Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.119033203T>A | CA341436609 | WARS2 | c.791A>T (p.Tyr264Phe) c.*157A>T (n.*157A>T) c.737A>T (p.Tyr246Phe) c.509A>T (p.Tyr170Phe) c.722A>T (p.Tyr241Phe) c.533A>T (p.Tyr178Phe) c.734A>T (p.Tyr245Phe) c.620A>T (p.Tyr207Phe) c.452A>T (p.Tyr151Phe) c.*126A>T (n.*126A>T) | |
1 | g.119033203T>C | CA354975 | WARS2 | c.791A>G (p.Tyr264Cys) c.*157A>G (n.*157A>G) c.737A>G (p.Tyr246Cys) c.509A>G (p.Tyr170Cys) c.722A>G (p.Tyr241Cys) c.533A>G (p.Tyr178Cys) c.734A>G (p.Tyr245Cys) c.620A>G (p.Tyr207Cys) c.452A>G (p.Tyr151Cys) c.*126A>G (n.*126A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.119033203T>G | CA341436610 | WARS2 | c.791A>C (p.Tyr264Ser) c.*157A>C (n.*157A>C) c.737A>C (p.Tyr246Ser) c.509A>C (p.Tyr170Ser) c.722A>C (p.Tyr241Ser) c.533A>C (p.Tyr178Ser) c.734A>C (p.Tyr245Ser) c.620A>C (p.Tyr207Ser) c.452A>C (p.Tyr151Ser) c.*126A>C (n.*126A>C) | |
1 | g.119033203T= | CA1141665453 | WARS2 | c.791A= (p.Tyr264=) c.*157A= (n.*157A=) c.737A= (p.Tyr246=) c.509A= (p.Tyr170=) c.722A= (p.Tyr241=) c.533A= (p.Tyr178=) c.734A= (p.Tyr245=) c.620A= (p.Tyr207=) c.452A= (p.Tyr151=) c.*126A= (n.*126A=) | |
1 | g.119033204A>C | CA341436613 | WARS2 | c.790T>G (p.Tyr264Asp) c.*156T>G (n.*156T>G) c.736T>G (p.Tyr246Asp) c.508T>G (p.Tyr170Asp) c.721T>G (p.Tyr241Asp) c.532T>G (p.Tyr178Asp) c.733T>G (p.Tyr245Asp) c.619T>G (p.Tyr207Asp) c.451T>G (p.Tyr151Asp) c.*125T>G (n.*125T>G) | |
1 | g.119033204A>G | CA341436612 | WARS2 | c.790T>C (p.Tyr264His) c.*156T>C (n.*156T>C) c.736T>C (p.Tyr246His) c.508T>C (p.Tyr170His) c.721T>C (p.Tyr241His) c.532T>C (p.Tyr178His) c.733T>C (p.Tyr245His) c.619T>C (p.Tyr207His) c.451T>C (p.Tyr151His) c.*125T>C (n.*125T>C) | |
1 | g.119033204A>T | CA341436611 | WARS2 | c.790T>A (p.Tyr264Asn) c.*156T>A (n.*156T>A) c.736T>A (p.Tyr246Asn) c.508T>A (p.Tyr170Asn) c.721T>A (p.Tyr241Asn) c.532T>A (p.Tyr178Asn) c.733T>A (p.Tyr245Asn) c.619T>A (p.Tyr207Asn) c.451T>A (p.Tyr151Asn) c.*125T>A (n.*125T>A) | |
1 | g.119033205G>A | CA420192683 | WARS2 | c.789C>T (p.Thr263=) c.*155C>T (n.*155C>T) c.735C>T (p.Thr245=) c.507C>T (p.Thr169=) c.720C>T (p.Thr240=) c.531C>T (p.Thr177=) c.732C>T (p.Thr244=) c.618C>T (p.Thr206=) c.450C>T (p.Thr150=) c.*124C>T (n.*124C>T) | |
1 | g.119033205G>C | CA420192685 | WARS2 | c.789C>G (p.Thr263=) c.*155C>G (n.*155C>G) c.735C>G (p.Thr245=) c.507C>G (p.Thr169=) c.720C>G (p.Thr240=) c.531C>G (p.Thr177=) c.732C>G (p.Thr244=) c.618C>G (p.Thr206=) c.450C>G (p.Thr150=) c.*124C>G (n.*124C>G) | |
1 | g.119033205G>T | CA420192687 | WARS2 | c.789C>A (p.Thr263=) c.*155C>A (n.*155C>A) c.735C>A (p.Thr245=) c.507C>A (p.Thr169=) c.720C>A (p.Thr240=) c.531C>A (p.Thr177=) c.732C>A (p.Thr244=) c.618C>A (p.Thr206=) c.450C>A (p.Thr150=) c.*124C>A (n.*124C>A) | |
1 | g.119033206dup | CA2843412375 | WARS2 | c.789dup (p.Tyr264LeufsTer2) c.*155dup (n.*155dup) c.735dup (p.Tyr246LeufsTer2) c.507dup (p.Tyr170LeufsTer2) c.720dup (p.Tyr241LeufsTer2) c.531dup (p.Tyr178LeufsTer2) c.732dup (p.Tyr245LeufsTer2) c.618dup (p.Tyr207LeufsTer2) c.450dup (p.Tyr151LeufsTer2) c.*124dup (n.*124dup) | |
1 | g.119033206G>A | CA341436614 | WARS2 | c.788C>T (p.Thr263Ile) c.*154C>T (n.*154C>T) c.734C>T (p.Thr245Ile) c.506C>T (p.Thr169Ile) c.719C>T (p.Thr240Ile) c.530C>T (p.Thr177Ile) c.731C>T (p.Thr244Ile) c.617C>T (p.Thr206Ile) c.449C>T (p.Thr150Ile) c.*123C>T (n.*123C>T) | |
1 | g.119033206G>C | CA341436615 | WARS2 | c.788C>G (p.Thr263Ser) c.*154C>G (n.*154C>G) c.734C>G (p.Thr245Ser) c.506C>G (p.Thr169Ser) c.719C>G (p.Thr240Ser) c.530C>G (p.Thr177Ser) c.731C>G (p.Thr244Ser) c.617C>G (p.Thr206Ser) c.449C>G (p.Thr150Ser) c.*123C>G (n.*123C>G) | |
1 | g.119033206G>T | CA341436616 | WARS2 | c.788C>A (p.Thr263Asn) c.*154C>A (n.*154C>A) c.734C>A (p.Thr245Asn) c.506C>A (p.Thr169Asn) c.719C>A (p.Thr240Asn) c.530C>A (p.Thr177Asn) c.731C>A (p.Thr244Asn) c.617C>A (p.Thr206Asn) c.449C>A (p.Thr150Asn) c.*123C>A (n.*123C>A) | |
1 | g.119033207T>A | CA341436617 | WARS2 | c.787A>T (p.Thr263Ser) c.*153A>T (n.*153A>T) c.733A>T (p.Thr245Ser) c.505A>T (p.Thr169Ser) c.718A>T (p.Thr240Ser) c.529A>T (p.Thr177Ser) c.730A>T (p.Thr244Ser) c.616A>T (p.Thr206Ser) c.448A>T (p.Thr150Ser) c.*122A>T (n.*122A>T) | |
1 | g.119033207T>C | CA341436618 | WARS2 | c.787A>G (p.Thr263Ala) c.*153A>G (n.*153A>G) c.733A>G (p.Thr245Ala) c.505A>G (p.Thr169Ala) c.718A>G (p.Thr240Ala) c.529A>G (p.Thr177Ala) c.730A>G (p.Thr244Ala) c.616A>G (p.Thr206Ala) c.448A>G (p.Thr150Ala) c.*122A>G (n.*122A>G) | |
1 | g.119033207T>G | CA341436619 | WARS2 | c.787A>C (p.Thr263Pro) c.*153A>C (n.*153A>C) c.733A>C (p.Thr245Pro) c.505A>C (p.Thr169Pro) c.718A>C (p.Thr240Pro) c.529A>C (p.Thr177Pro) c.730A>C (p.Thr244Pro) c.616A>C (p.Thr206Pro) c.448A>C (p.Thr150Pro) c.*122A>C (n.*122A>C) | |
1 | g.119033208G>A | CA420192694 | WARS2 | c.786C>T (p.Val262=) c.*152C>T (n.*152C>T) c.732C>T (p.Val244=) c.504C>T (p.Val168=) c.717C>T (p.Val239=) c.528C>T (p.Val176=) c.729C>T (p.Val243=) c.615C>T (p.Val205=) c.447C>T (p.Val149=) c.*121C>T (n.*121C>T) | gnomAD v4 |
1 | g.119033208G>C | CA420192696 | WARS2 | c.786C>G (p.Val262=) c.*152C>G (n.*152C>G) c.732C>G (p.Val244=) c.504C>G (p.Val168=) c.717C>G (p.Val239=) c.528C>G (p.Val176=) c.729C>G (p.Val243=) c.615C>G (p.Val205=) c.447C>G (p.Val149=) c.*121C>G (n.*121C>G) | |
1 | g.119033208G>T | CA420192698 | WARS2 | c.786C>A (p.Val262=) c.*152C>A (n.*152C>A) c.732C>A (p.Val244=) c.504C>A (p.Val168=) c.717C>A (p.Val239=) c.528C>A (p.Val176=) c.729C>A (p.Val243=) c.615C>A (p.Val205=) c.447C>A (p.Val149=) c.*121C>A (n.*121C>A) | |
1 | g.119033209A>C | CA341436620 | WARS2 | c.785T>G (p.Val262Gly) c.*151T>G (n.*151T>G) c.731T>G (p.Val244Gly) c.503T>G (p.Val168Gly) c.716T>G (p.Val239Gly) c.527T>G (p.Val176Gly) c.728T>G (p.Val243Gly) c.614T>G (p.Val205Gly) c.446T>G (p.Val149Gly) c.*120T>G (n.*120T>G) | |
1 | g.119033209A>G | CA341436621 | WARS2 | c.785T>C (p.Val262Ala) c.*151T>C (n.*151T>C) c.731T>C (p.Val244Ala) c.503T>C (p.Val168Ala) c.716T>C (p.Val239Ala) c.527T>C (p.Val176Ala) c.728T>C (p.Val243Ala) c.614T>C (p.Val205Ala) c.446T>C (p.Val149Ala) c.*120T>C (n.*120T>C) | COSMIC |
1 | g.119033209A>T | CA341436622 | WARS2 | c.785T>A (p.Val262Asp) c.*151T>A (n.*151T>A) c.731T>A (p.Val244Asp) c.503T>A (p.Val168Asp) c.716T>A (p.Val239Asp) c.527T>A (p.Val176Asp) c.728T>A (p.Val243Asp) c.614T>A (p.Val205Asp) c.446T>A (p.Val149Asp) c.*120T>A (n.*120T>A) | |
1 | g.119033210C>A | CA341436623 | WARS2 | c.784G>T (p.Val262Phe) c.*150G>T (n.*150G>T) c.730G>T (p.Val244Phe) c.502G>T (p.Val168Phe) c.715G>T (p.Val239Phe) c.526G>T (p.Val176Phe) c.727G>T (p.Val243Phe) c.613G>T (p.Val205Phe) c.445G>T (p.Val149Phe) c.*119G>T (n.*119G>T) | |
1 | g.119033210C>G | CA341436624 | WARS2 | c.784G>C (p.Val262Leu) c.*150G>C (n.*150G>C) c.730G>C (p.Val244Leu) c.502G>C (p.Val168Leu) c.715G>C (p.Val239Leu) c.526G>C (p.Val176Leu) c.727G>C (p.Val243Leu) c.613G>C (p.Val205Leu) c.445G>C (p.Val149Leu) c.*119G>C (n.*119G>C) | gnomAD v4 |
1 | g.119033210C>T | CA341436625 | WARS2 | c.784G>A (p.Val262Ile) c.*150G>A (n.*150G>A) c.730G>A (p.Val244Ile) c.502G>A (p.Val168Ile) c.715G>A (p.Val239Ile) c.526G>A (p.Val176Ile) c.727G>A (p.Val243Ile) c.613G>A (p.Val205Ile) c.445G>A (p.Val149Ile) c.*119G>A (n.*119G>A) | |
1 | g.119033211C>A | CA341436626 | WARS2 | c.783G>T (p.Glu261Asp) c.*149G>T (n.*149G>T) c.729G>T (p.Glu243Asp) c.501G>T (p.Glu167Asp) c.714G>T (p.Glu238Asp) c.525G>T (p.Glu175Asp) c.726G>T (p.Glu242Asp) c.612G>T (p.Glu204Asp) c.444G>T (p.Glu148Asp) c.*118G>T (n.*118G>T) | |
1 | g.119033211C>G | CA341436627 | WARS2 | c.783G>C (p.Glu261Asp) c.*149G>C (n.*149G>C) c.729G>C (p.Glu243Asp) c.501G>C (p.Glu167Asp) c.714G>C (p.Glu238Asp) c.525G>C (p.Glu175Asp) c.726G>C (p.Glu242Asp) c.612G>C (p.Glu204Asp) c.444G>C (p.Glu148Asp) c.*118G>C (n.*118G>C) | |
1 | g.119033211C>T | CA420192702 | WARS2 | c.783G>A (p.Glu261=) c.*149G>A (n.*149G>A) c.729G>A (p.Glu243=) c.501G>A (p.Glu167=) c.714G>A (p.Glu238=) c.525G>A (p.Glu175=) c.726G>A (p.Glu242=) c.612G>A (p.Glu204=) c.444G>A (p.Glu148=) c.*118G>A (n.*118G>A) | |
1 | g.119033212T>A | CA341436630 | WARS2 | c.782A>T (p.Glu261Val) c.*148A>T (n.*148A>T) c.728A>T (p.Glu243Val) c.500A>T (p.Glu167Val) c.713A>T (p.Glu238Val) c.524A>T (p.Glu175Val) c.725A>T (p.Glu242Val) c.611A>T (p.Glu204Val) c.443A>T (p.Glu148Val) c.*117A>T (n.*117A>T) | |
1 | g.119033212T>C | CA341436629 | WARS2 | c.782A>G (p.Glu261Gly) c.*148A>G (n.*148A>G) c.728A>G (p.Glu243Gly) c.500A>G (p.Glu167Gly) c.713A>G (p.Glu238Gly) c.524A>G (p.Glu175Gly) c.725A>G (p.Glu242Gly) c.611A>G (p.Glu204Gly) c.443A>G (p.Glu148Gly) c.*117A>G (n.*117A>G) | dbSNP gnomAD v4 |
1 | g.119033212T>G | CA341436628 | WARS2 | c.782A>C (p.Glu261Ala) c.*148A>C (n.*148A>C) c.728A>C (p.Glu243Ala) c.500A>C (p.Glu167Ala) c.713A>C (p.Glu238Ala) c.524A>C (p.Glu175Ala) c.725A>C (p.Glu242Ala) c.611A>C (p.Glu204Ala) c.443A>C (p.Glu148Ala) c.*117A>C (n.*117A>C) | |
1 | g.119033212T= | CA1192128200 | WARS2 | c.782A= (p.Glu261=) c.*148A= (n.*148A=) c.728A= (p.Glu243=) c.500A= (p.Glu167=) c.713A= (p.Glu238=) c.524A= (p.Glu175=) c.725A= (p.Glu242=) c.611A= (p.Glu204=) c.443A= (p.Glu148=) c.*117A= (n.*117A=) | |
1 | g.119033213C>A | CA341436631 | WARS2 | c.781G>T (p.Glu261Ter) c.*147G>T (n.*147G>T) c.727G>T (p.Glu243Ter) c.499G>T (p.Glu167Ter) c.712G>T (p.Glu238Ter) c.523G>T (p.Glu175Ter) c.724G>T (p.Glu242Ter) c.610G>T (p.Glu204Ter) c.442G>T (p.Glu148Ter) c.*116G>T (n.*116G>T) | |
1 | g.119033213C>G | CA341436633 | WARS2 | c.781G>C (p.Glu261Gln) c.*147G>C (n.*147G>C) c.727G>C (p.Glu243Gln) c.499G>C (p.Glu167Gln) c.712G>C (p.Glu238Gln) c.523G>C (p.Glu175Gln) c.724G>C (p.Glu242Gln) c.610G>C (p.Glu204Gln) c.442G>C (p.Glu148Gln) c.*116G>C (n.*116G>C) | |
1 | g.119033213C>T | CA341436632 | WARS2 | c.781G>A (p.Glu261Lys) c.*147G>A (n.*147G>A) c.727G>A (p.Glu243Lys) c.499G>A (p.Glu167Lys) c.712G>A (p.Glu238Lys) c.523G>A (p.Glu175Lys) c.724G>A (p.Glu242Lys) c.610G>A (p.Glu204Lys) c.442G>A (p.Glu148Lys) c.*116G>A (n.*116G>A) | |
1 | g.119033214C>A | CA420192705 | WARS2 | c.780G>T (p.Ser260=) c.*146G>T (n.*146G>T) c.726G>T (p.Ser242=) c.498G>T (p.Ser166=) c.711G>T (p.Ser237=) c.522G>T (p.Ser174=) c.723G>T (p.Ser241=) c.609G>T (p.Ser203=) c.441G>T (p.Ser147=) c.*115G>T (n.*115G>T) | |
1 | g.119033214C= | CA1192128201 | WARS2 | c.780G= (p.Ser260=) c.*146G= (n.*146G=) c.726G= (p.Ser242=) c.498G= (p.Ser166=) c.711G= (p.Ser237=) c.522G= (p.Ser174=) c.723G= (p.Ser241=) c.609G= (p.Ser203=) c.441G= (p.Ser147=) c.*115G= (n.*115G=) | |
1 | g.119033214C>G | CA30376563 | WARS2 | c.780G>C (p.Ser260=) c.*146G>C (n.*146G>C) c.726G>C (p.Ser242=) c.498G>C (p.Ser166=) c.711G>C (p.Ser237=) c.522G>C (p.Ser174=) c.723G>C (p.Ser241=) c.609G>C (p.Ser203=) c.441G>C (p.Ser147=) c.*115G>C (n.*115G>C) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.119033214C>T | CA420192710 | WARS2 | c.780G>A (p.Ser260=) c.*146G>A (n.*146G>A) c.726G>A (p.Ser242=) c.498G>A (p.Ser166=) c.711G>A (p.Ser237=) c.522G>A (p.Ser174=) c.723G>A (p.Ser241=) c.609G>A (p.Ser203=) c.441G>A (p.Ser147=) c.*115G>A (n.*115G>A) | dbSNP gnomAD v4 |
1 | g.119033215G>A | CA1035223 | WARS2 | c.779C>T (p.Ser260Leu) c.*145C>T (n.*145C>T) c.725C>T (p.Ser242Leu) c.497C>T (p.Ser166Leu) c.710C>T (p.Ser237Leu) c.521C>T (p.Ser174Leu) c.722C>T (p.Ser241Leu) c.608C>T (p.Ser203Leu) c.440C>T (p.Ser147Leu) c.*114C>T (n.*114C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
1 | g.119033215G>C | CA341436634 | WARS2 | c.779C>G (p.Ser260Trp) c.*145C>G (n.*145C>G) c.725C>G (p.Ser242Trp) c.497C>G (p.Ser166Trp) c.710C>G (p.Ser237Trp) c.521C>G (p.Ser174Trp) c.722C>G (p.Ser241Trp) c.608C>G (p.Ser203Trp) c.440C>G (p.Ser147Trp) c.*114C>G (n.*114C>G) | |
1 | g.119033215G= | CA1192128202 | WARS2 | c.779C= (p.Ser260=) c.*145C= (n.*145C=) c.725C= (p.Ser242=) c.497C= (p.Ser166=) c.710C= (p.Ser237=) c.521C= (p.Ser174=) c.722C= (p.Ser241=) c.608C= (p.Ser203=) c.440C= (p.Ser147=) c.*114C= (n.*114C=) | |
