Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.119033103C>A | CA341436420 | WARS2 | c.891G>T (p.Met297Ile) c.*257G>T (n.*257G>T) c.837G>T (p.Met279Ile) c.609G>T (p.Met203Ile) c.822G>T (p.Met274Ile) c.633G>T (p.Met211Ile) c.834G>T (p.Met278Ile) c.720G>T (p.Met240Ile) c.552G>T (p.Met184Ile) c.*226G>T (n.*226G>T) | gnomAD v4 |
1 | g.119033103C>G | CA341436421 | WARS2 | c.891G>C (p.Met297Ile) c.*257G>C (n.*257G>C) c.837G>C (p.Met279Ile) c.609G>C (p.Met203Ile) c.822G>C (p.Met274Ile) c.633G>C (p.Met211Ile) c.834G>C (p.Met278Ile) c.720G>C (p.Met240Ile) c.552G>C (p.Met184Ile) c.*226G>C (n.*226G>C) | |
1 | g.119033103C>T | CA341436422 | WARS2 | c.891G>A (p.Met297Ile) c.*257G>A (n.*257G>A) c.837G>A (p.Met279Ile) c.609G>A (p.Met203Ile) c.822G>A (p.Met274Ile) c.633G>A (p.Met211Ile) c.834G>A (p.Met278Ile) c.720G>A (p.Met240Ile) c.552G>A (p.Met184Ile) c.*226G>A (n.*226G>A) | gnomAD v4 COSMIC |
1 | g.119033104A>C | CA341436423 | WARS2 | c.890T>G (p.Met297Arg) c.*256T>G (n.*256T>G) c.836T>G (p.Met279Arg) c.608T>G (p.Met203Arg) c.821T>G (p.Met274Arg) c.632T>G (p.Met211Arg) c.833T>G (p.Met278Arg) c.719T>G (p.Met240Arg) c.551T>G (p.Met184Arg) c.*225T>G (n.*225T>G) | |
1 | g.119033104A>G | CA341436424 | WARS2 | c.890T>C (p.Met297Thr) c.*256T>C (n.*256T>C) c.836T>C (p.Met279Thr) c.608T>C (p.Met203Thr) c.821T>C (p.Met274Thr) c.632T>C (p.Met211Thr) c.833T>C (p.Met278Thr) c.719T>C (p.Met240Thr) c.551T>C (p.Met184Thr) c.*225T>C (n.*225T>C) | |
1 | g.119033104A>T | CA341436425 | WARS2 | c.890T>A (p.Met297Lys) c.*256T>A (n.*256T>A) c.836T>A (p.Met279Lys) c.608T>A (p.Met203Lys) c.821T>A (p.Met274Lys) c.632T>A (p.Met211Lys) c.833T>A (p.Met278Lys) c.719T>A (p.Met240Lys) c.551T>A (p.Met184Lys) c.*225T>A (n.*225T>A) | |
1 | g.119033105T>A | CA341436426 | WARS2 | c.889A>T (p.Met297Leu) c.*255A>T (n.*255A>T) c.835A>T (p.Met279Leu) c.607A>T (p.Met203Leu) c.820A>T (p.Met274Leu) c.631A>T (p.Met211Leu) c.832A>T (p.Met278Leu) c.718A>T (p.Met240Leu) c.550A>T (p.Met184Leu) c.*224A>T (n.*224A>T) | |
1 | g.119033105T>C | CA1035190 | WARS2 | c.889A>G (p.Met297Val) c.*255A>G (n.*255A>G) c.835A>G (p.Met279Val) c.607A>G (p.Met203Val) c.820A>G (p.Met274Val) c.631A>G (p.Met211Val) c.832A>G (p.Met278Val) c.718A>G (p.Met240Val) c.550A>G (p.Met184Val) c.*224A>G (n.*224A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.119033105T>G | CA341436427 | WARS2 | c.889A>C (p.Met297Leu) c.*255A>C (n.*255A>C) c.835A>C (p.Met279Leu) c.607A>C (p.Met203Leu) c.820A>C (p.Met274Leu) c.631A>C (p.Met211Leu) c.832A>C (p.Met278Leu) c.718A>C (p.Met240Leu) c.550A>C (p.Met184Leu) c.*224A>C (n.*224A>C) | |
1 | g.119033105T= | CA1192128156 | WARS2 | c.889A= (p.Met297=) c.*255A= (n.*255A=) c.835A= (p.Met279=) c.607A= (p.Met203=) c.820A= (p.Met274=) c.631A= (p.Met211=) c.832A= (p.Met278=) c.718A= (p.Met240=) c.550A= (p.Met184=) c.*224A= (n.*224A=) | |
1 | g.119033106G>A | CA420192358 | WARS2 | c.888C>T (p.Gly296=) c.*254C>T (n.*254C>T) c.834C>T (p.Gly278=) c.606C>T (p.Gly202=) c.819C>T (p.Gly273=) c.630C>T (p.Gly210=) c.831C>T (p.Gly277=) c.717C>T (p.Gly239=) c.549C>T (p.Gly183=) c.*223C>T (n.*223C>T) | |
1 | g.119033106G>C | CA420192356 | WARS2 | c.888C>G (p.Gly296=) c.*254C>G (n.*254C>G) c.834C>G (p.Gly278=) c.606C>G (p.Gly202=) c.819C>G (p.Gly273=) c.630C>G (p.Gly210=) c.831C>G (p.Gly277=) c.717C>G (p.Gly239=) c.549C>G (p.Gly183=) c.*223C>G (n.*223C>G) | |
1 | g.119033106G>T | CA420192354 | WARS2 | c.888C>A (p.Gly296=) c.*254C>A (n.*254C>A) c.834C>A (p.Gly278=) c.606C>A (p.Gly202=) c.819C>A (p.Gly273=) c.630C>A (p.Gly210=) c.831C>A (p.Gly277=) c.717C>A (p.Gly239=) c.549C>A (p.Gly183=) c.*223C>A (n.*223C>A) | |
1 | g.119033107C>A | CA341436428 | WARS2 | c.887G>T (p.Gly296Val) c.*253G>T (n.*253G>T) c.833G>T (p.Gly278Val) c.605G>T (p.Gly202Val) c.818G>T (p.Gly273Val) c.629G>T (p.Gly210Val) c.830G>T (p.Gly277Val) c.716G>T (p.Gly239Val) c.548G>T (p.Gly183Val) c.*222G>T (n.*222G>T) | ClinVar gnomAD v4 |
1 | g.119033107C>G | CA341436429 | WARS2 | c.887G>C (p.Gly296Ala) c.*253G>C (n.*253G>C) c.833G>C (p.Gly278Ala) c.605G>C (p.Gly202Ala) c.818G>C (p.Gly273Ala) c.629G>C (p.Gly210Ala) c.830G>C (p.Gly277Ala) c.716G>C (p.Gly239Ala) c.548G>C (p.Gly183Ala) c.*222G>C (n.*222G>C) | |
1 | g.119033107C>T | CA341436430 | WARS2 | c.887G>A (p.Gly296Asp) c.*253G>A (n.*253G>A) c.833G>A (p.Gly278Asp) c.605G>A (p.Gly202Asp) c.818G>A (p.Gly273Asp) c.629G>A (p.Gly210Asp) c.830G>A (p.Gly277Asp) c.716G>A (p.Gly239Asp) c.548G>A (p.Gly183Asp) c.*222G>A (n.*222G>A) | gnomAD v4 |
1 | g.119033108C>A | CA341436432 | WARS2 | c.886G>T (p.Gly296Cys) c.*252G>T (n.*252G>T) c.832G>T (p.Gly278Cys) c.604G>T (p.Gly202Cys) c.817G>T (p.Gly273Cys) c.628G>T (p.Gly210Cys) c.829G>T (p.Gly277Cys) c.715G>T (p.Gly239Cys) c.547G>T (p.Gly183Cys) c.*221G>T (n.*221G>T) | |
1 | g.119033108C= | CA1192128157 | WARS2 | c.886G= (p.Gly296=) c.*252G= (n.*252G=) c.832G= (p.Gly278=) c.604G= (p.Gly202=) c.817G= (p.Gly273=) c.628G= (p.Gly210=) c.829G= (p.Gly277=) c.715G= (p.Gly239=) c.547G= (p.Gly183=) c.*221G= (n.*221G=) | |
1 | g.119033108C>G | CA1035191 | WARS2 | c.886G>C (p.Gly296Arg) c.*252G>C (n.*252G>C) c.832G>C (p.Gly278Arg) c.604G>C (p.Gly202Arg) c.817G>C (p.Gly273Arg) c.628G>C (p.Gly210Arg) c.829G>C (p.Gly277Arg) c.715G>C (p.Gly239Arg) c.547G>C (p.Gly183Arg) c.*221G>C (n.*221G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.119033108C>T | CA341436431 | WARS2 | c.886G>A (p.Gly296Ser) c.*252G>A (n.*252G>A) c.832G>A (p.Gly278Ser) c.604G>A (p.Gly202Ser) c.817G>A (p.Gly273Ser) c.628G>A (p.Gly210Ser) c.829G>A (p.Gly277Ser) c.715G>A (p.Gly239Ser) c.547G>A (p.Gly183Ser) c.*221G>A (n.*221G>A) | |
1 | g.119033109C>A | CA420192362 | WARS2 | c.885G>T (p.Ala295=) c.*251G>T (n.*251G>T) c.831G>T (p.Ala277=) c.603G>T (p.Ala201=) c.816G>T (p.Ala272=) c.627G>T (p.Ala209=) c.828G>T (p.Ala276=) c.714G>T (p.Ala238=) c.546G>T (p.Ala182=) c.*220G>T (n.*220G>T) | |
1 | g.119033109C= | CA1192128158 | WARS2 | c.885G= (p.Ala295=) c.*251G= (n.*251G=) c.831G= (p.Ala277=) c.603G= (p.Ala201=) c.816G= (p.Ala272=) c.627G= (p.Ala209=) c.828G= (p.Ala276=) c.714G= (p.Ala238=) c.546G= (p.Ala182=) c.*220G= (n.*220G=) | |
1 | g.119033109C>G | CA420192363 | WARS2 | c.885G>C (p.Ala295=) c.*251G>C (n.*251G>C) c.831G>C (p.Ala277=) c.603G>C (p.Ala201=) c.816G>C (p.Ala272=) c.627G>C (p.Ala209=) c.828G>C (p.Ala276=) c.714G>C (p.Ala238=) c.546G>C (p.Ala182=) c.*220G>C (n.*220G>C) | |
1 | g.119033109C>T | CA30376556 | WARS2 | c.885G>A (p.Ala295=) c.*251G>A (n.*251G>A) c.831G>A (p.Ala277=) c.603G>A (p.Ala201=) c.816G>A (p.Ala272=) c.627G>A (p.Ala209=) c.828G>A (p.Ala276=) c.714G>A (p.Ala238=) c.546G>A (p.Ala182=) c.*220G>A (n.*220G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
1 | g.119033110G>A | CA1035192 | WARS2 | c.884C>T (p.Ala295Val) c.*250C>T (n.*250C>T) c.830C>T (p.Ala277Val) c.602C>T (p.Ala201Val) c.815C>T (p.Ala272Val) c.626C>T (p.Ala209Val) c.827C>T (p.Ala276Val) c.713C>T (p.Ala238Val) c.545C>T (p.Ala182Val) c.*219C>T (n.*219C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.119033110G>C | CA341436433 | WARS2 | c.884C>G (p.Ala295Gly) c.*250C>G (n.*250C>G) c.830C>G (p.Ala277Gly) c.602C>G (p.Ala201Gly) c.815C>G (p.Ala272Gly) c.626C>G (p.Ala209Gly) c.827C>G (p.Ala276Gly) c.713C>G (p.Ala238Gly) c.545C>G (p.Ala182Gly) c.*219C>G (n.*219C>G) | gnomAD v4 |
1 | g.119033110G= | CA1141744812 | WARS2 | c.884C= (p.Ala295=) c.*250C= (n.*250C=) c.830C= (p.Ala277=) c.602C= (p.Ala201=) c.815C= (p.Ala272=) c.626C= (p.Ala209=) c.827C= (p.Ala276=) c.713C= (p.Ala238=) c.545C= (p.Ala182=) c.*219C= (n.*219C=) | |
1 | g.119033110G>T | CA341436434 | WARS2 | c.884C>A (p.Ala295Glu) c.*250C>A (n.*250C>A) c.830C>A (p.Ala277Glu) c.602C>A (p.Ala201Glu) c.815C>A (p.Ala272Glu) c.626C>A (p.Ala209Glu) c.827C>A (p.Ala276Glu) c.713C>A (p.Ala238Glu) c.545C>A (p.Ala182Glu) c.*219C>A (n.*219C>A) | |
1 | g.119033111C>A | CA341436435 | WARS2 | c.883G>T (p.Ala295Ser) c.*249G>T (n.*249G>T) c.829G>T (p.Ala277Ser) c.601G>T (p.Ala201Ser) c.814G>T (p.Ala272Ser) c.625G>T (p.Ala209Ser) c.826G>T (p.Ala276Ser) c.712G>T (p.Ala238Ser) c.544G>T (p.Ala182Ser) c.*218G>T (n.*218G>T) | |
1 | g.119033111C= | CA1192128159 | WARS2 | c.883G= (p.Ala295=) c.*249G= (n.*249G=) c.829G= (p.Ala277=) c.601G= (p.Ala201=) c.814G= (p.Ala272=) c.625G= (p.Ala209=) c.826G= (p.Ala276=) c.712G= (p.Ala238=) c.544G= (p.Ala182=) c.*218G= (n.*218G=) | |
1 | g.119033111C>G | CA341436436 | WARS2 | c.883G>C (p.Ala295Pro) c.*249G>C (n.*249G>C) c.829G>C (p.Ala277Pro) c.601G>C (p.Ala201Pro) c.814G>C (p.Ala272Pro) c.625G>C (p.Ala209Pro) c.826G>C (p.Ala276Pro) c.712G>C (p.Ala238Pro) c.544G>C (p.Ala182Pro) c.*218G>C (n.*218G>C) | |
1 | g.119033111C>T | CA341436437 | WARS2 | c.883G>A (p.Ala295Thr) c.*249G>A (n.*249G>A) c.829G>A (p.Ala277Thr) c.601G>A (p.Ala201Thr) c.814G>A (p.Ala272Thr) c.625G>A (p.Ala209Thr) c.826G>A (p.Ala276Thr) c.712G>A (p.Ala238Thr) c.544G>A (p.Ala182Thr) c.*218G>A (n.*218G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.119033112G>A | CA420192367 | WARS2 | c.882C>T (p.Ser294=) c.*248C>T (n.*248C>T) c.828C>T (p.Ser276=) c.600C>T (p.Ser200=) c.813C>T (p.Ser271=) c.624C>T (p.Ser208=) c.825C>T (p.Ser275=) c.711C>T (p.Ser237=) c.543C>T (p.Ser181=) c.*217C>T (n.*217C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.119033112G>C | CA341436438 | WARS2 | c.882C>G (p.Ser294Arg) c.*248C>G (n.*248C>G) c.828C>G (p.Ser276Arg) c.600C>G (p.Ser200Arg) c.813C>G (p.Ser271Arg) c.624C>G (p.Ser208Arg) c.825C>G (p.Ser275Arg) c.711C>G (p.Ser237Arg) c.543C>G (p.Ser181Arg) c.*217C>G (n.*217C>G) | gnomAD v4 |
1 | g.119033112G= | CA1192128160 | WARS2 | c.882C= (p.Ser294=) c.*248C= (n.*248C=) c.828C= (p.Ser276=) c.600C= (p.Ser200=) c.813C= (p.Ser271=) c.624C= (p.Ser208=) c.825C= (p.Ser275=) c.711C= (p.Ser237=) c.543C= (p.Ser181=) c.*217C= (n.*217C=) | |
1 | g.119033112G>T | CA341436439 | WARS2 | c.882C>A (p.Ser294Arg) c.*248C>A (n.*248C>A) c.828C>A (p.Ser276Arg) c.600C>A (p.Ser200Arg) c.813C>A (p.Ser271Arg) c.624C>A (p.Ser208Arg) c.825C>A (p.Ser275Arg) c.711C>A (p.Ser237Arg) c.543C>A (p.Ser181Arg) c.*217C>A (n.*217C>A) | ClinVar |
1 | g.119033113C>A | CA341436440 | WARS2 | c.881G>T (p.Ser294Ile) c.*247G>T (n.*247G>T) c.827G>T (p.Ser276Ile) c.599G>T (p.Ser200Ile) c.812G>T (p.Ser271Ile) c.623G>T (p.Ser208Ile) c.824G>T (p.Ser275Ile) c.710G>T (p.Ser237Ile) c.542G>T (p.Ser181Ile) c.*216G>T (n.*216G>T) | |
1 | g.119033113C= | CA1192128161 | WARS2 | c.881G= (p.Ser294=) c.*247G= (n.*247G=) c.827G= (p.Ser276=) c.599G= (p.Ser200=) c.812G= (p.Ser271=) c.623G= (p.Ser208=) c.824G= (p.Ser275=) c.710G= (p.Ser237=) c.542G= (p.Ser181=) c.*216G= (n.*216G=) | |
1 | g.119033113C>G | CA341436441 | WARS2 | c.881G>C (p.Ser294Thr) c.*247G>C (n.*247G>C) c.827G>C (p.Ser276Thr) c.599G>C (p.Ser200Thr) c.812G>C (p.Ser271Thr) c.623G>C (p.Ser208Thr) c.824G>C (p.Ser275Thr) c.710G>C (p.Ser237Thr) c.542G>C (p.Ser181Thr) c.*216G>C (n.*216G>C) | |
1 | g.119033113C>T | CA341436442 | WARS2 | c.881G>A (p.Ser294Asn) c.*247G>A (n.*247G>A) c.827G>A (p.Ser276Asn) c.599G>A (p.Ser200Asn) c.812G>A (p.Ser271Asn) c.623G>A (p.Ser208Asn) c.824G>A (p.Ser275Asn) c.710G>A (p.Ser237Asn) c.542G>A (p.Ser181Asn) c.*216G>A (n.*216G>A) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.119033114T>A | CA341436445 | WARS2 | c.880A>T (p.Ser294Cys) c.*246A>T (n.*246A>T) c.826A>T (p.Ser276Cys) c.598A>T (p.Ser200Cys) c.811A>T (p.Ser271Cys) c.622A>T (p.Ser208Cys) c.823A>T (p.Ser275Cys) c.709A>T (p.Ser237Cys) c.541A>T (p.Ser181Cys) c.*215A>T (n.*215A>T) | |
1 | g.119033114T>C | CA341436444 | WARS2 | c.880A>G (p.Ser294Gly) c.*246A>G (n.*246A>G) c.826A>G (p.Ser276Gly) c.598A>G (p.Ser200Gly) c.811A>G (p.Ser271Gly) c.622A>G (p.Ser208Gly) c.823A>G (p.Ser275Gly) c.709A>G (p.Ser237Gly) c.541A>G (p.Ser181Gly) c.*215A>G (n.*215A>G) | |
1 | g.119033114T>G | CA341436443 | WARS2 | c.880A>C (p.Ser294Arg) c.*246A>C (n.*246A>C) c.826A>C (p.Ser276Arg) c.598A>C (p.Ser200Arg) c.811A>C (p.Ser271Arg) c.622A>C (p.Ser208Arg) c.823A>C (p.Ser275Arg) c.709A>C (p.Ser237Arg) c.541A>C (p.Ser181Arg) c.*215A>C (n.*215A>C) | |
1 | g.119033115G>A | CA420192372 | WARS2 | c.879C>T (p.Arg293=) c.*245C>T (n.*245C>T) c.825C>T (p.Arg275=) c.597C>T (p.Arg199=) c.810C>T (p.Arg270=) c.621C>T (p.Arg207=) c.822C>T (p.Arg274=) c.708C>T (p.Arg236=) c.540C>T (p.Arg180=) c.*214C>T (n.*214C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.119033115G>C | CA420192373 | WARS2 | c.879C>G (p.Arg293=) c.*245C>G (n.*245C>G) c.825C>G (p.Arg275=) c.597C>G (p.Arg199=) c.810C>G (p.Arg270=) c.621C>G (p.Arg207=) c.822C>G (p.Arg274=) c.708C>G (p.Arg236=) c.540C>G (p.Arg180=) c.*214C>G (n.*214C>G) | |
1 | g.119033115G= | CA1192128162 | WARS2 | c.879C= (p.Arg293=) c.*245C= (n.*245C=) c.825C= (p.Arg275=) c.597C= (p.Arg199=) c.810C= (p.Arg270=) c.621C= (p.Arg207=) c.822C= (p.Arg274=) c.708C= (p.Arg236=) c.540C= (p.Arg180=) c.*214C= (n.*214C=) | |
1 | g.119033115G>T | CA420192375 | WARS2 | c.879C>A (p.Arg293=) c.*245C>A (n.*245C>A) c.825C>A (p.Arg275=) c.597C>A (p.Arg199=) c.810C>A (p.Arg270=) c.621C>A (p.Arg207=) c.822C>A (p.Arg274=) c.708C>A (p.Arg236=) c.540C>A (p.Arg180=) c.*214C>A (n.*214C>A) | |
