c.803C>G (p.Ala268Gly) c.1055C>G (p.Ala352Gly) c.704C>G (p.Ala235Gly) | |
1 | g.155294551G= | CA1200112206 | PKLR | c.896C= (p.Ala299=) c.803C= (p.Ala268=) c.1055C= (p.Ala352=) c.704C= (p.Ala235=) | |
1 | g.155294551G>T | CA1144185 | PKLR | c.896C>A (p.Ala299Asp) c.803C>A (p.Ala268Asp) c.1055C>A (p.Ala352Asp) c.704C>A (p.Ala235Asp) | dbSNP ExAC gnomAD v2 |
1 | g.155294552C>A | CA342753979 | PKLR | c.895G>T (p.Ala299Ser) c.802G>T (p.Ala268Ser) c.1054G>T (p.Ala352Ser) c.703G>T (p.Ala235Ser) | |
1 | g.155294552C>G | CA342753981 | PKLR | c.895G>C (p.Ala299Pro) c.802G>C (p.Ala268Pro) c.1054G>C (p.Ala352Pro) c.703G>C (p.Ala235Pro) | |
1 | g.155294552C>T | CA342753982 | PKLR | c.895G>A (p.Ala299Thr) c.802G>A (p.Ala268Thr) c.1054G>A (p.Ala352Thr) c.703G>A (p.Ala235Thr) | |
1 | g.155294553C>A | CA342753985 | PKLR | c.894G>T (p.Arg298Ser) c.801G>T (p.Arg267Ser) c.1053G>T (p.Arg351Ser) c.702G>T (p.Arg234Ser) | |
1 | g.155294553C>G | CA342753987 | PKLR | c.894G>C (p.Arg298Ser) c.801G>C (p.Arg267Ser) c.1053G>C (p.Arg351Ser) c.702G>C (p.Arg234Ser) | |
1 | g.155294553C>T | CA421245560 | PKLR | c.894G>A (p.Arg298=) c.801G>A (p.Arg267=) c.1053G>A (p.Arg351=) c.702G>A (p.Arg234=) | COSMIC |
1 | g.155294554C>A | CA342753989 | PKLR | c.893G>T (p.Arg298Met) c.800G>T (p.Arg267Met) c.1052G>T (p.Arg351Met) c.701G>T (p.Arg234Met) | |
1 | g.155294554C>G | CA342753992 | PKLR | c.893G>C (p.Arg298Thr) c.800G>C (p.Arg267Thr) c.1052G>C (p.Arg351Thr) c.701G>C (p.Arg234Thr) | |
1 | g.155294554C>T | CA342753990 | PKLR | c.893G>A (p.Arg298Lys) c.800G>A (p.Arg267Lys) c.1052G>A (p.Arg351Lys) c.701G>A (p.Arg234Lys) | |
1 | g.155294555T>A | CA342753993 | PKLR | c.892A>T (p.Arg298Trp) c.799A>T (p.Arg267Trp) c.1051A>T (p.Arg351Trp) c.700A>T (p.Arg234Trp) | |
1 | g.155294555T>C | CA342753996 | PKLR | c.892A>G (p.Arg298Gly) c.799A>G (p.Arg267Gly) c.1051A>G (p.Arg351Gly) c.700A>G (p.Arg234Gly) | |
1 | g.155294555T>G | CA421245562 | PKLR | c.892A>C (p.Arg298=) c.799A>C (p.Arg267=) c.1051A>C (p.Arg351=) c.700A>C (p.Arg234=) | |
1 | g.155294556G>A | CA421245563 | PKLR | c.891C>T (p.Val297=) c.798C>T (p.Val266=) c.1050C>T (p.Val350=) c.699C>T (p.Val233=) | |
1 | g.155294556G>C | CA421245565 | PKLR | c.891C>G (p.Val297=) c.798C>G (p.Val266=) c.1050C>G (p.Val350=) c.699C>G (p.Val233=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.155294556G= | CA1200112207 | PKLR | c.891C= (p.Val297=) c.798C= (p.Val266=) c.1050C= (p.Val350=) c.699C= (p.Val233=) | |
1 | g.155294556G>T | CA421245564 | PKLR | c.891C>A (p.Val297=) c.798C>A (p.Val266=) c.1050C>A (p.Val350=) c.699C>A (p.Val233=) | COSMIC |
1 | g.155294557A>C | CA342753998 | PKLR | c.890T>G (p.Val297Gly) c.797T>G (p.Val266Gly) c.1049T>G (p.Val350Gly) c.698T>G (p.Val233Gly) | |
1 | g.155294557A>G | CA342753999 | PKLR | c.890T>C (p.Val297Ala) c.797T>C (p.Val266Ala) c.1049T>C (p.Val350Ala) c.698T>C (p.Val233Ala) | |
1 | g.155294557A>T | CA342754000 | PKLR | c.890T>A (p.Val297Asp) c.797T>A (p.Val266Asp) c.1049T>A (p.Val350Asp) c.698T>A (p.Val233Asp) | |
1 | g.155294558C>A | CA342754003 | PKLR | c.889G>T (p.Val297Phe) c.796G>T (p.Val266Phe) c.1048G>T (p.Val350Phe) c.697G>T (p.Val233Phe) | COSMIC |
1 | g.155294558C= | CA1142240281 | PKLR | c.889G= (p.Val297=) c.796G= (p.Val266=) c.1048G= (p.Val350=) c.697G= (p.Val233=) | |
1 | g.155294558C>G | CA1144187 | PKLR | c.889G>C (p.Val297Leu) c.796G>C (p.Val266Leu) c.1048G>C (p.Val350Leu) c.697G>C (p.Val233Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.155294558C>T | CA1144186 | PKLR | c.889G>A (p.Val297Ile) c.796G>A (p.Val266Ile) c.1048G>A (p.Val350Ile) c.697G>A (p.Val233Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
1 | g.155294559G>A | CA421245566 | PKLR | c.888C>T (p.Ala296=) c.795C>T (p.Ala265=) c.1047C>T (p.Ala349=) c.696C>T (p.Ala232=) | gnomAD v4 |
1 | g.155294559G>C | CA421245567 | PKLR | c.888C>G (p.Ala296=) c.795C>G (p.Ala265=) c.1047C>G (p.Ala349=) c.696C>G (p.Ala232=) | |
1 | g.155294559G>T | CA421245568 | PKLR | c.888C>A (p.Ala296=) c.795C>A (p.Ala265=) c.1047C>A (p.Ala349=) c.696C>A (p.Ala232=) | gnomAD v4 COSMIC |
1 | g.155294560G>A | CA342754009 | PKLR | c.887C>T (p.Ala296Val) c.794C>T (p.Ala265Val) c.1046C>T (p.Ala349Val) c.695C>T (p.Ala232Val) | |
1 | g.155294560G>C | CA342754010 | PKLR | c.887C>G (p.Ala296Gly) c.794C>G (p.Ala265Gly) c.1046C>G (p.Ala349Gly) c.695C>G (p.Ala232Gly) | |
1 | g.155294560G= | CA1200112208 | PKLR | c.887C= (p.Ala296=) c.794C= (p.Ala265=) c.1046C= (p.Ala349=) c.695C= (p.Ala232=) | |
1 | g.155294560G>T | CA342754013 | PKLR | c.887C>A (p.Ala296Asp) c.794C>A (p.Ala265Asp) c.1046C>A (p.Ala349Asp) c.695C>A (p.Ala232Asp) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.155294561C>A | CA342754015 | PKLR | c.886G>T (p.Ala296Ser) c.793G>T (p.Ala265Ser) c.1045G>T (p.Ala349Ser) c.694G>T (p.Ala232Ser) | |
1 | g.155294561C>G | CA342754017 | PKLR | c.886G>C (p.Ala296Pro) c.793G>C (p.Ala265Pro) c.1045G>C (p.Ala349Pro) c.694G>C (p.Ala232Pro) | |
1 | g.155294561C>T | CA342754019 | PKLR | c.886G>A (p.Ala296Thr) c.793G>A (p.Ala265Thr) c.1045G>A (p.Ala349Thr) c.694G>A (p.Ala232Thr) | |
1 | g.155294562A>C | CA421245572 | PKLR | c.885T>G (p.Ala295=) c.792T>G (p.Ala264=) c.1044T>G (p.Ala348=) c.693T>G (p.Ala231=) | |
1 | g.155294562A>G | CA421245573 | PKLR | c.885T>C (p.Ala295=) c.792T>C (p.Ala264=) c.1044T>C (p.Ala348=) c.693T>C (p.Ala231=) | |
1 | g.155294562A>T | CA421245574 | PKLR | c.885T>A (p.Ala295=) c.792T>A (p.Ala264=) c.1044T>A (p.Ala348=) c.693T>A (p.Ala231=) | gnomAD v4 |
1 | g.155294563G>A | CA1144188 | PKLR | c.884C>T (p.Ala295Val) c.791C>T (p.Ala264Val) c.1043C>T (p.Ala348Val) c.692C>T (p.Ala231Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.155294563G>C | CA342754021 | PKLR | c.884C>G (p.Ala295Gly) c.791C>G (p.Ala264Gly) c.1043C>G (p.Ala348Gly) c.692C>G (p.Ala231Gly) | |
1 | g.155294563G= | CA1200112209 | PKLR | c.884C= (p.Ala295=) c.791C= (p.Ala264=) c.1043C= (p.Ala348=) c.692C= (p.Ala231=) | |
