All Published TSH Receptor Mutations

758
Glu
Lys
c.2272G>A
loss
family
10
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
1
745
Ser
Cys
c.2234C>G
loss
sporadic
10
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
1
700
Lys
Glu
c.2098A>G
loss
sporadic
10
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
1
696
Phe
Cys
c.2087T>G
loss
family
10
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
1
691
Ile
Phe
c.2071A>T
gain
family
10
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
0.8
0.7
1.1
0.9
0.9
1
0.7±0.1
2
689
Val
Gly
c.2066T>G
loss
family
10
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
3
684
Ala
Asp
c.2051C>A
loss
family
10
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
1
677
Leu
Val
c.2029C>G
gain
carcinoma
10
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
1.0-3.4
0.7
1.0
0.2
nd
0.6
1
1.4±0.6
2
672
Cys
Thr
c.2015G>A
gain
family
10
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
2.2-3.3
0.5-0.7
n.d.
n.d.
-
0.4
1
4.2±0.5
1-3
672
Cys
Trp
c.2016T>G
gain
family
10
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
ND
ND
ND
ND
ND
ND
1
670
Asn
Ser
c.2009A>G
gain
family
10
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
1.7-2.4
0.6
n.d.
n.d.
-
1.0
1
0.5±0.1;2.5
2
670
Asp
Ser
c.2009A>G
gain
sporadic
10
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
1.7-2.4
0.6
n.d.
n.d.
n.d.
1
1
0.5±0.1;2.5
668
Pro
Leu
c.2003C>T
loss
sporadic
10
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
1
666
Phe
Leu
c.1996C>T
gain
somatic
10
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
0.6
0.9
0.8
0.2
nd
1.0
1
0.8 ± 0.1
2
665
Leu
Phe
TTC
gain
family
10
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
3
1.2
1
1.1
nd
1.02
1
2.3
661
Ile
Stop
loss
sporadic
10
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
1
656
Val
Phe
c.1966G>T
gain
somatic
10
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
4.1-7.1
0.8-1.1
0.9
0.5-1.0
-
0.8-1.0
4
4.1 ± 0.9
1,2,6,5
656
Val
Phe
c.1966G>T
gain
somatic
10
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
4.1-7.1
0.8-1.1
0.9
0.5-1.0
-
0.9-1.0
1
4.1 ± 0.9
655
Thr
Stop
del655
loss
family
10
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
nd
nd
nd
nd
nd
nd
4
655
Thr
Cys
T655CfsX656/WT
loss
family
10
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
1
653
Leu
Val
c.1957C>g
loss
family
10
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
2
650
Asn
Tyr
c.1948A>T
gain
family
10
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
2.6
1.0
1.0
n.d.
~
n.d.
1
1
647
Ala
Val
c.1940C>T
gain
somatic
10
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
ND
ND
ND
ND
ND
ND
1
ND
1
644
Ala
Asp
c.1931C>A
loss
family
10
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
1
640
Ile
Lys
c.1919T>A; c.1920C>A
gain
somatic
10
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
5.9
0.5
n.d.
n.d.
0.4
1
14.6±2.2
1
640
Ile
Thr
c.1919T>C
gain
somatic
10
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
2
639
Pro
Ser
c.1915C>T
gain
somatic
10
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
4.8-5.0
1.1
2.4
0.2
0.7
2
1,3
639
Pro
Ser
c.1915C>T
gain
family
10
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
4.8-5.0
1.1
2.4
0.2
-
0.7
1
2,3
639
Pro
Ala
c.1915C>G
gain
somatic
10
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
n.d.
n.d.
n.d.
n.d.
n.d.
1
1
639
Pro
Ser
c.1915C>T
gain
sporadic
10
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
4.8-5.0
1.1
2.4
0.2
-
0.7
1
636
Cys
Trp
c.1908C>G
gain
family
10
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
4.9
0.9
0.2
1.0
0.2
1
1
635
Ile
Val
c.1903A>G
gain
somatic
10
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
3.7
n.d.
n.d.
n.d.
n.d.
