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.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 | |
11 | g.108258913A>G | CA476672796 | ATM | c.2377-73A>G (p.=) c.2212-73A>G (p.=) c.1333-73A>G (p.=) c.1069-73A>G (p.=) n.3110-73A>G | |
11 | g.108258918A>C | CA671400907 | ATM | c.2377-68A>C (p.=) c.2212-68A>C (p.=) c.1333-68A>C (p.=) c.1069-68A>C (p.=) n.3110-68A>C | |
11 | g.108258919C>T | CA228399670 | ATM | c.2377-67C>T (p.=) c.2212-67C>T (p.=) c.1333-67C>T (p.=) c.1069-67C>T (p.=) n.3110-67C>T | dbSNP |
11 | g.108258920A>G | CA601696597 | ATM | c.2377-66A>G (p.=) c.2212-66A>G (p.=) c.1333-66A>G (p.=) c.1069-66A>G (p.=) n.3110-66A>G | gnomAD |
11 | g.108258923G>C | CA671400919 | ATM | c.2377-63G>C (p.=) c.2212-63G>C (p.=) c.1333-63G>C (p.=) c.1069-63G>C (p.=) n.3110-63G>C | |
11 | g.108258926T>A | CA228399675 | ATM | c.2377-60T>A (p.=) c.2212-60T>A (p.=) c.1333-60T>A (p.=) c.1069-60T>A (p.=) n.3110-60T>A | dbSNP |
11 | g.108258928C>A | CA671400924 | ATM | c.2377-58C>A (p.=) c.2212-58C>A (p.=) c.1333-58C>A (p.=) c.1069-58C>A (p.=) n.3110-58C>A | |
11 | g.108258929C>T | CA671400927 | ATM | c.2377-57C>T (p.=) c.2212-57C>T (p.=) c.1333-57C>T (p.=) c.1069-57C>T (p.=) n.3110-57C>T | |
11 | g.108258930A>G | CA15683344 | ATM | c.2377-56A>G (p.=) c.2212-56A>G (p.=) c.1333-56A>G (p.=) c.1069-56A>G (p.=) n.3110-56A>G | dbSNP gnomAD |
11 | g.108258930A>T | CA671400930 | ATM | c.2377-56A>T (p.=) c.2212-56A>T (p.=) c.1333-56A>T (p.=) c.1069-56A>T (p.=) n.3110-56A>T | |
11 | g.108258934A>G | CA228399687 | ATM | c.2377-52A>G (p.=) c.2212-52A>G (p.=) c.1333-52A>G (p.=) c.1069-52A>G (p.=) n.3110-52A>G | dbSNP |
11 | g.108258936A>C | CA601696600 | ATM | c.2377-50A>C (p.=) c.2212-50A>C (p.=) c.1333-50A>C (p.=) c.1069-50A>C (p.=) n.3110-50A>C | gnomAD |
11 | g.108258937A>T | CA6265011 | ATM | c.2377-49A>T (p.=) c.2212-49A>T (p.=) c.1333-49A>T (p.=) c.1069-49A>T (p.=) n.3110-49A>T | dbSNP ExAC gnomAD |
11 | g.108258941T>A | CA6265012 | ATM | c.2377-45T>A (p.=) c.2212-45T>A (p.=) c.1333-45T>A (p.=) c.1069-45T>A (p.=) n.3110-45T>A | dbSNP ExAC |
11 | g.108258949dup | CA671400934 | ATM | c.2377-37dup (p.=) c.2212-37dup (p.=) c.1333-37dup (p.=) c.1069-37dup (p.=) n.3110-37dup | dbSNP |
11 | g.108258948T>G | CA228399703 | ATM | c.2377-38T>G (p.=) c.2212-38T>G (p.=) c.1333-38T>G (p.=) c.1069-38T>G (p.=) n.3110-38T>G | dbSNP gnomAD |