1 | g.119033215G>T | CA341436635 | WARS2 | c.779C>A (p.Ser260Ter) c.*145C>A (n.*145C>A) c.725C>A (p.Ser242Ter) c.497C>A (p.Ser166Ter) c.710C>A (p.Ser237Ter) c.521C>A (p.Ser174Ter) c.722C>A (p.Ser241Ter) c.608C>A (p.Ser203Ter) c.440C>A (p.Ser147Ter) c.*114C>A (n.*114C>A) | |
1 | g.119033216A>C | CA341436636 | WARS2 | c.778T>G (p.Ser260Ala) c.*144T>G (n.*144T>G) c.724T>G (p.Ser242Ala) c.496T>G (p.Ser166Ala) c.709T>G (p.Ser237Ala) c.520T>G (p.Ser174Ala) c.721T>G (p.Ser241Ala) c.607T>G (p.Ser203Ala) c.439T>G (p.Ser147Ala) c.*113T>G (n.*113T>G) | |
1 | g.119033216A>G | CA341436637 | WARS2 | c.778T>C (p.Ser260Pro) c.*144T>C (n.*144T>C) c.724T>C (p.Ser242Pro) c.496T>C (p.Ser166Pro) c.709T>C (p.Ser237Pro) c.520T>C (p.Ser174Pro) c.721T>C (p.Ser241Pro) c.607T>C (p.Ser203Pro) c.439T>C (p.Ser147Pro) c.*113T>C (n.*113T>C) | |
1 | g.119033216A>T | CA341436638 | WARS2 | c.778T>A (p.Ser260Thr) c.*144T>A (n.*144T>A) c.724T>A (p.Ser242Thr) c.496T>A (p.Ser166Thr) c.709T>A (p.Ser237Thr) c.520T>A (p.Ser174Thr) c.721T>A (p.Ser241Thr) c.607T>A (p.Ser203Thr) c.439T>A (p.Ser147Thr) c.*113T>A (n.*113T>A) | |
1 | g.119033216dup | CA2843412376 | WARS2 | c.778dup (p.Ser260PhefsTer6) c.*144dup (n.*144dup) c.724dup (p.Ser242PhefsTer6) c.496dup (p.Ser166PhefsTer6) c.709dup (p.Ser237PhefsTer6) c.520dup (p.Ser174PhefsTer6) c.721dup (p.Ser241PhefsTer6) c.607dup (p.Ser203PhefsTer6) c.439dup (p.Ser147PhefsTer6) c.*113dup (n.*113dup) | |
1 | g.119033217G>A | CA30376564 | WARS2 | c.777C>T (p.Thr259=) c.*143C>T (n.*143C>T) c.723C>T (p.Thr241=) c.495C>T (p.Thr165=) c.708C>T (p.Thr236=) c.519C>T (p.Thr173=) c.720C>T (p.Thr240=) c.606C>T (p.Thr202=) c.438C>T (p.Thr146=) c.*112C>T (n.*112C>T) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.119033217G>C | CA420192714 | WARS2 | c.777C>G (p.Thr259=) c.*143C>G (n.*143C>G) c.723C>G (p.Thr241=) c.495C>G (p.Thr165=) c.708C>G (p.Thr236=) c.519C>G (p.Thr173=) c.720C>G (p.Thr240=) c.606C>G (p.Thr202=) c.438C>G (p.Thr146=) c.*112C>G (n.*112C>G) | |
1 | g.119033217G= | CA1192128203 | WARS2 | c.777C= (p.Thr259=) c.*143C= (n.*143C=) c.723C= (p.Thr241=) c.495C= (p.Thr165=) c.708C= (p.Thr236=) c.519C= (p.Thr173=) c.720C= (p.Thr240=) c.606C= (p.Thr202=) c.438C= (p.Thr146=) c.*112C= (n.*112C=) | |
1 | g.119033217G>T | CA420192716 | WARS2 | c.777C>A (p.Thr259=) c.*143C>A (n.*143C>A) c.723C>A (p.Thr241=) c.495C>A (p.Thr165=) c.708C>A (p.Thr236=) c.519C>A (p.Thr173=) c.720C>A (p.Thr240=) c.606C>A (p.Thr202=) c.438C>A (p.Thr146=) c.*112C>A (n.*112C>A) | |
1 | g.119033218G>A | CA341436639 | WARS2 | c.776C>T (p.Thr259Ile) c.*142C>T (n.*142C>T) c.722C>T (p.Thr241Ile) c.494C>T (p.Thr165Ile) c.707C>T (p.Thr236Ile) c.518C>T (p.Thr173Ile) c.719C>T (p.Thr240Ile) c.605C>T (p.Thr202Ile) c.437C>T (p.Thr146Ile) c.*111C>T (n.*111C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.119033218G>C | CA341436640 | WARS2 | c.776C>G (p.Thr259Ser) c.*142C>G (n.*142C>G) c.722C>G (p.Thr241Ser) c.494C>G (p.Thr165Ser) c.707C>G (p.Thr236Ser) c.518C>G (p.Thr173Ser) c.719C>G (p.Thr240Ser) c.605C>G (p.Thr202Ser) c.437C>G (p.Thr146Ser) c.*111C>G (n.*111C>G) | |
1 | g.119033218G= | CA1192128204 | WARS2 | c.776C= (p.Thr259=) c.*142C= (n.*142C=) c.722C= (p.Thr241=) c.494C= (p.Thr165=) c.707C= (p.Thr236=) c.518C= (p.Thr173=) c.719C= (p.Thr240=) c.605C= (p.Thr202=) c.437C= (p.Thr146=) c.*111C= (n.*111C=) | |
1 | g.119033218G>T | CA341436641 | WARS2 | c.776C>A (p.Thr259Asn) c.*142C>A (n.*142C>A) c.722C>A (p.Thr241Asn) c.494C>A (p.Thr165Asn) c.707C>A (p.Thr236Asn) c.518C>A (p.Thr173Asn) c.719C>A (p.Thr240Asn) c.605C>A (p.Thr202Asn) c.437C>A (p.Thr146Asn) c.*111C>A (n.*111C>A) | |
1 | g.119033219T>A | CA341436642 | WARS2 | c.775A>T (p.Thr259Ser) c.*141A>T (n.*141A>T) c.721A>T (p.Thr241Ser) c.493A>T (p.Thr165Ser) c.706A>T (p.Thr236Ser) c.517A>T (p.Thr173Ser) c.718A>T (p.Thr240Ser) c.604A>T (p.Thr202Ser) c.436A>T (p.Thr146Ser) c.*110A>T (n.*110A>T) | |
1 | g.119033219T>C | CA341436643 | WARS2 | c.775A>G (p.Thr259Ala) c.*141A>G (n.*141A>G) c.721A>G (p.Thr241Ala) c.493A>G (p.Thr165Ala) c.706A>G (p.Thr236Ala) c.517A>G (p.Thr173Ala) c.718A>G (p.Thr240Ala) c.604A>G (p.Thr202Ala) c.436A>G (p.Thr146Ala) c.*110A>G (n.*110A>G) | |
1 | g.119033219T>G | CA341436644 | WARS2 | c.775A>C (p.Thr259Pro) c.*141A>C (n.*141A>C) c.721A>C (p.Thr241Pro) c.493A>C (p.Thr165Pro) c.706A>C (p.Thr236Pro) c.517A>C (p.Thr173Pro) c.718A>C (p.Thr240Pro) c.604A>C (p.Thr202Pro) c.436A>C (p.Thr146Pro) c.*110A>C (n.*110A>C) | |
1 | g.119033220G>A | CA420192724 | WARS2 | c.774C>T (p.Phe258=) c.*140C>T (n.*140C>T) c.720C>T (p.Phe240=) c.492C>T (p.Phe164=) c.705C>T (p.Phe235=) c.516C>T (p.Phe172=) c.717C>T (p.Phe239=) c.603C>T (p.Phe201=) c.435C>T (p.Phe145=) c.*109C>T (n.*109C>T) | |
1 | g.119033220G>C | CA341436645 | WARS2 | c.774C>G (p.Phe258Leu) c.*140C>G (n.*140C>G) c.720C>G (p.Phe240Leu) c.492C>G (p.Phe164Leu) c.705C>G (p.Phe235Leu) c.516C>G (p.Phe172Leu) c.717C>G (p.Phe239Leu) c.603C>G (p.Phe201Leu) c.435C>G (p.Phe145Leu) c.*109C>G (n.*109C>G) | |
1 | g.119033220G>T | CA341436646 | WARS2 | c.774C>A (p.Phe258Leu) c.*140C>A (n.*140C>A) c.720C>A (p.Phe240Leu) c.492C>A (p.Phe164Leu) c.705C>A (p.Phe235Leu) c.516C>A (p.Phe172Leu) c.717C>A (p.Phe239Leu) c.603C>A (p.Phe201Leu) c.435C>A (p.Phe145Leu) c.*109C>A (n.*109C>A) | gnomAD v4 |
1 | g.119033221A>C | CA341436647 | WARS2 | c.773T>G (p.Phe258Cys) c.*139T>G (n.*139T>G) c.719T>G (p.Phe240Cys) c.491T>G (p.Phe164Cys) c.704T>G (p.Phe235Cys) c.515T>G (p.Phe172Cys) c.716T>G (p.Phe239Cys) c.602T>G (p.Phe201Cys) c.434T>G (p.Phe145Cys) c.*108T>G (n.*108T>G) | |
1 | g.119033221A>G | CA341436648 | WARS2 | c.773T>C (p.Phe258Ser) c.*139T>C (n.*139T>C) c.719T>C (p.Phe240Ser) c.491T>C (p.Phe164Ser) c.704T>C (p.Phe235Ser) c.515T>C (p.Phe172Ser) c.716T>C (p.Phe239Ser) c.602T>C (p.Phe201Ser) c.434T>C (p.Phe145Ser) c.*108T>C (n.*108T>C) | |
1 | g.119033221A>T | CA341436649 | WARS2 | c.773T>A (p.Phe258Tyr) c.*139T>A (n.*139T>A) c.719T>A (p.Phe240Tyr) c.491T>A (p.Phe164Tyr) c.704T>A (p.Phe235Tyr) c.515T>A (p.Phe172Tyr) c.716T>A (p.Phe239Tyr) c.602T>A (p.Phe201Tyr) c.434T>A (p.Phe145Tyr) c.*108T>A (n.*108T>A) | |
1 | g.119033222A= | CA1192128205 | WARS2 | c.772T= (p.Phe258=) c.*138T= (n.*138T=) c.718T= (p.Phe240=) c.490T= (p.Phe164=) c.703T= (p.Phe235=) c.514T= (p.Phe172=) c.715T= (p.Phe239=) c.601T= (p.Phe201=) c.433T= (p.Phe145=) c.*107T= (n.*107T=) | |
1 | g.119033222A>C | CA341436650 | WARS2 | c.772T>G (p.Phe258Val) c.*138T>G (n.*138T>G) c.718T>G (p.Phe240Val) c.490T>G (p.Phe164Val) c.703T>G (p.Phe235Val) c.514T>G (p.Phe172Val) c.715T>G (p.Phe239Val) c.601T>G (p.Phe201Val) c.433T>G (p.Phe145Val) c.*107T>G (n.*107T>G) | |
1 | g.119033222A>G | CA341436651 | WARS2 | c.772T>C (p.Phe258Leu) c.*138T>C (n.*138T>C) c.718T>C (p.Phe240Leu) c.490T>C (p.Phe164Leu) c.703T>C (p.Phe235Leu) c.514T>C (p.Phe172Leu) c.715T>C (p.Phe239Leu) c.601T>C (p.Phe201Leu) c.433T>C (p.Phe145Leu) c.*107T>C (n.*107T>C) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.119033222A>T | CA341436652 | WARS2 | c.772T>A (p.Phe258Ile) c.*138T>A (n.*138T>A) c.718T>A (p.Phe240Ile) c.490T>A (p.Phe164Ile) c.703T>A (p.Phe235Ile) c.514T>A (p.Phe172Ile) c.715T>A (p.Phe239Ile) c.601T>A (p.Phe201Ile) c.433T>A (p.Phe145Ile) c.*107T>A (n.*107T>A) | |
1 | g.119033223G>A | CA1035224 | WARS2 | c.771C>T (p.Asp257=) c.*137C>T (n.*137C>T) c.717C>T (p.Asp239=) c.489C>T (p.Asp163=) c.702C>T (p.Asp234=) c.513C>T (p.Asp171=) c.714C>T (p.Asp238=) c.600C>T (p.Asp200=) c.432C>T (p.Asp144=) c.*106C>T (n.*106C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.119033223G>C | CA341436653 | WARS2 | c.771C>G (p.Asp257Glu) c.*137C>G (n.*137C>G) c.717C>G (p.Asp239Glu) c.489C>G (p.Asp163Glu) c.702C>G (p.Asp234Glu) c.513C>G (p.Asp171Glu) c.714C>G (p.Asp238Glu) c.600C>G (p.Asp200Glu) c.432C>G (p.Asp144Glu) c.*106C>G (n.*106C>G) | |
1 | g.119033223G= | CA1192128206 | WARS2 | c.771C= (p.Asp257=) c.*137C= (n.*137C=) c.717C= (p.Asp239=) c.489C= (p.Asp163=) c.702C= (p.Asp234=) c.513C= (p.Asp171=) c.714C= (p.Asp238=) c.600C= (p.Asp200=) c.432C= (p.Asp144=) c.*106C= (n.*106C=) | |
1 | g.119033223G>T | CA341436654 | WARS2 | c.771C>A (p.Asp257Glu) c.*137C>A (n.*137C>A) c.717C>A (p.Asp239Glu) c.489C>A (p.Asp163Glu) c.702C>A (p.Asp234Glu) c.513C>A (p.Asp171Glu) c.714C>A (p.Asp238Glu) c.600C>A (p.Asp200Glu) c.432C>A (p.Asp144Glu) c.*106C>A (n.*106C>A) | |
1 | g.119033224T>A | CA341436655 | WARS2 | c.770A>T (p.Asp257Val) c.*136A>T (n.*136A>T) c.716A>T (p.Asp239Val) c.488A>T (p.Asp163Val) c.701A>T (p.Asp234Val) c.512A>T (p.Asp171Val) c.713A>T (p.Asp238Val) c.599A>T (p.Asp200Val) c.431A>T (p.Asp144Val) c.*105A>T (n.*105A>T) | |
1 | g.119033224T>C | CA341436656 | WARS2 | c.770A>G (p.Asp257Gly) c.*136A>G (n.*136A>G) c.716A>G (p.Asp239Gly) c.488A>G (p.Asp163Gly) c.701A>G (p.Asp234Gly) c.512A>G (p.Asp171Gly) c.713A>G (p.Asp238Gly) c.599A>G (p.Asp200Gly) c.431A>G (p.Asp144Gly) c.*105A>G (n.*105A>G) | |
1 | g.119033224T>G | CA341436657 | WARS2 | c.770A>C (p.Asp257Ala) c.*136A>C (n.*136A>C) c.716A>C (p.Asp239Ala) c.488A>C (p.Asp163Ala) c.701A>C (p.Asp234Ala) c.512A>C (p.Asp171Ala) c.713A>C (p.Asp238Ala) c.599A>C (p.Asp200Ala) c.431A>C (p.Asp144Ala) c.*105A>C (n.*105A>C) | |
1 | g.119033225del | CA2647370035 | WARS2 | c.769del (p.Asp257ThrfsTer19) c.*135del (n.*135del) c.715del (p.Asp239ThrfsTer19) c.487del (p.Asp163ThrfsTer19) c.700del (p.Asp234ThrfsTer19) c.511del (p.Asp171ThrfsTer19) c.712del (p.Asp238ThrfsTer19) c.598del (p.Asp200ThrfsTer19) c.430del (p.Asp144ThrfsTer19) c.*104del (n.*104del) | gnomAD v4 |
1 | g.119033225C>A | CA341436658 | WARS2 | c.769G>T (p.Asp257Tyr) c.*135G>T (n.*135G>T) c.715G>T (p.Asp239Tyr) c.487G>T (p.Asp163Tyr) c.700G>T (p.Asp234Tyr) c.511G>T (p.Asp171Tyr) c.712G>T (p.Asp238Tyr) c.598G>T (p.Asp200Tyr) c.430G>T (p.Asp144Tyr) c.*104G>T (n.*104G>T) | |
1 | g.119033225C>G | CA341436660 | WARS2 | c.769G>C (p.Asp257His) c.*135G>C (n.*135G>C) c.715G>C (p.Asp239His) c.487G>C (p.Asp163His) c.700G>C (p.Asp234His) c.511G>C (p.Asp171His) c.712G>C (p.Asp238His) c.598G>C (p.Asp200His) c.430G>C (p.Asp144His) c.*104G>C (n.*104G>C) | COSMIC |
1 | g.119033225C>T | CA341436659 | WARS2 | c.769G>A (p.Asp257Asn) c.*135G>A (n.*135G>A) c.715G>A (p.Asp239Asn) c.487G>A (p.Asp163Asn) c.700G>A (p.Asp234Asn) c.511G>A (p.Asp171Asn) c.712G>A (p.Asp238Asn) c.598G>A (p.Asp200Asn) c.430G>A (p.Asp144Asn) c.*104G>A (n.*104G>A) | |
1 | g.119033225dup | CA2838620753 | WARS2 | c.769dup (p.Asp257GlyfsTer9) c.*135dup (n.*135dup) c.715dup (p.Asp239GlyfsTer9) c.487dup (p.Asp163GlyfsTer9) c.700dup (p.Asp234GlyfsTer9) c.511dup (p.Asp171GlyfsTer9) c.712dup (p.Asp238GlyfsTer9) c.598dup (p.Asp200GlyfsTer9) c.430dup (p.Asp144GlyfsTer9) c.*104dup (n.*104dup) | |
1 | g.119033226T>A | CA420192733 | WARS2 | c.768A>T (p.Thr256=) c.*134A>T (n.*134A>T) c.714A>T (p.Thr238=) c.486A>T (p.Thr162=) c.699A>T (p.Thr233=) c.510A>T (p.Thr170=) c.711A>T (p.Thr237=) c.597A>T (p.Thr199=) c.429A>T (p.Thr143=) c.*103A>T (n.*103A>T) | |
1 | g.119033226T>C | CA420192736 | WARS2 | c.768A>G (p.Thr256=) c.*134A>G (n.*134A>G) c.714A>G (p.Thr238=) c.486A>G (p.Thr162=) c.699A>G (p.Thr233=) c.510A>G (p.Thr170=) c.711A>G (p.Thr237=) c.597A>G (p.Thr199=) c.429A>G (p.Thr143=) c.*103A>G (n.*103A>G) | dbSNP |
1 | g.119033226T>G | CA420192735 | WARS2 | c.768A>C (p.Thr256=) c.*134A>C (n.*134A>C) c.714A>C (p.Thr238=) c.486A>C (p.Thr162=) c.699A>C (p.Thr233=) c.510A>C (p.Thr170=) c.711A>C (p.Thr237=) c.597A>C (p.Thr199=) c.429A>C (p.Thr143=) c.*103A>C (n.*103A>C) | |
1 | g.119033227G>A | CA341436661 | WARS2 | c.767C>T (p.Thr256Ile) c.*133C>T (n.*133C>T) c.713C>T (p.Thr238Ile) c.485C>T (p.Thr162Ile) c.698C>T (p.Thr233Ile) c.509C>T (p.Thr170Ile) c.710C>T (p.Thr237Ile) c.596C>T (p.Thr199Ile) c.428C>T (p.Thr143Ile) c.*102C>T (n.*102C>T) | |