1 | g.155294563G>T | CA342754023 | PKLR | c.884C>A (p.Ala295Asp) c.791C>A (p.Ala264Asp) c.1043C>A (p.Ala348Asp) c.692C>A (p.Ala231Asp) | |
1 | g.155294564C>A | CA342754026 | PKLR | c.883G>T (p.Ala295Ser) c.790G>T (p.Ala264Ser) c.1042G>T (p.Ala348Ser) c.691G>T (p.Ala231Ser) | |
1 | g.155294564C= | CA1200112210 | PKLR | c.883G= (p.Ala295=) c.790G= (p.Ala264=) c.1042G= (p.Ala348=) c.691G= (p.Ala231=) | |
1 | g.155294564C>G | CA342754029 | PKLR | c.883G>C (p.Ala295Pro) c.790G>C (p.Ala264Pro) c.1042G>C (p.Ala348Pro) c.691G>C (p.Ala231Pro) | |
1 | g.155294564C>T | CA1144189 | PKLR | c.883G>A (p.Ala295Thr) c.790G>A (p.Ala264Thr) c.1042G>A (p.Ala348Thr) c.691G>A (p.Ala231Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.155294565C>A | CA421245576 | PKLR | c.882G>T (p.Val294=) c.789G>T (p.Val263=) c.1041G>T (p.Val347=) c.690G>T (p.Val230=) | |
1 | g.155294565C>G | CA421245577 | PKLR | c.882G>C (p.Val294=) c.789G>C (p.Val263=) c.1041G>C (p.Val347=) c.690G>C (p.Val230=) | |
1 | g.155294565C>T | CA421245579 | PKLR | c.882G>A (p.Val294=) c.789G>A (p.Val263=) c.1041G>A (p.Val347=) c.690G>A (p.Val230=) | |
1 | g.155294566A>C | CA342754032 | PKLR | c.881T>G (p.Val294Gly) c.788T>G (p.Val263Gly) c.1040T>G (p.Val347Gly) c.689T>G (p.Val230Gly) | |
1 | g.155294566A>G | CA342754034 | PKLR | c.881T>C (p.Val294Ala) c.788T>C (p.Val263Ala) c.1040T>C (p.Val347Ala) c.689T>C (p.Val230Ala) | |
1 | g.155294566A>T | CA342754036 | PKLR | c.881T>A (p.Val294Glu) c.788T>A (p.Val263Glu) c.1040T>A (p.Val347Glu) c.689T>A (p.Val230Glu) | |
1 | g.155294567C>A | CA1144190 | PKLR | c.880G>T (p.Val294Leu) c.787G>T (p.Val263Leu) c.1039G>T (p.Val347Leu) c.688G>T (p.Val230Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.155294567C= | CA1200112211 | PKLR | c.880G= (p.Val294=) c.787G= (p.Val263=) c.1039G= (p.Val347=) c.688G= (p.Val230=) | |
1 | g.155294567C>G | CA30903252 | PKLR | c.880G>C (p.Val294Leu) c.787G>C (p.Val263Leu) c.1039G>C (p.Val347Leu) c.688G>C (p.Val230Leu) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
1 | g.155294567C>T | CA342754040 | PKLR | c.880G>A (p.Val294Met) c.787G>A (p.Val263Met) c.1039G>A (p.Val347Met) c.688G>A (p.Val230Met) | gnomAD v4 |
1 | g.155294568G>A | CA421245581 | PKLR | c.879C>T (p.Asp293=) c.786C>T (p.Asp262=) c.1038C>T (p.Asp346=) c.687C>T (p.Asp229=) | gnomAD v4 |
1 | g.155294568G>C | CA342754042 | PKLR | c.879C>G (p.Asp293Glu) c.786C>G (p.Asp262Glu) c.1038C>G (p.Asp346Glu) c.687C>G (p.Asp229Glu) | ClinVar |
1 | g.155294568G>T | CA342754044 | PKLR | c.879C>A (p.Asp293Glu) c.786C>A (p.Asp262Glu) c.1038C>A (p.Asp346Glu) c.687C>A (p.Asp229Glu) | |
1 | g.155294568dup | CA2842069200 | PKLR | c.879dup (p.Val294ArgfsTer22) c.786dup (p.Val263ArgfsTer22) c.1038dup (p.Val347ArgfsTer22) c.687dup (p.Val230ArgfsTer22) | |
1 | g.155294569T>A | CA342754050 | PKLR | c.878A>T (p.Asp293Val) c.785A>T (p.Asp262Val) c.1037A>T (p.Asp346Val) c.686A>T (p.Asp229Val) | |
1 | g.155294569T>C | CA342754049 | PKLR | c.878A>G (p.Asp293Gly) c.785A>G (p.Asp262Gly) c.1037A>G (p.Asp346Gly) c.686A>G (p.Asp229Gly) | |
1 | g.155294569T>G | CA342754046 | PKLR | c.878A>C (p.Asp293Ala) c.785A>C (p.Asp262Ala) c.1037A>C (p.Asp346Ala) c.686A>C (p.Asp229Ala) | |
1 | g.155294570C>A | CA342754053 | PKLR | c.877G>T (p.Asp293Tyr) c.784G>T (p.Asp262Tyr) c.1036G>T (p.Asp346Tyr) c.685G>T (p.Asp229Tyr) | gnomAD v4 |
1 | g.155294570C= | CA1200112212 | PKLR | c.877G= (p.Asp293=) c.784G= (p.Asp262=) c.1036G= (p.Asp346=) c.685G= (p.Asp229=) | |
1 | g.155294570C>G | CA342754055 | PKLR | c.877G>C (p.Asp293His) c.784G>C (p.Asp262His) c.1036G>C (p.Asp346His) c.685G>C (p.Asp229His) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.155294570C>T | CA342754056 | PKLR | c.877G>A (p.Asp293Asn) c.784G>A (p.Asp262Asn) c.1036G>A (p.Asp346Asn) c.685G>A (p.Asp229Asn) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.155294571G>A | CA421245585 | PKLR | c.876C>T (p.Ser292=) c.783C>T (p.Ser261=) c.1035C>T (p.Ser345=) c.684C>T (p.Ser228=) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
1 | g.155294571G>C | CA342754059 | PKLR | c.876C>G (p.Ser292Arg) c.783C>G (p.Ser261Arg) c.1035C>G (p.Ser345Arg) c.684C>G (p.Ser228Arg) | |
1 | g.155294571G= | CA1200112213 | PKLR | c.876C= (p.Ser292=) c.783C= (p.Ser261=) c.1035C= (p.Ser345=) c.684C= (p.Ser228=) | |
1 | g.155294571G>T | CA342754061 | PKLR | c.876C>A (p.Ser292Arg) c.783C>A (p.Ser261Arg) c.1035C>A (p.Ser345Arg) c.684C>A (p.Ser228Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.155294572C>A | CA342754067 | PKLR | c.875G>T (p.Ser292Ile) c.782G>T (p.Ser261Ile) c.1034G>T (p.Ser345Ile) c.683G>T (p.Ser228Ile) | |
1 | g.155294572C>G | CA342754065 | PKLR | c.875G>C (p.Ser292Thr) c.782G>C (p.Ser261Thr) c.1034G>C (p.Ser345Thr) c.683G>C (p.Ser228Thr) | |
1 | g.155294572C>T | CA342754064 | PKLR | c.875G>A (p.Ser292Asn) c.782G>A (p.Ser261Asn) c.1034G>A (p.Ser345Asn) c.683G>A (p.Ser228Asn) | dbSNP |
1 | g.155294573T>A | CA30903254 | PKLR | c.874A>T (p.Ser292Cys) c.781A>T (p.Ser261Cys) c.1033A>T (p.Ser345Cys) c.682A>T (p.Ser228Cys) | dbSNP |
1 | g.155294573T>C | CA342754071 | PKLR | c.874A>G (p.Ser292Gly) c.781A>G (p.Ser261Gly) c.1033A>G (p.Ser345Gly) c.682A>G (p.Ser228Gly) | dbSNP gnomAD v4 |
1 | g.155294573T>G | CA342754073 | PKLR | c.874A>C (p.Ser292Arg) c.781A>C (p.Ser261Arg) c.1033A>C (p.Ser345Arg) c.682A>C (p.Ser228Arg) | |
1 | g.155294573T= | CA1149127913 | PKLR | c.874A= (p.Ser292=) c.781A= (p.Ser261=) c.1033A= (p.Ser345=) c.682A= (p.Ser228=) | |
1 | g.155294574G>A | CA421245587 | PKLR | c.873C>T (p.Ala291=) c.780C>T (p.Ala260=) c.1032C>T (p.Ala344=) c.681C>T (p.Ala227=) | |
1 | g.155294574G>C | CA421245589 | PKLR | c.873C>G (p.Ala291=) c.780C>G (p.Ala260=) c.1032C>G (p.Ala344=) c.681C>G (p.Ala227=) | |
1 | g.155294574G>T | CA421245588 | PKLR | c.873C>A (p.Ala291=) c.780C>A (p.Ala260=) c.1032C>A (p.Ala344=) c.681C>A (p.Ala227=) | |
