Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.9763108_9769129del | CA915949116 | GRIN2A | c.2357-40_*41del c.1886-40_*247del n.1950-40_3686del c.1886-40_*41del c.2357-4181_*1806del c.1946-40_4025del n.1996-40_3732del c.1946-40_*247del c.2357-40_*247del c.2198-40_*41del c.2099-40_*41del c.2513-40_*41del c.2513-40_*247del | ClinVar |
16 | g.9768919A>C | CA394709939 | GRIN2A | c.2527T>G (p.Trp843Gly) c.2056T>G (p.Trp686Gly) n.2120T>G c.2357-3971T>G (n.2357-3971T>G) c.2116T>G (p.Trp706Gly) n.2166T>G n.310T>G c.2368T>G (p.Trp790Gly) c.2269T>G (p.Trp757Gly) c.2683T>G (p.Trp895Gly) | |
16 | g.9768919A>G | CA394709940 | GRIN2A | c.2527T>C (p.Trp843Arg) c.2056T>C (p.Trp686Arg) n.2120T>C c.2357-3971T>C (n.2357-3971T>C) c.2116T>C (p.Trp706Arg) n.2166T>C n.310T>C c.2368T>C (p.Trp790Arg) c.2269T>C (p.Trp757Arg) c.2683T>C (p.Trp895Arg) | dbSNP |
16 | g.9768919A>T | CA394709941 | GRIN2A | c.2527T>A (p.Trp843Arg) c.2056T>A (p.Trp686Arg) n.2120T>A c.2357-3971T>A (n.2357-3971T>A) c.2116T>A (p.Trp706Arg) n.2166T>A n.310T>A c.2368T>A (p.Trp790Arg) c.2269T>A (p.Trp757Arg) c.2683T>A (p.Trp895Arg) | dbSNP gnomAD v4 |
16 | g.9768920G>A | CA493693624 | GRIN2A | c.2526C>T (p.Tyr842=) c.2055C>T (p.Tyr685=) n.2119C>T c.2357-3972C>T (n.2357-3972C>T) c.2115C>T (p.Tyr705=) n.2165C>T n.309C>T c.2367C>T (p.Tyr789=) c.2268C>T (p.Tyr756=) c.2682C>T (p.Tyr894=) | ClinVar dbSNP gnomAD v4 |
16 | g.9768920G>C | CA394709942 | GRIN2A | c.2526C>G (p.Tyr842Ter) c.2055C>G (p.Tyr685Ter) n.2119C>G c.2357-3972C>G (n.2357-3972C>G) c.2115C>G (p.Tyr705Ter) n.2165C>G n.309C>G c.2367C>G (p.Tyr789Ter) c.2268C>G (p.Tyr756Ter) c.2682C>G (p.Tyr894Ter) | ClinVar dbSNP |
16 | g.9768920G= | CA2206695640 | GRIN2A | c.2526C= (p.Tyr842=) c.2055C= (p.Tyr685=) n.2119C= c.2357-3972C= (n.2357-3972C=) c.2115C= (p.Tyr705=) n.2165C= n.309C= c.2367C= (p.Tyr789=) c.2268C= (p.Tyr756=) c.2682C= (p.Tyr894=) | |
16 | g.9768920G>T | CA394709943 | GRIN2A | c.2526C>A (p.Tyr842Ter) c.2055C>A (p.Tyr685Ter) n.2119C>A c.2357-3972C>A (n.2357-3972C>A) c.2115C>A (p.Tyr705Ter) n.2165C>A n.309C>A c.2367C>A (p.Tyr789Ter) c.2268C>A (p.Tyr756Ter) c.2682C>A (p.Tyr894Ter) | |
16 | g.9768921T>A | CA394709944 | GRIN2A | c.2525A>T (p.Tyr842Phe) c.2054A>T (p.Tyr685Phe) n.2118A>T c.2357-3973A>T (n.2357-3973A>T) c.2114A>T (p.Tyr705Phe) n.2164A>T n.308A>T c.2366A>T (p.Tyr789Phe) c.2267A>T (p.Tyr756Phe) c.2681A>T (p.Tyr894Phe) | |
16 | g.9768921T>C | CA394709945 | GRIN2A | c.2525A>G (p.Tyr842Cys) c.2054A>G (p.Tyr685Cys) n.2118A>G c.2357-3973A>G (n.2357-3973A>G) c.2114A>G (p.Tyr705Cys) n.2164A>G n.308A>G c.2366A>G (p.Tyr789Cys) c.2267A>G (p.Tyr756Cys) c.2681A>G (p.Tyr894Cys) | |
16 | g.9768921T>G | CA394709946 | GRIN2A | c.2525A>C (p.Tyr842Ser) c.2054A>C (p.Tyr685Ser) n.2118A>C c.2357-3973A>C (n.2357-3973A>C) c.2114A>C (p.Tyr705Ser) n.2164A>C n.308A>C c.2366A>C (p.Tyr789Ser) c.2267A>C (p.Tyr756Ser) c.2681A>C (p.Tyr894Ser) | dbSNP |
16 | g.9768922A>C | CA394709947 | GRIN2A | c.2524T>G (p.Tyr842Asp) c.2053T>G (p.Tyr685Asp) n.2117T>G c.2357-3974T>G (n.2357-3974T>G) c.2113T>G (p.Tyr705Asp) n.2163T>G n.307T>G c.2365T>G (p.Tyr789Asp) c.2266T>G (p.Tyr756Asp) c.2680T>G (p.Tyr894Asp) | |
16 | g.9768922A>G | CA394709948 | GRIN2A | c.2524T>C (p.Tyr842His) c.2053T>C (p.Tyr685His) n.2117T>C c.2357-3974T>C (n.2357-3974T>C) c.2113T>C (p.Tyr705His) n.2163T>C n.307T>C c.2365T>C (p.Tyr789His) c.2266T>C (p.Tyr756His) c.2680T>C (p.Tyr894His) | |
16 | g.9768922A>T | CA394709949 | GRIN2A | c.2524T>A (p.Tyr842Asn) c.2053T>A (p.Tyr685Asn) n.2117T>A c.2357-3974T>A (n.2357-3974T>A) c.2113T>A (p.Tyr705Asn) n.2163T>A n.307T>A c.2365T>A (p.Tyr789Asn) c.2266T>A (p.Tyr756Asn) c.2680T>A (p.Tyr894Asn) | dbSNP |
16 | g.9768923G>A | CA277546464 | GRIN2A | c.2523C>T (p.Phe841=) c.2052C>T (p.Phe684=) n.2116C>T c.2357-3975C>T (n.2357-3975C>T) c.2112C>T (p.Phe704=) n.2162C>T n.306C>T c.2364C>T (p.Phe788=) c.2265C>T (p.Phe755=) c.2679C>T (p.Phe893=) | dbSNP gnomAD v4 |
16 | g.9768923G>C | CA394709950 | GRIN2A | c.2523C>G (p.Phe841Leu) c.2052C>G (p.Phe684Leu) n.2116C>G c.2357-3975C>G (n.2357-3975C>G) c.2112C>G (p.Phe704Leu) n.2162C>G n.306C>G c.2364C>G (p.Phe788Leu) c.2265C>G (p.Phe755Leu) c.2679C>G (p.Phe893Leu) | dbSNP |
16 | g.9768923G= | CA2206695641 | GRIN2A | c.2523C= (p.Phe841=) c.2052C= (p.Phe684=) n.2116C= c.2357-3975C= (n.2357-3975C=) c.2112C= (p.Phe704=) n.2162C= n.306C= c.2364C= (p.Phe788=) c.2265C= (p.Phe755=) c.2679C= (p.Phe893=) | |
16 | g.9768923G>T | CA394709951 | GRIN2A | c.2523C>A (p.Phe841Leu) c.2052C>A (p.Phe684Leu) n.2116C>A c.2357-3975C>A (n.2357-3975C>A) c.2112C>A (p.Phe704Leu) n.2162C>A n.306C>A c.2364C>A (p.Phe788Leu) c.2265C>A (p.Phe755Leu) c.2679C>A (p.Phe893Leu) | |
16 | g.9768924A>C | CA394709952 | GRIN2A | c.2522T>G (p.Phe841Cys) c.2051T>G (p.Phe684Cys) n.2115T>G c.2357-3976T>G (n.2357-3976T>G) c.2111T>G (p.Phe704Cys) n.2161T>G n.305T>G c.2363T>G (p.Phe788Cys) c.2264T>G (p.Phe755Cys) c.2678T>G (p.Phe893Cys) | |
16 | g.9768924A>G | CA394709953 | GRIN2A | c.2522T>C (p.Phe841Ser) c.2051T>C (p.Phe684Ser) n.2115T>C c.2357-3976T>C (n.2357-3976T>C) c.2111T>C (p.Phe704Ser) n.2161T>C n.305T>C c.2363T>C (p.Phe788Ser) c.2264T>C (p.Phe755Ser) c.2678T>C (p.Phe893Ser) | |
16 | g.9768924A>T | CA394709954 | GRIN2A | c.2522T>A (p.Phe841Tyr) c.2051T>A (p.Phe684Tyr) n.2115T>A c.2357-3976T>A (n.2357-3976T>A) c.2111T>A (p.Phe704Tyr) n.2161T>A n.305T>A c.2363T>A (p.Phe788Tyr) c.2264T>A (p.Phe755Tyr) c.2678T>A (p.Phe893Tyr) | |
16 | g.9768925A>C | CA394709957 | GRIN2A | c.2521T>G (p.Phe841Val) c.2050T>G (p.Phe684Val) n.2114T>G c.2357-3977T>G (n.2357-3977T>G) c.2110T>G (p.Phe704Val) n.2160T>G n.304T>G c.2362T>G (p.Phe788Val) c.2263T>G (p.Phe755Val) c.2677T>G (p.Phe893Val) | |
16 | g.9768925A>G | CA394709956 | GRIN2A | c.2521T>C (p.Phe841Leu) c.2050T>C (p.Phe684Leu) n.2114T>C c.2357-3977T>C (n.2357-3977T>C) c.2110T>C (p.Phe704Leu) n.2160T>C n.304T>C c.2362T>C (p.Phe788Leu) c.2263T>C (p.Phe755Leu) c.2677T>C (p.Phe893Leu) | COSMIC |
16 | g.9768925A>T | CA394709955 | GRIN2A | c.2521T>A (p.Phe841Ile) c.2050T>A (p.Phe684Ile) n.2114T>A c.2357-3977T>A (n.2357-3977T>A) c.2110T>A (p.Phe704Ile) n.2160T>A n.304T>A c.2362T>A (p.Phe788Ile) c.2263T>A (p.Phe755Ile) c.2677T>A (p.Phe893Ile) | dbSNP |
16 | g.9768926G>A | CA493693629 | GRIN2A | c.2520C>T (p.Leu840=) c.2049C>T (p.Leu683=) n.2113C>T c.2357-3978C>T (n.2357-3978C>T) c.2109C>T (p.Leu703=) n.2159C>T n.303C>T c.2361C>T (p.Leu787=) c.2262C>T (p.Leu754=) c.2676C>T (p.Leu892=) | dbSNP gnomAD v4 COSMIC |
16 | g.9768926G>C | CA493693630 | GRIN2A | c.2520C>G (p.Leu840=) c.2049C>G (p.Leu683=) n.2113C>G c.2357-3978C>G (n.2357-3978C>G) c.2109C>G (p.Leu703=) n.2159C>G n.303C>G c.2361C>G (p.Leu787=) c.2262C>G (p.Leu754=) c.2676C>G (p.Leu892=) | dbSNP |
16 | g.9768926G= | CA2206695642 | GRIN2A | c.2520C= (p.Leu840=) c.2049C= (p.Leu683=) n.2113C= c.2357-3978C= (n.2357-3978C=) c.2109C= (p.Leu703=) n.2159C= n.303C= c.2361C= (p.Leu787=) c.2262C= (p.Leu754=) c.2676C= (p.Leu892=) | |
16 | g.9768926G>T | CA7896494 | GRIN2A | c.2520C>A (p.Leu840=) c.2049C>A (p.Leu683=) n.2113C>A c.2357-3978C>A (n.2357-3978C>A) c.2109C>A (p.Leu703=) n.2159C>A n.303C>A c.2361C>A (p.Leu787=) c.2262C>A (p.Leu754=) c.2676C>A (p.Leu892=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.9768927A>C | CA394709958 | GRIN2A | c.2519T>G (p.Leu840Arg) c.2048T>G (p.Leu683Arg) n.2112T>G c.2357-3979T>G (n.2357-3979T>G) c.2108T>G (p.Leu703Arg) n.2158T>G n.302T>G c.2360T>G (p.Leu787Arg) c.2261T>G (p.Leu754Arg) c.2675T>G (p.Leu892Arg) | |
16 | g.9768927A>G | CA394709959 | GRIN2A | c.2519T>C (p.Leu840Pro) c.2048T>C (p.Leu683Pro) n.2112T>C c.2357-3979T>C (n.2357-3979T>C) c.2108T>C (p.Leu703Pro) n.2158T>C n.302T>C c.2360T>C (p.Leu787Pro) c.2261T>C (p.Leu754Pro) c.2675T>C (p.Leu892Pro) | dbSNP |
16 | g.9768927A>T | CA394709960 | GRIN2A | c.2519T>A (p.Leu840His) c.2048T>A (p.Leu683His) n.2112T>A c.2357-3979T>A (n.2357-3979T>A) c.2108T>A (p.Leu703His) n.2158T>A n.302T>A c.2360T>A (p.Leu787His) c.2261T>A (p.Leu754His) c.2675T>A (p.Leu892His) | ClinVar dbSNP |
16 | g.9768928G>A | CA7896495 | GRIN2A | c.2518C>T (p.Leu840Phe) c.2047C>T (p.Leu683Phe) n.2111C>T c.2357-3980C>T (n.2357-3980C>T) c.2107C>T (p.Leu703Phe) n.2157C>T n.301C>T c.2359C>T (p.Leu787Phe) c.2260C>T (p.Leu754Phe) c.2674C>T (p.Leu892Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.9768928G>C | CA394709961 | GRIN2A | c.2518C>G (p.Leu840Val) c.2047C>G (p.Leu683Val) n.2111C>G c.2357-3980C>G (n.2357-3980C>G) c.2107C>G (p.Leu703Val) n.2157C>G n.301C>G c.2359C>G (p.Leu787Val) c.2260C>G (p.Leu754Val) c.2674C>G (p.Leu892Val) | |
16 | g.9768928G= | CA2206695643 | GRIN2A | c.2518C= (p.Leu840=) c.2047C= (p.Leu683=) n.2111C= c.2357-3980C= (n.2357-3980C=) c.2107C= (p.Leu703=) n.2157C= n.301C= c.2359C= (p.Leu787=) c.2260C= (p.Leu754=) c.2674C= (p.Leu892=) | |