1 | g.119033227G>C | CA341436663 | WARS2 | c.767C>G (p.Thr256Arg) c.*133C>G (n.*133C>G) c.713C>G (p.Thr238Arg) c.485C>G (p.Thr162Arg) c.698C>G (p.Thr233Arg) c.509C>G (p.Thr170Arg) c.710C>G (p.Thr237Arg) c.596C>G (p.Thr199Arg) c.428C>G (p.Thr143Arg) c.*102C>G (n.*102C>G) | |
1 | g.119033227G>T | CA341436662 | WARS2 | c.767C>A (p.Thr256Lys) c.*133C>A (n.*133C>A) c.713C>A (p.Thr238Lys) c.485C>A (p.Thr162Lys) c.698C>A (p.Thr233Lys) c.509C>A (p.Thr170Lys) c.710C>A (p.Thr237Lys) c.596C>A (p.Thr199Lys) c.428C>A (p.Thr143Lys) c.*102C>A (n.*102C>A) | |
1 | g.119033228T>A | CA341436664 | WARS2 | c.766A>T (p.Thr256Ser) c.*132A>T (n.*132A>T) c.712A>T (p.Thr238Ser) c.484A>T (p.Thr162Ser) c.697A>T (p.Thr233Ser) c.508A>T (p.Thr170Ser) c.709A>T (p.Thr237Ser) c.595A>T (p.Thr199Ser) c.427A>T (p.Thr143Ser) c.*101A>T (n.*101A>T) | |
1 | g.119033228T>C | CA341436665 | WARS2 | c.766A>G (p.Thr256Ala) c.*132A>G (n.*132A>G) c.712A>G (p.Thr238Ala) c.484A>G (p.Thr162Ala) c.697A>G (p.Thr233Ala) c.508A>G (p.Thr170Ala) c.709A>G (p.Thr237Ala) c.595A>G (p.Thr199Ala) c.427A>G (p.Thr143Ala) c.*101A>G (n.*101A>G) | gnomAD v4 |
1 | g.119033228T>G | CA341436666 | WARS2 | c.766A>C (p.Thr256Pro) c.*132A>C (n.*132A>C) c.712A>C (p.Thr238Pro) c.484A>C (p.Thr162Pro) c.697A>C (p.Thr233Pro) c.508A>C (p.Thr170Pro) c.709A>C (p.Thr237Pro) c.595A>C (p.Thr199Pro) c.427A>C (p.Thr143Pro) c.*101A>C (n.*101A>C) | |
1 | g.119033229C>A | CA420192744 | WARS2 | c.765G>T (p.Val255=) c.*131G>T (n.*131G>T) c.711G>T (p.Val237=) c.483G>T (p.Val161=) c.696G>T (p.Val232=) c.507G>T (p.Val169=) c.708G>T (p.Val236=) c.594G>T (p.Val198=) c.426G>T (p.Val142=) c.*100G>T (n.*100G>T) | |
1 | g.119033229C>G | CA420192745 | WARS2 | c.765G>C (p.Val255=) c.*131G>C (n.*131G>C) c.711G>C (p.Val237=) c.483G>C (p.Val161=) c.696G>C (p.Val232=) c.507G>C (p.Val169=) c.708G>C (p.Val236=) c.594G>C (p.Val198=) c.426G>C (p.Val142=) c.*100G>C (n.*100G>C) | |
1 | g.119033229C>T | CA420192746 | WARS2 | c.765G>A (p.Val255=) c.*131G>A (n.*131G>A) c.711G>A (p.Val237=) c.483G>A (p.Val161=) c.696G>A (p.Val232=) c.507G>A (p.Val169=) c.708G>A (p.Val236=) c.594G>A (p.Val198=) c.426G>A (p.Val142=) c.*100G>A (n.*100G>A) | |
1 | g.119033230A>C | CA341436667 | WARS2 | c.764T>G (p.Val255Gly) c.*130T>G (n.*130T>G) c.710T>G (p.Val237Gly) c.482T>G (p.Val161Gly) c.695T>G (p.Val232Gly) c.506T>G (p.Val169Gly) c.707T>G (p.Val236Gly) c.593T>G (p.Val198Gly) c.425T>G (p.Val142Gly) c.*99T>G (n.*99T>G) | |
1 | g.119033230A>G | CA341436668 | WARS2 | c.764T>C (p.Val255Ala) c.*130T>C (n.*130T>C) c.710T>C (p.Val237Ala) c.482T>C (p.Val161Ala) c.695T>C (p.Val232Ala) c.506T>C (p.Val169Ala) c.707T>C (p.Val236Ala) c.593T>C (p.Val198Ala) c.425T>C (p.Val142Ala) c.*99T>C (n.*99T>C) | |
1 | g.119033230A>T | CA341436669 | WARS2 | c.764T>A (p.Val255Glu) c.*130T>A (n.*130T>A) c.710T>A (p.Val237Glu) c.482T>A (p.Val161Glu) c.695T>A (p.Val232Glu) c.506T>A (p.Val169Glu) c.707T>A (p.Val236Glu) c.593T>A (p.Val198Glu) c.425T>A (p.Val142Glu) c.*99T>A (n.*99T>A) | |
1 | g.119033231C>A | CA341436670 | WARS2 | c.763G>T (p.Val255Leu) c.*129G>T (n.*129G>T) c.709G>T (p.Val237Leu) c.481G>T (p.Val161Leu) c.694G>T (p.Val232Leu) c.505G>T (p.Val169Leu) c.706G>T (p.Val236Leu) c.592G>T (p.Val198Leu) c.424G>T (p.Val142Leu) c.*98G>T (n.*98G>T) | |
1 | g.119033231C= | CA1192128207 | WARS2 | c.763G= (p.Val255=) c.*129G= (n.*129G=) c.709G= (p.Val237=) c.481G= (p.Val161=) c.694G= (p.Val232=) c.505G= (p.Val169=) c.706G= (p.Val236=) c.592G= (p.Val198=) c.424G= (p.Val142=) c.*98G= (n.*98G=) | |
1 | g.119033231C>G | CA341436671 | WARS2 | c.763G>C (p.Val255Leu) c.*129G>C (n.*129G>C) c.709G>C (p.Val237Leu) c.481G>C (p.Val161Leu) c.694G>C (p.Val232Leu) c.505G>C (p.Val169Leu) c.706G>C (p.Val236Leu) c.592G>C (p.Val198Leu) c.424G>C (p.Val142Leu) c.*98G>C (n.*98G>C) | |
1 | g.119033231C>T | CA341436672 | WARS2 | c.763G>A (p.Val255Met) c.*129G>A (n.*129G>A) c.709G>A (p.Val237Met) c.481G>A (p.Val161Met) c.694G>A (p.Val232Met) c.505G>A (p.Val169Met) c.706G>A (p.Val236Met) c.592G>A (p.Val198Met) c.424G>A (p.Val142Met) c.*98G>A (n.*98G>A) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.119033232A>C | CA420192757 | WARS2 | c.762T>G (p.Ala254=) c.*128T>G (n.*128T>G) c.708T>G (p.Ala236=) c.480T>G (p.Ala160=) c.693T>G (p.Ala231=) c.504T>G (p.Ala168=) c.705T>G (p.Ala235=) c.591T>G (p.Ala197=) c.423T>G (p.Ala141=) c.*97T>G (n.*97T>G) | |
1 | g.119033232A>G | CA420192759 | WARS2 | c.762T>C (p.Ala254=) c.*128T>C (n.*128T>C) c.708T>C (p.Ala236=) c.480T>C (p.Ala160=) c.693T>C (p.Ala231=) c.504T>C (p.Ala168=) c.705T>C (p.Ala235=) c.591T>C (p.Ala197=) c.423T>C (p.Ala141=) c.*97T>C (n.*97T>C) | gnomAD v4 |
1 | g.119033232A>T | CA420192761 | WARS2 | c.762T>A (p.Ala254=) c.*128T>A (n.*128T>A) c.708T>A (p.Ala236=) c.480T>A (p.Ala160=) c.693T>A (p.Ala231=) c.504T>A (p.Ala168=) c.705T>A (p.Ala235=) c.591T>A (p.Ala197=) c.423T>A (p.Ala141=) c.*97T>A (n.*97T>A) | |
1 | g.119033233G>A | CA341436673 | WARS2 | c.761C>T (p.Ala254Val) c.*127C>T (n.*127C>T) c.707C>T (p.Ala236Val) c.479C>T (p.Ala160Val) c.692C>T (p.Ala231Val) c.503C>T (p.Ala168Val) c.704C>T (p.Ala235Val) c.590C>T (p.Ala197Val) c.422C>T (p.Ala141Val) c.*96C>T (n.*96C>T) | |
1 | g.119033233G>C | CA341436674 | WARS2 | c.761C>G (p.Ala254Gly) c.*127C>G (n.*127C>G) c.707C>G (p.Ala236Gly) c.479C>G (p.Ala160Gly) c.692C>G (p.Ala231Gly) c.503C>G (p.Ala168Gly) c.704C>G (p.Ala235Gly) c.590C>G (p.Ala197Gly) c.422C>G (p.Ala141Gly) c.*96C>G (n.*96C>G) | |
1 | g.119033233G>T | CA341436675 | WARS2 | c.761C>A (p.Ala254Asp) c.*127C>A (n.*127C>A) c.707C>A (p.Ala236Asp) c.479C>A (p.Ala160Asp) c.692C>A (p.Ala231Asp) c.503C>A (p.Ala168Asp) c.704C>A (p.Ala235Asp) c.590C>A (p.Ala197Asp) c.422C>A (p.Ala141Asp) c.*96C>A (n.*96C>A) | |
1 | g.119033234C>A | CA341436678 | WARS2 | c.760G>T (p.Ala254Ser) c.*126G>T (n.*126G>T) c.706G>T (p.Ala236Ser) c.478G>T (p.Ala160Ser) c.691G>T (p.Ala231Ser) c.502G>T (p.Ala168Ser) c.703G>T (p.Ala235Ser) c.589G>T (p.Ala197Ser) c.421G>T (p.Ala141Ser) c.*95G>T (n.*95G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.119033234C= | CA1192128208 | WARS2 | c.760G= (p.Ala254=) c.*126G= (n.*126G=) c.706G= (p.Ala236=) c.478G= (p.Ala160=) c.691G= (p.Ala231=) c.502G= (p.Ala168=) c.703G= (p.Ala235=) c.589G= (p.Ala197=) c.421G= (p.Ala141=) c.*95G= (n.*95G=) | |
1 | g.119033234C>G | CA341436676 | WARS2 | c.760G>C (p.Ala254Pro) c.*126G>C (n.*126G>C) c.706G>C (p.Ala236Pro) c.478G>C (p.Ala160Pro) c.691G>C (p.Ala231Pro) c.502G>C (p.Ala168Pro) c.703G>C (p.Ala235Pro) c.589G>C (p.Ala197Pro) c.421G>C (p.Ala141Pro) c.*95G>C (n.*95G>C) | gnomAD v4 |
1 | g.119033234C>T | CA341436677 | WARS2 | c.760G>A (p.Ala254Thr) c.*126G>A (n.*126G>A) c.706G>A (p.Ala236Thr) c.478G>A (p.Ala160Thr) c.691G>A (p.Ala231Thr) c.502G>A (p.Ala168Thr) c.703G>A (p.Ala235Thr) c.589G>A (p.Ala197Thr) c.421G>A (p.Ala141Thr) c.*95G>A (n.*95G>A) | gnomAD v4 |
1 | g.119033235C>A | CA341436679 | WARS2 | c.759G>T (p.Lys253Asn) c.*125G>T (n.*125G>T) c.705G>T (p.Lys235Asn) c.477G>T (p.Lys159Asn) c.690G>T (p.Lys230Asn) c.501G>T (p.Lys167Asn) c.702G>T (p.Lys234Asn) c.588G>T (p.Lys196Asn) c.420G>T (p.Lys140Asn) c.*94G>T (n.*94G>T) | |
1 | g.119033235C>G | CA341436680 | WARS2 | c.759G>C (p.Lys253Asn) c.*125G>C (n.*125G>C) c.705G>C (p.Lys235Asn) c.477G>C (p.Lys159Asn) c.690G>C (p.Lys230Asn) c.501G>C (p.Lys167Asn) c.702G>C (p.Lys234Asn) c.588G>C (p.Lys196Asn) c.420G>C (p.Lys140Asn) c.*94G>C (n.*94G>C) | gnomAD v4 |
1 | g.119033235C>T | CA420192767 | WARS2 | c.759G>A (p.Lys253=) c.*125G>A (n.*125G>A) c.705G>A (p.Lys235=) c.477G>A (p.Lys159=) c.690G>A (p.Lys230=) c.501G>A (p.Lys167=) c.702G>A (p.Lys234=) c.588G>A (p.Lys196=) c.420G>A (p.Lys140=) c.*94G>A (n.*94G>A) | |
1 | g.119033236T>A | CA341436681 | WARS2 | c.758A>T (p.Lys253Met) c.*124A>T (n.*124A>T) c.704A>T (p.Lys235Met) c.476A>T (p.Lys159Met) c.689A>T (p.Lys230Met) c.500A>T (p.Lys167Met) c.701A>T (p.Lys234Met) c.587A>T (p.Lys196Met) c.419A>T (p.Lys140Met) c.*93A>T (n.*93A>T) | |
1 | g.119033236T>C | CA341436682 | WARS2 | c.758A>G (p.Lys253Arg) c.*124A>G (n.*124A>G) c.704A>G (p.Lys235Arg) c.476A>G (p.Lys159Arg) c.689A>G (p.Lys230Arg) c.500A>G (p.Lys167Arg) c.701A>G (p.Lys234Arg) c.587A>G (p.Lys196Arg) c.419A>G (p.Lys140Arg) c.*93A>G (n.*93A>G) | |
1 | g.119033236T>G | CA341436683 | WARS2 | c.758A>C (p.Lys253Thr) c.*124A>C (n.*124A>C) c.704A>C (p.Lys235Thr) c.476A>C (p.Lys159Thr) c.689A>C (p.Lys230Thr) c.500A>C (p.Lys167Thr) c.701A>C (p.Lys234Thr) c.587A>C (p.Lys196Thr) c.419A>C (p.Lys140Thr) c.*93A>C (n.*93A>C) | |
1 | g.119033237T>A | CA341436684 | WARS2 | c.757A>T (p.Lys253Ter) c.*123A>T (n.*123A>T) c.703A>T (p.Lys235Ter) c.475A>T (p.Lys159Ter) c.688A>T (p.Lys230Ter) c.499A>T (p.Lys167Ter) c.700A>T (p.Lys234Ter) c.586A>T (p.Lys196Ter) c.418A>T (p.Lys140Ter) c.*92A>T (n.*92A>T) | |
1 | g.119033237T>C | CA341436685 | WARS2 | c.757A>G (p.Lys253Glu) c.*123A>G (n.*123A>G) c.703A>G (p.Lys235Glu) c.475A>G (p.Lys159Glu) c.688A>G (p.Lys230Glu) c.499A>G (p.Lys167Glu) c.700A>G (p.Lys234Glu) c.586A>G (p.Lys196Glu) c.418A>G (p.Lys140Glu) c.*92A>G (n.*92A>G) | |
1 | g.119033237T>G | CA341436686 | WARS2 | c.757A>C (p.Lys253Gln) c.*123A>C (n.*123A>C) c.703A>C (p.Lys235Gln) c.475A>C (p.Lys159Gln) c.688A>C (p.Lys230Gln) c.499A>C (p.Lys167Gln) c.700A>C (p.Lys234Gln) c.586A>C (p.Lys196Gln) c.418A>C (p.Lys140Gln) c.*92A>C (n.*92A>C) | |
1 | g.119033238G>A | CA420192772 | WARS2 | c.756C>T (p.Arg252=) c.*122C>T (n.*122C>T) c.702C>T (p.Arg234=) c.474C>T (p.Arg158=) c.687C>T (p.Arg229=) c.498C>T (p.Arg166=) c.699C>T (p.Arg233=) c.585C>T (p.Arg195=) c.417C>T (p.Arg139=) c.*91C>T (n.*91C>T) | gnomAD v4 |
1 | g.119033238G>C | CA420192774 | WARS2 | c.756C>G (p.Arg252=) c.*122C>G (n.*122C>G) c.702C>G (p.Arg234=) c.474C>G (p.Arg158=) c.687C>G (p.Arg229=) c.498C>G (p.Arg166=) c.699C>G (p.Arg233=) c.585C>G (p.Arg195=) c.417C>G (p.Arg139=) c.*91C>G (n.*91C>G) | |
1 | g.119033238G>T | CA420192776 | WARS2 | c.756C>A (p.Arg252=) c.*122C>A (n.*122C>A) c.702C>A (p.Arg234=) c.474C>A (p.Arg158=) c.687C>A (p.Arg229=) c.498C>A (p.Arg166=) c.699C>A (p.Arg233=) c.585C>A (p.Arg195=) c.417C>A (p.Arg139=) c.*91C>A (n.*91C>A) | |
1 | g.119033239C>A | CA341436687 | WARS2 | c.755G>T (p.Arg252Leu) c.*121G>T (n.*121G>T) c.701G>T (p.Arg234Leu) c.473G>T (p.Arg158Leu) c.686G>T (p.Arg229Leu) c.497G>T (p.Arg166Leu) c.698G>T (p.Arg233Leu) c.584G>T (p.Arg195Leu) c.416G>T (p.Arg139Leu) c.*90G>T (n.*90G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.119033239C= | CA1192128209 | WARS2 | c.755G= (p.Arg252=) c.*121G= (n.*121G=) c.701G= (p.Arg234=) c.473G= (p.Arg158=) c.686G= (p.Arg229=) c.497G= (p.Arg166=) c.698G= (p.Arg233=) c.584G= (p.Arg195=) c.416G= (p.Arg139=) c.*90G= (n.*90G=) | |
1 | g.119033239C>G | CA341436688 | WARS2 | c.755G>C (p.Arg252Pro) c.*121G>C (n.*121G>C) c.701G>C (p.Arg234Pro) c.473G>C (p.Arg158Pro) c.686G>C (p.Arg229Pro) c.497G>C (p.Arg166Pro) c.698G>C (p.Arg233Pro) c.584G>C (p.Arg195Pro) c.416G>C (p.Arg139Pro) c.*90G>C (n.*90G>C) | gnomAD v4 |
1 | g.119033239C>T | CA1035225 | WARS2 | c.755G>A (p.Arg252His) c.*121G>A (n.*121G>A) c.701G>A (p.Arg234His) c.473G>A (p.Arg158His) c.686G>A (p.Arg229His) c.497G>A (p.Arg166His) c.698G>A (p.Arg233His) c.584G>A (p.Arg195His) c.416G>A (p.Arg139His) c.*90G>A (n.*90G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.119033240G>A | CA1035226 | WARS2 | c.754C>T (p.Arg252Cys) c.*120C>T (n.*120C>T) c.700C>T (p.Arg234Cys) c.472C>T (p.Arg158Cys) c.685C>T (p.Arg229Cys) c.496C>T (p.Arg166Cys) c.697C>T (p.Arg233Cys) c.583C>T (p.Arg195Cys) c.415C>T (p.Arg139Cys) c.*89C>T (n.*89C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.119033240G>C | CA341436690 | WARS2 | c.754C>G (p.Arg252Gly) c.*120C>G (n.*120C>G) c.700C>G (p.Arg234Gly) c.472C>G (p.Arg158Gly) c.685C>G (p.Arg229Gly) c.496C>G (p.Arg166Gly) c.697C>G (p.Arg233Gly) c.583C>G (p.Arg195Gly) c.415C>G (p.Arg139Gly) c.*89C>G (n.*89C>G) | |
