Table 4.
Details of cases of discordance between Sanger sequencing and NGS
| Variant Description | Ped ID | Pt ID | Gene | Exon/IVS | Codon | cDNA change | Protein | Comment |
|---|---|---|---|---|---|---|---|---|
| Variants detected by Sanger sequencing but not by NGS (n=10) | M368 | R1700 | PKD1 | 1 | 37 | c.108_109insC | p.Cys37fs76X | Lack of coverage |
| M615 | R1953 | PKD1 | 11 | 845 | c.2534T>C | p.Leu845Ser | Mutant percentage below threshold | |
| M499 | R2001 | PKD1 | 12 | 960 | c.2879G>A | p.Gly960Asp | Mutant percentage below threshold | |
| M152 | R1432 | PKD1 | 15 | 1362 | c.4084C>T | p.Ser1362Pro | Mutant percentage below threshold | |
| M118 | R95 | PKD1 | 15 | 2212 | c.6635G>A | p.Ser2212Asn | Mutant percentage below threshold | |
| 2215 | c.6644G>A | p.Arg2215Gln | Mutant percentage below threshold | |||||
| M307 | R1573 | PKD1 | IVS20 | 2621 | c.7864-2A>G | p.2621fs | Mutant percentage below threshold | |
| M307 | R1581 | PKD1 | IVS20 | 2621 | c.7864-2A>G | p.2621fs | Mutant percentage below threshold | |
| P387 | OX2242 | PKD1 | 25 | 3016 | c.9047A>G | p.Gln3016Arg | Mutant percentage below threshold | |
| P229 | OX1056 | PKD1 | IVS31 | 3390 | c.10170+25_+45delCTGGGGGTCCTGGGCTGGG | p.Gln3390fs | NextGENe score below threshold | |
| Variants detected by NGS but missed during the original Sanger sequencing analysis (n=2) | M453 | R1930 | PKD1 | 15 | 2250 | c.6749C>T | p.Thr2250Met | Operator-caused error |
| M412 | R1380 | PKD1 | 26 | 3081 | c.9241T>C | p.Cys3081Arg | Allele dropout |