1 | g.155294575G>A | CA342754076 | PKLR | c.872C>T (p.Ala291Val) c.779C>T (p.Ala260Val) c.1031C>T (p.Ala344Val) c.680C>T (p.Ala227Val) | |
1 | g.155294575G>C | CA342754078 | PKLR | c.872C>G (p.Ala291Gly) c.779C>G (p.Ala260Gly) c.1031C>G (p.Ala344Gly) c.680C>G (p.Ala227Gly) | |
1 | g.155294575G>T | CA342754079 | PKLR | c.872C>A (p.Ala291Asp) c.779C>A (p.Ala260Asp) c.1031C>A (p.Ala344Asp) c.680C>A (p.Ala227Asp) | |
1 | g.155294576C>A | CA342754083 | PKLR | c.871G>T (p.Ala291Ser) c.778G>T (p.Ala260Ser) c.1030G>T (p.Ala344Ser) c.679G>T (p.Ala227Ser) | |
1 | g.155294576C>G | CA342754086 | PKLR | c.871G>C (p.Ala291Pro) c.778G>C (p.Ala260Pro) c.1030G>C (p.Ala344Pro) c.679G>C (p.Ala227Pro) | |
1 | g.155294576C>T | CA342754084 | PKLR | c.871G>A (p.Ala291Thr) c.778G>A (p.Ala260Thr) c.1030G>A (p.Ala344Thr) c.679G>A (p.Ala227Thr) | |
1 | g.155294577T>A | CA342754089 | PKLR | c.870A>T (p.Lys290Asn) c.777A>T (p.Lys259Asn) c.1029A>T (p.Lys343Asn) c.678A>T (p.Lys226Asn) | |
1 | g.155294577T>C | CA421245592 | PKLR | c.870A>G (p.Lys290=) c.777A>G (p.Lys259=) c.1029A>G (p.Lys343=) c.678A>G (p.Lys226=) | dbSNP |
1 | g.155294577T>G | CA342754090 | PKLR | c.870A>C (p.Lys290Asn) c.777A>C (p.Lys259Asn) c.1029A>C (p.Lys343Asn) c.678A>C (p.Lys226Asn) | gnomAD v4 |
1 | g.155294577T= | CA1200112214 | PKLR | c.870A= (p.Lys290=) c.777A= (p.Lys259=) c.1029A= (p.Lys343=) c.678A= (p.Lys226=) | |
1 | g.155294578T>A | CA342754093 | PKLR | c.869A>T (p.Lys290Ile) c.776A>T (p.Lys259Ile) c.1028A>T (p.Lys343Ile) c.677A>T (p.Lys226Ile) | |
1 | g.155294578T>C | CA30903255 | PKLR | c.869A>G (p.Lys290Arg) c.776A>G (p.Lys259Arg) c.1028A>G (p.Lys343Arg) c.677A>G (p.Lys226Arg) | dbSNP |
1 | g.155294578T>G | CA342754096 | PKLR | c.869A>C (p.Lys290Thr) c.776A>C (p.Lys259Thr) c.1028A>C (p.Lys343Thr) c.677A>C (p.Lys226Thr) | |
1 | g.155294578T= | CA1200112215 | PKLR | c.869A= (p.Lys290=) c.776A= (p.Lys259=) c.1028A= (p.Lys343=) c.677A= (p.Lys226=) | |
1 | g.155294579T>A | CA342754097 | PKLR | c.868A>T (p.Lys290Ter) c.775A>T (p.Lys259Ter) c.1027A>T (p.Lys343Ter) c.676A>T (p.Lys226Ter) | |
1 | g.155294579T>C | CA342754098 | PKLR | c.868A>G (p.Lys290Glu) c.775A>G (p.Lys259Glu) c.1027A>G (p.Lys343Glu) c.676A>G (p.Lys226Glu) | |
1 | g.155294579T>G | CA342754100 | PKLR | c.868A>C (p.Lys290Gln) c.775A>C (p.Lys259Gln) c.1027A>C (p.Lys343Gln) c.676A>C (p.Lys226Gln) | |
1 | g.155294580C>A | CA421245594 | PKLR | c.867G>T (p.Arg289=) c.774G>T (p.Arg258=) c.1026G>T (p.Arg342=) c.675G>T (p.Arg225=) | |
1 | g.155294580C>G | CA421245596 | PKLR | c.867G>C (p.Arg289=) c.774G>C (p.Arg258=) c.1026G>C (p.Arg342=) c.675G>C (p.Arg225=) | |
1 | g.155294580C>T | CA421245598 | PKLR | c.867G>A (p.Arg289=) c.774G>A (p.Arg258=) c.1026G>A (p.Arg342=) c.675G>A (p.Arg225=) | |
1 | g.155294581C>A | CA342754103 | PKLR | c.866G>T (p.Arg289Leu) c.773G>T (p.Arg258Leu) c.1025G>T (p.Arg342Leu) c.674G>T (p.Arg225Leu) | COSMIC |
1 | g.155294581C= | CA1149134989 | PKLR | c.866G= (p.Arg289=) c.773G= (p.Arg258=) c.1025G= (p.Arg342=) c.674G= (p.Arg225=) | |
1 | g.155294581C>G | CA342754105 | PKLR | c.866G>C (p.Arg289Pro) c.773G>C (p.Arg258Pro) c.1025G>C (p.Arg342Pro) c.674G>C (p.Arg225Pro) | |
1 | g.155294581C>T | CA1144191 | PKLR | c.866G>A (p.Arg289Gln) c.773G>A (p.Arg258Gln) c.1025G>A (p.Arg342Gln) c.674G>A (p.Arg225Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.155294582G>A | CA342754107 | PKLR | c.865C>T (p.Arg289Trp) c.772C>T (p.Arg258Trp) c.1024C>T (p.Arg342Trp) c.673C>T (p.Arg225Trp) | |
1 | g.155294582G>C | CA342754109 | PKLR | c.865C>G (p.Arg289Gly) c.772C>G (p.Arg258Gly) c.1024C>G (p.Arg342Gly) c.673C>G (p.Arg225Gly) | |
1 | g.155294582G>T | CA421245601 | PKLR | c.865C>A (p.Arg289=) c.772C>A (p.Arg258=) c.1024C>A (p.Arg342=) c.673C>A (p.Arg225=) | dbSNP gnomAD v4 |
1 | g.155294583C>A | CA421245602 | PKLR | c.864G>T (p.Val288=) c.771G>T (p.Val257=) c.1023G>T (p.Val341=) c.672G>T (p.Val224=) | |
1 | g.155294583C>G | CA421245603 | PKLR | c.864G>C (p.Val288=) c.771G>C (p.Val257=) c.1023G>C (p.Val341=) c.672G>C (p.Val224=) | |
1 | g.155294583C>T | CA421245604 | PKLR | c.864G>A (p.Val288=) c.771G>A (p.Val257=) c.1023G>A (p.Val341=) c.672G>A (p.Val224=) | |
1 | g.155294584A>C | CA342754112 | PKLR | c.863T>G (p.Val288Gly) c.770T>G (p.Val257Gly) c.1022T>G (p.Val341Gly) c.671T>G (p.Val224Gly) | |
1 | g.155294584A>G | CA342754115 | PKLR | c.863T>C (p.Val288Ala) c.770T>C (p.Val257Ala) c.1022T>C (p.Val341Ala) c.671T>C (p.Val224Ala) | gnomAD v4 |
1 | g.155294584A>T | CA342754113 | PKLR | c.863T>A (p.Val288Glu) c.770T>A (p.Val257Glu) c.1022T>A (p.Val341Glu) c.671T>A (p.Val224Glu) | |
1 | g.155294585C>A | CA342754118 | PKLR | c.862G>T (p.Val288Leu) c.769G>T (p.Val257Leu) c.1021G>T (p.Val341Leu) c.670G>T (p.Val224Leu) | gnomAD v4 |
1 | g.155294585C>G | CA342754120 | PKLR | c.862G>C (p.Val288Leu) c.769G>C (p.Val257Leu) c.1021G>C (p.Val341Leu) c.670G>C (p.Val224Leu) | |
1 | g.155294585C>T | CA342754122 | PKLR | c.862G>A (p.Val288Met) c.769G>A (p.Val257Met) c.1021G>A (p.Val341Met) c.670G>A (p.Val224Met) | gnomAD v4 |
1 | g.155294586A>C | CA342754124 | PKLR | c.861T>G (p.Phe287Leu) c.768T>G (p.Phe256Leu) c.1020T>G (p.Phe340Leu) c.669T>G (p.Phe223Leu) | |
1 | g.155294586A>G | CA421245607 | PKLR | c.861T>C (p.Phe287=) c.768T>C (p.Phe256=) c.1020T>C (p.Phe340=) c.669T>C (p.Phe223=) | |
1 | g.155294586A>T | CA342754126 | PKLR | c.861T>A (p.Phe287Leu) c.768T>A (p.Phe256Leu) c.1020T>A (p.Phe340Leu) c.669T>A (p.Phe223Leu) | |
1 | g.155294587A>C | CA342754128 | PKLR | c.860T>G (p.Phe287Cys) c.767T>G (p.Phe256Cys) c.1019T>G (p.Phe340Cys) c.668T>G (p.Phe223Cys) | |
1 | g.155294587A>G | CA342754130 | PKLR | c.860T>C (p.Phe287Ser) c.767T>C (p.Phe256Ser) c.1019T>C (p.Phe340Ser) c.668T>C (p.Phe223Ser) | |
1 | g.155294587A>T | CA342754132 | PKLR | c.860T>A (p.Phe287Tyr) c.767T>A (p.Phe256Tyr) c.1019T>A (p.Phe340Tyr) c.668T>A (p.Phe223Tyr) | |
