1 
OTC 
P00480 
p.Met1Ile 
rs72552296 
variant of unknown significance 


Detail 
0.37 (T) 
0.473 (N)  N 
2 
OTC 
P00480 
p.Met1Leu 
rs67752076 
variant of unknown significance 


Detail 
() 
()  N 
3 
OTC 
P00480 
p.Met1Val 
rs67752076 
variant of unknown significance 


Detail 
0.39 (T) 
0.473 (N)  N 
4 
OTC 
P00480 
p.Met1Thr 
rs72552295 
variant of unknown significance 


Detail 
0.26 (T) 
0.718 (D)  N 
5 
OTC 
P00480 
p.Arg23Gln 
rs148660170 
variant of unknown significance 


Detail 
0.60 (T) 
0.069 (N)  N 
6 
OTC 
P00480 
p.Arg26Gln 
rs68031618 
Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] 


Detail 
0.62 (T) 
0 (N)  N 
7 
OTC 
P00480 
p.Arg26Pro 
rs68031618 
variant of unknown significance 


Detail 
0.30 (T) 
0.015 (N)  N 
8 
OTC 
P00480 
p.Gly39Cys 
rs72554306 
Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] 
1oth 
A 
Detail 
0.12 (T) 
1 (D)  N 
9 
OTC 
P00480 
p.Arg40His 
rs72554308 
Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] 
1oth 
A 
Detail 
0.04 (D) 
1 (D)  D ( Predicted by rules : 1 ) 
3 
OTC 
P00480 
p.Arg40Cys 
rs72554307 
Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] 
1oth 
A 
Detail 
0.00 (D) 
1 (D)  D ( Predicted by rules : 1 ) 
3 
OTC 
P00480 
p.Asp41Gly 
rs74518351 
variant of unknown significance 
1oth 
A 
Detail 
0.38 (T) 
0.112 (N)  D ( Predicted by rules : 1 ) 
3 
OTC 
P00480 
p.Leu43Phe 
rs72554309 
variant of unknown significance 
1oth 
A 
Detail 
0.01 (D) 
1 (D)  N 
4 
OTC 
P00480 
p.Thr44Ile 
rs72554310 
Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] 
1oth 
A 
Detail 
0.04 (D) 
1 (D)  D ( Predicted by rules : 1 2 ) 
4 
OTC 
P00480 
p.Leu45Pro 
rs72554312 
Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] 
1oth 
A 
Detail 
0.00 (D) 
1 (D)  D ( Predicted by rules : 1 2 3 ) 
5 
OTC 
P00480 
p.Leu45Val 
rs72554311 
Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] 
1oth 
A 
Detail 
0.03 (D) 
0.99 (D)  D ( Predicted by rules : 1 ) 
3 
OTC 
P00480 
p.Lys46Arg 
rs1800321 
variant of unknown significance 
1oth 
A 
Detail 
0.51 (T) 
0.209 (N)  N 
4 
OTC 
P00480 
p.Asn47Ile 
rs67939655 
Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] 
1oth 
A 
Detail 
0.00 (D) 
0.962 (D)  D ( Predicted by rules : 1 ) 
3 
OTC 
P00480 
p.Asn47Thr 
rs67939655 
variant of unknown significance 
1oth 
A 
Detail 
0.01 (D) 
0.189 (N)  N 
4 
OTC 
P00480 
p.Phe48Ser 
rs72554315 
variant of unknown significance 
1oth 
A 
Detail 
0.11 (T) 
0.995 (D)  N 
5 
OTC 
P00480 
p.Thr49Pro 
rs72554316 
variant of unknown significance 
1oth 
A 
Detail 
0.16 (T) 
0.754 (D)  N 
6 
OTC 
P00480 
p.Gly50Arg 
rs67486158 
Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] 
1oth 
A 
Detail 
0.61 (T) 
0.906 (D)  D ( Predicted by rules : 1 2 3 ) 
5 
OTC 
P00480 
p.Gly50Ter 
rs67486158 
variant of unknown significance 


Detail 
() 
()  N 
6 
OTC 
P00480 
p.Glu52Asp 
rs72554318 
variant of unknown significance 
1oth 
A 
Detail 
0.17 (T) 
0.999 (D)  D ( Predicted by rules : 1 ) 
3 
OTC 
P00480 
p.Glu52Gly 
rs72554317 
variant of unknown significance 
1oth 
A 
Detail 
0.00 (D) 
1 (D)  D ( Predicted by rules : 1 ) 
3 
OTC 
P00480 
p.Glu52Lys 
rs66521141 
variant of unknown significance 
1oth 
A 
Detail 
0.01 (D) 
1 (D)  D ( Predicted by rules : 1 ) 
3 
OTC 
P00480 
p.Glu52Ter 
rs66521141 
variant of unknown significance 


