1 |
IFIH1 |
NM_022168.4(IFIH1):c.2465G>A (p.Arg822Gln) |
SNV |
Pathogenic |
189338 |
rs376048533 |
2:163128887-163128887 |
2:162272377-162272377 |
2 |
IFIH1 |
NM_022168.4(IFIH1):c.2465G>A (p.Arg822Gln) |
SNV |
Pathogenic |
189338 |
rs376048533 |
2:163128887-163128887 |
2:162272377-162272377 |
3 |
IFIH1 |
NM_022168.4(IFIH1):c.2336G>A (p.Arg779His) |
SNV |
Pathogenic |
137622 |
rs587777446 |
2:163130423-163130423 |
2:162273913-162273913 |
4 |
IFIH1 |
NM_022168.4(IFIH1):c.716dup (p.Met240fs) |
Duplication |
Likely pathogenic |
587596 |
rs1558875029 |
2:163163271-163163272 |
2:162306761-162306762 |
5 |
IFIH1 |
NM_022168.4(IFIH1):c.986T>C (p.Leu329Pro) |
SNV |
Likely pathogenic |
577615 |
rs923064561 |
2:163144754-163144754 |
2:162288244-162288244 |
6 |
IFIH1 |
NM_022168.4(IFIH1):c.2936T>G (p.Leu979Trp) |
SNV |
Likely pathogenic |
541770 |
rs1553696482 |
2:163123852-163123852 |
2:162267342-162267342 |
7 |
IFIH1 |
NM_022168.4(IFIH1):c.2402G>A (p.Cys801Tyr) |
SNV |
Likely pathogenic |
801772 |
rs1576222807 |
2:163130357-163130357 |
2:162273847-162273847 |
8 |
IFIH1 |
NM_022168.4(IFIH1):c.2863C>G (p.Gln955Glu) |
SNV |
Conflicting interpretations of pathogenicity |
705603 |
rs144455277 |
2:163124024-163124024 |
2:162267514-162267514 |
9 |
IFIH1 |
NM_022168.4(IFIH1):c.2524G>A (p.Glu842Lys) |
SNV |
Conflicting interpretations of pathogenicity |
474952 |
rs79324540 |
2:163128828-163128828 |
2:162272318-162272318 |
10 |
IFIH1 |
NM_022168.4(IFIH1):c.1641+1G>C |
SNV |
Conflicting interpretations of pathogenicity |
261563 |
rs35337543 |
2:163136505-163136505 |
2:162279995-162279995 |
11 |
IFIH1 |
NM_022168.4(IFIH1):c.478A>G (p.Asn160Asp) |
SNV |
Conflicting interpretations of pathogenicity |
625959 |
rs74162075 |
2:163167419-163167419 |
2:162310909-162310909 |
12 |
IFIH1 |
NM_022168.4(IFIH1):c.1066C>A (p.Pro356Thr) |
SNV |
Conflicting interpretations of pathogenicity |
541784 |
rs150317197 |
2:163144674-163144674 |
2:162288164-162288164 |
13 |
IFIH1 |
NM_022168.4(IFIH1):c.2362G>A (p.Ala788Thr) |
SNV |
Conflicting interpretations of pathogenicity |
541788 |
rs148369169 |
2:163130397-163130397 |
2:162273887-162273887 |
14 |
IFIH1 |
NM_022168.4(IFIH1):c.1641+2T>C |
SNV |
Uncertain significance |
834133 |
|
2:163136504-163136504 |
2:162279994-162279994 |
15 |
IFIH1 |
NM_022168.4(IFIH1):c.1486G>A (p.Ala496Thr) |
SNV |
Uncertain significance |
834571 |
|
2:163137876-163137876 |
2:162281366-162281366 |
16 |
IFIH1 |
NM_022168.4(IFIH1):c.1303T>A (p.Ser435Thr) |
SNV |
Uncertain significance |
836508 |
|
2:163138879-163138879 |