1 | g.119033116del | CA2843412374 | WARS2 | c.878del (p.Arg293ProfsTer5) c.*244del (n.*244del) c.824del (p.Arg275ProfsTer5) c.596del (p.Arg199ProfsTer5) c.809del (p.Arg270ProfsTer5) c.620del (p.Arg207ProfsTer5) c.821del (p.Arg274ProfsTer5) c.707del (p.Arg236ProfsTer5) c.539del (p.Arg180ProfsTer5) c.*213del (n.*213del) | |
1 | g.119033116C>A | CA341436446 | WARS2 | c.878G>T (p.Arg293Leu) c.*244G>T (n.*244G>T) c.824G>T (p.Arg275Leu) c.596G>T (p.Arg199Leu) c.809G>T (p.Arg270Leu) c.620G>T (p.Arg207Leu) c.821G>T (p.Arg274Leu) c.707G>T (p.Arg236Leu) c.539G>T (p.Arg180Leu) c.*213G>T (n.*213G>T) | |
1 | g.119033116C= | CA1192128163 | WARS2 | c.878G= (p.Arg293=) c.*244G= (n.*244G=) c.824G= (p.Arg275=) c.596G= (p.Arg199=) c.809G= (p.Arg270=) c.620G= (p.Arg207=) c.821G= (p.Arg274=) c.707G= (p.Arg236=) c.539G= (p.Arg180=) c.*213G= (n.*213G=) | |
1 | g.119033116C>G | CA341436447 | WARS2 | c.878G>C (p.Arg293Pro) c.*244G>C (n.*244G>C) c.824G>C (p.Arg275Pro) c.596G>C (p.Arg199Pro) c.809G>C (p.Arg270Pro) c.620G>C (p.Arg207Pro) c.821G>C (p.Arg274Pro) c.707G>C (p.Arg236Pro) c.539G>C (p.Arg180Pro) c.*213G>C (n.*213G>C) | dbSNP |
1 | g.119033116C>T | CA1035193 | WARS2 | c.878G>A (p.Arg293His) c.*244G>A (n.*244G>A) c.824G>A (p.Arg275His) c.596G>A (p.Arg199His) c.809G>A (p.Arg270His) c.620G>A (p.Arg207His) c.821G>A (p.Arg274His) c.707G>A (p.Arg236His) c.539G>A (p.Arg180His) c.*213G>A (n.*213G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.119033117G>A | CA30376557 | WARS2 | c.877C>T (p.Arg293Cys) c.*243C>T (n.*243C>T) c.823C>T (p.Arg275Cys) c.595C>T (p.Arg199Cys) c.808C>T (p.Arg270Cys) c.619C>T (p.Arg207Cys) c.820C>T (p.Arg274Cys) c.706C>T (p.Arg236Cys) c.538C>T (p.Arg180Cys) c.*212C>T (n.*212C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.119033117G>C | CA1035194 | WARS2 | c.877C>G (p.Arg293Gly) c.*243C>G (n.*243C>G) c.823C>G (p.Arg275Gly) c.595C>G (p.Arg199Gly) c.808C>G (p.Arg270Gly) c.619C>G (p.Arg207Gly) c.820C>G (p.Arg274Gly) c.706C>G (p.Arg236Gly) c.538C>G (p.Arg180Gly) c.*212C>G (n.*212C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.119033117G= | CA1143966998 | WARS2 | c.877C= (p.Arg293=) c.*243C= (n.*243C=) c.823C= (p.Arg275=) c.595C= (p.Arg199=) c.808C= (p.Arg270=) c.619C= (p.Arg207=) c.820C= (p.Arg274=) c.706C= (p.Arg236=) c.538C= (p.Arg180=) c.*212C= (n.*212C=) | |
1 | g.119033117G>T | CA341436448 | WARS2 | c.877C>A (p.Arg293Ser) c.*243C>A (n.*243C>A) c.823C>A (p.Arg275Ser) c.595C>A (p.Arg199Ser) c.808C>A (p.Arg270Ser) c.619C>A (p.Arg207Ser) c.820C>A (p.Arg274Ser) c.706C>A (p.Arg236Ser) c.538C>A (p.Arg180Ser) c.*212C>A (n.*212C>A) | gnomAD v4 |
1 | g.119033118G>A | CA420192381 | WARS2 | c.876C>T (p.Arg292=) c.*242C>T (n.*242C>T) c.822C>T (p.Arg274=) c.594C>T (p.Arg198=) c.807C>T (p.Arg269=) c.618C>T (p.Arg206=) c.819C>T (p.Arg273=) c.705C>T (p.Arg235=) c.537C>T (p.Arg179=) c.*211C>T (n.*211C>T) | |
1 | g.119033118G>C | CA420192382 | WARS2 | c.876C>G (p.Arg292=) c.*242C>G (n.*242C>G) c.822C>G (p.Arg274=) c.594C>G (p.Arg198=) c.807C>G (p.Arg269=) c.618C>G (p.Arg206=) c.819C>G (p.Arg273=) c.705C>G (p.Arg235=) c.537C>G (p.Arg179=) c.*211C>G (n.*211C>G) | |
1 | g.119033118G>T | CA420192383 | WARS2 | c.876C>A (p.Arg292=) c.*242C>A (n.*242C>A) c.822C>A (p.Arg274=) c.594C>A (p.Arg198=) c.807C>A (p.Arg269=) c.618C>A (p.Arg206=) c.819C>A (p.Arg273=) c.705C>A (p.Arg235=) c.537C>A (p.Arg179=) c.*211C>A (n.*211C>A) | gnomAD v4 |
1 | g.119033119C>A | CA341436449 | WARS2 | c.875G>T (p.Arg292Leu) c.*241G>T (n.*241G>T) c.821G>T (p.Arg274Leu) c.593G>T (p.Arg198Leu) c.806G>T (p.Arg269Leu) c.617G>T (p.Arg206Leu) c.818G>T (p.Arg273Leu) c.704G>T (p.Arg235Leu) c.536G>T (p.Arg179Leu) c.*210G>T (n.*210G>T) | gnomAD v4 |
1 | g.119033119C= | CA1148444082 | WARS2 | c.875G= (p.Arg292=) c.*241G= (n.*241G=) c.821G= (p.Arg274=) c.593G= (p.Arg198=) c.806G= (p.Arg269=) c.617G= (p.Arg206=) c.818G= (p.Arg273=) c.704G= (p.Arg235=) c.536G= (p.Arg179=) c.*210G= (n.*210G=) | |
1 | g.119033119C>G | CA341436450 | WARS2 | c.875G>C (p.Arg292Pro) c.*241G>C (n.*241G>C) c.821G>C (p.Arg274Pro) c.593G>C (p.Arg198Pro) c.806G>C (p.Arg269Pro) c.617G>C (p.Arg206Pro) c.818G>C (p.Arg273Pro) c.704G>C (p.Arg235Pro) c.536G>C (p.Arg179Pro) c.*210G>C (n.*210G>C) | |
1 | g.119033119C>T | CA1035195 | WARS2 | c.875G>A (p.Arg292His) c.*241G>A (n.*241G>A) c.821G>A (p.Arg274His) c.593G>A (p.Arg198His) c.806G>A (p.Arg269His) c.617G>A (p.Arg206His) c.818G>A (p.Arg273His) c.704G>A (p.Arg235His) c.536G>A (p.Arg179His) c.*210G>A (n.*210G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.119033120G>A | CA1035196 | WARS2 | c.874C>T (p.Arg292Cys) c.*240C>T (n.*240C>T) c.820C>T (p.Arg274Cys) c.592C>T (p.Arg198Cys) c.805C>T (p.Arg269Cys) c.616C>T (p.Arg206Cys) c.817C>T (p.Arg273Cys) c.703C>T (p.Arg235Cys) c.535C>T (p.Arg179Cys) c.*209C>T (n.*209C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.119033120G>C | CA341436451 | WARS2 | c.874C>G (p.Arg292Gly) c.*240C>G (n.*240C>G) c.820C>G (p.Arg274Gly) c.592C>G (p.Arg198Gly) c.805C>G (p.Arg269Gly) c.616C>G (p.Arg206Gly) c.817C>G (p.Arg273Gly) c.703C>G (p.Arg235Gly) c.535C>G (p.Arg179Gly) c.*209C>G (n.*209C>G) | |
1 | g.119033120G= | CA1143462401 | WARS2 | c.874C= (p.Arg292=) c.*240C= (n.*240C=) c.820C= (p.Arg274=) c.592C= (p.Arg198=) c.805C= (p.Arg269=) c.616C= (p.Arg206=) c.817C= (p.Arg273=) c.703C= (p.Arg235=) c.535C= (p.Arg179=) c.*209C= (n.*209C=) | |
1 | g.119033120G>T | CA341436452 | WARS2 | c.874C>A (p.Arg292Ser) c.*240C>A (n.*240C>A) c.820C>A (p.Arg274Ser) c.592C>A (p.Arg198Ser) c.805C>A (p.Arg269Ser) c.616C>A (p.Arg206Ser) c.817C>A (p.Arg273Ser) c.703C>A (p.Arg235Ser) c.535C>A (p.Arg179Ser) c.*209C>A (n.*209C>A) | |
1 | g.119033121C>A | CA420192390 | WARS2 | c.873G>T (p.Val291=) c.*239G>T (n.*239G>T) c.819G>T (p.Val273=) c.591G>T (p.Val197=) c.804G>T (p.Val268=) c.615G>T (p.Val205=) c.816G>T (p.Val272=) c.702G>T (p.Val234=) c.534G>T (p.Val178=) c.*208G>T (n.*208G>T) | |
1 | g.119033121C= | CA1192128164 | WARS2 | c.873G= (p.Val291=) c.*239G= (n.*239G=) c.819G= (p.Val273=) c.591G= (p.Val197=) c.804G= (p.Val268=) c.615G= (p.Val205=) c.816G= (p.Val272=) c.702G= (p.Val234=) c.534G= (p.Val178=) c.*208G= (n.*208G=) | |
1 | g.119033121C>G | CA420192389 | WARS2 | c.873G>C (p.Val291=) c.*239G>C (n.*239G>C) c.819G>C (p.Val273=) c.591G>C (p.Val197=) c.804G>C (p.Val268=) c.615G>C (p.Val205=) c.816G>C (p.Val272=) c.702G>C (p.Val234=) c.534G>C (p.Val178=) c.*208G>C (n.*208G>C) | |
1 | g.119033121C>T | CA30376558 | WARS2 | c.873G>A (p.Val291=) c.*239G>A (n.*239G>A) c.819G>A (p.Val273=) c.591G>A (p.Val197=) c.804G>A (p.Val268=) c.615G>A (p.Val205=) c.816G>A (p.Val272=) c.702G>A (p.Val234=) c.534G>A (p.Val178=) c.*208G>A (n.*208G>A) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.119033122A>C | CA341436453 | WARS2 | c.872T>G (p.Val291Gly) c.*238T>G (n.*238T>G) c.818T>G (p.Val273Gly) c.590T>G (p.Val197Gly) c.803T>G (p.Val268Gly) c.614T>G (p.Val205Gly) c.815T>G (p.Val272Gly) c.701T>G (p.Val234Gly) c.533T>G (p.Val178Gly) c.*207T>G (n.*207T>G) | |
1 | g.119033122A>G | CA341436454 | WARS2 | c.872T>C (p.Val291Ala) c.*238T>C (n.*238T>C) c.818T>C (p.Val273Ala) c.590T>C (p.Val197Ala) c.803T>C (p.Val268Ala) c.614T>C (p.Val205Ala) c.815T>C (p.Val272Ala) c.701T>C (p.Val234Ala) c.533T>C (p.Val178Ala) c.*207T>C (n.*207T>C) | |
1 | g.119033122A>T | CA341436455 | WARS2 | c.872T>A (p.Val291Glu) c.*238T>A (n.*238T>A) c.818T>A (p.Val273Glu) c.590T>A (p.Val197Glu) c.803T>A (p.Val268Glu) c.614T>A (p.Val205Glu) c.815T>A (p.Val272Glu) c.701T>A (p.Val234Glu) c.533T>A (p.Val178Glu) c.*207T>A (n.*207T>A) | |
1 | g.119033123C>A | CA341436456 | WARS2 | c.871G>T (p.Val291Leu) c.*237G>T (n.*237G>T) c.817G>T (p.Val273Leu) c.589G>T (p.Val197Leu) c.802G>T (p.Val268Leu) c.613G>T (p.Val205Leu) c.814G>T (p.Val272Leu) c.700G>T (p.Val234Leu) c.532G>T (p.Val178Leu) c.*206G>T (n.*206G>T) | |
1 | g.119033123C>G | CA341436458 | WARS2 | c.871G>C (p.Val291Leu) c.*237G>C (n.*237G>C) c.817G>C (p.Val273Leu) c.589G>C (p.Val197Leu) c.802G>C (p.Val268Leu) c.613G>C (p.Val205Leu) c.814G>C (p.Val272Leu) c.700G>C (p.Val234Leu) c.532G>C (p.Val178Leu) c.*206G>C (n.*206G>C) | |
1 | g.119033123C>T | CA341436457 | WARS2 | c.871G>A (p.Val291Met) c.*237G>A (n.*237G>A) c.817G>A (p.Val273Met) c.589G>A (p.Val197Met) c.802G>A (p.Val268Met) c.613G>A (p.Val205Met) c.814G>A (p.Val272Met) c.700G>A (p.Val234Met) c.532G>A (p.Val178Met) c.*206G>A (n.*206G>A) | |
1 | g.119033124C>A | CA420192398 | WARS2 | c.870G>T (p.Val290=) c.*236G>T (n.*236G>T) c.816G>T (p.Val272=) c.588G>T (p.Val196=) c.801G>T (p.Val267=) c.612G>T (p.Val204=) c.813G>T (p.Val271=) c.699G>T (p.Val233=) c.531G>T (p.Val177=) c.*205G>T (n.*205G>T) | |
1 | g.119033124C= | CA1192128165 | WARS2 | c.870G= (p.Val290=) c.*236G= (n.*236G=) c.816G= (p.Val272=) c.588G= (p.Val196=) c.801G= (p.Val267=) c.612G= (p.Val204=) c.813G= (p.Val271=) c.699G= (p.Val233=) c.531G= (p.Val177=) c.*205G= (n.*205G=) | |
1 | g.119033124C>G | CA420192399 | WARS2 | c.870G>C (p.Val290=) c.*236G>C (n.*236G>C) c.816G>C (p.Val272=) c.588G>C (p.Val196=) c.801G>C (p.Val267=) c.612G>C (p.Val204=) c.813G>C (p.Val271=) c.699G>C (p.Val233=) c.531G>C (p.Val177=) c.*205G>C (n.*205G>C) | |
1 | g.119033124C>T | CA1035197 | WARS2 | c.870G>A (p.Val290=) c.*236G>A (n.*236G>A) c.816G>A (p.Val272=) c.588G>A (p.Val196=) c.801G>A (p.Val267=) c.612G>A (p.Val204=) c.813G>A (p.Val271=) c.699G>A (p.Val233=) c.531G>A (p.Val177=) c.*205G>A (n.*205G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.119033125A>C | CA341436459 | WARS2 | c.869T>G (p.Val290Gly) c.*235T>G (n.*235T>G) c.815T>G (p.Val272Gly) c.587T>G (p.Val196Gly) c.800T>G (p.Val267Gly) c.611T>G (p.Val204Gly) c.812T>G (p.Val271Gly) c.698T>G (p.Val233Gly) c.530T>G (p.Val177Gly) c.*204T>G (n.*204T>G) | |
1 | g.119033125A>G | CA341436460 | WARS2 | c.869T>C (p.Val290Ala) c.*235T>C (n.*235T>C) c.815T>C (p.Val272Ala) c.587T>C (p.Val196Ala) c.800T>C (p.Val267Ala) c.611T>C (p.Val204Ala) c.812T>C (p.Val271Ala) c.698T>C (p.Val233Ala) c.530T>C (p.Val177Ala) c.*204T>C (n.*204T>C) | |
1 | g.119033125A>T | CA341436461 | WARS2 | c.869T>A (p.Val290Glu) c.*235T>A (n.*235T>A) c.815T>A (p.Val272Glu) c.587T>A (p.Val196Glu) c.800T>A (p.Val267Glu) c.611T>A (p.Val204Glu) c.812T>A (p.Val271Glu) c.698T>A (p.Val233Glu) c.530T>A (p.Val177Glu) c.*204T>A (n.*204T>A) | |
1 | g.119033126C>A | CA341436462 | WARS2 | c.868G>T (p.Val290Leu) c.*234G>T (n.*234G>T) c.814G>T (p.Val272Leu) c.586G>T (p.Val196Leu) c.799G>T (p.Val267Leu) c.610G>T (p.Val204Leu) c.811G>T (p.Val271Leu) c.697G>T (p.Val233Leu) c.529G>T (p.Val177Leu) c.*203G>T (n.*203G>T) | |
1 | g.119033126C>G | CA341436463 | WARS2 | c.868G>C (p.Val290Leu) c.*234G>C (n.*234G>C) c.814G>C (p.Val272Leu) c.586G>C (p.Val196Leu) c.799G>C (p.Val267Leu) c.610G>C (p.Val204Leu) c.811G>C (p.Val271Leu) c.697G>C (p.Val233Leu) c.529G>C (p.Val177Leu) c.*203G>C (n.*203G>C) | |
1 | g.119033126C>T | CA341436464 | WARS2 | c.868G>A (p.Val290Met) c.*234G>A (n.*234G>A) c.814G>A (p.Val272Met) c.586G>A (p.Val196Met) c.799G>A (p.Val267Met) c.610G>A (p.Val204Met) c.811G>A (p.Val271Met) c.697G>A (p.Val233Met) c.529G>A (p.Val177Met) c.*203G>A (n.*203G>A) | |
1 | g.119033127T>A | CA341436465 | WARS2 | c.867A>T (p.Glu289Asp) c.*233A>T (n.*233A>T) c.813A>T (p.Glu271Asp) c.585A>T (p.Glu195Asp) c.798A>T (p.Glu266Asp) c.609A>T (p.Glu203Asp) c.810A>T (p.Glu270Asp) c.696A>T (p.Glu232Asp) c.528A>T (p.Glu176Asp) c.*202A>T (n.*202A>T) | |
1 | g.119033127T>C | CA420192411 | WARS2 | c.867A>G (p.Glu289=) c.*233A>G (n.*233A>G) c.813A>G (p.Glu271=) c.585A>G (p.Glu195=) c.798A>G (p.Glu266=) c.609A>G (p.Glu203=) c.810A>G (p.Glu270=) c.696A>G (p.Glu232=) c.528A>G (p.Glu176=) c.*202A>G (n.*202A>G) | |
1 | g.119033127T>G | CA341436466 | WARS2 | c.867A>C (p.Glu289Asp) c.*233A>C (n.*233A>C) c.813A>C (p.Glu271Asp) c.585A>C (p.Glu195Asp) c.798A>C (p.Glu266Asp) c.609A>C (p.Glu203Asp) c.810A>C (p.Glu270Asp) c.696A>C (p.Glu232Asp) c.528A>C (p.Glu176Asp) c.*202A>C (n.*202A>C) | |
1 | g.119033128T>A | CA341436468 | WARS2 | c.866A>T (p.Glu289Val) c.*232A>T (n.*232A>T) c.812A>T (p.Glu271Val) c.584A>T (p.Glu195Val) c.797A>T (p.Glu266Val) c.608A>T (p.Glu203Val) c.809A>T (p.Glu270Val) c.695A>T (p.Glu232Val) c.527A>T (p.Glu176Val) c.*201A>T (n.*201A>T) | |
1 | g.119033128T>C | CA341436469 | WARS2 | c.866A>G (p.Glu289Gly) c.*232A>G (n.*232A>G) c.812A>G (p.Glu271Gly) c.584A>G (p.Glu195Gly) c.797A>G (p.Glu266Gly) c.608A>G (p.Glu203Gly) c.809A>G (p.Glu270Gly) c.695A>G (p.Glu232Gly) c.527A>G (p.Glu176Gly) c.*201A>G (n.*201A>G) | |
1 | g.119033128T>G | CA341436467 | WARS2 | c.866A>C (p.Glu289Ala) c.*232A>C (n.*232A>C) c.812A>C (p.Glu271Ala) c.584A>C (p.Glu195Ala) c.797A>C (p.Glu266Ala) c.608A>C (p.Glu203Ala) c.809A>C (p.Glu270Ala) c.695A>C (p.Glu232Ala) c.527A>C (p.Glu176Ala) c.*201A>C (n.*201A>C) | |
1 | g.119033129C>A | CA341436470 | WARS2 | c.865G>T (p.Glu289Ter) c.*231G>T (n.*231G>T) c.811G>T (p.Glu271Ter) c.583G>T (p.Glu195Ter) c.796G>T (p.Glu266Ter) c.607G>T (p.Glu203Ter) c.808G>T (p.Glu270Ter) c.694G>T (p.Glu232Ter) c.526G>T (p.Glu176Ter) c.*200G>T (n.*200G>T) | dbSNP |
