| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.108299837_108309100del | CA915947621 | ATM | c.*193_*827-1060del c.5129_5763-1060del n.1344_1978-1060del n.533_1167-1060del c.1085_1719-1060del c.4964_5598-1060del c.4085_4719-1060del c.3821_4455-1060del c.200_834-1060del n.5729_6363-1060del | ClinVar |
| 11 | g.108302749G>A | CA228388160 | ATM | c.*384-104G>A (p.=) c.5320-104G>A (p.=) n.1535-104G>A n.724-104G>A n.549-104G>A c.1276-104G>A (p.=) c.5155-104G>A (p.=) c.4276-104G>A (p.=) c.4012-104G>A (p.=) c.5319-102G>A (p.=) c.391-104G>A (p.=) c.*1-104G>A (p.=) n.5920-104G>A | dbSNP |
| 11 | g.108302749G= | CA1998799440 | ATM | c.*384-104G= (p.=) c.5320-104G= (p.=) n.1535-104G= n.724-104G= n.549-104G= c.1276-104G= (p.=) c.5155-104G= (p.=) c.4276-104G= (p.=) c.4012-104G= (p.=) c.5319-102G= (p.=) c.391-104G= (p.=) c.*1-104G= (p.=) n.5920-104G= | |
| 11 | g.108302752T>G | CA942024742 | ATM | c.*384-101T>G (p.=) c.5320-101T>G (p.=) n.1535-101T>G n.724-101T>G n.549-101T>G c.1276-101T>G (p.=) c.5155-101T>G (p.=) c.4276-101T>G (p.=) c.4012-101T>G (p.=) c.5319-99T>G (p.=) c.391-101T>G (p.=) c.*1-101T>G (p.=) n.5920-101T>G | |
| 11 | g.108302752T= | CA1998799441 | ATM | c.*384-101T= (p.=) c.5320-101T= (p.=) n.1535-101T= n.724-101T= n.549-101T= c.1276-101T= (p.=) c.5155-101T= (p.=) c.4276-101T= (p.=) c.4012-101T= (p.=) c.5319-99T= (p.=) c.391-101T= (p.=) c.*1-101T= (p.=) n.5920-101T= | |
| 11 | g.108302764C>A | CA671413464 | ATM | c.*384-89C>A (p.=) c.5320-89C>A (p.=) n.1535-89C>A n.724-89C>A n.549-89C>A c.1276-89C>A (p.=) c.5155-89C>A (p.=) c.4276-89C>A (p.=) c.4012-89C>A (p.=) c.5319-87C>A (p.=) c.391-89C>A (p.=) c.*1-89C>A (p.=) n.5920-89C>A | |
| 11 | g.108302764C= | CA1998799443 | ATM | c.*384-89C= (p.=) c.5320-89C= (p.=) n.1535-89C= n.724-89C= n.549-89C= c.1276-89C= (p.=) c.5155-89C= (p.=) c.4276-89C= (p.=) c.4012-89C= (p.=) c.5319-87C= (p.=) c.391-89C= (p.=) c.*1-89C= (p.=) n.5920-89C= | |
| 11 | g.108302765A= | CA1998799445 | ATM | c.*384-88A= (p.=) c.5320-88A= (p.=) n.1535-88A= n.724-88A= n.549-88A= c.1276-88A= (p.=) c.5155-88A= (p.=) c.4276-88A= (p.=) c.4012-88A= (p.=) c.5319-86A= (p.=) c.391-88A= (p.=) c.*1-88A= (p.=) n.5920-88A= | |
