Table 3.
Estimated carrier rates of FMF using ExAC
| Mutation | dbSNP | East Asian | South Asian | Latino | European (Non-Finnish) | European (Finnish) | African | Other |
|---|---|---|---|---|---|---|---|---|
| p.Glu84Lys | rs150819742 | 0.00151 (13/8588) | 0.0000609 (1/16418) | 0 (0/11480) | 0 (0/64378) | 0 (0/6316) | 0 (0/9498) | 0 (0/864) |
| p.Leu110Pro | rs11466018 | 0.08465 (717/8470) | 0.000793 (13/16386) | 0.000349 (4/11458) | 0.000159 (10/62936) | 0 (0/6602) | 0 (0/9144) | 0.00115 (1/870) |
| p.Ser141Ile | rs104895130 | 0 (0/7806) | 0 (0/15912) | 0 (0/10018) | 0.0000183 (1/54662) | 0 (0/5548) | 0 (0/7550) | 0.00132 (1/756) |
| p.Glu148Gln | rs3743930 | 0.315 (2275/7222) | 0.302 (4688/15536) | 0.0218 (184/8460) | 0.0197 (961/48764) | 0.00129 (6/4668) | 0.0184 (124/6734) | 0.0716 (49/684) |
| p.Glu148Val | rs104895076 | 0 (0/6392) | 0.000474 (7/14762) | 0 (0/8234) | 0.0000416 (2/48076) | 0 (0/4594) | 0 (0/6636) | 0 (0/668) |
| p.Arg151Ser | rs104895185 | 0 (0/5646) | 0.000712 (10/14052) | 0 (0/7110) | 0 (0/43120) | 0 (0/3968) | 0 (0/5938) | 0 (0/612) |
| p.Ser166Leu | 0 (0/1864) | 0.000897 (9/10030) | 0 (0/1514) | 0 (0/14194) | 0 (0/930) | 0 (0/2048) | 0 (0/264) | |
| p.Glu167Asp | rs104895079 | 0 (0/1704) | 0 (0/9872) | 0 (0/1378) | 0.0000756 (1/13236) | 0 (0/842) | 0 (0/1896) | 0 (0/246) |
| p.Ser179Asn | 0 (0/1368) | 0.00179 (17/9516) | 0 (0/1070) | 0.0000881 (1/11352) | 0 (0/644) | 0 (0/1552) | 0 (0/228) | |
| p.Glu230Lys | rs104895080 | 0 (0/8570) | 0.00431 (71/16486) | 0.000260 (3/11540) | 0.0000907 (6/66162) | 0 (0/6606) | 0 (0/10240) | 0 (0/898) |
| p.Thr267Ile | rs104895081 | 0 (0/8644) | 0.000363 (6/16512) | 0.000173 (2/11574) | 0.000135 (9/66732) | 0 (0/6612) | 0 (0/10392) | 0 (0/906) |
| p.Arg329His | rs104895112 | 0 (0/8630) | 0.00228 (37/16258) | 0.000522 (6/11504) | 0.00223 (147/65936) | 0 (0/6396) | 0.000293 (3/10248) | 0.00112 (1/892) |
| p.Ser339Phe | rs104895157 | 0 (0/8610) | 0.000185 (3/16246) | 0 (0/11474) | 0.000274 (18/65636) | 0 (0/6394) | 0.000197 (2/10148) | 0 (0/890) |
| p.Arg354Trp | rs104895116 | 0 (0/8562) | 0.0000613 (1/16300) | 0 (0/11482) | 0.0000611 (4/65466) | 0 (0/6434) | 0 (0/10158) | 0 (0/880) |
| p.Pro369Ser | rs11466023 | 0.0716 (616/8608) | 0.0147 (241/16442) | 0.00468 (54/11536) | 0.00975 (645/66174) | 0.0155 (101/6522) | 0.00397 (41/10318) | 0.0189 (17/902) |
