Table 2.
Germline and somatic mutations detected by NGS of the two patients
| Patient 1 | Patient 2 |
|---|---|
| Germline mutation | |
| MEN1 c.313del(p.L105Sfs*14) | MEN1 c.313del(p.L105Sfs*14) |
| ARID1B c.4490G > A(p.S1497N) | EPAS1 c.1960G> (p.V654I) |
| CDK12 c.2960 C > T(p.S987F) | EPHA3 c.82 A > G(p.N28D) |
| EPAS1 c.1960G> (p.V654I) | PTCH1 c.3583_3584delACinsTT(p.T1195L) |
| FAT1 c.10,226 C > T(p.T3409M) | |
| IFNA6 c.140T> (P.I47T) | |
| PTCH1 c.3584 C > T(p.T1195I) | |
| Somatic mutation | |
| ASMT c.361 > A(p.A121T) | MEN1 c.286 C > T(p.Q96*) |
| CHD1 c.3355 C > A(p.P1119T) | AGK c.370G > A(p.G124R) |
| DOK6 c.880 A > T(p.M294L) | CHEK1 c.676dupA(p.T226Nfs*19) |
| EBF4 c.617G > A(p.R206H) | FLG2 c.3319 C > T(p.P1107S) |
| GABRA2 c.346_347del(p.L116Nfs*3) | HPSE2 c. 1736del(p.Y579Lfs*74) |
| GPRC5A c.371G > A(p.R124Q) | ITGB7 c. 1595G > A(p.G532D) |
| LRRC34 c.314 A > G(p.E105G) | LTN1 c.5423G > A(p.R1808H) |
| MAP3K6 c.2575 A > G(p.M859V) | MPRIP c.504 + 1G > A(p.X168_splice) |
| NHS c.2009_2028del(p.L670Sfs*15) | MUC19 c.11,128 C > G(p.P3710A) |
| OR7D4 c.251G > A(p.S84N) | MYO3A c.2999G > A(p.R1000Q) |
| PRSS33 c.376G > C(p.D126H) | OR5H6 c.838T > A(p.S280T) |
| QRFPR c. 130G > A(p.A44T) | RMDN1 c.289G > A(p.G97R) |
| RP1L1 c.5626_5673del(p.A1876_E1891del) | TCTE1 c.616 C > A(p.L2061) |
| SEPTIN14 c.478G > A(p.V160M) | TTN c.91312G > A(p.D30438N) |
| SETBP1 c.4691 C > G(p.P1564R) | WDR81 c.3322 C > A(p.L1108M) |
| SF1 c.541G > A(p.G181R) | WNT8B c.715 C > T(p.R239C) |
| SLC16A11 c.1409 C > T(p.T470I) | ZNF776 c.1493G > A(p.R498H) |
| SLCO1A2 c. 1026C > A(p.Y342”) | ZNF780A c.1240 A > G(p.1414 V) |
| SLIT1 c.2330 C > T(p.P777L) | |
| SPTAN1 c.480 C > A(p.D160E) | |
| SRP72 c. 1336 C > A(p.H446N) | |
| TACC2 c.3805T > A(p.C1269S) | |
| TNC c.3805T > A(p.C1269S) | |
| UPK3A c.8 C > T(p.P3L) | |