1
1
633
Asp
Glu
c1899C>G
gain
sporadic
10
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
3.9
1.0
0.9-1.3
0.6
ND
0.7
1
ND
633
Asp
Glu
c1899C>A
gain
somatic
10
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
3.3-3.9
1.0
0.9-1.3
0.6
-
0.7
14
5,7
633
Asp
Tyr
c1897G>T
gain
somatic
10
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
4.1
0.9
1.3
0.8
-
n.d.
18
16.4±6.4
6,10
633
Asp
His
c1897G>C
gain
somatic
10
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
6.2
0.7
2.2
1.0
nd
0.8
13
633
Asp
Ala
c1898A>C
gain
somatic
10
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
3.3-4.4
1.3
n.d.
n.d.
nd
0.2-0.3
1
2,3
633
Asp
His
c1897G>C
gain
carcinoma
10
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
6.2
0.7
2.2
1.0
nd
0.8
1
2
633
Asp
Tyr
c1897G>T
gain
carcinoma
10
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
4.1
0.9
1.3
0.8
-
n.d.
1
16.4±6.4
1,3
633
Asp
Tyr
c1897G>T
gain
sporadic
10
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
4.1
0.9
1.3
0.8
ND
ND
1
16.4±6.4
633
Asn
Glu
c1899C>G
gain
somatic
10
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
3.9
1
0.9-1.3
0.6
-
0.7
2
632
Thr
Ile
c.1895C>T
gain
sporadic
10
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
3.7-5.0
0.8-1.0
1.0-1.3
0.7-1.0
-
n.d.
2
14.5±2.7
2,4,5
632
Thr
Ala
c.1894A>G
gain
carcinoma
10
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
3.3-4.2
1.5
n.d.
n.d.
nd
0.4-0.5
1
1,3
632
Thr
Ile
c.1895C>T
gain
carcinoma
10
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
3.7-5.0
0.8-1.0
1.0-1.3
0.7-1.0
-
n.d.
2
1,3,4
632
Thr
Ala
c.1894A>G
gain
somatic
10
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
3.3-4.2
1.5
n.d.
n.d.
0.4-0.5
7
2,7
632
Thr
Ile
c.1895C>T
gain
somatic
10
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
3.7-5.0
0.8-1.0
1.0-1.3
0.7-1.0
n.d.
58
1,3,5
631
Phe
Leu
c.1893C>A
gain
somatic
10
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
5.0
1.0
n.d.
1.0
-
n.d.
20
45.9±9.4
1,11
631
Phe
Cys
c.1892T>G
gain
somatic
10
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
3.0
1.0
1.0
0.9
-
n.d.
1
2
631
Phe
Leu
c.1891T>C
gain
sporadic
10
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
5.0
1.0
n.d.
1.0
-
n.d.
1
45.9±9.4
1,3
631
Phe
Ile
c.1891T>A
gain
carcinoma
10
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
3.7
0.8
1.1
0.2
0.4
1
8.6 ± 0.7
1
631
Phe
Ser
c.1892T>C
gain
family
10
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
7.0
1.0
1.0
0.4
0.4
1
1
631
Phe
Ile
c.1891T>A
gain
somatic
10
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
3.7
0.8
1.1
0.2
0.4
4
8.6 ± 0.7
3
631
Phe
Leu
gain
carcinoma
10
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
1
631
Phe
Val
c.1891T>G
gain
somatic
10
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
2
630
Ile
Leu
c.1888A>C
gain
somatic
10
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
2.5-6.4
0.8-1.1
0.9
0.3
~
0.4
12
2,3,4
630
Ile
Leu
c.1888A>C
gain
sporadic
10
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
2.5-6.4
0.8-1.1
0.9
0.3
ND
0.4
1
ND
630
Ile
Met
c.1890C>G
gain
somatic
10
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
1
630
Ile
Leu
c.1888A>C
gain
carcinoma
10
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
629
Leu
Phe
c.1887G>T
gain
somatic
10
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
2.1-6.5
0.8-0.9
1.0-1.1
0.2
~
0.7
19
6.9±0.6
2,3,4,5
629
Leu
Phe
c.1887G>T
gain
family
10
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
2.1-6.5
0.8-0.9
1.0-1.1
0.2
~
0.7
1
6.9±0.6
2,3,4,5
627
Ala
Val
c.1880C>T
gain
somatic
10
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
3.2
0.5
n.d.
n.d.
