1 |
TSHR |
NM_000369.5(TSHR):c.500T>A (p.Ile167Asn) |
SNV |
Pathogenic
|
6434 |
rs121908862 |
GRCh37: 14:81558907-81558907 GRCh38: 14:81092563-81092563 |
2 |
TSHR |
NM_000369.5(TSHR):c.1798T>C (p.Cys600Arg) |
SNV |
Pathogenic
|
6458 |
rs121908884 |
GRCh37: 14:81610200-81610200 GRCh38: 14:81143856-81143856 |
3 |
TSHR |
NM_000369.5(TSHR):c.1400T>C (p.Leu467Pro) |
SNV |
Pathogenic
|
6459 |
rs121908885 |
GRCh37: 14:81609802-81609802 GRCh38: 14:81143458-81143458 |
4 |
TSHR |
NM_000369.5(TSHR):c.545+3G>C |
SNV |
Pathogenic
|
6461 |
rs786205080 |
GRCh37: 14:81558955-81558955 GRCh38: 14:81092611-81092611 |
5 |
TSHR |
NM_000369.5(TSHR):c.928C>T (p.Arg310Cys) |
SNV |
Pathogenic
|
6456 |
rs121908882 |
GRCh37: 14:81609330-81609330 GRCh38: 14:81142986-81142986 |
6 |
TSHR |
NM_000369.5(TSHR):c.1430C>T (p.Thr477Ile) |
SNV |
Pathogenic
|
6455 |
rs121908881 |
GRCh37: 14:81609832-81609832 GRCh38: 14:81143488-81143488 |
7 |
TSHR |
NM_000369.5(TSHR):c.1170T>G (p.Cys390Trp) |
SNV |
Pathogenic
|
6444 |
rs121908871 |
GRCh37: 14:81609572-81609572 GRCh38: 14:81143228-81143228 |
8 |
TSHR |
NM_000369.5(TSHR):c.1575C>A (p.Phe525Leu) |
SNV |
Pathogenic
|
6443 |
rs121908870 |
GRCh37: 14:81609977-81609977 GRCh38: 14:81143633-81143633 |
9 |
CEP128, TSHR |
NM_000369.5(TSHR):c.122G>C (p.Cys41Ser) |
SNV |
Pathogenic
|
6442 |
rs121908869 |
GRCh37: 14:81422146-81422146 GRCh38: 14:80955802-80955802 |
10 |
TSHR |
NM_000369.5(TSHR):c.1228G>A (p.Asp410Asn) |
SNV |
Pathogenic
|
6441 |
rs121908868 |
GRCh37: 14:81609630-81609630 GRCh38: 14:81143286-81143286 |
11 |
TSHR |
NM_000369.5(TSHR):c.970C>T (p.Gln324Ter) |
SNV |
Pathogenic
|
6440 |
rs121908867 |
GRCh37: 14:81609372-81609372 GRCh38: 14:81143028-81143028 |
12 |
TSHR |
NM_000369.5(TSHR):c.326G>A (p.Arg109Gln) |
SNV |
Pathogenic
|
6438 |
rs121908865 |
GRCh37: 14:81554306-81554306 GRCh38: 14:81087962-81087962 |
13 |
TSHR |
NM_000369.5(TSHR):c.545+5G>T |
SNV |
Pathogenic
|
917858 |
rs1888838395 |
GRCh37: 14:81558957-81558957 GRCh38: 14:81092613-81092613 |
14 |
TSHR |
NM_000369.5(TSHR):c.1217_1234delinsCACG (p.Asn406fs) |
INDEL |
Pathogenic
|
6447 |
|
GRCh37: 14:81609619-81609636 GRCh38: 14:81143275-81143292 |
15 |
TSHR |
NM_000369.5(TSHR):c.1637G>A (p.Trp546Ter) |
SNV |
Pathogenic
|
6439 |
rs121908866 |
GRCh37: 14:81610039-81610039 GRCh38: 14:81143695-81143695 |
16 |
TSHR |
NM_000369.5(TSHR):c.1963_1964del (p.Thr655fs) |
DEL |
Pathogenic
|
1204435 |
|
GRCh37: 14:81610364-81610365 GRCh38: 14:81144020-81144021 |
17 |
TSHR |
NM_000369.5(TSHR):c.484C>G (p.Pro162Ala) |
SNV |
Pathogenic
|
6435 |
rs121908863 |
GRCh37: 14:81558891-81558891 GRCh38: 14:81092547-81092547 |
18 |
TSHR |
NM_000369.5(TSHR):c.1349G>A (p.Arg450His) |
