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Gene Protein AA change dbSNP Phenotype Chain Detail
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1 ASS1 P00966 p.Val7Met rs149938546 variant of unknown significance
2nz2
A
Detail
0.02 (D)
1 (D)
N
2 ASS1 P00966 p.Leu9Val rs144999474 variant of unknown significance
2nz2
A
Detail
0.01 (D)
0.999 (D)
N
3 ASS1 P00966 p.Gly14Ser rs121908636 Citrullinemia type 1 (CTLN1) [MIM:215700]
2nz2
A
Detail
0.00 (D)
1 (D)
D ( Predicted by rules : 1 )
3 ASS1 P00966 p.Ser18Leu rs121908643 Citrullinemia type 1 (CTLN1) [MIM:215700]
2nz2
A
Detail
0.00 (D)
1 (D)
D ( Predicted by rules : 1 2 )
4 ASS1 P00966 p.Cys19Arg - Citrullinemia type 1 (CTLN1) [MIM:215700]
2nz2
A
Detail
0.01 (D)
1 (D)
D ( Predicted by rules : 1 2 3 4 )
6 ASS1 P00966 p.Ile32Val rs142221856 variant of unknown significance
2nz2
A
Detail
0.79 (T)
0.003 (N)
N
7 ASS1 P00966 p.Gln40Leu - Citrullinemia type 1 (CTLN1) [MIM:215700]
2nz2
A
Detail
0.00 (D)
0.765 (D)
D ( Predicted by rules : 1 )
3 ASS1 P00966 p.Ala51Thr rs142350255 variant of unknown significance
2nz2
A
Detail
0.00 (D)
1 (D)
D ( Predicted by rules : 1 )
3 ASS1 P00966 p.Ser65Ile rs2229556 variant of unknown significance
2nz2
A
Detail
0.05 (T)
0.823 (D)
D ( Predicted by rules : 1 2 )
4 ASS1 P00966 p.Val69Ala - Citrullinemia type 1 (CTLN1) [MIM:215700]
2nz2
A
Detail
0.67 (T)
0.977 (D)
N
5 ASS1 P00966 p.Ser79Pro - Citrullinemia type 1 (CTLN1) [MIM:215700]
2nz2
A
Detail
0.02 (D)
0.939 (D)
D ( Predicted by rules : 1 2 )
4 ASS1 P00966 p.Ala81Thr rs141640176 variant of unknown significance
2nz2
A
Detail
0.07 (T)
0.971 (D)
D ( Predicted by rules : 1 )
3 ASS1 P00966 p.Asp85Gly rs112797174 variant of unknown significance
2nz2
A
Detail
1.00 (T)
0.177 (N)
N
4 ASS1 P00966 p.Arg86His - Citrullinemia type 1 (CTLN1) [MIM:215700]
2nz2
A
Detail
0.10 (T)
1 (D)
D ( Predicted by rules : 1 )
3 ASS1 P00966 p.Arg86Cys rs121908644 Citrullinemia type 1 (CTLN1) [MIM:215700]
2nz2
A
Detail
0.08 (T)
0.999 (D)
D ( Predicted by rules : 1 )
3 ASS1 P00966 p.Arg95Ser - Citrullinemia type 1 (CTLN1) [MIM:215700]
2nz2
A
Detail
0.00 (D)
1 (D)
D ( Predicted by rules : 1 2 3 )
5 ASS1 P00966 p.Pro96Ser - Citrullinemia type 1 (CTLN1) [MIM:215700]
2nz2
A
Detail
0.02 (D)
1 (D)
D ( Predicted by rules : 1 2 )
4 ASS1 P00966 p.Pro96His - Citrullinemia type 1 (CTLN1) [MIM:215700]
2nz2
A
Detail
0.04 (D)
1 (D)
D ( Predicted by rules : 1 )
3 ASS1 P00966 p.Ala99Thr rs150466363 variant of unknown significance