1 | g.155294588A>C | CA342754134 | PKLR | c.859T>G (p.Phe287Val) c.766T>G (p.Phe256Val) c.1018T>G (p.Phe340Val) c.667T>G (p.Phe223Val) | |
1 | g.155294588A>G | CA342754137 | PKLR | c.859T>C (p.Phe287Leu) c.766T>C (p.Phe256Leu) c.1018T>C (p.Phe340Leu) c.667T>C (p.Phe223Leu) | |
1 | g.155294588A>T | CA342754138 | PKLR | c.859T>A (p.Phe287Ile) c.766T>A (p.Phe256Ile) c.1018T>A (p.Phe340Ile) c.667T>A (p.Phe223Ile) | |
1 | g.155294589G>A | CA421245609 | PKLR | c.858C>T (p.Ser286=) c.765C>T (p.Ser255=) c.1017C>T (p.Ser339=) c.666C>T (p.Ser222=) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.155294589G>C | CA421245610 | PKLR | c.858C>G (p.Ser286=) c.765C>G (p.Ser255=) c.1017C>G (p.Ser339=) c.666C>G (p.Ser222=) | |
1 | g.155294589G= | CA1142370442 | PKLR | c.858C= (p.Ser286=) c.765C= (p.Ser255=) c.1017C= (p.Ser339=) c.666C= (p.Ser222=) | |
1 | g.155294589G>T | CA1144192 | PKLR | c.858C>A (p.Ser286=) c.765C>A (p.Ser255=) c.1017C>A (p.Ser339=) c.666C>A (p.Ser222=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.155294590G>A | CA342754144 | PKLR | c.857C>T (p.Ser286Phe) c.764C>T (p.Ser255Phe) c.1016C>T (p.Ser339Phe) c.665C>T (p.Ser222Phe) | |
1 | g.155294590G>C | CA342754141 | PKLR | c.857C>G (p.Ser286Cys) c.764C>G (p.Ser255Cys) c.1016C>G (p.Ser339Cys) c.665C>G (p.Ser222Cys) | gnomAD v4 |
1 | g.155294590G>T | CA342754143 | PKLR | c.857C>A (p.Ser286Tyr) c.764C>A (p.Ser255Tyr) c.1016C>A (p.Ser339Tyr) c.665C>A (p.Ser222Tyr) | |
1 | g.155294591A>C | CA342754147 | PKLR | c.856T>G (p.Ser286Ala) c.763T>G (p.Ser255Ala) c.1015T>G (p.Ser339Ala) c.664T>G (p.Ser222Ala) | |
1 | g.155294591A>G | CA342754148 | PKLR | c.856T>C (p.Ser286Pro) c.763T>C (p.Ser255Pro) c.1015T>C (p.Ser339Pro) c.664T>C (p.Ser222Pro) | gnomAD v4 |
1 | g.155294591A>T | CA342754150 | PKLR | c.856T>A (p.Ser286Thr) c.763T>A (p.Ser255Thr) c.1015T>A (p.Ser339Thr) c.664T>A (p.Ser222Thr) | |
1 | g.155294592G>A | CA421245617 | PKLR | c.855C>T (p.Ala285=) c.762C>T (p.Ala254=) c.1014C>T (p.Ala338=) c.663C>T (p.Ala221=) | |
1 | g.155294592G>C | CA421245618 | PKLR | c.855C>G (p.Ala285=) c.762C>G (p.Ala254=) c.1014C>G (p.Ala338=) c.663C>G (p.Ala221=) | |
1 | g.155294592G>T | CA421245619 | PKLR | c.855C>A (p.Ala285=) c.762C>A (p.Ala254=) c.1014C>A (p.Ala338=) c.663C>A (p.Ala221=) | |
1 | g.155294593G>A | CA342754152 | PKLR | c.854C>T (p.Ala285Val) c.761C>T (p.Ala254Val) c.1013C>T (p.Ala338Val) c.662C>T (p.Ala221Val) | |
1 | g.155294593G>C | CA342754154 | PKLR | c.854C>G (p.Ala285Gly) c.761C>G (p.Ala254Gly) c.1013C>G (p.Ala338Gly) c.662C>G (p.Ala221Gly) | |
1 | g.155294593G>T | CA342754156 | PKLR | c.854C>A (p.Ala285Asp) c.761C>A (p.Ala254Asp) c.1013C>A (p.Ala338Asp) c.662C>A (p.Ala221Asp) | |
1 | g.155294594C>A | CA342754158 | PKLR | c.853G>T (p.Ala285Ser) c.760G>T (p.Ala254Ser) c.1012G>T (p.Ala338Ser) c.661G>T (p.Ala221Ser) | |
1 | g.155294594C>G | CA342754160 | PKLR | c.853G>C (p.Ala285Pro) c.760G>C (p.Ala254Pro) c.1012G>C (p.Ala338Pro) c.661G>C (p.Ala221Pro) | |
1 | g.155294594C>T | CA342754162 | PKLR | c.853G>A (p.Ala285Thr) c.760G>A (p.Ala254Thr) c.1012G>A (p.Ala338Thr) c.661G>A (p.Ala221Thr) | |
1 | g.155294595A>C | CA342754164 | PKLR | c.852T>G (p.Phe284Leu) c.759T>G (p.Phe253Leu) c.1011T>G (p.Phe337Leu) c.660T>G (p.Phe220Leu) | |
1 | g.155294595A>G | CA421245624 | PKLR | c.852T>C (p.Phe284=) c.759T>C (p.Phe253=) c.1011T>C (p.Phe337=) c.660T>C (p.Phe220=) | gnomAD v4 |
1 | g.155294595A>T | CA342754166 | PKLR | c.852T>A (p.Phe284Leu) c.759T>A (p.Phe253Leu) c.1011T>A (p.Phe337Leu) c.660T>A (p.Phe220Leu) | |
1 | g.155294596A>C | CA342754173 | PKLR | c.851T>G (p.Phe284Cys) c.758T>G (p.Phe253Cys) c.1010T>G (p.Phe337Cys) c.659T>G (p.Phe220Cys) | |
1 | g.155294596A>G | CA342754171 | PKLR | c.851T>C (p.Phe284Ser) c.758T>C (p.Phe253Ser) c.1010T>C (p.Phe337Ser) c.659T>C (p.Phe220Ser) | |
1 | g.155294596A>T | CA342754169 | PKLR | c.851T>A (p.Phe284Tyr) c.758T>A (p.Phe253Tyr) c.1010T>A (p.Phe337Tyr) c.659T>A (p.Phe220Tyr) | |
1 | g.155294597A>C | CA342754176 | PKLR | c.850T>G (p.Phe284Val) c.757T>G (p.Phe253Val) c.1009T>G (p.Phe337Val) c.658T>G (p.Phe220Val) | |
1 | g.155294597A>G | CA342754178 | PKLR | c.850T>C (p.Phe284Leu) c.757T>C (p.Phe253Leu) c.1009T>C (p.Phe337Leu) c.658T>C (p.Phe220Leu) | |
1 | g.155294597A>T | CA342754179 | PKLR | c.850T>A (p.Phe284Ile) c.757T>A (p.Phe253Ile) c.1009T>A (p.Phe337Ile) c.658T>A (p.Phe220Ile) | |
1 | g.155294598G>A | CA421245627 | PKLR | c.849C>T (p.Val283=) c.756C>T (p.Val252=) c.1008C>T (p.Val336=) c.657C>T (p.Val219=) | |
1 | g.155294598G>C | CA421245626 | PKLR | c.849C>G (p.Val283=) c.756C>G (p.Val252=) c.1008C>G (p.Val336=) c.657C>G (p.Val219=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.155294598G= | CA1200112216 | PKLR | c.849C= (p.Val283=) c.756C= (p.Val252=) c.1008C= (p.Val336=) c.657C= (p.Val219=) | |
1 | g.155294598G>T | CA421245625 | PKLR | c.849C>A (p.Val283=) c.756C>A (p.Val252=) c.1008C>A (p.Val336=) c.657C>A (p.Val219=) | |
1 | g.155294599A= | CA1200112217 | PKLR | c.848T= (p.Val283=) c.755T= (p.Val252=) c.1007T= (p.Val336=) c.656T= (p.Val219=) | |
1 | g.155294599A>C | CA342754182 | PKLR | c.848T>G (p.Val283Gly) c.755T>G (p.Val252Gly) c.1007T>G (p.Val336Gly) c.656T>G (p.Val219Gly) | gnomAD v4 |
1 | g.155294599A>G | CA342754184 | PKLR | c.848T>C (p.Val283Ala) c.755T>C (p.Val252Ala) c.1007T>C (p.Val336Ala) c.656T>C (p.Val219Ala) | gnomAD v4 |
1 | g.155294599A>T | CA342754186 | PKLR | c.848T>A (p.Val283Asp) c.755T>A (p.Val252Asp) c.1007T>A (p.Val336Asp) c.656T>A (p.Val219Asp) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.155294600C>A | CA342754192 | PKLR | c.847G>T (p.Val283Phe) c.754G>T (p.Val252Phe) c.1006G>T (p.Val336Phe) c.655G>T (p.Val219Phe) | |
1 | g.155294600C= | CA1200112218 | PKLR | c.847G= (p.Val283=) c.754G= (p.Val252=) c.1006G= (p.Val336=) c.655G= (p.Val219=) | |