0.5
1
4.2±1.0
1
626
Met
Ile
c.1877G>C
gain
family
10
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
3.5-4.9
1.0
1.0
1.3
0.3-0.7
2
6.8±0.4
1,2
626
Met
Ile
c.1878G>C
gain
somatic
10
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
3.5-4.9
1.0
1.9
1.3
0.3-0.7
1
623
Ala
Ile
c.1867G>A; c.1868C>T
gain
somatic
10
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
2.8
n.d.
1.0
n.d.
-
n.d.
2
1
623
Ala
Val
c.1868C>T
gain
somatic
10
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
4.5-5.0
0.8-1.2
0.9-1.0
1.0
-
1.0
21
5.0±0.7
1,13
623
Ala
Ser
c.1867G>T
gain
somatic
10
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
0.5
n.d.
n.d.
n.d.
nd
n.d.
7
1
623
Ala
Val
c.1868C>T
gain
family
10
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
4.5-5.0
0.8-1.2
0.9-1.0
1.0
-
1.0
1
2,3
623
Ala
Ser
c.1867G>T; c.1868C>T
gain
carcinoma
10
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
0.5
n.d.
n.d.
n.d.
nd
n.d.
3
1
623
Ala
Cys
c.1867G>T; c.1868C>T
gain
somatic
10
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
nd
nd
nd
nd
nd
nd
1
4.6±0.4
1
623
Ala
Phe
c.1867G>T; c.1868C>T
gain
somatic
10
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
0.3-0.4
1.0
n.d.
n.d.
0.5
1
1,2
623
Ala
Gly
c.1868C>T
gain
somatic
10
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
ND
ND
ND
ND
ND
ND
1
620
Thr
Ile
c.1859C>T
gain
carcinoma
10
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
0.7
1.1
1.1
0.6
1.0
1
0.4±0.1
1
619
Asp
Gly
c.1856A>G
gain
somatic
10
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
2.4-1.8
0.9-1.0
0.9
0.8-0.9
-
0.6
19
1,11,12
619
Asp
Gly
c.1856A>G
gain
family
10
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
2.4-1.8
0.9-1.0
0.9
0.8-0.9
-
0.6
1
619
Asp
Gly
c.1856A>G
gain
sporadic
10
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
2.4-1.8
0.9-1.0
0.9
0.8-0.9
-
0.6
1
-
226
618
Lys
Stop
loss
family
10
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
1
617
Asp
Tyr
c.1849G>T
gain
family
10
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
2.4
0.9
0.9
0.8
0.6
1
1
613
del9
gain
somatic
10
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
8.0
0.5
2.0
0.4
1.1
2
2
613
del3ICL
gain
somatic
10
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
8
0.5
2
0.4
nd
1
1
613
Tyr
Cys
c.1838A>G
loss
family
10
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
1
613
Tyr
Cys
c.1838A>G
loss
sporadic
10
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
1
609
Arg
Stop
c.1825C>T
loss
family
10
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
nd
nd
nd
nd
nd
nd
3
609
Arg
Gln
c.1826G>A
loss
family
10
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
1
609
Arg
Leu
c.1826G>T
loss
sporadic
10
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
1
607
Thr
Ile
c.1820C>T
loss
sporadic
10
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
1
601
Tyr
Asn
c.1801T>A
gain
somatic
10
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
3.2-4.8
0.5-1.2
0.9-1.1
0.2-0.5
nd
0.3-0.6
3
5.9±0.1
1,2,4
601
Tyr
Pro
c.1802A>T
gain
somatic
10
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
1
600
Cys
Arg
c.1798T>C
loss
family
10
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
-
0
nd
nd
nd
-
1
597
Val
Leu
c.1789G>C
gain
sporadic
10
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
2.4-6.8
0.5
n.d.
n.d.
-
0.1-0.2
1
125.2±10.5
1-3
597
Val
Phe
c.1789G>T
gain
family
10
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
2.0-4.5
0.7-1.0
n.d.
n.d.
nd
0.3-0.4
2
24.3+/-4.3
1,2
597
Val
Phe
c.1789G>T
gain
somatic
10
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
2.0-4.5
0.7-1.0
n.d.
n.d.
