Table 1.
All LOF in FLG identified in the AD set.
| Patient ID | Ethnicity | Gene | Transcript ID | NT change | AA change | RSziD | Chromosome | Start_Position | End_Position |
|---|---|---|---|---|---|---|---|---|---|
| 1011019 | Asian | FLG | NM_002016 | c.C8117G | p.S2706* | rs542799026 | 1 | 152279245 | 152279245 |
| 1081007 | Caucasian | FLG | NM_002016 | c.2282_2285del | p.S761fs | rs558269137 | 1 | 152285077 | 152285077 |
| 1091012 | African American | FLG | NM_002016 | c.5799delG | p.R1933fs | rs548103791 | 1 | 152281563 | 152281563 |
| 1241019 | Asian | FLG | NM_002016 | c.C8117G | p.S2706* | rs542799026 | 1 | 152279245 | 152279245 |
| 1451005 | Asian | FLG | NM_002016 | c.7487delC | p.T2496fs | rs375277670 | 1 | 152279875 | 152279875 |
| 1471013 | Caucasian | FLG | NM_002016 | c.C1501T | p.R501* | rs61816761 | 1 | 152285861 | 152285861 |
| 1531004 | Caucasian | FLG | NM_002016 | c.10137delG | p.R3379fs | . | 1 | 152277225 | 152277225 |
| 1601018 | Caucasian | FLG | NM_002016 | c.C1501T | p.R501* | rs61816761 | 1 | 152285861 | 152285861 |
| 1601033 | Caucasian | FLG | NM_002016 | c.2282_2285del | p.S761fs | rs558269137 | 1 | 152285077 | 152285077 |
| 1601033 | Caucasian | FLG | NM_002016 | c.C1501T | p.R501* | rs61816761 | 1 | 152285861 | 152285861 |
| 1601038 | African American | FLG | NM_002016 | c.7740_7741del | p.S2580fs | rs750770449 | 1 | 152279621 | 152279621 |
| 1621005 | African American | FLG | NM_002016 | c.C2476T | p.R826* | rs115746363 | 1 | 152284886 | 152284886 |
| 1631028 | Caucasian | FLG | NM_002016 | c.C9077G | p.S3026* | rs1426542562 | 1 | 152278285 | 152278285 |
| 1631028 | Caucasian | FLG | NM_002016 | c.C1501T | p.R501* | rs61816761 | 1 | 152285861 | 152285861 |
| 1711007 | African American | FLG | NM_002016 | c.C2404T | p.Q802* | rs150611953 | 1 | 152284958 | 152284958 |
| 1711027 | Caucasian | FLG | NM_002016 | c.C1501T | p.R501* | rs61816761 | 1 | 152285861 | 152285861 |
| 1721001 | Caucasian | FLG | NM_002016 | c.2282_2285del | p.S761fs | rs558269137 | 1 | 152285077 | 152285077 |
| 1721003 | Caucasian | FLG | NM_002016 | c.2282_2285del | p.S761fs | rs558269137 | 1 | 152285077 | 152285077 |
| 1721003 | Caucasian | FLG | NM_002016 | c.C1501T | p.R501* | rs61816761 | 1 | 152285861 | 152285861 |
| 42973718 | Caucasian | FLG | NM_002016 | c.2282_2285del | p.S761fs | rs558269137 | 1 | 152285077 | 152285077 |
| 42978887 | Asian | FLG | NM_002016 | c.7487delC | p.T2496fs | rs375277670 | 1 | 152279875 | 152279875 |
| 42989053 | African American | FLG | NM_002016 | c.C2476T | p.R826* | rs115746363 | 1 | 152284886 | 152284886 |
| 42989254 | Caucasian | FLG | NM_002016 | c.C1501T | p.R501* | rs61816761 | 1 | 152285861 | 152285861 |
| 43022549 | African American | FLG | NM_002016 | c.C7339T | p.R2447* | rs138726443 | 1 | 152280023 | 152280023 |
| 43022550 | Caucasian | FLG | NM_002016 | c.C1501T | p.R501* | rs61816761 | 1 | 152285861 | 152285861 |
| 43050811 | African American | FLG | NM_002016 | c.C5717A | p.S1906* | rs141784184 | 1 | 152281645 | 152281645 |
| 43055206 | Caucasian | FLG | NM_002016 | c.2282_2285del | p.S761fs | rs558269137 | 1 | 152285077 | 152285077 |
| 43062910 | Caucasian | FLG | NM_002016 | c.C1501T | p.R501* | rs61816761 | 1 | 152285861 | 152285861 |
| 43079509 | African American | FLG | NM_002016 | c.C6692A | p.S2231* | rs536240526 | 1 | 152280670 | 152280670 |
| 43099438 | Caucasian | FLG | NM_002016 | c.C7339T | p.R2447* | rs138726443 | 1 | 152280023 | 152280023 |
| 43099528 | African American | FLG | NM_002016 | c.C6692A | p.S2231* | rs536240526 | 1 | 152280670 | 152280670 |
| 43109908 | Caucasian | FLG | NM_002016 | c.C1501T | p.R501* | rs61816761 | 1 | 152285861 | 152285861 |
| 43116759 | Caucasian | FLG | NM_002016 | CNV_DELETION | CNV_DELETION | CNV_DELETION | 1 | 152274652 | 152297680 |