1 | g.119033129C= | CA1192128166 | WARS2 | c.865G= (p.Glu289=) c.*231G= (n.*231G=) c.811G= (p.Glu271=) c.583G= (p.Glu195=) c.796G= (p.Glu266=) c.607G= (p.Glu203=) c.808G= (p.Glu270=) c.694G= (p.Glu232=) c.526G= (p.Glu176=) c.*200G= (n.*200G=) | |
1 | g.119033129C>G | CA341436471 | WARS2 | c.865G>C (p.Glu289Gln) c.*231G>C (n.*231G>C) c.811G>C (p.Glu271Gln) c.583G>C (p.Glu195Gln) c.796G>C (p.Glu266Gln) c.607G>C (p.Glu203Gln) c.808G>C (p.Glu270Gln) c.694G>C (p.Glu232Gln) c.526G>C (p.Glu176Gln) c.*200G>C (n.*200G>C) | |
1 | g.119033129C>T | CA341436472 | WARS2 | c.865G>A (p.Glu289Lys) c.*231G>A (n.*231G>A) c.811G>A (p.Glu271Lys) c.583G>A (p.Glu195Lys) c.796G>A (p.Glu266Lys) c.607G>A (p.Glu203Lys) c.808G>A (p.Glu270Lys) c.694G>A (p.Glu232Lys) c.526G>A (p.Glu176Lys) c.*200G>A (n.*200G>A) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.119033130C>A | CA341436473 | WARS2 | c.864G>T (p.Glu288Asp) c.*230G>T (n.*230G>T) c.810G>T (p.Glu270Asp) c.582G>T (p.Glu194Asp) c.795G>T (p.Glu265Asp) c.606G>T (p.Glu202Asp) c.807G>T (p.Glu269Asp) c.693G>T (p.Glu231Asp) c.525G>T (p.Glu175Asp) c.*199G>T (n.*199G>T) | |
1 | g.119033130C>G | CA341436474 | WARS2 | c.864G>C (p.Glu288Asp) c.*230G>C (n.*230G>C) c.810G>C (p.Glu270Asp) c.582G>C (p.Glu194Asp) c.795G>C (p.Glu265Asp) c.606G>C (p.Glu202Asp) c.807G>C (p.Glu269Asp) c.693G>C (p.Glu231Asp) c.525G>C (p.Glu175Asp) c.*199G>C (n.*199G>C) | |
1 | g.119033130C>T | CA420192420 | WARS2 | c.864G>A (p.Glu288=) c.*230G>A (n.*230G>A) c.810G>A (p.Glu270=) c.582G>A (p.Glu194=) c.795G>A (p.Glu265=) c.606G>A (p.Glu202=) c.807G>A (p.Glu269=) c.693G>A (p.Glu231=) c.525G>A (p.Glu175=) c.*199G>A (n.*199G>A) | gnomAD v4 |
1 | g.119033131T>A | CA341436477 | WARS2 | c.863A>T (p.Glu288Val) c.*229A>T (n.*229A>T) c.809A>T (p.Glu270Val) c.581A>T (p.Glu194Val) c.794A>T (p.Glu265Val) c.605A>T (p.Glu202Val) c.806A>T (p.Glu269Val) c.692A>T (p.Glu231Val) c.524A>T (p.Glu175Val) c.*198A>T (n.*198A>T) | |
1 | g.119033131T>C | CA341436476 | WARS2 | c.863A>G (p.Glu288Gly) c.*229A>G (n.*229A>G) c.809A>G (p.Glu270Gly) c.581A>G (p.Glu194Gly) c.794A>G (p.Glu265Gly) c.605A>G (p.Glu202Gly) c.806A>G (p.Glu269Gly) c.692A>G (p.Glu231Gly) c.524A>G (p.Glu175Gly) c.*198A>G (n.*198A>G) | |
1 | g.119033131T>G | CA341436475 | WARS2 | c.863A>C (p.Glu288Ala) c.*229A>C (n.*229A>C) c.809A>C (p.Glu270Ala) c.581A>C (p.Glu194Ala) c.794A>C (p.Glu265Ala) c.605A>C (p.Glu202Ala) c.806A>C (p.Glu269Ala) c.692A>C (p.Glu231Ala) c.524A>C (p.Glu175Ala) c.*198A>C (n.*198A>C) | dbSNP |
1 | g.119033131T= | CA1192128167 | WARS2 | c.863A= (p.Glu288=) c.*229A= (n.*229A=) c.809A= (p.Glu270=) c.581A= (p.Glu194=) c.794A= (p.Glu265=) c.605A= (p.Glu202=) c.806A= (p.Glu269=) c.692A= (p.Glu231=) c.524A= (p.Glu175=) c.*198A= (n.*198A=) | |
1 | g.119033131dup | CA2838620754 | WARS2 | c.863dup (p.Glu289GlyfsTer24) c.*229dup (n.*229dup) c.809dup (p.Glu271GlyfsTer24) c.581dup (p.Glu195GlyfsTer24) c.794dup (p.Glu266GlyfsTer24) c.605dup (p.Glu203GlyfsTer24) c.806dup (p.Glu270GlyfsTer24) c.692dup (p.Glu232GlyfsTer24) c.524dup (p.Glu176GlyfsTer24) c.*198dup (n.*198dup) | |
1 | g.119033132C>A | CA341436478 | WARS2 | c.862G>T (p.Glu288Ter) c.*228G>T (n.*228G>T) c.808G>T (p.Glu270Ter) c.580G>T (p.Glu194Ter) c.793G>T (p.Glu265Ter) c.604G>T (p.Glu202Ter) c.805G>T (p.Glu269Ter) c.691G>T (p.Glu231Ter) c.523G>T (p.Glu175Ter) c.*197G>T (n.*197G>T) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.119033132C= | CA1192128168 | WARS2 | c.862G= (p.Glu288=) c.*228G= (n.*228G=) c.808G= (p.Glu270=) c.580G= (p.Glu194=) c.793G= (p.Glu265=) c.604G= (p.Glu202=) c.805G= (p.Glu269=) c.691G= (p.Glu231=) c.523G= (p.Glu175=) c.*197G= (n.*197G=) | |
1 | g.119033132C>G | CA341436479 | WARS2 | c.862G>C (p.Glu288Gln) c.*228G>C (n.*228G>C) c.808G>C (p.Glu270Gln) c.580G>C (p.Glu194Gln) c.793G>C (p.Glu265Gln) c.604G>C (p.Glu202Gln) c.805G>C (p.Glu269Gln) c.691G>C (p.Glu231Gln) c.523G>C (p.Glu175Gln) c.*197G>C (n.*197G>C) | |
1 | g.119033132C>T | CA341436480 | WARS2 | c.862G>A (p.Glu288Lys) c.*228G>A (n.*228G>A) c.808G>A (p.Glu270Lys) c.580G>A (p.Glu194Lys) c.793G>A (p.Glu265Lys) c.604G>A (p.Glu202Lys) c.805G>A (p.Glu269Lys) c.691G>A (p.Glu231Lys) c.523G>A (p.Glu175Lys) c.*197G>A (n.*197G>A) | gnomAD v4 |
1 | g.119033133C>A | CA420192426 | WARS2 | c.861G>T (p.Val287=) c.*227G>T (n.*227G>T) c.807G>T (p.Val269=) c.579G>T (p.Val193=) c.792G>T (p.Val264=) c.603G>T (p.Val201=) c.804G>T (p.Val268=) c.690G>T (p.Val230=) c.522G>T (p.Val174=) c.*196G>T (n.*196G>T) | |
1 | g.119033133C>G | CA420192427 | WARS2 | c.861G>C (p.Val287=) c.*227G>C (n.*227G>C) c.807G>C (p.Val269=) c.579G>C (p.Val193=) c.792G>C (p.Val264=) c.603G>C (p.Val201=) c.804G>C (p.Val268=) c.690G>C (p.Val230=) c.522G>C (p.Val174=) c.*196G>C (n.*196G>C) | |
1 | g.119033133C>T | CA420192428 | WARS2 | c.861G>A (p.Val287=) c.*227G>A (n.*227G>A) c.807G>A (p.Val269=) c.579G>A (p.Val193=) c.792G>A (p.Val264=) c.603G>A (p.Val201=) c.804G>A (p.Val268=) c.690G>A (p.Val230=) c.522G>A (p.Val174=) c.*196G>A (n.*196G>A) | |
1 | g.119033133_119033134insGCGGTG | CA2838620750 | WARS2 | c.860_861insCACCGC (p.Val287_Glu288insThrAla) c.*226_*227insCACCGC (n.*226_*227insCACCGC) c.806_807insCACCGC (p.Val269_Glu270insThrAla) c.578_579insCACCGC (p.Val193_Glu194insThrAla) c.791_792insCACCGC (p.Val264_Glu265insThrAla) c.602_603insCACCGC (p.Val201_Glu202insThrAla) c.803_804insCACCGC (p.Val268_Glu269insThrAla) c.689_690insCACCGC (p.Val230_Glu231insThrAla) c.521_522insCACCGC (p.Val174_Glu175insThrAla) c.*195_*196insCACCGC (n.*195_*196insCACCGC) | |
1 | g.119033134A>C | CA341436481 | WARS2 | c.860T>G (p.Val287Gly) c.*226T>G (n.*226T>G) c.806T>G (p.Val269Gly) c.578T>G (p.Val193Gly) c.791T>G (p.Val264Gly) c.602T>G (p.Val201Gly) c.803T>G (p.Val268Gly) c.689T>G (p.Val230Gly) c.521T>G (p.Val174Gly) c.*195T>G (n.*195T>G) | |
1 | g.119033134A>G | CA341436482 | WARS2 | c.860T>C (p.Val287Ala) c.*226T>C (n.*226T>C) c.806T>C (p.Val269Ala) c.578T>C (p.Val193Ala) c.791T>C (p.Val264Ala) c.602T>C (p.Val201Ala) c.803T>C (p.Val268Ala) c.689T>C (p.Val230Ala) c.521T>C (p.Val174Ala) c.*195T>C (n.*195T>C) | |
1 | g.119033134A>T | CA341436483 | WARS2 | c.860T>A (p.Val287Glu) c.*226T>A (n.*226T>A) c.806T>A (p.Val269Glu) c.578T>A (p.Val193Glu) c.791T>A (p.Val264Glu) c.602T>A (p.Val201Glu) c.803T>A (p.Val268Glu) c.689T>A (p.Val230Glu) c.521T>A (p.Val174Glu) c.*195T>A (n.*195T>A) | |
1 | g.119033135C>A | CA341436484 | WARS2 | c.859G>T (p.Val287Leu) c.*225G>T (n.*225G>T) c.805G>T (p.Val269Leu) c.577G>T (p.Val193Leu) c.790G>T (p.Val264Leu) c.601G>T (p.Val201Leu) c.802G>T (p.Val268Leu) c.688G>T (p.Val230Leu) c.520G>T (p.Val174Leu) c.*194G>T (n.*194G>T) | |
1 | g.119033135C= | CA1143280518 | WARS2 | c.859G= (p.Val287=) c.*225G= (n.*225G=) c.805G= (p.Val269=) c.577G= (p.Val193=) c.790G= (p.Val264=) c.601G= (p.Val201=) c.802G= (p.Val268=) c.688G= (p.Val230=) c.520G= (p.Val174=) c.*194G= (n.*194G=) | |
1 | g.119033135C>G | CA1035199 | WARS2 | c.859G>C (p.Val287Leu) c.*225G>C (n.*225G>C) c.805G>C (p.Val269Leu) c.577G>C (p.Val193Leu) c.790G>C (p.Val264Leu) c.601G>C (p.Val201Leu) c.802G>C (p.Val268Leu) c.688G>C (p.Val230Leu) c.520G>C (p.Val174Leu) c.*194G>C (n.*194G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.119033135C>T | CA1035198 | WARS2 | c.859G>A (p.Val287Met) c.*225G>A (n.*225G>A) c.805G>A (p.Val269Met) c.577G>A (p.Val193Met) c.790G>A (p.Val264Met) c.601G>A (p.Val201Met) c.802G>A (p.Val268Met) c.688G>A (p.Val230Met) c.520G>A (p.Val174Met) c.*194G>A (n.*194G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.119033136G>A | CA420192439 | WARS2 | c.858C>T (p.Ser286=) c.*224C>T (n.*224C>T) c.804C>T (p.Ser268=) c.576C>T (p.Ser192=) c.789C>T (p.Ser263=) c.600C>T (p.Ser200=) c.801C>T (p.Ser267=) c.687C>T (p.Ser229=) c.519C>T (p.Ser173=) c.*193C>T (n.*193C>T) | gnomAD v4 |
1 | g.119033136G>C | CA420192440 | WARS2 | c.858C>G (p.Ser286=) c.*224C>G (n.*224C>G) c.804C>G (p.Ser268=) c.576C>G (p.Ser192=) c.789C>G (p.Ser263=) c.600C>G (p.Ser200=) c.801C>G (p.Ser267=) c.687C>G (p.Ser229=) c.519C>G (p.Ser173=) c.*193C>G (n.*193C>G) | ClinVar |
1 | g.119033136G>T | CA420192441 | WARS2 | c.858C>A (p.Ser286=) c.*224C>A (n.*224C>A) c.804C>A (p.Ser268=) c.576C>A (p.Ser192=) c.789C>A (p.Ser263=) c.600C>A (p.Ser200=) c.801C>A (p.Ser267=) c.687C>A (p.Ser229=) c.519C>A (p.Ser173=) c.*193C>A (n.*193C>A) | |
1 | g.119033137_119033138insGGCTCTCCGTGG | CA2838620755 | WARS2 | c.858_859insACGGAGAGCCCC (p.Ser286_Val287insThrGluSerPro) c.*224_*225insACGGAGAGCCCC (n.*224_*225insACGGAGAGCCCC) c.804_805insACGGAGAGCCCC (p.Ser268_Val269insThrGluSerPro) c.576_577insACGGAGAGCCCC (p.Ser192_Val193insThrGluSerPro) c.789_790insACGGAGAGCCCC (p.Ser263_Val264insThrGluSerPro) c.600_601insACGGAGAGCCCC (p.Ser200_Val201insThrGluSerPro) c.801_802insACGGAGAGCCCC (p.Ser267_Val268insThrGluSerPro) c.687_688insACGGAGAGCCCC (p.Ser229_Val230insThrGluSerPro) c.519_520insACGGAGAGCCCC (p.Ser173_Val174insThrGluSerPro) c.*193_*194insACGGAGAGCCCC (n.*193_*194insACGGAGAGCCCC) | |
1 | g.119033137G>A | CA341436485 | WARS2 | c.857C>T (p.Ser286Phe) c.*223C>T (n.*223C>T) c.803C>T (p.Ser268Phe) c.575C>T (p.Ser192Phe) c.788C>T (p.Ser263Phe) c.599C>T (p.Ser200Phe) c.800C>T (p.Ser267Phe) c.686C>T (p.Ser229Phe) c.518C>T (p.Ser173Phe) c.*192C>T (n.*192C>T) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
1 | g.119033137G>C | CA341436486 | WARS2 | c.857C>G (p.Ser286Cys) c.*223C>G (n.*223C>G) c.803C>G (p.Ser268Cys) c.575C>G (p.Ser192Cys) c.788C>G (p.Ser263Cys) c.599C>G (p.Ser200Cys) c.800C>G (p.Ser267Cys) c.686C>G (p.Ser229Cys) c.518C>G (p.Ser173Cys) c.*192C>G (n.*192C>G) | |
1 | g.119033137G= | CA1192128169 | WARS2 | c.857C= (p.Ser286=) c.*223C= (n.*223C=) c.803C= (p.Ser268=) c.575C= (p.Ser192=) c.788C= (p.Ser263=) c.599C= (p.Ser200=) c.800C= (p.Ser267=) c.686C= (p.Ser229=) c.518C= (p.Ser173=) c.*192C= (n.*192C=) | |
1 | g.119033137G>T | CA341436487 | WARS2 | c.857C>A (p.Ser286Tyr) c.*223C>A (n.*223C>A) c.803C>A (p.Ser268Tyr) c.575C>A (p.Ser192Tyr) c.788C>A (p.Ser263Tyr) c.599C>A (p.Ser200Tyr) c.800C>A (p.Ser267Tyr) c.686C>A (p.Ser229Tyr) c.518C>A (p.Ser173Tyr) c.*192C>A (n.*192C>A) | |
1 | g.119033138A= | CA1192128170 | WARS2 | c.856T= (p.Ser286=) c.*222T= (n.*222T=) c.802T= (p.Ser268=) c.574T= (p.Ser192=) c.787T= (p.Ser263=) c.598T= (p.Ser200=) c.799T= (p.Ser267=) c.685T= (p.Ser229=) c.517T= (p.Ser173=) c.*191T= (n.*191T=) | |
1 | g.119033138A>C | CA341436488 | WARS2 | c.856T>G (p.Ser286Ala) c.*222T>G (n.*222T>G) c.802T>G (p.Ser268Ala) c.574T>G (p.Ser192Ala) c.787T>G (p.Ser263Ala) c.598T>G (p.Ser200Ala) c.799T>G (p.Ser267Ala) c.685T>G (p.Ser229Ala) c.517T>G (p.Ser173Ala) c.*191T>G (n.*191T>G) | |
1 | g.119033138A>G | CA1035200 | WARS2 | c.856T>C (p.Ser286Pro) c.*222T>C (n.*222T>C) c.802T>C (p.Ser268Pro) c.574T>C (p.Ser192Pro) c.787T>C (p.Ser263Pro) c.598T>C (p.Ser200Pro) c.799T>C (p.Ser267Pro) c.685T>C (p.Ser229Pro) c.517T>C (p.Ser173Pro) c.*191T>C (n.*191T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.119033138A>T | CA341436489 | WARS2 | c.856T>A (p.Ser286Thr) c.*222T>A (n.*222T>A) c.802T>A (p.Ser268Thr) c.574T>A (p.Ser192Thr) c.787T>A (p.Ser263Thr) c.598T>A (p.Ser200Thr) c.799T>A (p.Ser267Thr) c.685T>A (p.Ser229Thr) c.517T>A (p.Ser173Thr) c.*191T>A (n.*191T>A) | |
1 | g.119033139G>A | CA420192451 | WARS2 | c.855C>T (p.Leu285=) c.*221C>T (n.*221C>T) c.801C>T (p.Leu267=) c.573C>T (p.Leu191=) c.786C>T (p.Leu262=) c.597C>T (p.Leu199=) c.798C>T (p.Leu266=) c.684C>T (p.Leu228=) c.516C>T (p.Leu172=) c.*190C>T (n.*190C>T) | dbSNP COSMIC |
1 | g.119033139G>C | CA420192453 | WARS2 | c.855C>G (p.Leu285=) c.*221C>G (n.*221C>G) c.801C>G (p.Leu267=) c.573C>G (p.Leu191=) c.786C>G (p.Leu262=) c.597C>G (p.Leu199=) c.798C>G (p.Leu266=) c.684C>G (p.Leu228=) c.516C>G (p.Leu172=) c.*190C>G (n.*190C>G) | |
1 | g.119033139G= | CA1192128171 | WARS2 | c.855C= (p.Leu285=) c.*221C= (n.*221C=) c.801C= (p.Leu267=) c.573C= (p.Leu191=) c.786C= (p.Leu262=) c.597C= (p.Leu199=) c.798C= (p.Leu266=) c.684C= (p.Leu228=) c.516C= (p.Leu172=) c.*190C= (n.*190C=) | |
1 | g.119033139G>T | CA420192454 | WARS2 | c.855C>A (p.Leu285=) c.*221C>A (n.*221C>A) c.801C>A (p.Leu267=) c.573C>A (p.Leu191=) c.786C>A (p.Leu262=) c.597C>A (p.Leu199=) c.798C>A (p.Leu266=) c.684C>A (p.Leu228=) c.516C>A (p.Leu172=) c.*190C>A (n.*190C>A) | |
1 | g.119033140A= | CA1192128172 | WARS2 | c.854T= (p.Leu285=) c.*220T= (n.*220T=) c.800T= (p.Leu267=) c.572T= (p.Leu191=) c.785T= (p.Leu262=) c.596T= (p.Leu199=) c.797T= (p.Leu266=) c.683T= (p.Leu228=) c.515T= (p.Leu172=) c.*189T= (n.*189T=) | |
1 | g.119033140A>C | CA341436490 | WARS2 | c.854T>G (p.Leu285Arg) c.*220T>G (n.*220T>G) c.800T>G (p.Leu267Arg) c.572T>G (p.Leu191Arg) c.785T>G (p.Leu262Arg) c.596T>G (p.Leu199Arg) c.797T>G (p.Leu266Arg) c.683T>G (p.Leu228Arg) c.515T>G (p.Leu172Arg) c.*189T>G (n.*189T>G) | dbSNP |