| 11 | g.108302765A>G | CA671413466 | ATM | c.*384-88A>G (p.=) c.5320-88A>G (p.=) n.1535-88A>G n.724-88A>G n.549-88A>G c.1276-88A>G (p.=) c.5155-88A>G (p.=) c.4276-88A>G (p.=) c.4012-88A>G (p.=) c.5319-86A>G (p.=) c.391-88A>G (p.=) c.*1-88A>G (p.=) n.5920-88A>G | |
| 11 | g.108302769A= | CA1998799446 | ATM | c.*384-84A= (p.=) c.5320-84A= (p.=) n.1535-84A= n.724-84A= n.549-84A= c.1276-84A= (p.=) c.5155-84A= (p.=) c.4276-84A= (p.=) c.4012-84A= (p.=) c.5319-82A= (p.=) c.391-84A= (p.=) c.*1-84A= (p.=) n.5920-84A= | |
| 11 | g.108302769A>G | CA1998799448 | ATM | c.*384-84A>G (p.=) c.5320-84A>G (p.=) n.1535-84A>G n.724-84A>G n.549-84A>G c.1276-84A>G (p.=) c.5155-84A>G (p.=) c.4276-84A>G (p.=) c.4012-84A>G (p.=) c.5319-82A>G (p.=) c.391-84A>G (p.=) c.*1-84A>G (p.=) n.5920-84A>G | |
| 11 | g.108302773T>G | CA228388181 | ATM | c.*384-80T>G (p.=) c.5320-80T>G (p.=) n.1535-80T>G n.724-80T>G n.549-80T>G c.1276-80T>G (p.=) c.5155-80T>G (p.=) c.4276-80T>G (p.=) c.4012-80T>G (p.=) c.5319-78T>G (p.=) c.391-80T>G (p.=) c.*1-80T>G (p.=) n.5920-80T>G | dbSNP gnomAD |
| 11 | g.108302773T= | CA1998799451 | ATM | c.*384-80T= (p.=) c.5320-80T= (p.=) n.1535-80T= n.724-80T= n.549-80T= c.1276-80T= (p.=) c.5155-80T= (p.=) c.4276-80T= (p.=) c.4012-80T= (p.=) c.5319-78T= (p.=) c.391-80T= (p.=) c.*1-80T= (p.=) n.5920-80T= | |
| 11 | g.108302774T>G | CA1998799456 | ATM | c.*384-79T>G (p.=) c.5320-79T>G (p.=) n.1535-79T>G n.724-79T>G n.549-79T>G c.1276-79T>G (p.=) c.5155-79T>G (p.=) c.4276-79T>G (p.=) c.4012-79T>G (p.=) c.5319-77T>G (p.=) c.391-79T>G (p.=) c.*1-79T>G (p.=) n.5920-79T>G | |
| 11 | g.108302774T= | CA1998799455 | ATM | c.*384-79T= (p.=) c.5320-79T= (p.=) n.1535-79T= n.724-79T= n.549-79T= c.1276-79T= (p.=) c.5155-79T= (p.=) c.4276-79T= (p.=) c.4012-79T= (p.=) c.5319-77T= (p.=) c.391-79T= (p.=) c.*1-79T= (p.=) n.5920-79T= | |
| 11 | g.108302774_108302775delinsTG | CA1998799458 | ATM | c.*384-79_*384-78delinsTG (p.=) c.5320-79_5320-78delinsTG (p.=) n.1535-79_1535-78delinsTG n.724-79_724-78delinsTG n.549-79_549-78delinsTG c.1276-79_1276-78delinsTG (p.=) c.5155-79_5155-78delinsTG (p.=) c.4276-79_4276-78delinsTG (p.=) c.4012-79_4012-78delinsTG (p.=) c.5319-77_5319-76delinsTG (p.=) c.391-79_391-78delinsTG (p.=) c.*1-79_*1-78delinsTG (p.=) n.5920-79_5920-78delinsTG | |
| 11 | g.108302775del | CA671413470 | ATM | c.*384-78del (p.=) c.5320-78del (p.=) n.1535-78del n.724-78del n.549-78del c.1276-78del (p.=) c.5155-78del (p.=) c.4276-78del (p.=) c.4012-78del (p.=) c.5319-76del (p.=) c.391-78del (p.=) c.*1-78del (p.=) n.5920-78del | dbSNP |