Detail 
() 
()  N 
4 
OTC 
P00480 
p.Ile53Thr 
rs66677059 
variant of unknown significance 
1oth 
A 
Detail 
0.04 (D) 
0.998 (D)  N 
5 
OTC 
P00480 
p.Ile53Ser 
rs66677059 
variant of unknown significance 
1oth 
A 
Detail 
() 
()  N 
6 
OTC 
P00480 
p.Tyr55Asp 
rs72554319 
Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] 
1oth 
A 
Detail 
0.23 (T) 
0.945 (D)  D ( Predicted by rules : 1 ) 
3 
OTC 
P00480 
p.Met56Thr 
rs72554320 
Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] 
1oth 
A 
Detail 
0.00 (D) 
0.037 (N)  N 
4 
OTC 
P00480 
p.Leu57Gln 
rs72554321 
variant of unknown significance 
1oth 
A 
Detail 
0.00 (D) 
1 (D)  N 
5 
OTC 
P00480 
p.Ser60Leu 
rs72554323 
Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] 
1oth 
A 
Detail 
0.00 (D) 
0.999 (D)  D ( Predicted by rules : 1 2 ) 
4 
OTC 
P00480 
p.Leu63Pro 
rs72554324 
Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] 
1oth 
A 
Detail 
0.02 (D) 
1 (D)  D ( Predicted by rules : 1 2 3 ) 
5 
OTC 
P00480 
p.Ile67Arg 
rs72554325 
variant of unknown significance 
1oth 
A 
Detail 
0.35 (T) 
1 (D)  D ( Predicted by rules : 1 ) 
3 
OTC 
P00480 
p.Leu76Ser 
rs72554328 
variant of unknown significance 
1oth 
A 
Detail 
0.43 (T) 
0.976 (D)  D ( Predicted by rules : 1 ) 
3 
OTC 
P00480 
p.Leu77Phe 
rs72554329 
variant of unknown significance 
1oth 
A 
Detail 
0.08 (T) 
0.998 (D)  D ( Predicted by rules : 1 ) 
3 
OTC 
P00480 
p.Gly79Glu 
rs72554331 
Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] 
1oth 
A 
Detail 
0.01 (D) 
1 (D)  D ( Predicted by rules : 1 ) 
3 
OTC 
P00480 
p.Lys80Asn 
rs72554333 
variant of unknown significance 
1oth 
A 
Detail 
0.00 (D) 
1 (D)  D ( Predicted by rules : 1 ) 
3 
OTC 
P00480 
p.Lys80Glu 
rs72554332 
variant of unknown significance 
1oth 
A 
Detail 
0.00 (D) 
0.977 (D)  D ( Predicted by rules : 1 ) 
3 
OTC 
P00480 
p.Gly83Asp 
rs72554337 
Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] 
1oth 
A 
Detail 
0.00 (D) 
0.927 (D)  D ( Predicted by rules : 1 2 3 ) 
5 
OTC 
P00480 
p.Gly83Arg 
rs72554336 
Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] 
1oth 
A 
Detail 
0.00 (D) 
0.999 (D)  D ( Predicted by rules : 1 2 3 4 5 ) 
7 
OTC 
P00480 
p.Glu87Lys 
rs72554338 
Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] 
1oth 
A 
Detail 
0.25 (T) 
0.978 (D)  D ( Predicted by rules : 1 ) 
3 
OTC 
P00480 
p.Lys88Asn 
rs72554339 
Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] 
1oth 
A 
Detail 
0.00 (D) 
1 (D)  D ( Predicted by rules : 1 2 3 ) 
5 
OTC 
P00480 
p.Ser90Asn 
rs72554341 
variant of unknown significance 
1oth 
A 
Detail 
0.00 (D) 
1 (D)  D ( Predicted by rules : 1 2 3 4 5 ) 
7 
OTC 
P00480 
p.Ser90Gly 
rs72554340 
variant of unknown significance 
1oth 
A 
Detail 
0.00 (D) 
1 (D)  D ( Predicted by rules : 1 2 ) 
4 
OTC 
P00480 
p.Ser90Arg 
rs72554342 
Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] 
1oth 
A 
Detail 
0.00 (D) 
1 (D)  D ( Predicted by rules : 1 2 3 4 ) 
6 
OTC 
P00480 
p.Arg92Gly 
rs67418243 
variant of unknown significance 
1oth 
A 
Detail 
0.00 (D) 
1 (D)  D ( Predicted by rules : 1 2 3 4 ) 
6 
OTC 
P00480 
p.Arg92Gln 
rs66550389 
Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] 
1oth 
A 
Detail 
0.00 (D) 
1 (D)  D ( Predicted by rules : 1 2 3 4 5 ) 
7 
OTC 
P00480 
p.Arg92Ter 
rs67418243 
variant of unknown significance 


Detail 
() 
()  N 
8 
OTC 
P00480 
p.Arg92Leu 
rs66550389 
variant of unknown significance 
1oth 
A 
Detail 
0.00 (D) 
1 (D)  D ( Predicted by rules : 1 2 3 4 5 ) 
7 
OTC 
P00480 
p.Arg92Pro 
rs66550389 
variant of unknown significance 
1oth 
A 
Detail 
() 
()  D ( Predicted by rules : 1 2 3 ) 
5 
OTC 
P00480 
p.Thr93Ala 
rs72554344 
Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] 
1oth 
A 
Detail 
0.00 (D) 
0.999 (D)  D ( Predicted by rules : 1 2 ) 
4 
OTC 
P00480 
p.Arg94Thr 
rs72554345 
Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] 
1oth 
A 
Detail 
0.00 (D) 
1 (D)  D ( Predicted by rules : 1 2 ) 
4 
OTC 
P00480 
p.Leu95Ser 
rs72554346 
variant of unknown significance 
1oth 
A 
Detail 
0.00 (D) 
0.974 (D)  D ( Predicted by rules : 1 ) 
3 
OTC 
P00480 
p.Ser96Pro 
rs184053962 
variant of unknown significance 
1oth 
A 
Detail 
() 
()  D ( Predicted by rules : 1 2 3 ) 
5 
OTC 
P00480 
p.Glu98Lys 
rs72554347 
variant of unknown significance 
1oth 
A 
Detail 
0.01 (D) 
1 (D)  D ( Predicted by rules : 1 2 ) 
4 
OTC 
P00480 
p.Gly100Asp 
rs72554349 
Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] 
1oth 
A 
Detail 
0.00 (D) 
1 (D)  D ( Predicted by rules : 1 2 3 4 ) 
6 
OTC 
P00480 
p.Phe101Leu 
 