1 | g.119033240G= | CA1142315716 | WARS2 | c.754C= (p.Arg252=) c.*120C= (n.*120C=) c.700C= (p.Arg234=) c.472C= (p.Arg158=) c.685C= (p.Arg229=) c.496C= (p.Arg166=) c.697C= (p.Arg233=) c.583C= (p.Arg195=) c.415C= (p.Arg139=) c.*89C= (n.*89C=) | |
1 | g.119033240G>T | CA341436689 | WARS2 | c.754C>A (p.Arg252Ser) c.*120C>A (n.*120C>A) c.700C>A (p.Arg234Ser) c.472C>A (p.Arg158Ser) c.685C>A (p.Arg229Ser) c.496C>A (p.Arg166Ser) c.697C>A (p.Arg233Ser) c.583C>A (p.Arg195Ser) c.415C>A (p.Arg139Ser) c.*89C>A (n.*89C>A) | |
1 | g.119033241G>A | CA420192785 | WARS2 | c.753C>T (p.Phe251=) c.*119C>T (n.*119C>T) c.699C>T (p.Phe233=) c.471C>T (p.Phe157=) c.684C>T (p.Phe228=) c.495C>T (p.Phe165=) c.696C>T (p.Phe232=) c.582C>T (p.Phe194=) c.414C>T (p.Phe138=) c.*88C>T (n.*88C>T) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
1 | g.119033241G>C | CA341436691 | WARS2 | c.753C>G (p.Phe251Leu) c.*119C>G (n.*119C>G) c.699C>G (p.Phe233Leu) c.471C>G (p.Phe157Leu) c.684C>G (p.Phe228Leu) c.495C>G (p.Phe165Leu) c.696C>G (p.Phe232Leu) c.582C>G (p.Phe194Leu) c.414C>G (p.Phe138Leu) c.*88C>G (n.*88C>G) | |
1 | g.119033241G= | CA1192128210 | WARS2 | c.753C= (p.Phe251=) c.*119C= (n.*119C=) c.699C= (p.Phe233=) c.471C= (p.Phe157=) c.684C= (p.Phe228=) c.495C= (p.Phe165=) c.696C= (p.Phe232=) c.582C= (p.Phe194=) c.414C= (p.Phe138=) c.*88C= (n.*88C=) | |
1 | g.119033241G>T | CA30376565 | WARS2 | c.753C>A (p.Phe251Leu) c.*119C>A (n.*119C>A) c.699C>A (p.Phe233Leu) c.471C>A (p.Phe157Leu) c.684C>A (p.Phe228Leu) c.495C>A (p.Phe165Leu) c.696C>A (p.Phe232Leu) c.582C>A (p.Phe194Leu) c.414C>A (p.Phe138Leu) c.*88C>A (n.*88C>A) | dbSNP |
1 | g.119033242A>C | CA341436692 | WARS2 | c.752T>G (p.Phe251Cys) c.*118T>G (n.*118T>G) c.698T>G (p.Phe233Cys) c.470T>G (p.Phe157Cys) c.683T>G (p.Phe228Cys) c.494T>G (p.Phe165Cys) c.695T>G (p.Phe232Cys) c.581T>G (p.Phe194Cys) c.413T>G (p.Phe138Cys) c.*87T>G (n.*87T>G) | |
1 | g.119033242A>G | CA341436693 | WARS2 | c.752T>C (p.Phe251Ser) c.*118T>C (n.*118T>C) c.698T>C (p.Phe233Ser) c.470T>C (p.Phe157Ser) c.683T>C (p.Phe228Ser) c.494T>C (p.Phe165Ser) c.695T>C (p.Phe232Ser) c.581T>C (p.Phe194Ser) c.413T>C (p.Phe138Ser) c.*87T>C (n.*87T>C) | |
1 | g.119033242A>T | CA341436694 | WARS2 | c.752T>A (p.Phe251Tyr) c.*118T>A (n.*118T>A) c.698T>A (p.Phe233Tyr) c.470T>A (p.Phe157Tyr) c.683T>A (p.Phe228Tyr) c.494T>A (p.Phe165Tyr) c.695T>A (p.Phe232Tyr) c.581T>A (p.Phe194Tyr) c.413T>A (p.Phe138Tyr) c.*87T>A (n.*87T>A) | |
1 | g.119033243A= | CA1192128211 | WARS2 | c.751T= (p.Phe251=) c.*117T= (n.*117T=) c.697T= (p.Phe233=) c.469T= (p.Phe157=) c.682T= (p.Phe228=) c.493T= (p.Phe165=) c.694T= (p.Phe232=) c.580T= (p.Phe194=) c.412T= (p.Phe138=) c.*86T= (n.*86T=) | |
1 | g.119033243A>C | CA341436695 | WARS2 | c.751T>G (p.Phe251Val) c.*117T>G (n.*117T>G) c.697T>G (p.Phe233Val) c.469T>G (p.Phe157Val) c.682T>G (p.Phe228Val) c.493T>G (p.Phe165Val) c.694T>G (p.Phe232Val) c.580T>G (p.Phe194Val) c.412T>G (p.Phe138Val) c.*86T>G (n.*86T>G) | |
1 | g.119033243A>G | CA341436696 | WARS2 | c.751T>C (p.Phe251Leu) c.*117T>C (n.*117T>C) c.697T>C (p.Phe233Leu) c.469T>C (p.Phe157Leu) c.682T>C (p.Phe228Leu) c.493T>C (p.Phe165Leu) c.694T>C (p.Phe232Leu) c.580T>C (p.Phe194Leu) c.412T>C (p.Phe138Leu) c.*86T>C (n.*86T>C) | ClinVar |
1 | g.119033243A>T | CA341436697 | WARS2 | c.751T>A (p.Phe251Ile) c.*117T>A (n.*117T>A) c.697T>A (p.Phe233Ile) c.469T>A (p.Phe157Ile) c.682T>A (p.Phe228Ile) c.493T>A (p.Phe165Ile) c.694T>A (p.Phe232Ile) c.580T>A (p.Phe194Ile) c.412T>A (p.Phe138Ile) c.*86T>A (n.*86T>A) | dbSNP |
1 | g.119033244T>A | CA341436698 | WARS2 | c.750A>T (p.Lys250Asn) c.*116A>T (n.*116A>T) c.696A>T (p.Lys232Asn) c.468A>T (p.Lys156Asn) c.681A>T (p.Lys227Asn) c.492A>T (p.Lys164Asn) c.693A>T (p.Lys231Asn) c.579A>T (p.Lys193Asn) c.411A>T (p.Lys137Asn) c.*85A>T (n.*85A>T) | |
1 | g.119033244T>C | CA420192792 | WARS2 | c.750A>G (p.Lys250=) c.*116A>G (n.*116A>G) c.696A>G (p.Lys232=) c.468A>G (p.Lys156=) c.681A>G (p.Lys227=) c.492A>G (p.Lys164=) c.693A>G (p.Lys231=) c.579A>G (p.Lys193=) c.411A>G (p.Lys137=) c.*85A>G (n.*85A>G) | |
1 | g.119033244T>G | CA341436699 | WARS2 | c.750A>C (p.Lys250Asn) c.*116A>C (n.*116A>C) c.696A>C (p.Lys232Asn) c.468A>C (p.Lys156Asn) c.681A>C (p.Lys227Asn) c.492A>C (p.Lys164Asn) c.693A>C (p.Lys231Asn) c.579A>C (p.Lys193Asn) c.411A>C (p.Lys137Asn) c.*85A>C (n.*85A>C) | |
1 | g.119033246del | CA2647370036 | WARS2 | c.750del (p.Lys250AsnfsTer6) c.*116del (n.*116del) c.696del (p.Lys232AsnfsTer6) c.468del (p.Lys156AsnfsTer6) c.681del (p.Lys227AsnfsTer6) c.492del (p.Lys164AsnfsTer6) c.693del (p.Lys231AsnfsTer6) c.579del (p.Lys193AsnfsTer6) c.411del (p.Lys137AsnfsTer6) c.*85del (n.*85del) | gnomAD v4 |
1 | g.119033245T>A | CA341436700 | WARS2 | c.749A>T (p.Lys250Ile) c.*115A>T (n.*115A>T) c.695A>T (p.Lys232Ile) c.467A>T (p.Lys156Ile) c.680A>T (p.Lys227Ile) c.491A>T (p.Lys164Ile) c.692A>T (p.Lys231Ile) c.578A>T (p.Lys193Ile) c.410A>T (p.Lys137Ile) c.*84A>T (n.*84A>T) | |
1 | g.119033245T>C | CA341436701 | WARS2 | c.749A>G (p.Lys250Arg) c.*115A>G (n.*115A>G) c.695A>G (p.Lys232Arg) c.467A>G (p.Lys156Arg) c.680A>G (p.Lys227Arg) c.491A>G (p.Lys164Arg) c.692A>G (p.Lys231Arg) c.578A>G (p.Lys193Arg) c.410A>G (p.Lys137Arg) c.*84A>G (n.*84A>G) | |
1 | g.119033245T>G | CA341436702 | WARS2 | c.749A>C (p.Lys250Thr) c.*115A>C (n.*115A>C) c.695A>C (p.Lys232Thr) c.467A>C (p.Lys156Thr) c.680A>C (p.Lys227Thr) c.491A>C (p.Lys164Thr) c.692A>C (p.Lys231Thr) c.578A>C (p.Lys193Thr) c.410A>C (p.Lys137Thr) c.*84A>C (n.*84A>C) | |
1 | g.119033246T>A | CA341436705 | WARS2 | c.748A>T (p.Lys250Ter) c.*114A>T (n.*114A>T) c.694A>T (p.Lys232Ter) c.466A>T (p.Lys156Ter) c.679A>T (p.Lys227Ter) c.490A>T (p.Lys164Ter) c.691A>T (p.Lys231Ter) c.577A>T (p.Lys193Ter) c.409A>T (p.Lys137Ter) c.*83A>T (n.*83A>T) | |
1 | g.119033246T>C | CA341436703 | WARS2 | c.748A>G (p.Lys250Glu) c.*114A>G (n.*114A>G) c.694A>G (p.Lys232Glu) c.466A>G (p.Lys156Glu) c.679A>G (p.Lys227Glu) c.490A>G (p.Lys164Glu) c.691A>G (p.Lys231Glu) c.577A>G (p.Lys193Glu) c.409A>G (p.Lys137Glu) c.*83A>G (n.*83A>G) | |
1 | g.119033246T>G | CA341436704 | WARS2 | c.748A>C (p.Lys250Gln) c.*114A>C (n.*114A>C) c.694A>C (p.Lys232Gln) c.466A>C (p.Lys156Gln) c.679A>C (p.Lys227Gln) c.490A>C (p.Lys164Gln) c.691A>C (p.Lys231Gln) c.577A>C (p.Lys193Gln) c.409A>C (p.Lys137Gln) c.*83A>C (n.*83A>C) | |
1 | g.119033247C>A | CA341436706 | WARS2 | c.747G>T (p.Gln249His) c.*113G>T (n.*113G>T) c.693G>T (p.Gln231His) c.465G>T (p.Gln155His) c.678G>T (p.Gln226His) c.489G>T (p.Gln163His) c.690G>T (p.Gln230His) c.576G>T (p.Gln192His) c.408G>T (p.Gln136His) c.*82G>T (n.*82G>T) | |
1 | g.119033247C= | CA1192128212 | WARS2 | c.747G= (p.Gln249=) c.*113G= (n.*113G=) c.693G= (p.Gln231=) c.465G= (p.Gln155=) c.678G= (p.Gln226=) c.489G= (p.Gln163=) c.690G= (p.Gln230=) c.576G= (p.Gln192=) c.408G= (p.Gln136=) c.*82G= (n.*82G=) | |
1 | g.119033247C>G | CA341436707 | WARS2 | c.747G>C (p.Gln249His) c.*113G>C (n.*113G>C) c.693G>C (p.Gln231His) c.465G>C (p.Gln155His) c.678G>C (p.Gln226His) c.489G>C (p.Gln163His) c.690G>C (p.Gln230His) c.576G>C (p.Gln192His) c.408G>C (p.Gln136His) c.*82G>C (n.*82G>C) | |
1 | g.119033247C>T | CA420192799 | WARS2 | c.747G>A (p.Gln249=) c.*113G>A (n.*113G>A) c.693G>A (p.Gln231=) c.465G>A (p.Gln155=) c.678G>A (p.Gln226=) c.489G>A (p.Gln163=) c.690G>A (p.Gln230=) c.576G>A (p.Gln192=) c.408G>A (p.Gln136=) c.*82G>A (n.*82G>A) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.119033248T>A | CA341436708 | WARS2 | c.746A>T (p.Gln249Leu) c.*112A>T (n.*112A>T) c.692A>T (p.Gln231Leu) c.464A>T (p.Gln155Leu) c.677A>T (p.Gln226Leu) c.488A>T (p.Gln163Leu) c.689A>T (p.Gln230Leu) c.575A>T (p.Gln192Leu) c.407A>T (p.Gln136Leu) c.*81A>T (n.*81A>T) | |
1 | g.119033248T>C | CA341436709 | WARS2 | c.746A>G (p.Gln249Arg) c.*112A>G (n.*112A>G) c.692A>G (p.Gln231Arg) c.464A>G (p.Gln155Arg) c.677A>G (p.Gln226Arg) c.488A>G (p.Gln163Arg) c.689A>G (p.Gln230Arg) c.575A>G (p.Gln192Arg) c.407A>G (p.Gln136Arg) c.*81A>G (n.*81A>G) | |
1 | g.119033248T>G | CA341436710 | WARS2 | c.746A>C (p.Gln249Pro) c.*112A>C (n.*112A>C) c.692A>C (p.Gln231Pro) c.464A>C (p.Gln155Pro) c.677A>C (p.Gln226Pro) c.488A>C (p.Gln163Pro) c.689A>C (p.Gln230Pro) c.575A>C (p.Gln192Pro) c.407A>C (p.Gln136Pro) c.*81A>C (n.*81A>C) | |
1 | g.119033249G>A | CA341436711 | WARS2 | c.745C>T (p.Gln249Ter) c.*111C>T (n.*111C>T) c.691C>T (p.Gln231Ter) c.463C>T (p.Gln155Ter) c.676C>T (p.Gln226Ter) c.487C>T (p.Gln163Ter) c.688C>T (p.Gln230Ter) c.574C>T (p.Gln192Ter) c.406C>T (p.Gln136Ter) c.*80C>T (n.*80C>T) | COSMIC |
1 | g.119033249G>C | CA341436712 | WARS2 | c.745C>G (p.Gln249Glu) c.*111C>G (n.*111C>G) c.691C>G (p.Gln231Glu) c.463C>G (p.Gln155Glu) c.676C>G (p.Gln226Glu) c.487C>G (p.Gln163Glu) c.688C>G (p.Gln230Glu) c.574C>G (p.Gln192Glu) c.406C>G (p.Gln136Glu) c.*80C>G (n.*80C>G) | |
1 | g.119033249G>T | CA341436713 | WARS2 | c.745C>A (p.Gln249Lys) c.*111C>A (n.*111C>A) c.691C>A (p.Gln231Lys) c.463C>A (p.Gln155Lys) c.676C>A (p.Gln226Lys) c.487C>A (p.Gln163Lys) c.688C>A (p.Gln230Lys) c.574C>A (p.Gln192Lys) c.406C>A (p.Gln136Lys) c.*80C>A (n.*80C>A) | |
1 | g.119033250C>A | CA420192804 | WARS2 | c.744G>T (p.Val248=) c.*110G>T (n.*110G>T) c.690G>T (p.Val230=) c.462G>T (p.Val154=) c.675G>T (p.Val225=) c.486G>T (p.Val162=) c.687G>T (p.Val229=) c.573G>T (p.Val191=) c.405G>T (p.Val135=) c.*79G>T (n.*79G>T) | |
1 | g.119033250C= | CA1192128213 | WARS2 | c.744G= (p.Val248=) c.*110G= (n.*110G=) c.690G= (p.Val230=) c.462G= (p.Val154=) c.675G= (p.Val225=) c.486G= (p.Val162=) c.687G= (p.Val229=) c.573G= (p.Val191=) c.405G= (p.Val135=) c.*79G= (n.*79G=) | |
1 | g.119033250C>G | CA420192806 | WARS2 | c.744G>C (p.Val248=) c.*110G>C (n.*110G>C) c.690G>C (p.Val230=) c.462G>C (p.Val154=) c.675G>C (p.Val225=) c.486G>C (p.Val162=) c.687G>C (p.Val229=) c.573G>C (p.Val191=) c.405G>C (p.Val135=) c.*79G>C (n.*79G>C) | |
1 | g.119033250C>T | CA1035227 | WARS2 | c.744G>A (p.Val248=) c.*110G>A (n.*110G>A) c.690G>A (p.Val230=) c.462G>A (p.Val154=) c.675G>A (p.Val225=) c.486G>A (p.Val162=) c.687G>A (p.Val229=) c.573G>A (p.Val191=) c.405G>A (p.Val135=) c.*79G>A (n.*79G>A) | dbSNP ExAC gnomAD v4 |
1 | g.119033251A= | CA1192128214 | WARS2 | c.743T= (p.Val248=) c.*109T= (n.*109T=) c.689T= (p.Val230=) c.461T= (p.Val154=) c.674T= (p.Val225=) c.485T= (p.Val162=) c.686T= (p.Val229=) c.572T= (p.Val191=) c.404T= (p.Val135=) c.*78T= (n.*78T=) | |
1 | g.119033251A>C | CA341436714 | WARS2 | c.743T>G (p.Val248Gly) c.*109T>G (n.*109T>G) c.689T>G (p.Val230Gly) c.461T>G (p.Val154Gly) c.674T>G (p.Val225Gly) c.485T>G (p.Val162Gly) c.686T>G (p.Val229Gly) c.572T>G (p.Val191Gly) c.404T>G (p.Val135Gly) c.*78T>G (n.*78T>G) | |
1 | g.119033251A>G | CA341436715 | WARS2 | c.743T>C (p.Val248Ala) c.*109T>C (n.*109T>C) c.689T>C (p.Val230Ala) c.461T>C (p.Val154Ala) c.674T>C (p.Val225Ala) c.485T>C (p.Val162Ala) c.686T>C (p.Val229Ala) c.572T>C (p.Val191Ala) c.404T>C (p.Val135Ala) c.*78T>C (n.*78T>C) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.119033251A>T | CA341436716 | WARS2 | c.743T>A (p.Val248Glu) c.*109T>A (n.*109T>A) c.689T>A (p.Val230Glu) c.461T>A (p.Val154Glu) c.674T>A (p.Val225Glu) c.485T>A (p.Val162Glu) c.686T>A (p.Val229Glu) c.572T>A (p.Val191Glu) c.404T>A (p.Val135Glu) c.*78T>A (n.*78T>A) | |
1 | g.119033252C>A | CA341436718 | WARS2 | c.742G>T (p.Val248Leu) c.*108G>T (n.*108G>T) c.688G>T (p.Val230Leu) c.460G>T (p.Val154Leu) c.673G>T (p.Val225Leu) c.484G>T (p.Val162Leu) c.685G>T (p.Val229Leu) c.571G>T (p.Val191Leu) c.403G>T (p.Val135Leu) c.*77G>T (n.*77G>T) | |
1 | g.119033252C>G | CA341436719 | WARS2 | c.742G>C (p.Val248Leu) c.*108G>C (n.*108G>C) c.688G>C (p.Val230Leu) c.460G>C (p.Val154Leu) c.673G>C (p.Val225Leu) c.484G>C (p.Val162Leu) c.685G>C (p.Val229Leu) c.571G>C (p.Val191Leu) c.403G>C (p.Val135Leu) c.*77G>C (n.*77G>C) | |