1 | g.119033140A>G | CA341436491 | WARS2 | c.854T>C (p.Leu285Pro) c.*220T>C (n.*220T>C) c.800T>C (p.Leu267Pro) c.572T>C (p.Leu191Pro) c.785T>C (p.Leu262Pro) c.596T>C (p.Leu199Pro) c.797T>C (p.Leu266Pro) c.683T>C (p.Leu228Pro) c.515T>C (p.Leu172Pro) c.*189T>C (n.*189T>C) | gnomAD v4 |
1 | g.119033140A>T | CA341436492 | WARS2 | c.854T>A (p.Leu285His) c.*220T>A (n.*220T>A) c.800T>A (p.Leu267His) c.572T>A (p.Leu191His) c.785T>A (p.Leu262His) c.596T>A (p.Leu199His) c.797T>A (p.Leu266His) c.683T>A (p.Leu228His) c.515T>A (p.Leu172His) c.*189T>A (n.*189T>A) | gnomAD v4 |
1 | g.119033141G>A | CA341436493 | WARS2 | c.853C>T (p.Leu285Phe) c.*219C>T (n.*219C>T) c.799C>T (p.Leu267Phe) c.571C>T (p.Leu191Phe) c.784C>T (p.Leu262Phe) c.595C>T (p.Leu199Phe) c.796C>T (p.Leu266Phe) c.682C>T (p.Leu228Phe) c.514C>T (p.Leu172Phe) c.*188C>T (n.*188C>T) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.119033141G>C | CA1035201 | WARS2 | c.853C>G (p.Leu285Val) c.*219C>G (n.*219C>G) c.799C>G (p.Leu267Val) c.571C>G (p.Leu191Val) c.784C>G (p.Leu262Val) c.595C>G (p.Leu199Val) c.796C>G (p.Leu266Val) c.682C>G (p.Leu228Val) c.514C>G (p.Leu172Val) c.*188C>G (n.*188C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.119033141G= | CA1192128173 | WARS2 | c.853C= (p.Leu285=) c.*219C= (n.*219C=) c.799C= (p.Leu267=) c.571C= (p.Leu191=) c.784C= (p.Leu262=) c.595C= (p.Leu199=) c.796C= (p.Leu266=) c.682C= (p.Leu228=) c.514C= (p.Leu172=) c.*188C= (n.*188C=) | |
1 | g.119033141G>T | CA341436494 | WARS2 | c.853C>A (p.Leu285Ile) c.*219C>A (n.*219C>A) c.799C>A (p.Leu267Ile) c.571C>A (p.Leu191Ile) c.784C>A (p.Leu262Ile) c.595C>A (p.Leu199Ile) c.796C>A (p.Leu266Ile) c.682C>A (p.Leu228Ile) c.514C>A (p.Leu172Ile) c.*188C>A (n.*188C>A) | |
1 | g.119033142C>A | CA420192466 | WARS2 | c.852G>T (p.Gly284=) c.*218G>T (n.*218G>T) c.798G>T (p.Gly266=) c.570G>T (p.Gly190=) c.783G>T (p.Gly261=) c.594G>T (p.Gly198=) c.795G>T (p.Gly265=) c.681G>T (p.Gly227=) c.513G>T (p.Gly171=) c.*187G>T (n.*187G>T) | gnomAD v4 |
1 | g.119033142C= | CA1143535254 | WARS2 | c.852G= (p.Gly284=) c.*218G= (n.*218G=) c.798G= (p.Gly266=) c.570G= (p.Gly190=) c.783G= (p.Gly261=) c.594G= (p.Gly198=) c.795G= (p.Gly265=) c.681G= (p.Gly227=) c.513G= (p.Gly171=) c.*187G= (n.*187G=) | |
1 | g.119033142C>G | CA1035202 | WARS2 | c.852G>C (p.Gly284=) c.*218G>C (n.*218G>C) c.798G>C (p.Gly266=) c.570G>C (p.Gly190=) c.783G>C (p.Gly261=) c.594G>C (p.Gly198=) c.795G>C (p.Gly265=) c.681G>C (p.Gly227=) c.513G>C (p.Gly171=) c.*187G>C (n.*187G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.119033142C>T | CA420192472 | WARS2 | c.852G>A (p.Gly284=) c.*218G>A (n.*218G>A) c.798G>A (p.Gly266=) c.570G>A (p.Gly190=) c.783G>A (p.Gly261=) c.594G>A (p.Gly198=) c.795G>A (p.Gly265=) c.681G>A (p.Gly227=) c.513G>A (p.Gly171=) c.*187G>A (n.*187G>A) | dbSNP |
1 | g.119033143C>A | CA341436496 | WARS2 | c.851G>T (p.Gly284Val) c.*217G>T (n.*217G>T) c.797G>T (p.Gly266Val) c.569G>T (p.Gly190Val) c.782G>T (p.Gly261Val) c.593G>T (p.Gly198Val) c.794G>T (p.Gly265Val) c.680G>T (p.Gly227Val) c.512G>T (p.Gly171Val) c.*186G>T (n.*186G>T) | |
1 | g.119033143C= | CA1192128174 | WARS2 | c.851G= (p.Gly284=) c.*217G= (n.*217G=) c.797G= (p.Gly266=) c.569G= (p.Gly190=) c.782G= (p.Gly261=) c.593G= (p.Gly198=) c.794G= (p.Gly265=) c.680G= (p.Gly227=) c.512G= (p.Gly171=) c.*186G= (n.*186G=) | |
1 | g.119033143C>G | CA341436495 | WARS2 | c.851G>C (p.Gly284Ala) c.*217G>C (n.*217G>C) c.797G>C (p.Gly266Ala) c.569G>C (p.Gly190Ala) c.782G>C (p.Gly261Ala) c.593G>C (p.Gly198Ala) c.794G>C (p.Gly265Ala) c.680G>C (p.Gly227Ala) c.512G>C (p.Gly171Ala) c.*186G>C (n.*186G>C) | |
1 | g.119033143C>T | CA341436497 | WARS2 | c.851G>A (p.Gly284Glu) c.*217G>A (n.*217G>A) c.797G>A (p.Gly266Glu) c.569G>A (p.Gly190Glu) c.782G>A (p.Gly261Glu) c.593G>A (p.Gly198Glu) c.794G>A (p.Gly265Glu) c.680G>A (p.Gly227Glu) c.512G>A (p.Gly171Glu) c.*186G>A (n.*186G>A) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.119033144C>A | CA341436498 | WARS2 | c.850G>T (p.Gly284Trp) c.*216G>T (n.*216G>T) c.796G>T (p.Gly266Trp) c.568G>T (p.Gly190Trp) c.781G>T (p.Gly261Trp) c.592G>T (p.Gly198Trp) c.793G>T (p.Gly265Trp) c.679G>T (p.Gly227Trp) c.511G>T (p.Gly171Trp) c.*185G>T (n.*185G>T) | |
1 | g.119033144C= | CA1144090523 | WARS2 | c.850G= (p.Gly284=) c.*216G= (n.*216G=) c.796G= (p.Gly266=) c.568G= (p.Gly190=) c.781G= (p.Gly261=) c.592G= (p.Gly198=) c.793G= (p.Gly265=) c.679G= (p.Gly227=) c.511G= (p.Gly171=) c.*185G= (n.*185G=) | |
1 | g.119033144C>G | CA341436499 | WARS2 | c.850G>C (p.Gly284Arg) c.*216G>C (n.*216G>C) c.796G>C (p.Gly266Arg) c.568G>C (p.Gly190Arg) c.781G>C (p.Gly261Arg) c.592G>C (p.Gly198Arg) c.793G>C (p.Gly265Arg) c.679G>C (p.Gly227Arg) c.511G>C (p.Gly171Arg) c.*185G>C (n.*185G>C) | |
1 | g.119033144C>T | CA1035203 | WARS2 | c.850G>A (p.Gly284Arg) c.*216G>A (n.*216G>A) c.796G>A (p.Gly266Arg) c.568G>A (p.Gly190Arg) c.781G>A (p.Gly261Arg) c.592G>A (p.Gly198Arg) c.793G>A (p.Gly265Arg) c.679G>A (p.Gly227Arg) c.511G>A (p.Gly171Arg) c.*185G>A (n.*185G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.119033145C>A | CA420192489 | WARS2 | c.849G>T (p.Thr283=) c.*215G>T (n.*215G>T) c.795G>T (p.Thr265=) c.567G>T (p.Thr189=) c.780G>T (p.Thr260=) c.591G>T (p.Thr197=) c.792G>T (p.Thr264=) c.678G>T (p.Thr226=) c.510G>T (p.Thr170=) c.*184G>T (n.*184G>T) | |
1 | g.119033145C= | CA1192128175 | WARS2 | c.849G= (p.Thr283=) c.*215G= (n.*215G=) c.795G= (p.Thr265=) c.567G= (p.Thr189=) c.780G= (p.Thr260=) c.591G= (p.Thr197=) c.792G= (p.Thr264=) c.678G= (p.Thr226=) c.510G= (p.Thr170=) c.*184G= (n.*184G=) | |
1 | g.119033145C>G | CA420192486 | WARS2 | c.849G>C (p.Thr283=) c.*215G>C (n.*215G>C) c.795G>C (p.Thr265=) c.567G>C (p.Thr189=) c.780G>C (p.Thr260=) c.591G>C (p.Thr197=) c.792G>C (p.Thr264=) c.678G>C (p.Thr226=) c.510G>C (p.Thr170=) c.*184G>C (n.*184G>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.119033145C>T | CA1035204 | WARS2 | c.849G>A (p.Thr283=) c.*215G>A (n.*215G>A) c.795G>A (p.Thr265=) c.567G>A (p.Thr189=) c.780G>A (p.Thr260=) c.591G>A (p.Thr197=) c.792G>A (p.Thr264=) c.678G>A (p.Thr226=) c.510G>A (p.Thr170=) c.*184G>A (n.*184G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.119033146G>A | CA1035205 | WARS2 | c.848C>T (p.Thr283Met) c.*214C>T (n.*214C>T) c.794C>T (p.Thr265Met) c.566C>T (p.Thr189Met) c.779C>T (p.Thr260Met) c.590C>T (p.Thr197Met) c.791C>T (p.Thr264Met) c.677C>T (p.Thr226Met) c.509C>T (p.Thr170Met) c.*183C>T (n.*183C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.119033146G>C | CA341436500 | WARS2 | c.848C>G (p.Thr283Arg) c.*214C>G (n.*214C>G) c.794C>G (p.Thr265Arg) c.566C>G (p.Thr189Arg) c.779C>G (p.Thr260Arg) c.590C>G (p.Thr197Arg) c.791C>G (p.Thr264Arg) c.677C>G (p.Thr226Arg) c.509C>G (p.Thr170Arg) c.*183C>G (n.*183C>G) | |
1 | g.119033146G= | CA1143714037 | WARS2 | c.848C= (p.Thr283=) c.*214C= (n.*214C=) c.794C= (p.Thr265=) c.566C= (p.Thr189=) c.779C= (p.Thr260=) c.590C= (p.Thr197=) c.791C= (p.Thr264=) c.677C= (p.Thr226=) c.509C= (p.Thr170=) c.*183C= (n.*183C=) | |
1 | g.119033146G>T | CA341436501 | WARS2 | c.848C>A (p.Thr283Lys) c.*214C>A (n.*214C>A) c.794C>A (p.Thr265Lys) c.566C>A (p.Thr189Lys) c.779C>A (p.Thr260Lys) c.590C>A (p.Thr197Lys) c.791C>A (p.Thr264Lys) c.677C>A (p.Thr226Lys) c.509C>A (p.Thr170Lys) c.*183C>A (n.*183C>A) | |
1 | g.119033147T>A | CA341436502 | WARS2 | c.847A>T (p.Thr283Ser) c.*213A>T (n.*213A>T) c.793A>T (p.Thr265Ser) c.565A>T (p.Thr189Ser) c.778A>T (p.Thr260Ser) c.589A>T (p.Thr197Ser) c.790A>T (p.Thr264Ser) c.676A>T (p.Thr226Ser) c.508A>T (p.Thr170Ser) c.*182A>T (n.*182A>T) | |
1 | g.119033147T>C | CA341436503 | WARS2 | c.847A>G (p.Thr283Ala) c.*213A>G (n.*213A>G) c.793A>G (p.Thr265Ala) c.565A>G (p.Thr189Ala) c.778A>G (p.Thr260Ala) c.589A>G (p.Thr197Ala) c.790A>G (p.Thr264Ala) c.676A>G (p.Thr226Ala) c.508A>G (p.Thr170Ala) c.*182A>G (n.*182A>G) | |
1 | g.119033147T>G | CA341436504 | WARS2 | c.847A>C (p.Thr283Pro) c.*213A>C (n.*213A>C) c.793A>C (p.Thr265Pro) c.565A>C (p.Thr189Pro) c.778A>C (p.Thr260Pro) c.589A>C (p.Thr197Pro) c.790A>C (p.Thr264Pro) c.676A>C (p.Thr226Pro) c.508A>C (p.Thr170Pro) c.*182A>C (n.*182A>C) | |
1 | g.119033148C>A | CA420192501 | WARS2 | c.846G>T (p.Val282=) c.*212G>T (n.*212G>T) c.792G>T (p.Val264=) c.564G>T (p.Val188=) c.777G>T (p.Val259=) c.588G>T (p.Val196=) c.789G>T (p.Val263=) c.675G>T (p.Val225=) c.507G>T (p.Val169=) c.*181G>T (n.*181G>T) | |
1 | g.119033148C>G | CA420192503 | WARS2 | c.846G>C (p.Val282=) c.*212G>C (n.*212G>C) c.792G>C (p.Val264=) c.564G>C (p.Val188=) c.777G>C (p.Val259=) c.588G>C (p.Val196=) c.789G>C (p.Val263=) c.675G>C (p.Val225=) c.507G>C (p.Val169=) c.*181G>C (n.*181G>C) | |
1 | g.119033148C>T | CA420192504 | WARS2 | c.846G>A (p.Val282=) c.*212G>A (n.*212G>A) c.792G>A (p.Val264=) c.564G>A (p.Val188=) c.777G>A (p.Val259=) c.588G>A (p.Val196=) c.789G>A (p.Val263=) c.675G>A (p.Val225=) c.507G>A (p.Val169=) c.*181G>A (n.*181G>A) | |
1 | g.119033149A>C | CA341436505 | WARS2 | c.845T>G (p.Val282Gly) c.*211T>G (n.*211T>G) c.791T>G (p.Val264Gly) c.563T>G (p.Val188Gly) c.776T>G (p.Val259Gly) c.587T>G (p.Val196Gly) c.788T>G (p.Val263Gly) c.674T>G (p.Val225Gly) c.506T>G (p.Val169Gly) c.*180T>G (n.*180T>G) | |
1 | g.119033149A>G | CA341436506 | WARS2 | c.845T>C (p.Val282Ala) c.*211T>C (n.*211T>C) c.791T>C (p.Val264Ala) c.563T>C (p.Val188Ala) c.776T>C (p.Val259Ala) c.587T>C (p.Val196Ala) c.788T>C (p.Val263Ala) c.674T>C (p.Val225Ala) c.506T>C (p.Val169Ala) c.*180T>C (n.*180T>C) | |
1 | g.119033149A>T | CA341436507 | WARS2 | c.845T>A (p.Val282Glu) c.*211T>A (n.*211T>A) c.791T>A (p.Val264Glu) c.563T>A (p.Val188Glu) c.776T>A (p.Val259Glu) c.587T>A (p.Val196Glu) c.788T>A (p.Val263Glu) c.674T>A (p.Val225Glu) c.506T>A (p.Val169Glu) c.*180T>A (n.*180T>A) | |
1 | g.119033150C>A | CA341436508 | WARS2 | c.844G>T (p.Val282Leu) c.*210G>T (n.*210G>T) c.790G>T (p.Val264Leu) c.562G>T (p.Val188Leu) c.775G>T (p.Val259Leu) c.586G>T (p.Val196Leu) c.787G>T (p.Val263Leu) c.673G>T (p.Val225Leu) c.505G>T (p.Val169Leu) c.*179G>T (n.*179G>T) | |
1 | g.119033150C>G | CA341436509 | WARS2 | c.844G>C (p.Val282Leu) c.*210G>C (n.*210G>C) c.790G>C (p.Val264Leu) c.562G>C (p.Val188Leu) c.775G>C (p.Val259Leu) c.586G>C (p.Val196Leu) c.787G>C (p.Val263Leu) c.673G>C (p.Val225Leu) c.505G>C (p.Val169Leu) c.*179G>C (n.*179G>C) | |
1 | g.119033150C>T | CA341436510 | WARS2 | c.844G>A (p.Val282Met) c.*210G>A (n.*210G>A) c.790G>A (p.Val264Met) c.562G>A (p.Val188Met) c.775G>A (p.Val259Met) c.586G>A (p.Val196Met) c.787G>A (p.Val263Met) c.673G>A (p.Val225Met) c.505G>A (p.Val169Met) c.*179G>A (n.*179G>A) | ClinVar gnomAD v4 |
1 | g.119033151C>A | CA420192522 | WARS2 | c.843G>T (p.Ala281=) c.*209G>T (n.*209G>T) c.789G>T (p.Ala263=) c.561G>T (p.Ala187=) c.774G>T (p.Ala258=) c.585G>T (p.Ala195=) c.786G>T (p.Ala262=) c.672G>T (p.Ala224=) c.504G>T (p.Ala168=) c.*178G>T (n.*178G>T) | COSMIC |
1 | g.119033151C= | CA1192128176 | WARS2 | c.843G= (p.Ala281=) c.*209G= (n.*209G=) c.789G= (p.Ala263=) c.561G= (p.Ala187=) c.774G= (p.Ala258=) c.585G= (p.Ala195=) c.786G= (p.Ala262=) c.672G= (p.Ala224=) c.504G= (p.Ala168=) c.*178G= (n.*178G=) | |
1 | g.119033151C>G | CA420192523 | WARS2 | c.843G>C (p.Ala281=) c.*209G>C (n.*209G>C) c.789G>C (p.Ala263=) c.561G>C (p.Ala187=) c.774G>C (p.Ala258=) c.585G>C (p.Ala195=) c.786G>C (p.Ala262=) c.672G>C (p.Ala224=) c.504G>C (p.Ala168=) c.*178G>C (n.*178G>C) | dbSNP |
1 | g.119033151C>T | CA1035206 | WARS2 | c.843G>A (p.Ala281=) c.*209G>A (n.*209G>A) c.789G>A (p.Ala263=) c.561G>A (p.Ala187=) c.774G>A (p.Ala258=) c.585G>A (p.Ala195=) c.786G>A (p.Ala262=) c.672G>A (p.Ala224=) c.504G>A (p.Ala168=) c.*178G>A (n.*178G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.119033152G>A | CA341436511 | WARS2 | c.842C>T (p.Ala281Val) c.*208C>T (n.*208C>T) c.788C>T (p.Ala263Val) c.560C>T (p.Ala187Val) c.773C>T (p.Ala258Val) c.584C>T (p.Ala195Val) c.785C>T (p.Ala262Val) c.671C>T (p.Ala224Val) c.503C>T (p.Ala168Val) c.*177C>T (n.*177C>T) | gnomAD v4 COSMIC |
1 | g.119033152G>C | CA341436513 | WARS2 | c.842C>G (p.Ala281Gly) c.*208C>G (n.*208C>G) c.788C>G (p.Ala263Gly) c.560C>G (p.Ala187Gly) c.773C>G (p.Ala258Gly) c.584C>G (p.Ala195Gly) c.785C>G (p.Ala262Gly) c.671C>G (p.Ala224Gly) c.503C>G (p.Ala168Gly) c.*177C>G (n.*177C>G) | |
1 | g.119033152G>T | CA341436512 | WARS2 | c.842C>A (p.Ala281Glu) c.*208C>A (n.*208C>A) c.788C>A (p.Ala263Glu) c.560C>A (p.Ala187Glu) c.773C>A (p.Ala258Glu) c.584C>A (p.Ala195Glu) c.785C>A (p.Ala262Glu) c.671C>A (p.Ala224Glu) c.503C>A (p.Ala168Glu) c.*177C>A (n.*177C>A) | |
1 | g.119033153C>A | CA30376559 | WARS2 | c.841G>T (p.Ala281Ser) c.*207G>T (n.*207G>T) c.787G>T (p.Ala263Ser) c.559G>T (p.Ala187Ser) c.772G>T (p.Ala258Ser) c.583G>T (p.Ala195Ser) c.784G>T (p.Ala262Ser) c.670G>T (p.Ala224Ser) c.502G>T (p.Ala168Ser) c.*176G>T (n.*176G>T) | dbSNP |
1 | g.119033153C= | CA1192128177 | WARS2 | c.841G= (p.Ala281=) c.*207G= (n.*207G=) c.787G= (p.Ala263=) c.559G= (p.Ala187=) c.772G= (p.Ala258=) c.583G= (p.Ala195=) c.784G= (p.Ala262=) c.670G= (p.Ala224=) c.502G= (p.Ala168=) c.*176G= (n.*176G=) | |