| 11 | g.108302778A= | CA1998799461 | ATM | c.*384-75A= (p.=) c.5320-75A= (p.=) n.1535-75A= n.724-75A= n.549-75A= c.1276-75A= (p.=) c.5155-75A= (p.=) c.4276-75A= (p.=) c.4012-75A= (p.=) c.5319-73A= (p.=) c.391-75A= (p.=) c.*1-75A= (p.=) n.5920-75A= | |
| 11 | g.108302778A>T | CA1998799463 | ATM | c.*384-75A>T (p.=) c.5320-75A>T (p.=) n.1535-75A>T n.724-75A>T n.549-75A>T c.1276-75A>T (p.=) c.5155-75A>T (p.=) c.4276-75A>T (p.=) c.4012-75A>T (p.=) c.5319-73A>T (p.=) c.391-75A>T (p.=) c.*1-75A>T (p.=) n.5920-75A>T | |
| 11 | g.108302779T>A | CA671413475 | ATM | c.*384-74T>A (p.=) c.5320-74T>A (p.=) n.1535-74T>A n.724-74T>A n.549-74T>A c.1276-74T>A (p.=) c.5155-74T>A (p.=) c.4276-74T>A (p.=) c.4012-74T>A (p.=) c.5319-72T>A (p.=) c.391-74T>A (p.=) c.*1-74T>A (p.=) n.5920-74T>A | |
| 11 | g.108302779T>C | CA228388189 | ATM | c.*384-74T>C (p.=) c.5320-74T>C (p.=) n.1535-74T>C n.724-74T>C n.549-74T>C c.1276-74T>C (p.=) c.5155-74T>C (p.=) c.4276-74T>C (p.=) c.4012-74T>C (p.=) c.5319-72T>C (p.=) c.391-74T>C (p.=) c.*1-74T>C (p.=) n.5920-74T>C | ClinVar dbSNP gnomAD |
| 11 | g.108302779T= | CA1998799467 | ATM | c.*384-74T= (p.=) c.5320-74T= (p.=) n.1535-74T= n.724-74T= n.549-74T= c.1276-74T= (p.=) c.5155-74T= (p.=) c.4276-74T= (p.=) c.4012-74T= (p.=) c.5319-72T= (p.=) c.391-74T= (p.=) c.*1-74T= (p.=) n.5920-74T= | |
| 11 | g.108302780A= | CA1998799471 | ATM | c.*384-73A= (p.=) c.5320-73A= (p.=) n.1535-73A= n.724-73A= n.549-73A= c.1276-73A= (p.=) c.5155-73A= (p.=) c.4276-73A= (p.=) c.4012-73A= (p.=) c.5319-71A= (p.=) c.391-73A= (p.=) c.*1-73A= (p.=) n.5920-73A= | |
| 11 | g.108302780A>T | CA228388206 | ATM | c.*384-73A>T (p.=) c.5320-73A>T (p.=) n.1535-73A>T n.724-73A>T n.549-73A>T c.1276-73A>T (p.=) c.5155-73A>T (p.=) c.4276-73A>T (p.=) c.4012-73A>T (p.=) c.5319-71A>T (p.=) c.391-73A>T (p.=) c.*1-73A>T (p.=) n.5920-73A>T | dbSNP |
| 11 | g.108302783C= | CA1998799475 | ATM | c.*384-70C= (p.=) c.5320-70C= (p.=) n.1535-70C= n.724-70C= n.549-70C= c.1276-70C= (p.=) c.5155-70C= (p.=) c.4276-70C= (p.=) c.4012-70C= (p.=) c.5319-68C= (p.=) c.391-70C= (p.=) c.*1-70C= (p.=) n.5920-70C= | |
