Table 1 Spectrum of mutations in the ATP7B gene of a large-scale sample of Chinese patients with Wilson’s disease

2

c.121A>G

p.Asn41Asp

Missense

Before Cu1

0

0.04% (1/2604)

0.029

Uncertain significance

2

c.254G>T

p.Gly85Val

Missense

Cu1

0

0.04% (1/2604)

2

c.268_271DEL

p.Lys90PhefsX10

Deletion

Cu1

0

0.04% (1/2604)

NA

Pathogenic

2

c.287A>G

p.Asp96Gly

Missense

Cu1

0

0.31% (8/2604)

2

c.314C>A

p.Ser105X

Nonsense

Cu1

0

0.15% (4/2604)

2

c.367DELG

p.Ala123ProfsX30

Deletion

Cu1

0

0.04% (1/2604)

NA

Pathogenic

2

c.433G>T

p.Val145Phe

Missense

Cu2

0

0.08% (2/2604)

2

c.523INSA

NA

Insertion

Cu2

0

0.08% (2/2604)

NA

NA

2

c.525DupA

p.Val176SerfsX28

Insertion

Cu2

0.50% (1/202)

1.11% (29/2604)

2

c.588C>A

p.Asp196Glu

Missense

Cu2

0.99% (2/202)

0.35% (9/2604)

2

c.592A>G

p.Arg198Gly

Missense

Cu2

0

0.04% (1/2604)

0.735

NA

2

c.685insA

NA

Insertion

Cu3

0

0.04% (1/2604)

2

c.695DELC

p.Pro232GlnfsX30

Deletion

Cu3

0

0.04% (1/2604)

NA

Likely benign​

2

c.748G>A

p.Gly250Arg

Missense

Cu3

0

0.04% (1/2604)

0.004

NA

2

c.813DELC

p.Cys271TrpfsX3

Deletion

Cu3

0

0.04% (1/2604)

2

c.898_902DEL AAGTA

NA

Deletion

Cu3

0

0.04% (1/2604)

NA

NA

2

c.994G>T

p.Glu332X

Nonsense

bet Cu3/Cu4

0

0.42% (11/2604)

2

c.1057DELC

p.Gln353ArgfsX10

Deletion

bet Cu3/Cu4

0

0.04% (1/2604)

NA

NA

2

c.1162C>T

p.GIn388X

Nonsense

Cu4

0

0.04% (1/2604)

2

c.1168A>G

p.Ile390Val

Missense

Cu4

0

0.58% (15/2604)

0.019

NA

2

c.EX2 DEL

NA

Deletion

Cu4

0

0.08% (2/2604)

3

c.1366G>C

p.Val456Leu

Missense

bet Cu4/Cu5

0

0.08% (2/2604)

3

c.1403_1416DEL

p.Ala468GlyfsX33

Deletion

bet Cu4/Cu5

0

0.04% (1/2604)

NA

NA

3

c.1426G>A

p.Ala476Thr

Missense

bet Cu4/Cu5

0

0.04% (1/2604)

0.002

Likely benign

3

c.1448_1455DEL GAGCAGTG

p.Arg483SerfsX20

Deletion

Cu5

0

0.04% (1/2604)

3

c.1449_1456DEL

p.Arg483SerfsX20

Deletion

Cu5

0

0.08% (2/2604)

NA

NA

3

c.1470C>A

p.Cys490X

Nonsense

Cu5

0.50% (1/202)

0.38% (10/2604)

3

c.1492A>T

p.Thr498Ser

Missense

Cu5

0

0.04% (1/2604)

3

c.1510_1511INSA

NA

Insertion

Cu5

0.50% (1/202)

0.04% (1/2604)

NA

NA

3

c.1516_1517DELAT

NA

Deletion

Cu5

0

0.04% (1/2604)

3

c.1531C>T

p.Gln511X

Nonsense

Cu5

0

1.38% (36/2604)

4

c.1544G>T

p.Gly515Val

Missense

Cu5

0

0.04% (1/2604)

4

c.1545DELT

p.Gly515GlyfsX9

Deletion

Cu5

0

0.04% (1/2604)

