Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.44908459_44908478dup | CA996247427 | APOE | c.237-74_237-55dup (n.237-74_237-55dup) c.315-74_315-55dup (n.315-74_315-55dup) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.44908456_44908480delinsCCCCATCTCGCCCGCCCCATCCCAG | CA2338167781 | APOE | c.237-77_237-53delinsCCCCATCTCGCCCGCCCCATCCCAG (n.237-77_237-53delinsCCCCATCTCGCCCGCCCCATCCCAG) c.315-77_315-53delinsCCCCATCTCGCCCGCCCCATCCCAG (n.315-77_315-53delinsCCCCATCTCGCCCGCCCCATCCCAG) | |
19 | g.44908460_44908483del | CA633478344 | APOE | c.237-73_237-50del (n.237-73_237-50del) c.315-73_315-50del (n.315-73_315-50del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.44908466_44908525del | CA2585715387 | APOE | c.237-67_237-8del (n.237-67_237-8del) c.315-67_315-8del (n.315-67_315-8del) | gnomAD v4 |
19 | g.44908474_44908476del | CA2814526230 | APOE | c.237-59_237-57del (n.237-59_237-57del) c.315-59_315-57del (n.315-59_315-57del) | |
19 | g.44908474_44908488del | CA2585715399 | APOE | c.237-59_237-45del (n.237-59_237-45del) c.315-59_315-45del (n.315-59_315-45del) | gnomAD v4 |
19 | g.44908474A= | CA2338167790 | APOE | c.237-59A= (n.237-59A=) c.315-59A= (n.315-59A=) | |
19 | g.44908474A>C | CA996247439 | APOE | c.237-59A>C (n.237-59A>C) c.315-59A>C (n.315-59A>C) | gnomAD v3 gnomAD v4 |
19 | g.44908474A>G | CA308885071 | APOE | c.237-59A>G (n.237-59A>G) c.315-59A>G (n.315-59A>G) | dbSNP |
19 | g.44908474A>T | CA2585715401 | APOE | c.237-59A>T (n.237-59A>T) c.315-59A>T (n.315-59A>T) | gnomAD v4 |
19 | g.44908475T>A | CA2576812043 | APOE | c.237-58T>A (n.237-58T>A) c.315-58T>A (n.315-58T>A) | gnomAD v4 |
19 | g.44908475T>C | CA2338167792 | APOE | c.237-58T>C (n.237-58T>C) c.315-58T>C (n.315-58T>C) | dbSNP |
19 | g.44908475T>G | CA2585715402 | APOE | c.237-58T>G (n.237-58T>G) c.315-58T>G (n.315-58T>G) | gnomAD v4 |
19 | g.44908475T= | CA2338167791 | APOE | c.237-58T= (n.237-58T=) c.315-58T= (n.315-58T=) | |
19 | g.44908476C>A | CA2512941142 | APOE | c.237-57C>A (n.237-57C>A) c.315-57C>A (n.315-57C>A) | gnomAD v4 |
19 | g.44908478del | CA2585715403 | APOE | c.237-55del (n.237-55del) c.315-55del (n.315-55del) | gnomAD v4 |
19 | g.44908477C>A | CA2576812044 | APOE | c.237-56C>A (n.237-56C>A) c.315-56C>A (n.315-56C>A) | |
19 | g.44908477C= | CA2338167794 | APOE | c.237-56C= (n.237-56C=) c.315-56C= (n.315-56C=) | |
19 | g.44908477C>G | CA2338167793 | APOE | c.237-56C>G (n.237-56C>G) c.315-56C>G (n.315-56C>G) | dbSNP gnomAD v4 |
19 | g.44908478C>A | CA2585715404 | APOE | c.237-55C>A (n.237-55C>A) c.315-55C>A (n.315-55C>A) | gnomAD v4 |
19 | g.44908478C>G | CA2585715405 | APOE | c.237-55C>G (n.237-55C>G) c.315-55C>G (n.315-55C>G) | gnomAD v4 |
19 | g.44908479A>C | CA996247440 | APOE | c.237-54A>C (n.237-54A>C) c.315-54A>C (n.315-54A>C) | gnomAD v3 gnomAD v4 |
19 | g.44908479dup | CA2585715406 | APOE | c.237-54dup (n.237-54dup) c.315-54dup (n.315-54dup) | gnomAD v4 |
19 | g.44908480G>C | CA2585715407 | APOE | c.237-53G>C (n.237-53G>C) c.315-53G>C (n.315-53G>C) | gnomAD v4 |
19 | g.44908480G>T | CA2585715408 | APOE | c.237-53G>T (n.237-53G>T) c.315-53G>T (n.315-53G>T) | gnomAD v4 |
19 | g.44908481C>A | CA2840306752 | APOE | c.237-52C>A (n.237-52C>A) c.315-52C>A (n.315-52C>A) | |
19 | g.44908483C>A | CA2576812045 | APOE | c.237-50C>A (n.237-50C>A) c.315-50C>A (n.315-50C>A) | |
19 | g.44908484T>A | CA2576812046 | APOE | c.237-49T>A (n.237-49T>A) c.315-49T>A (n.315-49T>A) | gnomAD v4 |
19 | g.44908484T>C | CA2576812047 | APOE | c.237-49T>C (n.237-49T>C) c.315-49T>C (n.315-49T>C) | gnomAD v4 |
19 | g.44908484T>G | CA2585715409 | APOE | c.237-49T>G (n.237-49T>G) c.315-49T>G (n.315-49T>G) | gnomAD v4 |