11 | g.108258948_108258962del | CA601696602 | ATM | c.2377-38_2377-24del (p.=) c.2212-38_2212-24del (p.=) c.1333-38_1333-24del (p.=) c.1069-38_1069-24del (p.=) n.3110-38_3110-24del | dbSNP gnomAD |
11 | g.108258950C>G | CA671400943 | ATM | c.2377-36C>G (p.=) c.2212-36C>G (p.=) c.1333-36C>G (p.=) c.1069-36C>G (p.=) n.3110-36C>G | |
11 | g.108258950C>T | CA601696605 | ATM | c.2377-36C>T (p.=) c.2212-36C>T (p.=) c.1333-36C>T (p.=) c.1069-36C>T (p.=) n.3110-36C>T | gnomAD |
11 | g.108258952T>C | CA6265013 | ATM | c.2377-34T>C (p.=) c.2212-34T>C (p.=) c.1333-34T>C (p.=) c.1069-34T>C (p.=) n.3110-34T>C | dbSNP ExAC gnomAD |
11 | g.108258957G>C | CA6265014 | ATM | c.2377-29G>C (p.=) c.2212-29G>C (p.=) c.1333-29G>C (p.=) c.1069-29G>C (p.=) n.3110-29G>C | dbSNP ExAC gnomAD |
11 | g.108258966_108258967del | CA918963772 | ATM | c.2377-20_2377-19del (p.=) c.2212-20_2212-19del (p.=) c.1333-20_1333-19del (p.=) c.1069-20_1069-19del (p.=) n.3110-20_3110-19del | dbSNP |
11 | g.108258966_108258969del | CA298012 | ATM | c.2377-20_2377-17del (p.=) c.2212-20_2212-17del (p.=) c.1333-20_1333-17del (p.=) c.1069-20_1069-17del (p.=) n.3110-20_3110-17del | ClinVar dbSNP ExAC gnomAD |
11 | g.108258967T>G | CA6265015 | ATM | c.2377-19T>G (p.=) c.2212-19T>G (p.=) c.1333-19T>G (p.=) c.1069-19T>G (p.=) n.3110-19T>G | ClinVar dbSNP ExAC gnomAD |
11 | g.108258968T>C | CA6265016 | ATM | c.2377-18T>C (p.=) c.2212-18T>C (p.=) c.1333-18T>C (p.=) c.1069-18T>C (p.=) n.3110-18T>C | ClinVar dbSNP ExAC gnomAD |
11 | g.108258969G>C | CA1139662169 | ATM | c.2377-17G>C (p.=) c.2212-17G>C (p.=) c.1333-17G>C (p.=) c.1069-17G>C (p.=) n.3110-17G>C | ClinVar |
11 | g.108258969G>T | CA6265017 | ATM | c.2377-17G>T (p.=) c.2212-17G>T (p.=) c.1333-17G>T (p.=) c.1069-17G>T (p.=) n.3110-17G>T | dbSNP ExAC |
11 | g.108258970T>A | CA228399748 | ATM | c.2377-16T>A (p.=) c.2212-16T>A (p.=) c.1333-16T>A (p.=) c.1069-16T>A (p.=) n.3110-16T>A | dbSNP gnomAD |
11 | g.108258971T>C | CA913188491 | ATM | c.2377-15T>C (p.=) c.2212-15T>C (p.=) c.1333-15T>C (p.=) c.1069-15T>C (p.=) n.3110-15T>C | ClinVar |
11 | g.108258973G>C | CA601696610 | ATM | c.2377-13G>C (p.=) c.2212-13G>C (p.=) c.1333-13G>C (p.=) c.1069-13G>C (p.=) n.3110-13G>C | gnomAD |
11 | g.108258975C>G | CA913188492 | ATM | c.2377-11C>G (p.=) c.2212-11C>G (p.=) c.1333-11C>G (p.=) c.1069-11C>G (p.=) n.3110-11C>G | ClinVar |
11 | g.108258977T>A | CA1139662170 | ATM | c.2377-9T>A (p.=) c.2212-9T>A (p.=) c.1333-9T>A (p.=) c.1069-9T>A (p.=) n.3110-9T>A | ClinVar |