NA

NA

4

c.1552_1553DELTC

p.Ser518ArgfsX15

Deletion

Cu5

0

0.04% (1/2604)

NA

NA

4

c.1639C>T

p.Gln547X

Nonsense

Cu5

0

0.04% (1/2604)

5

c.1745_1746DEL TA

NA

Deletion

Cu6

0

0.04% (1/2604)

NA

NA

5

c.1760C>T

p.Thr587Met

Missense

Cu6

0

0.04% (1/2604)

0.005

Likely benign​

5

c.1782T>A

p.Tyr594X

Nonsense

Cu6

0

0.04% (1/2604)

NA

NA

5

c.1802DELC

NA

Deletion

Cu6

0

0.04% (1/2604)

NA

Pathogenic​

5

c.1803DELC

p.Ser602AlafsX46

Deletion

Cu6

0

0.04% (1/2604)

5

c.1817T>G

p.Val606Gly

Missense

Cu6

0

0.08% (2/2604)

5

c.1820DUPA

p.Phe608ValfsX2

Insertion

Cu6

0

0.08% (2/2604)

5

c.1831G>A

p.Glu611Lys

Missense

Cu6

0

0.04% (1/2604)

5

c.1846C>T

p.Arg616Trp

Missense

Cu6

0

0.04% (1/2604)

6

c.1875_1876INS AATT

NA

Insertion

Cu6

0

0.04% (1/2604)

6

c.1925A>G

p.Asp642Gly

Missense

bet Cu6/TM1

0

0.04% (1/2604)

0.899

NA

7

c.1950G>A

p.Trp650X

Nonsense

bet Cu6/TM1

0

0.04% (1/2604)

7

c.1994T>G

p.Met665Arg

Missense

TM1

0

0.04% (1/2604)

0.836

NA

7

c.2012_2013INS ATAT

NA

Insertion

TM1

0

0.04% (1/2604)

NA

NA

7

c.2038C>T

p.Gln680X

Nonsense

bet TM1/TM2

0.50% (1/202)

0.12% (3/2604)

7

c.2043DELC

p.Ser681SerfsX15

Deletion

bet TM1/TM2

0

0.04% (1/2604)

NA

NA

7

c.2075T>C

p.Leu692Pro

Missense

TM2

0.50% (1/202)

0.08% (2/2604)

0.996

NA

7

c.2078C>G

p.Ser693Cys

Missense

TM2

0.50% (1/202)

0.15% (4/2604)

7

c.2097_2099DELCTT

p.Phe700del

Deletion

TM2

0

0.08% (2/2604)

7

c.2120A>G

p.Gln707Arg

Missense

TM2

0

0.04% (1/2604)

8

c.2128G>A

p.Gly710Ser

Missense

TM2

0

0.12% (3/2604)

8

c.2145C>A

p.Tyr715X

Nonsense

TM2

1.49% (3/202)

0.12% (3/2604)

8

c.2156A>G

p.Tyr719Cys

Missense

bet TM2/TM3

0

0.04% (1/2604)

0.990

NA

8

c.2157C>A

p.Tyr719X

Nonsense

bet TM2/TM3

0

0.12% (3/2604)

NA

Pathogenic

8

c.2185A>G

p.Met729Val

Missense

bet TM2/TM3

0

0.04% (1/2604)

8

c.2192T>A

p.Val731Glu

Missense

TM3

0

0.08% (2/2604)

8

c.2195T>C

p.Leu732Pro

Missense

TM3

0

0.04% (1/2604)

8

c.2223T>A

p.Tyr741X

Nonsense

TM3

0

0.04% (1/2604)

8

c.2231C>T

p.Ser744Phe

Missense

TM3

0

0.04% (1/2604)

1.000

Uncertain significance​

8

c.2233C>A

p.Leu745Met

Missense

TM3

0.50% (1/202)

0.04% (1/2604)

0.786

NA

8

c.2251G>T

p.Ala751Ser

Missense

TM3

0

0.04% (1/2604)

0.831

Uncertain significance​

8

c.2261A>G

p.Glu754Gly

Missense

bet TM3/TM4

0

0.04% (1/2604)

