Table 1. Clinical characteristics of patients that underwent validation of custom multindexed targeted exome sequencing of 19 genes.
| Participant ID | Diagnosis | Age enrolled | Age diagnosed | Gender | Race | Novel deleterious Mutations | PolyPhen-2scores ofNovelMutations | RareDeleteriousMutations(MAF<0.05) | Family History | Biopsy (initial clinical presentation) |
| 07-0430-01196 | Alport’s syndrome/ESRD | 47 | 10 | F | C | COL4A5-G1030S | 1 | father, sister andpaternal uncle allon Hemodialysis. Fatherdiagnosed for Alport’s.Two sons withpresumed Alport’s | biospy at age 10, inconclusive (proteinuria) | |
| 07-0430-01724 | Alport’s sydrome | 8 | 4 | M | C | rs1800516 | 3 brother withAlport’s Syndrome | skin negative for COL4A5 (hematuria) | ||
| 07-0430-02009 | horseshoe kidney/Crohn’s/alport’s | 16 | 6 | F | C | COL4A5-G1161E | 1 | rs13027659 | Grandmother07-0430-00730 hasESRD/FSGS | Alport Syndrome (GN) |
| 07-0430-01590 | ESRD, Grandmother of07-0430-2009 | 53 | 11 | F | C | COL4A5-G1161E, NPHS1-N188I | 1, 0.57 | maternal uncle and 2cousins died of renalfailure | FSGS (proteinuria) | |
| 07-0430-00730 | Hereditary nephritis | 70 | 44 | M | C | brother with renal transplant | no biopsy (ESRD) | |||
| 07-0430-01161 | Hereditary nephritis | 71 | 56 | F | C | multiple familymembers with kidney transplants | no biopsy (ESRD) | |||
| 07-0430-01559 | Hereditary nephritis | 60 | 48 | F | C | likely secondary FSGS | no biopsy (Cr 1.8) | |||
| 07-0430-01722 | Hereditary nephritis | 75 | 60 | M | C | COL4A3-S1147F, COL4A4-P1587R | 0.655, 0.913 | brother and sister withESRD due to presumedhereditary nephritis | no biopsy (ESRD) | |
| 07-0430-02027 | hereditary nephritis | 46 | 35 | M | C | rs1800516 | aunt on Hemodialysisand cousin with kidneydisease | no biopsy (ESRD) | ||
| 07-0430-00597 | alport’s syndrome | 19 | 6 | M | C | mother withinterrupted COL4A5 staining inskin biopsy | skin negative for COL4A5 (proteinuria) | |||
| 07-0430-00016 | FSGS | 38 | 27 | F | AA | LAMA5-S1469A, LAMA5-V2440I | 0.99, 0.65 | rs34728338, rs36121515, rs80109666 | Father with CKD,diabetes | FSGS (proteinuria) |
| 07-0430-00033 | persumed FSGS | 62 | 20 | M | AA | PLCE1-L2173R, LAMA5-G3685R | 0.999, 1.0 | no family history | no biopsy (inc Cr, HTN) | |
| 07-0430-00048 | persumed FSGS | 45 | 33 | M | C | CAPN12-R229C, LAMA5-E2908V | 1.0, 0.81 | no family history | normal COL4A5 (HTN) | |
| 07-0430-00099 | persumed FSGS | 44 | 32 | M | AA | ACTN4-V801M | 0.013 | Father with ESRD,presumed to haveDiabetes Mellitus | biospy inconclusive (proteinuria) |
Participants in italics are relatives in which the same mutation was found.