0.3-0.4
1
24.3+/-4.3
1,3
597
Val
Leu
c.1789G>C
gain
somatic
10
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
2.4-6.8
0.5
n.d.
n.d.
0.1-0.2
1
125.2±10.5
1,2,4
593
Ala
Asn
c.1778C>A; c.1777G>A
gain
somatic
10
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
4.4
1.3
n.d.
n.d.
0.4
1
2
593
Ala
Val
c.1778C>T
loss
family
10
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
1
583
Ile
Thr
c.1748T>C
loss
family
10
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
1
575
Glu
Lys
c.1723G>A
gain
family
10
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
1.0
2.42?±?0.4
2
1
572
Met
Ala
c.1535T>A
gain
somatic
10
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
1
568
Ile
Thr
c.1703T>C
gain
somatic
10
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
5.2
0.9
0.8-2.2
0.8
-
0.4-0.7
17
25.6+/-6.3
1,10,11
568
Ile
Thr
c.1703T>C
gain
sporadic
10
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
5.2
0.9
0.8-2.2
0.8
-
0.4-0.7
2
1,5,6
568
Ile
Val
c.1702A>G
gain
family
10
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
2.2-2.9
0.8
0.9-1.0
1.1
0.8-1.0
1
1.9+/-0.8;4.4+/-0.1
1-4
568
Ile
Phe
c.1702A>T
gain
somatic
10
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
3.4
1.1
nd
nd
1
nd
3
nd
568
Ile
Phe
c.1702A>T
gain
carcinoma
10
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
568
Ile
Thr
c.1703T>C
gain
carcinoma
10
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
5.2
0.9
0.8-2.2
0.8
-
0.4-0.7
1
562
Ser
Gly
c.1684A>G
loss
sporadic
10
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
1
556
Pro
Arg
c.1667C>G
loss
family
10
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
1
555
Leu
Stop
Del555-561
loss
family
10
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
1
553
Ala
Thr
c.1657G>A
loss
family
10
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
-
+
~
0
-
-
4
546
Trp
Stop
c.1637G>A
loss
family
10
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
0
0
nd
nd
(0)
nd
4
544
Gly
Glu
c.1631G>A
loss
family
10
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
1
531
Arg
Trp
c.1591C>T
loss
family
10
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
1
531
Arg
Trp
c.1591C>T
loss
sporadic
10
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
1
528
Arg
Ser
loss
family
10
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
1
528
Arg
Cys
c.1582C>T
loss
family
10
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
1
527
Met
Thr
c.1580C>T
loss
family
10
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
2
526
Ala
Thr
c.1576G>A
loss
family
10
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
1
525
Phe
Leu
c.1575C>A
loss
family
10
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
-
+
nd
nd
~
-
1
525
Phe
Ser
c.1574T>C
loss
family
10
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
1
525
Phe
Ser
c.1574T>C
loss
sporadic
10
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
1
519
Arg
Cys
c.1555C>T
loss
family
10
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
2
519
Arg
Gly
c.1555C>G
loss
family
10
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
1
512
Leu
Gln
c.1535T>A
gain
somatic
10
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
3.7-4.6
0.7-0.9
0.9
0.5
0.9-1.0
8
4.5+/-0.7
1,6,7
512
Leu
Arg
c.1535T>G
gain
somatic
10
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
3.3
0.5
1.0
0.1
-
0.6
7
1
512
Leu
Gln
c.1535T>A
gain
sporadic
10
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
3.7-4.6
0.7-0.9
0.9
0.5
ND
0.9-1.0
2
4.5+/-0.7
512
Leu
Arg
c.1535T>G
gain
carcinoma
10
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
3.3
0.5
1.0
0.1
0.6
1
1
512
Leu
Met
c.1534C>A
gain
sporadic
10
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
ND
ND
ND
ND
ND
ND
1
509
Val
Ala
c.1526T>C
gain
family
10
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
3.0
n.d.
n.d.
n.d.
-
n.d.