1 | g.119033252C>T | CA341436717 | WARS2 | c.742G>A (p.Val248Met) c.*108G>A (n.*108G>A) c.688G>A (p.Val230Met) c.460G>A (p.Val154Met) c.673G>A (p.Val225Met) c.484G>A (p.Val162Met) c.685G>A (p.Val229Met) c.571G>A (p.Val191Met) c.403G>A (p.Val135Met) c.*77G>A (n.*77G>A) | |
1 | g.119033253T>A | CA420192810 | WARS2 | c.741A>T (p.Ile247=) c.*107A>T (n.*107A>T) c.687A>T (p.Ile229=) c.459A>T (p.Ile153=) c.672A>T (p.Ile224=) c.483A>T (p.Ile161=) c.684A>T (p.Ile228=) c.570A>T (p.Ile190=) c.402A>T (p.Ile134=) c.*76A>T (n.*76A>T) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.119033253T>C | CA341436720 | WARS2 | c.741A>G (p.Ile247Met) c.*107A>G (n.*107A>G) c.687A>G (p.Ile229Met) c.459A>G (p.Ile153Met) c.672A>G (p.Ile224Met) c.483A>G (p.Ile161Met) c.684A>G (p.Ile228Met) c.570A>G (p.Ile190Met) c.402A>G (p.Ile134Met) c.*76A>G (n.*76A>G) | |
1 | g.119033253T>G | CA420192812 | WARS2 | c.741A>C (p.Ile247=) c.*107A>C (n.*107A>C) c.687A>C (p.Ile229=) c.459A>C (p.Ile153=) c.672A>C (p.Ile224=) c.483A>C (p.Ile161=) c.684A>C (p.Ile228=) c.570A>C (p.Ile190=) c.402A>C (p.Ile134=) c.*76A>C (n.*76A>C) | |
1 | g.119033253T= | CA1192128215 | WARS2 | c.741A= (p.Ile247=) c.*107A= (n.*107A=) c.687A= (p.Ile229=) c.459A= (p.Ile153=) c.672A= (p.Ile224=) c.483A= (p.Ile161=) c.684A= (p.Ile228=) c.570A= (p.Ile190=) c.402A= (p.Ile134=) c.*76A= (n.*76A=) | |
1 | g.119033254A>C | CA341436721 | WARS2 | c.740T>G (p.Ile247Arg) c.*106T>G (n.*106T>G) c.686T>G (p.Ile229Arg) c.458T>G (p.Ile153Arg) c.671T>G (p.Ile224Arg) c.482T>G (p.Ile161Arg) c.683T>G (p.Ile228Arg) c.569T>G (p.Ile190Arg) c.401T>G (p.Ile134Arg) c.*75T>G (n.*75T>G) | |
1 | g.119033254A>G | CA341436722 | WARS2 | c.740T>C (p.Ile247Thr) c.*106T>C (n.*106T>C) c.686T>C (p.Ile229Thr) c.458T>C (p.Ile153Thr) c.671T>C (p.Ile224Thr) c.482T>C (p.Ile161Thr) c.683T>C (p.Ile228Thr) c.569T>C (p.Ile190Thr) c.401T>C (p.Ile134Thr) c.*75T>C (n.*75T>C) | gnomAD v4 |
1 | g.119033254A>T | CA341436723 | WARS2 | c.740T>A (p.Ile247Lys) c.*106T>A (n.*106T>A) c.686T>A (p.Ile229Lys) c.458T>A (p.Ile153Lys) c.671T>A (p.Ile224Lys) c.482T>A (p.Ile161Lys) c.683T>A (p.Ile228Lys) c.569T>A (p.Ile190Lys) c.401T>A (p.Ile134Lys) c.*75T>A (n.*75T>A) | |
1 | g.119033255T>A | CA341436724 | WARS2 | c.739A>T (p.Ile247Leu) c.*105A>T (n.*105A>T) c.685A>T (p.Ile229Leu) c.457A>T (p.Ile153Leu) c.670A>T (p.Ile224Leu) c.481A>T (p.Ile161Leu) c.682A>T (p.Ile228Leu) c.568A>T (p.Ile190Leu) c.400A>T (p.Ile134Leu) c.*74A>T (n.*74A>T) | gnomAD v4 |
1 | g.119033255T>C | CA341436725 | WARS2 | c.739A>G (p.Ile247Val) c.*105A>G (n.*105A>G) c.685A>G (p.Ile229Val) c.457A>G (p.Ile153Val) c.670A>G (p.Ile224Val) c.481A>G (p.Ile161Val) c.682A>G (p.Ile228Val) c.568A>G (p.Ile190Val) c.400A>G (p.Ile134Val) c.*74A>G (n.*74A>G) | gnomAD v4 |
1 | g.119033255T>G | CA341436726 | WARS2 | c.739A>C (p.Ile247Leu) c.*105A>C (n.*105A>C) c.685A>C (p.Ile229Leu) c.457A>C (p.Ile153Leu) c.670A>C (p.Ile224Leu) c.481A>C (p.Ile161Leu) c.682A>C (p.Ile228Leu) c.568A>C (p.Ile190Leu) c.400A>C (p.Ile134Leu) c.*74A>C (n.*74A>C) | |
1 | g.119033256C>A | CA341436727 | WARS2 | c.738G>T (p.Glu246Asp) c.*104G>T (n.*104G>T) c.684G>T (p.Glu228Asp) c.456G>T (p.Glu152Asp) c.669G>T (p.Glu223Asp) c.480G>T (p.Glu160Asp) c.681G>T (p.Glu227Asp) c.567G>T (p.Glu189Asp) c.399G>T (p.Glu133Asp) c.*73G>T (n.*73G>T) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.119033256C= | CA1192128216 | WARS2 | c.738G= (p.Glu246=) c.*104G= (n.*104G=) c.684G= (p.Glu228=) c.456G= (p.Glu152=) c.669G= (p.Glu223=) c.480G= (p.Glu160=) c.681G= (p.Glu227=) c.567G= (p.Glu189=) c.399G= (p.Glu133=) c.*73G= (n.*73G=) | |
1 | g.119033256C>G | CA341436728 | WARS2 | c.738G>C (p.Glu246Asp) c.*104G>C (n.*104G>C) c.684G>C (p.Glu228Asp) c.456G>C (p.Glu152Asp) c.669G>C (p.Glu223Asp) c.480G>C (p.Glu160Asp) c.681G>C (p.Glu227Asp) c.567G>C (p.Glu189Asp) c.399G>C (p.Glu133Asp) c.*73G>C (n.*73G>C) | gnomAD v4 |
1 | g.119033256C>T | CA420192819 | WARS2 | c.738G>A (p.Glu246=) c.*104G>A (n.*104G>A) c.684G>A (p.Glu228=) c.456G>A (p.Glu152=) c.669G>A (p.Glu223=) c.480G>A (p.Glu160=) c.681G>A (p.Glu227=) c.567G>A (p.Glu189=) c.399G>A (p.Glu133=) c.*73G>A (n.*73G>A) | dbSNP |
1 | g.119033257T>A | CA341436729 | WARS2 | c.737A>T (p.Glu246Val) c.*103A>T (n.*103A>T) c.683A>T (p.Glu228Val) c.455A>T (p.Glu152Val) c.668A>T (p.Glu223Val) c.479A>T (p.Glu160Val) c.680A>T (p.Glu227Val) c.566A>T (p.Glu189Val) c.398A>T (p.Glu133Val) c.*72A>T (n.*72A>T) | |
1 | g.119033257T>C | CA341436730 | WARS2 | c.737A>G (p.Glu246Gly) c.*103A>G (n.*103A>G) c.683A>G (p.Glu228Gly) c.455A>G (p.Glu152Gly) c.668A>G (p.Glu223Gly) c.479A>G (p.Glu160Gly) c.680A>G (p.Glu227Gly) c.566A>G (p.Glu189Gly) c.398A>G (p.Glu133Gly) c.*72A>G (n.*72A>G) | |
1 | g.119033257T>G | CA341436731 | WARS2 | c.737A>C (p.Glu246Ala) c.*103A>C (n.*103A>C) c.683A>C (p.Glu228Ala) c.455A>C (p.Glu152Ala) c.668A>C (p.Glu223Ala) c.479A>C (p.Glu160Ala) c.680A>C (p.Glu227Ala) c.566A>C (p.Glu189Ala) c.398A>C (p.Glu133Ala) c.*72A>C (n.*72A>C) | |
1 | g.119033258C>A | CA341436732 | WARS2 | c.736G>T (p.Glu246Ter) c.*102G>T (n.*102G>T) c.682G>T (p.Glu228Ter) c.454G>T (p.Glu152Ter) c.667G>T (p.Glu223Ter) c.478G>T (p.Glu160Ter) c.679G>T (p.Glu227Ter) c.565G>T (p.Glu189Ter) c.397G>T (p.Glu133Ter) c.*71G>T (n.*71G>T) | |
1 | g.119033258C= | CA1148399470 | WARS2 | c.736G= (p.Glu246=) c.*102G= (n.*102G=) c.682G= (p.Glu228=) c.454G= (p.Glu152=) c.667G= (p.Glu223=) c.478G= (p.Glu160=) c.679G= (p.Glu227=) c.565G= (p.Glu189=) c.397G= (p.Glu133=) c.*71G= (n.*71G=) | |
1 | g.119033258C>G | CA30376566 | WARS2 | c.736G>C (p.Glu246Gln) c.*102G>C (n.*102G>C) c.682G>C (p.Glu228Gln) c.454G>C (p.Glu152Gln) c.667G>C (p.Glu223Gln) c.478G>C (p.Glu160Gln) c.679G>C (p.Glu227Gln) c.565G>C (p.Glu189Gln) c.397G>C (p.Glu133Gln) c.*71G>C (n.*71G>C) | dbSNP gnomAD v4 |
1 | g.119033258C>T | CA341436733 | WARS2 | c.736G>A (p.Glu246Lys) c.*102G>A (n.*102G>A) c.682G>A (p.Glu228Lys) c.454G>A (p.Glu152Lys) c.667G>A (p.Glu223Lys) c.478G>A (p.Glu160Lys) c.679G>A (p.Glu227Lys) c.565G>A (p.Glu189Lys) c.397G>A (p.Glu133Lys) c.*71G>A (n.*71G>A) | gnomAD v4 |
1 | g.119033259C>A | CA341436735 | WARS2 | c.735G>T (p.Glu245Asp) c.*101G>T (n.*101G>T) c.681G>T (p.Glu227Asp) c.453G>T (p.Glu151Asp) c.666G>T (p.Glu222Asp) c.477G>T (p.Glu159Asp) c.678G>T (p.Glu226Asp) c.564G>T (p.Glu188Asp) c.396G>T (p.Glu132Asp) c.*70G>T (n.*70G>T) | |
1 | g.119033259C= | CA1192128217 | WARS2 | c.735G= (p.Glu245=) c.*101G= (n.*101G=) c.681G= (p.Glu227=) c.453G= (p.Glu151=) c.666G= (p.Glu222=) c.477G= (p.Glu159=) c.678G= (p.Glu226=) c.564G= (p.Glu188=) c.396G= (p.Glu132=) c.*70G= (n.*70G=) | |
1 | g.119033259C>G | CA341436734 | WARS2 | c.735G>C (p.Glu245Asp) c.*101G>C (n.*101G>C) c.681G>C (p.Glu227Asp) c.453G>C (p.Glu151Asp) c.666G>C (p.Glu222Asp) c.477G>C (p.Glu159Asp) c.678G>C (p.Glu226Asp) c.564G>C (p.Glu188Asp) c.396G>C (p.Glu132Asp) c.*70G>C (n.*70G>C) | dbSNP gnomAD v4 |
1 | g.119033259C>T | CA420192825 | WARS2 | c.735G>A (p.Glu245=) c.*101G>A (n.*101G>A) c.681G>A (p.Glu227=) c.453G>A (p.Glu151=) c.666G>A (p.Glu222=) c.477G>A (p.Glu159=) c.678G>A (p.Glu226=) c.564G>A (p.Glu188=) c.396G>A (p.Glu132=) c.*70G>A (n.*70G>A) | |
1 | g.119033260T>A | CA341436736 | WARS2 | c.734A>T (p.Glu245Val) c.*100A>T (n.*100A>T) c.680A>T (p.Glu227Val) c.452A>T (p.Glu151Val) c.665A>T (p.Glu222Val) c.476A>T (p.Glu159Val) c.677A>T (p.Glu226Val) c.563A>T (p.Glu188Val) c.395A>T (p.Glu132Val) c.*69A>T (n.*69A>T) | |
1 | g.119033260T>C | CA341436737 | WARS2 | c.734A>G (p.Glu245Gly) c.*100A>G (n.*100A>G) c.680A>G (p.Glu227Gly) c.452A>G (p.Glu151Gly) c.665A>G (p.Glu222Gly) c.476A>G (p.Glu159Gly) c.677A>G (p.Glu226Gly) c.563A>G (p.Glu188Gly) c.395A>G (p.Glu132Gly) c.*69A>G (n.*69A>G) | |
1 | g.119033260T>G | CA341436738 | WARS2 | c.734A>C (p.Glu245Ala) c.*100A>C (n.*100A>C) c.680A>C (p.Glu227Ala) c.452A>C (p.Glu151Ala) c.665A>C (p.Glu222Ala) c.476A>C (p.Glu159Ala) c.677A>C (p.Glu226Ala) c.563A>C (p.Glu188Ala) c.395A>C (p.Glu132Ala) c.*69A>C (n.*69A>C) | |
1 | g.119033261C>A | CA341436739 | WARS2 | c.733G>T (p.Glu245Ter) c.*99G>T (n.*99G>T) c.679G>T (p.Glu227Ter) c.451G>T (p.Glu151Ter) c.664G>T (p.Glu222Ter) c.475G>T (p.Glu159Ter) c.676G>T (p.Glu226Ter) c.562G>T (p.Glu188Ter) c.394G>T (p.Glu132Ter) c.*68G>T (n.*68G>T) | gnomAD v4 |
1 | g.119033261C= | CA1192128218 | WARS2 | c.733G= (p.Glu245=) c.*99G= (n.*99G=) c.679G= (p.Glu227=) c.451G= (p.Glu151=) c.664G= (p.Glu222=) c.475G= (p.Glu159=) c.676G= (p.Glu226=) c.562G= (p.Glu188=) c.394G= (p.Glu132=) c.*68G= (n.*68G=) | |
1 | g.119033261C>G | CA341436740 | WARS2 | c.733G>C (p.Glu245Gln) c.*99G>C (n.*99G>C) c.679G>C (p.Glu227Gln) c.451G>C (p.Glu151Gln) c.664G>C (p.Glu222Gln) c.475G>C (p.Glu159Gln) c.676G>C (p.Glu226Gln) c.562G>C (p.Glu188Gln) c.394G>C (p.Glu132Gln) c.*68G>C (n.*68G>C) | |
1 | g.119033261C>T | CA341436741 | WARS2 | c.733G>A (p.Glu245Lys) c.*99G>A (n.*99G>A) c.679G>A (p.Glu227Lys) c.451G>A (p.Glu151Lys) c.664G>A (p.Glu222Lys) c.475G>A (p.Glu159Lys) c.676G>A (p.Glu226Lys) c.562G>A (p.Glu188Lys) c.394G>A (p.Glu132Lys) c.*68G>A (n.*68G>A) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.119033262T>A | CA420192831 | WARS2 | c.732A>T (p.Pro244=) c.*98A>T (n.*98A>T) c.678A>T (p.Pro226=) c.450A>T (p.Pro150=) c.663A>T (p.Pro221=) c.474A>T (p.Pro158=) c.675A>T (p.Pro225=) c.561A>T (p.Pro187=) c.393A>T (p.Pro131=) c.*67A>T (n.*67A>T) | |
1 | g.119033262T>C | CA420192834 | WARS2 | c.732A>G (p.Pro244=) c.*98A>G (n.*98A>G) c.678A>G (p.Pro226=) c.450A>G (p.Pro150=) c.663A>G (p.Pro221=) c.474A>G (p.Pro158=) c.675A>G (p.Pro225=) c.561A>G (p.Pro187=) c.393A>G (p.Pro131=) c.*67A>G (n.*67A>G) | |
1 | g.119033262T>G | CA420192833 | WARS2 | c.732A>C (p.Pro244=) c.*98A>C (n.*98A>C) c.678A>C (p.Pro226=) c.450A>C (p.Pro150=) c.663A>C (p.Pro221=) c.474A>C (p.Pro158=) c.675A>C (p.Pro225=) c.561A>C (p.Pro187=) c.393A>C (p.Pro131=) c.*67A>C (n.*67A>C) | |
1 | g.119033263G>A | CA341436744 | WARS2 | c.731C>T (p.Pro244Leu) c.*97C>T (n.*97C>T) c.677C>T (p.Pro226Leu) c.449C>T (p.Pro150Leu) c.662C>T (p.Pro221Leu) c.473C>T (p.Pro158Leu) c.674C>T (p.Pro225Leu) c.560C>T (p.Pro187Leu) c.392C>T (p.Pro131Leu) c.*66C>T (n.*66C>T) | |
1 | g.119033263G>C | CA341436742 | WARS2 | c.731C>G (p.Pro244Arg) c.*97C>G (n.*97C>G) c.677C>G (p.Pro226Arg) c.449C>G (p.Pro150Arg) c.662C>G (p.Pro221Arg) c.473C>G (p.Pro158Arg) c.674C>G (p.Pro225Arg) c.560C>G (p.Pro187Arg) c.392C>G (p.Pro131Arg) c.*66C>G (n.*66C>G) | |
1 | g.119033263G>T | CA341436743 | WARS2 | c.731C>A (p.Pro244Gln) c.*97C>A (n.*97C>A) c.677C>A (p.Pro226Gln) c.449C>A (p.Pro150Gln) c.662C>A (p.Pro221Gln) c.473C>A (p.Pro158Gln) c.674C>A (p.Pro225Gln) c.560C>A (p.Pro187Gln) c.392C>A (p.Pro131Gln) c.*66C>A (n.*66C>A) | |
1 | g.119033264G>A | CA1035228 | WARS2 | c.730C>T (p.Pro244Ser) c.*96C>T (n.*96C>T) c.676C>T (p.Pro226Ser) c.448C>T (p.Pro150Ser) c.661C>T (p.Pro221Ser) c.472C>T (p.Pro158Ser) c.673C>T (p.Pro225Ser) c.559C>T (p.Pro187Ser) c.391C>T (p.Pro131Ser) c.*65C>T (n.*65C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.119033264G>C | CA341436745 | WARS2 | c.730C>G (p.Pro244Ala) c.*96C>G (n.*96C>G) c.676C>G (p.Pro226Ala) c.448C>G (p.Pro150Ala) c.661C>G (p.Pro221Ala) c.472C>G (p.Pro158Ala) c.673C>G (p.Pro225Ala) c.559C>G (p.Pro187Ala) c.391C>G (p.Pro131Ala) c.*65C>G (n.*65C>G) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.119033264G= | CA1192128219 | WARS2 | c.730C= (p.Pro244=) c.*96C= (n.*96C=) c.676C= (p.Pro226=) c.448C= (p.Pro150=) c.661C= (p.Pro221=) c.472C= (p.Pro158=) c.673C= (p.Pro225=) c.559C= (p.Pro187=) c.391C= (p.Pro131=) c.*65C= (n.*65C=) | |
1 | g.119033264G>T | CA341436746 | WARS2 | c.730C>A (p.Pro244Thr) c.*96C>A (n.*96C>A) c.676C>A (p.Pro226Thr) c.448C>A (p.Pro150Thr) c.661C>A (p.Pro221Thr) c.472C>A (p.Pro158Thr) c.673C>A (p.Pro225Thr) c.559C>A (p.Pro187Thr) c.391C>A (p.Pro131Thr) c.*65C>A (n.*65C>A) | |