19 | g.44908485T>A | CA2585715410 | APOE | c.237-48T>A (n.237-48T>A) c.315-48T>A (n.315-48T>A) | gnomAD v4 |
19 | g.44908486C>A | CA2576812048 | APOE | c.237-47C>A (n.237-47C>A) c.315-47C>A (n.315-47C>A) | gnomAD v4 |
19 | g.44908486_44908487insG | CA2585715411 | APOE | c.237-47_237-46insG (n.237-47_237-46insG) c.315-47_315-46insG (n.315-47_315-46insG) | gnomAD v4 |
19 | g.44908487T>A | CA2585715412 | APOE | c.237-46T>A (n.237-46T>A) c.315-46T>A (n.315-46T>A) | gnomAD v4 |
19 | g.44908487T>C | CA2338167796 | APOE | c.237-46T>C (n.237-46T>C) c.315-46T>C (n.315-46T>C) | dbSNP |
19 | g.44908487T= | CA2338167795 | APOE | c.237-46T= (n.237-46T=) c.315-46T= (n.315-46T=) | |
19 | g.44908488C>A | CA9506014 | APOE | c.237-45C>A (n.237-45C>A) c.315-45C>A (n.315-45C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.44908488C= | CA2338167797 | APOE | c.237-45C= (n.237-45C=) c.315-45C= (n.315-45C=) | |
19 | g.44908488C>T | CA9506013 | APOE | c.237-45C>T (n.237-45C>T) c.315-45C>T (n.315-45C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.44908489C>T | CA2585715413 | APOE | c.237-44C>T (n.237-44C>T) c.315-44C>T (n.315-44C>T) | gnomAD v4 |
19 | g.44908490C= | CA2338167798 | APOE | c.237-43C= (n.237-43C=) c.315-43C= (n.315-43C=) | |
19 | g.44908490C>G | CA308885103 | APOE | c.237-43C>G (n.237-43C>G) c.315-43C>G (n.315-43C>G) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.44908491C>A | CA2576812049 | APOE | c.237-42C>A (n.237-42C>A) c.315-42C>A (n.315-42C>A) | |
19 | g.44908491C= | CA2338167799 | APOE | c.237-42C= (n.237-42C=) c.315-42C= (n.315-42C=) | |
19 | g.44908491C>G | CA996247445 | APOE | c.237-42C>G (n.237-42C>G) c.315-42C>G (n.315-42C>G) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.44908491C>T | CA9506015 | APOE | c.237-42C>T (n.237-42C>T) c.315-42C>T (n.315-42C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.44908492G>A | CA996247454 | APOE | c.237-41G>A (n.237-41G>A) c.315-41G>A (n.315-41G>A) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.44908492G>C | CA2576812050 | APOE | c.237-41G>C (n.237-41G>C) c.315-41G>C (n.315-41G>C) | gnomAD v4 |
19 | g.44908492G= | CA2338167800 | APOE | c.237-41G= (n.237-41G=) c.315-41G= (n.315-41G=) | |
19 | g.44908492G>T | CA2840306753 | APOE | c.237-41G>T (n.237-41G>T) c.315-41G>T (n.315-41G>T) | |
19 | g.44908493C= | CA2338167802 | APOE | c.237-40C= (n.237-40C=) c.315-40C= (n.315-40C=) | |
19 | g.44908493C>T | CA308885115 | APOE | c.237-40C>T (n.237-40C>T) c.315-40C>T (n.315-40C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.44908499_44908516dup | CA2338167801 | APOE | c.237-34_237-17dup (n.237-34_237-17dup) c.315-34_315-17dup (n.315-34_315-17dup) | dbSNP gnomAD v4 |
19 | g.44908495T>A | CA2576812051 | APOE | c.237-38T>A (n.237-38T>A) c.315-38T>A (n.315-38T>A) | gnomAD v4 |
19 | g.44908495T>C | CA2585715414 | APOE | c.237-38T>C (n.237-38T>C) c.315-38T>C (n.315-38T>C) | gnomAD v4 |
19 | g.44908496C= | CA2338167803 | APOE | c.237-37C= (n.237-37C=) c.315-37C= (n.315-37C=) | |
19 | g.44908496C>T | CA633478345 | APOE | c.237-37C>T (n.237-37C>T) c.315-37C>T (n.315-37C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.44908497C>G | CA2735932591 | APOE | c.237-36C>G (n.237-36C>G) c.315-36C>G (n.315-36C>G) | dbSNP |
19 | g.44908499A= | CA2338167804 | APOE | c.237-34A= (n.237-34A=) c.315-34A= (n.315-34A=) | |
19 | g.44908499A>C | CA996247462 | APOE | c.237-34A>C (n.237-34A>C) c.315-34A>C (n.315-34A>C) | gnomAD v3 gnomAD v4 |
19 | g.44908499A>T | CA996247464 | APOE | c.237-34A>T (n.237-34A>T) c.315-34A>T (n.315-34A>T) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.44908501T>A | CA2585715415 | APOE | c.237-32T>A (n.237-32T>A) c.315-32T>A (n.315-32T>A) | gnomAD v4 |