16 | g.9768928G>T | CA394709962 | GRIN2A | c.2518C>A (p.Leu840Ile) c.2047C>A (p.Leu683Ile) n.2111C>A c.2357-3980C>A (n.2357-3980C>A) c.2107C>A (p.Leu703Ile) n.2157C>A n.301C>A c.2359C>A (p.Leu787Ile) c.2260C>A (p.Leu754Ile) c.2674C>A (p.Leu892Ile) | dbSNP |
16 | g.9768929G>A | CA493693631 | GRIN2A | c.2517C>T (p.His839=) c.2046C>T (p.His682=) n.2110C>T c.2357-3981C>T (n.2357-3981C>T) c.2106C>T (p.His702=) n.2156C>T n.300C>T c.2358C>T (p.His786=) c.2259C>T (p.His753=) c.2673C>T (p.His891=) | ClinVar dbSNP gnomAD v4 |
16 | g.9768929G>C | CA394709963 | GRIN2A | c.2517C>G (p.His839Gln) c.2046C>G (p.His682Gln) n.2110C>G c.2357-3981C>G (n.2357-3981C>G) c.2106C>G (p.His702Gln) n.2156C>G n.300C>G c.2358C>G (p.His786Gln) c.2259C>G (p.His753Gln) c.2673C>G (p.His891Gln) | dbSNP |
16 | g.9768929G= | CA2206695644 | GRIN2A | c.2517C= (p.His839=) c.2046C= (p.His682=) n.2110C= c.2357-3981C= (n.2357-3981C=) c.2106C= (p.His702=) n.2156C= n.300C= c.2358C= (p.His786=) c.2259C= (p.His753=) c.2673C= (p.His891=) | |
16 | g.9768929G>T | CA7896496 | GRIN2A | c.2517C>A (p.His839Gln) c.2046C>A (p.His682Gln) n.2110C>A c.2357-3981C>A (n.2357-3981C>A) c.2106C>A (p.His702Gln) n.2156C>A n.300C>A c.2358C>A (p.His786Gln) c.2259C>A (p.His753Gln) c.2673C>A (p.His891Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.9768930T>A | CA394709964 | GRIN2A | c.2516A>T (p.His839Leu) c.2045A>T (p.His682Leu) n.2109A>T c.2357-3982A>T (n.2357-3982A>T) c.2105A>T (p.His702Leu) n.2155A>T n.299A>T c.2357A>T (p.His786Leu) c.2258A>T (p.His753Leu) c.2672A>T (p.His891Leu) | ClinVar dbSNP |
16 | g.9768930T>C | CA394709965 | GRIN2A | c.2516A>G (p.His839Arg) c.2045A>G (p.His682Arg) n.2109A>G c.2357-3982A>G (n.2357-3982A>G) c.2105A>G (p.His702Arg) n.2155A>G n.299A>G c.2357A>G (p.His786Arg) c.2258A>G (p.His753Arg) c.2672A>G (p.His891Arg) | |
16 | g.9768930T>G | CA394709966 | GRIN2A | c.2516A>C (p.His839Pro) c.2045A>C (p.His682Pro) n.2109A>C c.2357-3982A>C (n.2357-3982A>C) c.2105A>C (p.His702Pro) n.2155A>C n.299A>C c.2357A>C (p.His786Pro) c.2258A>C (p.His753Pro) c.2672A>C (p.His891Pro) | dbSNP |
16 | g.9768931G>A | CA7896497 | GRIN2A | c.2515C>T (p.His839Tyr) c.2044C>T (p.His682Tyr) n.2108C>T c.2357-3983C>T (n.2357-3983C>T) c.2104C>T (p.His702Tyr) n.2154C>T n.298C>T c.2356C>T (p.His786Tyr) c.2257C>T (p.His753Tyr) c.2671C>T (p.His891Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.9768931G>C | CA394709968 | GRIN2A | c.2515C>G (p.His839Asp) c.2044C>G (p.His682Asp) n.2108C>G c.2357-3983C>G (n.2357-3983C>G) c.2104C>G (p.His702Asp) n.2154C>G n.298C>G c.2356C>G (p.His786Asp) c.2257C>G (p.His753Asp) c.2671C>G (p.His891Asp) | dbSNP |
16 | g.9768931G= | CA2206695645 | GRIN2A | c.2515C= (p.His839=) c.2044C= (p.His682=) n.2108C= c.2357-3983C= (n.2357-3983C=) c.2104C= (p.His702=) n.2154C= n.298C= c.2356C= (p.His786=) c.2257C= (p.His753=) c.2671C= (p.His891=) | |
16 | g.9768931G>T | CA394709967 | GRIN2A | c.2515C>A (p.His839Asn) c.2044C>A (p.His682Asn) n.2108C>A c.2357-3983C>A (n.2357-3983C>A) c.2104C>A (p.His702Asn) n.2154C>A n.298C>A c.2356C>A (p.His786Asn) c.2257C>A (p.His753Asn) c.2671C>A (p.His891Asn) | |
16 | g.9768932C>A | CA394709969 | GRIN2A | c.2514G>T (p.Glu838Asp) c.2043G>T (p.Glu681Asp) n.2107G>T c.2357-3984G>T (n.2357-3984G>T) c.2103G>T (p.Glu701Asp) n.2153G>T n.297G>T c.2355G>T (p.Glu785Asp) c.2256G>T (p.Glu752Asp) c.2670G>T (p.Glu890Asp) | dbSNP |
16 | g.9768932C>G | CA394709970 | GRIN2A | c.2514G>C (p.Glu838Asp) c.2043G>C (p.Glu681Asp) n.2107G>C c.2357-3984G>C (n.2357-3984G>C) c.2103G>C (p.Glu701Asp) n.2153G>C n.297G>C c.2355G>C (p.Glu785Asp) c.2256G>C (p.Glu752Asp) c.2670G>C (p.Glu890Asp) | dbSNP |
16 | g.9768932C>T | CA493693634 | GRIN2A | c.2514G>A (p.Glu838=) c.2043G>A (p.Glu681=) n.2107G>A c.2357-3984G>A (n.2357-3984G>A) c.2103G>A (p.Glu701=) n.2153G>A n.297G>A c.2355G>A (p.Glu785=) c.2256G>A (p.Glu752=) c.2670G>A (p.Glu890=) | dbSNP |
16 | g.9768933T>A | CA394709971 | GRIN2A | c.2513A>T (p.Glu838Val) c.2042A>T (p.Glu681Val) n.2106A>T c.2357-3985A>T (n.2357-3985A>T) c.2102A>T (p.Glu701Val) n.2152A>T n.296A>T c.2354A>T (p.Glu785Val) c.2255A>T (p.Glu752Val) c.2669A>T (p.Glu890Val) | |
16 | g.9768933T>C | CA394709973 | GRIN2A | c.2513A>G (p.Glu838Gly) c.2042A>G (p.Glu681Gly) n.2106A>G c.2357-3985A>G (n.2357-3985A>G) c.2102A>G (p.Glu701Gly) n.2152A>G n.296A>G c.2354A>G (p.Glu785Gly) c.2255A>G (p.Glu752Gly) c.2669A>G (p.Glu890Gly) | |
16 | g.9768933T>G | CA394709972 | GRIN2A | c.2513A>C (p.Glu838Ala) c.2042A>C (p.Glu681Ala) n.2106A>C c.2357-3985A>C (n.2357-3985A>C) c.2102A>C (p.Glu701Ala) n.2152A>C n.296A>C c.2354A>C (p.Glu785Ala) c.2255A>C (p.Glu752Ala) c.2669A>C (p.Glu890Ala) | |
16 | g.9768934C>A | CA394709974 | GRIN2A | c.2512G>T (p.Glu838Ter) c.2041G>T (p.Glu681Ter) n.2105G>T c.2357-3986G>T (n.2357-3986G>T) c.2101G>T (p.Glu701Ter) n.2151G>T n.295G>T c.2353G>T (p.Glu785Ter) c.2254G>T (p.Glu752Ter) c.2668G>T (p.Glu890Ter) | dbSNP |
16 | g.9768934C= | CA2206695646 | GRIN2A | c.2512G= (p.Glu838=) c.2041G= (p.Glu681=) n.2105G= c.2357-3986G= (n.2357-3986G=) c.2101G= (p.Glu701=) n.2151G= n.295G= c.2353G= (p.Glu785=) c.2254G= (p.Glu752=) c.2668G= (p.Glu890=) | |
16 | g.9768934C>G | CA394709975 | GRIN2A | c.2512G>C (p.Glu838Gln) c.2041G>C (p.Glu681Gln) n.2105G>C c.2357-3986G>C (n.2357-3986G>C) c.2101G>C (p.Glu701Gln) n.2151G>C n.295G>C c.2353G>C (p.Glu785Gln) c.2254G>C (p.Glu752Gln) c.2668G>C (p.Glu890Gln) | dbSNP |
16 | g.9768934C>T | CA394709976 | GRIN2A | c.2512G>A (p.Glu838Lys) c.2041G>A (p.Glu681Lys) n.2105G>A c.2357-3986G>A (n.2357-3986G>A) c.2101G>A (p.Glu701Lys) n.2151G>A n.295G>A c.2353G>A (p.Glu785Lys) c.2254G>A (p.Glu752Lys) c.2668G>A (p.Glu890Lys) | COSMIC |
16 | g.9768935C>A | CA394709977 | GRIN2A | c.2511G>T (p.Trp837Cys) c.2040G>T (p.Trp680Cys) n.2104G>T c.2357-3987G>T (n.2357-3987G>T) c.2100G>T (p.Trp700Cys) n.2150G>T n.294G>T c.2352G>T (p.Trp784Cys) c.2253G>T (p.Trp751Cys) c.2667G>T (p.Trp889Cys) | dbSNP |
16 | g.9768935C= | CA2206695647 | GRIN2A | c.2511G= (p.Trp837=) c.2040G= (p.Trp680=) n.2104G= c.2357-3987G= (n.2357-3987G=) c.2100G= (p.Trp700=) n.2150G= n.294G= c.2352G= (p.Trp784=) c.2253G= (p.Trp751=) c.2667G= (p.Trp889=) | |
16 | g.9768935C>G | CA394709978 | GRIN2A | c.2511G>C (p.Trp837Cys) c.2040G>C (p.Trp680Cys) n.2104G>C c.2357-3987G>C (n.2357-3987G>C) c.2100G>C (p.Trp700Cys) n.2150G>C n.294G>C c.2352G>C (p.Trp784Cys) c.2253G>C (p.Trp751Cys) c.2667G>C (p.Trp889Cys) | dbSNP |
16 | g.9768935C>T | CA394709979 | GRIN2A | c.2511G>A (p.Trp837Ter) c.2040G>A (p.Trp680Ter) n.2104G>A c.2357-3987G>A (n.2357-3987G>A) c.2100G>A (p.Trp700Ter) n.2150G>A n.294G>A c.2352G>A (p.Trp784Ter) c.2253G>A (p.Trp751Ter) c.2667G>A (p.Trp889Ter) | ClinVar dbSNP |
16 | g.9768936C>A | CA394709980 | GRIN2A | c.2510G>T (p.Trp837Leu) c.2039G>T (p.Trp680Leu) n.2103G>T c.2357-3988G>T (n.2357-3988G>T) c.2099G>T (p.Trp700Leu) n.2149G>T n.293G>T c.2351G>T (p.Trp784Leu) c.2252G>T (p.Trp751Leu) c.2666G>T (p.Trp889Leu) | |
16 | g.9768936C>G | CA394709981 | GRIN2A | c.2510G>C (p.Trp837Ser) c.2039G>C (p.Trp680Ser) n.2103G>C c.2357-3988G>C (n.2357-3988G>C) c.2099G>C (p.Trp700Ser) n.2149G>C n.293G>C c.2351G>C (p.Trp784Ser) c.2252G>C (p.Trp751Ser) c.2666G>C (p.Trp889Ser) | dbSNP |
16 | g.9768936C>T | CA394709982 | GRIN2A | c.2510G>A (p.Trp837Ter) c.2039G>A (p.Trp680Ter) n.2103G>A c.2357-3988G>A (n.2357-3988G>A) c.2099G>A (p.Trp700Ter) n.2149G>A n.293G>A c.2351G>A (p.Trp784Ter) c.2252G>A (p.Trp751Ter) c.2666G>A (p.Trp889Ter) | dbSNP |
16 | g.9768937A>C | CA394709983 | GRIN2A | c.2509T>G (p.Trp837Gly) c.2038T>G (p.Trp680Gly) n.2102T>G c.2357-3989T>G (n.2357-3989T>G) c.2098T>G (p.Trp700Gly) n.2148T>G n.292T>G c.2350T>G (p.Trp784Gly) c.2251T>G (p.Trp751Gly) c.2665T>G (p.Trp889Gly) | |
16 | g.9768937A>G | CA394709984 | GRIN2A | c.2509T>C (p.Trp837Arg) c.2038T>C (p.Trp680Arg) n.2102T>C c.2357-3989T>C (n.2357-3989T>C) c.2098T>C (p.Trp700Arg) n.2148T>C n.292T>C c.2350T>C (p.Trp784Arg) c.2251T>C (p.Trp751Arg) c.2665T>C (p.Trp889Arg) | dbSNP |
16 | g.9768937A>T | CA394709985 | GRIN2A | c.2509T>A (p.Trp837Arg) c.2038T>A (p.Trp680Arg) n.2102T>A c.2357-3989T>A (n.2357-3989T>A) c.2098T>A (p.Trp700Arg) n.2148T>A n.292T>A c.2350T>A (p.Trp784Arg) c.2251T>A (p.Trp751Arg) c.2665T>A (p.Trp889Arg) | |
16 | g.9768938G>A | CA493693635 | GRIN2A | c.2508C>T (p.Ile836=) c.2037C>T (p.Ile679=) n.2101C>T c.2357-3990C>T (n.2357-3990C>T) c.2097C>T (p.Ile699=) n.2147C>T n.291C>T c.2349C>T (p.Ile783=) c.2250C>T (p.Ile750=) c.2664C>T (p.Ile888=) | dbSNP |
