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Gene Protein AA change dbSNP Phenotype Chain Detail
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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)
D ( Predicted by rules : 1 2 3 4 5 6 7 8 9 )
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)
D ( Predicted by rules : 1 2 3 4 5 6 7 8 9 )
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)
D ( Predicted by rules : 1 2 3 4 5 6 7 8 9 10 )
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 )