ATM sequence variants in 120 lymphoid neoplasms and samples from 100 random individuals
Variant . | Nucleotide change . | Localization . | No. of tumors . | No. of random individuals . |
---|---|---|---|---|
S49C | C>G at 146 | Exon 5 | 2 | 2 |
V245V* | C>T at 735 | Exon 9 | 10 | 2 |
Q466X | C>T at 1396 | Exon 12 | 1 | 0 |
F570S | T>C at 1709 | Exon 13 | 1 | 0 |
P604S | C>T at 1810 | Exon 14 | 1 | 0 |
S707P | T>C at 2119 | Exon 15 | 4 | 3 |
F858L | T>C at 2572 | Exon 19 | 4 | 3 |
H996Q | T>G at 2988 | Exon 22 | 1 | 0 |
P1054R | C>G at 3161 | Exon 24 | 6 | 4 |
H1380Y | C>T at 4138 | Exon 30 | 1 | 0 |
I1407S | T>G at 4220 | Exon 30 | 1 | 0 |
L1420F | C>T at 4258 | Exon 31 | 2 | 1 |
N1853V | A>T at 5558 | Exon 39 | 2 | 0 |
G2023R | G>A at 6067 | Exon 43 | 1 | 0 |
G2063E | G>A at 6188 | Exon 44 | 1 | 0 |
R2151G† | A>G at 6450 | Exon 46 | 1 | 0 |
Q2593X | C>T at 7776 | Exon 54 | 1 | 0 |
M2616I | G>T at 7847 | Exon 55 | 1 | 0 |
R3008H | G>A at 9023 | Exon 65 | 1 | 0 |
G3051V | G>T at 9252 | Exon 65 | 1 | 0 |
N1853D | G>A at 5557 | Exon 39 | 21 | 20 |
P1526P‡ | C/T at 4578 | Exon 32 | 10 | 7 |
S1987S‡ | T/C at 5961 | Exon 42 | 1 | 0 |
R2461R‡ | C/T at 7383 | Exon 52 | 1 | 0 |
V3005V‡ | A/T at 9015 | Exon 65 | 1 | 0 |
Variant . | Nucleotide change . | Localization . | No. of tumors . | No. of random individuals . |
---|---|---|---|---|
S49C | C>G at 146 | Exon 5 | 2 | 2 |
V245V* | C>T at 735 | Exon 9 | 10 | 2 |
Q466X | C>T at 1396 | Exon 12 | 1 | 0 |
F570S | T>C at 1709 | Exon 13 | 1 | 0 |
P604S | C>T at 1810 | Exon 14 | 1 | 0 |
S707P | T>C at 2119 | Exon 15 | 4 | 3 |
F858L | T>C at 2572 | Exon 19 | 4 | 3 |
H996Q | T>G at 2988 | Exon 22 | 1 | 0 |
P1054R | C>G at 3161 | Exon 24 | 6 | 4 |
H1380Y | C>T at 4138 | Exon 30 | 1 | 0 |
I1407S | T>G at 4220 | Exon 30 | 1 | 0 |
L1420F | C>T at 4258 | Exon 31 | 2 | 1 |
N1853V | A>T at 5558 | Exon 39 | 2 | 0 |
G2023R | G>A at 6067 | Exon 43 | 1 | 0 |
G2063E | G>A at 6188 | Exon 44 | 1 | 0 |
R2151G† | A>G at 6450 | Exon 46 | 1 | 0 |
Q2593X | C>T at 7776 | Exon 54 | 1 | 0 |
M2616I | G>T at 7847 | Exon 55 | 1 | 0 |
R3008H | G>A at 9023 | Exon 65 | 1 | 0 |
G3051V | G>T at 9252 | Exon 65 | 1 | 0 |
N1853D | G>A at 5557 | Exon 39 | 21 | 20 |
P1526P‡ | C/T at 4578 | Exon 32 | 10 | 7 |
S1987S‡ | T/C at 5961 | Exon 42 | 1 | 0 |
R2461R‡ | C/T at 7383 | Exon 52 | 1 | 0 |
V3005V‡ | A/T at 9015 | Exon 65 | 1 | 0 |