19 | g.44908501T>C | CA633478346 | APOE | c.237-32T>C (n.237-32T>C) c.315-32T>C (n.315-32T>C) | dbSNP gnomAD v2 |
19 | g.44908501T= | CA2338167805 | APOE | c.237-32T= (n.237-32T=) c.315-32T= (n.315-32T=) | |
19 | g.44908504G>A | CA9506016 | APOE | c.237-29G>A (n.237-29G>A) c.315-29G>A (n.315-29G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.44908504G>C | CA9506017 | APOE | c.237-29G>C (n.237-29G>C) c.315-29G>C (n.315-29G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.44908504G= | CA2338167806 | APOE | c.237-29G= (n.237-29G=) c.315-29G= (n.315-29G=) | |
19 | g.44908505C>A | CA2585715416 | APOE | c.237-28C>A (n.237-28C>A) c.315-28C>A (n.315-28C>A) | gnomAD v4 |
19 | g.44908505C= | CA2338167807 | APOE | c.237-28C= (n.237-28C=) c.315-28C= (n.315-28C=) | |
19 | g.44908505C>T | CA9506018 | APOE | c.237-28C>T (n.237-28C>T) c.315-28C>T (n.315-28C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.44908506G>A | CA2338167808 | APOE | c.237-27G>A (n.237-27G>A) c.315-27G>A (n.315-27G>A) | dbSNP gnomAD v4 |
19 | g.44908506G= | CA2338167809 | APOE | c.237-27G= (n.237-27G=) c.315-27G= (n.315-27G=) | |
19 | g.44908506G>T | CA308885163 | APOE | c.237-27G>T (n.237-27G>T) c.315-27G>T (n.315-27G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.44908508C= | CA2338167810 | APOE | c.237-25C= (n.237-25C=) c.315-25C= (n.315-25C=) | |
19 | g.44908508C>T | CA2338167811 | APOE | c.237-25C>T (n.237-25C>T) c.315-25C>T (n.315-25C>T) | dbSNP gnomAD v4 |
19 | g.44908509A= | CA2338167812 | APOE | c.237-24A= (n.237-24A=) c.315-24A= (n.315-24A=) | |
19 | g.44908509A>C | CA882663613 | APOE | c.237-24A>C (n.237-24A>C) c.315-24A>C (n.315-24A>C) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.44908511C>T | CA2585715417 | APOE | c.237-22C>T (n.237-22C>T) c.315-22C>T (n.315-22C>T) | gnomAD v4 |
19 | g.44908512C>A | CA2576812052 | APOE | c.237-21C>A (n.237-21C>A) c.315-21C>A (n.315-21C>A) | |
19 | g.44908512C= | CA2338167813 | APOE | c.237-21C= (n.237-21C=) c.315-21C= (n.315-21C=) | |
19 | g.44908512C>T | CA633478347 | APOE | c.237-21C>T (n.237-21C>T) c.315-21C>T (n.315-21C>T) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.44908513T>A | CA2585715418 | APOE | c.237-20T>A (n.237-20T>A) c.315-20T>A (n.315-20T>A) | gnomAD v4 |
19 | g.44908513_44908517delinsTCCCG | CA2338167814 | APOE | c.237-20_237-16delinsTCCCG (n.237-20_237-16delinsTCCCG) c.315-20_315-16delinsTCCCG (n.315-20_315-16delinsTCCCG) | |
19 | g.44908514C>A | CA2814526231 | APOE | c.237-19C>A (n.237-19C>A) c.315-19C>A (n.315-19C>A) | |
19 | g.44908514C>G | CA2585715420 | APOE | c.237-19C>G (n.237-19C>G) c.315-19C>G (n.315-19C>G) | dbSNP gnomAD v4 |
19 | g.44908516dup | CA2585715419 | APOE | c.237-17dup (n.237-17dup) c.315-17dup (n.315-17dup) | gnomAD v4 |
19 | g.44908517_44908520del | CA9506019 | APOE | c.237-16_237-13del (n.237-16_237-13del) c.315-16_315-13del (n.315-16_315-13del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.44908515C>A | CA2585715421 | APOE | c.237-18C>A (n.237-18C>A) c.315-18C>A (n.315-18C>A) | gnomAD v4 |
19 | g.44908516C>A | CA2585715422 | APOE | c.237-17C>A (n.237-17C>A) c.315-17C>A (n.315-17C>A) | gnomAD v4 |
19 | g.44908516C= | CA2338167815 | APOE | c.237-17C= (n.237-17C=) c.315-17C= (n.315-17C=) | |
19 | g.44908516C>G | CA2585715423 | APOE | c.237-17C>G (n.237-17C>G) c.315-17C>G (n.315-17C>G) | gnomAD v4 |
19 | g.44908516C>T | CA9506020 | APOE | c.237-17C>T (n.237-17C>T) c.315-17C>T (n.315-17C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.44908517G>A | CA882663620 | APOE | c.237-16G>A (n.237-16G>A) c.315-16G>A (n.315-16G>A) | dbSNP gnomAD v4 |