1 | g.155294600C>G | CA342754188 | PKLR | c.847G>C (p.Val283Leu) c.754G>C (p.Val252Leu) c.1006G>C (p.Val336Leu) c.655G>C (p.Val219Leu) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.155294600C>T | CA342754190 | PKLR | c.847G>A (p.Val283Ile) c.754G>A (p.Val252Ile) c.1006G>A (p.Val336Ile) c.655G>A (p.Val219Ile) | gnomAD v4 |
1 | g.155294600_155294601delinsCG | CA1200112219 | PKLR | c.846_847delinsCG (p.Ile282=) c.753_754delinsCG (p.Ile251=) c.1005_1006delinsCG (p.Ile335=) c.654_655delinsCG (p.Ile218=) | |
1 | g.155294601del | CA1144193 | PKLR | c.846del (p.Ile282MetfsTer?) c.753del (p.Ile251MetfsTer?) c.1005del (p.Ile335MetfsTer?) c.654del (p.Ile218MetfsTer?) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.155294601G>A | CA421245630 | PKLR | c.846C>T (p.Ile282=) c.753C>T (p.Ile251=) c.1005C>T (p.Ile335=) c.654C>T (p.Ile218=) | |
1 | g.155294601G>C | CA30903276 | PKLR | c.846C>G (p.Ile282Met) c.753C>G (p.Ile251Met) c.1005C>G (p.Ile335Met) c.654C>G (p.Ile218Met) | dbSNP gnomAD v4 |
1 | g.155294601G= | CA1200112220 | PKLR | c.846C= (p.Ile282=) c.753C= (p.Ile251=) c.1005C= (p.Ile335=) c.654C= (p.Ile218=) | |
1 | g.155294601G>T | CA421245629 | PKLR | c.846C>A (p.Ile282=) c.753C>A (p.Ile251=) c.1005C>A (p.Ile335=) c.654C>A (p.Ile218=) | |
1 | g.155294602A>C | CA342754197 | PKLR | c.845T>G (p.Ile282Ser) c.752T>G (p.Ile251Ser) c.1004T>G (p.Ile335Ser) c.653T>G (p.Ile218Ser) | |
1 | g.155294602A>G | CA342754199 | PKLR | c.845T>C (p.Ile282Thr) c.752T>C (p.Ile251Thr) c.1004T>C (p.Ile335Thr) c.653T>C (p.Ile218Thr) | gnomAD v4 |
1 | g.155294602A>T | CA342754200 | PKLR | c.845T>A (p.Ile282Asn) c.752T>A (p.Ile251Asn) c.1004T>A (p.Ile335Asn) c.653T>A (p.Ile218Asn) | |
1 | g.155294603T>A | CA342754203 | PKLR | c.844A>T (p.Ile282Phe) c.751A>T (p.Ile251Phe) c.1003A>T (p.Ile335Phe) c.652A>T (p.Ile218Phe) | ClinVar |
1 | g.155294603T>C | CA342754206 | PKLR | c.844A>G (p.Ile282Val) c.751A>G (p.Ile251Val) c.1003A>G (p.Ile335Val) c.652A>G (p.Ile218Val) | gnomAD v4 |
1 | g.155294603T>G | CA342754205 | PKLR | c.844A>C (p.Ile282Leu) c.751A>C (p.Ile251Leu) c.1003A>C (p.Ile335Leu) c.652A>C (p.Ile218Leu) | |
1 | g.155294604G>A | CA421245634 | PKLR | c.843C>T (p.Asp281=) c.750C>T (p.Asp250=) c.1002C>T (p.Asp334=) c.651C>T (p.Asp217=) | gnomAD v4 |
1 | g.155294604G>C | CA342754209 | PKLR | c.843C>G (p.Asp281Glu) c.750C>G (p.Asp250Glu) c.1002C>G (p.Asp334Glu) c.651C>G (p.Asp217Glu) | |
1 | g.155294604G>T | CA342754210 | PKLR | c.843C>A (p.Asp281Glu) c.750C>A (p.Asp250Glu) c.1002C>A (p.Asp334Glu) c.651C>A (p.Asp217Glu) | gnomAD v4 |
1 | g.155294605T>A | CA342754212 | PKLR | c.842A>T (p.Asp281Val) c.749A>T (p.Asp250Val) c.1001A>T (p.Asp334Val) c.650A>T (p.Asp217Val) | |
1 | g.155294605T>C | CA342754214 | PKLR | c.842A>G (p.Asp281Gly) c.749A>G (p.Asp250Gly) c.1001A>G (p.Asp334Gly) c.650A>G (p.Asp217Gly) | |
1 | g.155294605T>G | CA342754216 | PKLR | c.842A>C (p.Asp281Ala) c.749A>C (p.Asp250Ala) c.1001A>C (p.Asp334Ala) c.650A>C (p.Asp217Ala) | |
1 | g.155294613_155294624del | CA2746213714 | PKLR | c.831_842del (p.Glu277_Val280del) c.738_749del (p.Glu246_Val249del) c.990_1001del (p.Glu330_Val333del) c.639_650del (p.Glu213_Val216del) | |
1 | g.155294606C>A | CA342754218 | PKLR | c.841G>T (p.Asp281Tyr) c.748G>T (p.Asp250Tyr) c.1000G>T (p.Asp334Tyr) c.649G>T (p.Asp217Tyr) | |
1 | g.155294606C= | CA1200112221 | PKLR | c.841G= (p.Asp281=) c.748G= (p.Asp250=) c.1000G= (p.Asp334=) c.649G= (p.Asp217=) | |
1 | g.155294606C>G | CA342754220 | PKLR | c.841G>C (p.Asp281His) c.748G>C (p.Asp250His) c.1000G>C (p.Asp334His) c.649G>C (p.Asp217His) | |
1 | g.155294606C>T | CA342754222 | PKLR | c.841G>A (p.Asp281Asn) c.748G>A (p.Asp250Asn) c.1000G>A (p.Asp334Asn) c.649G>A (p.Asp217Asn) | dbSNP gnomAD v4 COSMIC |
1 | g.155294607C>A | CA421245638 | PKLR | c.840G>T (p.Val280=) c.747G>T (p.Val249=) c.999G>T (p.Val333=) c.648G>T (p.Val216=) | |
1 | g.155294607C>G | CA421245639 | PKLR | c.840G>C (p.Val280=) c.747G>C (p.Val249=) c.999G>C (p.Val333=) c.648G>C (p.Val216=) | |
1 | g.155294607C>T | CA421245640 | PKLR | c.840G>A (p.Val280=) c.747G>A (p.Val249=) c.999G>A (p.Val333=) c.648G>A (p.Val216=) | |
1 | g.155294608A= | CA1200112222 | PKLR | c.839T= (p.Val280=) c.746T= (p.Val249=) c.998T= (p.Val333=) c.647T= (p.Val216=) | |
1 | g.155294608A>C | CA342754224 | PKLR | c.839T>G (p.Val280Gly) c.746T>G (p.Val249Gly) c.998T>G (p.Val333Gly) c.647T>G (p.Val216Gly) | dbSNP |
1 | g.155294608A>G | CA342754225 | PKLR | c.839T>C (p.Val280Ala) c.746T>C (p.Val249Ala) c.998T>C (p.Val333Ala) c.647T>C (p.Val216Ala) | |
1 | g.155294608A>T | CA342754227 | PKLR | c.839T>A (p.Val280Glu) c.746T>A (p.Val249Glu) c.998T>A (p.Val333Glu) c.647T>A (p.Val216Glu) | |
1 | g.155294609C>A | CA342754233 | PKLR | c.838G>T (p.Val280Leu) c.745G>T (p.Val249Leu) c.997G>T (p.Val333Leu) c.646G>T (p.Val216Leu) | |
1 | g.155294609C= | CA1200112223 | PKLR | c.838G= (p.Val280=) c.745G= (p.Val249=) c.997G= (p.Val333=) c.646G= (p.Val216=) | |
1 | g.155294609C>G | CA342754232 | PKLR | c.838G>C (p.Val280Leu) c.745G>C (p.Val249Leu) c.997G>C (p.Val333Leu) c.646G>C (p.Val216Leu) | |
1 | g.155294609C>T | CA342754230 | PKLR | c.838G>A (p.Val280Met) c.745G>A (p.Val249Met) c.997G>A (p.Val333Met) c.646G>A (p.Val216Met) | dbSNP gnomAD v4 |
1 | g.155294610C>A | CA421245647 | PKLR | c.837G>T (p.Gly279=) c.744G>T (p.Gly248=) c.996G>T (p.Gly332=) c.645G>T (p.Gly215=) | |
1 | g.155294610C= | CA1200112224 | PKLR | c.837G= (p.Gly279=) c.744G= (p.Gly248=) c.996G= (p.Gly332=) c.645G= (p.Gly215=) | |
1 | g.155294610C>G | CA1144194 | PKLR | c.837G>C (p.Gly279=) c.744G>C (p.Gly248=) c.996G>C (p.Gly332=) c.645G>C (p.Gly215=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.155294610C>T | CA421245648 | PKLR | c.837G>A (p.Gly279=) c.744G>A (p.Gly248=) c.996G>A (p.Gly332=) c.645G>A (p.Gly215=) | dbSNP gnomAD v4 |
1 | g.155294611C>A | CA30903282 | PKLR | c.836G>T (p.Gly279Val) c.743G>T (p.Gly248Val) c.995G>T (p.Gly332Val) c.644G>T (p.Gly215Val) | dbSNP |