2:162282369-162282369 |
17 |
IFIH1 |
NM_022168.4(IFIH1):c.3055del (p.Cys1019fs) |
Deletion |
Uncertain significance |
836873 |
|
2:163123733-163123733 |
2:162267223-162267223 |
18 |
IFIH1 |
NM_022168.4(IFIH1):c.2216_2222del (p.Thr739fs) |
Deletion |
Uncertain significance |
837605 |
|
2:163133279-163133285 |
2:162276769-162276775 |
19 |
IFIH1 |
NM_022168.4(IFIH1):c.1589del (p.Asn530fs) |
Deletion |
Uncertain significance |
837942 |
|
2:163136558-163136558 |
2:162280048-162280048 |
20 |
IFIH1 |
NM_022168.4(IFIH1):c.1558A>G (p.Thr520Ala) |
SNV |
Uncertain significance |
444523 |
rs145641024 |
2:163136589-163136589 |
2:162280079-162280079 |
21 |
IFIH1 |
NM_022168.4(IFIH1):c.2641A>G (p.Ile881Val) |
SNV |
Uncertain significance |
842968 |
|
2:163124763-163124763 |
2:162268253-162268253 |
22 |
IFIH1 |
NM_022168.4(IFIH1):c.2788A>G (p.Asn930Asp) |
SNV |
Uncertain significance |
843149 |
|
2:163124616-163124616 |
2:162268106-162268106 |
23 |
IFIH1 |
NM_022168.4(IFIH1):c.1222G>A (p.Asp408Asn) |
SNV |
Uncertain significance |
844159 |
|
2:163138960-163138960 |
2:162282450-162282450 |
24 |
IFIH1 |
NM_022168.4(IFIH1):c.1710G>A (p.Met570Ile) |
SNV |
Uncertain significance |
845324 |
|
2:163134770-163134770 |
2:162278260-162278260 |
25 |
IFIH1 |
NM_022168.4(IFIH1):c.556C>T (p.Arg186Cys) |
SNV |
Uncertain significance |
845631 |
|
2:163167341-163167341 |
2:162310831-162310831 |
26 |
IFIH1 |
NM_022168.4(IFIH1):c.145A>G (p.Thr49Ala) |
SNV |
Uncertain significance |
848148 |
|
2:163174673-163174673 |
2:162318163-162318163 |
27 |
IFIH1 |
NM_022168.4(IFIH1):c.1853G>A (p.Arg618Gln) |
SNV |
Uncertain significance |
849039 |
|
2:163134116-163134116 |
2:162277606-162277606 |
28 |
IFIH1 |
NM_022168.4(IFIH1):c.2191G>T (p.Ala731Ser) |
SNV |
Uncertain significance |
849273 |
|
2:163133310-163133310 |
2:162276800-162276800 |
29 |
IFIH1 |
NM_022168.4(IFIH1):c.285G>A (p.Met95Ile) |
SNV |
Uncertain significance |
851462 |
|
2:163174533-163174533 |
2:162318023-162318023 |
30 |
IFIH1 |
NM_022168.4(IFIH1):c.1745C>T (p.Ala582Val) |
SNV |
Uncertain significance |
852349 |
|
2:163134735-163134735 |
2:162278225-162278225 |
31 |
IFIH1 |
NM_022168.4(IFIH1):c.2616+6G>A |
SNV |
Uncertain significance |
852801 |
|
2:163128730-163128730 |
2:162272220-162272220 |
32 |
IFIH1 |
NM_022168.4(IFIH1):c.2259T>G (p.His753Gln) |
SNV |
Uncertain significance |
855667 |
|
2:163133242-163133242 |
2:162276732-162276732 |
33 |
IFIH1 |
NM_022168.4(IFIH1):c.1874A>T (p.His625Leu) |
SNV |
Uncertain significance |
855752 |
|
2:163134095-163134095 |
2:162277585-162277585 |
34 |