2
2,3
505
Ser
Arg
c.1513G>A
gain
family
10
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
2.2-2.9
0.7-1.0
1.0
0.5
-
0.6-0.8
2
6.1+/-0.9
2,3,5,7
505
Ser
Asn
c.1513G>A
gain
sporadic
10
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
5-6.5
1.1
0.8-0.9
1-1.2
-
0.8
2
4.5+/-0.3
1,3,4,5
505
Ser
Asn
c.1513G>A
gain
family
10
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
5-6.5
1.1
0.8-0.9
1-1.2
0.8
1
4.5+/-0.3
1,2,4,5
505
Ser
Asn
c.1513G>A
gain
somatic
10
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
5-6.5
1.1
0.8-0.9
1-1.2
0.8
4
4.5+/-0.3
1,2,5,7
505
Ser
Arg
c.1513G>A
gain
somatic
10
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
2.2-2.9
0.7-1.0
1.0
0.5
-
0.6-0.8
2
6.1+/-0.9
498
Gly
Ser
c.1492G>A
loss
family
10
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
0
0
nd
nd
(0)
0
1
489
Gln
His
c.1467G>C
loss
family
10
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
1
488
Trp
Arg
c.1462T>A
loss
family
10
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
1
488
Trp
Arg
c.1462T>A
loss
sporadic
10
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
1
486
Ile
Phe
c.1456A>T
gain
somatic
10
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
4.0-8.2
0.8
1.0-3.3
0.4
0.2-0.4
14
57.8+/-6.9
1,5,6,11
486
Ile
Met
c.1458C>G
gain
somatic
10
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
3.3-4.3
1.1
1.2-1.7
1.8
-
0.5-0.8
13
5.1 +/- 0.6
1,11
486
Ile
Phe
c.1457T>A
gain
carcinoma
10
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
4.0-8.2
0.8
1.0-3.3
0.4
-
0.2-0.4
2
57.8+/-6.9
1,2,5,6
486
Ile
Asn
c.1457T>A
gain
sporadic
10
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
7.1
0.8
n.d.
n.d.
0.6
1
6.7+/-1.4
1
486
Ile
Asn
c.1457T>A
gain
somatic
10
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
7.1
0.8
n.d.
n.d.
0.6
1
6.7+/-1.4
1
485
Ala
Val
c.1454T>C
gain
family
10
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
1.7
n.d.
1.0
0.05
0.03
1
1,2
477
Thr
Ile
c.1431C>T
loss
family
10
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
0
0
nd
nd
-
(0)
1
473
Val
Ile
c.1418G>A
loss
family
10
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
2
467
Leu
Pro
c.1400T>C
loss
family
10
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
-
0
nd
nd
nd
-
1
466
Tyr
Cys
c.1397A>G
loss
sporadic
10
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
1
465
Met
c.1391_1428delinsT
loss
family
10
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
1
463
Met
Val
c.1387A>G
gain
family
10
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
2.0-3.3
1.8
1.0
n.d.
-
0.6
4
13.5+/-0.7
1,5
463
Met
Val
c.1387A>G
gain
somatic
10
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
2.0-3.3
1.8
1.0
n.d.
n.d.
0.6
2
13.5+/-0.7
1,3
462
Cys
Arg
c.1384T>C
loss
sporadic
10
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
1
453
Met
Thr
c.1358T>C
gain
somatic
10
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
5.7-7.0
0.8
1.0
0.8-1.0
nd
0.66
49
5.2+/-0.8
1,10,11
453
Met
Thr
c.1358T>C
gain
sporadic
10
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
5.7-7.0
0.8
1.0
0.8-1.0
nd
0.66
3
5.2+/-0.8
453
Met
Thr
c.1358T>C
gain
carcinoma
10
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
5.7-7.0
0.8
1.0
0.8-1.0
nd
0.66
3
5.2+/-0.8
1,3,4
453
Met
Thr
c.1358T>C
gain
family
10
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
5.7-7.0
0.8
1.0
0.8-1.0
0.66
1
5.2+/-0.8
1,3,4
453
Met
Arg
c.1358T>G
gain
family
10
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
8.53 +/- 1
0.479+/-0.
1
0
nd
0.806+/-0.