1 | g.119033153C>G | CA341436514 | WARS2 | c.841G>C (p.Ala281Pro) c.*207G>C (n.*207G>C) c.787G>C (p.Ala263Pro) c.559G>C (p.Ala187Pro) c.772G>C (p.Ala258Pro) c.583G>C (p.Ala195Pro) c.784G>C (p.Ala262Pro) c.670G>C (p.Ala224Pro) c.502G>C (p.Ala168Pro) c.*176G>C (n.*176G>C) | |
1 | g.119033153C>T | CA341436515 | WARS2 | c.841G>A (p.Ala281Thr) c.*207G>A (n.*207G>A) c.787G>A (p.Ala263Thr) c.559G>A (p.Ala187Thr) c.772G>A (p.Ala258Thr) c.583G>A (p.Ala195Thr) c.784G>A (p.Ala262Thr) c.670G>A (p.Ala224Thr) c.502G>A (p.Ala168Thr) c.*176G>A (n.*176G>A) | ClinVar dbSNP |
1 | g.119033154G>A | CA420192530 | WARS2 | c.840C>T (p.Ala280=) c.*206C>T (n.*206C>T) c.786C>T (p.Ala262=) c.558C>T (p.Ala186=) c.771C>T (p.Ala257=) c.582C>T (p.Ala194=) c.783C>T (p.Ala261=) c.669C>T (p.Ala223=) c.501C>T (p.Ala167=) c.*175C>T (n.*175C>T) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
1 | g.119033154G>C | CA420192531 | WARS2 | c.840C>G (p.Ala280=) c.*206C>G (n.*206C>G) c.786C>G (p.Ala262=) c.558C>G (p.Ala186=) c.771C>G (p.Ala257=) c.582C>G (p.Ala194=) c.783C>G (p.Ala261=) c.669C>G (p.Ala223=) c.501C>G (p.Ala167=) c.*175C>G (n.*175C>G) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.119033154G= | CA1192128178 | WARS2 | c.840C= (p.Ala280=) c.*206C= (n.*206C=) c.786C= (p.Ala262=) c.558C= (p.Ala186=) c.771C= (p.Ala257=) c.582C= (p.Ala194=) c.783C= (p.Ala261=) c.669C= (p.Ala223=) c.501C= (p.Ala167=) c.*175C= (n.*175C=) | |
1 | g.119033154G>T | CA420192532 | WARS2 | c.840C>A (p.Ala280=) c.*206C>A (n.*206C>A) c.786C>A (p.Ala262=) c.558C>A (p.Ala186=) c.771C>A (p.Ala257=) c.582C>A (p.Ala194=) c.783C>A (p.Ala261=) c.669C>A (p.Ala223=) c.501C>A (p.Ala167=) c.*175C>A (n.*175C>A) | |
1 | g.119033155G>A | CA341436516 | WARS2 | c.839C>T (p.Ala280Val) c.*205C>T (n.*205C>T) c.785C>T (p.Ala262Val) c.557C>T (p.Ala186Val) c.770C>T (p.Ala257Val) c.581C>T (p.Ala194Val) c.782C>T (p.Ala261Val) c.668C>T (p.Ala223Val) c.500C>T (p.Ala167Val) c.*174C>T (n.*174C>T) | |
1 | g.119033155G>C | CA341436517 | WARS2 | c.839C>G (p.Ala280Gly) c.*205C>G (n.*205C>G) c.785C>G (p.Ala262Gly) c.557C>G (p.Ala186Gly) c.770C>G (p.Ala257Gly) c.581C>G (p.Ala194Gly) c.782C>G (p.Ala261Gly) c.668C>G (p.Ala223Gly) c.500C>G (p.Ala167Gly) c.*174C>G (n.*174C>G) | |
1 | g.119033155G>T | CA341436518 | WARS2 | c.839C>A (p.Ala280Asp) c.*205C>A (n.*205C>A) c.785C>A (p.Ala262Asp) c.557C>A (p.Ala186Asp) c.770C>A (p.Ala257Asp) c.581C>A (p.Ala194Asp) c.782C>A (p.Ala261Asp) c.668C>A (p.Ala223Asp) c.500C>A (p.Ala167Asp) c.*174C>A (n.*174C>A) | |
1 | g.119033156C>A | CA341436519 | WARS2 | c.838G>T (p.Ala280Ser) c.*204G>T (n.*204G>T) c.784G>T (p.Ala262Ser) c.556G>T (p.Ala186Ser) c.769G>T (p.Ala257Ser) c.580G>T (p.Ala194Ser) c.781G>T (p.Ala261Ser) c.667G>T (p.Ala223Ser) c.499G>T (p.Ala167Ser) c.*173G>T (n.*173G>T) | |
1 | g.119033156C>G | CA341436520 | WARS2 | c.838G>C (p.Ala280Pro) c.*204G>C (n.*204G>C) c.784G>C (p.Ala262Pro) c.556G>C (p.Ala186Pro) c.769G>C (p.Ala257Pro) c.580G>C (p.Ala194Pro) c.781G>C (p.Ala261Pro) c.667G>C (p.Ala223Pro) c.499G>C (p.Ala167Pro) c.*173G>C (n.*173G>C) | |
1 | g.119033156C>T | CA341436521 | WARS2 | c.838G>A (p.Ala280Thr) c.*204G>A (n.*204G>A) c.784G>A (p.Ala262Thr) c.556G>A (p.Ala186Thr) c.769G>A (p.Ala257Thr) c.580G>A (p.Ala194Thr) c.781G>A (p.Ala261Thr) c.667G>A (p.Ala223Thr) c.499G>A (p.Ala167Thr) c.*173G>A (n.*173G>A) | COSMIC |
1 | g.119033157A= | CA1192128179 | WARS2 | c.837T= (p.His279=) c.*203T= (n.*203T=) c.783T= (p.His261=) c.555T= (p.His185=) c.768T= (p.His256=) c.579T= (p.His193=) c.780T= (p.His260=) c.666T= (p.His222=) c.498T= (p.His166=) c.*172T= (n.*172T=) | |
1 | g.119033157A>C | CA341436523 | WARS2 | c.837T>G (p.His279Gln) c.*203T>G (n.*203T>G) c.783T>G (p.His261Gln) c.555T>G (p.His185Gln) c.768T>G (p.His256Gln) c.579T>G (p.His193Gln) c.780T>G (p.His260Gln) c.666T>G (p.His222Gln) c.498T>G (p.His166Gln) c.*172T>G (n.*172T>G) | |
1 | g.119033157A>G | CA1035207 | WARS2 | c.837T>C (p.His279=) c.*203T>C (n.*203T>C) c.783T>C (p.His261=) c.555T>C (p.His185=) c.768T>C (p.His256=) c.579T>C (p.His193=) c.780T>C (p.His260=) c.666T>C (p.His222=) c.498T>C (p.His166=) c.*172T>C (n.*172T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.119033157A>T | CA341436522 | WARS2 | c.837T>A (p.His279Gln) c.*203T>A (n.*203T>A) c.783T>A (p.His261Gln) c.555T>A (p.His185Gln) c.768T>A (p.His256Gln) c.579T>A (p.His193Gln) c.780T>A (p.His260Gln) c.666T>A (p.His222Gln) c.498T>A (p.His166Gln) c.*172T>A (n.*172T>A) | |
1 | g.119033158T>A | CA341436524 | WARS2 | c.836A>T (p.His279Leu) c.*202A>T (n.*202A>T) c.782A>T (p.His261Leu) c.554A>T (p.His185Leu) c.767A>T (p.His256Leu) c.578A>T (p.His193Leu) c.779A>T (p.His260Leu) c.665A>T (p.His222Leu) c.497A>T (p.His166Leu) c.*171A>T (n.*171A>T) | |
1 | g.119033158T>C | CA341436525 | WARS2 | c.836A>G (p.His279Arg) c.*202A>G (n.*202A>G) c.782A>G (p.His261Arg) c.554A>G (p.His185Arg) c.767A>G (p.His256Arg) c.578A>G (p.His193Arg) c.779A>G (p.His260Arg) c.665A>G (p.His222Arg) c.497A>G (p.His166Arg) c.*171A>G (n.*171A>G) | |
1 | g.119033158T>G | CA341436526 | WARS2 | c.836A>C (p.His279Pro) c.*202A>C (n.*202A>C) c.782A>C (p.His261Pro) c.554A>C (p.His185Pro) c.767A>C (p.His256Pro) c.578A>C (p.His193Pro) c.779A>C (p.His260Pro) c.665A>C (p.His222Pro) c.497A>C (p.His166Pro) c.*171A>C (n.*171A>C) | |
1 | g.119033158_119033159delinsTG | CA1192128180 | WARS2 | c.835_836delinsCA (p.His279=) c.*201_*202delinsCA (n.*201_*202delinsCA) c.781_782delinsCA (p.His261=) c.553_554delinsCA (p.His185=) c.766_767delinsCA (p.His256=) c.577_578delinsCA (p.His193=) c.778_779delinsCA (p.His260=) c.664_665delinsCA (p.His222=) c.496_497delinsCA (p.His166=) c.*170_*171delinsCA (n.*170_*171delinsCA) | |
1 | g.119033159del | CA30376560 | WARS2 | c.835del (p.His279MetfsTer4) c.*201del (n.*201del) c.781del (p.His261MetfsTer4) c.553del (p.His185MetfsTer4) c.766del (p.His256MetfsTer4) c.577del (p.His193MetfsTer4) c.778del (p.His260MetfsTer4) c.664del (p.His222MetfsTer4) c.496del (p.His166MetfsTer4) c.*170del (n.*170del) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.119033159G>A | CA341436527 | WARS2 | c.835C>T (p.His279Tyr) c.*201C>T (n.*201C>T) c.781C>T (p.His261Tyr) c.553C>T (p.His185Tyr) c.766C>T (p.His256Tyr) c.577C>T (p.His193Tyr) c.778C>T (p.His260Tyr) c.664C>T (p.His222Tyr) c.496C>T (p.His166Tyr) c.*170C>T (n.*170C>T) | |
1 | g.119033159G>C | CA341436528 | WARS2 | c.835C>G (p.His279Asp) c.*201C>G (n.*201C>G) c.781C>G (p.His261Asp) c.553C>G (p.His185Asp) c.766C>G (p.His256Asp) c.577C>G (p.His193Asp) c.778C>G (p.His260Asp) c.664C>G (p.His222Asp) c.496C>G (p.His166Asp) c.*170C>G (n.*170C>G) | |
1 | g.119033159G= | CA1192128181 | WARS2 | c.835C= (p.His279=) c.*201C= (n.*201C=) c.781C= (p.His261=) c.553C= (p.His185=) c.766C= (p.His256=) c.577C= (p.His193=) c.778C= (p.His260=) c.664C= (p.His222=) c.496C= (p.His166=) c.*170C= (n.*170C=) | |
1 | g.119033159G>T | CA341436529 | WARS2 | c.835C>A (p.His279Asn) c.*201C>A (n.*201C>A) c.781C>A (p.His261Asn) c.553C>A (p.His185Asn) c.766C>A (p.His256Asn) c.577C>A (p.His193Asn) c.778C>A (p.His260Asn) c.664C>A (p.His222Asn) c.496C>A (p.His166Asn) c.*170C>A (n.*170C>A) | |
1 | g.119033159_119033160insGC | CA30376561 | WARS2 | c.834_835insGC (p.His279AlafsTer5) c.*200_*201insGC (n.*200_*201insGC) c.780_781insGC (p.His261AlafsTer5) c.552_553insGC (p.His185AlafsTer5) c.765_766insGC (p.His256AlafsTer5) c.576_577insGC (p.His193AlafsTer5) c.777_778insGC (p.His260AlafsTer5) c.663_664insGC (p.His222AlafsTer5) c.495_496insGC (p.His166AlafsTer5) c.*169_*170insGC (n.*169_*170insGC) | dbSNP |
1 | g.119033160C>A | CA420192555 | WARS2 | c.834G>T (p.Val278=) c.*200G>T (n.*200G>T) c.780G>T (p.Val260=) c.552G>T (p.Val184=) c.765G>T (p.Val255=) c.576G>T (p.Val192=) c.777G>T (p.Val259=) c.663G>T (p.Val221=) c.495G>T (p.Val165=) c.*169G>T (n.*169G>T) | |
1 | g.119033160C>G | CA420192556 | WARS2 | c.834G>C (p.Val278=) c.*200G>C (n.*200G>C) c.780G>C (p.Val260=) c.552G>C (p.Val184=) c.765G>C (p.Val255=) c.576G>C (p.Val192=) c.777G>C (p.Val259=) c.663G>C (p.Val221=) c.495G>C (p.Val165=) c.*169G>C (n.*169G>C) | |
1 | g.119033160C>T | CA420192554 | WARS2 | c.834G>A (p.Val278=) c.*200G>A (n.*200G>A) c.780G>A (p.Val260=) c.552G>A (p.Val184=) c.765G>A (p.Val255=) c.576G>A (p.Val192=) c.777G>A (p.Val259=) c.663G>A (p.Val221=) c.495G>A (p.Val165=) c.*169G>A (n.*169G>A) | gnomAD v4 |
1 | g.119033161A= | CA1192128182 | WARS2 | c.833T= (p.Val278=) c.*199T= (n.*199T=) c.779T= (p.Val260=) c.551T= (p.Val184=) c.764T= (p.Val255=) c.575T= (p.Val192=) c.776T= (p.Val259=) c.662T= (p.Val221=) c.494T= (p.Val165=) c.*168T= (n.*168T=) | |
1 | g.119033161A>C | CA1035208 | WARS2 | c.833T>G (p.Val278Gly) c.*199T>G (n.*199T>G) c.779T>G (p.Val260Gly) c.551T>G (p.Val184Gly) c.764T>G (p.Val255Gly) c.575T>G (p.Val192Gly) c.776T>G (p.Val259Gly) c.662T>G (p.Val221Gly) c.494T>G (p.Val165Gly) c.*168T>G (n.*168T>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.119033161A>G | CA341436530 | WARS2 | c.833T>C (p.Val278Ala) c.*199T>C (n.*199T>C) c.779T>C (p.Val260Ala) c.551T>C (p.Val184Ala) c.764T>C (p.Val255Ala) c.575T>C (p.Val192Ala) c.776T>C (p.Val259Ala) c.662T>C (p.Val221Ala) c.494T>C (p.Val165Ala) c.*168T>C (n.*168T>C) | dbSNP |
1 | g.119033161A>T | CA341436531 | WARS2 | c.833T>A (p.Val278Glu) c.*199T>A (n.*199T>A) c.779T>A (p.Val260Glu) c.551T>A (p.Val184Glu) c.764T>A (p.Val255Glu) c.575T>A (p.Val192Glu) c.776T>A (p.Val259Glu) c.662T>A (p.Val221Glu) c.494T>A (p.Val165Glu) c.*168T>A (n.*168T>A) | |
1 | g.119033162C>A | CA341436533 | WARS2 | c.832G>T (p.Val278Leu) c.*198G>T (n.*198G>T) c.778G>T (p.Val260Leu) c.550G>T (p.Val184Leu) c.763G>T (p.Val255Leu) c.574G>T (p.Val192Leu) c.775G>T (p.Val259Leu) c.661G>T (p.Val221Leu) c.493G>T (p.Val165Leu) c.*167G>T (n.*167G>T) | |
1 | g.119033162C= | CA1192128183 | WARS2 | c.832G= (p.Val278=) c.*198G= (n.*198G=) c.778G= (p.Val260=) c.550G= (p.Val184=) c.763G= (p.Val255=) c.574G= (p.Val192=) c.775G= (p.Val259=) c.661G= (p.Val221=) c.493G= (p.Val165=) c.*167G= (n.*167G=) | |
1 | g.119033162C>G | CA341436534 | WARS2 | c.832G>C (p.Val278Leu) c.*198G>C (n.*198G>C) c.778G>C (p.Val260Leu) c.550G>C (p.Val184Leu) c.763G>C (p.Val255Leu) c.574G>C (p.Val192Leu) c.775G>C (p.Val259Leu) c.661G>C (p.Val221Leu) c.493G>C (p.Val165Leu) c.*167G>C (n.*167G>C) | |
1 | g.119033162C>T | CA341436532 | WARS2 | c.832G>A (p.Val278Met) c.*198G>A (n.*198G>A) c.778G>A (p.Val260Met) c.550G>A (p.Val184Met) c.763G>A (p.Val255Met) c.574G>A (p.Val192Met) c.775G>A (p.Val259Met) c.661G>A (p.Val221Met) c.493G>A (p.Val165Met) c.*167G>A (n.*167G>A) | dbSNP |
1 | g.119033163C>A | CA420192563 | WARS2 | c.831G>T (p.Ala277=) c.*197G>T (n.*197G>T) c.777G>T (p.Ala259=) c.549G>T (p.Ala183=) c.762G>T (p.Ala254=) c.573G>T (p.Ala191=) c.774G>T (p.Ala258=) c.660G>T (p.Ala220=) c.492G>T (p.Ala164=) c.*166G>T (n.*166G>T) | gnomAD v4 |
1 | g.119033163C= | CA1192128184 | WARS2 | c.831G= (p.Ala277=) c.*197G= (n.*197G=) c.777G= (p.Ala259=) c.549G= (p.Ala183=) c.762G= (p.Ala254=) c.573G= (p.Ala191=) c.774G= (p.Ala258=) c.660G= (p.Ala220=) c.492G= (p.Ala164=) c.*166G= (n.*166G=) | |
1 | g.119033163C>G | CA420192565 | WARS2 | c.831G>C (p.Ala277=) c.*197G>C (n.*197G>C) c.777G>C (p.Ala259=) c.549G>C (p.Ala183=) c.762G>C (p.Ala254=) c.573G>C (p.Ala191=) c.774G>C (p.Ala258=) c.660G>C (p.Ala220=) c.492G>C (p.Ala164=) c.*166G>C (n.*166G>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.119033163C>T | CA30376562 | WARS2 | c.831G>A (p.Ala277=) c.*197G>A (n.*197G>A) c.777G>A (p.Ala259=) c.549G>A (p.Ala183=) c.762G>A (p.Ala254=) c.573G>A (p.Ala191=) c.774G>A (p.Ala258=) c.660G>A (p.Ala220=) c.492G>A (p.Ala164=) c.*166G>A (n.*166G>A) | dbSNP gnomAD v4 |
1 | g.119033164G>A | CA1035209 | WARS2 | c.830C>T (p.Ala277Val) c.*196C>T (n.*196C>T) c.776C>T (p.Ala259Val) c.548C>T (p.Ala183Val) c.761C>T (p.Ala254Val) c.572C>T (p.Ala191Val) c.773C>T (p.Ala258Val) c.659C>T (p.Ala220Val) c.491C>T (p.Ala164Val) c.*165C>T (n.*165C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.119033164G>C | CA341436535 | WARS2 | c.830C>G (p.Ala277Gly) c.*196C>G (n.*196C>G) c.776C>G (p.Ala259Gly) c.548C>G (p.Ala183Gly) c.761C>G (p.Ala254Gly) c.572C>G (p.Ala191Gly) c.773C>G (p.Ala258Gly) c.659C>G (p.Ala220Gly) c.491C>G (p.Ala164Gly) c.*165C>G (n.*165C>G) | |
1 | g.119033164G= | CA1192128185 | WARS2 | c.830C= (p.Ala277=) c.*196C= (n.*196C=) c.776C= (p.Ala259=) c.548C= (p.Ala183=) c.761C= (p.Ala254=) c.572C= (p.Ala191=) c.773C= (p.Ala258=) c.659C= (p.Ala220=) c.491C= (p.Ala164=) c.*165C= (n.*165C=) | |
1 | g.119033164G>T | CA341436536 | WARS2 | c.830C>A (p.Ala277Glu) c.*196C>A (n.*196C>A) c.776C>A (p.Ala259Glu) c.548C>A (p.Ala183Glu) c.761C>A (p.Ala254Glu) c.572C>A (p.Ala191Glu) c.773C>A (p.Ala258Glu) c.659C>A (p.Ala220Glu) c.491C>A (p.Ala164Glu) c.*165C>A (n.*165C>A) | |
1 | g.119033165C>A | CA341436537 | WARS2 | c.829G>T (p.Ala277Ser) c.*195G>T (n.*195G>T) c.775G>T (p.Ala259Ser) c.547G>T (p.Ala183Ser) c.760G>T (p.Ala254Ser) c.571G>T (p.Ala191Ser) c.772G>T (p.Ala258Ser) c.658G>T (p.Ala220Ser) c.490G>T (p.Ala164Ser) c.*164G>T (n.*164G>T) | |