1 | g.155294611C= | CA1200112225 | PKLR | c.836G= (p.Gly279=) c.743G= (p.Gly248=) c.995G= (p.Gly332=) c.644G= (p.Gly215=) | |
1 | g.155294611C>G | CA342754239 | PKLR | c.836G>C (p.Gly279Ala) c.743G>C (p.Gly248Ala) c.995G>C (p.Gly332Ala) c.644G>C (p.Gly215Ala) | |
1 | g.155294611C>T | CA1144195 | PKLR | c.836G>A (p.Gly279Glu) c.743G>A (p.Gly248Glu) c.995G>A (p.Gly332Glu) c.644G>A (p.Gly215Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.155294612C>A | CA342754242 | PKLR | c.835G>T (p.Gly279Trp) c.742G>T (p.Gly248Trp) c.994G>T (p.Gly332Trp) c.643G>T (p.Gly215Trp) | |
1 | g.155294612C= | CA1200112226 | PKLR | c.835G= (p.Gly279=) c.742G= (p.Gly248=) c.994G= (p.Gly332=) c.643G= (p.Gly215=) | |
1 | g.155294612C>G | CA342754244 | PKLR | c.835G>C (p.Gly279Arg) c.742G>C (p.Gly248Arg) c.994G>C (p.Gly332Arg) c.643G>C (p.Gly215Arg) | |
1 | g.155294612C>T | CA342754243 | PKLR | c.835G>A (p.Gly279Arg) c.742G>A (p.Gly248Arg) c.994G>A (p.Gly332Arg) c.643G>A (p.Gly215Arg) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.155294613A= | CA1200112227 | PKLR | c.834T= (p.His278=) c.741T= (p.His247=) c.993T= (p.His331=) c.642T= (p.His214=) | |
1 | g.155294613A>C | CA342754246 | PKLR | c.834T>G (p.His278Gln) c.741T>G (p.His247Gln) c.993T>G (p.His331Gln) c.642T>G (p.His214Gln) | |
1 | g.155294613A>G | CA1144196 | PKLR | c.834T>C (p.His278=) c.741T>C (p.His247=) c.993T>C (p.His331=) c.642T>C (p.His214=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.155294613A>T | CA342754248 | PKLR | c.834T>A (p.His278Gln) c.741T>A (p.His247Gln) c.993T>A (p.His331Gln) c.642T>A (p.His214Gln) | |
1 | g.155294614T>A | CA342754251 | PKLR | c.833A>T (p.His278Leu) c.740A>T (p.His247Leu) c.992A>T (p.His331Leu) c.641A>T (p.His214Leu) | gnomAD v4 |
1 | g.155294614T>C | CA342754253 | PKLR | c.833A>G (p.His278Arg) c.740A>G (p.His247Arg) c.992A>G (p.His331Arg) c.641A>G (p.His214Arg) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.155294614T>G | CA342754255 | PKLR | c.833A>C (p.His278Pro) c.740A>C (p.His247Pro) c.992A>C (p.His331Pro) c.641A>C (p.His214Pro) | |
1 | g.155294614T= | CA1200112228 | PKLR | c.833A= (p.His278=) c.740A= (p.His247=) c.992A= (p.His331=) c.641A= (p.His214=) | |
1 | g.155294615G>A | CA342754257 | PKLR | c.832C>T (p.His278Tyr) c.739C>T (p.His247Tyr) c.991C>T (p.His331Tyr) c.640C>T (p.His214Tyr) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.155294615G>C | CA342754260 | PKLR | c.832C>G (p.His278Asp) c.739C>G (p.His247Asp) c.991C>G (p.His331Asp) c.640C>G (p.His214Asp) | |
1 | g.155294615G= | CA1200112229 | PKLR | c.832C= (p.His278=) c.739C= (p.His247=) c.991C= (p.His331=) c.640C= (p.His214=) | |
1 | g.155294615G>T | CA342754261 | PKLR | c.832C>A (p.His278Asn) c.739C>A (p.His247Asn) c.991C>A (p.His331Asn) c.640C>A (p.His214Asn) | |
1 | g.155294616C>A | CA342754263 | PKLR | c.831G>T (p.Glu277Asp) c.738G>T (p.Glu246Asp) c.990G>T (p.Glu330Asp) c.639G>T (p.Glu213Asp) | |
1 | g.155294616C>G | CA342754264 | PKLR | c.831G>C (p.Glu277Asp) c.738G>C (p.Glu246Asp) c.990G>C (p.Glu330Asp) c.639G>C (p.Glu213Asp) | |
1 | g.155294616C>T | CA421245653 | PKLR | c.831G>A (p.Glu277=) c.738G>A (p.Glu246=) c.990G>A (p.Glu330=) c.639G>A (p.Glu213=) | gnomAD v4 |
1 | g.155294617T>A | CA342754265 | PKLR | c.830A>T (p.Glu277Val) c.737A>T (p.Glu246Val) c.989A>T (p.Glu330Val) c.638A>T (p.Glu213Val) | |
1 | g.155294617T>C | CA342754266 | PKLR | c.830A>G (p.Glu277Gly) c.737A>G (p.Glu246Gly) c.989A>G (p.Glu330Gly) c.638A>G (p.Glu213Gly) | |
1 | g.155294617T>G | CA342754267 | PKLR | c.830A>C (p.Glu277Ala) c.737A>C (p.Glu246Ala) c.989A>C (p.Glu330Ala) c.638A>C (p.Glu213Ala) | |
1 | g.155294618C>A | CA342754269 | PKLR | c.829G>T (p.Glu277Ter) c.736G>T (p.Glu246Ter) c.988G>T (p.Glu330Ter) c.637G>T (p.Glu213Ter) | ClinVar |
1 | g.155294618C= | CA1142193689 | PKLR | c.829G= (p.Glu277=) c.736G= (p.Glu246=) c.988G= (p.Glu330=) c.637G= (p.Glu213=) | |
1 | g.155294618C>G | CA342754268 | PKLR | c.829G>C (p.Glu277Gln) c.736G>C (p.Glu246Gln) c.988G>C (p.Glu330Gln) c.637G>C (p.Glu213Gln) | |
1 | g.155294618C>T | CA1144197 | PKLR | c.829G>A (p.Glu277Lys) c.736G>A (p.Glu246Lys) c.988G>A (p.Glu330Lys) c.637G>A (p.Glu213Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.155294619C>A | CA421245658 | PKLR | c.828G>T (p.Val276=) c.735G>T (p.Val245=) c.987G>T (p.Val329=) c.636G>T (p.Val212=) | |
1 | g.155294619C= | CA1200112230 | PKLR | c.828G= (p.Val276=) c.735G= (p.Val245=) c.987G= (p.Val329=) c.636G= (p.Val212=) | |
1 | g.155294619C>G | CA421245659 | PKLR | c.828G>C (p.Val276=) c.735G>C (p.Val245=) c.987G>C (p.Val329=) c.636G>C (p.Val212=) | |
1 | g.155294619C>T | CA421245660 | PKLR | c.828G>A (p.Val276=) c.735G>A (p.Val245=) c.987G>A (p.Val329=) c.636G>A (p.Val212=) | dbSNP |
1 | g.155294620A= | CA1200112232 | PKLR | c.827T= (p.Val276=) c.734T= (p.Val245=) c.986T= (p.Val329=) c.635T= (p.Val212=) | |
1 | g.155294620A>C | CA342754270 | PKLR | c.827T>G (p.Val276Gly) c.734T>G (p.Val245Gly) c.986T>G (p.Val329Gly) c.635T>G (p.Val212Gly) | |
1 | g.155294620A>G | CA342754271 | PKLR | c.827T>C (p.Val276Ala) c.734T>C (p.Val245Ala) c.986T>C (p.Val329Ala) c.635T>C (p.Val212Ala) | gnomAD v4 |
1 | g.155294620A>T | CA342754272 | PKLR | c.827T>A (p.Val276Glu) c.734T>A (p.Val245Glu) c.986T>A (p.Val329Glu) c.635T>A (p.Val212Glu) | dbSNP |
1 | g.155294620_155294621delinsAC | CA1200112231 | PKLR | c.826_827delinsGT (p.Val276=) c.733_734delinsGT (p.Val245=) c.985_986delinsGT (p.Val329=) c.634_635delinsGT (p.Val212=) | |
1 | g.155294621C>A | CA342754273 | PKLR | c.826G>T (p.Val276Leu) c.733G>T (p.Val245Leu) c.985G>T (p.Val329Leu) c.634G>T (p.Val212Leu) | |
1 | g.155294621C= | CA1200112233 | PKLR | c.826G= (p.Val276=) c.733G= (p.Val245=) c.985G= (p.Val329=) c.634G= (p.Val212=) | |
1 | g.155294621C>G | CA342754274 | PKLR | c.826G>C (p.Val276Leu) c.733G>C (p.Val245Leu) c.985G>C (p.Val329Leu) c.634G>C (p.Val212Leu) | |
