1 |
CD3E |
NM_000733.4(CD3E):c.261_262del (p.Ser88fs) | ‎‎
deletion |
Pathogenic |
847887 |
|
11:118183488-118183489 |
11:118312773-118312774 |
2 |
CD3E |
NM_000733.4(CD3E):c.490C>T (p.Arg164Ter) | ‎‎
SNV |
Pathogenic |
847888 |
|
11:118184559-118184559 |
11:118313844-118313844 |
3 |
CD3E |
NM_000733.3(CD3E):c.520+2T>C | ‎‎
SNV |
Pathogenic |
12744 |
rs483352928 |
11:118184591-118184591 |
11:118313876-118313876 |
4 |
CD3E |
NM_000733.3(CD3E):c.176G>A (p.Trp59Ter) | ‎‎
SNV |
Pathogenic |
12745 |
rs121918659 |
11:118183405-118183405 |
11:118312690-118312690 |
5 |
CD3E |
NM_000733.3(CD3E):c.128_129del (p.Thr43fs) | ‎‎
deletion |
Pathogenic |
12746 |
rs483352929 |
11:118183357-118183358 |
11:118312642-118312643 |
6 |
CD3E |
NM_000733.4(CD3E):c.103+1G>A | ‎‎
SNV |
Likely pathogenic |
835442 |
|
11:118182886-118182886 |
11:118312171-118312171 |
7 |
CD3E |
NM_000733.3(CD3E):c.103+1G>T | ‎‎
SNV |
Likely pathogenic |
570046 |
rs201543770 |
11:118182886-118182886 |
11:118312171-118312171 |
8 |
CD3E |
NM_000733.3(CD3E):c.470C>T (p.Ala157Val) | ‎‎
SNV |
Conflicting interpretations of pathogenicity |
496074 |
rs140639753 |
11:118184539-118184539 |
11:118313824-118313824 |
9 |
CD3E |
NM_000733.3(CD3E):c.211G>C (p.Asp71His) | ‎‎
SNV |
Conflicting interpretations of pathogenicity |
302662 |
rs148647954 |
11:118183440-118183440 |
11:118312725-118312725 |
10 |
CD3E |
NM_000733.3(CD3E):c.458A>C (p.Lys153Thr) | ‎‎
SNV |
Uncertain significance |
302663 |
rs200258299 |
11:118184527-118184527 |
11:118313812-118313812 |
11 |
CD3E |
NM_000733.3(CD3E):c.*441C>T | ‎‎
SNV |
Uncertain significance |
302667 |
rs886047736 |
11:118186698-118186698 |
11:118315983-118315983 |
12 |
CD3E |
NM_000733.3(CD3E):c.-166G>A | ‎‎
SNV |
Uncertain significance |
302656 |
rs886047735 |
11:118175385-118175385 |
11:118304670-118304670 |
13 |
CD3E |
NM_000733.3(CD3E):c.580G>A (p.Gly194Ser) | ‎‎
SNV |
Uncertain significance |
302664 |
rs141553540 |
11:118186213-118186213 |
11:118315498-118315498 |
14 |
CD3E |
NM_000733.3(CD3E):c.*535C>G | ‎‎
SNV |
Uncertain significance |
302668 |
rs200286219 |
11:118186792-118186792 |
11:118316077-118316077 |
15 |
CD3E |
NM_000733.3(CD3E):c.-73T>C | ‎‎
SNV |
Uncertain significance |
302658 |
rs867899567 |
11:118175478-118175478 |
11:118304763-118304763 |
16 |
CD3E |
NM_000733.3(CD3E):c.73A>G (p.Asn25Asp) | ‎‎
SNV |
Uncertain significance |
302660 |
rs201867379 |
11:118179144-118179144 |
11:118308429-118308429 |
17 |
CD3E |
NM_000733.3(CD3E):c.49+3G>A | ‎‎
SNV |
Uncertain significance |
541658 |
rs202200315 |
11:118175719-118175719 |
11:118305004-118305004 |
18 |
CD3E |
NM_000733.3(CD3E):c.353-5C>A | ‎‎
SNV |
Uncertain significance |
541657 |
rs374456909 |
11:118184417-118184417 |
11:118313702-118313702 |
19 |
CD3E |
NM_000733.3(CD3E):c.567+10G>T | ‎‎
SNV |
Uncertain significance |
569657 |
rs920180688 |
11:118185219-118185219 |
11:118314504-118314504 |
20 |
CD3E |
NM_000733.4(CD3E):c.292T>C (p.Cys98Arg) | ‎‎
SNV |
Uncertain significance |
862305 |
|
11:118183521-118183521 |
11:118312806-118312806 |
21 |
CD3E |
NM_000733.4(CD3E):c.360G>C (p.Glu120Asp) | ‎‎
SNV |
Uncertain significance |
860753 |
|
11:118184429-118184429 |
11:118313714-118313714 |
22 |
CD3E |
NM_000733.4(CD3E):c.500G>T (p.Gly167Val) | ‎‎
SNV |
Uncertain significance |
856082 |
|
11:118184569-118184569 |
11:118313854-118313854 |
23 |
CD3E |
NM_000733.4(CD3E):c.17A>C (p.His6Pro) | ‎‎
SNV |
Uncertain significance |
841090 |
|
11:118175684-118175684 |
11:118304969-118304969 |
24 |
CD3E |
NM_000733.4(CD3E):c.202G>A (p.Gly68Ser) | ‎‎
SNV |
Uncertain significance |
838943 |
|
11:118183431-118183431 |
11:118312716-118312716 |
25 |
CD3E |
