1 |
TUBB1 |
NM_030773.4(TUBB1):c.479C>T (p.Pro160Leu) |
SNV |
Pathogenic
|
586964 |
rs759117911 |
GRCh37: 20:57598961-57598961 GRCh38: 20:59023906-59023906 |
2 |
TUBB1 |
NM_030773.4(TUBB1):c.318C>G (p.Tyr106Ter) |
SNV |
Pathogenic
|
586965 |
rs560702757 |
GRCh37: 20:57598800-57598800 GRCh38: 20:59023745-59023745 |
3 |
TG |
NM_003235.5(TG):c.638+1G>A |
SNV |
Pathogenic
|
12706 |
rs1587178555 |
GRCh37: 8:133885467-133885467 GRCh38: 8:132873222-132873222 |
4 |
TG |
NM_003235.5(TG):c.6701C>A (p.Ala2234Asp) |
SNV |
Pathogenic
|
988639 |
rs370991693 |
GRCh37: 8:134030161-134030161 GRCh38: 8:133017916-133017916 |
5 |
TG |
NM_003235.5(TG):c.5182T>C (p.Cys1728Arg) |
SNV |
Pathogenic
|
988643 |
rs376200169 |
GRCh37: 8:133953736-133953736 GRCh38: 8:132941491-132941491 |
6 |
TPO |
NM_001206744.2(TPO):c.866T>C (p.Phe289Ser) |
SNV |
Pathogenic
|
988647 |
rs1670028028 |
GRCh37: 2:1480904-1480904 GRCh38: 2:1477132-1477132 |
7 |
PAX8-AS1, PAX8 |
NM_003466.4(PAX8):c.101T>A (p.Ile34Asn) |
SNV |
Pathogenic
|
988648 |
rs1691361089 |
GRCh37: 2:114004421-114004421 GRCh38: 2:113246844-113246844 |
8 |
PAX8-AS1, PAX8 |
NM_003466.4(PAX8):c.397C>T (p.Arg133Trp) |
SNV |
Pathogenic
|
988649 |
rs1690970101 |
GRCh37: 2:114000348-114000348 GRCh38: 2:113242771-113242771 |
9 |
SLC5A5 |
NM_000453.3(SLC5A5):c.1183G>A (p.Gly395Arg) |
SNV |
Pathogenic
|
7670 |
rs121909180 |
GRCh37: 19:17992969-17992969 GRCh38: 19:17882160-17882160 |
10 |
TG |
NM_003235.5(TG):c.4588C>T (p.Arg1530Ter) |
SNV |
Pathogenic
|
12691 |
rs121912646 |
GRCh37: 8:133935642-133935642 GRCh38: 8:132923397-132923397 |
11 |
TG |
NM_003235.5(TG):c.649dup (p.Ala217fs) |
DUP |
Pathogenic
|
988641 |
rs1814692109 |
GRCh37: 8:133894117-133894118 GRCh38: 8:132881872-132881873 |
12 |
PAX8-AS1, PAX8 |
NM_003466.4(PAX8):c.658C>T (p.Arg220Ter) |
SNV |
Pathogenic
|
988652 |
rs1690853952 |
GRCh37: 2:113999247-113999247 GRCh38: 2:113241670-113241670 |
13 |
DUOX2 |
NM_001363711.2(DUOX2):c.598G>A (p.Gly200Arg) |
SNV |
Pathogenic
|
888352 |
rs2467827 |
GRCh37: 15:45403699-45403699 GRCh38: 15:45111501-45111501 |
14 |
TG |
NM_003235.5(TG):c.886C>T (p.Arg296Ter) |
SNV |
Pathogenic
|
12695 |
rs121912648 |
GRCh37: 8:133894854-133894854 GRCh38: 8:132882609-132882609 |
15 |
DUOX2 |
NM_001363711.2(DUOX2):c.3155G>A (p.Cys1052Tyr) |
SNV |
Pathogenic
|
631732 |
rs76343591 |
GRCh37: 15:45392277-45392277 GRCh38: 15:45100079-45100079 |
16 |
DUOXA2 |
NM_207581.4(DUOXA2):c.205+2T>C |
SNV |
Pathogenic
|
265105 |
rs201506037 |
GRCh37: 15:45408056-45408056 GRCh38: 15:45115858-45115858 |
17 |
DUOXA2 |
NM_207581.4(DUOXA2):c.463C>G (p.Leu155Val) |
SNV |
Pathogenic
|
372358 |
rs201808443 |
