1 |
TRIOBP |
NM_001039141.3(TRIOBP):c.1447C>T (p.Gln483Ter) |
SNV |
Pathogenic |
402280 |
rs1060499809 |
22:38120010-38120010 |
22:37724003-37724003 |
2 |
TRIOBP |
NM_001039141.3(TRIOBP):c.3055G>A (p.Gly1019Arg) |
SNV |
Pathogenic |
402281 |
rs549095193 |
22:38121618-38121618 |
22:37725611-37725611 |
3 |
TRIOBP |
NM_001039141.3(TRIOBP):c.3634_3646del (p.Leu1212fs) |
deletion |
Pathogenic |
562075 |
rs1569042782 |
22:38122196-38122208 |
22:37726189-37726201 |
4 |
TRIOBP |
NM_001039141.3(TRIOBP):c.1039C>T (p.Arg347Ter) |
SNV |
Pathogenic |
1490 |
rs118204026 |
22:38119602-38119602 |
22:37723595-37723595 |
5 |
TRIOBP |
NM_001039141.3(TRIOBP):c.1741C>T (p.Gln581Ter) |
SNV |
Pathogenic |
1491 |
rs118204027 |
22:38120304-38120304 |
22:37724297-37724297 |
6 |
TRIOBP |
NM_001039141.3(TRIOBP):c.889C>T (p.Gln297Ter) |
SNV |
Pathogenic |
1492 |
rs118204028 |
22:38119452-38119452 |
22:37723445-37723445 |
7 |
TRIOBP |
NM_001039141.3(TRIOBP):c.2362C>T (p.Arg788Ter) |
SNV |
Pathogenic |
1493 |
rs118204029 |
22:38120925-38120925 |
22:37724918-37724918 |
8 |
TRIOBP |
NM_001039141.3(TRIOBP):c.3202C>T (p.Arg1068Ter) |
SNV |
Pathogenic |
1494 |
rs118204030 |
22:38121765-38121765 |
22:37725758-37725758 |
9 |
TRIOBP |
NM_001039141.3(TRIOBP):c.3349C>T (p.Arg1117Ter) |
SNV |
Pathogenic |
1495 |
rs118204031 |
22:38121912-38121912 |
22:37725905-37725905 |
10 |
TRIOBP |
NM_001039141.3(TRIOBP):c.3202_3203del (p.Asp1069fs) |
deletion |
Pathogenic |
1496 |
|
22:38121765-38121766 |
22:37725758-37725759 |
11 |
TRIOBP |
TRIOBP, 1-BP INS, 3225C |
insertion |
Pathogenic |
1497 |
|
|
|
12 |
TRIOBP |
NM_001039141.3(TRIOBP):c.3524C>A (p.Ser1175Ter) |
SNV |
Pathogenic |
627486 |
rs1569042693 |
22:38122087-38122087 |
22:37726080-37726080 |
13 |
TRIOBP |
NM_001039141.3(TRIOBP):c.4291G>T (p.Glu1431Ter) |
SNV |
Pathogenic |
627485 |
rs1569046250 |
22:38130634-38130634 |
22:37734627-37734627 |
14 |
TRIOBP |
NM_001039141.3(TRIOBP):c.131C>G (p.Ser44Ter) |
SNV |
Likely pathogenic |
627487 |
rs1569034190 |
22:38106450-38106450 |
22:37710443-37710443 |
15 |
TRIOBP |
NM_001039141.3(TRIOBP):c.826C>T (p.Pro276Ser) |
SNV |
Likely pathogenic |
627488 |
rs1569040134 |
22:38119389-38119389 |
22:37723382-37723382 |
16 |
TRIOBP |
NM_001039141.3(TRIOBP):c.3143_3144AG[1] (p.Glu1048_Ser1049insTer) |
short repeat |
Likely pathogenic |
495111 |
rs1555896285 |
22:38121705-38121706 |
22:37725698-37725699 |
17 |
TRIO |
NM_007118.4(TRIO):c.3232C>T (p.Arg1078Trp) |
SNV |
Conflicting interpretations of pathogenicity |
449111 |
rs1554065887 |
5:14374353-14374353 |
5:14374244-14374244 |
18 |
TRIOBP |
NM_001039141.3(TRIOBP):c.815C>A (p.Thr272Lys) |
SNV |
Conflicting interpretations of pathogenicity |
156028 |
rs140901235 |
22:38119378-38119378 |
22:37723371-37723371 |
19 |
TRIOBP |
NM_001039141.3(TRIOBP):c.4031G>A (p.Arg1344Gln) |
SNV |
Conflicting interpretations of pathogenicity |
165587 |
rs34066624 |
22:38129388-38129388 |
