Gene/transcript | Family | Variant (c.DNA) | Genomic position | Protein | dbSNP | GnomAD v2.1.1 | CADD v1.6 | |||||
---|---|---|---|---|---|---|---|---|---|---|---|---|
Chr | Start hg38 | Stop hg38 | wt | alt | Allele frequency total | Number of homozygotes | ||||||
NLRP2 NM_017852.4 | 4 | c.314C>T | 19 | 54,974,533 | 54,974,533 | C | T | p.(Pro105Leu) | rs201724086 | 0.00002785 | 0 | 3.863 |
1, 6 | c.1479_1480del | 19 | 54,983,177 | 54,983,178 | del | p.(Arg493Serfs*32) | rs758760659 | 0.00007564 | 0 | |||
48 | c.1870C>T | 19 | 54,983,568 | 54,983,568 | C | T | p.(Gln624*) | No | 35 | |||
5 | c.1885T>C | 19 | 54,983,583 | 54,983,583 | T | C | p.(Ser629Pro) | rs147213467 | 0.001019 | 0 | 20.7 | |
2 | c.2237del | 19 | 54,986,186 | 54,986,186 | del | p.(Asn746Thrfs*4) | rs1190657804 | 0.000003977 | 0 | |||
5 | c.2401G>A | 19 | 54,990,056 | 54,990,056 | G | A | p.(Ala801Thr) | rs117066658 | 0.009561 | 18 | 14.6 | |
3 | c.2860_2861del | 19 | 54,994,420 | 54,994,421 | del | p.(Cys954Glnfs*18) | No | |||||
NLRP5 NM_153447.4 | 12 | c.68T>A | 19 | 56,003,721 | 56,003,721 | T | A | p.(Val23Asp) | rs753824534 | 0.000004304 | 0 | 17.29 |
9 | c.155T>C | 19 | 56,003,808 | 56,003,808 | T | C | p.(Met52Thr) | rs752189640 | 0.000008023 | 0 | 6.797 | |
9 | c.226G>C | 19 | 56,003,879 | 56,003,879 | G | C | p.(Glu76Gln) | rs758399773 | 0.000008023 | 0 | 23.1 | |
54 | c.842C>T | 19 | 56,027,075 | 56,027,075 | C | T | p.(Thr281Met) | rs45627733 | 0.001336 | 0 | 21.7 | |
14 | c.1057C>T | 19 | 56,027,290 | 56,027,290 | C | T | p.(Arg353*) | No | 34 | |||
51 | c.1111C>T | 19 | 56,027,344 | 56,027,344 | C | T | p.(Leu371Phe) | rs191432085 | 0.0003220 | 0 | 0.909 | |
10 | c.1156_1158dup | 19 | 56,538,757 | 56,538,759 | dup | p.(Pro386dup) | rs748872279 | 0.000004031 | 0 | |||
53 | c.1588C>T | 19 | 56,027,821 | 56,027,821 | C | T | p.(Arg530Cys) | rs200705062 | 0.0002531 | 0 | 16.3 | |
14 | c.1597C>T | 19 | 56,027,830 | 56,027,830 | C | T | p.(Arg533Cys) | rs754695863 | 0.00001782 | 0 | 22 | |
7 | c.1664G>T | 19 | 56,027,897 | 56,027,897 | G | T | p.(Gly555Val) | No | 22.4 | |||
11 | c.1699A>G | 19 | 56,027,932 | 56,027,932 | A | G | p.(Met567Val) | rs748718334 | 0.00004419 | 0 | 5.29 | |
53 | c.2090_2091del | 19 | 56,028,323 | 56,028,324 | del | p.(Lys697Argfs*18) | rs771412598 | 0.0002031 | 0 | |||
7 | c.2320T>C | 19 | 56,032,654 | 56,032,654 | T | C | p.(Cys774Arg) | rs370837790 | 0.000004016 | 0 | 23.8 | |
8, 54 | c.2353C>T | 19 | 56,032,687 | 56,032,687 | C | T | p.(Gln785*) | rs200446614 | 0.00008432 | 0 | 36 | |