16 | g.9768938G>C | CA394709986 | GRIN2A | c.2508C>G (p.Ile836Met) c.2037C>G (p.Ile679Met) n.2101C>G c.2357-3990C>G (n.2357-3990C>G) c.2097C>G (p.Ile699Met) n.2147C>G n.291C>G c.2349C>G (p.Ile783Met) c.2250C>G (p.Ile750Met) c.2664C>G (p.Ile888Met) | dbSNP |
16 | g.9768938G>T | CA493693636 | GRIN2A | c.2508C>A (p.Ile836=) c.2037C>A (p.Ile679=) n.2101C>A c.2357-3990C>A (n.2357-3990C>A) c.2097C>A (p.Ile699=) n.2147C>A n.291C>A c.2349C>A (p.Ile783=) c.2250C>A (p.Ile750=) c.2664C>A (p.Ile888=) | |
16 | g.9768939A= | CA2206695648 | GRIN2A | c.2507T= (p.Ile836=) c.2036T= (p.Ile679=) n.2100T= c.2357-3991T= (n.2357-3991T=) c.2096T= (p.Ile699=) n.2146T= n.290T= c.2348T= (p.Ile783=) c.2249T= (p.Ile750=) c.2663T= (p.Ile888=) | |
16 | g.9768939A>C | CA394709987 | GRIN2A | c.2507T>G (p.Ile836Ser) c.2036T>G (p.Ile679Ser) n.2100T>G c.2357-3991T>G (n.2357-3991T>G) c.2096T>G (p.Ile699Ser) n.2146T>G n.290T>G c.2348T>G (p.Ile783Ser) c.2249T>G (p.Ile750Ser) c.2663T>G (p.Ile888Ser) | |
16 | g.9768939A>G | CA7896498 | GRIN2A | c.2507T>C (p.Ile836Thr) c.2036T>C (p.Ile679Thr) n.2100T>C c.2357-3991T>C (n.2357-3991T>C) c.2096T>C (p.Ile699Thr) n.2146T>C n.290T>C c.2348T>C (p.Ile783Thr) c.2249T>C (p.Ile750Thr) c.2663T>C (p.Ile888Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.9768939A>T | CA394709988 | GRIN2A | c.2507T>A (p.Ile836Asn) c.2036T>A (p.Ile679Asn) n.2100T>A c.2357-3991T>A (n.2357-3991T>A) c.2096T>A (p.Ile699Asn) n.2146T>A n.290T>A c.2348T>A (p.Ile783Asn) c.2249T>A (p.Ile750Asn) c.2663T>A (p.Ile888Asn) | |
16 | g.9768940T>A | CA394709989 | GRIN2A | c.2506A>T (p.Ile836Phe) c.2035A>T (p.Ile679Phe) n.2099A>T c.2357-3992A>T (n.2357-3992A>T) c.2095A>T (p.Ile699Phe) n.2145A>T n.289A>T c.2347A>T (p.Ile783Phe) c.2248A>T (p.Ile750Phe) c.2662A>T (p.Ile888Phe) | dbSNP |
16 | g.9768940T>C | CA394709990 | GRIN2A | c.2506A>G (p.Ile836Val) c.2035A>G (p.Ile679Val) n.2099A>G c.2357-3992A>G (n.2357-3992A>G) c.2095A>G (p.Ile699Val) n.2145A>G n.289A>G c.2347A>G (p.Ile783Val) c.2248A>G (p.Ile750Val) c.2662A>G (p.Ile888Val) | dbSNP |
16 | g.9768940T>G | CA277546473 | GRIN2A | c.2506A>C (p.Ile836Leu) c.2035A>C (p.Ile679Leu) n.2099A>C c.2357-3992A>C (n.2357-3992A>C) c.2095A>C (p.Ile699Leu) n.2145A>C n.289A>C c.2347A>C (p.Ile783Leu) c.2248A>C (p.Ile750Leu) c.2662A>C (p.Ile888Leu) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.9768940T= | CA2206695649 | GRIN2A | c.2506A= (p.Ile836=) c.2035A= (p.Ile679=) n.2099A= c.2357-3992A= (n.2357-3992A=) c.2095A= (p.Ile699=) n.2145A= n.289A= c.2347A= (p.Ile783=) c.2248A= (p.Ile750=) c.2662A= (p.Ile888=) | |
16 | g.9768941G>A | CA7896499 | GRIN2A | c.2505C>T (p.Phe835=) c.2034C>T (p.Phe678=) n.2098C>T c.2357-3993C>T (n.2357-3993C>T) c.2094C>T (p.Phe698=) n.2144C>T n.288C>T c.2346C>T (p.Phe782=) c.2247C>T (p.Phe749=) c.2661C>T (p.Phe887=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.9768941G>C | CA394709991 | GRIN2A | c.2505C>G (p.Phe835Leu) c.2034C>G (p.Phe678Leu) n.2098C>G c.2357-3993C>G (n.2357-3993C>G) c.2094C>G (p.Phe698Leu) n.2144C>G n.288C>G c.2346C>G (p.Phe782Leu) c.2247C>G (p.Phe749Leu) c.2661C>G (p.Phe887Leu) | |
16 | g.9768941G= | CA2206695650 | GRIN2A | c.2505C= (p.Phe835=) c.2034C= (p.Phe678=) n.2098C= c.2357-3993C= (n.2357-3993C=) c.2094C= (p.Phe698=) n.2144C= n.288C= c.2346C= (p.Phe782=) c.2247C= (p.Phe749=) c.2661C= (p.Phe887=) | |
16 | g.9768941G>T | CA394709992 | GRIN2A | c.2505C>A (p.Phe835Leu) c.2034C>A (p.Phe678Leu) n.2098C>A c.2357-3993C>A (n.2357-3993C>A) c.2094C>A (p.Phe698Leu) n.2144C>A n.288C>A c.2346C>A (p.Phe782Leu) c.2247C>A (p.Phe749Leu) c.2661C>A (p.Phe887Leu) | |
16 | g.9768942A>C | CA394709993 | GRIN2A | c.2504T>G (p.Phe835Cys) c.2033T>G (p.Phe678Cys) n.2097T>G c.2357-3994T>G (n.2357-3994T>G) c.2093T>G (p.Phe698Cys) n.2143T>G n.287T>G c.2345T>G (p.Phe782Cys) c.2246T>G (p.Phe749Cys) c.2660T>G (p.Phe887Cys) | COSMIC |
16 | g.9768942A>G | CA394709994 | GRIN2A | c.2504T>C (p.Phe835Ser) c.2033T>C (p.Phe678Ser) n.2097T>C c.2357-3994T>C (n.2357-3994T>C) c.2093T>C (p.Phe698Ser) n.2143T>C n.287T>C c.2345T>C (p.Phe782Ser) c.2246T>C (p.Phe749Ser) c.2660T>C (p.Phe887Ser) | dbSNP |
16 | g.9768942A>T | CA394709995 | GRIN2A | c.2504T>A (p.Phe835Tyr) c.2033T>A (p.Phe678Tyr) n.2097T>A c.2357-3994T>A (n.2357-3994T>A) c.2093T>A (p.Phe698Tyr) n.2143T>A n.287T>A c.2345T>A (p.Phe782Tyr) c.2246T>A (p.Phe749Tyr) c.2660T>A (p.Phe887Tyr) | dbSNP |
16 | g.9768943A>C | CA394709998 | GRIN2A | c.2503T>G (p.Phe835Val) c.2032T>G (p.Phe678Val) n.2096T>G c.2357-3995T>G (n.2357-3995T>G) c.2092T>G (p.Phe698Val) n.2142T>G n.286T>G c.2344T>G (p.Phe782Val) c.2245T>G (p.Phe749Val) c.2659T>G (p.Phe887Val) | |
16 | g.9768943A>G | CA394709997 | GRIN2A | c.2503T>C (p.Phe835Leu) c.2032T>C (p.Phe678Leu) n.2096T>C c.2357-3995T>C (n.2357-3995T>C) c.2092T>C (p.Phe698Leu) n.2142T>C n.286T>C c.2344T>C (p.Phe782Leu) c.2245T>C (p.Phe749Leu) c.2659T>C (p.Phe887Leu) | ClinVar dbSNP |
16 | g.9768943A>T | CA394709996 | GRIN2A | c.2503T>A (p.Phe835Ile) c.2032T>A (p.Phe678Ile) n.2096T>A c.2357-3995T>A (n.2357-3995T>A) c.2092T>A (p.Phe698Ile) n.2142T>A n.286T>A c.2344T>A (p.Phe782Ile) c.2245T>A (p.Phe749Ile) c.2659T>A (p.Phe887Ile) | dbSNP |
16 | g.9768944G>A | CA493693639 | GRIN2A | c.2502C>T (p.Thr834=) c.2031C>T (p.Thr677=) n.2095C>T c.2357-3996C>T (n.2357-3996C>T) c.2091C>T (p.Thr697=) n.2141C>T n.285C>T c.2343C>T (p.Thr781=) c.2244C>T (p.Thr748=) c.2658C>T (p.Thr886=) | |
16 | g.9768944G>C | CA493693642 | GRIN2A | c.2502C>G (p.Thr834=) c.2031C>G (p.Thr677=) n.2095C>G c.2357-3996C>G (n.2357-3996C>G) c.2091C>G (p.Thr697=) n.2141C>G n.285C>G c.2343C>G (p.Thr781=) c.2244C>G (p.Thr748=) c.2658C>G (p.Thr886=) | dbSNP gnomAD v4 |
16 | g.9768944G= | CA2206695651 | GRIN2A | c.2502C= (p.Thr834=) c.2031C= (p.Thr677=) n.2095C= c.2357-3996C= (n.2357-3996C=) c.2091C= (p.Thr697=) n.2141C= n.285C= c.2343C= (p.Thr781=) c.2244C= (p.Thr748=) c.2658C= (p.Thr886=) | |
16 | g.9768944G>T | CA493693640 | GRIN2A | c.2502C>A (p.Thr834=) c.2031C>A (p.Thr677=) n.2095C>A c.2357-3996C>A (n.2357-3996C>A) c.2091C>A (p.Thr697=) n.2141C>A n.285C>A c.2343C>A (p.Thr781=) c.2244C>A (p.Thr748=) c.2658C>A (p.Thr886=) | |
16 | g.9768945G>A | CA394709999 | GRIN2A | c.2501C>T (p.Thr834Ile) c.2030C>T (p.Thr677Ile) n.2094C>T c.2357-3997C>T (n.2357-3997C>T) c.2090C>T (p.Thr697Ile) n.2140C>T n.284C>T c.2342C>T (p.Thr781Ile) c.2243C>T (p.Thr748Ile) c.2657C>T (p.Thr886Ile) | dbSNP gnomAD v4 |
16 | g.9768945G>C | CA394710000 | GRIN2A | c.2501C>G (p.Thr834Ser) c.2030C>G (p.Thr677Ser) n.2094C>G c.2357-3997C>G (n.2357-3997C>G) c.2090C>G (p.Thr697Ser) n.2140C>G n.284C>G c.2342C>G (p.Thr781Ser) c.2243C>G (p.Thr748Ser) c.2657C>G (p.Thr886Ser) | |
16 | g.9768945G= | CA2206695652 | GRIN2A | c.2501C= (p.Thr834=) c.2030C= (p.Thr677=) n.2094C= c.2357-3997C= (n.2357-3997C=) c.2090C= (p.Thr697=) n.2140C= n.284C= c.2342C= (p.Thr781=) c.2243C= (p.Thr748=) c.2657C= (p.Thr886=) | |
16 | g.9768945G>T | CA394710001 | GRIN2A | c.2501C>A (p.Thr834Asn) c.2030C>A (p.Thr677Asn) n.2094C>A c.2357-3997C>A (n.2357-3997C>A) c.2090C>A (p.Thr697Asn) n.2140C>A n.284C>A c.2342C>A (p.Thr781Asn) c.2243C>A (p.Thr748Asn) c.2657C>A (p.Thr886Asn) | |
16 | g.9768946T>A | CA394710002 | GRIN2A | c.2500A>T (p.Thr834Ser) c.2029A>T (p.Thr677Ser) n.2093A>T c.2357-3998A>T (n.2357-3998A>T) c.2089A>T (p.Thr697Ser) n.2139A>T n.283A>T c.2341A>T (p.Thr781Ser) c.2242A>T (p.Thr748Ser) c.2656A>T (p.Thr886Ser) | dbSNP |
16 | g.9768946T>C | CA394710003 | GRIN2A | c.2500A>G (p.Thr834Ala) c.2029A>G (p.Thr677Ala) n.2093A>G c.2357-3998A>G (n.2357-3998A>G) c.2089A>G (p.Thr697Ala) n.2139A>G n.283A>G c.2341A>G (p.Thr781Ala) c.2242A>G (p.Thr748Ala) c.2656A>G (p.Thr886Ala) | |
16 | g.9768946T>G | CA394710004 | GRIN2A | c.2500A>C (p.Thr834Pro) c.2029A>C (p.Thr677Pro) n.2093A>C c.2357-3998A>C (n.2357-3998A>C) c.2089A>C (p.Thr697Pro) n.2139A>C n.283A>C c.2341A>C (p.Thr781Pro) c.2242A>C (p.Thr748Pro) c.2656A>C (p.Thr886Pro) | dbSNP |
16 | g.9768947G>A | CA493693643 | GRIN2A | c.2499C>T (p.Ile833=) c.2028C>T (p.Ile676=) n.2092C>T c.2357-3999C>T (n.2357-3999C>T) c.2088C>T (p.Ile696=) n.2138C>T n.282C>T c.2340C>T (p.Ile780=) c.2241C>T (p.Ile747=) c.2655C>T (p.Ile885=) | dbSNP gnomAD v4 COSMIC |
16 | g.9768947G>C | CA394710005 | GRIN2A | c.2499C>G (p.Ile833Met) c.2028C>G (p.Ile676Met) n.2092C>G c.2357-3999C>G (n.2357-3999C>G) c.2088C>G (p.Ile696Met) n.2138C>G n.282C>G c.2340C>G (p.Ile780Met) c.2241C>G (p.Ile747Met) c.2655C>G (p.Ile885Met) | |
16 | g.9768947G= | CA2206695653 | GRIN2A | c.2499C= (p.Ile833=) c.2028C= (p.Ile676=) n.2092C= c.2357-3999C= (n.2357-3999C=) c.2088C= (p.Ile696=) n.2138C= n.282C= c.2340C= (p.Ile780=) c.2241C= (p.Ile747=) c.2655C= (p.Ile885=) | |
16 | g.9768947G>T | CA493693644 | GRIN2A | c.2499C>A (p.Ile833=) c.2028C>A (p.Ile676=) n.2092C>A c.2357-3999C>A (n.2357-3999C>A) c.2088C>A (p.Ile696=) n.2138C>A n.282C>A c.2340C>A (p.Ile780=) c.2241C>A (p.Ile747=) c.2655C>A (p.Ile885=) | |