IFIH1 |
NM_022168.4(IFIH1):c.1927G>T (p.Asp643Tyr) |
SNV |
Uncertain significance |
855766 |
|
2:163134042-163134042 |
2:162277532-162277532 |
35 |
IFIH1 |
NM_022168.4(IFIH1):c.1535A>G (p.Asn512Ser) |
SNV |
Uncertain significance |
857407 |
|
2:163136612-163136612 |
2:162280102-162280102 |
36 |
IFIH1 |
NM_022168.4(IFIH1):c.2428G>A (p.Val810Ile) |
SNV |
Uncertain significance |
857685 |
|
2:163130331-163130331 |
2:162273821-162273821 |
37 |
IFIH1 |
NM_022168.4(IFIH1):c.2035_2036del (p.Leu679fs) |
Deletion |
Uncertain significance |
638319 |
rs774076578 |
2:163133933-163133934 |
2:162277423-162277424 |
38 |
IFIH1 |
NM_022168.4(IFIH1):c.229C>A (p.Arg77=) |
SNV |
Uncertain significance |
858398 |
|
2:163174589-163174589 |
2:162318079-162318079 |
39 |
IFIH1 |
NM_022168.4(IFIH1):c.2561T>G (p.Met854Arg) |
SNV |
Uncertain significance |
858942 |
|
2:163128791-163128791 |
2:162272281-162272281 |
40 |
IFIH1 |
NM_022168.4(IFIH1):c.217C>T (p.Leu73Phe) |
SNV |
Uncertain significance |
859413 |
|
2:163174601-163174601 |
2:162318091-162318091 |
41 |
IFIH1 |
NM_022168.4(IFIH1):c.1153T>C (p.Tyr385His) |
SNV |
Uncertain significance |
860770 |
|
2:163139029-163139029 |
2:162282519-162282519 |
42 |
IFIH1 |
NM_022168.4(IFIH1):c.2642T>C (p.Ile881Thr) |
SNV |
Uncertain significance |
860887 |
|
2:163124762-163124762 |
2:162268252-162268252 |
43 |
IFIH1 |
NM_022168.4(IFIH1):c.2392A>G (p.Ile798Val) |
SNV |
Uncertain significance |
861040 |
|
2:163130367-163130367 |
2:162273857-162273857 |
44 |
IFIH1 |
NM_022168.4(IFIH1):c.1962T>G (p.Cys654Trp) |
SNV |
Uncertain significance |
863053 |
|
2:163134007-163134007 |
2:162277497-162277497 |
45 |
IFIH1 |
NM_022168.4(IFIH1):c.643G>A (p.Val215Ile) |
SNV |
Uncertain significance |
863462 |
|
2:163163345-163163345 |
2:162306835-162306835 |
46 |
IFIH1 |
NM_022168.4(IFIH1):c.1120C>T (p.Arg374Cys) |
SNV |
Uncertain significance |
863575 |
|
2:163139062-163139062 |
2:162282552-162282552 |
47 |
IFIH1 |
NM_022168.4(IFIH1):c.2761C>T (p.His921Tyr) |
SNV |
Uncertain significance |
863672 |
|
2:163124643-163124643 |
2:162268133-162268133 |
48 |
IFIH1 |
NM_022168.4(IFIH1):c.1063G>T (p.Glu355Ter) |
SNV |
Uncertain significance |
863752 |
|
2:163144677-163144677 |
2:162288167-162288167 |
49 |
IFIH1 |
NM_022168.4(IFIH1):c.2101del (p.Lys700_Leu701insTer) |
Deletion |
Uncertain significance |
864715 |
|
2:163133400-163133400 |
2:162276890-162276890 |
50 |
IFIH1 |
NM_022168.4(IFIH1):c.2459G>C (p.Arg820Pro) |
SNV |
Uncertain significance |
587614 |
rs74162087 |
2:163128893-163128893 |
2:162272383-162272383 |