variant of unknown significance 
1oth 
A 
Detail 
0.42 (T) 
0.09 (N)  D ( Predicted by rules : 1 2 ) 
4 
OTC 
P00480 
p.Ala102Glu 
rs72554350 
Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] 
1oth 
A 
Detail 
0.27 (T) 
0.991 (D)  D ( Predicted by rules : 1 ) 
3 
OTC 
P00480 
p.Gly105Val 
rs72554351 
variant of unknown significance 
1oth 
A 
Detail 
0.00 (D) 
1 (D)  D ( Predicted by rules : 1 2 ) 
4 
OTC 
P00480 
p.Gly106Arg 
rs72554352 
variant of unknown significance 
1oth 
A 
Detail 
0.00 (D) 
1 (D)  D ( Predicted by rules : 1 2 3 4 5 6 7 8 ) 
10 
OTC 
P00480 
p.Gly106Val 
rs67651903 
variant of unknown significance 
1oth 
A 
Detail 
0.01 (D) 
1 (D)  D ( Predicted by rules : 1 2 3 4 ) 
6 
OTC 
P00480 
p.Gly106Glu 
rs67651903 
variant of unknown significance 
1oth 
A 
Detail 
() 
()  D ( Predicted by rules : 1 2 3 4 5 6 7 ) 
9 
OTC 
P00480 
p.Leu111Pro 
rs1800324 
variant of unknown significance 
1oth 
A 
Detail 
0.00 (D) 
1 (D)  D ( Predicted by rules : 1 2 ) 
4 
OTC 
P00480 
p.His117Leu 
rs66539573 
Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] 
1oth 
A 
Detail 
0.01 (D) 
0.997 (D)  D ( Predicted by rules : 1 ) 
3 
OTC 
P00480 
p.His117Arg 
rs66539573 
Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] 
1oth 
A 
Detail 
0.03 (D) 
0.994 (D)  D ( Predicted by rules : 1 2 3 ) 
5 
OTC 
P00480 
p.Thr125Met 
rs72554356 
Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] 
1oth 
A 
Detail 
0.21 (T) 
0.992 (D)  D ( Predicted by rules : 1 ) 
3 
OTC 
P00480 
p.Asp126Gly 
rs72554358 
Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] 
1oth 
A 
Detail 
0.00 (D) 
1 (D)  D ( Predicted by rules : 1 2 ) 
4 
OTC 
P00480 
p.Arg129His 
rs66656800 
Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] 
1oth 
A 
Detail 
0.03 (D) 
0.973 (D)  D ( Predicted by rules : 1 2 3 ) 
5 
OTC 
P00480 
p.Arg129Pro 
rs66656800 
variant of unknown significance 
1oth 
A 
Detail 
0.02 (D) 
0.992 (D)  D ( Predicted by rules : 1 2 3 ) 
5 
OTC 
P00480 
p.Arg129Leu 
rs66656800 
variant of unknown significance 
1oth 
A 
Detail 
0.07 (T) 
0.125 (N)  D ( Predicted by rules : 1 2 ) 
4 
OTC 
P00480 
p.Arg129Cys 
rs140046498 
variant of unknown significance 
1oth 
A 
Detail 
0.00 (D) 
0.998 (D)  D ( Predicted by rules : 1 2 3 ) 
5 
OTC 
P00480 
p.Leu131Ser 
rs72556252 
variant of unknown significance 
1oth 
A 
Detail 
0.00 (D) 
1 (D)  D ( Predicted by rules : 1 2 3 ) 
5 
OTC 
P00480 
p.Ser132Phe 
rs72556254 
variant of unknown significance 
1oth 
A 
Detail 
0.00 (D) 
1 (D)  D ( Predicted by rules : 1 2 3 4 ) 
6 
OTC 
P00480 
p.Ser132Pro 
rs72556253 
variant of unknown significance 
1oth 
A 
Detail 
0.01 (D) 
1 (D)  D ( Predicted by rules : 1 2 3 4 ) 
6 
OTC 
P00480 
p.Ala135Glu 
rs72556256 
variant of unknown significance 
1oth 
A 
Detail 
0.21 (T) 
0.06 (N)  D ( Predicted by rules : 1 2 3 4 ) 
6 
OTC 
P00480 
p.Asp136Val 
rs72556257 
variant of unknown significance 
1oth 
A 
Detail 
0.00 (D) 
0.974 (D)  D ( Predicted by rules : 1 2 ) 
4 
OTC 
P00480 
p.Ala137Thr 
rs72556258 
variant of unknown significance 
1oth 
A 
Detail 
0.12 (T) 
0.824 (D)  D ( Predicted by rules : 1 ) 
3 
OTC 
P00480 
p.Leu139Ser 
rs72556259 
Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] 
1oth 
A 
Detail 
0.01 (D) 
1 (D)  D ( Predicted by rules : 1 2 ) 
4 
OTC 
P00480 
p.Ala140Pro 
rs72556260 
Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] 
1oth 
A 
Detail 
0.06 (T) 
1 (D)  D ( Predicted by rules : 1 2 3 ) 
5 
OTC 
P00480 
p.Arg141Gly 
rs67960011 
variant of unknown significance 
1oth 
A 
Detail 
0.00 (D) 
1 (D)  D ( Predicted by rules : 1 2 3 4 5 ) 
7 
OTC 
P00480 
p.Arg141Ter 
rs67960011 
ORNITHINE TRANSCARBAMYLASE DEFICIENCY [MIM:300461#0003] 