| 11 | g.108302783C>T | CA602132784 | ATM | c.*384-70C>T (p.=) c.5320-70C>T (p.=) n.1535-70C>T n.724-70C>T n.549-70C>T c.1276-70C>T (p.=) c.5155-70C>T (p.=) c.4276-70C>T (p.=) c.4012-70C>T (p.=) c.5319-68C>T (p.=) c.391-70C>T (p.=) c.*1-70C>T (p.=) n.5920-70C>T | gnomAD |
| 11 | g.108302789G>C | CA228388207 | ATM | c.*384-64G>C (p.=) c.5320-64G>C (p.=) n.1535-64G>C n.724-64G>C n.549-64G>C c.1276-64G>C (p.=) c.5155-64G>C (p.=) c.4276-64G>C (p.=) c.4012-64G>C (p.=) c.5319-62G>C (p.=) c.391-64G>C (p.=) c.*1-64G>C (p.=) n.5920-64G>C | dbSNP |
| 11 | g.108302789G= | CA1998799477 | ATM | c.*384-64G= (p.=) c.5320-64G= (p.=) n.1535-64G= n.724-64G= n.549-64G= c.1276-64G= (p.=) c.5155-64G= (p.=) c.4276-64G= (p.=) c.4012-64G= (p.=) c.5319-62G= (p.=) c.391-64G= (p.=) c.*1-64G= (p.=) n.5920-64G= | |
| 11 | g.108302791G= | CA1998799479 | ATM | c.*384-62G= (p.=) c.5320-62G= (p.=) n.1535-62G= n.724-62G= n.549-62G= c.1276-62G= (p.=) c.5155-62G= (p.=) c.4276-62G= (p.=) c.4012-62G= (p.=) c.5319-60G= (p.=) c.391-62G= (p.=) c.*1-62G= (p.=) n.5920-62G= | |
| 11 | g.108302791G>T | CA228388208 | ATM | c.*384-62G>T (p.=) c.5320-62G>T (p.=) n.1535-62G>T n.724-62G>T n.549-62G>T c.1276-62G>T (p.=) c.5155-62G>T (p.=) c.4276-62G>T (p.=) c.4012-62G>T (p.=) c.5319-60G>T (p.=) c.391-62G>T (p.=) c.*1-62G>T (p.=) n.5920-62G>T | dbSNP |
| 11 | g.108302798A= | CA1998799481 | ATM | c.*384-55A= (p.=) c.5320-55A= (p.=) n.1535-55A= n.724-55A= n.549-55A= c.1276-55A= (p.=) c.5155-55A= (p.=) c.4276-55A= (p.=) c.4012-55A= (p.=) c.5319-53A= (p.=) c.391-55A= (p.=) c.*1-55A= (p.=) n.5920-55A= | |
| 11 | g.108302798A>C | CA671413482 | ATM | c.*384-55A>C (p.=) c.5320-55A>C (p.=) n.1535-55A>C n.724-55A>C n.549-55A>C c.1276-55A>C (p.=) c.5155-55A>C (p.=) c.4276-55A>C (p.=) c.4012-55A>C (p.=) c.5319-53A>C (p.=) c.391-55A>C (p.=) c.*1-55A>C (p.=) n.5920-55A>C | |
| 11 | g.108302799G>A | CA1998799483 | ATM | c.*384-54G>A (p.=) c.5320-54G>A (p.=) n.1535-54G>A n.724-54G>A n.549-54G>A c.1276-54G>A (p.=) c.5155-54G>A (p.=) c.4276-54G>A (p.=) c.4012-54G>A (p.=) c.5319-52G>A (p.=) c.391-54G>A (p.=) c.*1-54G>A (p.=) n.5920-54G>A | |
| 11 | g.108302799G= | CA1998799482 | ATM | c.*384-54G= (p.=) c.5320-54G= (p.=) n.1535-54G= n.724-54G= n.549-54G= c.1276-54G= (p.=) c.5155-54G= (p.=) c.4276-54G= (p.=) c.4012-54G= (p.=) c.5319-52G= (p.=) c.391-54G= (p.=) c.*1-54G= (p.=) n.5920-54G= | |
