Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.108284133C>A | CA228367891 | ATM | c.3747-94C>A (p.=) c.3582-94C>A (p.=) c.2703-94C>A (p.=) c.2439-94C>A (p.=) n.4480-94C>A | dbSNP |
11 | g.108284133C>G | CA671365622 | ATM | c.3747-94C>G (p.=) c.3582-94C>G (p.=) c.2703-94C>G (p.=) c.2439-94C>G (p.=) n.4480-94C>G | |
11 | g.108284137T>C | CA671365628 | ATM | c.3747-90T>C (p.=) c.3582-90T>C (p.=) c.2703-90T>C (p.=) c.2439-90T>C (p.=) n.4480-90T>C | |
11 | g.108284141_108284146del | CA228367897 | ATM | c.3747-86_3747-81del (p.=) c.3582-86_3582-81del (p.=) c.2703-86_2703-81del (p.=) c.2439-86_2439-81del (p.=) n.4480-86_4480-81del | dbSNP |
11 | g.108284147A>G | CA671365630 | ATM | c.3747-80A>G (p.=) c.3582-80A>G (p.=) c.2703-80A>G (p.=) c.2439-80A>G (p.=) n.4480-80A>G | |
11 | g.108284161C>A | CA228367902 | ATM | c.3747-66C>A (p.=) c.3582-66C>A (p.=) c.2703-66C>A (p.=) c.2439-66C>A (p.=) n.4480-66C>A | dbSNP |
11 | g.108284162_108284163del | CA671365631 | ATM | c.3747-65_3747-64del (p.=) c.3582-65_3582-64del (p.=) c.2703-65_2703-64del (p.=) c.2439-65_2439-64del (p.=) n.4480-65_4480-64del | dbSNP |
11 | g.108284163A>G | CA228367911 | ATM | c.3747-64A>G (p.=) c.3582-64A>G (p.=) c.2703-64A>G (p.=) c.2439-64A>G (p.=) n.4480-64A>G | dbSNP gnomAD |
11 | g.108284166_108284167dup | CA941943229 | ATM | c.3747-61_3747-60dup (p.=) c.3582-61_3582-60dup (p.=) c.2703-61_2703-60dup (p.=) c.2439-61_2439-60dup (p.=) n.4480-61_4480-60dup | |
11 | g.108284168A>G | CA228367927 | ATM | c.3747-59A>G (p.=) c.3582-59A>G (p.=) c.2703-59A>G (p.=) c.2439-59A>G (p.=) n.4480-59A>G | dbSNP COSMIC |
11 | g.108284180T>C | CA602132743 | ATM | c.3747-47T>C (p.=) c.3582-47T>C (p.=) c.2703-47T>C (p.=) c.2439-47T>C (p.=) n.4480-47T>C | gnomAD |
11 | g.108284183G>A | CA602132744 | ATM | c.3747-44G>A (p.=) c.3582-44G>A (p.=) c.2703-44G>A (p.=) c.2439-44G>A (p.=) n.4480-44G>A | gnomAD |
11 | g.108284183G>C | CA6265343 | ATM | c.3747-44G>C (p.=) c.3582-44G>C (p.=) c.2703-44G>C (p.=) c.2439-44G>C (p.=) n.4480-44G>C | dbSNP ExAC gnomAD |
11 | g.108284184A>T | CA602132745 | ATM | c.3747-43A>T (p.=) c.3582-43A>T (p.=) c.2703-43A>T (p.=) c.2439-43A>T (p.=) n.4480-43A>T | gnomAD |
11 | g.108284188del | CA602132746 | ATM | c.3747-39del (p.=) c.3582-39del (p.=) c.2703-39del (p.=) c.2439-39del (p.=) n.4480-39del | dbSNP gnomAD |
11 | g.108284188G>A | CA476744926 | ATM | c.3747-39G>A (p.=) c.3582-39G>A (p.=) c.2703-39G>A (p.=) c.2439-39G>A (p.=) n.4480-39G>A | gnomAD |
11 | g.108284188G>C | CA654515277 | ATM | c.3747-39G>C (p.=) c.3582-39G>C (p.=) c.2703-39G>C (p.=) c.2439-39G>C (p.=) n.4480-39G>C | COSMIC |