SNV |
Pathogenic
|
225505 |
rs189261858 |
GRCh37: 14:81609751-81609751 GRCh38: 14:81143407-81143407 |
19 |
TSHR |
NM_000369.5(TSHR):c.1777del (p.Ala593fs) |
DEL |
Likely Pathogenic
|
1687384 |
|
GRCh37: 14:81610179-81610179 GRCh38: 14:81143835-81143835 |
20 |
TSHR |
NM_000369.5(TSHR):c.1657G>A (p.Ala553Thr) |
SNV |
Likely Pathogenic
|
6445 |
rs121908872 |
GRCh37: 14:81610059-81610059 GRCh38: 14:81143715-81143715 |
21 |
TSHR |
NM_000369.5(TSHR):c.1960A>T (p.Ile654Phe) |
SNV |
Likely Pathogenic
|
917861 |
rs767239688 |
GRCh37: 14:81610362-81610362 GRCh38: 14:81144018-81144018 |
22 |
TSHR |
NM_000369.5(TSHR):c.545+2_545+3del |
MICROSAT |
Likely Pathogenic
|
189249 |
rs786204790 |
GRCh37: 14:81558952-81558953 GRCh38: 14:81092608-81092609 |
23 |
TSHR |
NM_000369.5(TSHR):c.202C>T (p.Pro68Ser) |
SNV |
Conflicting Interpretations Of Pathogenicity
|
437071 |
rs142063461 |
GRCh37: 14:81528523-81528523 GRCh38: 14:81062179-81062179 |
24 |
TSHR |
NM_000369.5(TSHR):c.735C>G (p.Gly245=) |
SNV |
Uncertain Significance
|
706506 |
rs146738314 |
GRCh37: 14:81606065-81606065 GRCh38: 14:81139721-81139721 |
25 |
TSHR |
NM_000369.5(TSHR):c.765A>G (p.Arg255=) |
SNV |
Uncertain Significance
|
726776 |
rs777128238 |
GRCh37: 14:81606095-81606095 GRCh38: 14:81139751-81139751 |
26 |
TSHR |
NM_000369.5(TSHR):c.1600C>T (p.Arg534Cys) |
SNV |
Uncertain Significance
|
135394 |
rs150602845 |
GRCh37: 14:81610002-81610002 GRCh38: 14:81143658-81143658 |
27 |
TSHR |
NM_000369.5(TSHR):c.929G>A (p.Arg310His) |
SNV |
Uncertain Significance
|
135401 |
rs139286618 |
GRCh37: 14:81609331-81609331 GRCh38: 14:81142987-81142987 |
28 |
TSHR |
NM_000369.5(TSHR):c.1206C>T (p.Ser402=) |
SNV |
Uncertain Significance
|
745091 |
rs150524100 |
GRCh37: 14:81609608-81609608 GRCh38: 14:81143264-81143264 |
29 |
TSHR, CEP128 |
NM_000369.2(TSHR):c.-166C>T |
SNV |
Uncertain Significance
|
885227 |
rs1180169266 |
GRCh37: 14:81421859-81421859 GRCh38: 14:80955515-80955515 |
30 |
TSHR, CEP128 |
NM_000369.2(TSHR):c.-102C>T |
SNV |
Uncertain Significance
|
885228 |
rs1886616129 |
GRCh37: 14:81421923-81421923 GRCh38: 14:80955579-80955579 |
31 |
TSHR |
NM_000369.5(TSHR):c.881+3A>G |
SNV |
Uncertain Significance
|
218440 |
rs186091357 |
GRCh37: 14:81606214-81606214 GRCh38: 14:81139870-81139870 |
32 |
TSHR |
NM_000369.5(TSHR):c.1290G>A (p.Leu430=) |
SNV |
Uncertain Significance
|
314697 |
rs375393735 |
GRCh37: 14:81609692-81609692 GRCh38: 14:81143348-81143348 |
33 |
TSHR |
NM_000369.5(TSHR):c.*400T>C |
SNV |
Uncertain Significance
|
314707 |
rs143040631 |
GRCh37: 14:81611097-81611097 GRCh38: 14:81144753-81144753 |
34 |
TSHR |
NM_000369.5(TSHR):c.*182G>T |
SNV |
Uncertain Significance
|
314704 |