| 11 | g.108302799G>T | CA1998799485 | ATM | c.*384-54G>T (p.=) c.5320-54G>T (p.=) n.1535-54G>T n.724-54G>T n.549-54G>T c.1276-54G>T (p.=) c.5155-54G>T (p.=) c.4276-54G>T (p.=) c.4012-54G>T (p.=) c.5319-52G>T (p.=) c.391-54G>T (p.=) c.*1-54G>T (p.=) n.5920-54G>T | |
| 11 | g.108302800G>A | CA671413483 | ATM | c.*384-53G>A (p.=) c.5320-53G>A (p.=) n.1535-53G>A n.724-53G>A n.549-53G>A c.1276-53G>A (p.=) c.5155-53G>A (p.=) c.4276-53G>A (p.=) c.4012-53G>A (p.=) c.5319-51G>A (p.=) c.391-53G>A (p.=) c.*1-53G>A (p.=) n.5920-53G>A | |
| 11 | g.108302800G= | CA1998799488 | ATM | c.*384-53G= (p.=) c.5320-53G= (p.=) n.1535-53G= n.724-53G= n.549-53G= c.1276-53G= (p.=) c.5155-53G= (p.=) c.4276-53G= (p.=) c.4012-53G= (p.=) c.5319-51G= (p.=) c.391-53G= (p.=) c.*1-53G= (p.=) n.5920-53G= | |
| 11 | g.108302802A= | CA1998799490 | ATM | c.*384-51A= (p.=) c.5320-51A= (p.=) n.1535-51A= n.724-51A= n.549-51A= c.1276-51A= (p.=) c.5155-51A= (p.=) c.4276-51A= (p.=) c.4012-51A= (p.=) c.5319-49A= (p.=) c.391-51A= (p.=) c.*1-51A= (p.=) n.5920-51A= | |
| 11 | g.108302802A>G | CA6265687 | ATM | c.*384-51A>G (p.=) c.5320-51A>G (p.=) n.1535-51A>G n.724-51A>G n.549-51A>G c.1276-51A>G (p.=) c.5155-51A>G (p.=) c.4276-51A>G (p.=) c.4012-51A>G (p.=) c.5319-49A>G (p.=) c.391-51A>G (p.=) c.*1-51A>G (p.=) n.5920-51A>G | dbSNP ExAC gnomAD |
| 11 | g.108302805A= | CA1998799492 | ATM | c.*384-48A= (p.=) c.5320-48A= (p.=) n.1535-48A= n.724-48A= n.549-48A= c.1276-48A= (p.=) c.5155-48A= (p.=) c.4276-48A= (p.=) c.4012-48A= (p.=) c.5319-46A= (p.=) c.391-48A= (p.=) c.*1-48A= (p.=) n.5920-48A= | |
| 11 | g.108302805A>G | CA6265688 | ATM | c.*384-48A>G (p.=) c.5320-48A>G (p.=) n.1535-48A>G n.724-48A>G n.549-48A>G c.1276-48A>G (p.=) c.5155-48A>G (p.=) c.4276-48A>G (p.=) c.4012-48A>G (p.=) c.5319-46A>G (p.=) c.391-48A>G (p.=) c.*1-48A>G (p.=) n.5920-48A>G | dbSNP ExAC gnomAD |
| 11 | g.108302806T>A | CA228388237 | ATM | c.*384-47T>A (p.=) c.5320-47T>A (p.=) n.1535-47T>A n.724-47T>A n.549-47T>A c.1276-47T>A (p.=) c.5155-47T>A (p.=) c.4276-47T>A (p.=) c.4012-47T>A (p.=) c.5319-45T>A (p.=) c.391-47T>A (p.=) c.*1-47T>A (p.=) n.5920-47T>A | dbSNP gnomAD |
| 11 | g.108302806T= | CA1998799494 | ATM | c.*384-47T= (p.=) c.5320-47T= (p.=) n.1535-47T= n.724-47T= n.549-47T= c.1276-47T= (p.=) c.5155-47T= (p.=) c.4276-47T= (p.=) c.4012-47T= (p.=) c.5319-45T= (p.=) c.391-47T= (p.=) c.*1-47T= (p.=) n.5920-47T= | |
