Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.108251895_108260357del | CA916080444 | ATM | c.1666_2466+1282del c.1501_2301+1282del c.622_1422+1282del c.358_1158+1282del n.2399_3199+1282del | ClinVar |
11 | g.108258814C>A | CA228399566 | ATM | c.2377-172C>A (p.=) c.2212-172C>A (p.=) c.1333-172C>A (p.=) c.1069-172C>A (p.=) n.3110-172C>A | dbSNP |
11 | g.108258814C>T | CA228399570 | ATM | c.2377-172C>T (p.=) c.2212-172C>T (p.=) c.1333-172C>T (p.=) c.1069-172C>T (p.=) n.3110-172C>T | dbSNP |
11 | g.108258815A>C | CA671400847 | ATM | c.2377-171A>C (p.=) c.2212-171A>C (p.=) c.1333-171A>C (p.=) c.1069-171A>C (p.=) n.3110-171A>C | |
11 | g.108258815A>G | CA942016448 | ATM | c.2377-171A>G (p.=) c.2212-171A>G (p.=) c.1333-171A>G (p.=) c.1069-171A>G (p.=) n.3110-171A>G | |
11 | g.108258822_108258824del | CA942016449 | ATM | c.2377-164_2377-162del (p.=) c.2212-164_2212-162del (p.=) c.1333-164_1333-162del (p.=) c.1069-164_1069-162del (p.=) n.3110-164_3110-162del | |
11 | g.108258823_108258824del | CA671400853 | ATM | c.2377-163_2377-162del (p.=) c.2212-163_2212-162del (p.=) c.1333-163_1333-162del (p.=) c.1069-163_1069-162del (p.=) n.3110-163_3110-162del | dbSNP |
11 | g.108258831C>A | CA942016450 | ATM | c.2377-155C>A (p.=) c.2212-155C>A (p.=) c.1333-155C>A (p.=) c.1069-155C>A (p.=) n.3110-155C>A | |
11 | g.108258833C>A | CA942016451 | ATM | c.2377-153C>A (p.=) c.2212-153C>A (p.=) c.1333-153C>A (p.=) c.1069-153C>A (p.=) n.3110-153C>A | |
11 | g.108258843A>G | CA671400854 | ATM | c.2377-143A>G (p.=) c.2212-143A>G (p.=) c.1333-143A>G (p.=) c.1069-143A>G (p.=) n.3110-143A>G | |
11 | g.108258847G>A | CA671400867 | ATM | c.2377-139G>A (p.=) c.2212-139G>A (p.=) c.1333-139G>A (p.=) c.1069-139G>A (p.=) n.3110-139G>A | |
11 | g.108258848T>A | CA671400871 | ATM | c.2377-138T>A (p.=) c.2212-138T>A (p.=) c.1333-138T>A (p.=) c.1069-138T>A (p.=) n.3110-138T>A | |
11 | g.108258851T>C | CA601696592 | ATM | c.2377-135T>C (p.=) c.2212-135T>C (p.=) c.1333-135T>C (p.=) c.1069-135T>C (p.=) n.3110-135T>C | gnomAD |
11 | g.108258853G>T | CA228399584 | ATM | c.2377-133G>T (p.=) c.2212-133G>T (p.=) c.1333-133G>T (p.=) c.1069-133G>T (p.=) n.3110-133G>T | dbSNP gnomAD |
11 | g.108258854A>G | CA942016456 | ATM | c.2377-132A>G (p.=) c.2212-132A>G (p.=) c.1333-132A>G (p.=) c.1069-132A>G (p.=) n.3110-132A>G | |
11 | g.108258856G>A | CA942016457 | ATM | c.2377-130G>A (p.=) c.2212-130G>A (p.=) c.1333-130G>A (p.=) c.1069-130G>A (p.=) n.3110-130G>A | |
11 | g.108258857C>A | CA942016458 | ATM | c.2377-129C>A (p.=) c.2212-129C>A (p.=) c.1333-129C>A (p.=) c.1069-129C>A (p.=) n.3110-129C>A | |
11 | g.108258861A>G | CA228399588 | ATM | c.2377-125A>G (p.=) c.2212-125A>G (p.=) c.1333-125A>G (p.=) c.1069-125A>G (p.=) n.3110-125A>G | dbSNP gnomAD |
11 | g.108258865A>G | CA228399614 | ATM | c.2377-121A>G (p.=) c.2212-121A>G (p.=) c.1333-121A>G (p.=) c.1069-121A>G (p.=) n.3110-121A>G | dbSNP gnomAD |
11 | g.108258872C>G | CA228399618 | ATM | c.2377-114C>G (p.=) c.2212-114C>G (p.=) c.1333-114C>G (p.=) c.1069-114C>G (p.=) n.3110-114C>G | dbSNP gnomAD |
11 | g.108258872_108258884del | CA671400892 | ATM | c.2377-114_2377-102del (p.=) c.2212-114_2212-102del (p.=) c.1333-114_1333-102del (p.=) c.1069-114_1069-102del (p.=) n.3110-114_3110-102del | dbSNP |
11 | g.108258875T>C | CA601696595 | ATM | c.2377-111T>C (p.=) c.2212-111T>C (p.=) c.1333-111T>C (p.=) c.1069-111T>C (p.=) n.3110-111T>C | gnomAD |
11 | g.108258878T>G | CA671400893 | ATM | c.2377-108T>G (p.=) c.2212-108T>G (p.=) c.1333-108T>G (p.=) c.1069-108T>G (p.=) n.3110-108T>G | |
11 | g.108258887A>G | CA228399630 | ATM | c.2377-99A>G (p.=) c.2212-99A>G (p.=) c.1333-99A>G (p.=) c.1069-99A>G (p.=) n.3110-99A>G | dbSNP gnomAD |
11 | g.108258891A>G | CA228399634 | ATM | c.2377-95A>G (p.=) c.2212-95A>G (p.=) c.1333-95A>G (p.=) c.1069-95A>G (p.=) n.3110-95A>G | dbSNP |
11 | g.108258900C>G | CA942016468 | ATM | c.2377-86C>G (p.=) c.2212-86C>G (p.=) c.1333-86C>G (p.=) c.1069-86C>G (p.=) n.3110-86C>G | |
11 | g.108258908G>C | CA228399646 | ATM | c.2377-78G>C (p.=) c.2212-78G>C (p.=) c.1333-78G>C (p.=) c.1069-78G>C (p.=) n.3110-78G>C | dbSNP |
11 | g.108258910T>C | CA942016469 | ATM | c.2377-76T>C (p.=) c.2212-76T>C (p.=) c.1333-76T>C (p.=) c.1069-76T>C (p.=) n.3110-76T>C | |
11 | g.108258911A>G | CA228399655 | ATM | c.2377-75A>G (p.=) c.2212-75A>G (p.=) c.1333-75A>G (p.=) c.1069-75A>G (p.=) n.3110-75A>G | dbSNP |
11 | g.108258912G>C | CA942016471 | ATM | c.2377-74G>C (p.=) c.2212-74G>C (p.=) c.1333-74G>C (p.=) c.1069-74G>C (p.=) n.3110-74G>C |