1 | g.119033165C>G | CA341436538 | WARS2 | c.829G>C (p.Ala277Pro) c.*195G>C (n.*195G>C) c.775G>C (p.Ala259Pro) c.547G>C (p.Ala183Pro) c.760G>C (p.Ala254Pro) c.571G>C (p.Ala191Pro) c.772G>C (p.Ala258Pro) c.658G>C (p.Ala220Pro) c.490G>C (p.Ala164Pro) c.*164G>C (n.*164G>C) | |
1 | g.119033165C>T | CA341436539 | WARS2 | c.829G>A (p.Ala277Thr) c.*195G>A (n.*195G>A) c.775G>A (p.Ala259Thr) c.547G>A (p.Ala183Thr) c.760G>A (p.Ala254Thr) c.571G>A (p.Ala191Thr) c.772G>A (p.Ala258Thr) c.658G>A (p.Ala220Thr) c.490G>A (p.Ala164Thr) c.*164G>A (n.*164G>A) | |
1 | g.119033166del | CA2838620751 | WARS2 | c.829del (p.Ala277ArgfsTer6) c.*195del (n.*195del) c.775del (p.Ala259ArgfsTer6) c.547del (p.Ala183ArgfsTer6) c.760del (p.Ala254ArgfsTer6) c.571del (p.Ala191ArgfsTer6) c.772del (p.Ala258ArgfsTer6) c.658del (p.Ala220ArgfsTer6) c.490del (p.Ala164ArgfsTer6) c.*164del (n.*164del) | |
1 | g.119033166C>A | CA420192574 | WARS2 | c.828G>T (p.Val276=) c.*194G>T (n.*194G>T) c.774G>T (p.Val258=) c.546G>T (p.Val182=) c.759G>T (p.Val253=) c.570G>T (p.Val190=) c.771G>T (p.Val257=) c.657G>T (p.Val219=) c.489G>T (p.Val163=) c.*163G>T (n.*163G>T) | |
1 | g.119033166C>G | CA420192576 | WARS2 | c.828G>C (p.Val276=) c.*194G>C (n.*194G>C) c.774G>C (p.Val258=) c.546G>C (p.Val182=) c.759G>C (p.Val253=) c.570G>C (p.Val190=) c.771G>C (p.Val257=) c.657G>C (p.Val219=) c.489G>C (p.Val163=) c.*163G>C (n.*163G>C) | |
1 | g.119033166C>T | CA420192577 | WARS2 | c.828G>A (p.Val276=) c.*194G>A (n.*194G>A) c.774G>A (p.Val258=) c.546G>A (p.Val182=) c.759G>A (p.Val253=) c.570G>A (p.Val190=) c.771G>A (p.Val257=) c.657G>A (p.Val219=) c.489G>A (p.Val163=) c.*163G>A (n.*163G>A) | |
1 | g.119033167A>C | CA341436540 | WARS2 | c.827T>G (p.Val276Gly) c.*193T>G (n.*193T>G) c.773T>G (p.Val258Gly) c.545T>G (p.Val182Gly) c.758T>G (p.Val253Gly) c.569T>G (p.Val190Gly) c.770T>G (p.Val257Gly) c.656T>G (p.Val219Gly) c.488T>G (p.Val163Gly) c.*162T>G (n.*162T>G) | gnomAD v4 |
1 | g.119033167A>G | CA341436542 | WARS2 | c.827T>C (p.Val276Ala) c.*193T>C (n.*193T>C) c.773T>C (p.Val258Ala) c.545T>C (p.Val182Ala) c.758T>C (p.Val253Ala) c.569T>C (p.Val190Ala) c.770T>C (p.Val257Ala) c.656T>C (p.Val219Ala) c.488T>C (p.Val163Ala) c.*162T>C (n.*162T>C) | |
1 | g.119033167A>T | CA341436541 | WARS2 | c.827T>A (p.Val276Glu) c.*193T>A (n.*193T>A) c.773T>A (p.Val258Glu) c.545T>A (p.Val182Glu) c.758T>A (p.Val253Glu) c.569T>A (p.Val190Glu) c.770T>A (p.Val257Glu) c.656T>A (p.Val219Glu) c.488T>A (p.Val163Glu) c.*162T>A (n.*162T>A) | |
1 | g.119033168C>A | CA341436543 | WARS2 | c.826G>T (p.Val276Leu) c.*192G>T (n.*192G>T) c.772G>T (p.Val258Leu) c.544G>T (p.Val182Leu) c.757G>T (p.Val253Leu) c.568G>T (p.Val190Leu) c.769G>T (p.Val257Leu) c.655G>T (p.Val219Leu) c.487G>T (p.Val163Leu) c.*161G>T (n.*161G>T) | |
1 | g.119033168C>G | CA341436544 | WARS2 | c.826G>C (p.Val276Leu) c.*192G>C (n.*192G>C) c.772G>C (p.Val258Leu) c.544G>C (p.Val182Leu) c.757G>C (p.Val253Leu) c.568G>C (p.Val190Leu) c.769G>C (p.Val257Leu) c.655G>C (p.Val219Leu) c.487G>C (p.Val163Leu) c.*161G>C (n.*161G>C) | |
1 | g.119033168C>T | CA341436545 | WARS2 | c.826G>A (p.Val276Met) c.*192G>A (n.*192G>A) c.772G>A (p.Val258Met) c.544G>A (p.Val182Met) c.757G>A (p.Val253Met) c.568G>A (p.Val190Met) c.769G>A (p.Val257Met) c.655G>A (p.Val219Met) c.487G>A (p.Val163Met) c.*161G>A (n.*161G>A) | |
1 | g.119033169T>A | CA420192588 | WARS2 | c.825A>T (p.Ile275=) c.*191A>T (n.*191A>T) c.771A>T (p.Ile257=) c.543A>T (p.Ile181=) c.756A>T (p.Ile252=) c.567A>T (p.Ile189=) c.768A>T (p.Ile256=) c.654A>T (p.Ile218=) c.486A>T (p.Ile162=) c.*160A>T (n.*160A>T) | |
1 | g.119033169T>C | CA341436546 | WARS2 | c.825A>G (p.Ile275Met) c.*191A>G (n.*191A>G) c.771A>G (p.Ile257Met) c.543A>G (p.Ile181Met) c.756A>G (p.Ile252Met) c.567A>G (p.Ile189Met) c.768A>G (p.Ile256Met) c.654A>G (p.Ile218Met) c.486A>G (p.Ile162Met) c.*160A>G (n.*160A>G) | |
1 | g.119033169T>G | CA420192589 | WARS2 | c.825A>C (p.Ile275=) c.*191A>C (n.*191A>C) c.771A>C (p.Ile257=) c.543A>C (p.Ile181=) c.756A>C (p.Ile252=) c.567A>C (p.Ile189=) c.768A>C (p.Ile256=) c.654A>C (p.Ile218=) c.486A>C (p.Ile162=) c.*160A>C (n.*160A>C) | |
1 | g.119033170A>C | CA341436549 | WARS2 | c.824T>G (p.Ile275Arg) c.*190T>G (n.*190T>G) c.770T>G (p.Ile257Arg) c.542T>G (p.Ile181Arg) c.755T>G (p.Ile252Arg) c.566T>G (p.Ile189Arg) c.767T>G (p.Ile256Arg) c.653T>G (p.Ile218Arg) c.485T>G (p.Ile162Arg) c.*159T>G (n.*159T>G) | |
1 | g.119033170A>G | CA341436548 | WARS2 | c.824T>C (p.Ile275Thr) c.*190T>C (n.*190T>C) c.770T>C (p.Ile257Thr) c.542T>C (p.Ile181Thr) c.755T>C (p.Ile252Thr) c.566T>C (p.Ile189Thr) c.767T>C (p.Ile256Thr) c.653T>C (p.Ile218Thr) c.485T>C (p.Ile162Thr) c.*159T>C (n.*159T>C) | ClinVar dbSNP |
1 | g.119033170A>T | CA341436547 | WARS2 | c.824T>A (p.Ile275Lys) c.*190T>A (n.*190T>A) c.770T>A (p.Ile257Lys) c.542T>A (p.Ile181Lys) c.755T>A (p.Ile252Lys) c.566T>A (p.Ile189Lys) c.767T>A (p.Ile256Lys) c.653T>A (p.Ile218Lys) c.485T>A (p.Ile162Lys) c.*159T>A (n.*159T>A) | |
1 | g.119033171T>A | CA341436550 | WARS2 | c.823A>T (p.Ile275Leu) c.*189A>T (n.*189A>T) c.769A>T (p.Ile257Leu) c.541A>T (p.Ile181Leu) c.754A>T (p.Ile252Leu) c.565A>T (p.Ile189Leu) c.766A>T (p.Ile256Leu) c.652A>T (p.Ile218Leu) c.484A>T (p.Ile162Leu) c.*158A>T (n.*158A>T) | |
1 | g.119033171T>C | CA1035210 | WARS2 | c.823A>G (p.Ile275Val) c.*189A>G (n.*189A>G) c.769A>G (p.Ile257Val) c.541A>G (p.Ile181Val) c.754A>G (p.Ile252Val) c.565A>G (p.Ile189Val) c.766A>G (p.Ile256Val) c.652A>G (p.Ile218Val) c.484A>G (p.Ile162Val) c.*158A>G (n.*158A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.119033171T>G | CA341436551 | WARS2 | c.823A>C (p.Ile275Leu) c.*189A>C (n.*189A>C) c.769A>C (p.Ile257Leu) c.541A>C (p.Ile181Leu) c.754A>C (p.Ile252Leu) c.565A>C (p.Ile189Leu) c.766A>C (p.Ile256Leu) c.652A>C (p.Ile218Leu) c.484A>C (p.Ile162Leu) c.*158A>C (n.*158A>C) | |
1 | g.119033171T= | CA1192128186 | WARS2 | c.823A= (p.Ile275=) c.*189A= (n.*189A=) c.769A= (p.Ile257=) c.541A= (p.Ile181=) c.754A= (p.Ile252=) c.565A= (p.Ile189=) c.766A= (p.Ile256=) c.652A= (p.Ile218=) c.484A= (p.Ile162=) c.*158A= (n.*158A=) | |
1 | g.119033172G>A | CA420192596 | WARS2 | c.822C>T (p.Asn274=) c.*188C>T (n.*188C>T) c.768C>T (p.Asn256=) c.540C>T (p.Asn180=) c.753C>T (p.Asn251=) c.564C>T (p.Asn188=) c.765C>T (p.Asn255=) c.651C>T (p.Asn217=) c.483C>T (p.Asn161=) c.*157C>T (n.*157C>T) | |
1 | g.119033172G>C | CA341436552 | WARS2 | c.822C>G (p.Asn274Lys) c.*188C>G (n.*188C>G) c.768C>G (p.Asn256Lys) c.540C>G (p.Asn180Lys) c.753C>G (p.Asn251Lys) c.564C>G (p.Asn188Lys) c.765C>G (p.Asn255Lys) c.651C>G (p.Asn217Lys) c.483C>G (p.Asn161Lys) c.*157C>G (n.*157C>G) | |
1 | g.119033172G>T | CA341436553 | WARS2 | c.822C>A (p.Asn274Lys) c.*188C>A (n.*188C>A) c.768C>A (p.Asn256Lys) c.540C>A (p.Asn180Lys) c.753C>A (p.Asn251Lys) c.564C>A (p.Asn188Lys) c.765C>A (p.Asn255Lys) c.651C>A (p.Asn217Lys) c.483C>A (p.Asn161Lys) c.*157C>A (n.*157C>A) | |
1 | g.119033173T>A | CA341436556 | WARS2 | c.821A>T (p.Asn274Ile) c.*187A>T (n.*187A>T) c.767A>T (p.Asn256Ile) c.539A>T (p.Asn180Ile) c.752A>T (p.Asn251Ile) c.563A>T (p.Asn188Ile) c.764A>T (p.Asn255Ile) c.650A>T (p.Asn217Ile) c.482A>T (p.Asn161Ile) c.*156A>T (n.*156A>T) | |
1 | g.119033173T>C | CA341436555 | WARS2 | c.821A>G (p.Asn274Ser) c.*187A>G (n.*187A>G) c.767A>G (p.Asn256Ser) c.539A>G (p.Asn180Ser) c.752A>G (p.Asn251Ser) c.563A>G (p.Asn188Ser) c.764A>G (p.Asn255Ser) c.650A>G (p.Asn217Ser) c.482A>G (p.Asn161Ser) c.*156A>G (n.*156A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.119033173T>G | CA341436554 | WARS2 | c.821A>C (p.Asn274Thr) c.*187A>C (n.*187A>C) c.767A>C (p.Asn256Thr) c.539A>C (p.Asn180Thr) c.752A>C (p.Asn251Thr) c.563A>C (p.Asn188Thr) c.764A>C (p.Asn255Thr) c.650A>C (p.Asn217Thr) c.482A>C (p.Asn161Thr) c.*156A>C (n.*156A>C) | |
1 | g.119033173T= | CA1192128187 | WARS2 | c.821A= (p.Asn274=) c.*187A= (n.*187A=) c.767A= (p.Asn256=) c.539A= (p.Asn180=) c.752A= (p.Asn251=) c.563A= (p.Asn188=) c.764A= (p.Asn255=) c.650A= (p.Asn217=) c.482A= (p.Asn161=) c.*156A= (n.*156A=) | |
1 | g.119033174T>A | CA341436557 | WARS2 | c.820A>T (p.Asn274Tyr) c.*186A>T (n.*186A>T) c.766A>T (p.Asn256Tyr) c.538A>T (p.Asn180Tyr) c.751A>T (p.Asn251Tyr) c.562A>T (p.Asn188Tyr) c.763A>T (p.Asn255Tyr) c.649A>T (p.Asn217Tyr) c.481A>T (p.Asn161Tyr) c.*155A>T (n.*155A>T) | |
1 | g.119033174T>C | CA341436558 | WARS2 | c.820A>G (p.Asn274Asp) c.*186A>G (n.*186A>G) c.766A>G (p.Asn256Asp) c.538A>G (p.Asn180Asp) c.751A>G (p.Asn251Asp) c.562A>G (p.Asn188Asp) c.763A>G (p.Asn255Asp) c.649A>G (p.Asn217Asp) c.481A>G (p.Asn161Asp) c.*155A>G (n.*155A>G) | |
1 | g.119033174T>G | CA341436559 | WARS2 | c.820A>C (p.Asn274His) c.*186A>C (n.*186A>C) c.766A>C (p.Asn256His) c.538A>C (p.Asn180His) c.751A>C (p.Asn251His) c.562A>C (p.Asn188His) c.763A>C (p.Asn255His) c.649A>C (p.Asn217His) c.481A>C (p.Asn161His) c.*155A>C (n.*155A>C) | |
1 | g.119033175G>A | CA420192601 | WARS2 | c.819C>T (p.Ser273=) c.*185C>T (n.*185C>T) c.765C>T (p.Ser255=) c.537C>T (p.Ser179=) c.750C>T (p.Ser250=) c.561C>T (p.Ser187=) c.762C>T (p.Ser254=) c.648C>T (p.Ser216=) c.480C>T (p.Ser160=) c.*154C>T (n.*154C>T) | gnomAD v4 |
1 | g.119033175G>C | CA420192602 | WARS2 | c.819C>G (p.Ser273=) c.*185C>G (n.*185C>G) c.765C>G (p.Ser255=) c.537C>G (p.Ser179=) c.750C>G (p.Ser250=) c.561C>G (p.Ser187=) c.762C>G (p.Ser254=) c.648C>G (p.Ser216=) c.480C>G (p.Ser160=) c.*154C>G (n.*154C>G) | |
1 | g.119033175G>T | CA420192603 | WARS2 | c.819C>A (p.Ser273=) c.*185C>A (n.*185C>A) c.765C>A (p.Ser255=) c.537C>A (p.Ser179=) c.750C>A (p.Ser250=) c.561C>A (p.Ser187=) c.762C>A (p.Ser254=) c.648C>A (p.Ser216=) c.480C>A (p.Ser160=) c.*154C>A (n.*154C>A) | |
1 | g.119033176del | CA2647370034 | WARS2 | c.819del (p.Asn274ThrfsTer2) c.*185del (n.*185del) c.765del (p.Asn256ThrfsTer2) c.537del (p.Asn180ThrfsTer2) c.750del (p.Asn251ThrfsTer2) c.561del (p.Asn188ThrfsTer2) c.762del (p.Asn255ThrfsTer2) c.648del (p.Asn217ThrfsTer2) c.480del (p.Asn161ThrfsTer2) c.*154del (n.*154del) | gnomAD v4 |
1 | g.119033176G>A | CA341436560 | WARS2 | c.818C>T (p.Ser273Phe) c.*184C>T (n.*184C>T) c.764C>T (p.Ser255Phe) c.536C>T (p.Ser179Phe) c.749C>T (p.Ser250Phe) c.560C>T (p.Ser187Phe) c.761C>T (p.Ser254Phe) c.647C>T (p.Ser216Phe) c.479C>T (p.Ser160Phe) c.*153C>T (n.*153C>T) | |
1 | g.119033176G>C | CA341436561 | WARS2 | c.818C>G (p.Ser273Cys) c.*184C>G (n.*184C>G) c.764C>G (p.Ser255Cys) c.536C>G (p.Ser179Cys) c.749C>G (p.Ser250Cys) c.560C>G (p.Ser187Cys) c.761C>G (p.Ser254Cys) c.647C>G (p.Ser216Cys) c.479C>G (p.Ser160Cys) c.*153C>G (n.*153C>G) | |
1 | g.119033176G>T | CA341436562 | WARS2 | c.818C>A (p.Ser273Tyr) c.*184C>A (n.*184C>A) c.764C>A (p.Ser255Tyr) c.536C>A (p.Ser179Tyr) c.749C>A (p.Ser250Tyr) c.560C>A (p.Ser187Tyr) c.761C>A (p.Ser254Tyr) c.647C>A (p.Ser216Tyr) c.479C>A (p.Ser160Tyr) c.*153C>A (n.*153C>A) | |
1 | g.119033177A>C | CA341436565 | WARS2 | c.817T>G (p.Ser273Ala) c.*183T>G (n.*183T>G) c.763T>G (p.Ser255Ala) c.535T>G (p.Ser179Ala) c.748T>G (p.Ser250Ala) c.559T>G (p.Ser187Ala) c.760T>G (p.Ser254Ala) c.646T>G (p.Ser216Ala) c.478T>G (p.Ser160Ala) c.*152T>G (n.*152T>G) | |
1 | g.119033177A>G | CA341436563 | WARS2 | c.817T>C (p.Ser273Pro) c.*183T>C (n.*183T>C) c.763T>C (p.Ser255Pro) c.535T>C (p.Ser179Pro) c.748T>C (p.Ser250Pro) c.559T>C (p.Ser187Pro) c.760T>C (p.Ser254Pro) c.646T>C (p.Ser216Pro) c.478T>C (p.Ser160Pro) c.*152T>C (n.*152T>C) | |
1 | g.119033177A>T | CA341436564 | WARS2 | c.817T>A (p.Ser273Thr) c.*183T>A (n.*183T>A) c.763T>A (p.Ser255Thr) c.535T>A (p.Ser179Thr) c.748T>A (p.Ser250Thr) c.559T>A (p.Ser187Thr) c.760T>A (p.Ser254Thr) c.646T>A (p.Ser216Thr) c.478T>A (p.Ser160Thr) c.*152T>A (n.*152T>A) | |
1 | g.119033178C>A | CA420192612 | WARS2 | c.816G>T (p.Val272=) c.*182G>T (n.*182G>T) c.762G>T (p.Val254=) c.534G>T (p.Val178=) c.747G>T (p.Val249=) c.558G>T (p.Val186=) c.759G>T (p.Val253=) c.645G>T (p.Val215=) c.477G>T (p.Val159=) c.*151G>T (n.*151G>T) | |
1 | g.119033178C= | CA1192128188 | WARS2 | c.816G= (p.Val272=) c.*182G= (n.*182G=) c.762G= (p.Val254=) c.534G= (p.Val178=) c.747G= (p.Val249=) c.558G= (p.Val186=) c.759G= (p.Val253=) c.645G= (p.Val215=) c.477G= (p.Val159=) c.*151G= (n.*151G=) | |
1 | g.119033178C>G | CA420192615 | WARS2 | c.816G>C (p.Val272=) c.*182G>C (n.*182G>C) c.762G>C (p.Val254=) c.534G>C (p.Val178=) c.747G>C (p.Val249=) c.558G>C (p.Val186=) c.759G>C (p.Val253=) c.645G>C (p.Val215=) c.477G>C (p.Val159=) c.*151G>C (n.*151G>C) | |
1 | g.119033178C>T | CA420192616 | WARS2 | c.816G>A (p.Val272=) c.*182G>A (n.*182G>A) c.762G>A (p.Val254=) c.534G>A (p.Val178=) c.747G>A (p.Val249=) c.558G>A (p.Val186=) c.759G>A (p.Val253=) c.645G>A (p.Val215=) c.477G>A (p.Val159=) c.*151G>A (n.*151G>A) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.119033179A>C | CA341436566 | WARS2 | c.815T>G (p.Val272Gly) c.*181T>G (n.*181T>G) c.761T>G (p.Val254Gly) c.533T>G (p.Val178Gly) c.746T>G (p.Val249Gly) c.557T>G (p.Val186Gly) c.758T>G (p.Val253Gly) c.644T>G (p.Val215Gly) c.476T>G (p.Val159Gly) c.*150T>G (n.*150T>G) | gnomAD v4 |