16 | g.9768948A>C | CA394710006 | GRIN2A | c.2498T>G (p.Ile833Ser) c.2027T>G (p.Ile676Ser) n.2091T>G c.2357-4000T>G (n.2357-4000T>G) c.2087T>G (p.Ile696Ser) n.2137T>G n.281T>G c.2339T>G (p.Ile780Ser) c.2240T>G (p.Ile747Ser) c.2654T>G (p.Ile885Ser) | |
16 | g.9768948A>G | CA394710007 | GRIN2A | c.2498T>C (p.Ile833Thr) c.2027T>C (p.Ile676Thr) n.2091T>C c.2357-4000T>C (n.2357-4000T>C) c.2087T>C (p.Ile696Thr) n.2137T>C n.281T>C c.2339T>C (p.Ile780Thr) c.2240T>C (p.Ile747Thr) c.2654T>C (p.Ile885Thr) | dbSNP |
16 | g.9768948A>T | CA394710008 | GRIN2A | c.2498T>A (p.Ile833Asn) c.2027T>A (p.Ile676Asn) n.2091T>A c.2357-4000T>A (n.2357-4000T>A) c.2087T>A (p.Ile696Asn) n.2137T>A n.281T>A c.2339T>A (p.Ile780Asn) c.2240T>A (p.Ile747Asn) c.2654T>A (p.Ile885Asn) | dbSNP |
16 | g.9768949T>A | CA394710009 | GRIN2A | c.2497A>T (p.Ile833Phe) c.2026A>T (p.Ile676Phe) n.2090A>T c.2357-4001A>T (n.2357-4001A>T) c.2086A>T (p.Ile696Phe) n.2136A>T n.280A>T c.2338A>T (p.Ile780Phe) c.2239A>T (p.Ile747Phe) c.2653A>T (p.Ile885Phe) | dbSNP |
16 | g.9768949T>C | CA7896500 | GRIN2A | c.2497A>G (p.Ile833Val) c.2026A>G (p.Ile676Val) n.2090A>G c.2357-4001A>G (n.2357-4001A>G) c.2086A>G (p.Ile696Val) n.2136A>G n.280A>G c.2338A>G (p.Ile780Val) c.2239A>G (p.Ile747Val) c.2653A>G (p.Ile885Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.9768949T>G | CA394710010 | GRIN2A | c.2497A>C (p.Ile833Leu) c.2026A>C (p.Ile676Leu) n.2090A>C c.2357-4001A>C (n.2357-4001A>C) c.2086A>C (p.Ile696Leu) n.2136A>C n.280A>C c.2338A>C (p.Ile780Leu) c.2239A>C (p.Ile747Leu) c.2653A>C (p.Ile885Leu) | dbSNP gnomAD v4 |
16 | g.9768949T= | CA2206695654 | GRIN2A | c.2497A= (p.Ile833=) c.2026A= (p.Ile676=) n.2090A= c.2357-4001A= (n.2357-4001A=) c.2086A= (p.Ile696=) n.2136A= n.280A= c.2338A= (p.Ile780=) c.2239A= (p.Ile747=) c.2653A= (p.Ile885=) | |
16 | g.9768950G>A | CA493693645 | GRIN2A | c.2496C>T (p.Leu832=) c.2025C>T (p.Leu675=) n.2089C>T c.2357-4002C>T (n.2357-4002C>T) c.2085C>T (p.Leu695=) n.2135C>T n.279C>T c.2337C>T (p.Leu779=) c.2238C>T (p.Leu746=) c.2652C>T (p.Leu884=) | dbSNP gnomAD v4 |
16 | g.9768950G>C | CA493693646 | GRIN2A | c.2496C>G (p.Leu832=) c.2025C>G (p.Leu675=) n.2089C>G c.2357-4002C>G (n.2357-4002C>G) c.2085C>G (p.Leu695=) n.2135C>G n.279C>G c.2337C>G (p.Leu779=) c.2238C>G (p.Leu746=) c.2652C>G (p.Leu884=) | dbSNP |
16 | g.9768950G>T | CA493693647 | GRIN2A | c.2496C>A (p.Leu832=) c.2025C>A (p.Leu675=) n.2089C>A c.2357-4002C>A (n.2357-4002C>A) c.2085C>A (p.Leu695=) n.2135C>A n.279C>A c.2337C>A (p.Leu779=) c.2238C>A (p.Leu746=) c.2652C>A (p.Leu884=) | |
16 | g.9768951A>C | CA394710011 | GRIN2A | c.2495T>G (p.Leu832Arg) c.2024T>G (p.Leu675Arg) n.2088T>G c.2357-4003T>G (n.2357-4003T>G) c.2084T>G (p.Leu695Arg) n.2134T>G n.278T>G c.2336T>G (p.Leu779Arg) c.2237T>G (p.Leu746Arg) c.2651T>G (p.Leu884Arg) | |
16 | g.9768951A>G | CA394710013 | GRIN2A | c.2495T>C (p.Leu832Pro) c.2024T>C (p.Leu675Pro) n.2088T>C c.2357-4003T>C (n.2357-4003T>C) c.2084T>C (p.Leu695Pro) n.2134T>C n.278T>C c.2336T>C (p.Leu779Pro) c.2237T>C (p.Leu746Pro) c.2651T>C (p.Leu884Pro) | |
16 | g.9768951A>T | CA394710012 | GRIN2A | c.2495T>A (p.Leu832His) c.2024T>A (p.Leu675His) n.2088T>A c.2357-4003T>A (n.2357-4003T>A) c.2084T>A (p.Leu695His) n.2134T>A n.278T>A c.2336T>A (p.Leu779His) c.2237T>A (p.Leu746His) c.2651T>A (p.Leu884His) | |
16 | g.9768952G>A | CA277546480 | GRIN2A | c.2494C>T (p.Leu832Phe) c.2023C>T (p.Leu675Phe) n.2087C>T c.2357-4004C>T (n.2357-4004C>T) c.2083C>T (p.Leu695Phe) n.2133C>T n.277C>T c.2335C>T (p.Leu779Phe) c.2236C>T (p.Leu746Phe) c.2650C>T (p.Leu884Phe) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.9768952G>C | CA394710014 | GRIN2A | c.2494C>G (p.Leu832Val) c.2023C>G (p.Leu675Val) n.2087C>G c.2357-4004C>G (n.2357-4004C>G) c.2083C>G (p.Leu695Val) n.2133C>G n.277C>G c.2335C>G (p.Leu779Val) c.2236C>G (p.Leu746Val) c.2650C>G (p.Leu884Val) | dbSNP |
16 | g.9768952G= | CA2206695655 | GRIN2A | c.2494C= (p.Leu832=) c.2023C= (p.Leu675=) n.2087C= c.2357-4004C= (n.2357-4004C=) c.2083C= (p.Leu695=) n.2133C= n.277C= c.2335C= (p.Leu779=) c.2236C= (p.Leu746=) c.2650C= (p.Leu884=) | |
16 | g.9768952G>T | CA7896501 | GRIN2A | c.2494C>A (p.Leu832Ile) c.2023C>A (p.Leu675Ile) n.2087C>A c.2357-4004C>A (n.2357-4004C>A) c.2083C>A (p.Leu695Ile) n.2133C>A n.277C>A c.2335C>A (p.Leu779Ile) c.2236C>A (p.Leu746Ile) c.2650C>A (p.Leu884Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.9768953G>A | CA493693649 | GRIN2A | c.2493C>T (p.Ser831=) c.2022C>T (p.Ser674=) n.2086C>T c.2357-4005C>T (n.2357-4005C>T) c.2082C>T (p.Ser694=) n.2132C>T n.276C>T c.2334C>T (p.Ser778=) c.2235C>T (p.Ser745=) c.2649C>T (p.Ser883=) | dbSNP |
16 | g.9768953G>C | CA394710015 | GRIN2A | c.2493C>G (p.Ser831Arg) c.2022C>G (p.Ser674Arg) n.2086C>G c.2357-4005C>G (n.2357-4005C>G) c.2082C>G (p.Ser694Arg) n.2132C>G n.276C>G c.2334C>G (p.Ser778Arg) c.2235C>G (p.Ser745Arg) c.2649C>G (p.Ser883Arg) | dbSNP |
16 | g.9768953G>T | CA394710016 | GRIN2A | c.2493C>A (p.Ser831Arg) c.2022C>A (p.Ser674Arg) n.2086C>A c.2357-4005C>A (n.2357-4005C>A) c.2082C>A (p.Ser694Arg) n.2132C>A n.276C>A c.2334C>A (p.Ser778Arg) c.2235C>A (p.Ser745Arg) c.2649C>A (p.Ser883Arg) | |
16 | g.9768954C>A | CA394710017 | GRIN2A | c.2492G>T (p.Ser831Ile) c.2021G>T (p.Ser674Ile) n.2085G>T c.2357-4006G>T (n.2357-4006G>T) c.2081G>T (p.Ser694Ile) n.2131G>T n.275G>T c.2333G>T (p.Ser778Ile) c.2234G>T (p.Ser745Ile) c.2648G>T (p.Ser883Ile) | |
16 | g.9768954C>G | CA394710018 | GRIN2A | c.2492G>C (p.Ser831Thr) c.2021G>C (p.Ser674Thr) n.2085G>C c.2357-4006G>C (n.2357-4006G>C) c.2081G>C (p.Ser694Thr) n.2131G>C n.275G>C c.2333G>C (p.Ser778Thr) c.2234G>C (p.Ser745Thr) c.2648G>C (p.Ser883Thr) | dbSNP |
16 | g.9768954C>T | CA394710019 | GRIN2A | c.2492G>A (p.Ser831Asn) c.2021G>A (p.Ser674Asn) n.2085G>A c.2357-4006G>A (n.2357-4006G>A) c.2081G>A (p.Ser694Asn) n.2131G>A n.275G>A c.2333G>A (p.Ser778Asn) c.2234G>A (p.Ser745Asn) c.2648G>A (p.Ser883Asn) | |
16 | g.9768955T>A | CA394710020 | GRIN2A | c.2491A>T (p.Ser831Cys) c.2020A>T (p.Ser674Cys) n.2084A>T c.2357-4007A>T (n.2357-4007A>T) c.2080A>T (p.Ser694Cys) n.2130A>T n.274A>T c.2332A>T (p.Ser778Cys) c.2233A>T (p.Ser745Cys) c.2647A>T (p.Ser883Cys) | |
16 | g.9768955T>C | CA394710021 | GRIN2A | c.2491A>G (p.Ser831Gly) c.2020A>G (p.Ser674Gly) n.2084A>G c.2357-4007A>G (n.2357-4007A>G) c.2080A>G (p.Ser694Gly) n.2130A>G n.274A>G c.2332A>G (p.Ser778Gly) c.2233A>G (p.Ser745Gly) c.2647A>G (p.Ser883Gly) | |
16 | g.9768955T>G | CA394710022 | GRIN2A | c.2491A>C (p.Ser831Arg) c.2020A>C (p.Ser674Arg) n.2084A>C c.2357-4007A>C (n.2357-4007A>C) c.2080A>C (p.Ser694Arg) n.2130A>C n.274A>C c.2332A>C (p.Ser778Arg) c.2233A>C (p.Ser745Arg) c.2647A>C (p.Ser883Arg) | |
16 | g.9768956A= | CA2206695656 | GRIN2A | c.2490T= (p.Leu830=) c.2019T= (p.Leu673=) n.2083T= c.2357-4008T= (n.2357-4008T=) c.2079T= (p.Leu693=) n.2129T= n.273T= c.2331T= (p.Leu777=) c.2232T= (p.Leu744=) c.2646T= (p.Leu882=) | |
16 | g.9768956A>C | CA493693515 | GRIN2A | c.2490T>G (p.Leu830=) c.2019T>G (p.Leu673=) n.2083T>G c.2357-4008T>G (n.2357-4008T>G) c.2079T>G (p.Leu693=) n.2129T>G n.273T>G c.2331T>G (p.Leu777=) c.2232T>G (p.Leu744=) c.2646T>G (p.Leu882=) | |
16 | g.9768956A>G | CA493693517 | GRIN2A | c.2490T>C (p.Leu830=) c.2019T>C (p.Leu673=) n.2083T>C c.2357-4008T>C (n.2357-4008T>C) c.2079T>C (p.Leu693=) n.2129T>C n.273T>C c.2331T>C (p.Leu777=) c.2232T>C (p.Leu744=) c.2646T>C (p.Leu882=) | dbSNP |
16 | g.9768956A>T | CA493693516 | GRIN2A | c.2490T>A (p.Leu830=) c.2019T>A (p.Leu673=) n.2083T>A c.2357-4008T>A (n.2357-4008T>A) c.2079T>A (p.Leu693=) n.2129T>A n.273T>A c.2331T>A (p.Leu777=) c.2232T>A (p.Leu744=) c.2646T>A (p.Leu882=) | |
16 | g.9768957A>C | CA394710024 | GRIN2A | c.2489T>G (p.Leu830Arg) c.2018T>G (p.Leu673Arg) n.2082T>G c.2357-4009T>G (n.2357-4009T>G) c.2078T>G (p.Leu693Arg) n.2128T>G n.272T>G c.2330T>G (p.Leu777Arg) c.2231T>G (p.Leu744Arg) c.2645T>G (p.Leu882Arg) | |
16 | g.9768957A>G | CA394710025 | GRIN2A | c.2489T>C (p.Leu830Pro) c.2018T>C (p.Leu673Pro) n.2082T>C c.2357-4009T>C (n.2357-4009T>C) c.2078T>C (p.Leu693Pro) n.2128T>C n.272T>C c.2330T>C (p.Leu777Pro) c.2231T>C (p.Leu744Pro) c.2645T>C (p.Leu882Pro) | dbSNP |
16 | g.9768957A>T | CA394710023 | GRIN2A | c.2489T>A (p.Leu830His) c.2018T>A (p.Leu673His) n.2082T>A c.2357-4009T>A (n.2357-4009T>A) c.2078T>A (p.Leu693His) n.2128T>A n.272T>A c.2330T>A (p.Leu777His) c.2231T>A (p.Leu744His) c.2645T>A (p.Leu882His) | dbSNP |
16 | g.9768958G>A | CA394710028 | GRIN2A | c.2488C>T (p.Leu830Phe) c.2017C>T (p.Leu673Phe) n.2081C>T c.2357-4010C>T (n.2357-4010C>T) c.2077C>T (p.Leu693Phe) n.2127C>T n.271C>T c.2329C>T (p.Leu777Phe) c.2230C>T (p.Leu744Phe) c.2644C>T (p.Leu882Phe) | dbSNP |
