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

From: Mutation analysis of the ATP7B gene and genotype–phenotype correlation in Chinese patients with Wilson disease

Exon Nucleotide mutation Amino acid change Mutation type Domain Allelic frequency in southern cohort Allelic frequency in large-scale cohort Pathogenicity
PolyPhen-2 Score Variant classification
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)   
  1. TMS transmembrane domain, TDS transduction domain
  2. Novel mutations are highlighted in bold