From: Pathogenic variants in human DNA damage repair genes mostly arose in recent human history
Gene | cDNA | Protein | Pubmed ID | Ethnic population | Year BP |
---|---|---|---|---|---|
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 |