Table 1.
Variants associated with haematological manifestations.
| S. no. | Amino acid change | cDNA position | Erythroblastopenia | Marrow dysfunction | AICs | Others |
|---|---|---|---|---|---|---|
| 1 | p.M1T | c.2T>C | + F | + ES | ||
| 2 | p.G47R | c.139G>C | + MAS/HLH | |||
| 3 | p.G47W | c.139G>T | + | + N, F | ||
| 4 | p.G47A | c.140G>C | + P | |||
| 5 | p.G47V | c.140G>T | + N | + HA | ||
| 6 | p.R49Gfs*4 | c.144delG | + | |||
| 7 | p.R49Afs*13 | c.143dup | + | + HA | + MAS/HLH | |
| 8 | p.R49fs | c.144dupG | + | + N | ||
| 9 | p.I93T | c.278T>C | + ES | |||
| 10 | p.H112Q | c.336C>G | + | + N, P | ||
| 11 | p.R131Sfs*53 | c.393del | + P | |||
| 12 | p.H133Lfs*44 | c.396_397del | + HA | |||
| 13 | p.R169Q | c.506G>A | + | + F, N, P | + HA | + MAS/HLH |
| 14 | p.F178S | c.533T>C | + | + F | ||
| 15 | p.T187P | c.559A>C | + ES | |||
| 16 | p.L188P | c.563T>C | + | + N | + HA, ES | |
| 17 | p.F207S | c.620T>C | + | |||
| 18 | p.I210Tfs*57 | c.629delT | + | |||
| 19 | p.F212del | c.634_636delTTC | + F | |||
| 20 | p.Y220* | c.660C>A | + | + P | + HA | |
| 21 | p.Y227fs*27 | c.680_681delAT | + | |||
| 22 | p.E237R fs*30 | c.709delC | + N | |||
| 23 | p.A247Qfs*16 | c.714_738dup | + | + HA | ||
| 24 | p.V252Tfs*7 | c.(753 + 168_754-229)del | + | |||
| 25 | p.D261Pfs*2 | c.781delinsCCATA | + P | |||
| 26 | p.S265* | c.794C>G | + N | |||
| 27 | p.R306X | c.916C>T | + | |||
| 28 | p.L311R | c.932T>G | + | + N, T | ||
| 29 | p.R312* | c.934C>T | + N | |||
| 30 | p.G321E | c.962G>A | + | + N, F | ||
| 31 | p.Y353H | c.1057T>C | + N, F | |||
| 32 | p.G358R | c.1072G>A | + | + N, F | ||
| 33 | p.? | c.(1081 + 139_1082-92)del | + | |||
| 34 | p.N370K | c.1110C>A | + | + N | ||
| 35 | p.W399X | c.1196G > A | + N | |||
| 36 | p.M445K | c.1334T>A | + | |||
| 37 | p.K449Nfs*2 | c.1346_1347insTT | + F | |||
| 38 | p.L451W | c.1352T>G | + | |||
| 39 | p.L451F | c.1353G>T | + N, F | + HA | ||
| 40 | p.Y453C | c.1358A>G | + P, N | |||
| 41 | p.D454H | c.1360G>C | + | |||
| 42 | p.Y456C | c.1367A>G | + | + N | ||
| 43 | p.V458D | c.1373T>A | + F | |||
| 44 | p.M465fsX | c.1392dup | + | + N | ||
| 45 | p.K466Tfs*2 | c.1397_1403delAGGCTGA | + | + F | ||
| 46 | p.Y482C | c.1445A > G | + | |||
| 47 | p.(Ser483Profs*5) | c.1447_1451del | + N | + HA | ||
| 48 | p.W501R | c.1501 T>C or T>A | + F | |||
| 49 | c.-47+2T>C | + | ||||
| 50 | c.1443-2T>A | + | ||||
| 51 | c.882-2A>G | + | ||||
| 52 | 800-bp duplication | + |
AICs, Autoimmune cytopenias; F, Bone Marrow Failure; N, Neutropenia; P, Pancytopenia; ES, Evans Syndrome; HA, Hemolytic anaemia; HLH, Hemophagocytic lymphohistiocytosis; MAS, Macrophage Activation Syndrome; RCA, Red Cell Aplasia; DBA, Diamond-Blackfan anemia.+Presence of manifestation.