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. 2020 Sep 18;111(11):4276–4287. doi: 10.1111/cas.14633

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