1 | g.119033265G>A | CA420192840 | WARS2 | c.729C>T (p.Ser243=) c.*95C>T (n.*95C>T) c.675C>T (p.Ser225=) c.447C>T (p.Ser149=) c.660C>T (p.Ser220=) c.471C>T (p.Ser157=) c.672C>T (p.Ser224=) c.558C>T (p.Ser186=) c.390C>T (p.Ser130=) c.*64C>T (n.*64C>T) | gnomAD v4 |
1 | g.119033265G>C | CA341436747 | WARS2 | c.729C>G (p.Ser243Arg) c.*95C>G (n.*95C>G) c.675C>G (p.Ser225Arg) c.447C>G (p.Ser149Arg) c.660C>G (p.Ser220Arg) c.471C>G (p.Ser157Arg) c.672C>G (p.Ser224Arg) c.558C>G (p.Ser186Arg) c.390C>G (p.Ser130Arg) c.*64C>G (n.*64C>G) | |
1 | g.119033265G>T | CA341436748 | WARS2 | c.729C>A (p.Ser243Arg) c.*95C>A (n.*95C>A) c.675C>A (p.Ser225Arg) c.447C>A (p.Ser149Arg) c.660C>A (p.Ser220Arg) c.471C>A (p.Ser157Arg) c.672C>A (p.Ser224Arg) c.558C>A (p.Ser186Arg) c.390C>A (p.Ser130Arg) c.*64C>A (n.*64C>A) | |
1 | g.119033265_119033269delinsGCTGT | CA1192128220 | WARS2 | c.725_729delinsACAGC (p.Asp242=) c.*91_*95delinsACAGC (n.*91_*95delinsACAGC) c.671_675delinsACAGC (p.Asp224=) c.443_447delinsACAGC (p.Asp148=) c.656_660delinsACAGC (p.Asp219=) c.467_471delinsACAGC (p.Asp156=) c.668_672delinsACAGC (p.Asp223=) c.554_558delinsACAGC (p.Asp185=) c.386_390delinsACAGC (p.Asp129=) c.*60_*64delinsACAGC (n.*60_*64delinsACAGC) | |
1 | g.119033266C>A | CA341436751 | WARS2 | c.728G>T (p.Ser243Ile) c.*94G>T (n.*94G>T) c.674G>T (p.Ser225Ile) c.446G>T (p.Ser149Ile) c.659G>T (p.Ser220Ile) c.470G>T (p.Ser157Ile) c.671G>T (p.Ser224Ile) c.557G>T (p.Ser186Ile) c.389G>T (p.Ser130Ile) c.*63G>T (n.*63G>T) | |
1 | g.119033266C>G | CA341436749 | WARS2 | c.728G>C (p.Ser243Thr) c.*94G>C (n.*94G>C) c.674G>C (p.Ser225Thr) c.446G>C (p.Ser149Thr) c.659G>C (p.Ser220Thr) c.470G>C (p.Ser157Thr) c.671G>C (p.Ser224Thr) c.557G>C (p.Ser186Thr) c.389G>C (p.Ser130Thr) c.*63G>C (n.*63G>C) | |
1 | g.119033266C>T | CA341436750 | WARS2 | c.728G>A (p.Ser243Asn) c.*94G>A (n.*94G>A) c.674G>A (p.Ser225Asn) c.446G>A (p.Ser149Asn) c.659G>A (p.Ser220Asn) c.470G>A (p.Ser157Asn) c.671G>A (p.Ser224Asn) c.557G>A (p.Ser186Asn) c.389G>A (p.Ser130Asn) c.*63G>A (n.*63G>A) | |
1 | g.119033270_119033273del | CA1006274341 | WARS2 | c.725_728del (p.Asp242AlafsTer5) c.*91_*94del (n.*91_*94del) c.671_674del (p.Asp224AlafsTer5) c.443_446del (p.Asp148AlafsTer5) c.656_659del (p.Asp219AlafsTer5) c.467_470del (p.Asp156AlafsTer5) c.668_671del (p.Asp223AlafsTer5) c.554_557del (p.Asp185AlafsTer5) c.386_389del (p.Asp129AlafsTer5) c.*60_*63del (n.*60_*63del) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.119033267T>A | CA341436752 | WARS2 | c.727A>T (p.Ser243Cys) c.*93A>T (n.*93A>T) c.673A>T (p.Ser225Cys) c.445A>T (p.Ser149Cys) c.658A>T (p.Ser220Cys) c.469A>T (p.Ser157Cys) c.670A>T (p.Ser224Cys) c.556A>T (p.Ser186Cys) c.388A>T (p.Ser130Cys) c.*62A>T (n.*62A>T) | |
1 | g.119033267T>C | CA341436753 | WARS2 | c.727A>G (p.Ser243Gly) c.*93A>G (n.*93A>G) c.673A>G (p.Ser225Gly) c.445A>G (p.Ser149Gly) c.658A>G (p.Ser220Gly) c.469A>G (p.Ser157Gly) c.670A>G (p.Ser224Gly) c.556A>G (p.Ser186Gly) c.388A>G (p.Ser130Gly) c.*62A>G (n.*62A>G) | |
1 | g.119033267T>G | CA341436754 | WARS2 | c.727A>C (p.Ser243Arg) c.*93A>C (n.*93A>C) c.673A>C (p.Ser225Arg) c.445A>C (p.Ser149Arg) c.658A>C (p.Ser220Arg) c.469A>C (p.Ser157Arg) c.670A>C (p.Ser224Arg) c.556A>C (p.Ser186Arg) c.388A>C (p.Ser130Arg) c.*62A>C (n.*62A>C) | |
1 | g.119033268G>A | CA420192846 | WARS2 | c.726C>T (p.Asp242=) c.*92C>T (n.*92C>T) c.672C>T (p.Asp224=) c.444C>T (p.Asp148=) c.657C>T (p.Asp219=) c.468C>T (p.Asp156=) c.669C>T (p.Asp223=) c.555C>T (p.Asp185=) c.387C>T (p.Asp129=) c.*61C>T (n.*61C>T) | |
1 | g.119033268G>C | CA341436755 | WARS2 | c.726C>G (p.Asp242Glu) c.*92C>G (n.*92C>G) c.672C>G (p.Asp224Glu) c.444C>G (p.Asp148Glu) c.657C>G (p.Asp219Glu) c.468C>G (p.Asp156Glu) c.669C>G (p.Asp223Glu) c.555C>G (p.Asp185Glu) c.387C>G (p.Asp129Glu) c.*61C>G (n.*61C>G) | |
1 | g.119033268G>T | CA341436756 | WARS2 | c.726C>A (p.Asp242Glu) c.*92C>A (n.*92C>A) c.672C>A (p.Asp224Glu) c.444C>A (p.Asp148Glu) c.657C>A (p.Asp219Glu) c.468C>A (p.Asp156Glu) c.669C>A (p.Asp223Glu) c.555C>A (p.Asp185Glu) c.387C>A (p.Asp129Glu) c.*61C>A (n.*61C>A) | |
1 | g.119033269T>A | CA341436759 | WARS2 | c.725A>T (p.Asp242Val) c.*91A>T (n.*91A>T) c.671A>T (p.Asp224Val) c.443A>T (p.Asp148Val) c.656A>T (p.Asp219Val) c.467A>T (p.Asp156Val) c.668A>T (p.Asp223Val) c.554A>T (p.Asp185Val) c.386A>T (p.Asp129Val) c.*60A>T (n.*60A>T) | |
1 | g.119033269T>C | CA341436758 | WARS2 | c.725A>G (p.Asp242Gly) c.*91A>G (n.*91A>G) c.671A>G (p.Asp224Gly) c.443A>G (p.Asp148Gly) c.656A>G (p.Asp219Gly) c.467A>G (p.Asp156Gly) c.668A>G (p.Asp223Gly) c.554A>G (p.Asp185Gly) c.386A>G (p.Asp129Gly) c.*60A>G (n.*60A>G) | |
1 | g.119033269T>G | CA341436757 | WARS2 | c.725A>C (p.Asp242Ala) c.*91A>C (n.*91A>C) c.671A>C (p.Asp224Ala) c.443A>C (p.Asp148Ala) c.656A>C (p.Asp219Ala) c.467A>C (p.Asp156Ala) c.668A>C (p.Asp223Ala) c.554A>C (p.Asp185Ala) c.386A>C (p.Asp129Ala) c.*60A>C (n.*60A>C) | |
1 | g.119033270C>A | CA341436760 | WARS2 | c.724G>T (p.Asp242Tyr) c.*90G>T (n.*90G>T) c.670G>T (p.Asp224Tyr) c.442G>T (p.Asp148Tyr) c.655G>T (p.Asp219Tyr) c.466G>T (p.Asp156Tyr) c.667G>T (p.Asp223Tyr) c.553G>T (p.Asp185Tyr) c.385G>T (p.Asp129Tyr) c.*59G>T (n.*59G>T) | |
1 | g.119033270C>G | CA341436761 | WARS2 | c.724G>C (p.Asp242His) c.*90G>C (n.*90G>C) c.670G>C (p.Asp224His) c.442G>C (p.Asp148His) c.655G>C (p.Asp219His) c.466G>C (p.Asp156His) c.667G>C (p.Asp223His) c.553G>C (p.Asp185His) c.385G>C (p.Asp129His) c.*59G>C (n.*59G>C) | |
1 | g.119033270C>T | CA341436762 | WARS2 | c.724G>A (p.Asp242Asn) c.*90G>A (n.*90G>A) c.670G>A (p.Asp224Asn) c.442G>A (p.Asp148Asn) c.655G>A (p.Asp219Asn) c.466G>A (p.Asp156Asn) c.667G>A (p.Asp223Asn) c.553G>A (p.Asp185Asn) c.385G>A (p.Asp129Asn) c.*59G>A (n.*59G>A) | |
1 | g.119033271T>A | CA420192852 | WARS2 | c.723A>T (p.Thr241=) c.*89A>T (n.*89A>T) c.669A>T (p.Thr223=) c.441A>T (p.Thr147=) c.654A>T (p.Thr218=) c.465A>T (p.Thr155=) c.666A>T (p.Thr222=) c.552A>T (p.Thr184=) c.384A>T (p.Thr128=) c.*58A>T (n.*58A>T) | gnomAD v4 |
1 | g.119033271T>C | CA420192850 | WARS2 | c.723A>G (p.Thr241=) c.*89A>G (n.*89A>G) c.669A>G (p.Thr223=) c.441A>G (p.Thr147=) c.654A>G (p.Thr218=) c.465A>G (p.Thr155=) c.666A>G (p.Thr222=) c.552A>G (p.Thr184=) c.384A>G (p.Thr128=) c.*58A>G (n.*58A>G) | |
1 | g.119033271T>G | CA420192849 | WARS2 | c.723A>C (p.Thr241=) c.*89A>C (n.*89A>C) c.669A>C (p.Thr223=) c.441A>C (p.Thr147=) c.654A>C (p.Thr218=) c.465A>C (p.Thr155=) c.666A>C (p.Thr222=) c.552A>C (p.Thr184=) c.384A>C (p.Thr128=) c.*58A>C (n.*58A>C) | |
1 | g.119033272G>A | CA341436763 | WARS2 | c.722C>T (p.Thr241Ile) c.*88C>T (n.*88C>T) c.668C>T (p.Thr223Ile) c.440C>T (p.Thr147Ile) c.653C>T (p.Thr218Ile) c.464C>T (p.Thr155Ile) c.665C>T (p.Thr222Ile) c.551C>T (p.Thr184Ile) c.383C>T (p.Thr128Ile) c.*57C>T (n.*57C>T) | dbSNP gnomAD v4 |
1 | g.119033272G>C | CA341436764 | WARS2 | c.722C>G (p.Thr241Arg) c.*88C>G (n.*88C>G) c.668C>G (p.Thr223Arg) c.440C>G (p.Thr147Arg) c.653C>G (p.Thr218Arg) c.464C>G (p.Thr155Arg) c.665C>G (p.Thr222Arg) c.551C>G (p.Thr184Arg) c.383C>G (p.Thr128Arg) c.*57C>G (n.*57C>G) | gnomAD v4 |
1 | g.119033272G= | CA1192128221 | WARS2 | c.722C= (p.Thr241=) c.*88C= (n.*88C=) c.668C= (p.Thr223=) c.440C= (p.Thr147=) c.653C= (p.Thr218=) c.464C= (p.Thr155=) c.665C= (p.Thr222=) c.551C= (p.Thr184=) c.383C= (p.Thr128=) c.*57C= (n.*57C=) | |
1 | g.119033272G>T | CA341436765 | WARS2 | c.722C>A (p.Thr241Lys) c.*88C>A (n.*88C>A) c.668C>A (p.Thr223Lys) c.440C>A (p.Thr147Lys) c.653C>A (p.Thr218Lys) c.464C>A (p.Thr155Lys) c.665C>A (p.Thr222Lys) c.551C>A (p.Thr184Lys) c.383C>A (p.Thr128Lys) c.*57C>A (n.*57C>A) | |
1 | g.119033273T>A | CA341436768 | WARS2 | c.721A>T (p.Thr241Ser) c.*87A>T (n.*87A>T) c.667A>T (p.Thr223Ser) c.439A>T (p.Thr147Ser) c.652A>T (p.Thr218Ser) c.463A>T (p.Thr155Ser) c.664A>T (p.Thr222Ser) c.550A>T (p.Thr184Ser) c.382A>T (p.Thr128Ser) c.*56A>T (n.*56A>T) | |
1 | g.119033273T>C | CA341436766 | WARS2 | c.721A>G (p.Thr241Ala) c.*87A>G (n.*87A>G) c.667A>G (p.Thr223Ala) c.439A>G (p.Thr147Ala) c.652A>G (p.Thr218Ala) c.463A>G (p.Thr155Ala) c.664A>G (p.Thr222Ala) c.550A>G (p.Thr184Ala) c.382A>G (p.Thr128Ala) c.*56A>G (n.*56A>G) | |
1 | g.119033273T>G | CA341436767 | WARS2 | c.721A>C (p.Thr241Pro) c.*87A>C (n.*87A>C) c.667A>C (p.Thr223Pro) c.439A>C (p.Thr147Pro) c.652A>C (p.Thr218Pro) c.463A>C (p.Thr155Pro) c.664A>C (p.Thr222Pro) c.550A>C (p.Thr184Pro) c.382A>C (p.Thr128Pro) c.*56A>C (n.*56A>C) | |
1 | g.119033274T>A | CA420192857 | WARS2 | c.720A>T (p.Ile240=) c.*86A>T (n.*86A>T) c.666A>T (p.Ile222=) c.438A>T (p.Ile146=) c.651A>T (p.Ile217=) c.462A>T (p.Ile154=) c.663A>T (p.Ile221=) c.549A>T (p.Ile183=) c.381A>T (p.Ile127=) c.*55A>T (n.*55A>T) | |
1 | g.119033274T>C | CA341436769 | WARS2 | c.720A>G (p.Ile240Met) c.*86A>G (n.*86A>G) c.666A>G (p.Ile222Met) c.438A>G (p.Ile146Met) c.651A>G (p.Ile217Met) c.462A>G (p.Ile154Met) c.663A>G (p.Ile221Met) c.549A>G (p.Ile183Met) c.381A>G (p.Ile127Met) c.*55A>G (n.*55A>G) | |
1 | g.119033274T>G | CA420192858 | WARS2 | c.720A>C (p.Ile240=) c.*86A>C (n.*86A>C) c.666A>C (p.Ile222=) c.438A>C (p.Ile146=) c.651A>C (p.Ile217=) c.462A>C (p.Ile154=) c.663A>C (p.Ile221=) c.549A>C (p.Ile183=) c.381A>C (p.Ile127=) c.*55A>C (n.*55A>C) | |
1 | g.119033275A>C | CA341436770 | WARS2 | c.719T>G (p.Ile240Arg) c.*85T>G (n.*85T>G) c.665T>G (p.Ile222Arg) c.437T>G (p.Ile146Arg) c.650T>G (p.Ile217Arg) c.461T>G (p.Ile154Arg) c.662T>G (p.Ile221Arg) c.548T>G (p.Ile183Arg) c.380T>G (p.Ile127Arg) c.*54T>G (n.*54T>G) | |
1 | g.119033275A>G | CA341436771 | WARS2 | c.719T>C (p.Ile240Thr) c.*85T>C (n.*85T>C) c.665T>C (p.Ile222Thr) c.437T>C (p.Ile146Thr) c.650T>C (p.Ile217Thr) c.461T>C (p.Ile154Thr) c.662T>C (p.Ile221Thr) c.548T>C (p.Ile183Thr) c.380T>C (p.Ile127Thr) c.*54T>C (n.*54T>C) | |
1 | g.119033275A>T | CA341436772 | WARS2 | c.719T>A (p.Ile240Lys) c.*85T>A (n.*85T>A) c.665T>A (p.Ile222Lys) c.437T>A (p.Ile146Lys) c.650T>A (p.Ile217Lys) c.461T>A (p.Ile154Lys) c.662T>A (p.Ile221Lys) c.548T>A (p.Ile183Lys) c.380T>A (p.Ile127Lys) c.*54T>A (n.*54T>A) | |
1 | g.119033276T>A | CA341436773 | WARS2 | c.718A>T (p.Ile240Leu) c.*84A>T (n.*84A>T) c.664A>T (p.Ile222Leu) c.436A>T (p.Ile146Leu) c.649A>T (p.Ile217Leu) c.460A>T (p.Ile154Leu) c.661A>T (p.Ile221Leu) c.547A>T (p.Ile183Leu) c.379A>T (p.Ile127Leu) c.*53A>T (n.*53A>T) | |
1 | g.119033276T>C | CA341436774 | WARS2 | c.718A>G (p.Ile240Val) c.*84A>G (n.*84A>G) c.664A>G (p.Ile222Val) c.436A>G (p.Ile146Val) c.649A>G (p.Ile217Val) c.460A>G (p.Ile154Val) c.661A>G (p.Ile221Val) c.547A>G (p.Ile183Val) c.379A>G (p.Ile127Val) c.*53A>G (n.*53A>G) | dbSNP gnomAD v4 |
1 | g.119033276T>G | CA341436775 | WARS2 | c.718A>C (p.Ile240Leu) c.*84A>C (n.*84A>C) c.664A>C (p.Ile222Leu) c.436A>C (p.Ile146Leu) c.649A>C (p.Ile217Leu) c.460A>C (p.Ile154Leu) c.661A>C (p.Ile221Leu) c.547A>C (p.Ile183Leu) c.379A>C (p.Ile127Leu) c.*53A>C (n.*53A>C) | |
1 | g.119033276T= | CA1192128222 | WARS2 | c.718A= (p.Ile240=) c.*84A= (n.*84A=) c.664A= (p.Ile222=) c.436A= (p.Ile146=) c.649A= (p.Ile217=) c.460A= (p.Ile154=) c.661A= (p.Ile221=) c.547A= (p.Ile183=) c.379A= (p.Ile127=) c.*53A= (n.*53A=) | |
1 | g.119033277T>A | CA420192862 | WARS2 | c.717A>T (p.Arg239=) c.*83A>T (n.*83A>T) c.663A>T (p.Arg221=) c.435A>T (p.Arg145=) c.648A>T (p.Arg216=) c.459A>T (p.Arg153=) c.660A>T (p.Arg220=) c.546A>T (p.Arg182=) c.378A>T (p.Arg126=) c.*52A>T (n.*52A>T) | |
1 | g.119033277T>C | CA420192863 | WARS2 | c.717A>G (p.Arg239=) c.*83A>G (n.*83A>G) c.663A>G (p.Arg221=) c.435A>G (p.Arg145=) c.648A>G (p.Arg216=) c.459A>G (p.Arg153=) c.660A>G (p.Arg220=) c.546A>G (p.Arg182=) c.378A>G (p.Arg126=) c.*52A>G (n.*52A>G) | |