8 | c.2840T>C | 19 | 56,040,975 | 56,040,975 | T | C | p.(Leu947Pro) | rs202181446 | 0.0002566 | 0 | 23.9 | |
13 | c.3259G>A | 19 | 56,053,768 | 56,053,768 | G | A | p.(Glu1087Lys) | rs762535392 | 0.000008029 | 0 | 6.696 | |
NLRP7 NM_001127255 | 19 | c.574A>C | 19 | 54,940,245 | 54,940,245 | T | G | p.(Met192Leu) | rs104895529 | 0.001856 | 4 | 4.191 |
17 | c.749T>G | 19 | 54,940,070 | 54,940,070 | A | C | p.(Phe250Cys) | rs78096121 | 0.0004525 | 0 | 23.5 | |
17 | c.1104T>G | 19 | 54,939,715 | 54,939,715 | A | C | p.(Ile368Met) | rs1654636 | 0.0004910 | 0 | 0.162 | |
19 | c.2010_2011del | 19 | 54,938,162 | 54,938,163 | del | p.(Phe671Glnfs*18) | rs1467166317 | (0.000006576)a | 0 | |||
15, 18 | c.2156C>T | 19 | 54,936,405 | 54,936,405 | G | A | p.(Ala719Val) | rs104895526 | 0.001050 | 1 | 18.38 | |
16 | c.2161C>T | 19 | 54,936,400 | 54,936,400 | G | A | p.(Arg721Trp) | rs104895525 | 0.00005967 | 0 | 14.24 | |
16 | c.2573T>C | 19 | 54,933,638 | 54,933,638 | A | G | p.(Ile858Thr) | rs776102152 | 0.00007070 | 0 | 18.16 | |
PADI6 NM_207421.3 | 24 | c.433A>G | 1 | 17,379,985 | 17,379,985 | A | G | p.(Lys145Glu) | rs1413565869 | (0.000006571)a | 0 | 23.9 |
21 | c.902G>A | 1 | 17,388,820 | 17,388,820 | G | A | p.(Arg301Gln) | rs755969432 | 0.00002010 | 0 | 25.2 | |
23 | c.1046A>G | 1 | 17,392,197 | 17,392,197 | A | G | p.(Asp349Gly) | No | 23.9 | |||
25 | c.1067G>A | 1 | 17,392,218 | 17,392,218 | G | A | p.(Trp356*) | No | 55 | |||
20 | c.1114A>G | 1 | 17,394,014 | 17,394,014 | A | G | p.(Thr372Ala) | rs374615037 | (0.000006571)a | 0 | 22.8 | |
22 | c.1124T>C | 1 | 17,394,024 | 17,394,024 | T | C | p.(Leu375Ser) | rs1470278066 | 0.000004012 | 0 | 23.5 | |
21 | c.1298C>T | 1 | 17,394,415 | 17,394,415 | C | T | p.(Pro433Leu) | rs759006424 | 0.00004427 | 0 | 24.7 | |
26 | c.1429A>G | 1 | 17,395,042 | 17,395,042 | A | G | p.(Met477Val) | rs761556429 | 0.000004008 | 0 | 11.96 | |
51 | c.1456T>C | 1 | 17,395,069 | 17,395,069 | T | C | p.(Cys486Arg) | No | 23.4 | |||
22, 49 | c.1639G>A | 1 | 17,397,091 | 17,397,091 | G | A | p.(Asp547Asn) | rs150981529 | 0.0005529 | 0 | 0.524 | |
49 | c.1663dup | 1 | 17,397,115 | 17,397,115 | dup | p.(Leu555Profs*6) | rs766500048 | 0.000008031 | 0 | |||
52 | c.1709G>A | 1 | 17,398,705 | 17,398,705 | G | A | p.(Arg570His) | rs372730186 | 0.00001455 | 0 | 23.4 | |
51 | c.1874dup | 1 | 17,401,227 | 17,401,227 | dup | p.(Asn626Glufs*38) | rs745431993 | 0.00001204 | 0 | |||
25 | c.1894C>G | 1 | 17,401,247 | 17,401,247 | C | G | p.(Pro632Ala) | rs755260464 | 0.000004012 | 0 | 25 | |