1 | g.155294621C>T | CA1144199 | PKLR | c.826G>A (p.Val276Met) c.733G>A (p.Val245Met) c.985G>A (p.Val329Met) c.634G>A (p.Val212Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.155294624_155294625insATGCTCCTCCCC | CA2586967537 | PKLR | c.826_827insAGGAGCATGGGG (p.Gly275_Val276insGluGluHisGly) c.733_734insAGGAGCATGGGG (p.Gly244_Val245insGluGluHisGly) c.985_986insAGGAGCATGGGG (p.Gly328_Val329insGluGluHisGly) c.634_635insAGGAGCATGGGG (p.Gly211_Val212insGluGluHisGly) | gnomAD v4 |
1 | g.155294624del | CA1144198 | PKLR | c.826del (p.Val276TrpfsTer?) c.733del (p.Val245TrpfsTer?) c.985del (p.Val329TrpfsTer?) c.634del (p.Val212TrpfsTer?) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.155294622C>A | CA421245667 | PKLR | c.825G>T (p.Gly275=) c.732G>T (p.Gly244=) c.984G>T (p.Gly328=) c.633G>T (p.Gly211=) | gnomAD v4 |
1 | g.155294622C>G | CA421245664 | PKLR | c.825G>C (p.Gly275=) c.732G>C (p.Gly244=) c.984G>C (p.Gly328=) c.633G>C (p.Gly211=) | gnomAD v4 |
1 | g.155294622C>T | CA421245666 | PKLR | c.825G>A (p.Gly275=) c.732G>A (p.Gly244=) c.984G>A (p.Gly328=) c.633G>A (p.Gly211=) | |
1 | g.155294623C>A | CA342754275 | PKLR | c.824G>T (p.Gly275Val) c.731G>T (p.Gly244Val) c.983G>T (p.Gly328Val) c.632G>T (p.Gly211Val) | |
1 | g.155294623C>G | CA342754276 | PKLR | c.824G>C (p.Gly275Ala) c.731G>C (p.Gly244Ala) c.983G>C (p.Gly328Ala) c.632G>C (p.Gly211Ala) | COSMIC |
1 | g.155294623C>T | CA342754277 | PKLR | c.824G>A (p.Gly275Glu) c.731G>A (p.Gly244Glu) c.983G>A (p.Gly328Glu) c.632G>A (p.Gly211Glu) | |
1 | g.155294624C>A | CA342754278 | PKLR | c.823G>T (p.Gly275Trp) c.730G>T (p.Gly244Trp) c.982G>T (p.Gly328Trp) c.631G>T (p.Gly211Trp) | |
1 | g.155294624C= | CA1148471349 | PKLR | c.823G= (p.Gly275=) c.730G= (p.Gly244=) c.982G= (p.Gly328=) c.631G= (p.Gly211=) | |
1 | g.155294624C>G | CA1144200 | PKLR | c.823G>C (p.Gly275Arg) c.730G>C (p.Gly244Arg) c.982G>C (p.Gly328Arg) c.631G>C (p.Gly211Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.155294624C>T | CA1144201 | PKLR | c.823G>A (p.Gly275Arg) c.730G>A (p.Gly244Arg) c.982G>A (p.Gly328Arg) c.631G>A (p.Gly211Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
1 | g.155294625G>A | CA421245670 | PKLR | c.822C>T (p.Phe274=) c.729C>T (p.Phe243=) c.981C>T (p.Phe327=) c.630C>T (p.Phe210=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.155294625G>C | CA342754279 | PKLR | c.822C>G (p.Phe274Leu) c.729C>G (p.Phe243Leu) c.981C>G (p.Phe327Leu) c.630C>G (p.Phe210Leu) | |
1 | g.155294625G= | CA1200112234 | PKLR | c.822C= (p.Phe274=) c.729C= (p.Phe243=) c.981C= (p.Phe327=) c.630C= (p.Phe210=) | |
1 | g.155294625G>T | CA342754280 | PKLR | c.822C>A (p.Phe274Leu) c.729C>A (p.Phe243Leu) c.981C>A (p.Phe327Leu) c.630C>A (p.Phe210Leu) | |
1 | g.155294626A>C | CA342754281 | PKLR | c.821T>G (p.Phe274Cys) c.728T>G (p.Phe243Cys) c.980T>G (p.Phe327Cys) c.629T>G (p.Phe210Cys) | |
1 | g.155294626A>G | CA342754282 | PKLR | c.821T>C (p.Phe274Ser) c.728T>C (p.Phe243Ser) c.980T>C (p.Phe327Ser) c.629T>C (p.Phe210Ser) | |
1 | g.155294626A>T | CA342754283 | PKLR | c.821T>A (p.Phe274Tyr) c.728T>A (p.Phe243Tyr) c.980T>A (p.Phe327Tyr) c.629T>A (p.Phe210Tyr) | |
1 | g.155294627A>C | CA342754284 | PKLR | c.820T>G (p.Phe274Val) c.727T>G (p.Phe243Val) c.979T>G (p.Phe327Val) c.628T>G (p.Phe210Val) | |
1 | g.155294627A>G | CA342754285 | PKLR | c.820T>C (p.Phe274Leu) c.727T>C (p.Phe243Leu) c.979T>C (p.Phe327Leu) c.628T>C (p.Phe210Leu) | |
1 | g.155294627A>T | CA342754286 | PKLR | c.820T>A (p.Phe274Ile) c.727T>A (p.Phe243Ile) c.979T>A (p.Phe327Ile) c.628T>A (p.Phe210Ile) | |
1 | g.155294628G>A | CA421245674 | PKLR | c.819C>T (p.Arg273=) c.726C>T (p.Arg242=) c.978C>T (p.Arg326=) c.627C>T (p.Arg209=) | |
1 | g.155294628G>C | CA421245675 | PKLR | c.819C>G (p.Arg273=) c.726C>G (p.Arg242=) c.978C>G (p.Arg326=) c.627C>G (p.Arg209=) | |
1 | g.155294628G>T | CA421245676 | PKLR | c.819C>A (p.Arg273=) c.726C>A (p.Arg242=) c.978C>A (p.Arg326=) c.627C>A (p.Arg209=) | |
1 | g.155294629C>A | CA342754290 | PKLR | c.818G>T (p.Arg273Leu) c.725G>T (p.Arg242Leu) c.977G>T (p.Arg326Leu) c.626G>T (p.Arg209Leu) | |
1 | g.155294629C= | CA1141802474 | PKLR | c.818G= (p.Arg273=) c.725G= (p.Arg242=) c.977G= (p.Arg326=) c.626G= (p.Arg209=) | |
1 | g.155294629C>G | CA342754291 | PKLR | c.818G>C (p.Arg273Pro) c.725G>C (p.Arg242Pro) c.977G>C (p.Arg326Pro) c.626G>C (p.Arg209Pro) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.155294629C>T | CA1144202 | PKLR | c.818G>A (p.Arg273His) c.725G>A (p.Arg242His) c.977G>A (p.Arg326His) c.626G>A (p.Arg209His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.155294630G>A | CA1144203 | PKLR | c.817C>T (p.Arg273Cys) c.724C>T (p.Arg242Cys) c.976C>T (p.Arg326Cys) c.625C>T (p.Arg209Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
1 | g.155294630G>C | CA342754298 | PKLR | c.817C>G (p.Arg273Gly) c.724C>G (p.Arg242Gly) c.976C>G (p.Arg326Gly) c.625C>G (p.Arg209Gly) | |
1 | g.155294630G= | CA1148560049 | PKLR | c.817C= (p.Arg273=) c.724C= (p.Arg242=) c.976C= (p.Arg326=) c.625C= (p.Arg209=) | |
1 | g.155294630G>T | CA342754295 | PKLR | c.817C>A (p.Arg273Ser) c.724C>A (p.Arg242Ser) c.976C>A (p.Arg326Ser) c.625C>A (p.Arg209Ser) | gnomAD v4 |
1 | g.155294631C>A | CA421245681 | PKLR | c.816G>T (p.Leu272=) c.723G>T (p.Leu241=) c.975G>T (p.Leu325=) c.624G>T (p.Leu208=) | |
1 | g.155294631C>G | CA421245679 | PKLR | c.816G>C (p.Leu272=) c.723G>C (p.Leu241=) c.975G>C (p.Leu325=) c.624G>C (p.Leu208=) | |
1 | g.155294631C>T | CA421245680 | PKLR | c.816G>A (p.Leu272=) c.723G>A (p.Leu241=) c.975G>A (p.Leu325=) c.624G>A (p.Leu208=) | |
1 | g.155294632A= | CA1200112235 | PKLR | c.815T= (p.Leu272=) c.722T= (p.Leu241=) c.974T= (p.Leu325=) c.623T= (p.Leu208=) | |
1 | g.155294632A>C | CA342754301 | PKLR | c.815T>G (p.Leu272Arg) c.722T>G (p.Leu241Arg) c.974T>G (p.Leu325Arg) c.623T>G (p.Leu208Arg) | |