1 | g.119033277T>G | CA420192864 | WARS2 | c.717A>C (p.Arg239=) c.*83A>C (n.*83A>C) c.663A>C (p.Arg221=) c.435A>C (p.Arg145=) c.648A>C (p.Arg216=) c.459A>C (p.Arg153=) c.660A>C (p.Arg220=) c.546A>C (p.Arg182=) c.378A>C (p.Arg126=) c.*52A>C (n.*52A>C) | |
1 | g.119033278C>A | CA341436776 | WARS2 | c.716G>T (p.Arg239Leu) c.*82G>T (n.*82G>T) c.662G>T (p.Arg221Leu) c.434G>T (p.Arg145Leu) c.647G>T (p.Arg216Leu) c.458G>T (p.Arg153Leu) c.659G>T (p.Arg220Leu) c.545G>T (p.Arg182Leu) c.377G>T (p.Arg126Leu) c.*51G>T (n.*51G>T) | gnomAD v4 |
1 | g.119033278C= | CA1192128223 | WARS2 | c.716G= (p.Arg239=) c.*82G= (n.*82G=) c.662G= (p.Arg221=) c.434G= (p.Arg145=) c.647G= (p.Arg216=) c.458G= (p.Arg153=) c.659G= (p.Arg220=) c.545G= (p.Arg182=) c.377G= (p.Arg126=) c.*51G= (n.*51G=) | |
1 | g.119033278C>G | CA341436777 | WARS2 | c.716G>C (p.Arg239Pro) c.*82G>C (n.*82G>C) c.662G>C (p.Arg221Pro) c.434G>C (p.Arg145Pro) c.647G>C (p.Arg216Pro) c.458G>C (p.Arg153Pro) c.659G>C (p.Arg220Pro) c.545G>C (p.Arg182Pro) c.377G>C (p.Arg126Pro) c.*51G>C (n.*51G>C) | |
1 | g.119033278C>T | CA1035229 | WARS2 | c.716G>A (p.Arg239Gln) c.*82G>A (n.*82G>A) c.662G>A (p.Arg221Gln) c.434G>A (p.Arg145Gln) c.647G>A (p.Arg216Gln) c.458G>A (p.Arg153Gln) c.659G>A (p.Arg220Gln) c.545G>A (p.Arg182Gln) c.377G>A (p.Arg126Gln) c.*51G>A (n.*51G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.119033279G>A | CA354947 | WARS2 | c.715C>T (p.Arg239Ter) c.*81C>T (n.*81C>T) c.661C>T (p.Arg221Ter) c.433C>T (p.Arg145Ter) c.646C>T (p.Arg216Ter) c.457C>T (p.Arg153Ter) c.658C>T (p.Arg220Ter) c.544C>T (p.Arg182Ter) c.376C>T (p.Arg126Ter) c.*50C>T (n.*50C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.119033279G>C | CA341436778 | WARS2 | c.715C>G (p.Arg239Gly) c.*81C>G (n.*81C>G) c.661C>G (p.Arg221Gly) c.433C>G (p.Arg145Gly) c.646C>G (p.Arg216Gly) c.457C>G (p.Arg153Gly) c.658C>G (p.Arg220Gly) c.544C>G (p.Arg182Gly) c.376C>G (p.Arg126Gly) c.*50C>G (n.*50C>G) | |
1 | g.119033279G= | CA1192128224 | WARS2 | c.715C= (p.Arg239=) c.*81C= (n.*81C=) c.661C= (p.Arg221=) c.433C= (p.Arg145=) c.646C= (p.Arg216=) c.457C= (p.Arg153=) c.658C= (p.Arg220=) c.544C= (p.Arg182=) c.376C= (p.Arg126=) c.*50C= (n.*50C=) | |
1 | g.119033279G>T | CA420192865 | WARS2 | c.715C>A (p.Arg239=) c.*81C>A (n.*81C>A) c.661C>A (p.Arg221=) c.433C>A (p.Arg145=) c.646C>A (p.Arg216=) c.457C>A (p.Arg153=) c.658C>A (p.Arg220=) c.544C>A (p.Arg182=) c.376C>A (p.Arg126=) c.*50C>A (n.*50C>A) | |
1 | g.119033280G>A | CA420192866 | WARS2 | c.714C>T (p.Val238=) c.*80C>T (n.*80C>T) c.660C>T (p.Val220=) c.432C>T (p.Val144=) c.645C>T (p.Val215=) c.456C>T (p.Val152=) c.657C>T (p.Val219=) c.543C>T (p.Val181=) c.375C>T (p.Val125=) c.*49C>T (n.*49C>T) | |
1 | g.119033280G>C | CA420192867 | WARS2 | c.714C>G (p.Val238=) c.*80C>G (n.*80C>G) c.660C>G (p.Val220=) c.432C>G (p.Val144=) c.645C>G (p.Val215=) c.456C>G (p.Val152=) c.657C>G (p.Val219=) c.543C>G (p.Val181=) c.375C>G (p.Val125=) c.*49C>G (n.*49C>G) | |
1 | g.119033280G>T | CA420192868 | WARS2 | c.714C>A (p.Val238=) c.*80C>A (n.*80C>A) c.660C>A (p.Val220=) c.432C>A (p.Val144=) c.645C>A (p.Val215=) c.456C>A (p.Val152=) c.657C>A (p.Val219=) c.543C>A (p.Val181=) c.375C>A (p.Val125=) c.*49C>A (n.*49C>A) | |
1 | g.119033281A>C | CA341436779 | WARS2 | c.713T>G (p.Val238Gly) c.*79T>G (n.*79T>G) c.659T>G (p.Val220Gly) c.431T>G (p.Val144Gly) c.644T>G (p.Val215Gly) c.455T>G (p.Val152Gly) c.656T>G (p.Val219Gly) c.542T>G (p.Val181Gly) c.374T>G (p.Val125Gly) c.*48T>G (n.*48T>G) | |
1 | g.119033281A>G | CA341436781 | WARS2 | c.713T>C (p.Val238Ala) c.*79T>C (n.*79T>C) c.659T>C (p.Val220Ala) c.431T>C (p.Val144Ala) c.644T>C (p.Val215Ala) c.455T>C (p.Val152Ala) c.656T>C (p.Val219Ala) c.542T>C (p.Val181Ala) c.374T>C (p.Val125Ala) c.*48T>C (n.*48T>C) | |
1 | g.119033281A>T | CA341436780 | WARS2 | c.713T>A (p.Val238Asp) c.*79T>A (n.*79T>A) c.659T>A (p.Val220Asp) c.431T>A (p.Val144Asp) c.644T>A (p.Val215Asp) c.455T>A (p.Val152Asp) c.656T>A (p.Val219Asp) c.542T>A (p.Val181Asp) c.374T>A (p.Val125Asp) c.*48T>A (n.*48T>A) | |
1 | g.119033282C>A | CA341436782 | WARS2 | c.712G>T (p.Val238Phe) c.*78G>T (n.*78G>T) c.658G>T (p.Val220Phe) c.430G>T (p.Val144Phe) c.643G>T (p.Val215Phe) c.454G>T (p.Val152Phe) c.655G>T (p.Val219Phe) c.541G>T (p.Val181Phe) c.373G>T (p.Val125Phe) c.*47G>T (n.*47G>T) | gnomAD v4 |
1 | g.119033282C= | CA1192128225 | WARS2 | c.712G= (p.Val238=) c.*78G= (n.*78G=) c.658G= (p.Val220=) c.430G= (p.Val144=) c.643G= (p.Val215=) c.454G= (p.Val152=) c.655G= (p.Val219=) c.541G= (p.Val181=) c.373G= (p.Val125=) c.*47G= (n.*47G=) | |
1 | g.119033282C>G | CA341436784 | WARS2 | c.712G>C (p.Val238Leu) c.*78G>C (n.*78G>C) c.658G>C (p.Val220Leu) c.430G>C (p.Val144Leu) c.643G>C (p.Val215Leu) c.454G>C (p.Val152Leu) c.655G>C (p.Val219Leu) c.541G>C (p.Val181Leu) c.373G>C (p.Val125Leu) c.*47G>C (n.*47G>C) | |
1 | g.119033282C>T | CA341436783 | WARS2 | c.712G>A (p.Val238Ile) c.*78G>A (n.*78G>A) c.658G>A (p.Val220Ile) c.430G>A (p.Val144Ile) c.643G>A (p.Val215Ile) c.454G>A (p.Val152Ile) c.655G>A (p.Val219Ile) c.541G>A (p.Val181Ile) c.373G>A (p.Val125Ile) c.*47G>A (n.*47G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.119033283G>A | CA420192870 | WARS2 | c.711C>T (p.Thr237=) c.*77C>T (n.*77C>T) c.657C>T (p.Thr219=) c.429C>T (p.Thr143=) c.642C>T (p.Thr214=) c.453C>T (p.Thr151=) c.654C>T (p.Thr218=) c.540C>T (p.Thr180=) c.372C>T (p.Thr124=) c.*46C>T (n.*46C>T) | dbSNP gnomAD v4 |
1 | g.119033283G>C | CA420192871 | WARS2 | c.711C>G (p.Thr237=) c.*77C>G (n.*77C>G) c.657C>G (p.Thr219=) c.429C>G (p.Thr143=) c.642C>G (p.Thr214=) c.453C>G (p.Thr151=) c.654C>G (p.Thr218=) c.540C>G (p.Thr180=) c.372C>G (p.Thr124=) c.*46C>G (n.*46C>G) | |
1 | g.119033283G= | CA1192128226 | WARS2 | c.711C= (p.Thr237=) c.*77C= (n.*77C=) c.657C= (p.Thr219=) c.429C= (p.Thr143=) c.642C= (p.Thr214=) c.453C= (p.Thr151=) c.654C= (p.Thr218=) c.540C= (p.Thr180=) c.372C= (p.Thr124=) c.*46C= (n.*46C=) | |
1 | g.119033283G>T | CA420192872 | WARS2 | c.711C>A (p.Thr237=) c.*77C>A (n.*77C>A) c.657C>A (p.Thr219=) c.429C>A (p.Thr143=) c.642C>A (p.Thr214=) c.453C>A (p.Thr151=) c.654C>A (p.Thr218=) c.540C>A (p.Thr180=) c.372C>A (p.Thr124=) c.*46C>A (n.*46C>A) | |
1 | g.119033284G>A | CA341436785 | WARS2 | c.710C>T (p.Thr237Ile) c.*76C>T (n.*76C>T) c.656C>T (p.Thr219Ile) c.428C>T (p.Thr143Ile) c.641C>T (p.Thr214Ile) c.452C>T (p.Thr151Ile) c.653C>T (p.Thr218Ile) c.539C>T (p.Thr180Ile) c.371C>T (p.Thr124Ile) c.*45C>T (n.*45C>T) | |
1 | g.119033284G>C | CA341436786 | WARS2 | c.710C>G (p.Thr237Ser) c.*76C>G (n.*76C>G) c.656C>G (p.Thr219Ser) c.428C>G (p.Thr143Ser) c.641C>G (p.Thr214Ser) c.452C>G (p.Thr151Ser) c.653C>G (p.Thr218Ser) c.539C>G (p.Thr180Ser) c.371C>G (p.Thr124Ser) c.*45C>G (n.*45C>G) | |
1 | g.119033284G>T | CA341436787 | WARS2 | c.710C>A (p.Thr237Asn) c.*76C>A (n.*76C>A) c.656C>A (p.Thr219Asn) c.428C>A (p.Thr143Asn) c.641C>A (p.Thr214Asn) c.452C>A (p.Thr151Asn) c.653C>A (p.Thr218Asn) c.539C>A (p.Thr180Asn) c.371C>A (p.Thr124Asn) c.*45C>A (n.*45C>A) | |
1 | g.119033285T>A | CA341436788 | WARS2 | c.709A>T (p.Thr237Ser) c.*75A>T (n.*75A>T) c.655A>T (p.Thr219Ser) c.427A>T (p.Thr143Ser) c.640A>T (p.Thr214Ser) c.451A>T (p.Thr151Ser) c.652A>T (p.Thr218Ser) c.538A>T (p.Thr180Ser) c.370A>T (p.Thr124Ser) c.*44A>T (n.*44A>T) | |
1 | g.119033285T>C | CA341436789 | WARS2 | c.709A>G (p.Thr237Ala) c.*75A>G (n.*75A>G) c.655A>G (p.Thr219Ala) c.427A>G (p.Thr143Ala) c.640A>G (p.Thr214Ala) c.451A>G (p.Thr151Ala) c.652A>G (p.Thr218Ala) c.538A>G (p.Thr180Ala) c.370A>G (p.Thr124Ala) c.*44A>G (n.*44A>G) | |
1 | g.119033285T>G | CA341436790 | WARS2 | c.709A>C (p.Thr237Pro) c.*75A>C (n.*75A>C) c.655A>C (p.Thr219Pro) c.427A>C (p.Thr143Pro) c.640A>C (p.Thr214Pro) c.451A>C (p.Thr151Pro) c.652A>C (p.Thr218Pro) c.538A>C (p.Thr180Pro) c.370A>C (p.Thr124Pro) c.*44A>C (n.*44A>C) | |
1 | g.119033286G>A | CA420192875 | WARS2 | c.708C>T (p.Ala236=) c.*74C>T (n.*74C>T) c.654C>T (p.Ala218=) c.426C>T (p.Ala142=) c.639C>T (p.Ala213=) c.450C>T (p.Ala150=) c.651C>T (p.Ala217=) c.537C>T (p.Ala179=) c.369C>T (p.Ala123=) c.*43C>T (n.*43C>T) | |
1 | g.119033286G>C | CA420192877 | WARS2 | c.708C>G (p.Ala236=) c.*74C>G (n.*74C>G) c.654C>G (p.Ala218=) c.426C>G (p.Ala142=) c.639C>G (p.Ala213=) c.450C>G (p.Ala150=) c.651C>G (p.Ala217=) c.537C>G (p.Ala179=) c.369C>G (p.Ala123=) c.*43C>G (n.*43C>G) | |
1 | g.119033286G>T | CA420192878 | WARS2 | c.708C>A (p.Ala236=) c.*74C>A (n.*74C>A) c.654C>A (p.Ala218=) c.426C>A (p.Ala142=) c.639C>A (p.Ala213=) c.450C>A (p.Ala150=) c.651C>A (p.Ala217=) c.537C>A (p.Ala179=) c.369C>A (p.Ala123=) c.*43C>A (n.*43C>A) | |
1 | g.119033287G>A | CA341436791 | WARS2 | c.707C>T (p.Ala236Val) c.*73C>T (n.*73C>T) c.653C>T (p.Ala218Val) c.425C>T (p.Ala142Val) c.638C>T (p.Ala213Val) c.449C>T (p.Ala150Val) c.650C>T (p.Ala217Val) c.536C>T (p.Ala179Val) c.368C>T (p.Ala123Val) c.*42C>T (n.*42C>T) | gnomAD v3 gnomAD v4 |
1 | g.119033287G>C | CA341436792 | WARS2 | c.707C>G (p.Ala236Gly) c.*73C>G (n.*73C>G) c.653C>G (p.Ala218Gly) c.425C>G (p.Ala142Gly) c.638C>G (p.Ala213Gly) c.449C>G (p.Ala150Gly) c.650C>G (p.Ala217Gly) c.536C>G (p.Ala179Gly) c.368C>G (p.Ala123Gly) c.*42C>G (n.*42C>G) | |
1 | g.119033287G= | CA1192128227 | WARS2 | c.707C= (p.Ala236=) c.*73C= (n.*73C=) c.653C= (p.Ala218=) c.425C= (p.Ala142=) c.638C= (p.Ala213=) c.449C= (p.Ala150=) c.650C= (p.Ala217=) c.536C= (p.Ala179=) c.368C= (p.Ala123=) c.*42C= (n.*42C=) | |
1 | g.119033287G>T | CA1035230 | WARS2 | c.707C>A (p.Ala236Asp) c.*73C>A (n.*73C>A) c.653C>A (p.Ala218Asp) c.425C>A (p.Ala142Asp) c.638C>A (p.Ala213Asp) c.449C>A (p.Ala150Asp) c.650C>A (p.Ala217Asp) c.536C>A (p.Ala179Asp) c.368C>A (p.Ala123Asp) c.*42C>A (n.*42C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.119033288C>A | CA341436793 | WARS2 | c.706G>T (p.Ala236Ser) c.*72G>T (n.*72G>T) c.652G>T (p.Ala218Ser) c.424G>T (p.Ala142Ser) c.637G>T (p.Ala213Ser) c.448G>T (p.Ala150Ser) c.649G>T (p.Ala217Ser) c.535G>T (p.Ala179Ser) c.367G>T (p.Ala123Ser) c.*41G>T (n.*41G>T) | COSMIC |
1 | g.119033288C>G | CA341436794 | WARS2 | c.706G>C (p.Ala236Pro) c.*72G>C (n.*72G>C) c.652G>C (p.Ala218Pro) c.424G>C (p.Ala142Pro) c.637G>C (p.Ala213Pro) c.448G>C (p.Ala150Pro) c.649G>C (p.Ala217Pro) c.535G>C (p.Ala179Pro) c.367G>C (p.Ala123Pro) c.*41G>C (n.*41G>C) | |
1 | g.119033288C>T | CA341436795 | WARS2 | c.706G>A (p.Ala236Thr) c.*72G>A (n.*72G>A) c.652G>A (p.Ala218Thr) c.424G>A (p.Ala142Thr) c.637G>A (p.Ala213Thr) c.448G>A (p.Ala150Thr) c.649G>A (p.Ala217Thr) c.535G>A (p.Ala179Thr) c.367G>A (p.Ala123Thr) c.*41G>A (n.*41G>A) | |
1 | g.119033289C>A | CA420192881 | WARS2 | c.705G>T (p.Leu235=) c.*71G>T (n.*71G>T) c.651G>T (p.Leu217=) c.423G>T (p.Leu141=) c.636G>T (p.Leu212=) c.447G>T (p.Leu149=) c.648G>T (p.Leu216=) c.534G>T (p.Leu178=) c.366G>T (p.Leu122=) c.*40G>T (n.*40G>T) | |
1 | g.119033289C>G | CA420192882 | WARS2 | c.705G>C (p.Leu235=) c.*71G>C (n.*71G>C) c.651G>C (p.Leu217=) c.423G>C (p.Leu141=) c.636G>C (p.Leu212=) c.447G>C (p.Leu149=) c.648G>C (p.Leu216=) c.534G>C (p.Leu178=) c.366G>C (p.Leu122=) c.*40G>C (n.*40G>C) | |
1 | g.119033289C>T | CA420192883 | WARS2 | c.705G>A (p.Leu235=) c.*71G>A (n.*71G>A) c.651G>A (p.Leu217=) c.423G>A (p.Leu141=) c.636G>A (p.Leu212=) c.447G>A (p.Leu149=) c.648G>A (p.Leu216=) c.534G>A (p.Leu178=) c.366G>A (p.Leu122=) c.*40G>A (n.*40G>A) | gnomAD v4 |
1 | g.119033290A= | CA1192128228 | WARS2 | c.704T= (p.Leu235=) c.*70T= (n.*70T=) c.650T= (p.Leu217=) c.422T= (p.Leu141=) c.635T= (p.Leu212=) c.446T= (p.Leu149=) c.647T= (p.Leu216=) c.533T= (p.Leu178=) c.365T= (p.Leu122=) c.*39T= (n.*39T=) | |
1 | g.119033290A>C | CA341436796 | WARS2 | c.704T>G (p.Leu235Arg) c.*70T>G (n.*70T>G) c.650T>G (p.Leu217Arg) c.422T>G (p.Leu141Arg) c.635T>G (p.Leu212Arg) c.446T>G (p.Leu149Arg) c.647T>G (p.Leu216Arg) c.533T>G (p.Leu178Arg) c.365T>G (p.Leu122Arg) c.*39T>G (n.*39T>G) | |