| 43132454 | Caucasian | FLG | NM_002016 | c.C1501T | p.R501* | rs61816761 | 1 | 152285861 | 152285861 |
| 43134422 | Caucasian | FLG | NM_002016 | c.C1501T | p.R501* | rs61816761 | 1 | 152285861 | 152285861 |
| 43135174 | Caucasian | FLG | NM_002016 | c.C1501T | p.R501* | rs61816761 | 1 | 152285861 | 152285861 |
| 43148497 | Caucasian | FLG | NM_002016 | c.2282_2285del | p.S761fs | rs558269137 | 1 | 152285077 | 152285077 |
| 43179517 | Caucasian | FLG | NM_002016 | c.2282_2285del | p.S761fs | rs558269137 | 1 | 152285077 | 152285077 |
| 43198393 | Caucasian | FLG | NM_002016 | c.4020delA | p.G1340fs | rs770008928 | 1 | 152283341 | 152283342 |
| 43203074 | African American | FLG | NM_002016 | c.2282_2285del | p.S761fs | rs558269137 | 1 | 152285077 | 152285077 |
| 43221146 | Caucasian | FLG | NM_002016 | c.C1501T | p.R501* | rs61816761 | 1 | 152285861 | 152285861 |
| 43221147 | Caucasian | FLG | NM_002016 | c.C1501T | p.R501* | rs61816761 | 1 | 152285861 | 152285861 |
| 43260548 | Caucasian | FLG | NM_002016 | c.2282_2285del | p.S761fs | rs558269137 | 1 | 152285077 | 152285077 |
| 43297049 | Caucasian | FLG | NM_002016 | c.C1501T | p.R501* | rs61816761 | 1 | 152285861 | 152285861 |
| 43306754 | African American | FLG | NM_002016 | c.C2476T | p.R826* | rs115746363 | 1 | 152284886 | 152284886 |
| 5500365697 | Caucasian | FLG | NM_002016 | c.2282_2285del | p.S761fs | rs558269137 | 1 | 152285077 | 152285077 |
| 5502137729 | African American | FLG | NM_002016 | c.C9077G | p.S3026* | rs1426542562 | 1 | 152278285 | 152278285 |
| 5502362305 | African American | FLG | NM_002016 | c.C9947G | p.S3316* | rs149484917 | 1 | 152277415 | 152277415 |
| 5502362305 | African American | FLG | NM_002016 | c.C2476T | p.R826* | rs115746363 | 1 | 152284886 | 152284886 |
| 5502432960 | African American | FLG | NM_002016 | c.C5392T | p.R1798* | rs149105551 | 1 | 152281970 | 152281970 |
| 5504556880 | Caucasian | FLG | NM_002016 | c.C7339T | p.R2447* | rs138726443 | 1 | 152280023 | 152280023 |
| 5504556880 | Caucasian | FLG | NM_002016 | c.C1501T | p.R501* | rs61816761 | 1 | 152285861 | 152285861 |
| 5505347456 | Caucasian | FLG | NM_002016 | c.C1501T | p.R501* | rs61816761 | 1 | 152285861 | 152285861 |
| 5505609600 | Asian | FLG | NM_002016 | c.C7661G | p.S2554* | rs121909626 | 1 | 152279701 | 152279701 |
| 5506294081 | Caucasian | FLG | NM_002016 | c.2282_2285del | p.S761fs | rs558269137 | 1 | 152285077 | 152285077 |
| 5507409104 | African American | FLG | NM_002016 | c.2282_2285del | p.S761fs | rs558269137 | 1 | 152285077 | 152285077 |
| 5508687105 | African American | FLG | NM_002016 | c.C9947G | p.S3316* | rs149484917 | 1 | 152277415 | 152277415 |
| 5508688512 | Caucasian | FLG | NM_002016 | c.7487delC | p.T2496fs | rs375277670 | 1 | 152279875 | 152279875 |
| 5512912848 | Caucasian | FLG | NM_002016 | c.C11227T | p.R3743* | rs142421644 | 1 | 152276135 | 152276135 |
| 5514977857 | African American | FLG | NM_002016 | c.2282_2285del | p.S761fs | rs558269137 | 1 | 152285077 | 152285077 |
| 5515794176 | Caucasian | FLG | NM_002016 | c.C7339T | p.R2447* | rs138726443 | 1 | 152280023 | 152280023 |
| 5515801488 | Asian | FLG | NM_002016 | c.G7264T | p.E2422* | rs374588791 | 1 | 152280098 | 152280098 |
| 5515801488 | Asian | FLG | NM_002016 | c.7214_7215del | p.A2405fs | . | 1 | 152280147 | 152280147 |
| 5515862528 | Asian | FLG | NM_002016 | c.A12064T | p.K4022* | rs146466242 | 1 | 152275298 | 152275298 |
| 5515996305 | Asian | FLG | NM_002016 | c.C3418T | p.R1140* | rs141375260 | 1 | 152283944 | 152283944 |
| 5516026753 | Asian | FLG | NM_002016 | c.C11227T | p.R3743* | rs142421644 | 1 | 152276135 | 152276135 |
| 5516124672 | Asian | FLG | NM_002016 | c.3321delA | p.S1107fs | rs200519781 | 1 | 152284041 | 152284041 |