19 | g.44908517G>C | CA2585715424 | APOE | c.237-16G>C (n.237-16G>C) c.315-16G>C (n.315-16G>C) | gnomAD v4 |
19 | g.44908517G= | CA2338167816 | APOE | c.237-16G= (n.237-16G=) c.315-16G= (n.315-16G=) | |
19 | g.44908517G>T | CA9506021 | APOE | c.237-16G>T (n.237-16G>T) c.315-16G>T (n.315-16G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.44908518C>G | CA2585715425 | APOE | c.237-15C>G (n.237-15C>G) c.315-15C>G (n.315-15C>G) | gnomAD v4 |
19 | g.44908519C>A | CA2585715426 | APOE | c.237-14C>A (n.237-14C>A) c.315-14C>A (n.315-14C>A) | gnomAD v4 |
19 | g.44908519C= | CA2338167817 | APOE | c.237-14C= (n.237-14C=) c.315-14C= (n.315-14C=) | |
19 | g.44908519C>T | CA633478348 | APOE | c.237-14C>T (n.237-14C>T) c.315-14C>T (n.315-14C>T) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.44908520C= | CA2338167818 | APOE | c.237-13C= (n.237-13C=) c.315-13C= (n.315-13C=) | |
19 | g.44908520C>T | CA9506022 | APOE | c.237-13C>T (n.237-13C>T) c.315-13C>T (n.315-13C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.44908521T>A | CA2585715427 | APOE | c.237-12T>A (n.237-12T>A) c.315-12T>A (n.315-12T>A) | gnomAD v4 |
19 | g.44908521T>C | CA308885178 | APOE | c.237-12T>C (n.237-12T>C) c.315-12T>C (n.315-12T>C) | dbSNP gnomAD v4 |
19 | g.44908521T= | CA2338167819 | APOE | c.237-12T= (n.237-12T=) c.315-12T= (n.315-12T=) | |
19 | g.44908522C= | CA2338167820 | APOE | c.237-11C= (n.237-11C=) c.315-11C= (n.315-11C=) | |
19 | g.44908522C>G | CA308885181 | APOE | c.237-11C>G (n.237-11C>G) c.315-11C>G (n.315-11C>G) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.44908523T>C | CA2576812053 | APOE | c.237-10T>C (n.237-10T>C) c.315-10T>C (n.315-10T>C) | |
19 | g.44908524C>G | CA2585715428 | APOE | c.237-9C>G (n.237-9C>G) c.315-9C>G (n.315-9C>G) | gnomAD v4 |
19 | g.44908525G>A | CA9506023 | APOE | c.237-8G>A (n.237-8G>A) c.315-8G>A (n.315-8G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
19 | g.44908525G>C | CA2740096928 | APOE | c.237-8G>C (n.237-8G>C) c.315-8G>C (n.315-8G>C) | ClinVar |
19 | g.44908525G= | CA2338167821 | APOE | c.237-8G= (n.237-8G=) c.315-8G= (n.315-8G=) | |
19 | g.44908525G>T | CA2585715429 | APOE | c.237-8G>T (n.237-8G>T) c.315-8G>T (n.315-8G>T) | gnomAD v4 |
19 | g.44908528C>A | CA2585715430 | APOE | c.237-5C>A (n.237-5C>A) c.315-5C>A (n.315-5C>A) | gnomAD v4 |
19 | g.44908528C= | CA2338167822 | APOE | c.237-5C= (n.237-5C=) c.315-5C= (n.315-5C=) | |
19 | g.44908528C>G | CA2338167823 | APOE | c.237-5C>G (n.237-5C>G) c.315-5C>G (n.315-5C>G) | dbSNP |
19 | g.44908528C>T | CA9506024 | APOE | c.237-5C>T (n.237-5C>T) c.315-5C>T (n.315-5C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.44908529G>A | CA2338167825 | APOE | c.237-4G>A (n.237-4G>A) c.315-4G>A (n.315-4G>A) | dbSNP gnomAD v4 |
19 | g.44908529G= | CA2338167824 | APOE | c.237-4G= (n.237-4G=) c.315-4G= (n.315-4G=) | |
19 | g.44908529G>T | CA633478349 | APOE | c.237-4G>T (n.237-4G>T) c.315-4G>T (n.315-4G>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.44908531A= | CA2338167826 | APOE | c.237-2A= (n.237-2A=) c.315-2A= (n.315-2A=) | |
19 | g.44908531A>C | CA406303608 | APOE | c.237-2A>C (n.237-2A>C) c.315-2A>C (n.315-2A>C) | |
19 | g.44908531A>G | CA127503 | APOE | c.237-2A>G (n.237-2A>G) c.315-2A>G (n.315-2A>G) | ClinVar dbSNP |
19 | g.44908531A>T | CA406303607 | APOE | c.237-2A>T (n.237-2A>T) c.315-2A>T (n.315-2A>T) | |
19 | g.44908532G>A | CA406303609 | APOE | c.237-1G>A (n.237-1G>A) c.315-1G>A (n.315-1G>A) | |
19 | g.44908532G>C | CA406303610 | APOE | c.237-1G>C (n.237-1G>C) c.315-1G>C (n.315-1G>C) | |
19 | g.44908532G>T | CA406303611 | APOE | c.237-1G>T (n.237-1G>T) c.315-1G>T (n.315-1G>T) | |
19 | g.44908533G>A | CA507947202 | APOE | c.237G>A (p.Arg79=) c.315G>A (p.Arg105=) | gnomAD v4 |
