Table A1.
Comparison of VHL genotype calls – Cleveland Clinic and Transgenomic (n = 16 samples).
| Patient ID | Sample ID | DNA sequenced at Cleveland Clinic | DNA sequenced and reported by Transgenomic |
|---|---|---|---|
| 6Pa | 407insATATATAT, ex2 | 412inATATATAT, ex2 | |
| 6Mb | 18 | wt | wt |
| 6M | 19 | wtc | 412insATATATAT, ex2 |
| 6M | 20 | 407insATATATAT, ex2 | 412insATATATAT, ex2 |
| 7P | wtd | G463C | |
| 7M | G463C | G463C | |
| 9P | 232delA | 232 delA | |
| 9M | 232delAe | P25S, 10% RSIf | |
| 10P | 24 | wt | wt |
| 10P | 25 | C333G | C333G |
| 10P | 26 | C333G | C333G |
| 10P | 27 | C333G | C333G |
| 10M | C333G | C333G | |
| 12P | wt | wt | |
| 12M | 37 | wt | wt |
| 12M | 38 | wt | wt |
aPrimary.
bMetastatic.
c,d,eCalls based on sequence traces presented in Figure A1.
fRelative signal intensity (RSI).