1 | g.119033179A>G | CA341436567 | WARS2 | c.815T>C (p.Val272Ala) c.*181T>C (n.*181T>C) c.761T>C (p.Val254Ala) c.533T>C (p.Val178Ala) c.746T>C (p.Val249Ala) c.557T>C (p.Val186Ala) c.758T>C (p.Val253Ala) c.644T>C (p.Val215Ala) c.476T>C (p.Val159Ala) c.*150T>C (n.*150T>C) | gnomAD v4 |
1 | g.119033179A>T | CA341436568 | WARS2 | c.815T>A (p.Val272Glu) c.*181T>A (n.*181T>A) c.761T>A (p.Val254Glu) c.533T>A (p.Val178Glu) c.746T>A (p.Val249Glu) c.557T>A (p.Val186Glu) c.758T>A (p.Val253Glu) c.644T>A (p.Val215Glu) c.476T>A (p.Val159Glu) c.*150T>A (n.*150T>A) | |
1 | g.119033180C>A | CA341436569 | WARS2 | c.814G>T (p.Val272Leu) c.*180G>T (n.*180G>T) c.760G>T (p.Val254Leu) c.532G>T (p.Val178Leu) c.745G>T (p.Val249Leu) c.556G>T (p.Val186Leu) c.757G>T (p.Val253Leu) c.643G>T (p.Val215Leu) c.475G>T (p.Val159Leu) c.*149G>T (n.*149G>T) | |
1 | g.119033180C= | CA1146266069 | WARS2 | c.814G= (p.Val272=) c.*180G= (n.*180G=) c.760G= (p.Val254=) c.532G= (p.Val178=) c.745G= (p.Val249=) c.556G= (p.Val186=) c.757G= (p.Val253=) c.643G= (p.Val215=) c.475G= (p.Val159=) c.*149G= (n.*149G=) | |
1 | g.119033180C>G | CA341436570 | WARS2 | c.814G>C (p.Val272Leu) c.*180G>C (n.*180G>C) c.760G>C (p.Val254Leu) c.532G>C (p.Val178Leu) c.745G>C (p.Val249Leu) c.556G>C (p.Val186Leu) c.757G>C (p.Val253Leu) c.643G>C (p.Val215Leu) c.475G>C (p.Val159Leu) c.*149G>C (n.*149G>C) | |
1 | g.119033180C>T | CA1035211 | WARS2 | c.814G>A (p.Val272Met) c.*180G>A (n.*180G>A) c.760G>A (p.Val254Met) c.532G>A (p.Val178Met) c.745G>A (p.Val249Met) c.556G>A (p.Val186Met) c.757G>A (p.Val253Met) c.643G>A (p.Val215Met) c.475G>A (p.Val159Met) c.*149G>A (n.*149G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.119033181G>A | CA420192622 | WARS2 | c.813C>T (p.Gly271=) c.*179C>T (n.*179C>T) c.759C>T (p.Gly253=) c.531C>T (p.Gly177=) c.744C>T (p.Gly248=) c.555C>T (p.Gly185=) c.756C>T (p.Gly252=) c.642C>T (p.Gly214=) c.474C>T (p.Gly158=) c.*148C>T (n.*148C>T) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
1 | g.119033181G>C | CA420192621 | WARS2 | c.813C>G (p.Gly271=) c.*179C>G (n.*179C>G) c.759C>G (p.Gly253=) c.531C>G (p.Gly177=) c.744C>G (p.Gly248=) c.555C>G (p.Gly185=) c.756C>G (p.Gly252=) c.642C>G (p.Gly214=) c.474C>G (p.Gly158=) c.*148C>G (n.*148C>G) | |
1 | g.119033181G= | CA1192128189 | WARS2 | c.813C= (p.Gly271=) c.*179C= (n.*179C=) c.759C= (p.Gly253=) c.531C= (p.Gly177=) c.744C= (p.Gly248=) c.555C= (p.Gly185=) c.756C= (p.Gly252=) c.642C= (p.Gly214=) c.474C= (p.Gly158=) c.*148C= (n.*148C=) | |
1 | g.119033181G>T | CA420192620 | WARS2 | c.813C>A (p.Gly271=) c.*179C>A (n.*179C>A) c.759C>A (p.Gly253=) c.531C>A (p.Gly177=) c.744C>A (p.Gly248=) c.555C>A (p.Gly185=) c.756C>A (p.Gly252=) c.642C>A (p.Gly214=) c.474C>A (p.Gly158=) c.*148C>A (n.*148C>A) | |
1 | g.119033182C>A | CA341436571 | WARS2 | c.812G>T (p.Gly271Val) c.*178G>T (n.*178G>T) c.758G>T (p.Gly253Val) c.530G>T (p.Gly177Val) c.743G>T (p.Gly248Val) c.554G>T (p.Gly185Val) c.755G>T (p.Gly252Val) c.641G>T (p.Gly214Val) c.473G>T (p.Gly158Val) c.*147G>T (n.*147G>T) | |
1 | g.119033182C= | CA1148455999 | WARS2 | c.812G= (p.Gly271=) c.*178G= (n.*178G=) c.758G= (p.Gly253=) c.530G= (p.Gly177=) c.743G= (p.Gly248=) c.554G= (p.Gly185=) c.755G= (p.Gly252=) c.641G= (p.Gly214=) c.473G= (p.Gly158=) c.*147G= (n.*147G=) | |
1 | g.119033182C>G | CA341436572 | WARS2 | c.812G>C (p.Gly271Ala) c.*178G>C (n.*178G>C) c.758G>C (p.Gly253Ala) c.530G>C (p.Gly177Ala) c.743G>C (p.Gly248Ala) c.554G>C (p.Gly185Ala) c.755G>C (p.Gly252Ala) c.641G>C (p.Gly214Ala) c.473G>C (p.Gly158Ala) c.*147G>C (n.*147G>C) | |
1 | g.119033182C>T | CA1035212 | WARS2 | c.812G>A (p.Gly271Asp) c.*178G>A (n.*178G>A) c.758G>A (p.Gly253Asp) c.530G>A (p.Gly177Asp) c.743G>A (p.Gly248Asp) c.554G>A (p.Gly185Asp) c.755G>A (p.Gly252Asp) c.641G>A (p.Gly214Asp) c.473G>A (p.Gly158Asp) c.*147G>A (n.*147G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.119033183C>A | CA341436573 | WARS2 | c.811G>T (p.Gly271Cys) c.*177G>T (n.*177G>T) c.757G>T (p.Gly253Cys) c.529G>T (p.Gly177Cys) c.742G>T (p.Gly248Cys) c.553G>T (p.Gly185Cys) c.754G>T (p.Gly252Cys) c.640G>T (p.Gly214Cys) c.472G>T (p.Gly158Cys) c.*146G>T (n.*146G>T) | |
1 | g.119033183C>G | CA341436574 | WARS2 | c.811G>C (p.Gly271Arg) c.*177G>C (n.*177G>C) c.757G>C (p.Gly253Arg) c.529G>C (p.Gly177Arg) c.742G>C (p.Gly248Arg) c.553G>C (p.Gly185Arg) c.754G>C (p.Gly252Arg) c.640G>C (p.Gly214Arg) c.472G>C (p.Gly158Arg) c.*146G>C (n.*146G>C) | |
1 | g.119033183C>T | CA341436575 | WARS2 | c.811G>A (p.Gly271Ser) c.*177G>A (n.*177G>A) c.757G>A (p.Gly253Ser) c.529G>A (p.Gly177Ser) c.742G>A (p.Gly248Ser) c.553G>A (p.Gly185Ser) c.754G>A (p.Gly252Ser) c.640G>A (p.Gly214Ser) c.472G>A (p.Gly158Ser) c.*146G>A (n.*146G>A) | |
1 | g.119033184A>C | CA420192623 | WARS2 | c.810T>G (p.Ala270=) c.*176T>G (n.*176T>G) c.756T>G (p.Ala252=) c.528T>G (p.Ala176=) c.741T>G (p.Ala247=) c.552T>G (p.Ala184=) c.753T>G (p.Ala251=) c.639T>G (p.Ala213=) c.471T>G (p.Ala157=) c.*145T>G (n.*145T>G) | |
1 | g.119033184A>G | CA420192624 | WARS2 | c.810T>C (p.Ala270=) c.*176T>C (n.*176T>C) c.756T>C (p.Ala252=) c.528T>C (p.Ala176=) c.741T>C (p.Ala247=) c.552T>C (p.Ala184=) c.753T>C (p.Ala251=) c.639T>C (p.Ala213=) c.471T>C (p.Ala157=) c.*145T>C (n.*145T>C) | |
1 | g.119033184A>T | CA420192625 | WARS2 | c.810T>A (p.Ala270=) c.*176T>A (n.*176T>A) c.756T>A (p.Ala252=) c.528T>A (p.Ala176=) c.741T>A (p.Ala247=) c.552T>A (p.Ala184=) c.753T>A (p.Ala251=) c.639T>A (p.Ala213=) c.471T>A (p.Ala157=) c.*145T>A (n.*145T>A) | |
1 | g.119033185G>A | CA341436576 | WARS2 | c.809C>T (p.Ala270Val) c.*175C>T (n.*175C>T) c.755C>T (p.Ala252Val) c.527C>T (p.Ala176Val) c.740C>T (p.Ala247Val) c.551C>T (p.Ala184Val) c.752C>T (p.Ala251Val) c.638C>T (p.Ala213Val) c.470C>T (p.Ala157Val) c.*144C>T (n.*144C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.119033185G>C | CA341436577 | WARS2 | c.809C>G (p.Ala270Gly) c.*175C>G (n.*175C>G) c.755C>G (p.Ala252Gly) c.527C>G (p.Ala176Gly) c.740C>G (p.Ala247Gly) c.551C>G (p.Ala184Gly) c.752C>G (p.Ala251Gly) c.638C>G (p.Ala213Gly) c.470C>G (p.Ala157Gly) c.*144C>G (n.*144C>G) | |
1 | g.119033185G= | CA1192128190 | WARS2 | c.809C= (p.Ala270=) c.*175C= (n.*175C=) c.755C= (p.Ala252=) c.527C= (p.Ala176=) c.740C= (p.Ala247=) c.551C= (p.Ala184=) c.752C= (p.Ala251=) c.638C= (p.Ala213=) c.470C= (p.Ala157=) c.*144C= (n.*144C=) | |
1 | g.119033185G>T | CA1035213 | WARS2 | c.809C>A (p.Ala270Asp) c.*175C>A (n.*175C>A) c.755C>A (p.Ala252Asp) c.527C>A (p.Ala176Asp) c.740C>A (p.Ala247Asp) c.551C>A (p.Ala184Asp) c.752C>A (p.Ala251Asp) c.638C>A (p.Ala213Asp) c.470C>A (p.Ala157Asp) c.*144C>A (n.*144C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.119033186C>A | CA341436578 | WARS2 | c.808G>T (p.Ala270Ser) c.*174G>T (n.*174G>T) c.754G>T (p.Ala252Ser) c.526G>T (p.Ala176Ser) c.739G>T (p.Ala247Ser) c.550G>T (p.Ala184Ser) c.751G>T (p.Ala251Ser) c.637G>T (p.Ala213Ser) c.469G>T (p.Ala157Ser) c.*143G>T (n.*143G>T) | dbSNP gnomAD v4 |
1 | g.119033186C= | CA1192128191 | WARS2 | c.808G= (p.Ala270=) c.*174G= (n.*174G=) c.754G= (p.Ala252=) c.526G= (p.Ala176=) c.739G= (p.Ala247=) c.550G= (p.Ala184=) c.751G= (p.Ala251=) c.637G= (p.Ala213=) c.469G= (p.Ala157=) c.*143G= (n.*143G=) | |
1 | g.119033186C>G | CA341436579 | WARS2 | c.808G>C (p.Ala270Pro) c.*174G>C (n.*174G>C) c.754G>C (p.Ala252Pro) c.526G>C (p.Ala176Pro) c.739G>C (p.Ala247Pro) c.550G>C (p.Ala184Pro) c.751G>C (p.Ala251Pro) c.637G>C (p.Ala213Pro) c.469G>C (p.Ala157Pro) c.*143G>C (n.*143G>C) | |
1 | g.119033186C>T | CA341436580 | WARS2 | c.808G>A (p.Ala270Thr) c.*174G>A (n.*174G>A) c.754G>A (p.Ala252Thr) c.526G>A (p.Ala176Thr) c.739G>A (p.Ala247Thr) c.550G>A (p.Ala184Thr) c.751G>A (p.Ala251Thr) c.637G>A (p.Ala213Thr) c.469G>A (p.Ala157Thr) c.*143G>A (n.*143G>A) | dbSNP gnomAD v4 |
1 | g.119033187G>A | CA420192632 | WARS2 | c.807C>T (p.Arg269=) c.*173C>T (n.*173C>T) c.753C>T (p.Arg251=) c.525C>T (p.Arg175=) c.738C>T (p.Arg246=) c.549C>T (p.Arg183=) c.750C>T (p.Arg250=) c.636C>T (p.Arg212=) c.468C>T (p.Arg156=) c.*142C>T (n.*142C>T) | dbSNP gnomAD v4 |
1 | g.119033187G>C | CA420192634 | WARS2 | c.807C>G (p.Arg269=) c.*173C>G (n.*173C>G) c.753C>G (p.Arg251=) c.525C>G (p.Arg175=) c.738C>G (p.Arg246=) c.549C>G (p.Arg183=) c.750C>G (p.Arg250=) c.636C>G (p.Arg212=) c.468C>G (p.Arg156=) c.*142C>G (n.*142C>G) | |
1 | g.119033187G= | CA1192128192 | WARS2 | c.807C= (p.Arg269=) c.*173C= (n.*173C=) c.753C= (p.Arg251=) c.525C= (p.Arg175=) c.738C= (p.Arg246=) c.549C= (p.Arg183=) c.750C= (p.Arg250=) c.636C= (p.Arg212=) c.468C= (p.Arg156=) c.*142C= (n.*142C=) | |
1 | g.119033187G>T | CA420192633 | WARS2 | c.807C>A (p.Arg269=) c.*173C>A (n.*173C>A) c.753C>A (p.Arg251=) c.525C>A (p.Arg175=) c.738C>A (p.Arg246=) c.549C>A (p.Arg183=) c.750C>A (p.Arg250=) c.636C>A (p.Arg212=) c.468C>A (p.Arg156=) c.*142C>A (n.*142C>A) | |
1 | g.119033188C>A | CA341436581 | WARS2 | c.806G>T (p.Arg269Leu) c.*172G>T (n.*172G>T) c.752G>T (p.Arg251Leu) c.524G>T (p.Arg175Leu) c.737G>T (p.Arg246Leu) c.548G>T (p.Arg183Leu) c.749G>T (p.Arg250Leu) c.635G>T (p.Arg212Leu) c.467G>T (p.Arg156Leu) c.*141G>T (n.*141G>T) | gnomAD v4 |
1 | g.119033188C= | CA1145657315 | WARS2 | c.806G= (p.Arg269=) c.*172G= (n.*172G=) c.752G= (p.Arg251=) c.524G= (p.Arg175=) c.737G= (p.Arg246=) c.548G= (p.Arg183=) c.749G= (p.Arg250=) c.635G= (p.Arg212=) c.467G= (p.Arg156=) c.*141G= (n.*141G=) | |
1 | g.119033188C>G | CA341436582 | WARS2 | c.806G>C (p.Arg269Pro) c.*172G>C (n.*172G>C) c.752G>C (p.Arg251Pro) c.524G>C (p.Arg175Pro) c.737G>C (p.Arg246Pro) c.548G>C (p.Arg183Pro) c.749G>C (p.Arg250Pro) c.635G>C (p.Arg212Pro) c.467G>C (p.Arg156Pro) c.*141G>C (n.*141G>C) | |
1 | g.119033188C>T | CA1035214 | WARS2 | c.806G>A (p.Arg269His) c.*172G>A (n.*172G>A) c.752G>A (p.Arg251His) c.524G>A (p.Arg175His) c.737G>A (p.Arg246His) c.548G>A (p.Arg183His) c.749G>A (p.Arg250His) c.635G>A (p.Arg212His) c.467G>A (p.Arg156His) c.*141G>A (n.*141G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.119033189G>A | CA1035215 | WARS2 | c.805C>T (p.Arg269Cys) c.*171C>T (n.*171C>T) c.751C>T (p.Arg251Cys) c.523C>T (p.Arg175Cys) c.736C>T (p.Arg246Cys) c.547C>T (p.Arg183Cys) c.748C>T (p.Arg250Cys) c.634C>T (p.Arg212Cys) c.466C>T (p.Arg156Cys) c.*140C>T (n.*140C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.119033189G>C | CA341436583 | WARS2 | c.805C>G (p.Arg269Gly) c.*171C>G (n.*171C>G) c.751C>G (p.Arg251Gly) c.523C>G (p.Arg175Gly) c.736C>G (p.Arg246Gly) c.547C>G (p.Arg183Gly) c.748C>G (p.Arg250Gly) c.634C>G (p.Arg212Gly) c.466C>G (p.Arg156Gly) c.*140C>G (n.*140C>G) | gnomAD v4 |
1 | g.119033189G= | CA1143942324 | WARS2 | c.805C= (p.Arg269=) c.*171C= (n.*171C=) c.751C= (p.Arg251=) c.523C= (p.Arg175=) c.736C= (p.Arg246=) c.547C= (p.Arg183=) c.748C= (p.Arg250=) c.634C= (p.Arg212=) c.466C= (p.Arg156=) c.*140C= (n.*140C=) | |
1 | g.119033189G>T | CA341436584 | WARS2 | c.805C>A (p.Arg269Ser) c.*171C>A (n.*171C>A) c.751C>A (p.Arg251Ser) c.523C>A (p.Arg175Ser) c.736C>A (p.Arg246Ser) c.547C>A (p.Arg183Ser) c.748C>A (p.Arg250Ser) c.634C>A (p.Arg212Ser) c.466C>A (p.Arg156Ser) c.*140C>A (n.*140C>A) | |
1 | g.119033190G>A | CA420192639 | WARS2 | c.804C>T (p.Gly268=) c.*170C>T (n.*170C>T) c.750C>T (p.Gly250=) c.522C>T (p.Gly174=) c.735C>T (p.Gly245=) c.546C>T (p.Gly182=) c.747C>T (p.Gly249=) c.633C>T (p.Gly211=) c.465C>T (p.Gly155=) c.*139C>T (n.*139C>T) | |
1 | g.119033190G>C | CA420192640 | WARS2 | c.804C>G (p.Gly268=) c.*170C>G (n.*170C>G) c.750C>G (p.Gly250=) c.522C>G (p.Gly174=) c.735C>G (p.Gly245=) c.546C>G (p.Gly182=) c.747C>G (p.Gly249=) c.633C>G (p.Gly211=) c.465C>G (p.Gly155=) c.*139C>G (n.*139C>G) | |
1 | g.119033190G>T | CA420192641 | WARS2 | c.804C>A (p.Gly268=) c.*170C>A (n.*170C>A) c.750C>A (p.Gly250=) c.522C>A (p.Gly174=) c.735C>A (p.Gly245=) c.546C>A (p.Gly182=) c.747C>A (p.Gly249=) c.633C>A (p.Gly211=) c.465C>A (p.Gly155=) c.*139C>A (n.*139C>A) | |
1 | g.119033191C>A | CA341436585 | WARS2 | c.803G>T (p.Gly268Val) c.*169G>T (n.*169G>T) c.749G>T (p.Gly250Val) c.521G>T (p.Gly174Val) c.734G>T (p.Gly245Val) c.545G>T (p.Gly182Val) c.746G>T (p.Gly249Val) c.632G>T (p.Gly211Val) c.464G>T (p.Gly155Val) c.*138G>T (n.*138G>T) | |
1 | g.119033191C= | CA1192128193 | WARS2 | c.803G= (p.Gly268=) c.*169G= (n.*169G=) c.749G= (p.Gly250=) c.521G= (p.Gly174=) c.734G= (p.Gly245=) c.545G= (p.Gly182=) c.746G= (p.Gly249=) c.632G= (p.Gly211=) c.464G= (p.Gly155=) c.*138G= (n.*138G=) | |
1 | g.119033191C>G | CA341436586 | WARS2 | c.803G>C (p.Gly268Ala) c.*169G>C (n.*169G>C) c.749G>C (p.Gly250Ala) c.521G>C (p.Gly174Ala) c.734G>C (p.Gly245Ala) c.545G>C (p.Gly182Ala) c.746G>C (p.Gly249Ala) c.632G>C (p.Gly211Ala) c.464G>C (p.Gly155Ala) c.*138G>C (n.*138G>C) | dbSNP |
1 | g.119033191C>T | CA341436587 | WARS2 | c.803G>A (p.Gly268Asp) c.*169G>A (n.*169G>A) c.749G>A (p.Gly250Asp) c.521G>A (p.Gly174Asp) c.734G>A (p.Gly245Asp) c.545G>A (p.Gly182Asp) c.746G>A (p.Gly249Asp) c.632G>A (p.Gly211Asp) c.464G>A (p.Gly155Asp) c.*138G>A (n.*138G>A) | |
