Table 4:
All variants identified in 3 tiers of exome data analysis in 10 probands.
| MODY Case # | Genomic Change (GRCh37) | HGVS variant annotation | Gene | Variant type | gnomad MAF (%) | REVEL | Inheritance |
|---|---|---|---|---|---|---|---|
| Tier One | |||||||
| 8 | 1:152130386 C>G | NM_001122965.1:c.-20–1G>C | RPTN | splicing | 0 | de novo | |
| 8 | 2:189917641 G>T | NM_000393.5:c.2657C>A, p.Pro886His | COL5A2 | missense | 0 | 0.731 | de novo |
| 8 | 11:2182108 C>T | NM_001042376.3:c.94G>A, p.Gly32Ser | INS | missense | 0 | 0.959 | de novo |
| 10 | 11:103306670 G>C | NM_001080463.2:c.12388–1G>C | DYNC2H1 | splicing | 0 | de novo | |
| Tier Two | |||||||
| 1 | 5:1201932 G>A | NM_001003841.3:c.167G>A, p.Trp56Ter | SLC6A19 | stopgain | 0 | mother | |
| 1 | 8:20074794 G>A | NM_001693.4:c.1225G>A, p.Gly409Arg | ATP6V1B2 | missense | 0 | 0.76 | mother |
| 3 | 1:35227042 G>A | NM_153212.3:c.187G>A, p.Val63Ile | GJB4 | missense | 0.02 | 0.728 | mother |
| 3 | 19:35530036 C>A | NM_001037.5:c.464C>A, p.Ala155Glu | SCN1B | missense | 0 | 0.752 | mother |
| 4 | 15:48786451 T>C | NM_000138.5:c.2678A>G, p.Asp893Gly | FBN1 | missense | 0.01 | 0.862 | mother |
| 5 | 1:24646237 GGTGA>G | NM_198174.3:c.17+183_17+186delAGTG | GRHL3 | splicing | 0 | mother | |
| 5 | 2:121736086 A>C | NM_005270.5:c.1445A>C, p.Lys482Thr | GLI2 | missense | 0.03 | 0.893 | mother |
| 6 | 5:110462529 T>C | NM_139281.3:c.2636T>C, p.Leu879Pro | WDR36 | missense | 0 | 0.79 | mother |
| 6 | 10:102748553 C>T | NM_021830.5:c.586C>T, p.Arg196Ter | TWNK | stopgain | 0 | mother | |
| 6 | 18:19378050 AGG>A | NM_020774.4:c.1099_1100delGG, p.Gly367Ter | MIB1 | frameshift deletion | 0 | mother | |
| Tier Three | |||||||
| 7 | 6:117252529 TC>T | NM_173560.4:c.2650delC, p.Gln884AsnfsTer57 | RFX6 | frameshift deletion | 0 | mother |