19 | g.44908533G>C | CA406303612 | APOE | c.237G>C (p.Arg79Ser) c.315G>C (p.Arg105Ser) | |
19 | g.44908533G>T | CA406303613 | APOE | c.237G>T (p.Arg79Ser) c.315G>T (p.Arg105Ser) | |
19 | g.44908534G>A | CA406303614 | APOE | c.238G>A (p.Ala80Thr) c.316G>A (p.Ala106Thr) | gnomAD v4 |
19 | g.44908534G>C | CA406303615 | APOE | c.238G>C (p.Ala80Pro) c.316G>C (p.Ala106Pro) | gnomAD v4 |
19 | g.44908534G= | CA2338167827 | APOE | c.238G= (p.Ala80=) c.316G= (p.Ala106=) | |
19 | g.44908534G>T | CA406303616 | APOE | c.238G>T (p.Ala80Ser) c.316G>T (p.Ala106Ser) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.44908535C>A | CA9506025 | APOE | c.239C>A (p.Ala80Glu) c.317C>A (p.Ala106Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.44908535C= | CA2338167828 | APOE | c.239C= (p.Ala80=) c.317C= (p.Ala106=) | |
19 | g.44908535C>G | CA406303617 | APOE | c.239C>G (p.Ala80Gly) c.317C>G (p.Ala106Gly) | dbSNP |
19 | g.44908535C>T | CA406303618 | APOE | c.239C>T (p.Ala80Val) c.317C>T (p.Ala106Val) | dbSNP COSMIC |
19 | g.44908536G>A | CA9506026 | APOE | c.240G>A (p.Ala80=) c.318G>A (p.Ala106=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.44908536G>C | CA507947204 | APOE | c.240G>C (p.Ala80=) c.318G>C (p.Ala106=) | |
19 | g.44908536G= | CA2338167829 | APOE | c.240G= (p.Ala80=) c.318G= (p.Ala106=) | |
19 | g.44908536G>T | CA507947205 | APOE | c.240G>T (p.Ala80=) c.318G>T (p.Ala106=) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.44908537C>A | CA406303619 | APOE | c.241C>A (p.Leu81Met) c.319C>A (p.Leu107Met) | |
19 | g.44908537C>G | CA406303620 | APOE | c.241C>G (p.Leu81Val) c.319C>G (p.Leu107Val) | |
19 | g.44908537C>T | CA507947206 | APOE | c.241C>T (p.Leu81=) c.319C>T (p.Leu107=) | |
19 | g.44908538T>A | CA406303621 | APOE | c.242T>A (p.Leu81Gln) c.320T>A (p.Leu107Gln) | |
19 | g.44908538T>C | CA406303622 | APOE | c.242T>C (p.Leu81Pro) c.320T>C (p.Leu107Pro) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.44908538T>G | CA406303623 | APOE | c.242T>G (p.Leu81Arg) c.320T>G (p.Leu107Arg) | |
19 | g.44908538T= | CA2338167830 | APOE | c.242T= (p.Leu81=) c.320T= (p.Leu107=) | |
19 | g.44908539G>A | CA507947209 | APOE | c.243G>A (p.Leu81=) c.321G>A (p.Leu107=) | |
19 | g.44908539G>C | CA507947210 | APOE | c.243G>C (p.Leu81=) c.321G>C (p.Leu107=) | |
19 | g.44908539G>T | CA507947211 | APOE | c.243G>T (p.Leu81=) c.321G>T (p.Leu107=) | |
19 | g.44908540A>C | CA406303624 | APOE | c.244A>C (p.Met82Leu) c.322A>C (p.Met108Leu) | |
19 | g.44908540A>G | CA406303625 | APOE | c.244A>G (p.Met82Val) c.322A>G (p.Met108Val) | |
19 | g.44908540A>T | CA406303626 | APOE | c.244A>T (p.Met82Leu) c.322A>T (p.Met108Leu) | |
19 | g.44908541T>A | CA406303627 | APOE | c.245T>A (p.Met82Lys) c.323T>A (p.Met108Lys) | |
19 | g.44908541T>C | CA406303628 | APOE | c.245T>C (p.Met82Thr) c.323T>C (p.Met108Thr) | |
19 | g.44908541T>G | CA406303629 | APOE | c.245T>G (p.Met82Arg) c.323T>G (p.Met108Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.44908541T= | CA2338167831 | APOE | c.245T= (p.Met82=) c.323T= (p.Met108=) | |
19 | g.44908542G>A | CA406303630 | APOE | c.246G>A (p.Met82Ile) c.324G>A (p.Met108Ile) | |
19 | g.44908542G>C | CA406303631 | APOE | c.246G>C (p.Met82Ile) c.324G>C (p.Met108Ile) | |
19 | g.44908542G= | CA2338167832 | APOE | c.246G= (p.Met82=) c.324G= (p.Met108=) | |
19 | g.44908542G>T | CA308885232 | APOE | c.246G>T (p.Met82Ile) c.324G>T (p.Met108Ile) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.44908543G>A | CA406303633 | APOE | c.247G>A (p.Asp83Asn) c.325G>A (p.Asp109Asn) | gnomAD v4 |
19 | g.44908543G>C | CA406303634 | APOE | c.247G>C (p.Asp83His) c.325G>C (p.Asp109His) | |
