1 |
MIB1 |
NM_020774.4(MIB1):c.2827G>T (p.Val943Phe) |
SNV |
Pathogenic
|
40091 |
rs200035428 |
GRCh37: 18:19438554-19438554 GRCh38: 18:21858593-21858593 |
2 |
MIB1 |
NM_020774.4(MIB1):c.1588C>T (p.Arg530Ter) |
SNV |
Likely Pathogenic
|
40092 |
rs201850378 |
GRCh37: 18:19395685-19395685 GRCh38: 18:21815724-21815724 |
3 |
MIB1 |
NM_020774.4(MIB1):c.2878C>T (p.Gln960Ter) |
SNV |
Likely Pathogenic
|
1028190 |
rs1430105900 |
GRCh37: 18:19438605-19438605 GRCh38: 18:21858644-21858644 |
4 |
MIB1 |
NM_020774.4(MIB1):c.2039del (p.Gln680fs) |
DEL |
Likely Pathogenic
|
1334019 |
|
GRCh37: 18:19423168-19423168 GRCh38: 18:21843207-21843207 |
5 |
MIB1 |
NM_020774.4(MIB1):c.2779+1G>C |
SNV |
Uncertain Significance
|
1032855 |
rs570099048 |
GRCh37: 18:19437205-19437205 GRCh38: 18:21857244-21857244 |
6 |
MIB1 |
NM_020774.4(MIB1):c.442G>A (p.Ala148Thr) |
SNV |
Uncertain Significance
|
1699081 |
|
GRCh37: 18:19348624-19348624 GRCh38: 18:21768663-21768663 |
7 |
MIB1 |
NM_020774.4(MIB1):c.1207G>T (p.Ala403Ser) |
SNV |
Uncertain Significance
|
518272 |
rs1555692389 |
GRCh37: 18:19378159-19378159 GRCh38: 18:21798198-21798198 |
8 |
MIB1 |
NM_020774.4(MIB1):c.3007A>G (p.Ile1003Val) |
SNV |
Uncertain Significance
|
450378 |
rs150652745 |
GRCh37: 18:19444613-19444613 GRCh38: 18:21864652-21864652 |
9 |
MIB1 |
NM_020774.4(MIB1):c.636+7A>C |
SNV |
Likely Benign
|
392518 |
rs765948951 |
GRCh37: 18:19353696-19353696 GRCh38: 18:21773735-21773735 |
10 |
MIB1 |
NM_020774.4(MIB1):c.138G>A (p.Glu46=) |
SNV |
Likely Benign
|
518270 |
rs376396687 |
GRCh37: 18:19321682-19321682 GRCh38: 18:21741721-21741721 |
11 |
MIB1 |
NM_020774.4(MIB1):c.1470C>T (p.Val490=) |
SNV |
Likely Benign
|
522210 |
rs141701856 |
GRCh37: 18:19383966-19383966 GRCh38: 18:21804005-21804005 |
12 |
MIB1 |
NM_020774.4(MIB1):c.843A>T (p.Thr281=) |
SNV |
Likely Benign
|
506382 |
rs137957940 |
GRCh37: 18:19359581-19359581 GRCh38: 18:21779620-21779620 |
13 |
MIB1 |
NM_020774.4(MIB1):c.2337C>T (p.Leu779=) |
SNV |
Likely Benign
|
507622 |
rs146430244 |
GRCh37: 18:19427030-19427030 GRCh38: 18:21847069-21847069 |
14 |
MIB1 |
NM_020774.4(MIB1):c.1092+3A>G |
SNV |
Likely Benign
|
518271 |
rs372212766 |
GRCh37: 18:19371521-19371521 GRCh38: 18:21791560-21791560 |
15 |
MIB1 |
NM_020774.4(MIB1):c.1830-18T>C |
SNV |
Benign
|
518273 |
rs201761957 |
GRCh37: 18:19418308-19418308 GRCh38: 18:21838347-21838347 |
16 |
MIB1 |
NM_020774.4(MIB1):c.1479+18A>G |
SNV |
Benign
|
384817 |
rs12605999 |
GRCh37: 18:19383993-19383993 GRCh38: 18:21804032-21804032 |
17 |
MIB1 |
NM_020774.4(MIB1):c.1962+17A>G |
SNV |
Benign
|
384701 |
rs139079482 |
GRCh37: 18:19418475-19418475 GRCh38: 18:21838514-21838514 |
18 |
MIB1 |
NM_020774.4(MIB1):c.2393+10A>G |
SNV |
Benign
|
384702 |
rs11877131 |
GRCh37: 18:19427096-19427096 GRCh38: 18:21847135-21847135 |
19 |
MIB1 |
NM_020774.4(MIB1):c.1963-6G>A |
SNV |
Benign
|
522298 |
rs186680702 |
GRCh37: 18:19423086-19423086 GRCh38: 18:21843125-21843125 |