Table 6 DDR founder PVs and their arisen time

BRCA1

c.66dup

p.Glu23Argfs*18

35377490

Pakistani

3800

BRCA1

c.68_69del

p.Glu23Valfs*17

35377490

Pakistani

3800

BRCA1

c.685del

p.Ser229Leufs*5

35377490

Pakistani

3800

BRCA1

c.1471C > T

p.Gln491*

35377490

Pakistani

3800

BRCA1

c.1793 T > G

p.Leu598*

35377490

Pakistani

3800

BRCA1

c.2269del

p.Val757Phefs*8

35377490

Pakistani

3800

BRCA1

c.2340_2343del

p.Glu781Valfs*10

35377490

Pakistani

3800

BRCA1

c.2405_2406del

p.Val802Glufs*7

35377490

Pakistani

3800

BRCA1

c.2603C > G

p.Ser868*

35377490

Pakistani

3800

BRCA1

c.3339_3341del

p.Tyr1113*

35377490

Pakistani

3800

BRCA1

c.3598C > T

p.Gln1200*

35377490

Pakistani

3800

BRCA1

c.3770_3771del

p.Glu1257Glyfs*9

35377490

Pakistani

3800

BRCA1

c.4065_4068del

p.Asn1355Lysfs*10

35377490

Pakistani

3800

BRCA1

c.4183C > T

p.Gln1395*

35377490

Pakistani

3800

BRCA1

c.4485-1G > A

–

35377490

Pakistani

3800

BRCA1

c.4508C > A

p.Ser1503*

35377490

Pakistani

3800

BRCA1

c.5035del

p.Leu1679*

35377490

Pakistani

3800

BRCA1

c.5074 + 1G > A

–

35377490

Pakistani

3800

BRCA1

c.5278-1G > C

–

35377490

Pakistani

3800

BRCA1

c.5361_5362del

p.Cys1787Trpfs*42

35377490

Pakistani

3800

BRCA1

c.5503C > T

p.Arg1835*

35377490

Pakistani

3800

BRCA1

c.3228_3229del

p.Gly1077AlafsTer8

18821011

Italian

3225

BRCA1

c.3331_3334del

p.Gln1111AsnfsTer5

33087180

Iberia

2400-1600

BRCA1

c.4327C > T

p.Arg1443Ter

15883839

Canadian

2000

BRCA1

c.5266dup

p.Gln1756ProfsTer74

21119707

European

1800

BRCA1

c.676del

p.Cys226ValfsTer8

26852130

Northeastern Italian

1720

BRCA1

c.4035del

p.Glu1346LysfsTer20

23274591

Baltic

1550

BRCA1

c.3048_3052dup

p.Asn1018MetfsTer8

11781691

Western Swedish

1500

BRCA1

c.68_69del

p.Glu23ValfsTer17

26595274

Ashkenazi Jewish

1500–750

BRCA1

c.548-?_4185 +? del ex9-12del

–

25716084

Mexican

1440

BRCA1

c.815_824dup

p.Thr276Alafs

32025337

Senegal

1400

BRCA1

c.3626del

p.Lys1208_Leu1209insTer

11039575

Finnish

720–460

BRCA1

c.5309G > T

p.Gly1770Val

35216584

North African

800

BRCA1

c.1380dup

p.Phe461IlefsTer19

18215206

Italian

750

BRCA1

c.1016dup

p.Val340GlyfsTer6

16509964

Norse, Dutch, Italian

600

BRCA1

c.1556del

p.Lys519ArgfsTer13

11720839

Norwegian

600

BRCA1

c.697_698del

p.Val233AsnfsTer4

11720840

Norwegian

500

BRCA1

c.2641G > T

p.Glu881Ter

15146556

South African

500

BRCA1

c.5153-1G > A

p.?

19912264

Spanish

380

BRCA1

c.5212G > A

p.Gly1738Arg

17902052

Greek

275

BRCA1

c.4096 + 3A > G

p.?

11039576

Finnish

200

BRCA1

c.2685_2686del

p.Pro897LysfsTer5

15010701

Dutch

200

BRCA1

c.4097-2A > G

–

11039575

Finnish

< 200

BRCA1

c.1175_1214del

p.Leu392GlnfsTer5

8571953

Unknown

180

BRCA2

c.9026_9030del

p.Tyr3009SerfsTer7

12655574

Northeast Spanish

2760

BRCA2

c.156_157insAlu

–

34087993

Portuguese

2600-2400

BRCA2

c.5116_5119del

p.Asn1706LeufsTer5

19949853

Spanish

1904

BRCA2

c.3036_3039del

p.Ser1013IlefsTer29

9585613

North American

1600

BRCA2

c.9310_9311del

p.Lys3104ValfsTer6

19949853

Spanish

1365

BRCA2

c.5146_5149del

p.Tyr1716LysfsTer8

19949853

Spanish

1200

BRCA2

c.5946del

p.Ser1982ArgfsTer22

9585613

Ashkenazi Jewish

580

BRCA2

c.771_775del

p.Asn257LysfsTer17

8673089

Icelanders

500

BRCA2

c.7480C > T

p.Arg2494Ter

11039581

Finnish

400–200

BRCA2

c.755_758del

p.Asp252ValfsTer24

9585613

North American/France

360

BRCA2

c.5771_5774del

p.Ile1924fs

33643918

Southern African

> 250

BRCA2

c.7934del

p.Arg2645Asnfs

33643918

Southern African

> 250

BRCA2

c.9118-2A > G

p.?

11039580

Finnish

220–140

BRCA2

c.8327 T > G

p.Leu2776Ter

11039580

Finnish

220–140

MLH1

c.306 + 5G > A

–

20858721

Spanish

2200

MLH1

c.1865 T > A

p.Leu622His

20858721

Spanish

425

MSH2

c.1457_1460del

p.Asn486fs

15042510

Southern Chinese

1560

MSH2

c.-823_1076 + 5984del

–

14871915

North American

313

MSH2

c.2152C > T

p.Gln718Ter

30968502

Portuguese

273

MSH6

c.10C > T

p.Gln4Ter

25318681

French Canadian

543

MUTYH

c.1103G > A

p.Gly368Asp

23361220

European

8675

MUTYH

c.452A > G

p.Tyr151Cys

23361220

European

7500

MUTYH

c.849 + 3A > C

–

22865608

Italian

2075

TP53

c.1010G > A

p.Arg337His

26618902

Brazilian

2000