From: Exome sequencing for diagnosis of congenital hemolytic anemia
Patient ID | Gene name | transcript | Nucleotide change | AA change | zygosity | References rsNumber | gnomAD allele frequency | Polyphen-2 | Mutation taster | MaxEnt Scan | CADD score | ACMG class |
---|---|---|---|---|---|---|---|---|---|---|---|---|
P1 | ANK1 | NM_020476 | c.5152C > T | p.Gln1718* | het | No | 0 | NA | NA |  | 37 | LP |
 | HBA1 | NM_0005558 | c.389 T > C | p.L130P | het | Darbellay et al 1995 | 0 | PD | DC |  | 23.4 | LP |
P2 | ANK1 | NM_020476 | c.1702-2A > C |  | het | No ref | 0 | NA | NA | −100% | 34 | LP |
 | HFE | NM_000410 | c.187C > G | p.H63D | het | Kaczorowska-Hac et al 2016 rs1799945 | 10.83% | B | P |  | 12.8 | VUS |
 | HFE | NM_000410 | c.845G > A | p.C282Y | het | Kaczorowska-Hac et al 2016 rs1800562 | 3.37% | PD | DC |  | 25.2 | P |
P3 | SLC4A1 | NM_000342 | c.1458C > G | p.Y486* | het | No | 0 | NA | NA |  | 35 | LP |
P4 | SLC4A1 | NM_000342 | c.486-2A > G |  | het | no | 0 | NA | NA | −100% | 25.3 | P |
P5 | SPTB | NM_001024858 | c.1331_1338del | p.Leu444Profs*3 | het | Dhermy et al 1998 | 0 | NA | DC | Â | Â | P |
P6 | ANK1 | NM_020476 | c.5497C > T | p.R1833* | het | Hayette et al 1998 | 0 |  |  |  | 47 | P |
P7 | SLC4A1 | NM_000342 | c.1322 T > G | p.L441R | het | No | 0 | PD | DC | No effect | 26.8 | VUS |
P8 | ANK1 | NM_020476 | c.1801-17G > A |  | het | Duru et al rs786205243 | 0 |  |  | Creation of a cryptic acceptor | 8.2 | LP |
P9 | ANK1 | NM_020476 | c.4462C > T | p.R1488* | het | Ozcan et al 2003 rs777701149 | 0 |  |  |  | 36 | P |
P10 | ANK1 | NM_020476 | c.1A > G | p.? | het | no | 0 | NA | NA | NA | 14.3 | P |
P11 | SPTB | NM_001024858 | c.2863C > T | p.R955* | het | no | 0 | NA | NA | NA | 37 | P |
 | SPTA1 | NM_003126 | c.6421C > T | p.R2141W | het | Niss et al 2016 rs41273519 | 0.2% | PD | DC |  | 27.4 | LP |
P12 | SPTB | NM_001024858 | c.4973 + 5G > A |  | het | no | 0 | NA | NA | −100% | 16.48 | VUS |
P13 | ANK1 | NM_020476 | c.534delC | p.H178Qfs*75 | het | no | 0 | NA | NA | Â | Â | LP |
P14 | SPTB | NM_001024858 | c.5623C > T | p.Q1875* | het | no | 0 | NA | NA |  | 48 | LP |
P15 | SLC4A1 | NM_000342 | c.1462G > A | p.V488M | het | Alloisio et al 1997 rs28931584 | 0.00041% | PD | DC | No effect | 24.5 | P |
P16 | ANK1 | NM_020476 | c.712-2A > G |  | het | no | 0 | NA | NA | −100% | 34 | LP |
P17 | SLC4A1 | NM_000342 | c.2423G > A | p.R808H | het | Bogardus et al 2012 rs866727908 | 0 | PD | DC | No effect | 33 | LP |
 | PIEZO1 |  | c.2578G > A | p.V860M | het | rs532390680 | 0.0028% | PossD | DC | No effect |  | VUS |
P18 | SLC4A1 | NM_000342 | c.2279G > A | p.R760Q | het | Jarolim et al 1995 | 0 | PD | DC | No effect | 29.6 | LP |
P19 | SPTB | NM_001024858 | c.3436dup | p.L1146Pfs*36 | het | no | 0 | NA | NA | Â | Â | LP |
 | SPTB | NM_001024858 | c.6101G > A | p.S2034N | het | no | 0.00041% | B | DC | No effect | 22.9 | VUS |
P20 | SPTB | NM_001024858 | c.3916C > T | p.R1306* | het | No rs150471537 | 0 | NA | NA |  | 38 | LP |