Transcript #00000657

Transcript name transcript variant 1
Gene name CPS1 (carbamoyl-phosphate synthase 1, mitochondrial)
Chromosome 2
Transcript - NCBI ID NM_001122633.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_001116105.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

210 entries on 3 pages. Showing entries 1 - 100.
Legend   « First ‹ Prev     1 2 3     Next › Last »

Affects function     

Location     

Exon     

AscendingDNA change (cDNA)     

Protein     

PolyPhen     

GVS function     

Splice distance     

SIFT     
./. - - c.2T>G p.? - - - -
./. - - c.3+12G>A p.(=) - - - -
./. - - c.4-113G>A p.(=) - - - -
./. - - c.4-61A>G p.(=) - - - -
./. - - c.4-14T>G p.(=) - - - -
./. - - c.13_14insTCT p.(Ile5_Lys6insPhe) - - - -
./. - - c.16delinsTTCC p.(Lys6delinsPheGln) - - - -
./. - - c.21G>T p.(Met7Ile) - - - -
./. - - c.23C>T p.(Thr8Met) - - - -
./. - - c.43A>T p.(Lys15*) - - - -
./. - - c.144+1G>A p.? - - - -
./. - - c.148C>T p.(Gln50*) - - - -
+/+ - 3/5 c.148C>T p.? - stop_gained - -
./. - - c.185T>G p.(Met62Arg) - - - -
./. - - c.204C>T p.(=) - - - -
./. - - c.213C>T p.(=) - - - -
./. - - c.226_227insAAGTGGTT p.(Phe79Lysfs*80) - - - -
./. - - c.254+1G>T p.? - - - -
./. - - c.254+5G>A p.? - - - -
./. - - c.277C>T p.(Pro93Ser) - - - -
./. - - c.313C>A p.(Pro105Thr) - - - -
./. - - c.319del p.(Ile107Leufs*49) - - - -
./. - - c.320_321insTGGGAA p.(Asn109_Gly110dup) - - - -
./. - - c.321T>G p.(Ile107Met) - - - -
./. - - c.467G>A p.(Gly156Glu) - - - -
./. - - c.504T>C p.(=) - - - -
./. - - c.505G>T p.(Gly169*) - - - -
./. - - c.538C>T p.(Arg180Trp) - - - -
./. - - c.546G>A p.(=) - - - -
./. - - c.546+9A>G p.(=) - - - -
./. - - c.547-4A>T p.? - - - -
./. - - c.604A>G p.(Asn202Asp) - - - -
./. - - c.611_612del p.(Asn205Phefs*4) - - - -
./. - - c.655G>A p.(Gly219Ser) - - - -
./. - - c.715C>T p.(Arg239Cys) - - - -
./. - - c.729+1G>C p.? - - - -
./. - - c.730C>T p.(Arg244*) - - - -
./. - - c.731G>A p.(Arg244Gln) - - - -
./. - - c.748del p.(Leu250*) - - - -
./. - - c.781G>T p.(Glu261*) - - - -
./. - - c.801C>T p.(=) - - - -
./. - - c.813del p.(Asn273Thrfs*8) - - - -
./. - - c.856_857insAGGTGC p.? - - - -
./. - - c.920G>A p.(Gly307Glu) - - - -
./. - - c.955A>G p.(Met319Val) - - - -
./. - - c.963C>G p.(Asn321Lys) - - - -
./. - - c.966-6C>T p.(=) - - - -
+/+ - 11/39 c.1028A>G p.? probably_damaging(0.999) missense_variant - deleterious(0)
./. - - c.1028A>G p.(His343Arg) - - - -
./. - - c.1039T>G p.(Leu347Val) - - - -
./. - - c.1043_1045del p.(Asn349del) - - - -
./. - - c.1048A>G p.(Thr350Ala) - - - -
./. - - c.1048A>T p.(Thr350Ser) - - - -
./. - - c.1050C>T p.(=) - - - -
./. - - c.1081A>G p.(Asn361Asp) - - - -
./. - - c.1086C>G p.(=) - - - -
./. - - c.1104+1G>A p.? - - - -
./. - - c.1105-7C>T p.(=) - - - -
./. - - c.1163C>T p.(Pro388Leu) - - - -
./. - - c.1183-5T>C p.? - - - -
./. - - c.1205C>A p.(Ser402*) - - - -
./. - - c.1219G>C p.(Gly407Arg) - - - -
./. - - c.1281+5G>C p.? - - - -
./. - - c.1325G>A p.(Gly442Asp) - - - -
./. - - c.1330G>A p.(Ala444Thr) - - - -
./. - - c.1330G>C p.(Ala444Pro) - - - -
./. - - c.1338_1339insT p.(Asp448*) - - - -
./. - - c.1373T>C p.(Met458Thr) - - - -
./. - - c.1377+7G>A p.(=) - - - -
./. - - c.1429_1430insC p.(Asn478Glnfs*2) - - - -
./. - - c.1455G>A p.(=) - - - -
./. - - c.1496C>T p.(Thr499Ile) - - - -
./. - - c.1546del p.(Gly516Alafs*5) - - - -
./. - - c.1587A>G p.(=) - - - -
./. - - c.1645G>A p.(Ala549Thr) - - - -
./. - - c.1649C>T p.(Thr550Met) - - - -
+/+ - 16/39 c.1649C>T p.? possibly_damaging(0.755) missense_variant - deleterious(0)
./. - - c.1666T>C p.(Phe556Leu) - - - -
./. - - c.1778G>A p.(Arg593His) - - - -
./. - - c.1792_1793insT p.(Gly600Trpfs*42) - - - -
./. - - c.1855-8A>G p.(=) - - - -
./. - - c.1882G>A p.(Val628Met) - - - -
./. - - c.1913T>G p.(Ile638Arg) - - - -
./. - - c.1930C>T p.(Arg644*) - - - -
?/? - 18/39 c.1936G>T p.? benign(0.007) missense_variant - tolerated(0.14)
./. - - c.1944del p.(Asp648Glufs*39) - - - -
./. - - c.2000-8A>T p.(=) - - - -
./. - - c.2000-1G>C p.? - - - -
./. - - c.2166T>A p.(Asn722Lys) - - - -
./. - - c.2179C>T p.(Arg727*) - - - -
./. - - c.2210+6A>T p.(=) - - - -
./. - - c.2211-15G>T p.(=) - - - -
./. - - c.2211-1G>T p.? - - - -
./. - - c.2243del p.(Leu749*) - - - -
./. - - c.2283C>A p.(=) - - - -
./. - - c.2283C>T p.(=) - - - -
+/+ - 20/39 c.2377C>T p.? - stop_gained - -
./. - - c.2377C>T p.(Arg793*) - - - -
./. - - c.2394G>C p.(Met798Ile) - - - -
./. - - c.2409+1G>A p.? - - - -
Legend   « First ‹ Prev     1 2 3     Next › Last »