Patient No. | Gender | Diagnosis | VAF | Mutation type | Mutation site | Exon | Karyotype | MAF | 1000 genome | ExAC |
---|---|---|---|---|---|---|---|---|---|---|
Age (<=60 years) | ||||||||||
1 | M | Neutropenia | 0.5234 | missense | c.2604 T > G(p.Phe868Leu) | 3 | 46,XY [20] | 0.0024 | 0.0024 | 0.00233 |
2 | F | ? | 0.5048 | missense | c.2604 T > G(p.Phe868Leu) | 3 | 46,XY [20] | 0.0024 | 0.0024 | 0.00233 |
3 | F | ? | 0.493 | missense | c.455G > A(p.Ser152Asn) | 3 | NA | NR | NR | NR |
4 | M | MDS-U | 0.5258 | missense | c.2604 T > G(p.Phe868Leu) | 3 | 46,XX [20],+(8), UPD(11p) | 0.0024 | 0.0024 | 0.00233 |
5 | M | ? | 0.509 | missense | c.3116C > T(p.Ser1039Leu) | 3 | NA | 0.0012 | 0.0012 | 0.00161 |
6 | M | CML | 0.5416 | missense | c.2604 T > G(p.Phe868Leu) | 3 | NA | 0.0024 | 0.0024 | 0.00233 |
7 | F | AA | 0.5285 | missense | c.3116C > T(p.Ser1039Leu) | 3 | 46,XX [20] | 0.0012 | 0.0012 | 0.00161 |
8 | M | ? | 0.4902 | missense | c.2604 T > G(p.Phe868Leu) | 3 | NA | 0.0024 | 0.0024 | 0.00233 |
9 | M | HC | 0.502 | missense | c.3116C > T(p.Ser1039Leu) | 3 | NA | 0.0012 | 0.0012 | 0.00161 |
10 | F | AA | 0.511 | missense | c.3116C > T(p.Ser1039Leu) | 3 | 46,XY [20] | 0.0012 | 0.0012 | 0.00161 |
11 | F | AML-M2 | 0.475 | missense | c.3728A > G(p.Lys1243Arg) | 6 | 46,XX,t(8;21)(q22;q22) | NR | NR | NR |
12 | F | ? | 0.4841 | missense | c.3116C > T(p.Ser1039Leu) | 3 | NA | 0.0012 | 0.0012 | 0.00161 |
13 | M | AA | 0.482 | missense | c.3106C > T(p.His1036Tyr) | 3 | 46,XY [15] | NR | NR | NR |
14 | F | IDA | 0.5224 | missense | c.2604 T > G(p.Phe868Leu) | 3 | 46,XY [20] | 0.0024 | 0.0024 | 0.00233 |
15 | M | MDS-U | 0.5094 | missense | c.2604 T > G(p.Phe868Leu) | 3 | 46,XY [20] | 0.0024 | 0.0024 | 0.00233 |
16 | F | AML-M4 | 0.4867 | missense | c.2440C > T(p.Arg814Cys) | 3 | 46,XY [20] | 0.0014 | 0.0014 | 0.0006 |
17 | F | MDS-SLD | 0.5023 | missense | c.5816A > G(p.Tyr1939Cys) | 3 | 46,XX [20] | NR | NR | NR |
18 | M | ? | 0.512 | missense | c.1712G > A(p.Arg571His) | 3 | NA | NR | NR | 0.00003 |
19 | M | MDS-EB2 | 0.4984 | missense | c.2604 T > G(p.Phe868Leu | 3 | 44 ~ 45,XY,-6,-7,+ 13,-17,-21,-22 +r,+ 3-, 4mar,inc[cp4]/46,XY [1] | 0.0024 | 0.0024 | 0.00233 |
20 | M | MDS-SLD | 0.5332 | missense | c.3116C > T(p.Ser1039Leu) | 3 | 46,XY [20] | 0.0012 | 0.0012 | 0.00161 |
21 | F | AML-M2 | 0.5253 | missense | c.2604 T > G(p.Phe868Leu) | 3 | 0.0024 | 0.0024 | 0.00233 | |
22 | F | MDS-EB2 | 0.5061 | missense | c.427G > A(p.Asp143Asn) | 3 | 46,XX [20] | NR | NR | 0.00003 |
Age (> 60 years) | ||||||||||
23 | F | MDS-RA | 0.5058 | missense | c.2440C > T(p.Arg814Cys) | 3 | 46,XX [20] | 0.0014 | 0.0014 | 0.0006 |
24 | F | MDS-SLD | 0.4912 | missense | c.2440C > T(p.Arg814Cys) | 3 | 47,XX,+add(1)(p11.2) [20] | 0.0014 | 0.0014 | 0.0006 |
25 | F | AA | 0.5078 | missense | c.2440C > T(p.Arg814Cys) | 3 | 46,XY [20] | 0.0014 | 0.0014 | 0.0006 |
26 | F | MDS-U | 0.4835 | missense | c.218G > A(p.Arg73His) | 3 | 46,XX,-20,+mar [20] | NR | NR | 0.00001 |
27 | M | MDS-EB2 | 0.55 | missense | c.2604 T > G(p.Phe868Leu) | 3 | 46,XY,der(7)t(1;7) (q10;p10) [20] | 0.0024 | 0.0024 | 0.00233 |
28 | M | MDS-MLD | 0.5125 | missense | c.3116C > T(p.Ser1039Leu) | 3 | 46,XX [20] | 0.0012 | 0.0012 | 0.00161 |
29 | M | ? | 0.4965 | missense | c.3116C > T(p.Ser1039Leu) | 3 | 46,XY [20] | 0.0012 | 0.0012 | 0.00161 |
30 | M | MDS-RAEB1 | 0.4845 | missense | c.4183G > A(p.Val1395Ile) | 10 | 46 ~ 48,XY,+ 1,-5,del(5) (q13q33),+ 8,-9,-18,-20, + 2 ~ 4mar1,+mar2[cp20] | NR | NR | NR |
31 | M | MDS-RAEB2 | 0.5259 | missense | c.2604 T > G(p.Phe868Leu) | 3 | 46,XX [20] | 0.0024 | 0.0024 | 0.00233 |
32 | M | ITP | 0.4985 | missense | c.3116C > T(p.Ser1039Leu) | 3 | 46,XY [20] | 0.0012 | 0.0012 | 0.00161 |
33 | M | ? | 0.5002 | missense | c.2604 T > G(p.Phe868Leu) | 3 | 46,XX [13] | 0.0024 | 0.0024 | 0.00233 |