11 | g.108284190_108284193del | CA6265344 | ATM | c.3747-37_3747-34del (p.=) c.3582-37_3582-34del (p.=) c.2703-37_2703-34del (p.=) c.2439-37_2439-34del (p.=) n.4480-37_4480-34del | dbSNP ExAC gnomAD |
11 | g.108284192T>C | CA6265345 | ATM | c.3747-35T>C (p.=) c.3582-35T>C (p.=) c.2703-35T>C (p.=) c.2439-35T>C (p.=) n.4480-35T>C | dbSNP ExAC gnomAD |
11 | g.108284193A>G | CA253962 | ATM | c.3747-34A>G (p.=) c.3582-34A>G (p.=) c.2703-34A>G (p.=) c.2439-34A>G (p.=) n.4480-34A>G | ClinVar dbSNP ExAC gnomAD |
11 | g.108284197A>C | CA602132747 | ATM | c.3747-30A>C (p.=) c.3582-30A>C (p.=) c.2703-30A>C (p.=) c.2439-30A>C (p.=) n.4480-30A>C | gnomAD |
11 | g.108284198A>G | CA654515278 | ATM | c.3747-29A>G (p.=) c.3582-29A>G (p.=) c.2703-29A>G (p.=) c.2439-29A>G (p.=) n.4480-29A>G | COSMIC |
11 | g.108284199C>A | CA671365646 | ATM | c.3747-28C>A (p.=) c.3582-28C>A (p.=) c.2703-28C>A (p.=) c.2439-28C>A (p.=) n.4480-28C>A | |
11 | g.108284204A>G | CA671365648 | ATM | c.3747-23A>G (p.=) c.3582-23A>G (p.=) c.2703-23A>G (p.=) c.2439-23A>G (p.=) n.4480-23A>G | |
11 | g.108284211A>G | CA658683111 | ATM | c.3747-16A>G (p.=) c.3582-16A>G (p.=) c.2703-16A>G (p.=) c.2439-16A>G (p.=) n.4480-16A>G | ClinVar |
11 | g.108284212T>C | CA228367952 | ATM | c.3747-15T>C (p.=) c.3582-15T>C (p.=) c.2703-15T>C (p.=) c.2439-15T>C (p.=) n.4480-15T>C | dbSNP gnomAD |
11 | g.108284216T>C | CA913187777 | ATM | c.3747-11T>C (p.=) c.3582-11T>C (p.=) c.2703-11T>C (p.=) c.2439-11T>C (p.=) n.4480-11T>C | |
11 | g.108284217C>G | CA10582812 | ATM | c.3747-10C>G (p.=) c.3582-10C>G (p.=) c.2703-10C>G (p.=) c.2439-10C>G (p.=) n.4480-10C>G | ClinVar dbSNP gnomAD |
11 | g.108284217C>T | CA6265346 | ATM | c.3747-10C>T (p.=) c.3582-10C>T (p.=) c.2703-10C>T (p.=) c.2439-10C>T (p.=) n.4480-10C>T | dbSNP ExAC gnomAD |
11 | g.108284218T>C | CA6265347 | ATM | c.3747-9T>C (p.=) c.3582-9T>C (p.=) c.2703-9T>C (p.=) c.2439-9T>C (p.=) n.4480-9T>C | dbSNP ExAC gnomAD |
11 | g.108284219A>G | CA228367981 | ATM | c.3747-8A>G (p.=) c.3582-8A>G (p.=) c.2703-8A>G (p.=) c.2439-8A>G (p.=) n.4480-8A>G | ClinVar dbSNP |
11 | g.108284220T>C | CA16605785 | ATM | c.3747-7T>C (p.=) c.3582-7T>C (p.=) c.2703-7T>C (p.=) c.2439-7T>C (p.=) n.4480-7T>C | ClinVar |
11 | g.108284222_108284229del | CA658656246 | ATM | c.3747-5_3749del c.3582-5_3584del c.2703-5_2705del c.2439-5_2441del n.4480-5_4482del | ClinVar dbSNP |
11 | g.108284225A>C | CA382524165 | ATM | c.3747-2A>C (p.=) c.3582-2A>C (p.=) c.2703-2A>C (p.=) c.2439-2A>C (p.=) n.4480-2A>C | |
11 | g.108284225A>G | CA16041404 | ATM | c.3747-2A>G (p.=) c.3582-2A>G (p.=) c.2703-2A>G (p.=) c.2439-2A>G (p.=) n.4480-2A>G | ClinVar dbSNP |
11 | g.108284225A>T | CA382524166 | ATM | c.3747-2A>T (p.=) c.3582-2A>T (p.=) c.2703-2A>T (p.=) c.2439-2A>T (p.=) n.4480-2A>T |