GRCh37: 15:45408836-45408836 GRCh38: 15:45116638-45116638 |
18 |
TSHR |
NM_000369.5(TSHR):c.1349G>A (p.Arg450His) |
SNV |
Pathogenic
|
225505 |
rs189261858 |
GRCh37: 14:81609751-81609751 GRCh38: 14:81143407-81143407 |
19 |
TUBB1 |
NM_030773.4(TUBB1):c.35del (p.Cys12fs) |
DEL |
Pathogenic
|
586966 |
rs773248042 |
GRCh37: 20:57594612-57594612 GRCh38: 20:59019557-59019557 |
20 |
DUOX2 |
NM_001363711.2(DUOX2):c.2895_2898del (p.Phe966fs) |
DEL |
Pathogenic
|
189229 |
rs530719719 |
GRCh37: 15:45393426-45393429 GRCh38: 15:45101228-45101231 |
21 |
DUOX2 |
NM_001363711.2(DUOX2):c.602dup (p.Gln202fs) |
DUP |
Likely Pathogenic
|
279800 |
rs567500345 |
GRCh37: 15:45403694-45403695 GRCh38: 15:45111496-45111497 |
22 |
TG |
NM_003235.5(TG):c.5299_5301del (p.Asp1767del) |
DEL |
Likely Pathogenic
|
712030 |
rs112749206 |
GRCh37: 8:133961086-133961088 GRCh38: 8:132948841-132948843 |
23 |
DUOX2 |
NM_001363711.2(DUOX2):c.3416-1G>A |
SNV |
Likely Pathogenic
|
1120118 |
|
GRCh37: 15:45391681-45391681 GRCh38: 15:45099483-45099483 |
24 |
TPO |
NM_001206744.2(TPO):c.1768+1_1768+9dup |
DUP |
Likely Pathogenic
|
988651 |
rs1385139268 |
GRCh37: 2:1491756-1491757 GRCh38: 2:1487984-1487985 |
25 |
TG |
NM_003235.5(TG):c.2234dup (p.Leu746fs) |
DUP |
Likely Pathogenic
|
988644 |
rs1815680018 |
GRCh37: 8:133900285-133900286 GRCh38: 8:132888040-132888041 |
26 |
TG |
NM_003235.5(TG):c.3452del (p.Val1151fs) |
DEL |
Likely Pathogenic
|
988645 |
rs766130576 |
GRCh37: 8:133913616-133913616 GRCh38: 8:132901371-132901371 |
27 |
TG |
NM_003235.5(TG):c.2134dup (p.Ala712fs) |
DUP |
Likely Pathogenic
|
988640 |
rs1815591671 |
GRCh37: 8:133899749-133899750 GRCh38: 8:132887504-132887505 |
28 |
SLC26A7 |
NM_052832.4(SLC26A7):c.1498C>T (p.Gln500Ter) |
SNV |
Likely Pathogenic
|
828176 |
rs774517670 |
GRCh37: 8:92378817-92378817 GRCh38: 8:91366589-91366589 |
29 |
TPO |
NM_001206744.2(TPO):c.1558C>T (p.His520Tyr) |
SNV |
Likely Pathogenic
|
374178 |
rs1057518950 |
GRCh37: 2:1488587-1488587 GRCh38: 2:1484815-1484815 |
30 |
DUOX2 |
NM_001363711.2(DUOX2):c.3416-7C>G |
SNV |
Uncertain Significance
|
316152 |
rs886051192 |
GRCh37: 15:45391687-45391687 GRCh38: 15:45099489-45099489 |
31 |
IYD |
NM_203395.3(IYD):c.*1382CT[3] |
MICROSAT |
Uncertain Significance
|
355712 |
rs886061172 |
GRCh37: 6:150720755-150720756 GRCh38: 6:150399619-150399620 |
32 |
TPO |
NM_001206744.2(TPO):c.1566T>A (p.Ala522=) |
SNV |
Uncertain Significance
|
331319 |
rs17091745 |
GRCh37: 2:1488595-1488595 GRCh38: 2:1484823-1484823 |
33 |
DUOX2 |
NM_001363711.2(DUOX2):c.944-10C>T |
SNV |
Uncertain Significance
|
316179 |
rs756654827 |
GRCh37: 15:45402732-45402732 GRCh38: 15:45110534-45110534 |
34 |
IYD |
NM_203395.3(IYD):c.*3405del |