1 | g.119033192C>A | CA341436590 | WARS2 | c.802G>T (p.Gly268Cys) c.*168G>T (n.*168G>T) c.748G>T (p.Gly250Cys) c.520G>T (p.Gly174Cys) c.733G>T (p.Gly245Cys) c.544G>T (p.Gly182Cys) c.745G>T (p.Gly249Cys) c.631G>T (p.Gly211Cys) c.463G>T (p.Gly155Cys) c.*137G>T (n.*137G>T) | |
1 | g.119033192C>G | CA341436588 | WARS2 | c.802G>C (p.Gly268Arg) c.*168G>C (n.*168G>C) c.748G>C (p.Gly250Arg) c.520G>C (p.Gly174Arg) c.733G>C (p.Gly245Arg) c.544G>C (p.Gly182Arg) c.745G>C (p.Gly249Arg) c.631G>C (p.Gly211Arg) c.463G>C (p.Gly155Arg) c.*137G>C (n.*137G>C) | |
1 | g.119033192C>T | CA341436589 | WARS2 | c.802G>A (p.Gly268Ser) c.*168G>A (n.*168G>A) c.748G>A (p.Gly250Ser) c.520G>A (p.Gly174Ser) c.733G>A (p.Gly245Ser) c.544G>A (p.Gly182Ser) c.745G>A (p.Gly249Ser) c.631G>A (p.Gly211Ser) c.463G>A (p.Gly155Ser) c.*137G>A (n.*137G>A) | |
1 | g.119033193A= | CA1192128194 | WARS2 | c.801T= (p.Ala267=) c.*167T= (n.*167T=) c.747T= (p.Ala249=) c.519T= (p.Ala173=) c.732T= (p.Ala244=) c.543T= (p.Ala181=) c.744T= (p.Ala248=) c.630T= (p.Ala210=) c.462T= (p.Ala154=) c.*136T= (n.*136T=) | |
1 | g.119033193A>C | CA420192646 | WARS2 | c.801T>G (p.Ala267=) c.*167T>G (n.*167T>G) c.747T>G (p.Ala249=) c.519T>G (p.Ala173=) c.732T>G (p.Ala244=) c.543T>G (p.Ala181=) c.744T>G (p.Ala248=) c.630T>G (p.Ala210=) c.462T>G (p.Ala154=) c.*136T>G (n.*136T>G) | |
1 | g.119033193A>G | CA1035216 | WARS2 | c.801T>C (p.Ala267=) c.*167T>C (n.*167T>C) c.747T>C (p.Ala249=) c.519T>C (p.Ala173=) c.732T>C (p.Ala244=) c.543T>C (p.Ala181=) c.744T>C (p.Ala248=) c.630T>C (p.Ala210=) c.462T>C (p.Ala154=) c.*136T>C (n.*136T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.119033193A>T | CA420192648 | WARS2 | c.801T>A (p.Ala267=) c.*167T>A (n.*167T>A) c.747T>A (p.Ala249=) c.519T>A (p.Ala173=) c.732T>A (p.Ala244=) c.543T>A (p.Ala181=) c.744T>A (p.Ala248=) c.630T>A (p.Ala210=) c.462T>A (p.Ala154=) c.*136T>A (n.*136T>A) | |
1 | g.119033194G>A | CA341436591 | WARS2 | c.800C>T (p.Ala267Val) c.*166C>T (n.*166C>T) c.746C>T (p.Ala249Val) c.518C>T (p.Ala173Val) c.731C>T (p.Ala244Val) c.542C>T (p.Ala181Val) c.743C>T (p.Ala248Val) c.629C>T (p.Ala210Val) c.461C>T (p.Ala154Val) c.*135C>T (n.*135C>T) | gnomAD v4 |
1 | g.119033194G>C | CA1035217 | WARS2 | c.800C>G (p.Ala267Gly) c.*166C>G (n.*166C>G) c.746C>G (p.Ala249Gly) c.518C>G (p.Ala173Gly) c.731C>G (p.Ala244Gly) c.542C>G (p.Ala181Gly) c.743C>G (p.Ala248Gly) c.629C>G (p.Ala210Gly) c.461C>G (p.Ala154Gly) c.*135C>G (n.*135C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.119033194G= | CA1192128195 | WARS2 | c.800C= (p.Ala267=) c.*166C= (n.*166C=) c.746C= (p.Ala249=) c.518C= (p.Ala173=) c.731C= (p.Ala244=) c.542C= (p.Ala181=) c.743C= (p.Ala248=) c.629C= (p.Ala210=) c.461C= (p.Ala154=) c.*135C= (n.*135C=) | |
1 | g.119033194G>T | CA341436592 | WARS2 | c.800C>A (p.Ala267Asp) c.*166C>A (n.*166C>A) c.746C>A (p.Ala249Asp) c.518C>A (p.Ala173Asp) c.731C>A (p.Ala244Asp) c.542C>A (p.Ala181Asp) c.743C>A (p.Ala248Asp) c.629C>A (p.Ala210Asp) c.461C>A (p.Ala154Asp) c.*135C>A (n.*135C>A) | |
1 | g.119033194_119033195delinsGC | CA1192128196 | WARS2 | c.799_800delinsGC (p.Ala267=) c.*165_*166delinsGC (n.*165_*166delinsGC) c.745_746delinsGC (p.Ala249=) c.517_518delinsGC (p.Ala173=) c.730_731delinsGC (p.Ala244=) c.541_542delinsGC (p.Ala181=) c.742_743delinsGC (p.Ala248=) c.628_629delinsGC (p.Ala210=) c.460_461delinsGC (p.Ala154=) c.*134_*135delinsGC (n.*134_*135delinsGC) | |
1 | g.119033195C>A | CA341436593 | WARS2 | c.799G>T (p.Ala267Ser) c.*165G>T (n.*165G>T) c.745G>T (p.Ala249Ser) c.517G>T (p.Ala173Ser) c.730G>T (p.Ala244Ser) c.541G>T (p.Ala181Ser) c.742G>T (p.Ala248Ser) c.628G>T (p.Ala210Ser) c.460G>T (p.Ala154Ser) c.*134G>T (n.*134G>T) | |
1 | g.119033195C= | CA1139995786 | WARS2 | c.799G= (p.Ala267=) c.*165G= (n.*165G=) c.745G= (p.Ala249=) c.517G= (p.Ala173=) c.730G= (p.Ala244=) c.541G= (p.Ala181=) c.742G= (p.Ala248=) c.628G= (p.Ala210=) c.460G= (p.Ala154=) c.*134G= (n.*134G=) | |
1 | g.119033195C>G | CA1035218 | WARS2 | c.799G>C (p.Ala267Pro) c.*165G>C (n.*165G>C) c.745G>C (p.Ala249Pro) c.517G>C (p.Ala173Pro) c.730G>C (p.Ala244Pro) c.541G>C (p.Ala181Pro) c.742G>C (p.Ala248Pro) c.628G>C (p.Ala210Pro) c.460G>C (p.Ala154Pro) c.*134G>C (n.*134G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.119033195C>T | CA341436594 | WARS2 | c.799G>A (p.Ala267Thr) c.*165G>A (n.*165G>A) c.745G>A (p.Ala249Thr) c.517G>A (p.Ala173Thr) c.730G>A (p.Ala244Thr) c.541G>A (p.Ala181Thr) c.742G>A (p.Ala248Thr) c.628G>A (p.Ala210Thr) c.460G>A (p.Ala154Thr) c.*134G>A (n.*134G>A) | |
1 | g.119033196del | CA525624366 | WARS2 | c.799del (p.Ala267LeufsTer9) c.*165del (n.*165del) c.745del (p.Ala249LeufsTer9) c.517del (p.Ala173LeufsTer9) c.730del (p.Ala244LeufsTer9) c.541del (p.Ala181LeufsTer9) c.742del (p.Ala248LeufsTer9) c.628del (p.Ala210LeufsTer9) c.460del (p.Ala154LeufsTer9) c.*134del (n.*134del) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.119033196C>A | CA420192661 | WARS2 | c.798G>T (p.Pro266=) c.*164G>T (n.*164G>T) c.744G>T (p.Pro248=) c.516G>T (p.Pro172=) c.729G>T (p.Pro243=) c.540G>T (p.Pro180=) c.741G>T (p.Pro247=) c.627G>T (p.Pro209=) c.459G>T (p.Pro153=) c.*133G>T (n.*133G>T) | |
1 | g.119033196C= | CA1192128198 | WARS2 | c.798G= (p.Pro266=) c.*164G= (n.*164G=) c.744G= (p.Pro248=) c.516G= (p.Pro172=) c.729G= (p.Pro243=) c.540G= (p.Pro180=) c.741G= (p.Pro247=) c.627G= (p.Pro209=) c.459G= (p.Pro153=) c.*133G= (n.*133G=) | |
1 | g.119033196C>G | CA420192656 | WARS2 | c.798G>C (p.Pro266=) c.*164G>C (n.*164G>C) c.744G>C (p.Pro248=) c.516G>C (p.Pro172=) c.729G>C (p.Pro243=) c.540G>C (p.Pro180=) c.741G>C (p.Pro247=) c.627G>C (p.Pro209=) c.459G>C (p.Pro153=) c.*133G>C (n.*133G>C) | |
1 | g.119033196C>T | CA1035220 | WARS2 | c.798G>A (p.Pro266=) c.*164G>A (n.*164G>A) c.744G>A (p.Pro248=) c.516G>A (p.Pro172=) c.729G>A (p.Pro243=) c.540G>A (p.Pro180=) c.741G>A (p.Pro247=) c.627G>A (p.Pro209=) c.459G>A (p.Pro153=) c.*133G>A (n.*133G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.119033196_119033197delinsCG | CA1192128197 | WARS2 | c.797_798delinsCG (p.Pro266=) c.*163_*164delinsCG (n.*163_*164delinsCG) c.743_744delinsCG (p.Pro248=) c.515_516delinsCG (p.Pro172=) c.728_729delinsCG (p.Pro243=) c.539_540delinsCG (p.Pro180=) c.740_741delinsCG (p.Pro247=) c.626_627delinsCG (p.Pro209=) c.458_459delinsCG (p.Pro153=) c.*132_*133delinsCG (n.*132_*133delinsCG) | |
1 | g.119033197G>A | CA1035221 | WARS2 | c.797C>T (p.Pro266Leu) c.*163C>T (n.*163C>T) c.743C>T (p.Pro248Leu) c.515C>T (p.Pro172Leu) c.728C>T (p.Pro243Leu) c.539C>T (p.Pro180Leu) c.740C>T (p.Pro247Leu) c.626C>T (p.Pro209Leu) c.458C>T (p.Pro153Leu) c.*132C>T (n.*132C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.119033197G>C | CA341436595 | WARS2 | c.797C>G (p.Pro266Arg) c.*163C>G (n.*163C>G) c.743C>G (p.Pro248Arg) c.515C>G (p.Pro172Arg) c.728C>G (p.Pro243Arg) c.539C>G (p.Pro180Arg) c.740C>G (p.Pro247Arg) c.626C>G (p.Pro209Arg) c.458C>G (p.Pro153Arg) c.*132C>G (n.*132C>G) | |
1 | g.119033197G= | CA1143629103 | WARS2 | c.797C= (p.Pro266=) c.*163C= (n.*163C=) c.743C= (p.Pro248=) c.515C= (p.Pro172=) c.728C= (p.Pro243=) c.539C= (p.Pro180=) c.740C= (p.Pro247=) c.626C= (p.Pro209=) c.458C= (p.Pro153=) c.*132C= (n.*132C=) | |
1 | g.119033197G>T | CA341436596 | WARS2 | c.797C>A (p.Pro266Gln) c.*163C>A (n.*163C>A) c.743C>A (p.Pro248Gln) c.515C>A (p.Pro172Gln) c.728C>A (p.Pro243Gln) c.539C>A (p.Pro180Gln) c.740C>A (p.Pro247Gln) c.626C>A (p.Pro209Gln) c.458C>A (p.Pro153Gln) c.*132C>A (n.*132C>A) | |
1 | g.119033197_119033199delinsGGG | CA1148364498 | WARS2 | c.795_797delinsCCC (p.Asp265=) c.*161_*163delinsCCC (n.*161_*163delinsCCC) c.741_743delinsCCC (p.Asp247=) c.513_515delinsCCC (p.Asp171=) c.726_728delinsCCC (p.Asp242=) c.537_539delinsCCC (p.Asp179=) c.738_740delinsCCC (p.Asp246=) c.624_626delinsCCC (p.Asp208=) c.456_458delinsCCC (p.Asp152=) c.*130_*132delinsCCC (n.*130_*132delinsCCC) | |
1 | g.119033199dup | CA2839628859 | WARS2 | c.797dup (p.Ala267GlyfsTer?) c.*163dup (n.*163dup) c.743dup (p.Ala249GlyfsTer?) c.515dup (p.Ala173GlyfsTer?) c.728dup (p.Ala244GlyfsTer?) c.539dup (p.Ala181GlyfsTer?) c.740dup (p.Ala248GlyfsTer?) c.626dup (p.Ala210GlyfsTer?) c.458dup (p.Ala154GlyfsTer?) c.*132dup (n.*132dup) | |
1 | g.119033199del | CA1035219 | WARS2 | c.797del (p.Pro266ArgfsTer10) c.*163del (n.*163del) c.743del (p.Pro248ArgfsTer10) c.515del (p.Pro172ArgfsTer10) c.728del (p.Pro243ArgfsTer10) c.539del (p.Pro180ArgfsTer10) c.740del (p.Pro247ArgfsTer10) c.626del (p.Pro209ArgfsTer10) c.458del (p.Pro153ArgfsTer10) c.*132del (n.*132del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.119033198G>A | CA341436598 | WARS2 | c.796C>T (p.Pro266Ser) c.*162C>T (n.*162C>T) c.742C>T (p.Pro248Ser) c.514C>T (p.Pro172Ser) c.727C>T (p.Pro243Ser) c.538C>T (p.Pro180Ser) c.739C>T (p.Pro247Ser) c.625C>T (p.Pro209Ser) c.457C>T (p.Pro153Ser) c.*131C>T (n.*131C>T) | |
1 | g.119033198G>C | CA341436599 | WARS2 | c.796C>G (p.Pro266Ala) c.*162C>G (n.*162C>G) c.742C>G (p.Pro248Ala) c.514C>G (p.Pro172Ala) c.727C>G (p.Pro243Ala) c.538C>G (p.Pro180Ala) c.739C>G (p.Pro247Ala) c.625C>G (p.Pro209Ala) c.457C>G (p.Pro153Ala) c.*131C>G (n.*131C>G) | |
1 | g.119033198G>T | CA341436597 | WARS2 | c.796C>A (p.Pro266Thr) c.*162C>A (n.*162C>A) c.742C>A (p.Pro248Thr) c.514C>A (p.Pro172Thr) c.727C>A (p.Pro243Thr) c.538C>A (p.Pro180Thr) c.739C>A (p.Pro247Thr) c.625C>A (p.Pro209Thr) c.457C>A (p.Pro153Thr) c.*131C>A (n.*131C>A) | |
1 | g.119033199G>A | CA420192667 | WARS2 | c.795C>T (p.Asp265=) c.*161C>T (n.*161C>T) c.741C>T (p.Asp247=) c.513C>T (p.Asp171=) c.726C>T (p.Asp242=) c.537C>T (p.Asp179=) c.738C>T (p.Asp246=) c.624C>T (p.Asp208=) c.456C>T (p.Asp152=) c.*130C>T (n.*130C>T) | |
1 | g.119033199G>C | CA341436600 | WARS2 | c.795C>G (p.Asp265Glu) c.*161C>G (n.*161C>G) c.741C>G (p.Asp247Glu) c.513C>G (p.Asp171Glu) c.726C>G (p.Asp242Glu) c.537C>G (p.Asp179Glu) c.738C>G (p.Asp246Glu) c.624C>G (p.Asp208Glu) c.456C>G (p.Asp152Glu) c.*130C>G (n.*130C>G) | |
1 | g.119033199G>T | CA341436601 | WARS2 | c.795C>A (p.Asp265Glu) c.*161C>A (n.*161C>A) c.741C>A (p.Asp247Glu) c.513C>A (p.Asp171Glu) c.726C>A (p.Asp242Glu) c.537C>A (p.Asp179Glu) c.738C>A (p.Asp246Glu) c.624C>A (p.Asp208Glu) c.456C>A (p.Asp152Glu) c.*130C>A (n.*130C>A) | COSMIC |
1 | g.119033200T>A | CA1035222 | WARS2 | c.794A>T (p.Asp265Val) c.*160A>T (n.*160A>T) c.740A>T (p.Asp247Val) c.512A>T (p.Asp171Val) c.725A>T (p.Asp242Val) c.536A>T (p.Asp179Val) c.737A>T (p.Asp246Val) c.623A>T (p.Asp208Val) c.455A>T (p.Asp152Val) c.*129A>T (n.*129A>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.119033200T>C | CA341436602 | WARS2 | c.794A>G (p.Asp265Gly) c.*160A>G (n.*160A>G) c.740A>G (p.Asp247Gly) c.512A>G (p.Asp171Gly) c.725A>G (p.Asp242Gly) c.536A>G (p.Asp179Gly) c.737A>G (p.Asp246Gly) c.623A>G (p.Asp208Gly) c.455A>G (p.Asp152Gly) c.*129A>G (n.*129A>G) | |
1 | g.119033200T>G | CA341436603 | WARS2 | c.794A>C (p.Asp265Ala) c.*160A>C (n.*160A>C) c.740A>C (p.Asp247Ala) c.512A>C (p.Asp171Ala) c.725A>C (p.Asp242Ala) c.536A>C (p.Asp179Ala) c.737A>C (p.Asp246Ala) c.623A>C (p.Asp208Ala) c.455A>C (p.Asp152Ala) c.*129A>C (n.*129A>C) | |
1 | g.119033200T= | CA1192128199 | WARS2 | c.794A= (p.Asp265=) c.*160A= (n.*160A=) c.740A= (p.Asp247=) c.512A= (p.Asp171=) c.725A= (p.Asp242=) c.536A= (p.Asp179=) c.737A= (p.Asp246=) c.623A= (p.Asp208=) c.455A= (p.Asp152=) c.*129A= (n.*129A=) | |
1 | g.119033201C>A | CA341436604 | WARS2 | c.793G>T (p.Asp265Tyr) c.*159G>T (n.*159G>T) c.739G>T (p.Asp247Tyr) c.511G>T (p.Asp171Tyr) c.724G>T (p.Asp242Tyr) c.535G>T (p.Asp179Tyr) c.736G>T (p.Asp246Tyr) c.622G>T (p.Asp208Tyr) c.454G>T (p.Asp152Tyr) c.*128G>T (n.*128G>T) | |
1 | g.119033201C>G | CA341436605 | WARS2 | c.793G>C (p.Asp265His) c.*159G>C (n.*159G>C) c.739G>C (p.Asp247His) c.511G>C (p.Asp171His) c.724G>C (p.Asp242His) c.535G>C (p.Asp179His) c.736G>C (p.Asp246His) c.622G>C (p.Asp208His) c.454G>C (p.Asp152His) c.*128G>C (n.*128G>C) | |
1 | g.119033201C>T | CA341436606 | WARS2 | c.793G>A (p.Asp265Asn) c.*159G>A (n.*159G>A) c.739G>A (p.Asp247Asn) c.511G>A (p.Asp171Asn) c.724G>A (p.Asp242Asn) c.535G>A (p.Asp179Asn) c.736G>A (p.Asp246Asn) c.622G>A (p.Asp208Asn) c.454G>A (p.Asp152Asn) c.*128G>A (n.*128G>A) | |
1 | g.119033202A>C | CA341436607 | WARS2 | c.792T>G (p.Tyr264Ter) c.*158T>G (n.*158T>G) c.738T>G (p.Tyr246Ter) c.510T>G (p.Tyr170Ter) c.723T>G (p.Tyr241Ter) c.534T>G (p.Tyr178Ter) c.735T>G (p.Tyr245Ter) c.621T>G (p.Tyr207Ter) c.453T>G (p.Tyr151Ter) c.*127T>G (n.*127T>G) | |
1 | g.119033202A>G | CA420192672 | WARS2 | c.792T>C (p.Tyr264=) c.*158T>C (n.*158T>C) c.738T>C (p.Tyr246=) c.510T>C (p.Tyr170=) c.723T>C (p.Tyr241=) c.534T>C (p.Tyr178=) c.735T>C (p.Tyr245=) c.621T>C (p.Tyr207=) c.453T>C (p.Tyr151=) c.*127T>C (n.*127T>C) | |
1 | g.119033202A>T | CA341436608 | WARS2 | c.792T>A (p.Tyr264Ter) c.*158T>A (n.*158T>A) c.738T>A (p.Tyr246Ter) c.510T>A (p.Tyr170Ter) c.723T>A (p.Tyr241Ter) c.534T>A (p.Tyr178Ter) c.735T>A (p.Tyr245Ter) c.621T>A (p.Tyr207Ter) c.453T>A (p.Tyr151Ter) c.*127T>A (n.*127T>A) | |
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=) |