16 | g.9768958G>C | CA394710026 | GRIN2A | c.2488C>G (p.Leu830Val) c.2017C>G (p.Leu673Val) n.2081C>G c.2357-4010C>G (n.2357-4010C>G) c.2077C>G (p.Leu693Val) n.2127C>G n.271C>G c.2329C>G (p.Leu777Val) c.2230C>G (p.Leu744Val) c.2644C>G (p.Leu882Val) | |
16 | g.9768958G>T | CA394710027 | GRIN2A | c.2488C>A (p.Leu830Ile) c.2017C>A (p.Leu673Ile) n.2081C>A c.2357-4010C>A (n.2357-4010C>A) c.2077C>A (p.Leu693Ile) n.2127C>A n.271C>A c.2329C>A (p.Leu777Ile) c.2230C>A (p.Leu744Ile) c.2644C>A (p.Leu882Ile) | |
16 | g.9768960dup | CA2573332046 | GRIN2A | c.2488dup (p.Leu830ProfsTer2) c.2017dup (p.Leu673ProfsTer2) n.2081dup c.2357-4010dup (n.2357-4010dup) c.2077dup (p.Leu693ProfsTer2) n.2127dup n.271dup c.2329dup (p.Leu777ProfsTer2) c.2230dup (p.Leu744ProfsTer2) c.2644dup (p.Leu882ProfsTer2) | |
16 | g.9768959G>A | CA493693523 | GRIN2A | c.2487C>T (p.Ala829=) c.2016C>T (p.Ala672=) n.2080C>T c.2357-4011C>T (n.2357-4011C>T) c.2076C>T (p.Ala692=) n.2126C>T n.270C>T c.2328C>T (p.Ala776=) c.2229C>T (p.Ala743=) c.2643C>T (p.Ala881=) | dbSNP |
16 | g.9768959G>C | CA493693522 | GRIN2A | c.2487C>G (p.Ala829=) c.2016C>G (p.Ala672=) n.2080C>G c.2357-4011C>G (n.2357-4011C>G) c.2076C>G (p.Ala692=) n.2126C>G n.270C>G c.2328C>G (p.Ala776=) c.2229C>G (p.Ala743=) c.2643C>G (p.Ala881=) | |
16 | g.9768959G= | CA2206695657 | GRIN2A | c.2487C= (p.Ala829=) c.2016C= (p.Ala672=) n.2080C= c.2357-4011C= (n.2357-4011C=) c.2076C= (p.Ala692=) n.2126C= n.270C= c.2328C= (p.Ala776=) c.2229C= (p.Ala743=) c.2643C= (p.Ala881=) | |
16 | g.9768959G>T | CA7896502 | GRIN2A | c.2487C>A (p.Ala829=) c.2016C>A (p.Ala672=) n.2080C>A c.2357-4011C>A (n.2357-4011C>A) c.2076C>A (p.Ala692=) n.2126C>A n.270C>A c.2328C>A (p.Ala776=) c.2229C>A (p.Ala743=) c.2643C>A (p.Ala881=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.9768960G>A | CA394710029 | GRIN2A | c.2486C>T (p.Ala829Val) c.2015C>T (p.Ala672Val) n.2079C>T c.2357-4012C>T (n.2357-4012C>T) c.2075C>T (p.Ala692Val) n.2125C>T n.269C>T c.2327C>T (p.Ala776Val) c.2228C>T (p.Ala743Val) c.2642C>T (p.Ala881Val) | dbSNP COSMIC |
16 | g.9768960G>C | CA394710030 | GRIN2A | c.2486C>G (p.Ala829Gly) c.2015C>G (p.Ala672Gly) n.2079C>G c.2357-4012C>G (n.2357-4012C>G) c.2075C>G (p.Ala692Gly) n.2125C>G n.269C>G c.2327C>G (p.Ala776Gly) c.2228C>G (p.Ala743Gly) c.2642C>G (p.Ala881Gly) | |
16 | g.9768960G>T | CA394710031 | GRIN2A | c.2486C>A (p.Ala829Asp) c.2015C>A (p.Ala672Asp) n.2079C>A c.2357-4012C>A (n.2357-4012C>A) c.2075C>A (p.Ala692Asp) n.2125C>A n.269C>A c.2327C>A (p.Ala776Asp) c.2228C>A (p.Ala743Asp) c.2642C>A (p.Ala881Asp) | dbSNP |
16 | g.9768961C>A | CA394710032 | GRIN2A | c.2485G>T (p.Ala829Ser) c.2014G>T (p.Ala672Ser) n.2078G>T c.2357-4013G>T (n.2357-4013G>T) c.2074G>T (p.Ala692Ser) n.2124G>T n.268G>T c.2326G>T (p.Ala776Ser) c.2227G>T (p.Ala743Ser) c.2641G>T (p.Ala881Ser) | dbSNP |
16 | g.9768961C>G | CA394710033 | GRIN2A | c.2485G>C (p.Ala829Pro) c.2014G>C (p.Ala672Pro) n.2078G>C c.2357-4013G>C (n.2357-4013G>C) c.2074G>C (p.Ala692Pro) n.2124G>C n.268G>C c.2326G>C (p.Ala776Pro) c.2227G>C (p.Ala743Pro) c.2641G>C (p.Ala881Pro) | dbSNP |
16 | g.9768961C>T | CA394710034 | GRIN2A | c.2485G>A (p.Ala829Thr) c.2014G>A (p.Ala672Thr) n.2078G>A c.2357-4013G>A (n.2357-4013G>A) c.2074G>A (p.Ala692Thr) n.2124G>A n.268G>A c.2326G>A (p.Ala776Thr) c.2227G>A (p.Ala743Thr) c.2641G>A (p.Ala881Thr) | dbSNP |
16 | g.9768962C>A | CA394710035 | GRIN2A | c.2484G>T (p.Met828Ile) c.2013G>T (p.Met671Ile) n.2077G>T c.2357-4014G>T (n.2357-4014G>T) c.2073G>T (p.Met691Ile) n.2123G>T n.267G>T c.2325G>T (p.Met775Ile) c.2226G>T (p.Met742Ile) c.2640G>T (p.Met880Ile) | |
16 | g.9768962C>G | CA394710036 | GRIN2A | c.2484G>C (p.Met828Ile) c.2013G>C (p.Met671Ile) n.2077G>C c.2357-4014G>C (n.2357-4014G>C) c.2073G>C (p.Met691Ile) n.2123G>C n.267G>C c.2325G>C (p.Met775Ile) c.2226G>C (p.Met742Ile) c.2640G>C (p.Met880Ile) | dbSNP |
16 | g.9768962C>T | CA394710037 | GRIN2A | c.2484G>A (p.Met828Ile) c.2013G>A (p.Met671Ile) n.2077G>A c.2357-4014G>A (n.2357-4014G>A) c.2073G>A (p.Met691Ile) n.2123G>A n.267G>A c.2325G>A (p.Met775Ile) c.2226G>A (p.Met742Ile) c.2640G>A (p.Met880Ile) | gnomAD v4 |
16 | g.9768963A= | CA2206695658 | GRIN2A | c.2483T= (p.Met828=) c.2012T= (p.Met671=) n.2076T= c.2357-4015T= (n.2357-4015T=) c.2072T= (p.Met691=) n.2122T= n.266T= c.2324T= (p.Met775=) c.2225T= (p.Met742=) c.2639T= (p.Met880=) | |
16 | g.9768963A>C | CA394710039 | GRIN2A | c.2483T>G (p.Met828Arg) c.2012T>G (p.Met671Arg) n.2076T>G c.2357-4015T>G (n.2357-4015T>G) c.2072T>G (p.Met691Arg) n.2122T>G n.266T>G c.2324T>G (p.Met775Arg) c.2225T>G (p.Met742Arg) c.2639T>G (p.Met880Arg) | dbSNP |
16 | g.9768963A>G | CA394710040 | GRIN2A | c.2483T>C (p.Met828Thr) c.2012T>C (p.Met671Thr) n.2076T>C c.2357-4015T>C (n.2357-4015T>C) c.2072T>C (p.Met691Thr) n.2122T>C n.266T>C c.2324T>C (p.Met775Thr) c.2225T>C (p.Met742Thr) c.2639T>C (p.Met880Thr) | dbSNP gnomAD v2 |
16 | g.9768963A>T | CA394710038 | GRIN2A | c.2483T>A (p.Met828Lys) c.2012T>A (p.Met671Lys) n.2076T>A c.2357-4015T>A (n.2357-4015T>A) c.2072T>A (p.Met691Lys) n.2122T>A n.266T>A c.2324T>A (p.Met775Lys) c.2225T>A (p.Met742Lys) c.2639T>A (p.Met880Lys) | dbSNP |
16 | g.9768964T>A | CA394710041 | GRIN2A | c.2482A>T (p.Met828Leu) c.2011A>T (p.Met671Leu) n.2075A>T c.2357-4016A>T (n.2357-4016A>T) c.2071A>T (p.Met691Leu) n.2121A>T n.265A>T c.2323A>T (p.Met775Leu) c.2224A>T (p.Met742Leu) c.2638A>T (p.Met880Leu) | dbSNP |
16 | g.9768964T>C | CA501045 | GRIN2A | c.2482A>G (p.Met828Val) c.2011A>G (p.Met671Val) n.2075A>G c.2357-4016A>G (n.2357-4016A>G) c.2071A>G (p.Met691Val) n.2121A>G n.265A>G c.2323A>G (p.Met775Val) c.2224A>G (p.Met742Val) c.2638A>G (p.Met880Val) | |
16 | g.9768964T>G | CA394710042 | GRIN2A | c.2482A>C (p.Met828Leu) c.2011A>C (p.Met671Leu) n.2075A>C c.2357-4016A>C (n.2357-4016A>C) c.2071A>C (p.Met691Leu) n.2121A>C n.265A>C c.2323A>C (p.Met775Leu) c.2224A>C (p.Met742Leu) c.2638A>C (p.Met880Leu) | dbSNP |
16 | g.9768965G>A | CA493693529 | GRIN2A | c.2481C>T (p.Ala827=) c.2010C>T (p.Ala670=) n.2074C>T c.2357-4017C>T (n.2357-4017C>T) c.2070C>T (p.Ala690=) n.2120C>T n.264C>T c.2322C>T (p.Ala774=) c.2223C>T (p.Ala741=) c.2637C>T (p.Ala879=) | |
16 | g.9768965G>C | CA493693530 | GRIN2A | c.2481C>G (p.Ala827=) c.2010C>G (p.Ala670=) n.2074C>G c.2357-4017C>G (n.2357-4017C>G) c.2070C>G (p.Ala690=) n.2120C>G n.264C>G c.2322C>G (p.Ala774=) c.2223C>G (p.Ala741=) c.2637C>G (p.Ala879=) | |
16 | g.9768965G>T | CA493693532 | GRIN2A | c.2481C>A (p.Ala827=) c.2010C>A (p.Ala670=) n.2074C>A c.2357-4017C>A (n.2357-4017C>A) c.2070C>A (p.Ala690=) n.2120C>A n.264C>A c.2322C>A (p.Ala774=) c.2223C>A (p.Ala741=) c.2637C>A (p.Ala879=) | |
16 | g.9768966G>A | CA394710043 | GRIN2A | c.2480C>T (p.Ala827Val) c.2009C>T (p.Ala670Val) n.2073C>T c.2357-4018C>T (n.2357-4018C>T) c.2069C>T (p.Ala690Val) n.2119C>T n.263C>T c.2321C>T (p.Ala774Val) c.2222C>T (p.Ala741Val) c.2636C>T (p.Ala879Val) | dbSNP gnomAD v4 |
16 | g.9768966G>C | CA394710044 | GRIN2A | c.2480C>G (p.Ala827Gly) c.2009C>G (p.Ala670Gly) n.2073C>G c.2357-4018C>G (n.2357-4018C>G) c.2069C>G (p.Ala690Gly) n.2119C>G n.263C>G c.2321C>G (p.Ala774Gly) c.2222C>G (p.Ala741Gly) c.2636C>G (p.Ala879Gly) | dbSNP |
16 | g.9768966G>T | CA394710045 | GRIN2A | c.2480C>A (p.Ala827Asp) c.2009C>A (p.Ala670Asp) n.2073C>A c.2357-4018C>A (n.2357-4018C>A) c.2069C>A (p.Ala690Asp) n.2119C>A n.263C>A c.2321C>A (p.Ala774Asp) c.2222C>A (p.Ala741Asp) c.2636C>A (p.Ala879Asp) | |
16 | g.9768967C>A | CA394710046 | GRIN2A | c.2479G>T (p.Ala827Ser) c.2008G>T (p.Ala670Ser) n.2072G>T c.2357-4019G>T (n.2357-4019G>T) c.2068G>T (p.Ala690Ser) n.2118G>T n.262G>T c.2320G>T (p.Ala774Ser) c.2221G>T (p.Ala741Ser) c.2635G>T (p.Ala879Ser) | |
16 | g.9768967C= | CA2206695659 | GRIN2A | c.2479G= (p.Ala827=) c.2008G= (p.Ala670=) n.2072G= c.2357-4019G= (n.2357-4019G=) c.2068G= (p.Ala690=) n.2118G= n.262G= c.2320G= (p.Ala774=) c.2221G= (p.Ala741=) c.2635G= (p.Ala879=) | |
16 | g.9768967C>G | CA394710048 | GRIN2A | c.2479G>C (p.Ala827Pro) c.2008G>C (p.Ala670Pro) n.2072G>C c.2357-4019G>C (n.2357-4019G>C) c.2068G>C (p.Ala690Pro) n.2118G>C n.262G>C c.2320G>C (p.Ala774Pro) c.2221G>C (p.Ala741Pro) c.2635G>C (p.Ala879Pro) | dbSNP |