0.960

Benign​

8

c.2267C>G

p.Ala756Gly

Missense

bet TM3/TM4

0

0.04% (1/2604)

8

c.2293G>A

p.Asp765Asn

Missense

TM4

0

0.04% (1/2604)

8

c.2294A>G

p.Asp765Gly

Missense

TM4

1.49% (3/202)

0.35% (9/2604)

8

c.2297C>T

p.Thr766Met

Missense

TM4

0

0.08% (2/2604)

8

c.2298INS C

NA

Insertion

TM4

0

0.08% (2/2604)

NA

NA

8

c.2299INSC

p.Pro767ArgfsX28

Insertion

TM4

0

0.04% (1/2604)

NA

NA

8

c.2302DUPC

NA

Insertion

TM4

0

0.08% (2/2604)

8

c.2304DUPC

p.Met769HisfsX26

Insertion

TM4

0

1.08% (28/2604)

8

c.2304DELC

p.Met769CysfsX38

Deletion

TM4

0

0.04% (1/2604)

8

c.2305A>G

p.Met769Val

Missense

TM4

0

0.12% (3/2604)

8

c.2308C>T

p.Leu770Phe

Missense

TM4

0

0.08% (2/2604)

1.000

NA

8

c.2316_2317INS CTCTTTGTG

p.Val772insLeuPheVal

Insertion

TM4

0

0.04% (1/2604)

NA

Uncertain significance​

8

c.2332C>T

p.Arg778Trp

Missense

TM4

0.99% (2/202)

0.19% (5/2604)

8

c.2333G>T

p.Arg778Leu

Missense

TM4

18.81% (38/202)

28.57% (744/2604)

8

c.2333G>A

p.Arg778Gln

Missense

TM4

0

1.42% (37/2604)

8

c.2336G>A

p.Trp779X

Nonsense

TM4

0

0.04% (1/2604)

8

c.2341G>A

p.Glu781Lys

Missense

TM4

0

0.04% (1/2604)

0.998

NA

9

c.2383C>T

p.Leu795Phe

Missense

bet TM4/Td

0.50% (1/202)

0.08% (2/2604)

9

c.2390C>T

p.Ser797Phe

Missense

bet TM4/Td

0

0.04% (1/2604)

0.999

Uncertain significance

10

c.2455C>T

p.Gln819X

Nonsense

bet TM4/Td

0

0.04% (1/2604)

10

c.2464DUPA

p.Met822AsnfsX32

Insertion

bet TM4/Td

0

0.19% (5/2604)

10

c.2506G>A

p.Gly836Arg

Missense

Td

0

0.04% (1/2604)

0.998

NA

10

c.2509G>T

p.Gly837X

Nonsense

Td

0

0.04% (1/2604)

10

c.2510DELG

p.Gly837GlufsX35

Deletion

Td

0

0.04% (1/2604)

10

c.2519C>T

p.Pro840Leu

Missense

Td

0

0.04% (1/2604)

10

c.2525A>G

p.Asp842Gly

Missense

Td

0

0.04% (1/2604)

0.999

NA

10

c.2549C>T

p.Thr850Ile

Missense

Td

1.49% (3/202)

0.23% (7/2604)

10

c.2561A>G

p.Glu854Gly

Missense

Td

0

0.04% (1/2604)

0.998

NA

10

c.2564C>A

p.Ser855Tyr

Missense

Td

0

0.04% (1/2604)

11

c.2587C>T

p.Pro863Ser

Missense

Td

0

0.04% (1/2604)

0.950

Uncertain significance

11

c.2593_2594INS GTCA

NA

Insertion

Td

0

0.04% (1/2604)

NA

NA

11

c.2605G>A

p.Gly869Arg

Missense

bet Td/TM5

0

0.15% (4/2604)

11

c.2620G>C

p.Ala874Pro

Missense

bet Td/TM5

0.50% (1/202)

0.27% (7/2604)

11

c.2621C>T

p.Ala874Val

Missense

bet Td/TM5

0.50% (1/202)

2.42% (63/2604)