Detail 
() 
()  N 
8 
OTC 
P00480 
p.Arg141Pro 
rs68026851 
Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] 
1oth 
A 
Detail 
0.00 (D) 
1 (D)  D ( Predicted by rules : 1 2 3 4 ) 
6 
OTC 
P00480 
p.Arg141Gln 
rs68026851 
Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] 
1oth 
A 
Detail 
0.00 (D) 
1 (D)  D ( Predicted by rules : 1 2 3 4 5 ) 
7 
OTC 
P00480 
p.Val142Glu 
rs72556261 
variant of unknown significance 
1oth 
A 
Detail 
0.00 (D) 
1 (D)  D ( Predicted by rules : 1 2 3 4 ) 
6 
OTC 
P00480 
p.Leu148Ser 
rs67016166 
variant of unknown significance 
1oth 
A 
Detail 
0.00 (D) 
1 (D)  D ( Predicted by rules : 1 ) 
3 
OTC 
P00480 
p.Leu148Trp 
rs67016166 
variant of unknown significance 
1oth 
A 
Detail 
() 
()  D ( Predicted by rules : 1 2 3 ) 
5 
OTC 
P00480 
p.Leu148Phe 
rs66741318 
Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] 
1oth 
A 
Detail 
0.02 (D) 
0.999 (D)  D ( Predicted by rules : 1 2 ) 
4 
OTC 
P00480 
p.Leu151Arg 
rs72556265 
variant of unknown significance 
1oth 
A 
Detail 
0.00 (D) 
1 (D)  D ( Predicted by rules : 1 2 3 4 5 ) 
7 
OTC 
P00480 
p.Ala152Val 
rs72556266 
variant of unknown significance 
1oth 
A 
Detail 
0.04 (D) 
0.183 (N)  D ( Predicted by rules : 1 ) 
3 
OTC 
P00480 
p.Ala155Ser 
rs67890094 
variant of unknown significance 
1oth 
A 
Detail 
() 
()  D ( Predicted by rules : 1 2 3 4 5 6 ) 
8 
OTC 
P00480 
p.Ala155Pro 
rs67890094 
variant of unknown significance 
1oth 
A 
Detail 
0.01 (D) 
0.997 (D)  D ( Predicted by rules : 1 2 3 4 5 6 7 8 ) 
10 
OTC 
P00480 
p.Ala155Glu 
rs72556268 
variant of unknown significance 
1oth 
A 
Detail 
0.00 (D) 
0.999 (D)  D ( Predicted by rules : 1 2 3 4 5 6 7 ) 
9 
OTC 
P00480 
p.Ile159Thr 
rs72556269 
Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] 
1oth 
A 
Detail 
0.00 (D) 
0.985 (D)  D ( Predicted by rules : 1 2 ) 
4 
OTC 
P00480 
p.Ile160Asn 
rs67954347 
variant of unknown significance 
1oth 
A 
Detail 
() 
()  D ( Predicted by rules : 1 2 3 4 ) 
6 
OTC 
P00480 
p.Ile160Ser 
rs67954347 
Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] 
1oth 
A 
Detail 
0.00 (D) 
0.953 (D)  D ( Predicted by rules : 1 2 3 4 ) 
6 
OTC 
P00480 
p.Ile160Thr 
rs67954347 
variant of unknown significance 
1oth 
A 
Detail 
0.00 (D) 
0.537 (D)  D ( Predicted by rules : 1 2 3 4 5 ) 
7 
OTC 
P00480 
p.Asn161Ser 
rs72556271 
Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] 
1oth 
A 
Detail 
0.04 (D) 
0.932 (D)  D ( Predicted by rules : 1 2 ) 
4 
OTC 
P00480 
p.Asn161Lys 
rs72558497 
variant of unknown significance 
1oth 
A 
Detail 
0.00 (D) 
1 (D)  D ( Predicted by rules : 1 2 3 ) 
5 
OTC 
P00480 
p.Asn161Asp 
rs72556270 
variant of unknown significance 
1oth 
A 
Detail 
0.01 (D) 
0.999 (D)  D ( Predicted by rules : 1 2 ) 
4 
OTC 
P00480 
p.Gly162Arg 
rs66626662 
Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] 
1oth 
A 
Detail 
0.00 (D) 
1 (D)  D ( Predicted by rules : 1 2 3 4 5 ) 
7 
OTC 
P00480 
p.Gly162Glu 
rs72556272 
variant of unknown significance 
1oth 
A 
Detail 
0.00 (D) 
1 (D)  D ( Predicted by rules : 1 2 3 4 ) 
6 
OTC 
P00480 
p.Ser164Pro 
rs72556273 
variant of unknown significance 
1oth 
A 
Detail 
0.01 (D) 
1 (D)  D ( Predicted by rules : 1 2 ) 
4 
OTC 
P00480 
p.Asp165Tyr 
rs72556275 
variant of unknown significance 
1oth 
A 
Detail 
0.00 (D) 
1 (D)  D ( Predicted by rules : 1 2 3 ) 
5 
OTC 
P00480 
p.His168Pro 
rs66867430 
variant of unknown significance 
1oth 
A 
Detail 
() 
()  D ( Predicted by rules : 1 2 3 4 5 6 7 8 ) 
10 
OTC 
P00480 
p.His168Gln 
rs72556276 
Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] 
1oth 
A 
Detail 
0.00 (D) 
1 (D)  D ( Predicted by rules : 1 2 3 4 5 6 ) 
8 
OTC 
P00480 
p.His168Arg 
rs66867430 
Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] 
1oth 
A 
Detail 
0.00 (D) 
1 (D)  
11 
OTC 
P00480 
p.Pro169Ala 
rs72556277 
variant of unknown significance 
1oth 
A 
Detail 
0.00 (D) 
1 (D)  D ( Predicted by rules : 1 2 3 ) 
5 
OTC 
P00480 
p.Pro169Leu 
rs72556278 
variant of unknown significance 
1oth 
A 
Detail 
0.00 (D) 
1 (D)  D ( Predicted by rules : 1 2 3 4 5 6 7 ) 
9 
OTC 
P00480 
p.Ile172Met 
rs72556280 
Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] 
1oth 
A 
Detail 
0.02 (D) 
0.989 (D)  D ( Predicted by rules : 1 2 ) 
4 
OTC 
P00480 
p.Ile172Phe 
rs72556279 
Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] 
1oth 
A 
Detail 
0.01 (D) 
0.999 (D)  D ( Predicted by rules : 1 2 ) 
4 
OTC 
P00480 
p.Ala174Pro 
rs72556281 
Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] 
1oth 
A 
Detail 
0.01 (D) 
1 (D)  D ( Predicted by rules : 1 2 3 ) 
5 
OTC 
P00480 
p.Asp175Gly 
rs68033093 
variant of unknown significance 
1oth 
A 
Detail 
() 
()  D ( Predicted by rules : 1 2 3 ) 
5 
OTC 
P00480 
p.Asp175Val 
rs68033093 
Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] 
1oth 
A 
Detail 
0.00 (D) 
1 (D)  D ( Predicted by rules : 1 2 3 4 5 ) 
7 
OTC 
P00480 
p.Tyr176Cys 
rs72556283 
Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] 
1oth 
A 
Detail 
0.02 (D) 
0.997 (D)  D ( Predicted by rules : 1 2 3 ) 
5 
OTC 
P00480 
p.Tyr176His 
rs72556282 
variant of unknown significance 
1oth 
A 
Detail 
0.03 (D) 
0.988 (D)  D ( Predicted by rules : 1 2 ) 
4 
OTC 
P00480 
p.Leu177Phe 
rs148961194 
variant of unknown significance 
1oth 
A 
Detail 
0.13 (T) 
0.999 (D)  D ( Predicted by rules : 1 ) 
3 
OTC 
P00480 
p.Thr178Met 
rs72556284 
Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] 
1oth 
A 
Detail 
0.00 (D) 
1 (D)  D ( Predicted by rules : 1 2 ) 
4 
OTC 
P00480 
p.Leu179Pro 
rs72556286 
variant of unknown significance 
1oth 
A 
Detail 
0.00 (D) 
1 (D)  D ( Predicted by rules : 1 2 3 ) 
5 
OTC 
P00480 
p.Gln180His 
 
Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] 
1oth 
A 
Detail 
0.48 (T) 
1 (D)  D ( Predicted by rules : 1 ) 
3 
OTC 
P00480 
p.Glu181Gly 
rs72556290 
Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] 
1oth 
A 
Detail 
0.00 (D) 
0.48 (N)  D ( Predicted by rules : 1 2 ) 
4 
OTC 
P00480 
p.His182Gln 
rs143746493 
variant of unknown significance 
1oth 
A 
Detail 
0.10 (T) 
0.938 (D)  D ( Predicted by rules : 1 2 ) 
4 
OTC 
P00480 
p.His182Leu 
rs72556291 
Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] 
1oth 
A 
Detail 
0.06 (T) 
0.998 (D)  D ( Predicted by rules : 1 ) 
3 
OTC 
P00480 
p.Tyr183Asp 
rs72556292 
Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] 
1oth 
A 
Detail 
0.16 (T) 
0.999 (D)  D ( Predicted by rules : 1 2 3 ) 
5 
OTC 
P00480 
p.Tyr183Cys 
rs72556293 
Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] 
1oth 
A 
Detail 
0.14 (T) 
1 (D)  D ( Predicted by rules : 1 2 3 4 ) 
6 
OTC 
P00480 
p.Gly188Arg 
rs72556294 
Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] 
1oth 
A 
Detail 
0.00 (D) 
1 (D)  D ( Predicted by rules : 1 2 3 4 ) 
6 
OTC 
P00480 
p.Gly188Val 
rs72556295 
Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] 
1oth 
A 
Detail 
0.00 (D) 
1 (D)  D ( Predicted by rules : 1 2 3 ) 
5 
OTC 
P00480 
p.Leu191Phe 
rs72556296 
Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] 
1oth 
A 
Detail 
0.13 (T) 
0.06 (N)  D ( Predicted by rules : 1 ) 
3 
OTC 
P00480 
p.Leu191Arg 
rs72556297 
variant of unknown significance 
1oth 
A 
Detail 
0.00 (D) 
0.993 (D)  D ( Predicted by rules : 1 2 ) 
4 
OTC 
P00480 
p.Ser192Arg 
rs72556298 
Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] 
1oth 
A 
Detail 
0.01 (D) 
0.997 (D)  D ( Predicted by rules : 1 ) 
3 
OTC 
P00480 
p.Trp193Gly 
rs67284661 
variant of unknown significance 
1oth 
A 
Detail 
() 
()  D ( Predicted by rules : 1 2 3 ) 
5 
OTC 
P00480 
p.Trp193Arg 
rs67284661 
variant of unknown significance 
1oth 
A 
Detail 
0.00 (D) 
1 (D)  D ( Predicted by rules : 1 2 ) 
4 
OTC 
P00480 
p.Gly195Arg 
rs67294955 
Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] 
1oth 
A 
Detail 
0.00 (D) 
1 (D)  D ( Predicted by rules : 1 2 3 4 ) 
6 
OTC 
P00480 
p.Asp196Val 
rs72556300 
Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] 
1oth 
A 
Detail 
0.00 (D) 
1 (D)  D ( Predicted by rules : 1 2 3 4 5 6 7 ) 
9 
OTC 
P00480 
p.Asp196Asn 
rs66642398 
variant of unknown significance 
1oth 
A 
Detail 
0.00 (D) 
1 (D)  D ( Predicted by rules : 1 2 3 4 5 ) 
7 
OTC 
P00480 
p.Asp196Tyr 
rs66642398 
Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] 
1oth 
A 
Detail 
0.00 (D) 
1 (D)  
11 
OTC 
P00480 
p.Gly197Arg 
rs72556301 
Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] 
1oth 
A 
Detail 
0.00 (D) 
1 (D)  D ( Predicted by rules : 1 2 3 4 5 6 7 8 ) 
10 
OTC 
P00480 
p.Gly197Glu 
rs72556302 
Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] 
1oth 
A 
Detail 
0.00 (D) 
1 (D)  D ( Predicted by rules : 1 2 3 4 5 6 7 ) 
9 
OTC 
P00480 
p.Asn198Ile 
rs72558403 
variant of unknown significance 
1oth 
A 
Detail 
0.00 (D) 
1 (D)  D ( Predicted by rules : 1 2 3 4 5 6 ) 
8 
OTC 
P00480 
p.Asn198Lys 
rs72558404 
Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] 
1oth 
A 
Detail 
0.00 (D) 
1 (D)  D ( Predicted by rules : 1 2 3 4 5 ) 
7 
OTC 
P00480 
p.Asn199Asp 
rs72558405 
variant of unknown significance 
1oth 
A 
Detail 
0.00 (D) 
1 (D)  D ( Predicted by rules : 1 2 ) 
4 
OTC 
P00480 
p.Asn199Ser 
rs72558406 
variant of unknown significance 
1oth 
A 
Detail 
0.00 (D) 
1 (D)  D ( Predicted by rules : 1 2 3 ) 
5 
OTC 
P00480 
p.Leu201Pro 
rs72558407 
Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] 
1oth 
A 
Detail 
0.06 (T) 
1 (D)  D ( Predicted by rules : 1 2 3 ) 
5 
OTC 
P00480 
p.His202Tyr 
rs72558408 
Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] 
1oth 
A 
Detail 
0.01 (D) 
0.994 (D)  D ( Predicted by rules : 1 ) 
3 
OTC 
P00480 
p.His202Pro 
rs72558409 
variant of unknown significance 
1oth 
A 
Detail 
0.01 (D) 
0.995 (D)  D ( Predicted by rules : 1 2 3 ) 
5 
OTC 
P00480 
p.Ser203Cys 
rs72558410 
Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] 
1oth 
A 
Detail 
0.00 (D) 
1 (D)  D ( Predicted by rules : 1 ) 
3 
OTC 
P00480 
p.Met205Val 
rs72558411 
variant of unknown significance 
1oth 
A 
Detail 
0.24 (T) 
0.654 (D)  D ( Predicted by rules : 1 2 3 ) 
5 
OTC 
P00480 
p.Met206Ile 
rs72558413 
Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] 
1oth 
A 
Detail 
0.71 (T) 
0.459 (N)  D ( Predicted by rules : 1 2 ) 
4 
OTC 
P00480 
p.Met206Arg 
rs72558412 
Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] 
1oth 
A 
Detail 
0.38 (T) 
0.999 (D)  D ( Predicted by rules : 1 2 3 ) 
5 
OTC 
P00480 
p.Ser207Arg 
rs72558415 
Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] 
1oth 
A 
Detail 
0.02 (D) 
0.999 (D)  D ( Predicted by rules : 1 2 ) 
4 
OTC 
P00480 
p.Ser207Asn 
rs72558414 
variant of unknown significance 
1oth 
A 
Detail 
0.03 (D) 
0.805 (D)  D ( Predicted by rules : 1 2 ) 
4 
OTC 
P00480 
p.Ala208Thr 
rs72558416 
Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] 
1oth 
A 
Detail 
0.02 (D) 
0.999 (D)  D ( Predicted by rules : 1 2 3 4 ) 
6 
OTC 
P00480 
p.Ala209Val 
rs72558417 
Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] 
1oth 
A 
Detail 
0.32 (T) 
0.995 (D)  D ( Predicted by rules : 1 2 3 ) 
5 
OTC 
P00480 
p.Lys210Gln 
rs72558418 
variant of unknown significance 
1oth 
A 
Detail 
0.11 (T) 
0.73 (D)  D ( Predicted by rules : 1 ) 
3 
OTC 
P00480 
p.Met213Lys 
 
Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] 
1oth 
A 
Detail 
0.01 (D) 
0.999 (D)  D ( Predicted by rules : 1 2 3 4 5 6 ) 
8 
OTC 
P00480 
p.Met213Leu 
rs72558419 
variant of unknown significance 
1oth 
A 
Detail 
0.27 (T) 
0.435 (N)  D ( Predicted by rules : 1 2 3 4 5 ) 
7 
OTC 
P00480 
p.His214Tyr 
rs72558420 
Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] 
1oth 
A 
Detail 
0.18 (T) 
0.917 (D)  D ( Predicted by rules : 1 ) 
3 
OTC 
P00480 
p.Leu215Phe 
rs72558421 
variant of unknown significance 
1oth 
A 
Detail 
0.16 (T) 
0.998 (D)  D ( Predicted by rules : 1 ) 
3 
OTC 
P00480 
p.Gln216Glu 
rs72558423 
Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] 
1oth 
A 
Detail 
1.00 (T) 
0.132 (N)  D ( Predicted by rules : 1 ) 
3 
OTC 
P00480 
p.Ala217Glu 
rs72558424 
variant of unknown significance 
1oth 
A 
Detail 
0.01 (D) 
0.988 (D)  D ( Predicted by rules : 1 2 3 ) 
5 
OTC 
P00480 
p.Pro220Ala 
rs72558425 
Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] 
1oth 
A 
Detail 
0.00 (D) 
1 (D)  D ( Predicted by rules : 1 2 3 4 5 6 ) 
8 
OTC 
P00480 
p.Pro220Leu 
rs72558426 
variant of unknown significance 
1oth 
A 
Detail 
0.00 (D) 
1 (D)  D ( Predicted by rules : 1 2 3 4 5 6 7 ) 
9 
OTC 
P00480 
p.Pro225Arg 
rs67120076 
Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] 
1oth 
A 
Detail 
0.03 (D) 
1 (D)  D ( Predicted by rules : 1 2 3 4 5 6 ) 
8 
OTC 
P00480 
p.Pro225Thr 
rs72558428 
Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] 
1oth 
A 
Detail 
0.21 (T) 
0.679 (D)  D ( Predicted by rules : 1 2 3 4 5 6 ) 
8 
OTC 
P00480 
p.Pro225Leu 
rs67120076 
Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] 
1oth 
A 
Detail 
0.23 (T) 
1 (D)  D ( Predicted by rules : 1 2 3 4 5 6 ) 
8 
OTC 
P00480 
p.Ala233Val 
rs72558429 
variant of unknown significance 
1oth 
A 
Detail 
0.02 (D) 
0.99 (D)  D ( Predicted by rules : 1 2 ) 
4 
OTC 
P00480 
p.Glu239Val 
rs67283833 
variant of unknown significance 
1oth 
A 
Detail 
0.21 (T) 
0.39 (N)  D ( Predicted by rules : 1 2 ) 
4 
OTC 
P00480 
p.Glu239Gly 
rs67283833 
variant of unknown significance 
1oth 
A 
Detail 
() 
()  D ( Predicted by rules : 1 2 ) 
4 
OTC 
P00480 
p.Thr242Ile 
rs72558435 
Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] 
1oth 
A 
Detail 
0.07 (T) 
1 (D)  D ( Predicted by rules : 1 ) 
3 
OTC 
P00480 
p.Leu244Gln 
rs72558436 
Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] 
1oth 
A 
Detail 
0.00 (D) 
0.963 (D)  D ( Predicted by rules : 1 2 ) 
4 
OTC 
P00480 
p.Thr247Lys 
rs72558437 
Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] 
1oth 
A 
Detail 
0.04 (D) 
0.994 (D)  D ( Predicted by rules : 1 ) 
3 
OTC 
P00480 
p.Ala253Pro 
rs67330615 
variant of unknown significance 
1oth 
A 
Detail 
0.00 (D) 
1 (D)  D ( Predicted by rules : 1 2 3 4 ) 
6 
OTC 
P00480 
p.Ala253Thr 
rs67330615 
variant of unknown significance 
1oth 
A 
Detail 
() 
()  D ( Predicted by rules : 1 2 3 4 5 6 ) 
8 
OTC 
P00480 
p.His255Pro 
rs72558440 
Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] 
1oth 
A 
Detail 
0.14 (T) 
0.005 (N)  D ( Predicted by rules : 1 2 ) 
4 
OTC 
P00480 
p.Asn258Ser 
rs142592280 
variant of unknown significance 
1oth 
A 
Detail 
0.11 (T) 
0.148 (N)  D ( Predicted by rules : 1 2 ) 
4 
OTC 
P00480 
p.Leu260Ser 
rs72558441 
variant of unknown significance 
1oth 
A 
Detail 
0.00 (D) 
0.999 (D)  D ( Predicted by rules : 1 2 ) 
4 
OTC 
P00480 
p.Thr262Lys 
rs67333670 
Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] 
1oth 
A 
Detail 
0.00 (D) 
1 (D)  D ( Predicted by rules : 1 2 ) 
4 
OTC 
P00480 
p.Thr262Ile 
rs67333670 
variant of unknown significance 
1oth 
A 
Detail 
() 
()  D ( Predicted by rules : 1 2 3 4 ) 
6 
OTC 
P00480 
p.Asp263Asn 
rs72558442 
Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] 
1oth 
A 
Detail 
0.00 (D) 
1 (D)  D ( Predicted by rules : 1 2 3 4 ) 
6 
OTC 
P00480 
p.Asp263Gly 
rs72558443 
Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] 
1oth 
A 
Detail 
0.00 (D) 
1 (D)  D ( Predicted by rules : 1 2 3 4 5 ) 
7 
OTC 
P00480 
p.Thr264Ala 
rs72558444 
Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] 
1oth 
A 
Detail 
0.06 (T) 
0.998 (D)  D ( Predicted by rules : 1 2 3 4 5 ) 
7 
OTC 
P00480 
p.Thr264Ile 
rs67156896 
Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] 
1oth 
A 
Detail 
0.04 (D) 
1 (D)  D ( Predicted by rules : 1 2 3 4 5 6 7 ) 
9 
OTC 
P00480 
p.Thr264Asn 
rs67156896 
variant of unknown significance 
1oth 
A 
Detail 
0.08 (T) 
0.893 (D)  D ( Predicted by rules : 1 2 3 4 5 6 7 ) 
9 
OTC 
P00480 
p.Trp265Leu 
rs72558446 
Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] 
1oth 
A 
Detail 
0.00 (D) 
1 (D)  D ( Predicted by rules : 1 2 3 4 5 6 7 ) 
9 
OTC 
P00480 
p.Trp265Arg 
rs72558445 
variant of unknown significance 
1oth 
A 
Detail 
0.00 (D) 
1 (D)  D ( Predicted by rules : 1 2 3 4 5 6 ) 
8 
OTC 
P00480 
p.Ser267Arg 
rs72558448 
Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] 
1oth 
A 
Detail 
0.00 (D) 
1 (D)  D ( Predicted by rules : 1 2 ) 
4 
OTC 
P00480 
p.Met268Thr 
rs72558449 
Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] 
1oth 
A 
Detail 
0.00 (D) 
0.995 (D)  D ( Predicted by rules : 1 ) 
3 
OTC 
P00480 
p.Gly269Glu 
rs72558450 
Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] 
1oth 
A 
Detail 
0.00 (D) 
1 (D)  D ( Predicted by rules : 1 2 ) 
4 
OTC 
P00480 
p.Gln270Ter 
rs72558451 
variant of unknown significance 