2nz2
A
Detail
0.08 (T)
0.99 (D)
D ( Predicted by rules : 1 )
3 ASS1 P00966 p.Arg100His rs138279074 variant of unknown significance
2nz2
A
Detail
0.03 (D)
0.738 (D)
N
4 ASS1 P00966 p.Gln107Arg rs149602848 variant of unknown significance
2nz2
A
Detail
1.00 (T)
0 (N)
N
5 ASS1 P00966 p.Arg108Leu rs35269064 Citrullinemia type 1 (CTLN1) [MIM:215700]
2nz2
A
Detail
0.08 (T)
0.178 (N)
D ( Predicted by rules : 1 2 )
4 ASS1 P00966 p.Arg108Trp rs143405567 variant of unknown significance
2nz2
A
Detail
0.00 (D)
0.99 (D)
D ( Predicted by rules : 1 2 )
4 ASS1 P00966 p.Gly117Asp - Citrullinemia type 1 (CTLN1) [MIM:215700]
2nz2
A
Detail
0.00 (D)
1 (D)
D ( Predicted by rules : 1 2 3 4 5 )
7 ASS1 P00966 p.Gly117Ser - Citrullinemia type 1 (CTLN1) [MIM:215700]
2nz2
A
Detail
0.03 (D)
1 (D)
D ( Predicted by rules : 1 2 3 )
5 ASS1 P00966 p.Ala118Thr - Citrullinemia type 1 (CTLN1) [MIM:215700]
2nz2
A
Detail
0.12 (T)
1 (D)
D ( Predicted by rules : 1 )
3 ASS1 P00966 p.Thr119Ile - Citrullinemia type 1 (CTLN1) [MIM:215700]
2nz2
A
Detail
0.00 (D)
1 (D)
D ( Predicted by rules : 1 )
3 ASS1 P00966 p.Asp124Asn - Citrullinemia type 1 (CTLN1) [MIM:215700]
2nz2
A
Detail
0.01 (D)
1 (D)
N
4 ASS1 P00966 p.Arg127Gln - Citrullinemia type 1 (CTLN1) [MIM:215700]
2nz2
A
Detail
0.00 (D)
1 (D)
D ( Predicted by rules : 1 2 3 )
5 ASS1 P00966 p.Arg127Trp - Citrullinemia type 1 (CTLN1) [MIM:215700]
2nz2
A
Detail
0.00 (D)
1 (D)
D ( Predicted by rules : 1 2 3 )
5 ASS1 P00966 p.Arg157Cys - Citrullinemia type 1 (CTLN1) [MIM:215700]
2nz2
A
Detail
0.00 (D)
0.245 (N)
D ( Predicted by rules : 1 2 3 4 )
6 ASS1 P00966 p.Arg157His rs121908637 Citrullinemia type 1 (CTLN1) [MIM:215700]
2nz2
A
Detail
0.00 (D)
0.998 (D)
D ( Predicted by rules : 1 2 )
4 ASS1 P00966 p.Leu160Pro - Citrullinemia type 1 (CTLN1) [MIM:215700]
2nz2
A
Detail
0.04 (D)
1 (D)
D ( Predicted by rules : 1 2 3 )
5 ASS1 P00966 p.Trp179Arg rs121908646 Citrullinemia type 1 (CTLN1) [MIM:215700]
2nz2
A
Detail
0.00 (D)
1 (D)
D ( Predicted by rules : 1 )
3 ASS1 P00966 p.Ser180Asn rs121908638 Citrullinemia type 1 (CTLN1) [MIM:215700]
2nz2
A
Detail
0.00 (D)
0.997 (D)
N
4 ASS1 P00966 p.Tyr190Asp - Citrullinemia type 1 (CTLN1) [MIM:215700]
2nz2
A
Detail
0.11 (T)
0.999 (D)
D ( Predicted by rules : 1 2 )
4 ASS1 P00966 p.Glu191Lys - Citrullinemia type 1 (CTLN1) [MIM:215700]
2nz2
A
Detail
0.00 (D)
1 (D)
D ( Predicted by rules : 1 2 3 )
5 ASS1 P00966 p.Glu191Gln - Citrullinemia type 1 (CTLN1) [MIM:215700]