11

c.2648_2649DEL

p.Val883AlafsX3

Deletion

bet Td/TM5

0

0.04% (1/2604)

11

c.2659del G

p.Ala887LeufsX14

Deletion

bet Td/TM5

0

0.04% (1/2604)

11

c.2662A>C

p.Thr888Pro

Missense

bet Td/TM5

1.49% (3/202)

0.61% (16/2604)

11

c.2668G>A

p.Val890Met

Missense

bet Td/TM5

0

0.12% (3/2604)

12

c.2740C>T

p.Gln914X

Nonsense

bet Td/TM5

0

0.04% (1/2604)

12

c.2755C>G

p.Arg919Gly

Missense

bet Td/TM5

2.97% (6/202)

1.76% (46/2604)

12

c.2755C>T

p.Arg919Trp

Missense

bet Td/TM5

0

0.08% (2/2604)

12

c.2761A>C

p.Ser921Arg

Missense

bet Td/TM5

0

0.04% (1/2604)

12

c.2785A>G

p.Ile929Val

Missense

TM5

0

0.04% (1/2604)

12

c.2790_2792DEL

p.Ile930DEL

Deletion

TM5

0

0.23% (6/2604)

NA

Likely pathogenic​

12

c.2794_2795INSGT

p.Ser932CysfsX4

Insertion

TM5

0

0.04% (1/2604)

NA

NA

12

c.2804C>T

p.Thr935Met

Missense

TM5

2.97% (6/202)

4.45% (116/2604)

12

c.2810DELT

p.Val937GlyfsX5

Deletion

TM5

0

0.46% (12/2604)

12

c.2827G>A

p.Gly943Ser

Missense

TM5

00

0.27% (7/2604)

12

c.2828G>A

p.Gly943Asp

Missense

TM5

0.50% (1/202)

2.04% (53/2604)

12

c.2848G>T

p.Val950Phe

Missense

bet TM5/TM6

0

0.04% (1/2604)

0.978

NA

12

c.2853_2856DEL

p.Gln951HisfsX15

Deletion

bet TM5/TM6

0

0.04% (1/2604)

NA

Pathogenic

13

c.2885DELC

NA

Deletion

bet TM5/TM6

0

0.04% (1/2604)

NA

NA

13

c.2887C>T

p.Gln963X

Nonsense

bet TM5/TM6

0

0.04% (1/2604)

13

c.2905C>T

p.Arg969Trp

Missense

TM6

0

0.04% (1/2604)

13

c.2906G>A

p.Arg969gGln

Missense

TM6

0.99% (2/202)

0.12% (3/2604)

13

c.2924C>A

p.Ser975Tyr

Missense

TM6

0.50% (1/202)

0.77% (20/2604)

13

c.2930C>T

p.Thr977Met

Missense

TM6

0

0.08% (2/2604)

13

c.2939G>A

p.Cys980Tyr

Missense

TM6

0.50% (1/202)

0.12% (3/2604)

13

c.2944G>A

p.Ala982Thr

Missense

TM6

0

0.04% (1/2604)

13

c.2957C>T

p.Ser986Phe

Missense

TM6

0

0.08% (2/2604)

13

c.2975C>T

p.Pro992Leu

Missense

bet TM6/Ph

13.37% (27/202)

13.02% (339/2604)

13

c.3007G>A

p.Ala1003Thr

Missense

bet TM6/Ph

0.50% (1/202)

0.19% (5/2604)

13

c.3008C>T

p.Ala1003Val

Missense

bet TM6/Ph

0

0.04% (1/2604)

13

c.3010C>T

p.Gln1004X

Nonsense

bet TM6/Ph

0

0.04% (1/2604)

NA

NA

13

c.3028A>G

p.Lys1010Glu

Missense

bet TM6/Ph

0

0.04% (1/2604)

0.997

Uncertain significance

13

c.3029INST

p.Lys1010AsnfsX18

Insertion

bet TM6/Ph

0

0.08% (2/2604)

13

c.3029A>C

p.Lys1010Thr

Missense

bet TM6/Ph

0

0.12% (3/2604)