DEL |
Uncertain Significance
|
355753 |
rs770486449 |
GRCh37: 6:150722775-150722775 GRCh38: 6:150401639-150401639 |
35 |
TPO |
NM_001206744.2(TPO):c.*63dup |
DUP |
Uncertain Significance
|
331643 |
rs749486726 |
GRCh37: 2:1546305-1546306 GRCh38: 2:1542533-1542534 |
36 |
TSHR |
NM_000369.5(TSHR):c.*1742G>T |
SNV |
Uncertain Significance
|
314723 |
rs886050861 |
GRCh37: 14:81612439-81612439 GRCh38: 14:81146095-81146095 |
37 |
PAX8 |
NM_003466.4(PAX8):c.*2503_*2504dup |
DUP |
Uncertain Significance
|
330852 |
rs751887254 |
GRCh37: 2:113973605-113973606 GRCh38: 2:113216028-113216029 |
38 |
IYD |
NM_203395.3(IYD):c.*5785dup |
DUP |
Uncertain Significance
|
355782 |
rs761967547 |
GRCh37: 6:150725154-150725155 GRCh38: 6:150404018-150404019 |
39 |
IYD |
NM_203395.3(IYD):c.*461del |
DEL |
Uncertain Significance
|
355691 |
rs61597872 |
GRCh37: 6:150719823-150719823 GRCh38: 6:150398687-150398687 |
40 |
IYD |
NM_203395.3(IYD):c.*6375del |
DEL |
Uncertain Significance
|
355791 |
rs886061184 |
GRCh37: 6:150725748-150725748 GRCh38: 6:150404612-150404612 |
41 |
IYD |
NM_203395.3(IYD):c.*672_*673delinsTG |
INDEL |
Uncertain Significance
|
355700 |
rs374913437 |
GRCh37: 6:150720045-150720046 GRCh38: 6:150398909-150398910 |
42 |
TSHR |
NM_000369.5(TSHR):c.*137del |
DEL |
Uncertain Significance
|
314702 |
rs886050856 |
GRCh37: 14:81610831-81610831 GRCh38: 14:81144487-81144487 |
43 |
DUOX2 |
NM_001363711.2(DUOX2):c.314G>A (p.Gly105Glu) |
SNV |
Uncertain Significance
|
316192 |
rs556820857 |
GRCh37: 15:45404763-45404763 GRCh38: 15:45112565-45112565 |
44 |
IYD |
NM_203395.2(IYD):c.-104T>A |
SNV |
Uncertain Significance
|
355671 |
rs886061163 |
GRCh37: 6:150690064-150690064 GRCh38: 6:150368928-150368928 |
45 |
TSHR |
NM_000369.5(TSHR):c.*1154dup |
DUP |
Likely Benign
|
314715 |
rs3214569 |
GRCh37: 14:81611850-81611851 GRCh38: 14:81145506-81145507 |
46 |
TPO |
NM_001206744.2(TPO):c.2007-9_2007-7del |
DEL |
Likely Benign
|
331361 |
rs28991288 |
GRCh37: 2:1499750-1499752 GRCh38: 2:1495978-1495980 |
47 |
IYD |
NM_203395.3(IYD):c.*460_*461del |
DEL |
Likely Benign
|
355692 |
rs61597872 |
GRCh37: 6:150719823-150719824 GRCh38: 6:150398687-150398688 |
48 |
TG |
NM_003235.5(TG):c.7859G>A (p.Gly2620Asp) |
SNV |
Likely Benign
|
988642 |
rs978923522 |
GRCh37: 8:134128957-134128957 GRCh38: 8:133116713-133116713 |
49 |
SLC26A4 |
NM_000441.2(SLC26A4):c.199A>C (p.Thr67Pro) |
SNV |
Benign
|
988646 |
rs1174526823 |
GRCh37: 7:107303775-107303775 GRCh38: 7:107663330-107663330 |
50 |
IYD |
NM_203395.3(IYD):c.*4676_*4677insGGGGGTGATTCACCT |
INSERT |
Benign
|
355766 |
rs11268976 |
GRCh37: 6:150724047-150724048 GRCh38: 6:150402911-150402912 |