2nz2
A
Detail
0.03 (D)
1 (D)
D ( Predicted by rules : 1 )
3 ASS1 P00966 p.Ala192Val - Citrullinemia type 1 (CTLN1) [MIM:215700]
2nz2
A
Detail
0.01 (D)
0.818 (D)
N
4 ASS1 P00966 p.Ala202Glu - Citrullinemia type 1 (CTLN1) [MIM:215700]
2nz2
A
Detail
0.13 (T)
0.997 (D)
D ( Predicted by rules : 1 2 )
4 ASS1 P00966 p.Leu206Pro - Citrullinemia type 1 (CTLN1) [MIM:215700]
2nz2
A
Detail
0.17 (T)
1 (D)
D ( Predicted by rules : 1 2 3 )
5 ASS1 P00966 p.Glu256Lys rs74923032 variant of unknown significance
2nz2
A
Detail
0.74 (T)
0 (N)
N
6 ASS1 P00966 p.Val263Met rs192838388 Citrullinemia type 1 (CTLN1) [MIM:215700]
2nz2
A
Detail
0.00 (D)
1 (D)
D ( Predicted by rules : 1 )
3 ASS1 P00966 p.Arg265Cys rs148918985 Citrullinemia type 1 (CTLN1) [MIM:215700]
2nz2
A
Detail
0.01 (D)
1 (D)
N
4 ASS1 P00966 p.Arg265His - Citrullinemia type 1 (CTLN1) [MIM:215700]
2nz2
A
Detail
0.04 (D)
1 (D)
D ( Predicted by rules : 1 )
3 ASS1 P00966 p.Val269Met - Citrullinemia type 1 (CTLN1) [MIM:215700]
2nz2
A
Detail
0.03 (D)
1 (D)
N
4 ASS1 P00966 p.Glu270Gln - Citrullinemia type 1 (CTLN1) [MIM:215700]
2nz2
A
Detail
0.00 (D)
1 (D)
D ( Predicted by rules : 1 2 3 )
5 ASS1 P00966 p.Arg272Cys - Citrullinemia type 1 (CTLN1) [MIM:215700]
2nz2
A
Detail
0.00 (D)
1 (D)
D ( Predicted by rules : 1 2 3 )
5 ASS1 P00966 p.Lys277Thr - Citrullinemia type 1 (CTLN1) [MIM:215700]
2nz2
A
Detail
0.00 (D)
1 (D)
N
6 ASS1 P00966 p.Arg279Gln - Citrullinemia type 1 (CTLN1) [MIM:215700]
2nz2
A
Detail
0.00 (D)
1 (D)
D ( Predicted by rules : 1 2 3 )
5 ASS1 P00966 p.Gly280Arg - Citrullinemia type 1 (CTLN1) [MIM:215700]
2nz2
A
Detail
0.03 (D)
1 (D)
D ( Predicted by rules : 1 2 )
4 ASS1 P00966 p.Glu283Lys - Citrullinemia type 1 (CTLN1) [MIM:215700]
2nz2
A
Detail
0.00 (D)
1 (D)
D ( Predicted by rules : 1 )
3 ASS1 P00966 p.Thr284Ile - Citrullinemia type 1 (CTLN1) [MIM:215700]
2nz2
A
Detail
0.02 (D)
0.999 (D)
D ( Predicted by rules : 1 2 )
4 ASS1 P00966 p.Tyr291Ser - Citrullinemia type 1 (CTLN1) [MIM:215700]
2nz2
A
Detail
0.39 (T)
0.832 (D)
D ( Predicted by rules : 1 2 )
4 ASS1 P00966 p.Asp296Gly - Citrullinemia type 1 (CTLN1) [MIM:215700]
2nz2
A
Detail
0.37 (T)
1 (D)
N
5 ASS1 P00966 p.Met302Val - Citrullinemia type 1 (CTLN1) [MIM:215700]
2nz2
A
Detail
0.09 (T)
0.432 (N)
N
6 ASS1 P00966 p.Arg304Trp rs121908642 Citrullinemia type 1 (CTLN1) [MIM:215700]
2nz2
A
Detail
0.00 (D)
1 (D)
D ( Predicted by rules : 1 )
3 ASS1 P00966 p.Arg307Cys rs183276875 Citrullinemia type 1 (CTLN1) [MIM:215700]