19 | g.44908543G>T | CA406303632 | APOE | c.247G>T (p.Asp83Tyr) c.325G>T (p.Asp109Tyr) | |
19 | g.44908546_44908550dup | CA2338167833 | APOE | c.250_254dup (p.Met86ArgfsTer3) c.328_332dup (p.Met112ArgfsTer3) | dbSNP |
19 | g.44908544A>C | CA406303637 | APOE | c.248A>C (p.Asp83Ala) c.326A>C (p.Asp109Ala) | |
19 | g.44908544A>G | CA406303635 | APOE | c.248A>G (p.Asp83Gly) c.326A>G (p.Asp109Gly) | |
19 | g.44908544A>T | CA406303636 | APOE | c.248A>T (p.Asp83Val) c.326A>T (p.Asp109Val) | |
19 | g.44908545C>A | CA406303638 | APOE | c.249C>A (p.Asp83Glu) c.327C>A (p.Asp109Glu) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.44908545C= | CA2338167834 | APOE | c.249C= (p.Asp83=) c.327C= (p.Asp109=) | |
19 | g.44908545C>G | CA406303639 | APOE | c.249C>G (p.Asp83Glu) c.327C>G (p.Asp109Glu) | gnomAD v4 |
19 | g.44908545C>T | CA9506027 | APOE | c.249C>T (p.Asp83=) c.327C>T (p.Asp109=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.44908546del | CA2585715431 | APOE | c.250del (p.Glu84ArgfsTer3) c.328del (p.Glu110ArgfsTer3) | gnomAD v4 |
19 | g.44908546G>A | CA308885238 | APOE | c.250G>A (p.Glu84Lys) c.328G>A (p.Glu110Lys) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.44908546G>C | CA406303640 | APOE | c.250G>C (p.Glu84Gln) c.328G>C (p.Glu110Gln) | |
19 | g.44908546G= | CA2338167835 | APOE | c.250G= (p.Glu84=) c.328G= (p.Glu110=) | |
19 | g.44908546G>T | CA406303641 | APOE | c.250G>T (p.Glu84Ter) c.328G>T (p.Glu110Ter) | gnomAD v4 |
19 | g.44908547A>C | CA406303642 | APOE | c.251A>C (p.Glu84Ala) c.329A>C (p.Glu110Ala) | |
19 | g.44908547A>G | CA406303644 | APOE | c.251A>G (p.Glu84Gly) c.329A>G (p.Glu110Gly) | |
19 | g.44908547A>T | CA406303643 | APOE | c.251A>T (p.Glu84Val) c.329A>T (p.Glu110Val) | |
19 | g.44908548G>A | CA507947219 | APOE | c.252G>A (p.Glu84=) c.330G>A (p.Glu110=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.44908548G>C | CA406303645 | APOE | c.252G>C (p.Glu84Asp) c.330G>C (p.Glu110Asp) | |
19 | g.44908548G= | CA2338167836 | APOE | c.252G= (p.Glu84=) c.330G= (p.Glu110=) | |
19 | g.44908548G>T | CA406303646 | APOE | c.252G>T (p.Glu84Asp) c.330G>T (p.Glu110Asp) | |
19 | g.44908549A>C | CA406303647 | APOE | c.253A>C (p.Thr85Pro) c.331A>C (p.Thr111Pro) | |
19 | g.44908549A>G | CA406303648 | APOE | c.253A>G (p.Thr85Ala) c.331A>G (p.Thr111Ala) | |
19 | g.44908549A>T | CA406303649 | APOE | c.253A>T (p.Thr85Ser) c.331A>T (p.Thr111Ser) | |
19 | g.44908550C>A | CA406303650 | APOE | c.254C>A (p.Thr85Asn) c.332C>A (p.Thr111Asn) | gnomAD v4 |
19 | g.44908550C>G | CA406303652 | APOE | c.254C>G (p.Thr85Ser) c.332C>G (p.Thr111Ser) | |
19 | g.44908550C>T | CA406303651 | APOE | c.254C>T (p.Thr85Ile) c.332C>T (p.Thr111Ile) | |
19 | g.44908551C>A | CA507947224 | APOE | c.255C>A (p.Thr85=) c.333C>A (p.Thr111=) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.44908551C= | CA2338167837 | APOE | c.255C= (p.Thr85=) c.333C= (p.Thr111=) | |
19 | g.44908551C>G | CA507947223 | APOE | c.255C>G (p.Thr85=) c.333C>G (p.Thr111=) | |
19 | g.44908551C>T | CA507947222 | APOE | c.255C>T (p.Thr85=) c.333C>T (p.Thr111=) | |
19 | g.44908552A= | CA2338167838 | APOE | c.256A= (p.Met86=) c.334A= (p.Met112=) | |
19 | g.44908552A>C | CA406303653 | APOE | c.256A>C (p.Met86Leu) c.334A>C (p.Met112Leu) | gnomAD v4 |
19 | g.44908552A>G | CA406303654 | APOE | c.256A>G (p.Met86Val) c.334A>G (p.Met112Val) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.44908552A>T | CA406303655 | APOE | c.256A>T (p.Met86Leu) c.334A>T (p.Met112Leu) | gnomAD v4 |
19 | g.44908553T>A | CA406303656 | APOE | c.257T>A (p.Met86Lys) c.335T>A (p.Met112Lys) | |
19 | g.44908553T>C | CA406303657 | APOE | c.257T>C (p.Met86Thr) c.335T>C (p.Met112Thr) | |