13

c.3041C>T

p.Pro1014Leu

Missense

bet TM6/Ph

0

0.04% (1/2604)

13

c.3044T>C

p.Leu1015Pro

Missense

bet TM6/Ph

0

0.04% (1/2604)

0.999

NA

13

c.3053C>T

p.Ala1018Val

Missense

bet TM6/Ph

0

0.12% (3/2604)

13

c.3056A>C

p.His1019Pro

Missense

bet TM6/Ph

0

0.04% (1/2604)

0.993

NA

14

c.3083A>G

p.Lys1028Arg

Missense

Ph

0

0.04% (1/2604)

0.914

NA

14

c.3085A>G

p.Thr1029Ala

Missense

Ph

0.50% (1/202)

0.04% (1/2604)

14

c.3087DELT

p.Gly1030AlafsX91

Deletion

Ph

0

0.04% (1/2604)

14

c.3089G>A

p.Gly1030Asp

Missense

Ph

0

0.19% (5/2604)

14

c.3095T>C

p.Ile1032Thr

Missense

Ph

0

0.04% (1/2604)

0.997

NA

14

c.3098C>T

p.Thr1033Ile

Missense

Ph

0

0.04% (1/2604)

0.999

NA

14

c.3104G>T

p.Gly1035Val

Missense

Ph

0

0.04% (1/2604)

14

c.3121C>T

p.Arg1041Trp

Missense

ATP loop

0

0.08% (2/2604)

14

c.3122G>C

p.Arg1041Pro

Missense

ATP loop

0

0.08% (2/2604)

14

c.3140A>T

p.Asp1047Val

Missense

ATP loop

0

0.27% (7/2604)

14

c.3155C>T

p.Pro1052Leu

Missense

ATP loop

0

0.12% (3/2604)

14

c.3157DUPC

p.Leu1053ProfsX16

Insertion

ATP loop

0

0.04% (1/2604)

14

c.3209C>G

p.Pro1070Arg

Missense

ATP loop

0.50% (1/202)

0.23% (6/2604)

1.000

NA

14

c.3221C>T

p.Ala1074Val

Missense

ATP loop

0

0.04% (1/2604)

14

c.3236G>T

p.Cys1079Phe

Missense

ATP loop

0

0.04% (1/2604)

15

c.3263T>C

p.Leu1088Ser

Missense

ATP loop

0

0.15% (4/2604)

1.000

NA

15

c.3271T>C

p.Cys1091Arg

Missense

ATP loop

0

0.04% (1/2604)

0.960

Uncertain significance

15

c.3274A>C

p.Thr1092Pro

Missense

ATP loop

0

0.08% (2/2604)

0.832

NA

15

c.3284A>C

p.Gln1095Pro

Missense

ATP loop

0

0.04% (1/2604)

15

c.3293C>G

p.Pro1098Arg

Missense

ATP loop

0

0.04% (1/2604)

15

c.3307DELG

NA

Deletion

ATP loop

0

0.04% (1/2604)

NA

NA

15

c.3310T>C

p.Cys1104Arg

Missense

ATP loop

0

0.04% (1/2604)

15

c.3311G>A

p.Cys1104Tyr

Missense

ATP loop

0

0.04% (1/2604)

15

c.3316G>A

p.Val1106Ile

Missense

ATP loop

2.97% (6/202)

1.08% (28/2604)

15

c.3368C>T

p.Pro1123Leu

Missense

ATP loop

0

0.04% (1/2604)

0.001

Uncertain significance

15

c.3376DELC

p.His1126ThrfsX2

Deletion

ATP loop

0

0.04% (1/2604)

15

c.3377_3378DELAC

p.His1126ProfsX3

Deletion

ATP loop

0

0.12% (3/2604)

NA

NA

16

c.3426G>C

p.Gln1142His

Missense

ATP loop

0.50% (1/202)

1.04% (27/2604)

16

c.3443T>C

p.Ile1148Thr

Missense

ATP loop

3.47% (7/202)

3.19% (84/2604)

16

c.3445G>A

p.Gly1149Arg

Missense

ATP loop

0

0.04% (1/2604)