2nz2
A
Detail
0.03 (D)
0.999 (D)
N
4 ASS1 P00966 p.Lys308Asn rs151056441 variant of unknown significance
2nz2
A
Detail
0.15 (T)
0.919 (D)
N
5 ASS1 P00966 p.Lys310Arg - Citrullinemia type 1 (CTLN1) [MIM:215700]
2nz2
A
Detail
0.25 (T)
0.996 (D)
D ( Predicted by rules : 1 )
3 ASS1 P00966 p.Lys310Gln rs121908648 Citrullinemia type 1 (CTLN1) [MIM:215700]
2nz2
A
Detail
0.06 (T)
1 (D)
D ( Predicted by rules : 1 )
3 ASS1 P00966 p.Gly324Val - Citrullinemia type 1 (CTLN1) [MIM:215700]
2nz2
A
Detail
0.00 (D)
1 (D)
D ( Predicted by rules : 1 2 3 4 5 )
7 ASS1 P00966 p.Gly324Ser rs121908639 Citrullinemia type 1 (CTLN1) [MIM:215700]
2nz2
A
Detail
0.01 (D)
1 (D)
D ( Predicted by rules : 1 2 3 4 5 )
7 ASS1 P00966 p.Ala339Thr rs145100866 variant of unknown significance
2nz2
A
Detail
0.49 (T)
0.002 (N)
N
8 ASS1 P00966 p.Ser341Phe - Citrullinemia type 1 (CTLN1) [MIM:215700]
2nz2
A
Detail
0.05 (D)
1 (D)
N
9 ASS1 P00966 p.Val345Gly - Citrullinemia type 1 (CTLN1) [MIM:215700]
2nz2
A
Detail
0.00 (D)
1 (D)
D ( Predicted by rules : 1 2 3 4 )
6 ASS1 P00966 p.Gly347Arg - Citrullinemia type 1 (CTLN1) [MIM:215700]
2nz2
A
Detail
0.00 (D)
1 (D)
D ( Predicted by rules : 1 )
3 ASS1 P00966 p.Tyr359Asp - Citrullinemia type 1 (CTLN1) [MIM:215700]
2nz2
A
Detail
0.20 (T)
0.963 (D)
N
4 ASS1 P00966 p.Gly362Val rs121908647 Citrullinemia type 1 (CTLN1) [MIM:215700]
2nz2
A
Detail
0.01 (D)
0.93 (D)
D ( Predicted by rules : 1 )
3 ASS1 P00966 p.Arg363Gly - Citrullinemia type 1 (CTLN1) [MIM:215700]
2nz2
A
Detail
0.07 (T)
1 (D)
D ( Predicted by rules : 1 2 3 )
5 ASS1 P00966 p.Arg363Trp rs121908640 Citrullinemia type 1 (CTLN1) [MIM:215700]
2nz2
A
Detail
0.04 (D)
1 (D)
D ( Predicted by rules : 1 2 3 4 5 )
7 ASS1 P00966 p.Arg363Leu - Citrullinemia type 1 (CTLN1) [MIM:215700]
2nz2
A
Detail
0.07 (T)
1 (D)
D ( Predicted by rules : 1 2 3 4 )
6 ASS1 P00966 p.Arg363Gln - Citrullinemia type 1 (CTLN1) [MIM:215700]
2nz2
A
Detail
0.10 (T)
1 (D)
D ( Predicted by rules : 1 2 3 )
5 ASS1 P00966 p.Val379Met rs78549067 variant of unknown significance
2nz2
A
Detail
0.12 (T)
0.986 (D)
N
6 ASS1 P00966 p.Thr389Ala rs145288815 variant of unknown significance
2nz2
A
Detail
0.74 (T)
0.001 (N)
D ( Predicted by rules : 1 )
3 ASS1 P00966 p.Thr389Ile - Citrullinemia type 1 (CTLN1) [MIM:215700]
2nz2
A
Detail
0.21 (T)
0.185 (N)
D ( Predicted by rules : 1 )
3 ASS1 P00966 p.Gly390Arg rs121908641 Citrullinemia type 1 (CTLN1) [MIM:215700]
2nz2
A
Detail
0.00 (D)
1 (D)
N