19 | g.44908553T>G | CA406303658 | APOE | c.257T>G (p.Met86Arg) c.335T>G (p.Met112Arg) | |
19 | g.44908554G>A | CA406303659 | APOE | c.258G>A (p.Met86Ile) c.336G>A (p.Met112Ile) | dbSNP |
19 | g.44908554G>C | CA406303660 | APOE | c.258G>C (p.Met86Ile) c.336G>C (p.Met112Ile) | |
19 | g.44908554G= | CA2338167839 | APOE | c.258G= (p.Met86=) c.336G= (p.Met112=) | |
19 | g.44908554G>T | CA406303661 | APOE | c.258G>T (p.Met86Ile) c.336G>T (p.Met112Ile) | |
19 | g.44908555A>C | CA406303662 | APOE | c.259A>C (p.Lys87Gln) c.337A>C (p.Lys113Gln) | |
19 | g.44908555A>G | CA406303663 | APOE | c.259A>G (p.Lys87Glu) c.337A>G (p.Lys113Glu) | |
19 | g.44908555A>T | CA406303664 | APOE | c.259A>T (p.Lys87Ter) c.337A>T (p.Lys113Ter) | |
19 | g.44908556A>C | CA406303665 | APOE | c.260A>C (p.Lys87Thr) c.338A>C (p.Lys113Thr) | |
19 | g.44908556A>G | CA406303667 | APOE | c.260A>G (p.Lys87Arg) c.338A>G (p.Lys113Arg) | |
19 | g.44908556A>T | CA406303666 | APOE | c.260A>T (p.Lys87Met) c.338A>T (p.Lys113Met) | |
19 | g.44908557G>A | CA507947234 | APOE | c.261G>A (p.Lys87=) c.339G>A (p.Lys113=) | |
19 | g.44908557G>C | CA406303668 | APOE | c.261G>C (p.Lys87Asn) c.339G>C (p.Lys113Asn) | |
19 | g.44908557G>T | CA406303669 | APOE | c.261G>T (p.Lys87Asn) c.339G>T (p.Lys113Asn) | |
19 | g.44908558G>A | CA406303670 | APOE | c.262G>A (p.Glu88Lys) c.340G>A (p.Glu114Lys) | dbSNP gnomAD v4 |
19 | g.44908558G>C | CA406303671 | APOE | c.262G>C (p.Glu88Gln) c.340G>C (p.Glu114Gln) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.44908558G= | CA2338167840 | APOE | c.262G= (p.Glu88=) c.340G= (p.Glu114=) | |
19 | g.44908558G>T | CA406303672 | APOE | c.262G>T (p.Glu88Ter) c.340G>T (p.Glu114Ter) | |
19 | g.44908559A= | CA2338167841 | APOE | c.263A= (p.Glu88=) c.341A= (p.Glu114=) | |
19 | g.44908559A>C | CA406303673 | APOE | c.263A>C (p.Glu88Ala) c.341A>C (p.Glu114Ala) | |
19 | g.44908559A>G | CA406303674 | APOE | c.263A>G (p.Glu88Gly) c.341A>G (p.Glu114Gly) | |
19 | g.44908559A>T | CA406303675 | APOE | c.263A>T (p.Glu88Val) c.341A>T (p.Glu114Val) | dbSNP gnomAD v4 |
19 | g.44908560G>A | CA507947240 | APOE | c.264G>A (p.Glu88=) c.342G>A (p.Glu114=) | gnomAD v4 |
19 | g.44908560G>C | CA406303676 | APOE | c.264G>C (p.Glu88Asp) c.342G>C (p.Glu114Asp) | |
19 | g.44908560G>T | CA406303677 | APOE | c.264G>T (p.Glu88Asp) c.342G>T (p.Glu114Asp) | |
19 | g.44908561T>A | CA406303678 | APOE | c.265T>A (p.Leu89Met) c.343T>A (p.Leu115Met) | |
19 | g.44908561T>C | CA507947241 | APOE | c.265T>C (p.Leu89=) c.343T>C (p.Leu115=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.44908561T>G | CA406303679 | APOE | c.265T>G (p.Leu89Val) c.343T>G (p.Leu115Val) | |
19 | g.44908561T= | CA2338167842 | APOE | c.265T= (p.Leu89=) c.343T= (p.Leu115=) | |
19 | g.44908562T>A | CA406303681 | APOE | c.266T>A (p.Leu89Ter) c.344T>A (p.Leu115Ter) | |
19 | g.44908562T>C | CA9506028 | APOE | c.266T>C (p.Leu89Ser) c.344T>C (p.Leu115Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.44908562T>G | CA406303680 | APOE | c.266T>G (p.Leu89Trp) c.344T>G (p.Leu115Trp) | |
19 | g.44908562T= | CA2338167843 | APOE | c.266T= (p.Leu89=) c.344T= (p.Leu115=) | |
19 | g.44908563G>A | CA507947245 | APOE | c.267G>A (p.Leu89=) c.345G>A (p.Leu115=) | |
19 | g.44908563G>C | CA406303682 | APOE | c.267G>C (p.Leu89Phe) c.345G>C (p.Leu115Phe) | |
19 | g.44908563G>T | CA406303683 | APOE | c.267G>T (p.Leu89Phe) c.345G>T (p.Leu115Phe) | |
19 | g.44908564A= | CA2338167844 | APOE | c.268A= (p.Lys90=) c.346A= (p.Lys116=) | |
19 | g.44908564A>C | CA406303684 | APOE | c.268A>C (p.Lys90Gln) c.346A>C (p.Lys116Gln) | |