1
453
Met
Arg
c.1358T>C
gain
sporadic
10
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
8.53 +/- 1
0.479+/-0.
1
0
nd
0.806+/-0.
1
450
Arg
His
c.1349G>A
loss
family
10
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
-
+
nd
nd
+
-
16
450
Arg
His
c.1349G>A
loss
sporadic
10
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
9
449
Pro
Leu
c.1346C>U
loss
family
10
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
0.805 +/-0
0.611 +/-0
nd
0.169 +/-0
nd
1.191
1
nd
446
Tyr
Cys
c.1397A>G
loss
family
10
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
1
444
Tyr
Stop
c.1332C>G
loss
family
9
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
1
432
Asn
Asp
c.1294A>G
loss
family
10
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
0
0
nd
0
nd
0
1
nd
431
Gly
Ser
c.1292G>A
gain
family
10
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
2.5-6.3
0.6-1.3
0.7-1.4
0.8-1.1
~
0.9
3
4.9+/-0.5;5.8+/-0.6
1,3,4
431
Gly
Ser
c.1292G>A
gain
somatic
10
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
2.5-6.3
0.6-1.3
0.7-1.4
0.8-1.1
0.9
2
4.9+/-0.5;5.8+/-0.6
1,3,4
428
Ala
Val
c.1283C>T
gain
family
10
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
6.4
0.9
n.d.
n.d.
0.25
2
88.2+/-2.1
428
Ala
Ile
c.1283C>T; c.1282G>A
gain
somatic
10
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
5.3
0.9
1.35
0.7
0.45
1
6.4+/-0.5
1
428
Ala
Val
c.1283C>T
gain
somatic
10
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
6.4
0.9
1.35
0.71
0.25
2
88.2+/-2.1
1
425
Ser
Ile
c.1274G>T
gain
somatic
10
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
8.3
0.8
nd
nd
nd
0.76
7
n.d.
1
424
Val
Ile
c.1270G>A
loss
sporadic
10
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
1
424
Val
Phe
c.1270G>T
loss
sporadic
10
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
1
410
Asp
Asn
c.1228G>A
loss
family
10
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
-
+
nd
nd
-
-
3
408
Cys
Arg
c.1222T>C
loss
sporadic
10
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
1
406
Asn
deletio
loss
family
10
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
0
0
nd
nd
0
0
1
406
Asn
Ser
c.1217A>G
gain
family
10
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
2
224, 225
403
Asp
Ala
del403-405
gain
somatic
10
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
8
1
403
Asp
Asn
c.1207G>A
loss
family
10
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
3
403
Asp
del403-405
gain
somatic
10
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
8
1
392
Val
del4
loss
family
10
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
1
390
Cys
Trp
c.1170T>G
loss
family
10
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
~
+
nd
nd
+
-
3
390
Cys
Phe
c.1169G>T
loss
family
10
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
1
390
Cys
Phe
c.1169G>T
loss
sporadic
10
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
2
227
372
Asn
Thr
c.1115A>C
gain
somatic
10
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
2
339
del339-367
gain
somatic
10
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
2
1
324
Gln
Stop
c.970C>T
loss
family
10
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
nd
nd
nd
nd
nd
nd
1
317
c.317+1G->A
loss
family
10
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
1
310
Arg
Cys
c.928C>T
loss
family
10
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
+
0
nd
nd
(0)
nd
2
308
intron5/exon6 junction
loss
family
9
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
nd
nd
nd
nd
nd
nd
1
305
Ser
Arg
c.915T>A
loss
sporadic
10
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
2
283
Cys
Tyr
c.848G>A
loss
family
9
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
1
281
Ser
Asn
c.842G>A
gain
somatic
9
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
2.2-5.3
0.7-1.2
0.6-1.3
0.5-1.3
nd
0.2-0.6
12
7.9+/-0.1;15.1+/-2.9
3,5,10,11,12
281
Ser
Thr
c.842G>C
gain
somatic
9
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
2.2-4.4
0.9-1.0
0.7-1.0
0.7-1.0
nd
0.76
6
7.0+/-1.3
3,8,9
281
Ser
Ile
c.842G>T
gain
somatic
9
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
7-8
0.61
1-3.7
0.6-0.9
0,23
6
25.1+/-7.9
1-3
281
Ser
Asn
c.842G>A
gain
family
9
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
2.2-5.3
0.7-1.2
0.6-1.3
0.5-1.3
~
-
1
7.9+/-0.1;15.1+/-2.9
281
Ser
Asn
c.842G>A
gain
sporadic
9
