No | cDNA | Protein | Functional domain | SIFT | Poly Phen2 | Mutation taster | ACGM classification | Other gene mutations | Definite diagnosis | |
---|---|---|---|---|---|---|---|---|---|---|
Pre-functional assay | Post-functional assay | |||||||||
1 | c.2719 A>G | p.I907Va | LBD | T | B | DC | VUS | Likely pathogenic | N | PAIS |
2 | c.2719 A>G | p.I907Va | LBD | N | PAIS | |||||
3 | c.2636T>G | p.F879Ca | LBD | Dele | D | DC | VUS | Likely pathogenic | DGKK p.A106T(c.316 C>T); EGF p.I6V(c.16 A>G); FKBP4 p.L356F(c.1066 C>T); GJA4 p.R243W(c.727 C>T) | PAIS |
4 | c.2636T>G | p.F879Ca | LBD | N | PAIS | |||||
5 | c.1762 G>C | p.A588Pa | DBD | Dele | D | DC | VUS | Likely pathogenic | N | CAIS |
6 | c.1762 G>C | p.A588Pa | DBD | N | CAIS | |||||
7 | c.1762 G>C | p.A588Pa | DBD | N | CAIS | |||||
8 | c.1762 G>C | p.A588Pa | DBD | N | CAIS | |||||
9 | c.2435T>A | p.L812Qa | LBD | Dele | D | DC | VUS | Likely pathogenic | N | CAIS |
10 | c.1768 G>C | p.G590Ra,b | DBD | Dele | D | DC | VUS |
BMP4 p.R269Q(c.806 C>T); POR p.G626S(c.1876 G>A) MAP3K1 p.V889L(c.2665 G>C) | PAIS | |
11 | c.2281 A>T | p.R761Wa | LBD | Dele | D | DC | VUS | Likely pathogenic | N | PAIS |
12 | c.368_369 ins T | c.368_369 ins Ta | VUS | pathogenic | N | CAIS | ||||
13 | c.884T>C | p.L295Pa | NTD(Tau-1) | Dele | D | DC | VUS | Likely benign | NR5A1 p.T29K(c.86 C>A); MYH6 p.A1411T(c.4231 C>T) | NR5A1 |
14 | c.1822 C>T | p.R608X | A | Pathogenic | N | CAIS | ||||
15 | c.2667 C>T | p.S889S | LBD | Likely benign | SRD5A2 p.V89L(c.264 G>C) (SNP) | PAIS | ||||
16 | c.2667 C>T | p.S889S | LBD | N | PAIS | |||||
17 | c.2521 C>T | p.R841C | LBD | Dele | D | A | Likely pathogenic | CBX2 p.G185E(c.554 G>A) | PAIS | |
18 | c.2521 C>T | p.R841C | LBD | PAIS | ||||||
19 | c.2521 C>T | p.R841C | LBD | PAIS | ||||||
20 | c.1175 C>G c.2521 C>T | p.P392R; p.R841C | NTD(Tau-5); LBD | Dele | D | DC | VUS | ESR1 p.P146Q(c.437 C>A) | PAIS | |
21 | c.2522 G>A | p.R841H | LBD | Dele | D | A | Likely pathogenic | N | CAIS | |
22 | c.2522 G>A | p.R841H | LBD | N | PAIS | |||||
23 | c.2522 G>A | p.R841H | LBD | N | PAIS | |||||
24 | c.2437 C>T | p.L813F | LBD | T | B | DC | Likely pathogenic | N | PAIS | |
25 | c.2437 C>T | p.L813F | LBD | N | PAIS | |||||
26 | c.528 C>A | p.S176R | NTD(Tau-1) | Dele | D | DC | VUS | POR p.E119Q(c.357 G>C);GJA4 p.R243W(c.727 C>T) | PAIS | |
27 | c.528 C>A | p.S176R | NTD(Tau-1) | N | PAIS | |||||
28 | c.528 C>A | p.S176R | NTD(Tau-1) | SRD5A2 p.R227Q(c.680 G>A) | PAIS | |||||
29 | c.2612 C>T | p.A871V | LBD | T | B | DC | Likely pathogenic | BMP7 p.T251M(c.C752T) | PAIS | |
30 | c.2057T>C | p.V686A | LBD | T | B | DC | VUS | N | PAIS | |
31 | c.2227 A>G | p.M743V | LBD | Dele | P | DC | VUS | PHF6 p.N147S(c.440A>G) | PAIS | |
32 | c.2710 G>A | p.V904M | LBD | Dele | P | DC | VUS | N | CAIS | |
33 | c.1846 C>G | p.R616G | DBD | Dele | D | DC | Likely pathogenic | N | PAIS | |
34 | c.2104 C>T | p.L702F | LBD | Dele | D | DC | Likely pathogenic | N | CAIS | |
35 | c.1739 G>T | p.C580F | DBD | Dele | D | A | Likely pathogenic | N | PAIS | |
36 | exon 2–8 del | exon 2–8 del | pathogenic | BMP2 p.R131S(c.A393T) | CAIS |