TABLE 3.
Somatic mutations detected in the 7 ACD‐associated RCCs
Sample ID | Gene symbol | Type | Coverage | Variant frequencies (%) | Nucleotide change | Amino acid change | Pathogenicity |
---|---|---|---|---|---|---|---|
ACD‐RCC1 | None | ||||||
ACD‐RCC2 | RRM1 | SNV | 683 | 30.5 | c.1320+48C>T | ||
LRP1B | SNV | 1139 | 25.6 | c.82+55G>A | |||
ACD‐RCC3 | SYNE1 | SNV | 635 | 25.7 | c.20112G>T | p.Gln6704His | No information |
MTOR | Deletion | 266 | 24.4 | c.6000delG | p.Glu2000fs | Pathogenic | |
ACD‐RCC4 | BRD3 | SNV | 365 | 40.5 | c.381A>G | ||
ACD‐RCC5 | SF3B1 | SNV | 559 | 36.1 | c.3013+30T>C | ||
ERBB2 | SNV | 629 | 21.6 | c.2844C>T | |||
RHOH | SNV | 472 | 21.6 | c.27G>T | p.Leu9Phe | No information | |
PRKDC | SNV | 559 | 19.9 | c.4216T>C | p.Leu1405Pro, p.*1406Gln | No information | |
MAGI1 | SNV | 567 | 19.0 | c.*693A>G | |||
EPHA7 | SNV | 719 | 18.8 | c.1299T>C | |||
NTRK3 | SNV | 1347 | 17.2 | c.2066C>T | p.Ala689Val | No information | |
GRM8 | SNV | 645 | 15.8 | c.2678G>A | p.Ser893Asn | No information | |
RALGDS | SNV | 484 | 14.0 | c.1585C>T | p.Arg474Trp, p.Arg529Trp | No information | |
FANCA | SNV | 574 | 12.0 | c.187G>A | p.Glu63Lys | No information | |
ACD‐RCC6 | TCF3 | Insertion | 451 | 73.8 | c.1167+29_1167+30insCA | ||
FGFR3 | SNV | 507 | 35.9 | c.2169‐18T>C | |||
NLRP1 | SNV | 53 | 11.3 | c.186G>T | |||
ACD‐RCC7 | TCF3 | Insertion | 169 | 80.5 | c.1167+29_1167+30insCA | ||
ARID2 | SNV | 2200 | 38.9 | c.2582T>G | p.Ile861Ser | No information | |
COL1A1 | SNV | 1150 | 36.6 | c.2288G>A | p.Arg763His | Pathogenic | |
CSMD3 | SNV | 1906 | 36.4 | c.2409T>C | |||
ATR | Deletion | 164 | 15.2 | c.3172‐27_3172‐24delATTT |