27 | c.2006del | 1 | 17,401,359 | 17,401,359 | del | p.(Thr669Lysfs*86) | No | |||||
20, 55 | c.2069G>A | 1 | 17,401,422 | 17,401,422 | G | A | p.(Trp690*) | No | 50 | |||
26 | c.2080C>T | 1 | 17,401,433 | 17,401,433 | C | T | p.(Pro694Ser) | rs1368496637 | 0.000008050 | 0 | 23.4 | |
ZFP57 NM_001109809.1 | 33 | c.317_318del | 6 | 29,675,420 | 29,675,421 | del | p.(Glu106Valfs*28) | rs606231121 | (0.000006573)a | 0 | ||
31 | c.372del | 6 | 29,673,739 | 29,673,739 | del | p.(Arg125Glufs*7) | rs1344415728 | 0.000004143 | 0 | 33 | ||
29, 30 | c.373C>T | 6 | 29,673,738 | 29,673,738 | G | A | p.(Arg125*) | No | 0.014 | |||
39, 40 | c.458del | 6 | 29,673,653 | 29,673,653 | del | p.(Leu153Hisfs*49) | rs1027550840 | 0.000004119 | 0 | |||
28 | c.475A>T | 6 | 29,673,636 | 29,673,636 | T | A | p.(Thr159Ser) | rs1334830817 | 0.001553 | 2 | 0.04 | |
41 | c.742C>T | 6 | 29,673,369 | 29,673,369 | G | A | p.(Arg248Cys) | rs1488922640 | 0.00001635 | 0 | 26.1 | |
36, 38 | c.743G>A | 6 | 29,673,368 | 29,673,368 | C | T | p.(Arg248His) | rs77625743 | 0.00001449 | 0 | 24.1 | |
42 | c.748C>T | 6 | 29,673,363 | 29,673,363 | G | A | p.(Arg250Cys) | rs750705477 | 0.0025 | 0 | 23.5 | |
32 | c.783C>A | 6 | 29,673,328 | 29,673,328 | G | T | p.(Cys261*) | rs61730328 | 36 | |||
40 | c.820C>T | 6 | 29,673,291 | 29,673,291 | G | A | p.(Leu274Phe) | No | 19.36 | |||
37 | c.829C>A | 6 | 29,673,282 | 29,673,282 | G | T | p.(His277Asn) | rs78378398 | 25 | |||
38 | c.839_846del | 6 | 29,673,265 | 29,673,272 | del | p.(Ile280Lysfs*21) | No | |||||
28 | c.1033G>C | 6 | 29,673,078 | 29,673,078 | C | G | p.(Ala345Pro) | rs200537697 | 0.001547 | 2 | 2.277 | |
35 | c.1372C>G | 6 | 29,672,739 | 29,672,739 | G | C | p.(His458Asp) | rs79020217 | 24.9 | |||
34 | c.1383del | 6 | 29,672,728 | 29,672,728 | del | p.(Tyr462Ilefs*16) | rs606231122 | |||||
ARID4A NM_002892.3 | 43 | c.1181A>G | 5 | 131,238,707 | 131,238,707 | G | A | p.(Tyr394Cys) | rs575489323 | 0.00001843 | 0 | 3.43 |
OOEP NM_001080507.2 | 45 | c.109C>T | 6 | 73,369,684 | 73,369,684 | G | A | p.(Arg37Trp) | rs189355507 | 0.00001204 | 0 | 25.7 |
ZAR1 NM_175619.2 | 47 | c.130G>T | 4 | 48,490,421 | 48,490,421 | G | T | p.(Gly44Cys) | No | 20.3 | ||
UHRF1 NM_013282.4 | 46 | c.514G>A | 19 | 4,930,794 | 4,939,794 | G | A | p.(Val172Met) | No | 9.791 | ||
KHDC3L NM_001017361.2 | 44 | c.1A>G | 6 | 73,362,730 | 73,362,730 | A | G | p.? | rs606231235 | (0.000006570)a | 0 | 22.4 |
ZNF445 NM_181489.6 | 50 | c.2803C>T | 3 | 44,446,868 | 44,446,868 | G | A | p.(Gln935*) | No | 33 |