16 | g.9768967C>T | CA394710047 | GRIN2A | c.2479G>A (p.Ala827Thr) c.2008G>A (p.Ala670Thr) n.2072G>A c.2357-4019G>A (n.2357-4019G>A) c.2068G>A (p.Ala690Thr) n.2118G>A n.262G>A c.2320G>A (p.Ala774Thr) c.2221G>A (p.Ala741Thr) c.2635G>A (p.Ala879Thr) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.9768968G>A | CA7896503 | GRIN2A | c.2478C>T (p.Ala826=) c.2007C>T (p.Ala669=) n.2071C>T c.2357-4020C>T (n.2357-4020C>T) c.2067C>T (p.Ala689=) n.2117C>T n.261C>T c.2319C>T (p.Ala773=) c.2220C>T (p.Ala740=) c.2634C>T (p.Ala878=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.9768968G>C | CA493693537 | GRIN2A | c.2478C>G (p.Ala826=) c.2007C>G (p.Ala669=) n.2071C>G c.2357-4020C>G (n.2357-4020C>G) c.2067C>G (p.Ala689=) n.2117C>G n.261C>G c.2319C>G (p.Ala773=) c.2220C>G (p.Ala740=) c.2634C>G (p.Ala878=) | dbSNP |
16 | g.9768968G= | CA2206695660 | GRIN2A | c.2478C= (p.Ala826=) c.2007C= (p.Ala669=) n.2071C= c.2357-4020C= (n.2357-4020C=) c.2067C= (p.Ala689=) n.2117C= n.261C= c.2319C= (p.Ala773=) c.2220C= (p.Ala740=) c.2634C= (p.Ala878=) | |
16 | g.9768968G>T | CA493693538 | GRIN2A | c.2478C>A (p.Ala826=) c.2007C>A (p.Ala669=) n.2071C>A c.2357-4020C>A (n.2357-4020C>A) c.2067C>A (p.Ala689=) n.2117C>A n.261C>A c.2319C>A (p.Ala773=) c.2220C>A (p.Ala740=) c.2634C>A (p.Ala878=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
16 | g.9768969G>A | CA394710049 | GRIN2A | c.2477C>T (p.Ala826Val) c.2006C>T (p.Ala669Val) n.2070C>T c.2357-4021C>T (n.2357-4021C>T) c.2066C>T (p.Ala689Val) n.2116C>T n.260C>T c.2318C>T (p.Ala773Val) c.2219C>T (p.Ala740Val) c.2633C>T (p.Ala878Val) | |
16 | g.9768969G>C | CA394710050 | GRIN2A | c.2477C>G (p.Ala826Gly) c.2006C>G (p.Ala669Gly) n.2070C>G c.2357-4021C>G (n.2357-4021C>G) c.2066C>G (p.Ala689Gly) n.2116C>G n.260C>G c.2318C>G (p.Ala773Gly) c.2219C>G (p.Ala740Gly) c.2633C>G (p.Ala878Gly) | dbSNP |
16 | g.9768969G>T | CA394710051 | GRIN2A | c.2477C>A (p.Ala826Asp) c.2006C>A (p.Ala669Asp) n.2070C>A c.2357-4021C>A (n.2357-4021C>A) c.2066C>A (p.Ala689Asp) n.2116C>A n.260C>A c.2318C>A (p.Ala773Asp) c.2219C>A (p.Ala740Asp) c.2633C>A (p.Ala878Asp) | |
16 | g.9768970C>A | CA394710054 | GRIN2A | c.2476G>T (p.Ala826Ser) c.2005G>T (p.Ala669Ser) n.2069G>T c.2357-4022G>T (n.2357-4022G>T) c.2065G>T (p.Ala689Ser) n.2115G>T n.259G>T c.2317G>T (p.Ala773Ser) c.2218G>T (p.Ala740Ser) c.2632G>T (p.Ala878Ser) | dbSNP |
16 | g.9768970C>G | CA394710053 | GRIN2A | c.2476G>C (p.Ala826Pro) c.2005G>C (p.Ala669Pro) n.2069G>C c.2357-4022G>C (n.2357-4022G>C) c.2065G>C (p.Ala689Pro) n.2115G>C n.259G>C c.2317G>C (p.Ala773Pro) c.2218G>C (p.Ala740Pro) c.2632G>C (p.Ala878Pro) | dbSNP |
16 | g.9768970C>T | CA394710052 | GRIN2A | c.2476G>A (p.Ala826Thr) c.2005G>A (p.Ala669Thr) n.2069G>A c.2357-4022G>A (n.2357-4022G>A) c.2065G>A (p.Ala689Thr) n.2115G>A n.259G>A c.2317G>A (p.Ala773Thr) c.2218G>A (p.Ala740Thr) c.2632G>A (p.Ala878Thr) | dbSNP gnomAD v4 |
16 | g.9768971A>C | CA493693541 | GRIN2A | c.2475T>G (p.Ala825=) c.2004T>G (p.Ala668=) n.2068T>G c.2357-4023T>G (n.2357-4023T>G) c.2064T>G (p.Ala688=) n.2114T>G n.258T>G c.2316T>G (p.Ala772=) c.2217T>G (p.Ala739=) c.2631T>G (p.Ala877=) | |
16 | g.9768971A>G | CA493693543 | GRIN2A | c.2475T>C (p.Ala825=) c.2004T>C (p.Ala668=) n.2068T>C c.2357-4023T>C (n.2357-4023T>C) c.2064T>C (p.Ala688=) n.2114T>C n.258T>C c.2316T>C (p.Ala772=) c.2217T>C (p.Ala739=) c.2631T>C (p.Ala877=) | |
16 | g.9768971A>T | CA493693546 | GRIN2A | c.2475T>A (p.Ala825=) c.2004T>A (p.Ala668=) n.2068T>A c.2357-4023T>A (n.2357-4023T>A) c.2064T>A (p.Ala688=) n.2114T>A n.258T>A c.2316T>A (p.Ala772=) c.2217T>A (p.Ala739=) c.2631T>A (p.Ala877=) | ClinVar |
16 | g.9768972G>A | CA394710055 | GRIN2A | c.2474C>T (p.Ala825Val) c.2003C>T (p.Ala668Val) n.2067C>T c.2357-4024C>T (n.2357-4024C>T) c.2063C>T (p.Ala688Val) n.2113C>T n.257C>T c.2315C>T (p.Ala772Val) c.2216C>T (p.Ala739Val) c.2630C>T (p.Ala877Val) | gnomAD v4 |
16 | g.9768972G>C | CA394710056 | GRIN2A | c.2474C>G (p.Ala825Gly) c.2003C>G (p.Ala668Gly) n.2067C>G c.2357-4024C>G (n.2357-4024C>G) c.2063C>G (p.Ala688Gly) n.2113C>G n.257C>G c.2315C>G (p.Ala772Gly) c.2216C>G (p.Ala739Gly) c.2630C>G (p.Ala877Gly) | |
16 | g.9768972G= | CA2206695661 | GRIN2A | c.2474C= (p.Ala825=) c.2003C= (p.Ala668=) n.2067C= c.2357-4024C= (n.2357-4024C=) c.2063C= (p.Ala688=) n.2113C= n.257C= c.2315C= (p.Ala772=) c.2216C= (p.Ala739=) c.2630C= (p.Ala877=) | |
16 | g.9768972G>T | CA394710057 | GRIN2A | c.2474C>A (p.Ala825Asp) c.2003C>A (p.Ala668Asp) n.2067C>A c.2357-4024C>A (n.2357-4024C>A) c.2063C>A (p.Ala688Asp) n.2113C>A n.257C>A c.2315C>A (p.Ala772Asp) c.2216C>A (p.Ala739Asp) c.2630C>A (p.Ala877Asp) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.9768976_9768996del | CA2731723832 | GRIN2A | c.2454_2474del (p.Gly819_Ala825del) c.1983_2003del (p.Gly662_Ala668del) n.2047_2067del c.2357-4044_2357-4024del (n.2357-4044_2357-4024del) c.2043_2063del (p.Gly682_Ala688del) n.2093_2113del n.237_257del c.2295_2315del (p.Gly766_Ala772del) c.2196_2216del (p.Gly733_Ala739del) c.2610_2630del (p.Gly871_Ala877del) | dbSNP |
16 | g.9768973C>A | CA394710058 | GRIN2A | c.2473G>T (p.Ala825Ser) c.2002G>T (p.Ala668Ser) n.2066G>T c.2357-4025G>T (n.2357-4025G>T) c.2062G>T (p.Ala688Ser) n.2112G>T n.256G>T c.2314G>T (p.Ala772Ser) c.2215G>T (p.Ala739Ser) c.2629G>T (p.Ala877Ser) | dbSNP |
16 | g.9768973C>G | CA394710059 | GRIN2A | c.2473G>C (p.Ala825Pro) c.2002G>C (p.Ala668Pro) n.2066G>C c.2357-4025G>C (n.2357-4025G>C) c.2062G>C (p.Ala688Pro) n.2112G>C n.256G>C c.2314G>C (p.Ala772Pro) c.2215G>C (p.Ala739Pro) c.2629G>C (p.Ala877Pro) | COSMIC |
16 | g.9768973C>T | CA394710060 | GRIN2A | c.2473G>A (p.Ala825Thr) c.2002G>A (p.Ala668Thr) n.2066G>A c.2357-4025G>A (n.2357-4025G>A) c.2062G>A (p.Ala688Thr) n.2112G>A n.256G>A c.2314G>A (p.Ala772Thr) c.2215G>A (p.Ala739Thr) c.2629G>A (p.Ala877Thr) | ClinVar |
16 | g.9768974C>A | CA493693551 | GRIN2A | c.2472G>T (p.Leu824=) c.2001G>T (p.Leu667=) n.2065G>T c.2357-4026G>T (n.2357-4026G>T) c.2061G>T (p.Leu687=) n.2111G>T n.255G>T c.2313G>T (p.Leu771=) c.2214G>T (p.Leu738=) c.2628G>T (p.Leu876=) | dbSNP |
16 | g.9768974C= | CA2206695662 | GRIN2A | c.2472G= (p.Leu824=) c.2001G= (p.Leu667=) n.2065G= c.2357-4026G= (n.2357-4026G=) c.2061G= (p.Leu687=) n.2111G= n.255G= c.2313G= (p.Leu771=) c.2214G= (p.Leu738=) c.2628G= (p.Leu876=) | |
16 | g.9768974C>G | CA493693553 | GRIN2A | c.2472G>C (p.Leu824=) c.2001G>C (p.Leu667=) n.2065G>C c.2357-4026G>C (n.2357-4026G>C) c.2061G>C (p.Leu687=) n.2111G>C n.255G>C c.2313G>C (p.Leu771=) c.2214G>C (p.Leu738=) c.2628G>C (p.Leu876=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.9768974C>T | CA493693554 | GRIN2A | c.2472G>A (p.Leu824=) c.2001G>A (p.Leu667=) n.2065G>A c.2357-4026G>A (n.2357-4026G>A) c.2061G>A (p.Leu687=) n.2111G>A n.255G>A c.2313G>A (p.Leu771=) c.2214G>A (p.Leu738=) c.2628G>A (p.Leu876=) | ClinVar dbSNP |
16 | g.9768975A>C | CA394710063 | GRIN2A | c.2471T>G (p.Leu824Arg) c.2000T>G (p.Leu667Arg) n.2064T>G c.2357-4027T>G (n.2357-4027T>G) c.2060T>G (p.Leu687Arg) n.2110T>G n.254T>G c.2312T>G (p.Leu771Arg) c.2213T>G (p.Leu738Arg) c.2627T>G (p.Leu876Arg) | |
16 | g.9768975A>G | CA394710061 | GRIN2A | c.2471T>C (p.Leu824Pro) c.2000T>C (p.Leu667Pro) n.2064T>C c.2357-4027T>C (n.2357-4027T>C) c.2060T>C (p.Leu687Pro) n.2110T>C n.254T>C c.2312T>C (p.Leu771Pro) c.2213T>C (p.Leu738Pro) c.2627T>C (p.Leu876Pro) | |
16 | g.9768975A>T | CA394710062 | GRIN2A | c.2471T>A (p.Leu824Gln) c.2000T>A (p.Leu667Gln) n.2064T>A c.2357-4027T>A (n.2357-4027T>A) c.2060T>A (p.Leu687Gln) n.2110T>A n.254T>A c.2312T>A (p.Leu771Gln) c.2213T>A (p.Leu738Gln) c.2627T>A (p.Leu876Gln) | dbSNP |
16 | g.9768976G>A | CA493693555 | GRIN2A | c.2470C>T (p.Leu824=) c.1999C>T (p.Leu667=) n.2063C>T c.2357-4028C>T (n.2357-4028C>T) c.2059C>T (p.Leu687=) n.2109C>T n.253C>T c.2311C>T (p.Leu771=) c.2212C>T (p.Leu738=) c.2626C>T (p.Leu876=) | dbSNP |
16 | g.9768976G>C | CA394710064 | GRIN2A | c.2470C>G (p.Leu824Val) c.1999C>G (p.Leu667Val) n.2063C>G c.2357-4028C>G (n.2357-4028C>G) c.2059C>G (p.Leu687Val) n.2109C>G n.253C>G c.2311C>G (p.Leu771Val) c.2212C>G (p.Leu738Val) c.2626C>G (p.Leu876Val) | dbSNP |
16 | g.9768976G>T | CA394710065 | GRIN2A | c.2470C>A (p.Leu824Met) c.1999C>A (p.Leu667Met) n.2063C>A c.2357-4028C>A (n.2357-4028C>A) c.2059C>A (p.Leu687Met) n.2109C>A n.253C>A c.2311C>A (p.Leu771Met) c.2212C>A (p.Leu738Met) c.2626C>A (p.Leu876Met) | dbSNP |
16 | g.9768977C>A | CA394710066 | GRIN2A | c.2469G>T (p.Met823Ile) c.1998G>T (p.Met666Ile) n.2062G>T c.2357-4029G>T (n.2357-4029G>T) c.2058G>T (p.Met686Ile) n.2108G>T n.252G>T c.2310G>T (p.Met770Ile) c.2211G>T (p.Met737Ile) c.2625G>T (p.Met875Ile) | dbSNP |
16 | g.9768977C>G | CA394710067 | GRIN2A | c.2469G>C (p.Met823Ile) c.1998G>C (p.Met666Ile) n.2062G>C c.2357-4029G>C (n.2357-4029G>C) c.2058G>C (p.Met686Ile) n.2108G>C n.252G>C c.2310G>C (p.Met770Ile) c.2211G>C (p.Met737Ile) c.2625G>C (p.Met875Ile) | dbSNP |
16 | g.9768977C>T | CA394710068 | GRIN2A | c.2469G>A (p.Met823Ile) c.1998G>A (p.Met666Ile) n.2062G>A c.2357-4029G>A (n.2357-4029G>A) c.2058G>A (p.Met686Ile) n.2108G>A n.252G>A c.2310G>A (p.Met770Ile) c.2211G>A (p.Met737Ile) c.2625G>A (p.Met875Ile) | dbSNP |