Detail 
() 
()  N 
5 
OTC 
P00480 
p.Gln270Arg 
rs1800328 
variant of unknown significance 
1oth 
A 
Detail 
0.00 (D) 
0.952 (D)  D ( Predicted by rules : 1 2 3 4 ) 
6 
OTC 
P00480 
p.Gln270Glu 
rs72558451 
variant of unknown significance 
1oth 
A 
Detail 
() 
()  D ( Predicted by rules : 1 2 3 4 ) 
6 
OTC 
P00480 
p.Gln270Pro 
rs1800328 
variant of unknown significance 
1oth 
A 
Detail 
0.01 (D) 
0.217 (N)  D ( Predicted by rules : 1 2 3 4 5 ) 
7 
OTC 
P00480 
p.Arg277Trp 
rs72558454 
Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] 
1oth 
A 
Detail 
0.00 (D) 
1 (D)  D ( Predicted by rules : 1 2 3 4 5 6 ) 
8 
OTC 
P00480 
p.Arg277Gln 
rs66724222 
Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] 
1oth 
A 
Detail 
0.01 (D) 
1 (D)  D ( Predicted by rules : 1 2 3 4 ) 
6 
OTC 
P00480 
p.Arg277Leu 
rs66724222 
variant of unknown significance 
1oth 
A 
Detail 
() 
()  D ( Predicted by rules : 1 2 3 4 5 ) 
7 
OTC 
P00480 
p.Trp298Ser 
rs72558461 
variant of unknown significance 
1oth 
A 
Detail 
0.41 (T) 
0.934 (D)  D ( Predicted by rules : 1 ) 
3 
OTC 
P00480 
p.Leu301Phe 
rs72558462 
Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] 
1oth 
A 
Detail 
0.01 (D) 
1 (D)  D ( Predicted by rules : 1 2 ) 
4 
OTC 
P00480 
p.His302Arg 
rs67993095 
variant of unknown significance 
1oth 
A 
Detail 
0.00 (D) 
1 (D)  D ( Predicted by rules : 1 2 3 4 5 ) 
7 
OTC 
P00480 
p.His302Leu 
rs67993095 
Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] 
1oth 
A 
Detail 
0.00 (D) 
1 (D)  D ( Predicted by rules : 1 2 3 4 5 ) 
7 
OTC 
P00480 
p.His302Gln 
rs67870244 
Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] 
1oth 
A 
Detail 
0.00 (D) 
1 (D)  D ( Predicted by rules : 1 2 3 4 ) 
6 
OTC 
P00480 
p.His302Tyr 
rs72558463 
Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] 
1oth 
A 
Detail 
0.00 (D) 
1 (D)  D ( Predicted by rules : 1 2 3 4 ) 
6 
OTC 
P00480 
p.Cys303Gly 
rs67468335 
variant of unknown significance 
1oth 
A 
Detail 
() 
()  D ( Predicted by rules : 1 2 3 4 5 6 ) 
8 
OTC 
P00480 
p.Cys303Arg 
rs67468335 
Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] 
1oth 
A 
Detail 
0.00 (D) 
1 (D)  
12 
OTC 
P00480 
p.Cys303Tyr 
rs72558464 
Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] 
1oth 
A 
Detail 
0.00 (D) 
1 (D)  D ( Predicted by rules : 1 2 3 4 5 6 7 ) 
9 
OTC 
P00480 
p.Leu304Phe 
rs72558465 
Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] 
1oth 
A 
Detail 
0.00 (D) 
1 (D)  D ( Predicted by rules : 1 2 3 ) 
5 
OTC 
P00480 
p.Pro305His 
rs67501347 
Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] 
1oth 
A 
Detail 
0.00 (D) 
1 (D)  D ( Predicted by rules : 1 2 3 4 ) 
6 
OTC 
P00480 
p.Pro305Arg 
rs67501347 
variant of unknown significance 
1oth 
A 
Detail 
() 
()  D ( Predicted by rules : 1 2 3 4 5 ) 
7 
OTC 
P00480 
p.Glu310Gly 
rs72558467 
variant of unknown significance 
1oth 
A 
Detail 
0.00 (D) 
1 (D)  D ( Predicted by rules : 1 2 3 4 ) 
6 
OTC 
P00480 
p.Val311Met 
rs72558468 
variant of unknown significance 
1oth 
A 
Detail 
0.00 (D) 
1 (D)  D ( Predicted by rules : 1 ) 
3 
OTC 
P00480 
p.Glu314Ala 
rs137899554 
variant of unknown significance 
1oth 
A 
Detail 
0.21 (T) 
0.008 (N)  D ( Predicted by rules : 1 ) 
3 
OTC 
P00480 
p.Val315Gly 
rs67414444 
variant of unknown significance 
1oth 
A 
Detail 
0.00 (D) 
1 (D)  D ( Predicted by rules : 1 2 3 ) 
5 
OTC 
P00480 
p.Val315Asp 
rs67414444 
variant of unknown significance 
1oth 
A 
Detail 
() 
()  D ( Predicted by rules : 1 2 3 4 5 ) 
7 
OTC 
P00480 
p.Val315Phe 
rs72558470 
variant of unknown significance 
1oth 
A 
Detail 
0.00 (D) 
1 (D)  D ( Predicted by rules : 1 2 3 ) 
5 
OTC 
P00480 
p.Phe316Ser 
rs72558471 
variant of unknown significance 
1oth 
A 
Detail 
0.01 (D) 
1 (D)  D ( Predicted by rules : 1 2 3 ) 
5 
OTC 
P00480 
p.Ser318Phe 
rs72558472 
variant of unknown significance 
1oth 
A 
Detail 
0.06 (T) 
0.329 (N)  D ( Predicted by rules : 1 ) 
3 
OTC 
P00480 
p.Arg320Leu 
rs72558474 
Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] 
1oth 
A 
Detail 
0.07 (T) 
0.929 (D)  D ( Predicted by rules : 1 2 3 ) 
5 
OTC 
P00480 
p.Glu326Lys 
rs72558476 
Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] 
1oth 
A 
Detail 
0.01 (D) 
1 (D)  D ( Predicted by rules : 1 2 ) 
4 
OTC 
P00480 
p.Arg330Gly 
rs72558478 
Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] 
1oth 
A 
Detail 
0.00 (D) 
1 (D)  D ( Predicted by rules : 1 2 ) 
4 
OTC 
P00480 
p.Trp332Arg 
rs72558480 
variant of unknown significance 
1oth 
A 
Detail 
0.81 (T) 
1 (D)  D ( Predicted by rules : 1 2 3 ) 
5 
OTC 
P00480 
p.Thr333Ala 
 
