Table 2.

Comparison of BRCA variation types between Chinese and BIC data

	BRCA1					BRCA2
Change	Chinese	Proportion	BIC	Proportion	p	Chinese	Proportion	BIC	Proportion	p
A. Changes in single base
A > G	36	0.085	155	0.107	0.540	37	0.112	269	0.164	0.084
A > C	10	0.024	39	0.027	0.867	4	0.012	74	0.045	0.003
A > T	28	0.066	54	0.037	0.062	10	0.030	65	0.040	0.438
G > A	46	0.108	204	0.141	0.026	37	0.112	199	0.121	0.644
G > C	12	0.028	57	0.039	0.479	6	0.018	58	0.035	0.126
G > T	39	0.092	117	0.081	0.697	23	0.069	93	0.057	0.700
C > A	11	0.026	57	0.039	0.200	13	0.039	56	0.034	0.627
C > G	19	0.045	67	0.046	0.436	21	0.063	93	0.057	0.700
C > T	61	0.144	167	0.115	0.042	44	0.133	192	0.117	0.461
T > A	11	0.026	43	0.030	0.752	6	0.018	52	0.032	0.214
T > G	13	0.031	59	0.041	0.262	11	0.033	85	0.052	0.093
T > C	23	0.054	93	0.064	1.000	11	0.033	108	0.066	0.061
insA	13	0.031	57	0.039	0.479	7	0.021	55	0.034	0.301
insG	4	0.009	19	0.013	0.815	1	0.003	15	0.009	0.499
insC	3	0.007	11	0.008	0.745	1	0.003	5	0.003	0.339
insT	2	0.005	24	0.017	0.271	5	0.015	37	0.023	0.135
delA	25	0.059	86	0.059	0.910	38	0.115	67	0.041	0.000
delG	24	0.056	49	0.034	0.052	22	0.066	26	0.016	0.000
delC	16	0.038	41	0.028	0.529	17	0.051	40	0.024	0.004
delT	29	0.068	50	0.035	0.003	17	0.051	52	0.032	0.101
Sub‐total	425		1,449			331		1,641
B. Changes of variant types1
Frameshift	214	0.420	555	0.318	0.056	286	0.571	586	0.295	0.000
Missense	130	0.255	609	0.349	0.000	76	0.152	889	0.447	0.000
Nonsense	10	0.020	201	0.115	0.000	2	0.004	187	0.094	0.000
Stop gain	88	0.173	‐	0.000	0.000	98	0.196	‐	0.000	0.000
Splice	31	0.061	5	0.003	0.000	13	0.026	3	0.002	0.000
Intron	6	0.012	292	0.167	0.000	‐	0.000	196	0.099	0.000
Inframe deletion	6	0.012	26	0.015	0.540	3	0.006	27	0.014	0.177
Inframe insertion	‐	0.000	1	0.001	1.000	‐	0.000	4	0.002	0.584
Synonymous	25	0.049	51	0.029	0.142	23	0.046	82	0.041	0.717
Sub‐total	510		1,746			501		1,987

¹ To comprimise naming differences between Chinese data and BIC data for comparison, the names in Chinese data were converted as: Frameshift deletion and frameshift insertion were combined as frameshift; Nonsynonymous SNV and missense were combined as Missense, Nonframeshift deletion was converted as In Frame Deletion, Splice site to Splice. Statistical comparison was performed using Fisher's exact test.