rs373305430 |
GRCh37: 14:81610879-81610879 GRCh38: 14:81144535-81144535 |
35 |
TPO |
NM_001206744.2(TPO):c.650A>G (p.Asn217Ser) |
SNV |
Uncertain Significance
|
331310 |
rs148683218 |
GRCh37: 2:1459885-1459885 GRCh38: 2:1456113-1456113 |
36 |
TSHR |
NM_000369.5(TSHR):c.1556G>A (p.Arg519His) |
SNV |
Uncertain Significance
|
886255 |
rs780018604 |
GRCh37: 14:81609958-81609958 GRCh38: 14:81143614-81143614 |
37 |
CEP128, TSHR |
NM_000369.5(TSHR):c.100G>A (p.Glu34Lys) |
SNV |
Uncertain Significance
|
886125 |
rs45499704 |
GRCh37: 14:81422124-81422124 GRCh38: 14:80955780-80955780 |
38 |
TSHR |
NM_000369.5(TSHR):c.357T>A (p.Pro119=) |
SNV |
Uncertain Significance
|
314692 |
rs144084915 |
GRCh37: 14:81554337-81554337 GRCh38: 14:81087993-81087993 |
39 |
TSHR |
NM_000369.5(TSHR):c.2161G>T (p.Val721Phe) |
SNV |
Uncertain Significance
|
135399 |
rs61745409 |
GRCh37: 14:81610563-81610563 GRCh38: 14:81144219-81144219 |
40 |
TSHR |
NM_000369.5(TSHR):c.*1317C>A |
SNV |
Uncertain Significance
|
314718 |
rs886050859 |
GRCh37: 14:81612014-81612014 GRCh38: 14:81145670-81145670 |
41 |
TSHR |
NM_000369.5(TSHR):c.692+3G>A |
SNV |
Uncertain Significance
|
314695 |
rs552128204 |
GRCh37: 14:81574799-81574799 GRCh38: 14:81108455-81108455 |
42 |
TSHR |
NM_000369.5(TSHR):c.*1580A>G |
SNV |
Uncertain Significance
|
314720 |
rs189084497 |
GRCh37: 14:81612277-81612277 GRCh38: 14:81145933-81145933 |
43 |
TSHR |
NM_000369.5(TSHR):c.*116G>A |
SNV |
Uncertain Significance
|
314700 |
rs554104473 |
GRCh37: 14:81610813-81610813 GRCh38: 14:81144469-81144469 |
44 |
CEP128, TSHR |
NM_000369.5(TSHR):c.-60G>A |
SNV |
Uncertain Significance
|
314689 |
rs201252762 |
GRCh37: 14:81421965-81421965 GRCh38: 14:80955621-80955621 |
45 |
CEP128, TSHR |
NM_000369.5(TSHR):c.157A>C (p.Ser53Arg) |
SNV |
Uncertain Significance
|
314690 |
rs886050853 |
GRCh37: 14:81422181-81422181 GRCh38: 14:80955837-80955837 |
46 |
TSHR |
NM_000369.5(TSHR):c.*1106G>T |
SNV |
Uncertain Significance
|
314713 |
rs150923034 |
GRCh37: 14:81611803-81611803 GRCh38: 14:81145459-81145459 |
47 |
TSHR |
NM_000369.5(TSHR):c.*1946C>T |
SNV |
Uncertain Significance
|
314726 |
rs187891791 |
GRCh37: 14:81612643-81612643 GRCh38: 14:81146299-81146299 |
48 |
TSHR |
NM_000369.5(TSHR):c.615-6C>G |
SNV |
Uncertain Significance
|
314694 |
rs886050854 |
GRCh37: 14:81574713-81574713 GRCh38: 14:81108369-81108369 |
49 |
TSHR |
NM_000369.5(TSHR):c.*319G>A |
SNV |
Uncertain Significance
|
314706 |
rs886050857 |
GRCh37: 14:81611016-81611016 GRCh38: 14:81144672-81144672 |
50 |
TSHR |
NM_000369.5(TSHR):c.*728A>G |
SNV |
Uncertain Significance
|
314710 |
rs73342245 |
GRCh37: 14:81611425-81611425 GRCh38: 14:81145081-81145081 |