| p.Arg408Gln | rs11466024 | 0.0541 (465/8600) | 0.0144 (237/16428) | 0.00434 (50/11518) | 0.00973 (639/65696) | 0.0153 (101/6596) | 0.00419 (42/10016) | 0.0190 (17/896) |
| p.Gln474Lys | rs104895104 | 0 (0/8652) | 0.0000606 (1/16512) | 0 (0/11578) | 0 (0/66724) | 0 (0/6614) | 0 (0/10404) | 0 (0/908) |
| p.Phe479Leu | rs104895083 | 0 (0/8654) | 0 (0/16512) | 0 (0/11578) | 0.0000599 (4/66740) | 0 (0/6614) | 0 (0/10406) | 0 (0/908) |
| p.Ser503Cys | rs190705322 | 0.00162 (14/8654) | 0 (0/16512) | 0 (0/11578) | 0 (0/66738) | 0 (0/6614) | 0 (0/10402) | 0 (0/908) |
| p.Ala511Val | rs144270019 | 0 (0/8654) | 0 (0/16512) | 0 (0/11578) | 0.0000749 (5/66718) | 0 (0/6614) | 0 (0/10400) | 0 (0/908) |
| p.Ile591Thr | rs11466045 | 0.000116 (1/8594) | 0.00335 (55/16402) | 0.00290 (33/11374) | 0.0147 (976/66284) | 0.0215 (141/6564) | 0.00176 (18/10254) | 0.0100 (9/898) |
| p.Glu632Ser | rs104895128 | 0 (0/8636) | 0 (0/14474) | 0 (0/11556) | 0.0000456 (3/65754) | 0 (0/6614) | 0 (0/10308) | 0 (0/862) |
| p.Arg653His | rs104895085 | 0 (0/8654) | 0.0000608 (1/16444) | 0 (0/11576) | 0.0000300 (2/66624) | 0 (0/6614) | 0.000289 (3/10386) | 0 (0/906) |
| p.Gly678Glu | rs104895088 | 0 (0/8654) | 0 (0/16512) | 0 (0/11576) | 0.0000450 (3/66740) | 0 (0/6614) | 0 (0/10406) | 0 (0/908) |
| p.Met680Ile (G→C) | rs28940580 | 0 (0/8654) | 0 (0/16512) | 0 (0/11576) | 0.000150 (10/66740) | 0 (0/6614) | 0 (0/10406) | 0.00110 (1/908) |
| p.Met680Ile (G→A) | rs28940580 | 0 (0/8654) | 0 (0/16512) | 0 (0/11576) | 0.0000300 (2/66740) | 0 (0/6614) | 0 (0/10406) | 0 (0/908) |
| p.Met694Val | rs61752717 | 0 (0/8654) | 0 (0/16512) | 0.000432 (5/11576) | 0.000285 (19/66738) | 0 (0/6614) | 0.0000961 (1/10406) | 0.00330 (3/908) |
| p.Lys695Arg | rs104895094 | 0 (0/8654) | 0.0000606 (1/16512) | 0.00225 (26/11576) | 0.00791 (528/66740) | 0.0161 (107/6614) | 0.0000961 (1/10406) | 0.00551 (5/908) |
| p.Val722Met | rs104895201 | 0 (0/8654) | 0 (0/16512) | 0 (0/11578) | 0.0000450 (3/66736) | 0 (0/6614) | 0 (0/10406) | 0 (0/908) |
| p.Val726Ala | rs28940579 | 0 (0/8654) | 0.000121 (2/16512) | 0.000173 (2/11578) | 0.0000450 (217/66736) | 0 (0/6614) | 0 (0/10406) | 0.00330 (3/908) |
| p.Ala744Ser | rs61732874 | 0 (0/8654) | 0.000363 (6/16512) | 0.00181 (21/11578) | 0.00214 (143/66728) | 0.000756 (5/6614) | 0.000385 (4/10404) | 0.00110 (1/906) |
| Total (All/except E148Q) | 0.529/0.214 | 0.347/0.0450 | 0.0397/0.0179 | 0.0679/0.0482 | 0.0704/0.0692 | 0.0297/0.0123 | 0.137/0.0658 |