Table 2.
ALL EDC LOFs identified in the AD set.
| Patient ID | Ethnicity | Gene | Transcript ID | NT change | AA change | RSziD | Chromosome | Start_Position | End_Position |
|---|---|---|---|---|---|---|---|---|---|
| 5500098961 | Caucasian | FLG2 | NM_001014342 | c.5475_5478del | p.T1825fs | . | 1 | 152324784 | 152324784 |
| 5508687105 | African American | FLG2 | NM_001014342 | c.C5399G | p.S1800* | rs1349434249 | 1 | 152324863 | 152324863 |
| 1641003 | African American | FLG2 | NM_001014342 | c.C5399G | p.S1800* | rs1349434249 | 1 | 152324863 | 152324863 |
| 1601037 | African American | FLG2 | NM_001014342 | c.3940_3941insTA | p.T1314fs | rs567184084 | 1 | 152326321 | 152326321 |
| 1771002 | Caucasian | FLG2 | NM_001014342 | c.C380A | p.S127* | rs373458772 | 1 | 152329882 | 152329882 |
| 43102554 | African American | FLG2 | NM_001014342 | c.3940_3941insTA | p.T1314fs | rs567184084 | 1 | 152326321 | 152326321 |
| 1601035 | African American | HRNR | NM_001009931 | c.8467delA | p.S2823fs | rs1441063152 | 1 | 152185638 | 152185638 |
| 5508393600 | Caucasian | HRNR | NM_001009931 | c.C2299T | p.R767* | rs148459733 | 1 | 152191806 | 152191806 |
| 5505310928 | Caucasian | HRNR | NM_001009931 | c.C2299T | p.R767* | rs148459733 | 1 | 152191806 | 152191806 |
| 5500363216 | Caucasian | HRNR | NM_001009931 | c.C2299T | p.R767* | rs148459733 | 1 | 152191806 | 152191806 |
| 1711017 | African American | HRNR | NM_001009931 | c.C2299T | p.R767* | rs148459733 | 1 | 152191806 | 152191806 |
| 1061004 | Caucasian | HRNR | NM_001009931 | c.C2299T | p.R767* | rs148459733 | 1 | 152191806 | 152191806 |
| 42989053 | African American | HRNR | NM_001009931 | c.C2299T | p.R767* | rs148459733 | 1 | 152191806 | 152191806 |
| 43306754 | African American | HRNR | NM_001009931 | c.C2299T | p.R767* | rs148459733 | 1 | 152191806 | 152191806 |
| 1721003 | Caucasian | LCE2C | NM_178429 | c.C96A | p.C32* | rs4119577 | 1 | 152648587 | 152648587 |
| 5512683728 | Caucasian | LCE4A | NM_178356 | c.C9A | p.C3* | rs147765240 | 1 | 152681560 | 152681560 |
| 5509505040 | African American | LCE4A | NM_178356 | c.C9A | p.C3* | rs147765240 | 1 | 152681560 | 152681560 |
| 5506327056 | African American | LCE4A | NM_178356 | c.C9A | p.C3* | rs147765240 | 1 | 152681560 | 152681560 |
| 5502328576 | African American | LCE4A | NM_178356 | c.C9A | p.C3* | rs147765240 | 1 | 152681560 | 152681560 |
| 5502137729 | African American | LCE4A | NM_178356 | c.C9A | p.C3* | rs147765240 | 1 | 152681560 | 152681560 |
| 1681005 | African American | LCE4A | NM_178356 | c.C9A | p.C3* | rs147765240 | 1 | 152681560 | 152681560 |
| 1651002 | African American | LCE4A | NM_178356 | c.C9A | p.C3* | rs147765240 | 1 | 152681560 | 152681560 |
| 1641003 | African American | LCE4A | NM_178356 | c.C9A | p.C3* | rs147765240 | 1 | 152681560 | 152681560 |
| 1601035 | African American | LCE4A | NM_178356 | c.C9A | p.C3* | rs147765240 | 1 | 152681560 | 152681560 |
| 1511001 | African American | LCE4A | NM_178356 | c.C9A | p.C3* | rs147765240 | 1 | 152681560 | 152681560 |
| 1431001 | African American | LCE4A | NM_178356 | c.C9A | p.C3* | rs147765240 | 1 | 152681560 | 152681560 |
| 1371007 | African American | LCE4A | NM_178356 | c.C9A | p.C3* | rs147765240 | 1 | 152681560 | 152681560 |
| 5506294081 | Caucasian | LCE4A | NM_178356 | c.245_254del | p.G82fs | rs763134811 | 1 | 152681796 | 152681796 |
| 42989053 | African American | LCE4A | NM_178356 | c.C9A | p.C3* | rs147765240 | 1 | 152681560 | 152681560 |
| 43062909 | African American | LCE4A | NM_178356 | c.C9A | p.C3* | rs147765240 | 1 | 152681560 | 152681560 |
| 43181943 | Caucasian | LCE5A | NM_178438 | c.C235T | p.R79* | rs2282298 | 1 | 152484245 | 152484245 |
| 5502328576 | African American | RPTN | NM_001122965 | c.C2227T | p.R743* | rs184952075 | 1 | 152127348 | 152127348 |
| 1631025 | African American | RPTN | NM_001122965 | c.C2227T | p.R743* | rs184952075 | 1 | 152127348 | 152127348 |