16 | g.9768982_9768999del | CA645570194 | GRIN2A | c.2452_2469del (p.Ala818_Met823del) c.1981_1998del (p.Ala661_Met666del) n.2045_2062del c.2357-4046_2357-4029del (n.2357-4046_2357-4029del) c.2041_2058del (p.Ala681_Met686del) n.2091_2108del n.235_252del c.2293_2310del (p.Ala765_Met770del) c.2194_2211del (p.Ala732_Met737del) c.2608_2625del (p.Ala870_Met875del) | COSMIC |
16 | g.9768978A>C | CA394710069 | GRIN2A | c.2468T>G (p.Met823Arg) c.1997T>G (p.Met666Arg) n.2061T>G c.2357-4030T>G (n.2357-4030T>G) c.2057T>G (p.Met686Arg) n.2107T>G n.251T>G c.2309T>G (p.Met770Arg) c.2210T>G (p.Met737Arg) c.2624T>G (p.Met875Arg) | |
16 | g.9768978A>G | CA394710071 | GRIN2A | c.2468T>C (p.Met823Thr) c.1997T>C (p.Met666Thr) n.2061T>C c.2357-4030T>C (n.2357-4030T>C) c.2057T>C (p.Met686Thr) n.2107T>C n.251T>C c.2309T>C (p.Met770Thr) c.2210T>C (p.Met737Thr) c.2624T>C (p.Met875Thr) | |
16 | g.9768978A>T | CA394710070 | GRIN2A | c.2468T>A (p.Met823Lys) c.1997T>A (p.Met666Lys) n.2061T>A c.2357-4030T>A (n.2357-4030T>A) c.2057T>A (p.Met686Lys) n.2107T>A n.251T>A c.2309T>A (p.Met770Lys) c.2210T>A (p.Met737Lys) c.2624T>A (p.Met875Lys) | |
16 | g.9768979T>A | CA394710072 | GRIN2A | c.2467A>T (p.Met823Leu) c.1996A>T (p.Met666Leu) n.2060A>T c.2357-4031A>T (n.2357-4031A>T) c.2056A>T (p.Met686Leu) n.2106A>T n.250A>T c.2308A>T (p.Met770Leu) c.2209A>T (p.Met737Leu) c.2623A>T (p.Met875Leu) | |
16 | g.9768979T>C | CA394710073 | GRIN2A | c.2467A>G (p.Met823Val) c.1996A>G (p.Met666Val) n.2060A>G c.2357-4031A>G (n.2357-4031A>G) c.2056A>G (p.Met686Val) n.2106A>G n.250A>G c.2308A>G (p.Met770Val) c.2209A>G (p.Met737Val) c.2623A>G (p.Met875Val) | ClinVar |
16 | g.9768979T>G | CA394710074 | GRIN2A | c.2467A>C (p.Met823Leu) c.1996A>C (p.Met666Leu) n.2060A>C c.2357-4031A>C (n.2357-4031A>C) c.2056A>C (p.Met686Leu) n.2106A>C n.250A>C c.2308A>C (p.Met770Leu) c.2209A>C (p.Met737Leu) c.2623A>C (p.Met875Leu) | gnomAD v4 |
16 | g.9768980G>A | CA493693567 | GRIN2A | c.2466C>T (p.Tyr822=) c.1995C>T (p.Tyr665=) n.2059C>T c.2357-4032C>T (n.2357-4032C>T) c.2055C>T (p.Tyr685=) n.2105C>T n.249C>T c.2307C>T (p.Tyr769=) c.2208C>T (p.Tyr736=) c.2622C>T (p.Tyr874=) | ClinVar dbSNP |
16 | g.9768980G>C | CA394710075 | GRIN2A | c.2466C>G (p.Tyr822Ter) c.1995C>G (p.Tyr665Ter) n.2059C>G c.2357-4032C>G (n.2357-4032C>G) c.2055C>G (p.Tyr685Ter) n.2105C>G n.249C>G c.2307C>G (p.Tyr769Ter) c.2208C>G (p.Tyr736Ter) c.2622C>G (p.Tyr874Ter) | ClinVar |
16 | g.9768980G>T | CA394710076 | GRIN2A | c.2466C>A (p.Tyr822Ter) c.1995C>A (p.Tyr665Ter) n.2059C>A c.2357-4032C>A (n.2357-4032C>A) c.2055C>A (p.Tyr685Ter) n.2105C>A n.249C>A c.2307C>A (p.Tyr769Ter) c.2208C>A (p.Tyr736Ter) c.2622C>A (p.Tyr874Ter) | |
16 | g.9768981T>A | CA394710077 | GRIN2A | c.2465A>T (p.Tyr822Phe) c.1994A>T (p.Tyr665Phe) n.2058A>T c.2357-4033A>T (n.2357-4033A>T) c.2054A>T (p.Tyr685Phe) n.2104A>T n.248A>T c.2306A>T (p.Tyr769Phe) c.2207A>T (p.Tyr736Phe) c.2621A>T (p.Tyr874Phe) | dbSNP |
16 | g.9768981T>C | CA394710078 | GRIN2A | c.2465A>G (p.Tyr822Cys) c.1994A>G (p.Tyr665Cys) n.2058A>G c.2357-4033A>G (n.2357-4033A>G) c.2054A>G (p.Tyr685Cys) n.2104A>G n.248A>G c.2306A>G (p.Tyr769Cys) c.2207A>G (p.Tyr736Cys) c.2621A>G (p.Tyr874Cys) | dbSNP |
16 | g.9768981T>G | CA394710079 | GRIN2A | c.2465A>C (p.Tyr822Ser) c.1994A>C (p.Tyr665Ser) n.2058A>C c.2357-4033A>C (n.2357-4033A>C) c.2054A>C (p.Tyr685Ser) n.2104A>C n.248A>C c.2306A>C (p.Tyr769Ser) c.2207A>C (p.Tyr736Ser) c.2621A>C (p.Tyr874Ser) | dbSNP |
16 | g.9768982A>C | CA394710080 | GRIN2A | c.2464T>G (p.Tyr822Asp) c.1993T>G (p.Tyr665Asp) n.2057T>G c.2357-4034T>G (n.2357-4034T>G) c.2053T>G (p.Tyr685Asp) n.2103T>G n.247T>G c.2305T>G (p.Tyr769Asp) c.2206T>G (p.Tyr736Asp) c.2620T>G (p.Tyr874Asp) | |
16 | g.9768982A>G | CA394710081 | GRIN2A | c.2464T>C (p.Tyr822His) c.1993T>C (p.Tyr665His) n.2057T>C c.2357-4034T>C (n.2357-4034T>C) c.2053T>C (p.Tyr685His) n.2103T>C n.247T>C c.2305T>C (p.Tyr769His) c.2206T>C (p.Tyr736His) c.2620T>C (p.Tyr874His) | ClinVar dbSNP |
16 | g.9768982A>T | CA394710082 | GRIN2A | c.2464T>A (p.Tyr822Asn) c.1993T>A (p.Tyr665Asn) n.2057T>A c.2357-4034T>A (n.2357-4034T>A) c.2053T>A (p.Tyr685Asn) n.2103T>A n.247T>A c.2305T>A (p.Tyr769Asn) c.2206T>A (p.Tyr736Asn) c.2620T>A (p.Tyr874Asn) | |
16 | g.9768983G>A | CA7896504 | GRIN2A | c.2463C>T (p.Phe821=) c.1992C>T (p.Phe664=) n.2056C>T c.2357-4035C>T (n.2357-4035C>T) c.2052C>T (p.Phe684=) n.2102C>T n.246C>T c.2304C>T (p.Phe768=) c.2205C>T (p.Phe735=) c.2619C>T (p.Phe873=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.9768983G>C | CA394710084 | GRIN2A | c.2463C>G (p.Phe821Leu) c.1992C>G (p.Phe664Leu) n.2056C>G c.2357-4035C>G (n.2357-4035C>G) c.2052C>G (p.Phe684Leu) n.2102C>G n.246C>G c.2304C>G (p.Phe768Leu) c.2205C>G (p.Phe735Leu) c.2619C>G (p.Phe873Leu) | |
16 | g.9768983G= | CA2206695663 | GRIN2A | c.2463C= (p.Phe821=) c.1992C= (p.Phe664=) n.2056C= c.2357-4035C= (n.2357-4035C=) c.2052C= (p.Phe684=) n.2102C= n.246C= c.2304C= (p.Phe768=) c.2205C= (p.Phe735=) c.2619C= (p.Phe873=) | |
16 | g.9768983G>T | CA394710083 | GRIN2A | c.2463C>A (p.Phe821Leu) c.1992C>A (p.Phe664Leu) n.2056C>A c.2357-4035C>A (n.2357-4035C>A) c.2052C>A (p.Phe684Leu) n.2102C>A n.246C>A c.2304C>A (p.Phe768Leu) c.2205C>A (p.Phe735Leu) c.2619C>A (p.Phe873Leu) | |
16 | g.9768984A>C | CA394710085 | GRIN2A | c.2462T>G (p.Phe821Cys) c.1991T>G (p.Phe664Cys) n.2055T>G c.2357-4036T>G (n.2357-4036T>G) c.2051T>G (p.Phe684Cys) n.2101T>G n.245T>G c.2303T>G (p.Phe768Cys) c.2204T>G (p.Phe735Cys) c.2618T>G (p.Phe873Cys) | |
16 | g.9768984A>G | CA394710087 | GRIN2A | c.2462T>C (p.Phe821Ser) c.1991T>C (p.Phe664Ser) n.2055T>C c.2357-4036T>C (n.2357-4036T>C) c.2051T>C (p.Phe684Ser) n.2101T>C n.245T>C c.2303T>C (p.Phe768Ser) c.2204T>C (p.Phe735Ser) c.2618T>C (p.Phe873Ser) | |
16 | g.9768984A>T | CA394710086 | GRIN2A | c.2462T>A (p.Phe821Tyr) c.1991T>A (p.Phe664Tyr) n.2055T>A c.2357-4036T>A (n.2357-4036T>A) c.2051T>A (p.Phe684Tyr) n.2101T>A n.245T>A c.2303T>A (p.Phe768Tyr) c.2204T>A (p.Phe735Tyr) c.2618T>A (p.Phe873Tyr) | dbSNP |
16 | g.9768985A>C | CA394710088 | GRIN2A | c.2461T>G (p.Phe821Val) c.1990T>G (p.Phe664Val) n.2054T>G c.2357-4037T>G (n.2357-4037T>G) c.2050T>G (p.Phe684Val) n.2100T>G n.244T>G c.2302T>G (p.Phe768Val) c.2203T>G (p.Phe735Val) c.2617T>G (p.Phe873Val) | dbSNP |
16 | g.9768985A>G | CA394710090 | GRIN2A | c.2461T>C (p.Phe821Leu) c.1990T>C (p.Phe664Leu) n.2054T>C c.2357-4037T>C (n.2357-4037T>C) c.2050T>C (p.Phe684Leu) n.2100T>C n.244T>C c.2302T>C (p.Phe768Leu) c.2203T>C (p.Phe735Leu) c.2617T>C (p.Phe873Leu) | |
16 | g.9768985A>T | CA394710089 | GRIN2A | c.2461T>A (p.Phe821Ile) c.1990T>A (p.Phe664Ile) n.2054T>A c.2357-4037T>A (n.2357-4037T>A) c.2050T>A (p.Phe684Ile) n.2100T>A n.244T>A c.2302T>A (p.Phe768Ile) c.2203T>A (p.Phe735Ile) c.2617T>A (p.Phe873Ile) | |
16 | g.9768986T>A | CA493693578 | GRIN2A | c.2460A>T (p.Val820=) c.1989A>T (p.Val663=) n.2053A>T c.2357-4038A>T (n.2357-4038A>T) c.2049A>T (p.Val683=) n.2099A>T n.243A>T c.2301A>T (p.Val767=) c.2202A>T (p.Val734=) c.2616A>T (p.Val872=) | dbSNP gnomAD v4 |
16 | g.9768986T>C | CA493693579 | GRIN2A | c.2460A>G (p.Val820=) c.1989A>G (p.Val663=) n.2053A>G c.2357-4038A>G (n.2357-4038A>G) c.2049A>G (p.Val683=) n.2099A>G n.243A>G c.2301A>G (p.Val767=) c.2202A>G (p.Val734=) c.2616A>G (p.Val872=) | |
16 | g.9768986T>G | CA493693580 | GRIN2A | c.2460A>C (p.Val820=) c.1989A>C (p.Val663=) n.2053A>C c.2357-4038A>C (n.2357-4038A>C) c.2049A>C (p.Val683=) n.2099A>C n.243A>C c.2301A>C (p.Val767=) c.2202A>C (p.Val734=) c.2616A>C (p.Val872=) | |
16 | g.9768987A= | CA2206695664 | GRIN2A | c.2459T= (p.Val820=) c.1988T= (p.Val663=) n.2052T= c.2357-4039T= (n.2357-4039T=) c.2048T= (p.Val683=) n.2098T= n.242T= c.2300T= (p.Val767=) c.2201T= (p.Val734=) c.2615T= (p.Val872=) | |
16 | g.9768987A>C | CA277546484 | GRIN2A | c.2459T>G (p.Val820Gly) c.1988T>G (p.Val663Gly) n.2052T>G c.2357-4039T>G (n.2357-4039T>G) c.2048T>G (p.Val683Gly) n.2098T>G n.242T>G c.2300T>G (p.Val767Gly) c.2201T>G (p.Val734Gly) c.2615T>G (p.Val872Gly) | dbSNP |
16 | g.9768987A>G | CA394710092 | GRIN2A | c.2459T>C (p.Val820Ala) c.1988T>C (p.Val663Ala) n.2052T>C c.2357-4039T>C (n.2357-4039T>C) c.2048T>C (p.Val683Ala) n.2098T>C n.242T>C c.2300T>C (p.Val767Ala) c.2201T>C (p.Val734Ala) c.2615T>C (p.Val872Ala) | gnomAD v4 |
16 | g.9768987A>T | CA394710091 | GRIN2A | c.2459T>A (p.Val820Glu) c.1988T>A (p.Val663Glu) n.2052T>A c.2357-4039T>A (n.2357-4039T>A) c.2048T>A (p.Val683Glu) n.2098T>A n.242T>A c.2300T>A (p.Val767Glu) c.2201T>A (p.Val734Glu) c.2615T>A (p.Val872Glu) | |