NM_000733.3(CD3E):c.499G>A (p.Gly167Ser) | ‎‎
SNV |
Uncertain significance |
645439 |
|
11:118184568-118184568 |
11:118313853-118313853 |
26 |
CD3E |
NM_000733.3(CD3E):c.575G>A (p.Arg192Gln) | ‎‎
SNV |
Uncertain significance |
646469 |
|
11:118186208-118186208 |
11:118315493-118315493 |
27 |
CD3E |
NM_000733.3(CD3E):c.617G>A (p.Arg206His) | ‎‎
SNV |
Uncertain significance |
652168 |
|
11:118186250-118186250 |
11:118315535-118315535 |
28 |
CD3E |
NM_000733.3(CD3E):c.298C>A (p.Pro100Thr) | ‎‎
SNV |
Uncertain significance |
646902 |
|
11:118183527-118183527 |
11:118312812-118312812 |
29 |
CD3E |
NM_000733.4(CD3E):c.82A>C (p.Met28Leu) | ‎‎
SNV |
Uncertain significance |
877840 |
|
11:118179153-118179153 |
11:118308438-118308438 |
30 |
CD3E |
NM_000733.4(CD3E):c.408G>A (p.Val136=) | ‎‎
SNV |
Uncertain significance |
877842 |
|
11:118184477-118184477 |
11:118313762-118313762 |
31 |
CD3E |
NM_000733.4(CD3E):c.441G>A (p.Leu147=) | ‎‎
SNV |
Uncertain significance |
877998 |
|
11:118184510-118184510 |
11:118313795-118313795 |
32 |
CD3E |
NM_000733.4(CD3E):c.611A>G (p.Gln204Arg) | ‎‎
SNV |
Uncertain significance |
877999 |
|
11:118186244-118186244 |
11:118315529-118315529 |
33 |
CD3E |
NM_000733.4(CD3E):c.*196C>G | ‎‎
SNV |
Uncertain significance |
878000 |
|
11:118186453-118186453 |
11:118315738-118315738 |
34 |
CD3E |
NM_000733.4(CD3E):c.*247C>T | ‎‎
SNV |
Uncertain significance |
879461 |
|
11:118186504-118186504 |
11:118315789-118315789 |
35 |
CD3E |
NM_000733.4(CD3E):c.*311C>T | ‎‎
SNV |
Uncertain significance |
879462 |
|
11:118186568-118186568 |
11:118315853-118315853 |
36 |
CD3E |
NM_000733.4(CD3E):c.*383C>T | ‎‎
SNV |
Uncertain significance |
879463 |
|
11:118186640-118186640 |
11:118315925-118315925 |
37 |
CD3E |
NM_000733.4(CD3E):c.530del (p.Lys177fs) | ‎‎
deletion |
Uncertain significance |
855359 |
|
11:118185171-118185171 |
11:118314456-118314456 |
38 |
CD3E |
NC_000011.10:g.118316181T>C | ‎‎
SNV |
Uncertain significance |
879823 |
|
11:118186896-118186896 |
11:118316181-118316181 |
39 |
CD3E |
NM_000733.4(CD3E):c.*522C>G | ‎‎
SNV |
Uncertain significance |
879465 |
|
11:118186779-118186779 |
11:118316064-118316064 |
40 |
CD3E |
NM_000733.4(CD3E):c.*557T>C | ‎‎
SNV |
Uncertain significance |
879466 |
|
11:118186814-118186814 |
11:118316099-118316099 |
41 |
CD3E |
NM_000733.4(CD3E):c.*559G>C | ‎‎
SNV |
Uncertain significance |
879821 |
|
11:118186816-118186816 |
11:118316101-118316101 |
42 |
CD3E |
NM_000733.4(CD3E):c.*604G>T | ‎‎
SNV |
Uncertain significance |
879822 |
|
11:118186861-118186861 |
11:118316146-118316146 |
43 |
CD3E |
NM_000733.4(CD3E):c.353-11A>T | ‎‎
SNV |
Likely benign |
877841 |
|
11:118184411-118184411 |
11:118313696-118313696 |
44 |
CD3E |
NM_000733.4(CD3E):c.*410A>G | ‎‎
SNV |
Likely benign |
879464 |
|
11:118186667-118186667 |
11:118315952-118315952 |
45 |
CD3E |
NM_000733.4(CD3E):c.103+10T>C | ‎‎
SNV |
Likely benign |
744708 |
|
11:118182895-118182895 |
11:118312180-118312180 |
46 |
CD3E |
NM_000733.4(CD3E):c.567+6G>A | ‎‎
SNV |
Likely benign |
739300 |
|
11:118185215-118185215 |
11:118314500-118314500 |
47 |
CD3E |
NM_000733.4(CD3E):c.27T>G (p.Val9=) | ‎‎
SNV |
Likely benign |
757751 |
|
11:118175694-118175694 |
11:118304979-118304979 |
48 |
CD3E |
NM_000733.4(CD3E):c.297C>T (p.Tyr99=) | ‎‎
SNV |
Likely benign |
792968 |
|
11:118183526-118183526 |
11:118312811-118312811 |
49 |
CD3E |
NM_000733.3(CD3E):c.103C>T (p.Pro35Ser) | ‎‎
SNV |
Benign/Likely benign |
302661 |
rs143949187 |
11:118182885-118182885 |
11:118312170-118312170 |
50 |
CD3E |
NM_000733.3(CD3E):c.498G>A (p.Ala166=) | ‎‎
SNV |
Benign/Likely benign |
35806 |
rs78373007 |
11:118184567-118184567 |
11:118313852-118313852 |