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Table 3 List of variants likely to be the driver variants

From: Molecular profiling of basal cell carcinomas in young patients

Patient Tumor Gene Mutation % of reads Classification gnomAD
P1 7111 12 PTCH1 c.3261dup 11.6% of 1537 Tier 1
p.(Ala1088Argfs*57)
PTCH1 c.1347 + 1G > A 14.1% of 978 Tier 1
P2 10539 13 PTCH1 c.413_429dup 25.8% of 538 Tier 1
p.(Arg144Valfs*3)
P3 656 09 PTCH1 c.3499_3500delinsAA 30.4% of 1281 Tier 1
p.(Gly1167Lys)
P4 9219 17 PTCH1 c.310dupG 51.3% of 3118 Tier 1
p.(Val104Glufs*36)
8608 17 PTCH1 c.310dupG 63.8% of 2933 Tier 1
p.(Val104Glufs*36)
P5 3496 15 ASXL1 c.2893C > T 18.7% of 2578 Tier 2 1.19E-05
p.(Arg965*)
P6 6028 04 PTCH1 c.1011G > A 44.3% of 1509 Tier 1
p.(Trp337*)
TP53 c.535C > T 27.9% of 1665 Tier 2
p.(His179Tyr)
P7 7493 07 SMO c.1604G > T 19.5% of 1592 Tier 2
p.(Trp535Leu)
P9 1833 07 PTCH1 c.3499G > A 15.5% of 1033 Tier 1
p.(Gly1167Arg)
TP53 c.524G > A 14.1% of 997 Tier 2 3.98E-06
p.(Arg175His)
P10 1124 15 PTCH1 c.2917C > T 35% of 940 Tier 1
p.(Gln973*)
P11 3480 15 PTCH1 c.1223_1225delinsTTT p.(His408_Gln409delinsLeu*) 13.7% of 831 Tier 1
P13 4707 07 PTCH1 c.2560_2560 + 1delinsAA 17.5% of 1993 Tier 1
TP53 c.948_949delinsTT 17.2% of 3057 Tier 2
p.(Gln317*)
P14 8579 10 TP53 c.1024C > T 18.3% of 1561 Tier 2
p.(Arg342*)
P15 12702 15 SMO c.1604G > T 26.2% of 1231 Tier 2
p.(Trp535Leu)
15012 15 PTCH1 c.394_394 + 1delinsAA 28.8% of 1147 Tier 1
P18 11975 16 PTCH1 c.2208del 11.4% of 1675 Tier 1
p.(Glu737Argfs*9)
13596 14 PTCH1 c.2557C > T 50.6% of 806 Tier 1
p.(Gln853*)
P19 6062 09 PTCH1 c.2250 + 1G > A 35.3% of 920 Tier 1
TP53 c.920-1G > A 20.2% of 1635 Tier 2
TP53 c.470_471dupTC 25.4% of 1382 Tier 2
p.(Arg158Serfs*13)
P20 12537 08 PTCH1 c.4180C > T 27.2% of 1913 Tier 2 3.19E-05
p.(Arg1394*)
P22 13254 16 PTCH1 c.1347 + 2T > A 61.8% of 1650 Tier 1
P24 3418 12 PTCH1 c.394 + 1G > A 23.7% of 3217 Tier 1
P25 10999 08 PTCH1 c.1348-1G > T 5.3% of 1391 Tier 1
  1. Tier I, variants with strong clinical significance; Tier II, variants with potential clinical significance; –, Not found in gnomAD, numbers in gnomAD represent the frequencies of each variant if found in this database