| 11 | g.108302810T>C | CA6265689 | ATM | c.*384-43T>C (p.=) c.5320-43T>C (p.=) n.1535-43T>C n.724-43T>C n.549-43T>C c.1276-43T>C (p.=) c.5155-43T>C (p.=) c.4276-43T>C (p.=) c.4012-43T>C (p.=) c.5319-41T>C (p.=) c.391-43T>C (p.=) c.*1-43T>C (p.=) n.5920-43T>C | dbSNP ExAC gnomAD |
| 11 | g.108302810T= | CA1998799496 | ATM | c.*384-43T= (p.=) c.5320-43T= (p.=) n.1535-43T= n.724-43T= n.549-43T= c.1276-43T= (p.=) c.5155-43T= (p.=) c.4276-43T= (p.=) c.4012-43T= (p.=) c.5319-41T= (p.=) c.391-43T= (p.=) c.*1-43T= (p.=) n.5920-43T= | |
| 11 | g.108302814_108302819delinsACTTCT | CA1998799498 | ATM | c.*384-39_*384-34delinsACTTCT (p.=) c.5320-39_5320-34delinsACTTCT (p.=) n.1535-39_1535-34delinsACTTCT n.724-39_724-34delinsACTTCT n.549-39_549-34delinsACTTCT c.1276-39_1276-34delinsACTTCT (p.=) c.5155-39_5155-34delinsACTTCT (p.=) c.4276-39_4276-34delinsACTTCT (p.=) c.4012-39_4012-34delinsACTTCT (p.=) c.5319-37_5319-32delinsACTTCT (p.=) c.391-39_391-34delinsACTTCT (p.=) c.*1-39_*1-34delinsACTTCT (p.=) n.5920-39_5920-34delinsACTTCT | |
| 11 | g.108302815C>A | CA1998799500 | ATM | c.*384-38C>A (p.=) c.5320-38C>A (p.=) n.1535-38C>A n.724-38C>A n.549-38C>A c.1276-38C>A (p.=) c.5155-38C>A (p.=) c.4276-38C>A (p.=) c.4012-38C>A (p.=) c.5319-36C>A (p.=) c.391-38C>A (p.=) c.*1-38C>A (p.=) n.5920-38C>A | |
| 11 | g.108302815C= | CA1998799501 | ATM | c.*384-38C= (p.=) c.5320-38C= (p.=) n.1535-38C= n.724-38C= n.549-38C= c.1276-38C= (p.=) c.5155-38C= (p.=) c.4276-38C= (p.=) c.4012-38C= (p.=) c.5319-36C= (p.=) c.391-38C= (p.=) c.*1-38C= (p.=) n.5920-38C= | |
| 11 | g.108302818_108302822del | CA602132785 | ATM | c.*384-35_*384-31del (p.=) c.5320-35_5320-31del (p.=) n.1535-35_1535-31del n.724-35_724-31del n.549-35_549-31del c.1276-35_1276-31del (p.=) c.5155-35_5155-31del (p.=) c.4276-35_4276-31del (p.=) c.4012-35_4012-31del (p.=) c.5319-33_5319-29del (p.=) c.391-35_391-31del (p.=) c.*1-35_*1-31del (p.=) n.5920-35_5920-31del | dbSNP gnomAD |
| 11 | g.108302816T>C | CA671413511 | ATM | c.*384-37T>C (p.=) c.5320-37T>C (p.=) n.1535-37T>C n.724-37T>C n.549-37T>C c.1276-37T>C (p.=) c.5155-37T>C (p.=) c.4276-37T>C (p.=) c.4012-37T>C (p.=) c.5319-35T>C (p.=) c.391-37T>C (p.=) c.*1-37T>C (p.=) n.5920-37T>C |