1.000

Uncertain significance

16

c.3446G>C

p.Gly1149Ala

Missense

ATP loop

0.50% (1/202)

0.04% (1/2604)

16

c.3446G>A

p.Gly1149Glu

Missense

ATP loop

0.50% (1/202)

0.27% (7/2604)

16

c.3451C>G

p.Arg1151Gly

Missense

ATP loop

0

0.04% (1/2604)

1.000

Uncertain significance

16

c.3451C>T

p.Arg1151Cys

Missense

ATP loop

0

0.08% (2/2604)

16

c.3452G>A

p.Arg1151His

Missense

ATP loop

0

0.19% (5/2604)

16

c.3459G>T

p.Trp1153Cys

Missense

ATP loop

0.99% (2/202)

0.19% (5/2604)

16

c.3502G>C

p.Ala1168Pro

Missense

ATP loop

0

0.04% (1/2604)

16

c.3517G>A

p.Glu1173Lys

Missense

ATP loop

0.50% (1/202)

0.54% (14/2604)

16

c.3532A>G

p.Thr1178Ala

Missense

ATP loop

4.95% (10/202)

0.77% (20/2604)

17

c.3563T>G

p.Leu1188Arg

Missense

ATP loop

0

0.04% (1/2604)

0.998

NA

17

c.3577G>C

p.Ala1193Pro

Missense

ATP loop

0

0.04% (1/2604)

17

c.3584C>T

p.Ala1195Val

Missense

ATP loop

0

0.04% (1/2604)

0.997

Pathogenic

17

c.3587A>G

p.Asp1196Gly

Missense

ATP loop

0

0.04% (1/2604)

1.000

NA

17

c.3605C>G

p.Ala1202Gly

Missense

ATP loop

0

0.08% (2/2604)

17

c.3646G>A

p.Val1216Met

Missense

ATP bind

1.49% (3/202)

1.34% (35/2604)

17

c.3653T>C

p.Leu1218Pro

Missense

ATP bind

0

0.04% (1/2604)

0.999

NA

17

c.3659C>T

p.Thr1220Met

Missense

ATP bind

0

0.04% (1/2604)

17

c.3677C>T

p.Thr1226Ile

Missense

ATP bind

0.50% (1/202)

0.08% (2/2604)

0.990

NA

17

c.3679G>C

p.Ala1227Pro

Missense

ATP bind

0

0.04% (1/2604)

0.999

NA

17

c.3682A>T

p.Arg1228X

Nonsense

ATP bind

0

0.04% (1/2604)

18

c.3700DELG

p.Val1234LeufsX96

Deletion

ATP bind

0

0.23% (6/2604)

NA

NA

18

c.3715G>T

p.Val1239Phe

Missense

ATP bind

0

0.12% (3/2604)

0.997

NA

18

c.3716T>G

p.Val1239Gly

Missense

ATP bind

0.50% (1/202)

0.04% (1/2604)

18

c.3733C>G

p.Pro1245Ala

Missense

ATP hinge

0

0.04% (1/2604)

1.000

Uncertain significance

18

c.3741C>G

p.His1247Gln

Missense

ATP hinge

0

0.04% (1/2604)

18

c.3744G>C

p.Lys1248Asn

Missense

ATP hinge

0

0.08% (2/2604)

18

c.3766_3767DUPCA

p.Gln1256ProfsX75

Insertion

ATP hinge

0

0.04% (1/2604)

NA

Pathogenic​

18

c.3767INSCA

NA

Insertion

ATP hinge

0

0.08% (2/2604)

NA

Pathogenic​

18

c.3776G>T

p.Gly1259Val

Missense

ATP hinge

0

0.12% (3/2604)

0.988

NA

18

c.3791T>C

p.Met1264Thr

Missense

ATP hinge

0

0.04% (1/2604)

0.990

NA

18

c.3793G>T

p.Val1265Leu

Missense

ATP hinge

0.50% (1/202)

0.04% (1/2604)

0.980

NA

18

c.3796G>C

p.Gly1266Arg

Missense

ATP hinge

0

0.04% (1/2604)