variant of unknown significance 
1oth 
A 
Detail 
0.85 (T) 
1 (D)  D ( Predicted by rules : 1 2 ) 
4 
OTC 
P00480 
p.Ala336Ser 
rs72558486 
Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] 
1oth 
A 
Detail 
0.17 (T) 
0.655 (D)  D ( Predicted by rules : 1 2 ) 
4 
OTC 
P00480 
p.Val337Leu 
rs72558487 
Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] 
1oth 
A 
Detail 
0.49 (T) 
0.003 (N)  D ( Predicted by rules : 1 ) 
3 
OTC 
P00480 
p.Val339Leu 
rs72558488 
Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] 
1oth 
A 
Detail 
0.38 (T) 
0.001 (N)  D ( Predicted by rules : 1 ) 
3 
OTC 
P00480 
p.Ser340Pro 
rs72558489 
Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] 
1oth 
A 
Detail 
0.20 (T) 
0.997 (D)  D ( Predicted by rules : 1 2 3 ) 
5 
OTC 
P00480 
p.Leu341Pro 
rs72558490 
Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] 
1oth 
A 
Detail 
0.02 (D) 
1 (D)  D ( Predicted by rules : 1 2 3 4 ) 
6 
OTC 
P00480 
p.Thr343Lys 
rs72558491 
Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] 
1oth 
A 
Detail 
0.95 (T) 
0.016 (N)  D ( Predicted by rules : 1 ) 
3 
OTC 
P00480 
p.Tyr345His 
rs66469337 
variant of unknown significance 
1oth 
A 
Detail 
0.52 (T) 
0.023 (N)  D ( Predicted by rules : 1 2 3 4 ) 
6 
OTC 
P00480 
p.Tyr345Asp 
rs66469337 
Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] 
1oth 
A 
Detail 
0.19 (T) 
0.994 (D)  D ( Predicted by rules : 1 2 3 4 ) 
6 
OTC 
P00480 
p.Tyr345Cys 
rs72558492 
Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] 
1oth 
A 
Detail 
0.16 (T) 
0.998 (D)  D ( Predicted by rules : 1 2 3 4 5 ) 
7 
OTC 
P00480 
p.Pro347Thr 
rs72558493 
variant of unknown significance 
1oth 
A 
Detail 
0.26 (T) 
0.999 (D)  D ( Predicted by rules : 1 2 ) 