| 5511537345 | Caucasian | RPTN | NM_001122965 | c.C1861T | p.Q621* | rs751330515 | 1 | 152127714 | 152127714 |
| 5515993537 | Caucasian | S100A16 | NM_001317007 | c.C5G | p.S2* | rs137911276 | 1 | 153580623 | 153580623 |
| 43179516 | Caucasian | S100A3 | NM_002960 | c.208delG | p.V70fs | rs576022937 | 1 | 153520255 | 153520255 |
| 1511001 | African American | SPRR3 | NM_001097589 | c.189_205del | p.E63fs | rs746080074 | 1 | 152975685 | 152975685 |
| 1451006 | African American | SPRR3 | NM_001097589 | c.189_205del | p.E63fs | rs746080074 | 1 | 152975685 | 152975685 |
| 1371005 | African American | SPRR3 | NM_001097589 | c.189_205del | p.E63fs | rs746080074 | 1 | 152975685 | 152975685 |
| 43079509 | African American | SPRR3 | NM_001097589 | c.189_205del | p.E63fs | rs746080074 | 1 | 152975685 | 152975685 |
| 43128537 | African American | SPRR4 | NM_173080 | c.22_23insA | p.R8fs | rs201207143 | 1 | 152944388 | 152944388 |
| 43153173 | African American | SPRR4 | NM_173080 | c.22_23insA | p.R8fs | rs201207143 | 1 | 152944388 | 152944388 |
| 5508393600 | Caucasian | TCHH | NM_007113 | c.C4309T | p.Q1437* | rs377677960 | 1 | 152081384 | 152081384 |
| 1611010 | Caucasian | TCHH | NM_007113 | c.C991T | p.Q331* | rs201930497 | 1 | 152084702 | 152084702 |
| 43050811 | African American | TCHH | NM_007113 | c.1delA | p.M1fs | rs748146582 | 1 | 152086555 | 152086555 |
| 5508457168 | Caucasian | TCHHL1 | NM_001008536 | c.C2686T | p.Q896* | rs148113334 | 1 | 152057472 | 152057472 |
| 5516026753 | Asian | TCHHL1 | NM_001008536 | c.C1966T | p.Q656* | rs150014958 | 1 | 152058192 | 152058192 |
| 5514715841 | Caucasian | TCHHL1 | NM_001008536 | c.C1966T | p.Q656* | rs150014958 | 1 | 152058192 | 152058192 |
| 5511537345 | Caucasian | TCHHL1 | NM_001008536 | c.C1966T | p.Q656* | rs150014958 | 1 | 152058192 | 152058192 |
| 5508719312 | Caucasian | TCHHL1 | NM_001008536 | c.C1966T | p.Q656* | rs150014958 | 1 | 152058192 | 152058192 |
| 5508456912 | Caucasian | TCHHL1 | NM_001008536 | c.C1966T | p.Q656* | rs150014958 | 1 | 152058192 | 152058192 |
| 5508456784 | Caucasian | TCHHL1 | NM_001008536 | c.C1966T | p.Q656* | rs150014958 | 1 | 152058192 | 152058192 |
| 5507675024 | Asian | TCHHL1 | NM_001008536 | c.C1966T | p.Q656* | rs150014958 | 1 | 152058192 | 152058192 |
| 5506589377 | Caucasian | TCHHL1 | NM_001008536 | c.C1966T | p.Q656* | rs150014958 | 1 | 152058192 | 152058192 |
| 1711004 | Caucasian | TCHHL1 | NM_001008536 | c.C1966T | p.Q656* | rs150014958 | 1 | 152058192 | 152058192 |
| 1601032 | Caucasian | TCHHL1 | NM_001008536 | c.C1966T | p.Q656* | rs150014958 | 1 | 152058192 | 152058192 |
| 1481008 | Caucasian | TCHHL1 | NM_001008536 | c.C1966T | p.Q656* | rs150014958 | 1 | 152058192 | 152058192 |
| 1301005 | African American | TCHHL1 | NM_001008536 | c.C1966T | p.Q656* | rs150014958 | 1 | 152058192 | 152058192 |
| 1131007 | Caucasian | TCHHL1 | NM_001008536 | c.C1966T | p.Q656* | rs150014958 | 1 | 152058192 | 152058192 |
| 1011018 | Caucasian | TCHHL1 | NM_001008536 | c.C1966T | p.Q656* | rs150014958 | 1 | 152058192 | 152058192 |
| 5508687105 | African American | TCHHL1 | NM_001008536 | c.C880T | p.Q294* | rs61749316 | 1 | 152059278 | 152059278 |
| 5502362305 | African American | TCHHL1 | NM_001008536 | c.C880T | p.Q294* | rs61749316 | 1 | 152059278 | 152059278 |
| 1371007 | African American | TCHHL1 | NM_001008536 | c.C880T | p.Q294* | rs61749316 | 1 | 152059278 | 152059278 |
| 43022549 | African American | TCHHL1 | NM_001008536 | c.C1966T | p.Q656* | rs150014958 | 1 | 152058192 | 152058192 |
| 43099438 | Caucasian | TCHHL1 | NM_001008536 | c.C1966T | p.Q656* | rs150014958 | 1 | 152058192 | 152058192 |
| 43079509 | African American | TCHHL1 | NM_001008536 | c.C880T | p.Q294* | rs61749316 | 1 | 152059278 | 152059278 |
| 43099528 | African American | TCHHL1 | NM_001008536 | c.C880T | p.Q294* | rs61749316 | 1 | 152059278 | 152059278 |