1 | g.155294632A>G | CA342754303 | PKLR | c.815T>C (p.Leu272Pro) c.722T>C (p.Leu241Pro) c.974T>C (p.Leu325Pro) c.623T>C (p.Leu208Pro) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.155294632A>T | CA342754305 | PKLR | c.815T>A (p.Leu272Gln) c.722T>A (p.Leu241Gln) c.974T>A (p.Leu325Gln) c.623T>A (p.Leu208Gln) | |
1 | g.155294633G>A | CA421245682 | PKLR | c.814C>T (p.Leu272=) c.721C>T (p.Leu241=) c.973C>T (p.Leu325=) c.622C>T (p.Leu208=) | |
1 | g.155294633G>C | CA1144204 | PKLR | c.814C>G (p.Leu272Val) c.721C>G (p.Leu241Val) c.973C>G (p.Leu325Val) c.622C>G (p.Leu208Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.155294633G= | CA1142192953 | PKLR | c.814C= (p.Leu272=) c.721C= (p.Leu241=) c.973C= (p.Leu325=) c.622C= (p.Leu208=) | |
1 | g.155294633G>T | CA342754308 | PKLR | c.814C>A (p.Leu272Met) c.721C>A (p.Leu241Met) c.973C>A (p.Leu325Met) c.622C>A (p.Leu208Met) | |
1 | g.155294634G>A | CA421245685 | PKLR | c.813C>T (p.Asp271=) c.720C>T (p.Asp240=) c.972C>T (p.Asp324=) c.621C>T (p.Asp207=) | |
1 | g.155294634G>C | CA342754312 | PKLR | c.813C>G (p.Asp271Glu) c.720C>G (p.Asp240Glu) c.972C>G (p.Asp324Glu) c.621C>G (p.Asp207Glu) | |
1 | g.155294634G>T | CA342754311 | PKLR | c.813C>A (p.Asp271Glu) c.720C>A (p.Asp240Glu) c.972C>A (p.Asp324Glu) c.621C>A (p.Asp207Glu) | gnomAD v4 |
1 | g.155294635T>A | CA342754316 | PKLR | c.812A>T (p.Asp271Val) c.719A>T (p.Asp240Val) c.971A>T (p.Asp324Val) c.620A>T (p.Asp207Val) | |
1 | g.155294635T>C | CA342754317 | PKLR | c.812A>G (p.Asp271Gly) c.719A>G (p.Asp240Gly) c.971A>G (p.Asp324Gly) c.620A>G (p.Asp207Gly) | |
1 | g.155294635T>G | CA342754319 | PKLR | c.812A>C (p.Asp271Ala) c.719A>C (p.Asp240Ala) c.971A>C (p.Asp324Ala) c.620A>C (p.Asp207Ala) | |
1 | g.155294636C>A | CA342754321 | PKLR | c.811G>T (p.Asp271Tyr) c.718G>T (p.Asp240Tyr) c.970G>T (p.Asp324Tyr) c.619G>T (p.Asp207Tyr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.155294636C= | CA1200112236 | PKLR | c.811G= (p.Asp271=) c.718G= (p.Asp240=) c.970G= (p.Asp324=) c.619G= (p.Asp207=) | |
1 | g.155294636C>G | CA342754323 | PKLR | c.811G>C (p.Asp271His) c.718G>C (p.Asp240His) c.970G>C (p.Asp324His) c.619G>C (p.Asp207His) | |
1 | g.155294636C>T | CA342754325 | PKLR | c.811G>A (p.Asp271Asn) c.718G>A (p.Asp240Asn) c.970G>A (p.Asp324Asn) c.619G>A (p.Asp207Asn) | |
1 | g.155294637T>A | CA421245695 | PKLR | c.810A>T (p.Arg270=) c.717A>T (p.Arg239=) c.969A>T (p.Arg323=) c.618A>T (p.Arg206=) | |
1 | g.155294637T>C | CA421245690 | PKLR | c.810A>G (p.Arg270=) c.717A>G (p.Arg239=) c.969A>G (p.Arg323=) c.618A>G (p.Arg206=) | |
1 | g.155294637T>G | CA421245692 | PKLR | c.810A>C (p.Arg270=) c.717A>C (p.Arg239=) c.969A>C (p.Arg323=) c.618A>C (p.Arg206=) | gnomAD v4 |
1 | g.155294638C>A | CA342754332 | PKLR | c.809G>T (p.Arg270Leu) c.716G>T (p.Arg239Leu) c.968G>T (p.Arg323Leu) c.617G>T (p.Arg206Leu) | dbSNP gnomAD v4 |
1 | g.155294638C= | CA1200112237 | PKLR | c.809G= (p.Arg270=) c.716G= (p.Arg239=) c.968G= (p.Arg323=) c.617G= (p.Arg206=) | |
1 | g.155294638C>G | CA342754330 | PKLR | c.809G>C (p.Arg270Pro) c.716G>C (p.Arg239Pro) c.968G>C (p.Arg323Pro) c.617G>C (p.Arg206Pro) | gnomAD v4 |
1 | g.155294638C>T | CA342754327 | PKLR | c.809G>A (p.Arg270Gln) c.716G>A (p.Arg239Gln) c.968G>A (p.Arg323Gln) c.617G>A (p.Arg206Gln) | gnomAD v4 |
1 | g.155294639G>A | CA342754334 | PKLR | c.808C>T (p.Arg270Ter) c.715C>T (p.Arg239Ter) c.967C>T (p.Arg323Ter) c.616C>T (p.Arg206Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
1 | g.155294639G>C | CA1144206 | PKLR | c.808C>G (p.Arg270Gly) c.715C>G (p.Arg239Gly) c.967C>G (p.Arg323Gly) c.616C>G (p.Arg206Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.155294639G= | CA1200112238 | PKLR | c.808C= (p.Arg270=) c.715C= (p.Arg239=) c.967C= (p.Arg323=) c.616C= (p.Arg206=) | |
1 | g.155294639G>T | CA1144205 | PKLR | c.808C>A (p.Arg270=) c.715C>A (p.Arg239=) c.967C>A (p.Arg323=) c.616C>A (p.Arg206=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.155294640G>A | CA421245696 | PKLR | c.807C>T (p.Val269=) c.714C>T (p.Val238=) c.966C>T (p.Val322=) c.615C>T (p.Val205=) | |
1 | g.155294640G>C | CA421245697 | PKLR | c.807C>G (p.Val269=) c.714C>G (p.Val238=) c.966C>G (p.Val322=) c.615C>G (p.Val205=) | |
1 | g.155294640G>T | CA421245698 | PKLR | c.807C>A (p.Val269=) c.714C>A (p.Val238=) c.966C>A (p.Val322=) c.615C>A (p.Val205=) | |
1 | g.155294641A= | CA1200112239 | PKLR | c.806T= (p.Val269=) c.713T= (p.Val238=) c.965T= (p.Val322=) c.614T= (p.Val205=) | |
1 | g.155294641A>C | CA342754339 | PKLR | c.806T>G (p.Val269Gly) c.713T>G (p.Val238Gly) c.965T>G (p.Val322Gly) c.614T>G (p.Val205Gly) | |
1 | g.155294641A>G | CA1144207 | PKLR | c.806T>C (p.Val269Ala) c.713T>C (p.Val238Ala) c.965T>C (p.Val322Ala) c.614T>C (p.Val205Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.155294641A>T | CA342754342 | PKLR | c.806T>A (p.Val269Asp) c.713T>A (p.Val238Asp) c.965T>A (p.Val322Asp) c.614T>A (p.Val205Asp) | dbSNP gnomAD v4 |
1 | g.155294641_155294650delinsACGTCCTGCT | CA1200112240 | PKLR | c.797_806delinsAGCAGGACGT (p.Glu266=) c.704_713delinsAGCAGGACGT (p.Glu235=) c.956_965delinsAGCAGGACGT (p.Glu319=) c.605_614delinsAGCAGGACGT (p.Glu202=) | |
1 | g.155294642C>A | CA1144208 | PKLR | c.805G>T (p.Val269Phe) c.712G>T (p.Val238Phe) c.964G>T (p.Val322Phe) c.613G>T (p.Val205Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.155294642C= | CA1143434322 | PKLR | c.805G= (p.Val269=) c.712G= (p.Val238=) c.964G= (p.Val322=) c.613G= (p.Val205=) | |
1 | g.155294642C>G | CA342754345 | PKLR | c.805G>C (p.Val269Leu) c.712G>C (p.Val238Leu) c.964G>C (p.Val322Leu) c.613G>C (p.Val205Leu) | |
1 | g.155294642C>T | CA342754346 | PKLR | c.805G>A (p.Val269Ile) c.712G>A (p.Val238Ile) c.964G>A (p.Val322Ile) c.613G>A (p.Val205Ile) | gnomAD v4 COSMIC |
1 | g.155294644_155294652del | CA1007987022 | PKLR | c.797_805del (p.Glu266_Asp268del) c.704_712del (p.Glu235_Asp237del) c.956_964del (p.Glu319_Asp321del) c.605_613del (p.Glu202_Asp204del) | dbSNP gnomAD v3 gnomAD v4 |