0.998

NA

18

c.3799G>A

p.Asp1267Asn

Missense

ATP hinge

0

0.04% (1/2604)

18

c.3802G>A

p.Gly1268Arg

Missense

ATP hinge

0

0.04% (1/2604)

18

c.3809A>G

p.Asn1270Ser

Missense

ATP hinge

1.98% (4/202)

1.88% (49/2604)

18

c.3818C>T

p.Pro1273Leu

Missense

ATP hinge

0

0.08% (2/2604)

18

c.3818C>A

p.Pro1273Gln

Missense

ATP hinge

0

0.15% (4/2604)

18

c.3824T>C

p.Leu1275Ser

Missense

ATP hinge

0.50% (1/202)

0.08% (2/2604)

1.000

NA

18

c.3836A>G

p.Asp1279Gly

Missense

ATP hinge

0

0.19% (5/2604)

18

c.3843DUPT

p.Val1282CysfsX22

Insertion

ATP hinge

0

0.08% (2/2604)

18

c.3848C>T

p.Ala1283Val

Missense

ATP hinge

0

0.04% (1/2604)

1.000

Uncertain significance

18

c.3851_3876DEL

NA

Deletion

ATP hinge

0

0.08% (2/2604)

NA

NA

18

c.3859G>A

p.Gly1287Ser

Missense

ATP hinge

0.99% (2/202)

0.19% (5/2604)

18

c.3877G>A

p.Glu1293Lys

Missense

ATP hinge

0

0.04% (1/2604)

18

c.3884C>T

p.Ala1295Val

Missense

bet ATP hinge/TM7

1.98% (4/202)

0.61% (16/2604)

18

c.3889G>A

p.Val1297Ile

Missense

bet ATP hinge/TM7

0

0.04% (1/2604)

18

c.3896T>G

p.Leu1299Arg

Missense

bet ATP hinge/TM7

0

0.04% (1/2604)

0.996

NA

18

c.3901_3902INSA

p.Arg1301PhefsX3

Insertion

bet ATP hinge/TM7

0

0.08% (2/2604)

NA

NA

19

c.3955C>T

p.Arg1319X

Nonsense

bet ATP hinge/TM7

0

0.15% (4/2604)

19

c.3960G>C

p.Arg1320Ser

Missense

bet ATP hinge/TM7

0.50% (1/202)

0.12% (3/2604)

19

c.3965G>C

p.Arg1322Pro

Missense

bet ATP hinge/TM7

0.50% (1/202)

0.04% (1/2604)

19

c.3982G>A

p.Ala1328Thr

Missense

TM7

0.99% (2/202)

0.23% (6/2604)

19

c.4003G>C

p.Gly1335Arg

Missense

TM7

0

0.23% (6/2604)

19

c.4005_4006INS

p.Gly1335INS LXWVA

Insertion

TM7

0

0.08% (2/2604)

NA

NA

20

c.4043T>A

p.Ile1348Asn

Missense

TM7

0

0.04% (1/2604)

20

c.4057T>C

p.Trp1353Arg

Missense

TM8

0

0.08% (2/2604)

20

c.4059G>A

p.Trp1353X

Nonsense

TM8

0

0.04% (1/2604)

20

c.4064G>A

p.Gly1355Asp

Missense

TM8

0

0.15% (4/2604)

20

c.4094_4097DELCTGT

p.Ser1365TrpfsX27

Deletion

TM8

0

0.04% (1/2604)

20

c.4112T>C

p.Leu1371Pro

Missense

TM8

0.50% (1/202)

0.27% (7/2604)

20

c.4114C>T

p.Gln1372X

Nonsense

TM8

0.50% (1/202)

0.42% (11/2604)

21

c.4162DELG

p.Ala1388ArgfsX5

Deletion

after TM8

0

0.04% (1/2604)

21

c.4175T>A

p.Met1392Lys

Missense

after TM8

0

0.04% (1/2604)

21

c.4272T>G

p.Tyr1424X

Nonsense

after TM8

0

0.04% (1/2604)

NA

NA

21

c.4333G>C

p.Ala1445Pro

Missense

3COOH

0

0.04% (1/2604)