22:37733381-37733381 |
20 |
TRIOBP |
NM_001039141.3(TRIOBP):c.6362C>T (p.Ser2121Leu) |
SNV |
Conflicting interpretations of pathogenicity |
165609 |
rs201724032 |
22:38161714-38161714 |
22:37765707-37765707 |
21 |
TRIOBP |
NM_001039141.3(TRIOBP):c.2201C>T (p.Ser734Phe) |
SNV |
Conflicting interpretations of pathogenicity |
290786 |
rs199794705 |
22:38120764-38120764 |
22:37724757-37724757 |
22 |
TRIOBP |
NM_001039141.3(TRIOBP):c.536G>C (p.Arg179Pro) |
SNV |
Uncertain significance |
828103 |
|
22:38111849-38111849 |
22:37715842-37715842 |
23 |
TRIOBP |
NM_001039141.3(TRIOBP):c.6860G>A (p.Arg2287His) |
SNV |
Uncertain significance |
225500 |
rs370737996 |
22:38167667-38167667 |
22:37771660-37771660 |
24 |
TRIOBP |
NM_001039141.3(TRIOBP):c.5705A>C (p.Lys1902Thr) |
SNV |
Uncertain significance |
229363 |
rs138804394 |
22:38153637-38153637 |
22:37757630-37757630 |
25 |
TRIOBP |
NM_001039141.3(TRIOBP):c.6515G>A (p.Arg2172Gln) |
SNV |
Uncertain significance |
229368 |
rs200528850 |
22:38164123-38164123 |
22:37768116-37768116 |
26 |
TRIOBP |
NM_001039141.3(TRIOBP):c.1283C>G (p.Pro428Arg) |
SNV |
Uncertain significance |
285798 |
rs372134073 |
22:38119846-38119846 |
22:37723839-37723839 |
27 |
TRIOBP |
NM_001039141.3(TRIOBP):c.2149C>G (p.Gln717Glu) |
SNV |
Uncertain significance |
286759 |
rs186620158 |
22:38120712-38120712 |
22:37724705-37724705 |
28 |
TRIOBP |
NM_001039141.3(TRIOBP):c.2061_2132del (p.Ser688_Pro711del) |
deletion |
Uncertain significance |
638335 |
|
22:38120605-38120676 |
22:37724598-37724669 |
29 |
TRIOBP |
NM_001039141.3(TRIOBP):c.154G>A (p.Asp52Asn) |
SNV |
Uncertain significance |
626273 |
rs147691840 |
22:38106473-38106473 |
22:37710466-37710466 |
30 |
TRIOBP |
NM_001039141.3(TRIOBP):c.6548G>A (p.Gly2183Asp) |
SNV |
Uncertain significance |
626274 |
rs780554525 |
22:38164156-38164156 |
22:37768149-37768149 |
31 |
TRIOBP |
NM_001039141.3(TRIOBP):c.2064C>A (p.Ser688Arg) |
SNV |
Uncertain significance |
523064 |
rs1555896093 |
22:38120627-38120627 |
22:37724620-37724620 |
32 |
TRIOBP |
NM_001039141.3(TRIOBP):c.2018G>A (p.Arg673Lys) |
SNV |
Uncertain significance |
547924 |
rs370666072 |
22:38120581-38120581 |
22:37724574-37724574 |
33 |
TRIOBP |
NM_001039141.3(TRIOBP):c.1478G>A (p.Ser493Asn) |
SNV |
Benign/Likely benign |
508124 |
rs4821700 |
22:38120041-38120041 |
22:37724034-37724034 |
34 |
TRIOBP |
NM_001039141.3(TRIOBP):c.6741G>A (p.Leu2247=) |
SNV |
Benign/Likely benign |
165612 |
rs375013523 |
22:38165274-38165274 |
22:37769267-37769267 |
35 |
TRIOBP |
NM_001039141.3(TRIOBP):c.2477C>T (p.Ser826Leu) |
SNV |
Benign |
811578 |
|
22:38121040-38121040 |
22:37725033-37725033 |
36 |
TRIOBP |
NM_001039141.3(TRIOBP):c.3089C>G (p.Pro1030Arg) |
SNV |
Benign |
811604 |
|
22:38121652-38121652 |
22:37725645-37725645 |
37 |
TRIOBP |
NM_001039141.3(TRIOBP):c.1193_1195del (p.Gln398del) |
deletion |
Benign |
198447 |
rs55745992 |
22:38119755-38119757 |
22:37723748-37723750 |