19 | g.44908564A>G | CA406303685 | APOE | c.268A>G (p.Lys90Glu) c.346A>G (p.Lys116Glu) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.44908564A>T | CA406303686 | APOE | c.268A>T (p.Lys90Ter) c.346A>T (p.Lys116Ter) | |
19 | g.44908565A>C | CA406303689 | APOE | c.269A>C (p.Lys90Thr) c.347A>C (p.Lys116Thr) | |
19 | g.44908565A>G | CA406303687 | APOE | c.269A>G (p.Lys90Arg) c.347A>G (p.Lys116Arg) | |
19 | g.44908565A>T | CA406303688 | APOE | c.269A>T (p.Lys90Met) c.347A>T (p.Lys116Met) | |
19 | g.44908566G>A | CA507947251 | APOE | c.270G>A (p.Lys90=) c.348G>A (p.Lys116=) | gnomAD v4 |
19 | g.44908566G>C | CA406303690 | APOE | c.270G>C (p.Lys90Asn) c.348G>C (p.Lys116Asn) | |
19 | g.44908566G= | CA2338167845 | APOE | c.270G= (p.Lys90=) c.348G= (p.Lys116=) | |
19 | g.44908566G>T | CA406303691 | APOE | c.270G>T (p.Lys90Asn) c.348G>T (p.Lys116Asn) | dbSNP gnomAD v2 |
19 | g.44908567G>A | CA406303692 | APOE | c.271G>A (p.Ala91Thr) c.349G>A (p.Ala117Thr) | dbSNP gnomAD v2 |
19 | g.44908567G>C | CA406303693 | APOE | c.271G>C (p.Ala91Pro) c.349G>C (p.Ala117Pro) | |
19 | g.44908567G= | CA2338167846 | APOE | c.271G= (p.Ala91=) c.349G= (p.Ala117=) | |
19 | g.44908567G>T | CA406303694 | APOE | c.271G>T (p.Ala91Ser) c.349G>T (p.Ala117Ser) | |
19 | g.44908568C>A | CA406303695 | APOE | c.272C>A (p.Ala91Asp) c.350C>A (p.Ala117Asp) | |
19 | g.44908568C>G | CA406303697 | APOE | c.272C>G (p.Ala91Gly) c.350C>G (p.Ala117Gly) | |
19 | g.44908568C>T | CA406303696 | APOE | c.272C>T (p.Ala91Val) c.350C>T (p.Ala117Val) | |
19 | g.44908569C>A | CA507947258 | APOE | c.273C>A (p.Ala91=) c.351C>A (p.Ala117=) | |
19 | g.44908569C>G | CA507947259 | APOE | c.273C>G (p.Ala91=) c.351C>G (p.Ala117=) | |
19 | g.44908569C>T | CA507947260 | APOE | c.273C>T (p.Ala91=) c.351C>T (p.Ala117=) | |
19 | g.44908570T>A | CA406303698 | APOE | c.274T>A (p.Tyr92Asn) c.352T>A (p.Tyr118Asn) | |
19 | g.44908570T>C | CA406303700 | APOE | c.274T>C (p.Tyr92His) c.352T>C (p.Tyr118His) | gnomAD v4 |
19 | g.44908570T>G | CA406303699 | APOE | c.274T>G (p.Tyr92Asp) c.352T>G (p.Tyr118Asp) | |
19 | g.44908571A= | CA2338167847 | APOE | c.275A= (p.Tyr92=) c.353A= (p.Tyr118=) | |
19 | g.44908571A>C | CA406303701 | APOE | c.275A>C (p.Tyr92Ser) c.353A>C (p.Tyr118Ser) | |
19 | g.44908571A>G | CA406303702 | APOE | c.275A>G (p.Tyr92Cys) c.353A>G (p.Tyr118Cys) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.44908571A>T | CA406303703 | APOE | c.275A>T (p.Tyr92Phe) c.353A>T (p.Tyr118Phe) | |
19 | g.44908572C>A | CA406303704 | APOE | c.276C>A (p.Tyr92Ter) c.354C>A (p.Tyr118Ter) | |
19 | g.44908572C>G | CA406303705 | APOE | c.276C>G (p.Tyr92Ter) c.354C>G (p.Tyr118Ter) | |
19 | g.44908572C>T | CA507947265 | APOE | c.276C>T (p.Tyr92=) c.354C>T (p.Tyr118=) | |
19 | g.44908572_44908574delinsCAA | CA2338167848 | APOE | c.276_278delinsCAA (p.Tyr92=) c.354_356delinsCAA (p.Tyr118=) | |
19 | g.44908573A>C | CA406303706 | APOE | c.277A>C (p.Lys93Gln) c.355A>C (p.Lys119Gln) | |
19 | g.44908573A>G | CA406303707 | APOE | c.277A>G (p.Lys93Glu) c.355A>G (p.Lys119Glu) | |
19 | g.44908573A>T | CA406303708 | APOE | c.277A>T (p.Lys93Ter) c.355A>T (p.Lys119Ter) | |
19 | g.44908574_44908575del | CA633478350 | APOE | c.278_279del (p.Lys93IlefsTer?) c.356_357del (p.Lys119IlefsTer?) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.44908574A= | CA2338167849 | APOE | c.278A= (p.Lys93=) c.356A= (p.Lys119=) | |
19 | g.44908574A>C | CA9506029 | APOE | c.278A>C (p.Lys93Thr) c.356A>C (p.Lys119Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.44908574A>G | CA406303709 | APOE | c.278A>G (p.Lys93Arg) c.356A>G (p.Lys119Arg) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.44908574A>T | CA406303710 | APOE | c.278A>T (p.Lys93Ile) c.356A>T (p.Lys119Ile) |