1 | g.119033290A>G | CA341436798 | WARS2 | c.704T>C (p.Leu235Pro) c.*70T>C (n.*70T>C) c.650T>C (p.Leu217Pro) c.422T>C (p.Leu141Pro) c.635T>C (p.Leu212Pro) c.446T>C (p.Leu149Pro) c.647T>C (p.Leu216Pro) c.533T>C (p.Leu178Pro) c.365T>C (p.Leu122Pro) c.*39T>C (n.*39T>C) | dbSNP |
1 | g.119033290A>T | CA341436797 | WARS2 | c.704T>A (p.Leu235Gln) c.*70T>A (n.*70T>A) c.650T>A (p.Leu217Gln) c.422T>A (p.Leu141Gln) c.635T>A (p.Leu212Gln) c.446T>A (p.Leu149Gln) c.647T>A (p.Leu216Gln) c.533T>A (p.Leu178Gln) c.365T>A (p.Leu122Gln) c.*39T>A (n.*39T>A) | ClinVar |
1 | g.119033291G>A | CA420192884 | WARS2 | c.703C>T (p.Leu235=) c.*69C>T (n.*69C>T) c.649C>T (p.Leu217=) c.421C>T (p.Leu141=) c.634C>T (p.Leu212=) c.445C>T (p.Leu149=) c.646C>T (p.Leu216=) c.532C>T (p.Leu178=) c.364C>T (p.Leu122=) c.*38C>T (n.*38C>T) | |
1 | g.119033291G>C | CA341436799 | WARS2 | c.703C>G (p.Leu235Val) c.*69C>G (n.*69C>G) c.649C>G (p.Leu217Val) c.421C>G (p.Leu141Val) c.634C>G (p.Leu212Val) c.445C>G (p.Leu149Val) c.646C>G (p.Leu216Val) c.532C>G (p.Leu178Val) c.364C>G (p.Leu122Val) c.*38C>G (n.*38C>G) | |
1 | g.119033291G>T | CA341436800 | WARS2 | c.703C>A (p.Leu235Met) c.*69C>A (n.*69C>A) c.649C>A (p.Leu217Met) c.421C>A (p.Leu141Met) c.634C>A (p.Leu212Met) c.445C>A (p.Leu149Met) c.646C>A (p.Leu216Met) c.532C>A (p.Leu178Met) c.364C>A (p.Leu122Met) c.*38C>A (n.*38C>A) | gnomAD v4 |
1 | g.119033292T>A | CA341436801 | WARS2 | c.702A>T (p.Lys234Asn) c.*68A>T (n.*68A>T) c.648A>T (p.Lys216Asn) c.420A>T (p.Lys140Asn) c.633A>T (p.Lys211Asn) c.444A>T (p.Lys148Asn) c.645A>T (p.Lys215Asn) c.531A>T (p.Lys177Asn) c.363A>T (p.Lys121Asn) c.*37A>T (n.*37A>T) | |
1 | g.119033292T>C | CA420192886 | WARS2 | c.702A>G (p.Lys234=) c.*68A>G (n.*68A>G) c.648A>G (p.Lys216=) c.420A>G (p.Lys140=) c.633A>G (p.Lys211=) c.444A>G (p.Lys148=) c.645A>G (p.Lys215=) c.531A>G (p.Lys177=) c.363A>G (p.Lys121=) c.*37A>G (n.*37A>G) | |
1 | g.119033292T>G | CA341436802 | WARS2 | c.702A>C (p.Lys234Asn) c.*68A>C (n.*68A>C) c.648A>C (p.Lys216Asn) c.420A>C (p.Lys140Asn) c.633A>C (p.Lys211Asn) c.444A>C (p.Lys148Asn) c.645A>C (p.Lys215Asn) c.531A>C (p.Lys177Asn) c.363A>C (p.Lys121Asn) c.*37A>C (n.*37A>C) | |
1 | g.119033293T>A | CA341436803 | WARS2 | c.701A>T (p.Lys234Ile) c.*67A>T (n.*67A>T) c.647A>T (p.Lys216Ile) c.419A>T (p.Lys140Ile) c.632A>T (p.Lys211Ile) c.443A>T (p.Lys148Ile) c.644A>T (p.Lys215Ile) c.530A>T (p.Lys177Ile) c.362A>T (p.Lys121Ile) c.*36A>T (n.*36A>T) | |
1 | g.119033293T>C | CA341436804 | WARS2 | c.701A>G (p.Lys234Arg) c.*67A>G (n.*67A>G) c.647A>G (p.Lys216Arg) c.419A>G (p.Lys140Arg) c.632A>G (p.Lys211Arg) c.443A>G (p.Lys148Arg) c.644A>G (p.Lys215Arg) c.530A>G (p.Lys177Arg) c.362A>G (p.Lys121Arg) c.*36A>G (n.*36A>G) | |
1 | g.119033293T>G | CA341436805 | WARS2 | c.701A>C (p.Lys234Thr) c.*67A>C (n.*67A>C) c.647A>C (p.Lys216Thr) c.419A>C (p.Lys140Thr) c.632A>C (p.Lys211Thr) c.443A>C (p.Lys148Thr) c.644A>C (p.Lys215Thr) c.530A>C (p.Lys177Thr) c.362A>C (p.Lys121Thr) c.*36A>C (n.*36A>C) | |
1 | g.119033294T>A | CA341436806 | WARS2 | c.700A>T (p.Lys234Ter) c.*66A>T (n.*66A>T) c.646A>T (p.Lys216Ter) c.418A>T (p.Lys140Ter) c.631A>T (p.Lys211Ter) c.442A>T (p.Lys148Ter) c.643A>T (p.Lys215Ter) c.529A>T (p.Lys177Ter) c.361A>T (p.Lys121Ter) c.*35A>T (n.*35A>T) | |
1 | g.119033294T>C | CA341436807 | WARS2 | c.700A>G (p.Lys234Glu) c.*66A>G (n.*66A>G) c.646A>G (p.Lys216Glu) c.418A>G (p.Lys140Glu) c.631A>G (p.Lys211Glu) c.442A>G (p.Lys148Glu) c.643A>G (p.Lys215Glu) c.529A>G (p.Lys177Glu) c.361A>G (p.Lys121Glu) c.*35A>G (n.*35A>G) | |
1 | g.119033294T>G | CA341436808 | WARS2 | c.700A>C (p.Lys234Gln) c.*66A>C (n.*66A>C) c.646A>C (p.Lys216Gln) c.418A>C (p.Lys140Gln) c.631A>C (p.Lys211Gln) c.442A>C (p.Lys148Gln) c.643A>C (p.Lys215Gln) c.529A>C (p.Lys177Gln) c.361A>C (p.Lys121Gln) c.*35A>C (n.*35A>C) | |
1 | g.119033295G>A | CA420192889 | WARS2 | c.699C>T (p.Asp233=) c.*65C>T (n.*65C>T) c.645C>T (p.Asp215=) c.417C>T (p.Asp139=) c.630C>T (p.Asp210=) c.441C>T (p.Asp147=) c.642C>T (p.Asp214=) c.528C>T (p.Asp176=) c.360C>T (p.Asp120=) c.*34C>T (n.*34C>T) | |
1 | g.119033295G>C | CA341436810 | WARS2 | c.699C>G (p.Asp233Glu) c.*65C>G (n.*65C>G) c.645C>G (p.Asp215Glu) c.417C>G (p.Asp139Glu) c.630C>G (p.Asp210Glu) c.441C>G (p.Asp147Glu) c.642C>G (p.Asp214Glu) c.528C>G (p.Asp176Glu) c.360C>G (p.Asp120Glu) c.*34C>G (n.*34C>G) | |
1 | g.119033295G>T | CA341436809 | WARS2 | c.699C>A (p.Asp233Glu) c.*65C>A (n.*65C>A) c.645C>A (p.Asp215Glu) c.417C>A (p.Asp139Glu) c.630C>A (p.Asp210Glu) c.441C>A (p.Asp147Glu) c.642C>A (p.Asp214Glu) c.528C>A (p.Asp176Glu) c.360C>A (p.Asp120Glu) c.*34C>A (n.*34C>A) | |
1 | g.119033296T>A | CA341436811 | WARS2 | c.698A>T (p.Asp233Val) c.*64A>T (n.*64A>T) c.644A>T (p.Asp215Val) c.416A>T (p.Asp139Val) c.629A>T (p.Asp210Val) c.440A>T (p.Asp147Val) c.641A>T (p.Asp214Val) c.527A>T (p.Asp176Val) c.359A>T (p.Asp120Val) c.*33A>T (n.*33A>T) | |
1 | g.119033296T>C | CA341436812 | WARS2 | c.698A>G (p.Asp233Gly) c.*64A>G (n.*64A>G) c.644A>G (p.Asp215Gly) c.416A>G (p.Asp139Gly) c.629A>G (p.Asp210Gly) c.440A>G (p.Asp147Gly) c.641A>G (p.Asp214Gly) c.527A>G (p.Asp176Gly) c.359A>G (p.Asp120Gly) c.*33A>G (n.*33A>G) | |
1 | g.119033296T>G | CA341436813 | WARS2 | c.698A>C (p.Asp233Ala) c.*64A>C (n.*64A>C) c.644A>C (p.Asp215Ala) c.416A>C (p.Asp139Ala) c.629A>C (p.Asp210Ala) c.440A>C (p.Asp147Ala) c.641A>C (p.Asp214Ala) c.527A>C (p.Asp176Ala) c.359A>C (p.Asp120Ala) c.*33A>C (n.*33A>C) | |
1 | g.119033297C>A | CA341436814 | WARS2 | c.697G>T (p.Asp233Tyr) c.*63G>T (n.*63G>T) n.621G>T c.643G>T (p.Asp215Tyr) c.415G>T (p.Asp139Tyr) c.628G>T (p.Asp210Tyr) c.439G>T (p.Asp147Tyr) c.640G>T (p.Asp214Tyr) c.526G>T (p.Asp176Tyr) c.358G>T (p.Asp120Tyr) c.*32G>T (n.*32G>T) | |
1 | g.119033297C>G | CA341436815 | WARS2 | c.697G>C (p.Asp233His) c.*63G>C (n.*63G>C) n.621G>C c.643G>C (p.Asp215His) c.415G>C (p.Asp139His) c.628G>C (p.Asp210His) c.439G>C (p.Asp147His) c.640G>C (p.Asp214His) c.526G>C (p.Asp176His) c.358G>C (p.Asp120His) c.*32G>C (n.*32G>C) | |
1 | g.119033297C>T | CA341436816 | WARS2 | c.697G>A (p.Asp233Asn) c.*63G>A (n.*63G>A) n.621G>A c.643G>A (p.Asp215Asn) c.415G>A (p.Asp139Asn) c.628G>A (p.Asp210Asn) c.439G>A (p.Asp147Asn) c.640G>A (p.Asp214Asn) c.526G>A (p.Asp176Asn) c.358G>A (p.Asp120Asn) c.*32G>A (n.*32G>A) | |
1 | g.119033298A>C | CA420192892 | WARS2 | c.696T>G (p.Pro232=) c.*62T>G (n.*62T>G) n.620T>G c.642T>G (p.Pro214=) c.414T>G (p.Pro138=) c.627T>G (p.Pro209=) c.438T>G (p.Pro146=) c.639T>G (p.Pro213=) c.525T>G (p.Pro175=) c.357T>G (p.Pro119=) c.*31T>G (n.*31T>G) | |
1 | g.119033298A>G | CA420192893 | WARS2 | c.696T>C (p.Pro232=) c.*62T>C (n.*62T>C) n.620T>C c.642T>C (p.Pro214=) c.414T>C (p.Pro138=) c.627T>C (p.Pro209=) c.438T>C (p.Pro146=) c.639T>C (p.Pro213=) c.525T>C (p.Pro175=) c.357T>C (p.Pro119=) c.*31T>C (n.*31T>C) | |
1 | g.119033298A>T | CA420192894 | WARS2 | c.696T>A (p.Pro232=) c.*62T>A (n.*62T>A) n.620T>A c.642T>A (p.Pro214=) c.414T>A (p.Pro138=) c.627T>A (p.Pro209=) c.438T>A (p.Pro146=) c.639T>A (p.Pro213=) c.525T>A (p.Pro175=) c.357T>A (p.Pro119=) c.*31T>A (n.*31T>A) | |
1 | g.119033299G>A | CA341436819 | WARS2 | c.695C>T (p.Pro232Leu) c.*61C>T (n.*61C>T) n.619C>T c.641C>T (p.Pro214Leu) c.413C>T (p.Pro138Leu) c.626C>T (p.Pro209Leu) c.437C>T (p.Pro146Leu) c.638C>T (p.Pro213Leu) c.524C>T (p.Pro175Leu) c.356C>T (p.Pro119Leu) c.*30C>T (n.*30C>T) | |
1 | g.119033299G>C | CA341436817 | WARS2 | c.695C>G (p.Pro232Arg) c.*61C>G (n.*61C>G) n.619C>G c.641C>G (p.Pro214Arg) c.413C>G (p.Pro138Arg) c.626C>G (p.Pro209Arg) c.437C>G (p.Pro146Arg) c.638C>G (p.Pro213Arg) c.524C>G (p.Pro175Arg) c.356C>G (p.Pro119Arg) c.*30C>G (n.*30C>G) | gnomAD v4 |
1 | g.119033299G>T | CA341436818 | WARS2 | c.695C>A (p.Pro232His) c.*61C>A (n.*61C>A) n.619C>A c.641C>A (p.Pro214His) c.413C>A (p.Pro138His) c.626C>A (p.Pro209His) c.437C>A (p.Pro146His) c.638C>A (p.Pro213His) c.524C>A (p.Pro175His) c.356C>A (p.Pro119His) c.*30C>A (n.*30C>A) | |
1 | g.119033300G>A | CA341436820 | WARS2 | c.694C>T (p.Pro232Ser) c.*60C>T (n.*60C>T) n.618C>T c.640C>T (p.Pro214Ser) c.412C>T (p.Pro138Ser) c.625C>T (p.Pro209Ser) c.436C>T (p.Pro146Ser) c.637C>T (p.Pro213Ser) c.523C>T (p.Pro175Ser) c.355C>T (p.Pro119Ser) c.*29C>T (n.*29C>T) | |
1 | g.119033300G>C | CA341436821 | WARS2 | c.694C>G (p.Pro232Ala) c.*60C>G (n.*60C>G) n.618C>G c.640C>G (p.Pro214Ala) c.412C>G (p.Pro138Ala) c.625C>G (p.Pro209Ala) c.436C>G (p.Pro146Ala) c.637C>G (p.Pro213Ala) c.523C>G (p.Pro175Ala) c.355C>G (p.Pro119Ala) c.*29C>G (n.*29C>G) | gnomAD v4 |
1 | g.119033300G= | CA1192128229 | WARS2 | c.694C= (p.Pro232=) c.*60C= (n.*60C=) n.618C= c.640C= (p.Pro214=) c.412C= (p.Pro138=) c.625C= (p.Pro209=) c.436C= (p.Pro146=) c.637C= (p.Pro213=) c.523C= (p.Pro175=) c.355C= (p.Pro119=) c.*29C= (n.*29C=) | |
1 | g.119033300G>T | CA1035231 | WARS2 | c.694C>A (p.Pro232Thr) c.*60C>A (n.*60C>A) n.618C>A c.640C>A (p.Pro214Thr) c.412C>A (p.Pro138Thr) c.625C>A (p.Pro209Thr) c.436C>A (p.Pro146Thr) c.637C>A (p.Pro213Thr) c.523C>A (p.Pro175Thr) c.355C>A (p.Pro119Thr) c.*29C>A (n.*29C>A) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 COSMIC |
1 | g.119033301G>A | CA420192896 | WARS2 | c.693C>T (p.Asp231=) c.*59C>T (n.*59C>T) n.617C>T c.639C>T (p.Asp213=) c.411C>T (p.Asp137=) c.624C>T (p.Asp208=) c.435C>T (p.Asp145=) c.636C>T (p.Asp212=) c.522C>T (p.Asp174=) c.354C>T (p.Asp118=) c.*28C>T (n.*28C>T) | |
1 | g.119033301G>C | CA341436822 | WARS2 | c.693C>G (p.Asp231Glu) c.*59C>G (n.*59C>G) n.617C>G c.639C>G (p.Asp213Glu) c.411C>G (p.Asp137Glu) c.624C>G (p.Asp208Glu) c.435C>G (p.Asp145Glu) c.636C>G (p.Asp212Glu) c.522C>G (p.Asp174Glu) c.354C>G (p.Asp118Glu) c.*28C>G (n.*28C>G) | |
1 | g.119033301G= | CA1192128230 | WARS2 | c.693C= (p.Asp231=) c.*59C= (n.*59C=) n.617C= c.639C= (p.Asp213=) c.411C= (p.Asp137=) c.624C= (p.Asp208=) c.435C= (p.Asp145=) c.636C= (p.Asp212=) c.522C= (p.Asp174=) c.354C= (p.Asp118=) c.*28C= (n.*28C=) | |
1 | g.119033301G>T | CA341436823 | WARS2 | c.693C>A (p.Asp231Glu) c.*59C>A (n.*59C>A) n.617C>A c.639C>A (p.Asp213Glu) c.411C>A (p.Asp137Glu) c.624C>A (p.Asp208Glu) c.435C>A (p.Asp145Glu) c.636C>A (p.Asp212Glu) c.522C>A (p.Asp174Glu) c.354C>A (p.Asp118Glu) c.*28C>A (n.*28C>A) | dbSNP gnomAD v2 |
1 | g.119033302T>A | CA341436824 | WARS2 | c.692A>T (p.Asp231Val) c.*58A>T (n.*58A>T) n.616A>T c.638A>T (p.Asp213Val) c.410A>T (p.Asp137Val) c.623A>T (p.Asp208Val) c.434A>T (p.Asp145Val) c.635A>T (p.Asp212Val) c.521A>T (p.Asp174Val) c.353A>T (p.Asp118Val) c.*27A>T (n.*27A>T) | |
1 | g.119033302T>C | CA341436826 | WARS2 | c.692A>G (p.Asp231Gly) c.*58A>G (n.*58A>G) n.616A>G c.638A>G (p.Asp213Gly) c.410A>G (p.Asp137Gly) c.623A>G (p.Asp208Gly) c.434A>G (p.Asp145Gly) c.635A>G (p.Asp212Gly) c.521A>G (p.Asp174Gly) c.353A>G (p.Asp118Gly) c.*27A>G (n.*27A>G) | |
1 | g.119033302T>G | CA341436825 | WARS2 | c.692A>C (p.Asp231Ala) c.*58A>C (n.*58A>C) n.616A>C c.638A>C (p.Asp213Ala) c.410A>C (p.Asp137Ala) c.623A>C (p.Asp208Ala) c.434A>C (p.Asp145Ala) c.635A>C (p.Asp212Ala) c.521A>C (p.Asp174Ala) c.353A>C (p.Asp118Ala) c.*27A>C (n.*27A>C) | |
1 | g.119033303C>A | CA341436827 | WARS2 | c.691G>T (p.Asp231Tyr) c.*57G>T (n.*57G>T) n.615G>T c.637G>T (p.Asp213Tyr) c.409G>T (p.Asp137Tyr) c.622G>T (p.Asp208Tyr) c.433G>T (p.Asp145Tyr) c.634G>T (p.Asp212Tyr) c.520G>T (p.Asp174Tyr) c.352G>T (p.Asp118Tyr) c.*26G>T (n.*26G>T) | |
1 | g.119033303C>G | CA341436828 | WARS2 | c.691G>C (p.Asp231His) c.*57G>C (n.*57G>C) n.615G>C c.637G>C (p.Asp213His) c.409G>C (p.Asp137His) c.622G>C (p.Asp208His) c.433G>C (p.Asp145His) c.634G>C (p.Asp212His) c.520G>C (p.Asp174His) c.352G>C (p.Asp118His) c.*26G>C (n.*26G>C) | |
1 | g.119033303C>T | CA341436829 | WARS2 | c.691G>A (p.Asp231Asn) c.*57G>A (n.*57G>A) n.615G>A c.637G>A (p.Asp213Asn) c.409G>A (p.Asp137Asn) c.622G>A (p.Asp208Asn) c.433G>A (p.Asp145Asn) c.634G>A (p.Asp212Asn) c.520G>A (p.Asp174Asn) c.352G>A (p.Asp118Asn) c.*26G>A (n.*26G>A) |