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
2.2-5.3
0.7-1.2
0.6-1.3
0.5-1.3
ND
ND
2
7.9+/-0.1;15.1+/-2.9
275
Ala
Thr
c.823G>A
loss
sporadic
9
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
1
271
His
Asn
c.811C>A
gain
somatic
9
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
170
94
106
76
83
1
2.7+/-0.4
1
267
Leu
Phe
c.808C>T
gain
family
9
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
ND
ND
ND
ND
ND
ND
1
264
Pro
Ser
c.790C>T
loss
family
9
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
3
252
Leu
Pro
c.755T>C
loss
family
9
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
2
245
Gly
Ser
c.733G>A
loss
family
9
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
1
245
Gly
Ser
c.733G>A
loss
sporadic
9
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
1
234
Ser
Pro
c.700C>T
loss
sporadic
9
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
1
204
Ala
Val
c.611C>T
loss
sporadic
7
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
1
183
Lys
Arg
c.548A>G
gain
family
7
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
~
~
nd
nd
~
~
1
183
Lys
Asn
c.549G>T
gain
somatic
7
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
ND
ND
ND
ND
ND
ND
1
176
Cys
Arg
loss
family
6
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
1
170
Ala
Ala
c.317+1G->A
loss
family
10
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
1
167
Ile
Asn
c.500T>A
loss
family
6
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
0
0
nd
nd
0
0
1
167
Ile
Met
c.501C>G
loss
sporadic
7
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
1
166
Ser
Stop
loss
sporadic
6
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
1
162
Pro
Ala
c.484C>G
loss
family
6
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
-
+
nd
nd
+
-
13
162
Pro
Leu
c.485C>T
loss
sporadic
6
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
1
162
Pro
Ala
c.484C>G
loss
sporadic
7
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
8
162
Pro
Ser
c.484C>T
loss
family
6
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
1
157
IL52fsX
loss
family
5
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
1
145
Thr
Ile
c.434C>T
loss
sporadic
5
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
1
132
Gly
Arg
c.394G>C
loss
family
4
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
2
132
Gly
Arg
c.394G>C
loss
sporadic
4
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
1
123
Ins123-124TGCA
loss
family
4
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
1
109
Arg
Gln
c.326G>A
loss
family
4
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
~
+
nd
nd
+
nd
3
109
Arg
Gln
c.326G>A
loss
sporadic
4
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
5
90
Gln
Pro
c.269A>C; c.270G>T
loss
family
3
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
1
87
Val
Leu
c.259G>C
loss
sporadic
3
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
1
68
Pro
Ser
c.202C>T
loss
family
1
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
68
Pro
Ser
c.202C>T
loss
sporadic
1
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
5
58
Lys
DelExon2
loss
family
2
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
1
57
Leu
Glu
L57EfsX4/P68S
loss
sporadic
1
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
1
51
Pro
Gln
c.152C>A
loss
sporadic
1
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
1
46
Arg
Pro
c.137G>C
loss
sporadic
1
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
1
41
Cys
Ser
c.122G>C
loss
family
1
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
-
0
nd
nd
0
0
6
41
Cys
4bp dup
loss
family
1
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
1
41
Cys
Ser
c.122G>C
loss
sporadic
1
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
3
34
Glu
Lys
c.100G>A
loss
family
1
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
2
33
Gln
Pro
loss
sporadic
1
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
1
31
Cys
Stop
c.91C>A
loss
family
1
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
1
27
Pro
Thr
c.79C>A
loss
sporadic
1
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
1
8
Gln
His
c. 24C>T
loss
sporadic
1
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
1
0
g.IVS4+
loss
sporadic
4
Functional Characteristics:
cAMP
(basal)
cAMP
(TSH)
IP
(basal)
IP
(TSH)
TSH-Binding
Cell Surface Expression
Prevalence
LRA
Ref
1