11 | g.108258979A>G | CA913188493 | ATM | c.2377-7A>G (p.=) c.2212-7A>G (p.=) c.1333-7A>G (p.=) c.1069-7A>G (p.=) n.3110-7A>G | ClinVar |
11 | g.108258980T>A | CA10577426 | ATM | c.2377-6T>A (p.=) c.2212-6T>A (p.=) c.1333-6T>A (p.=) c.1069-6T>A (p.=) n.3110-6T>A | ClinVar dbSNP gnomAD |
11 | g.108258981T>C | CA6265018 | ATM | c.2377-5T>C (p.=) c.2212-5T>C (p.=) c.1333-5T>C (p.=) c.1069-5T>C (p.=) n.3110-5T>C | ClinVar dbSNP ExAC gnomAD |
11 | g.108258984A>C | CA382540983 | ATM | c.2377-2A>C (p.=) c.2212-2A>C (p.=) c.1333-2A>C (p.=) c.1069-2A>C (p.=) n.3110-2A>C | |
11 | g.108258984A>G | CA16041391 | ATM | c.2377-2A>G (p.=) c.2212-2A>G (p.=) c.1333-2A>G (p.=) c.1069-2A>G (p.=) n.3110-2A>G | ClinVar dbSNP |
11 | g.108258984A>T | CA382540985 | ATM | c.2377-2A>T (p.=) c.2212-2A>T (p.=) c.1333-2A>T (p.=) c.1069-2A>T (p.=) n.3110-2A>T | |
11 | g.108258985G>A | CA382540989 | ATM | c.2377-1G>A (p.=) c.2212-1G>A (p.=) c.1333-1G>A (p.=) c.1069-1G>A (p.=) n.3110-1G>A | COSMIC COSMIC |
11 | g.108258985G>C | CA382540992 | ATM | c.2377-1G>C (p.=) c.2212-1G>C (p.=) c.1333-1G>C (p.=) c.1069-1G>C (p.=) n.3110-1G>C | |
11 | g.108258985G>T | CA382540993 | ATM | c.2377-1G>T (p.=) c.2212-1G>T (p.=) c.1333-1G>T (p.=) c.1069-1G>T (p.=) n.3110-1G>T | |
11 | g.108258986A>C | CA382540996 | ATM | c.2377A>C (p.Lys793Gln) c.2212A>C (p.Lys738Gln) c.1333A>C (p.Lys445Gln) c.1069A>C (p.Lys357Gln) n.3110A>C | ClinVar |
11 | g.108258986A>G | CA164793 | ATM | c.2377A>G (p.Lys793Glu) c.2212A>G (p.Lys738Glu) c.1333A>G (p.Lys445Glu) c.1069A>G (p.Lys357Glu) n.3110A>G | ClinVar dbSNP gnomAD |
11 | g.108258986A>T | CA382540998 | ATM | c.2377A>T (p.Lys793Ter) c.2212A>T (p.Lys738Ter) c.1333A>T (p.Lys445Ter) c.1069A>T (p.Lys357Ter) n.3110A>T | |
11 | g.108258986_108258987dup | CA16041392 | ATM | c.2377_2378dup (p.Ser794ArgfsTer15) c.2212_2213dup (p.Ser739ArgfsTer15) c.1333_1334dup (p.Ser446ArgfsTer15) c.1069_1070dup (p.Ser358ArgfsTer15) n.3110_3111dup | ClinVar dbSNP |
11 | g.108258987A>C | CA382541004 | ATM | c.2378A>C (p.Lys793Thr) c.2213A>C (p.Lys738Thr) c.1334A>C (p.Lys445Thr) c.1070A>C (p.Lys357Thr) n.3111A>C | |
11 | g.108258987A>G | CA382541002 | ATM | c.2378A>G (p.Lys793Arg) c.2213A>G (p.Lys738Arg) c.1334A>G (p.Lys445Arg) c.1070A>G (p.Lys357Arg) n.3111A>G | COSMIC COSMIC |
11 | g.108258987A>T | CA382541000 | ATM | c.2378A>T (p.Lys793Met) c.2213A>T (p.Lys738Met) c.1334A>T (p.Lys445Met) c.1070A>T (p.Lys357Met) n.3111A>T |