16 | g.9768988C>A | CA394710093 | GRIN2A | c.2458G>T (p.Val820Leu) c.1987G>T (p.Val663Leu) n.2051G>T c.2357-4040G>T (n.2357-4040G>T) c.2047G>T (p.Val683Leu) n.2097G>T n.241G>T c.2299G>T (p.Val767Leu) c.2200G>T (p.Val734Leu) c.2614G>T (p.Val872Leu) | dbSNP |
16 | g.9768988C= | CA2206695665 | GRIN2A | c.2458G= (p.Val820=) c.1987G= (p.Val663=) n.2051G= c.2357-4040G= (n.2357-4040G=) c.2047G= (p.Val683=) n.2097G= n.241G= c.2299G= (p.Val767=) c.2200G= (p.Val734=) c.2614G= (p.Val872=) | |
16 | g.9768988C>G | CA394710094 | GRIN2A | c.2458G>C (p.Val820Leu) c.1987G>C (p.Val663Leu) n.2051G>C c.2357-4040G>C (n.2357-4040G>C) c.2047G>C (p.Val683Leu) n.2097G>C n.241G>C c.2299G>C (p.Val767Leu) c.2200G>C (p.Val734Leu) c.2614G>C (p.Val872Leu) | dbSNP |
16 | g.9768988C>T | CA7896505 | GRIN2A | c.2458G>A (p.Val820Ile) c.1987G>A (p.Val663Ile) n.2051G>A c.2357-4040G>A (n.2357-4040G>A) c.2047G>A (p.Val683Ile) n.2097G>A n.241G>A c.2299G>A (p.Val767Ile) c.2200G>A (p.Val734Ile) c.2614G>A (p.Val872Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
16 | g.9768989G>A | CA277546507 | GRIN2A | c.2457C>T (p.Gly819=) c.1986C>T (p.Gly662=) n.2050C>T c.2357-4041C>T (n.2357-4041C>T) c.2046C>T (p.Gly682=) n.2096C>T n.240C>T c.2298C>T (p.Gly766=) c.2199C>T (p.Gly733=) c.2613C>T (p.Gly871=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.9768989G>C | CA7896506 | GRIN2A | c.2457C>G (p.Gly819=) c.1986C>G (p.Gly662=) n.2050C>G c.2357-4041C>G (n.2357-4041C>G) c.2046C>G (p.Gly682=) n.2096C>G n.240C>G c.2298C>G (p.Gly766=) c.2199C>G (p.Gly733=) c.2613C>G (p.Gly871=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.9768989G= | CA2206695666 | GRIN2A | c.2457C= (p.Gly819=) c.1986C= (p.Gly662=) n.2050C= c.2357-4041C= (n.2357-4041C=) c.2046C= (p.Gly682=) n.2096C= n.240C= c.2298C= (p.Gly766=) c.2199C= (p.Gly733=) c.2613C= (p.Gly871=) | |
16 | g.9768989G>T | CA493693591 | GRIN2A | c.2457C>A (p.Gly819=) c.1986C>A (p.Gly662=) n.2050C>A c.2357-4041C>A (n.2357-4041C>A) c.2046C>A (p.Gly682=) n.2096C>A n.240C>A c.2298C>A (p.Gly766=) c.2199C>A (p.Gly733=) c.2613C>A (p.Gly871=) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.9768990C>A | CA394710096 | GRIN2A | c.2456G>T (p.Gly819Val) c.1985G>T (p.Gly662Val) n.2049G>T c.2357-4042G>T (n.2357-4042G>T) c.2045G>T (p.Gly682Val) n.2095G>T n.239G>T c.2297G>T (p.Gly766Val) c.2198G>T (p.Gly733Val) c.2612G>T (p.Gly871Val) | ClinVar dbSNP |
16 | g.9768990C>G | CA394710095 | GRIN2A | c.2456G>C (p.Gly819Ala) c.1985G>C (p.Gly662Ala) n.2049G>C c.2357-4042G>C (n.2357-4042G>C) c.2045G>C (p.Gly682Ala) n.2095G>C n.239G>C c.2297G>C (p.Gly766Ala) c.2198G>C (p.Gly733Ala) c.2612G>C (p.Gly871Ala) | dbSNP |
16 | g.9768990C>T | CA394710097 | GRIN2A | c.2456G>A (p.Gly819Asp) c.1985G>A (p.Gly662Asp) n.2049G>A c.2357-4042G>A (n.2357-4042G>A) c.2045G>A (p.Gly682Asp) n.2095G>A n.239G>A c.2297G>A (p.Gly766Asp) c.2198G>A (p.Gly733Asp) c.2612G>A (p.Gly871Asp) | dbSNP |
16 | g.9768991C>A | CA394710098 | GRIN2A | c.2455G>T (p.Gly819Cys) c.1984G>T (p.Gly662Cys) n.2048G>T c.2357-4043G>T (n.2357-4043G>T) c.2044G>T (p.Gly682Cys) n.2094G>T n.238G>T c.2296G>T (p.Gly766Cys) c.2197G>T (p.Gly733Cys) c.2611G>T (p.Gly871Cys) | dbSNP |
16 | g.9768991C= | CA2206695667 | GRIN2A | c.2455G= (p.Gly819=) c.1984G= (p.Gly662=) n.2048G= c.2357-4043G= (n.2357-4043G=) c.2044G= (p.Gly682=) n.2094G= n.238G= c.2296G= (p.Gly766=) c.2197G= (p.Gly733=) c.2611G= (p.Gly871=) | |
16 | g.9768991C>G | CA394710099 | GRIN2A | c.2455G>C (p.Gly819Arg) c.1984G>C (p.Gly662Arg) n.2048G>C c.2357-4043G>C (n.2357-4043G>C) c.2044G>C (p.Gly682Arg) n.2094G>C n.238G>C c.2296G>C (p.Gly766Arg) c.2197G>C (p.Gly733Arg) c.2611G>C (p.Gly871Arg) | dbSNP |
16 | g.9768991C>T | CA394710100 | GRIN2A | c.2455G>A (p.Gly819Ser) c.1984G>A (p.Gly662Ser) n.2048G>A c.2357-4043G>A (n.2357-4043G>A) c.2044G>A (p.Gly682Ser) n.2094G>A n.238G>A c.2296G>A (p.Gly766Ser) c.2197G>A (p.Gly733Ser) c.2611G>A (p.Gly871Ser) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.9768992C>A | CA493693600 | GRIN2A | c.2454G>T (p.Ala818=) c.1983G>T (p.Ala661=) n.2047G>T c.2357-4044G>T (n.2357-4044G>T) c.2043G>T (p.Ala681=) n.2093G>T n.237G>T c.2295G>T (p.Ala765=) c.2196G>T (p.Ala732=) c.2610G>T (p.Ala870=) | dbSNP |
16 | g.9768992C= | CA2206695668 | GRIN2A | c.2454G= (p.Ala818=) c.1983G= (p.Ala661=) n.2047G= c.2357-4044G= (n.2357-4044G=) c.2043G= (p.Ala681=) n.2093G= n.237G= c.2295G= (p.Ala765=) c.2196G= (p.Ala732=) c.2610G= (p.Ala870=) | |
16 | g.9768992C>G | CA7896507 | GRIN2A | c.2454G>C (p.Ala818=) c.1983G>C (p.Ala661=) n.2047G>C c.2357-4044G>C (n.2357-4044G>C) c.2043G>C (p.Ala681=) n.2093G>C n.237G>C c.2295G>C (p.Ala765=) c.2196G>C (p.Ala732=) c.2610G>C (p.Ala870=) | dbSNP ExAC |
16 | g.9768992C>T | CA7896508 | GRIN2A | c.2454G>A (p.Ala818=) c.1983G>A (p.Ala661=) n.2047G>A c.2357-4044G>A (n.2357-4044G>A) c.2043G>A (p.Ala681=) n.2093G>A n.237G>A c.2295G>A (p.Ala765=) c.2196G>A (p.Ala732=) c.2610G>A (p.Ala870=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.9768993G>A | CA7896509 | GRIN2A | c.2453C>T (p.Ala818Val) c.1982C>T (p.Ala661Val) n.2046C>T c.2357-4045C>T (n.2357-4045C>T) c.2042C>T (p.Ala681Val) n.2092C>T n.236C>T c.2294C>T (p.Ala765Val) c.2195C>T (p.Ala732Val) c.2609C>T (p.Ala870Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.9768993G>C | CA394710101 | GRIN2A | c.2453C>G (p.Ala818Gly) c.1982C>G (p.Ala661Gly) n.2046C>G c.2357-4045C>G (n.2357-4045C>G) c.2042C>G (p.Ala681Gly) n.2092C>G n.236C>G c.2294C>G (p.Ala765Gly) c.2195C>G (p.Ala732Gly) c.2609C>G (p.Ala870Gly) | dbSNP gnomAD v4 |
16 | g.9768993G= | CA2206695669 | GRIN2A | c.2453C= (p.Ala818=) c.1982C= (p.Ala661=) n.2046C= c.2357-4045C= (n.2357-4045C=) c.2042C= (p.Ala681=) n.2092C= n.236C= c.2294C= (p.Ala765=) c.2195C= (p.Ala732=) c.2609C= (p.Ala870=) | |
16 | g.9768993G>T | CA394710102 | GRIN2A | c.2453C>A (p.Ala818Glu) c.1982C>A (p.Ala661Glu) n.2046C>A c.2357-4045C>A (n.2357-4045C>A) c.2042C>A (p.Ala681Glu) n.2092C>A n.236C>A c.2294C>A (p.Ala765Glu) c.2195C>A (p.Ala732Glu) c.2609C>A (p.Ala870Glu) | ClinVar dbSNP |
16 | g.9768994C>A | CA394710103 | GRIN2A | c.2452G>T (p.Ala818Ser) c.1981G>T (p.Ala661Ser) n.2045G>T c.2357-4046G>T (n.2357-4046G>T) c.2041G>T (p.Ala681Ser) n.2091G>T n.235G>T c.2293G>T (p.Ala765Ser) c.2194G>T (p.Ala732Ser) c.2608G>T (p.Ala870Ser) | dbSNP |
16 | g.9768994C= | CA2206695670 | GRIN2A | c.2452G= (p.Ala818=) c.1981G= (p.Ala661=) n.2045G= c.2357-4046G= (n.2357-4046G=) c.2041G= (p.Ala681=) n.2091G= n.235G= c.2293G= (p.Ala765=) c.2194G= (p.Ala732=) c.2608G= (p.Ala870=) | |
16 | g.9768994C>G | CA394710104 | GRIN2A | c.2452G>C (p.Ala818Pro) c.1981G>C (p.Ala661Pro) n.2045G>C c.2357-4046G>C (n.2357-4046G>C) c.2041G>C (p.Ala681Pro) n.2091G>C n.235G>C c.2293G>C (p.Ala765Pro) c.2194G>C (p.Ala732Pro) c.2608G>C (p.Ala870Pro) | dbSNP |
16 | g.9768994C>T | CA394710105 | GRIN2A | c.2452G>A (p.Ala818Thr) c.1981G>A (p.Ala661Thr) n.2045G>A c.2357-4046G>A (n.2357-4046G>A) c.2041G>A (p.Ala681Thr) n.2091G>A n.235G>A c.2293G>A (p.Ala765Thr) c.2194G>A (p.Ala732Thr) c.2608G>A (p.Ala870Thr) | ClinVar dbSNP COSMIC |
16 | g.9768995del | CA2731724624 | GRIN2A | c.2452del (p.Ala818ArgfsTer?) c.1981del (p.Ala661ArgfsTer?) n.2045del c.2357-4046del (n.2357-4046del) c.2041del (p.Ala681ArgfsTer?) n.2091del n.235del c.2293del (p.Ala765ArgfsTer?) c.2194del (p.Ala732ArgfsTer?) c.2608del (p.Ala870ArgfsTer?) | dbSNP |
16 | g.9768995C>A | CA394710108 | GRIN2A | c.2451G>T (p.Met817Ile) c.1980G>T (p.Met660Ile) n.2044G>T c.2357-4047G>T (n.2357-4047G>T) c.2040G>T (p.Met680Ile) n.2090G>T n.234G>T c.2292G>T (p.Met764Ile) c.2193G>T (p.Met731Ile) c.2607G>T (p.Met869Ile) | COSMIC |
16 | g.9768995C>G | CA394710107 | GRIN2A | c.2451G>C (p.Met817Ile) c.1980G>C (p.Met660Ile) n.2044G>C c.2357-4047G>C (n.2357-4047G>C) c.2040G>C (p.Met680Ile) n.2090G>C n.234G>C c.2292G>C (p.Met764Ile) c.2193G>C (p.Met731Ile) c.2607G>C (p.Met869Ile) | |
16 | g.9768995C>T | CA394710106 | GRIN2A | c.2451G>A (p.Met817Ile) c.1980G>A (p.Met660Ile) n.2044G>A c.2357-4047G>A (n.2357-4047G>A) c.2040G>A (p.Met680Ile) n.2090G>A n.234G>A c.2292G>A (p.Met764Ile) c.2193G>A (p.Met731Ile) c.2607G>A (p.Met869Ile) | dbSNP |
16 | g.9768996A= | CA2206695671 | GRIN2A | c.2450T= (p.Met817=) c.1979T= (p.Met660=) n.2043T= c.2357-4048T= (n.2357-4048T=) c.2039T= (p.Met680=) n.2089T= n.233T= c.2291T= (p.Met764=) c.2192T= (p.Met731=) c.2606T= (p.Met869=) | |
16 | g.9768996A>C | CA16620322 | GRIN2A | c.2450T>G (p.Met817Arg) c.1979T>G (p.Met660Arg) n.2043T>G c.2357-4048T>G (n.2357-4048T>G) c.2039T>G (p.Met680Arg) n.2089T>G n.233T>G c.2291T>G (p.Met764Arg) c.2192T>G (p.Met731Arg) c.2606T>G (p.Met869Arg) | ClinVar dbSNP |
16 | g.9768996A>G | CA394710109 | GRIN2A | c.2450T>C (p.Met817Thr) c.1979T>C (p.Met660Thr) n.2043T>C c.2357-4048T>C (n.2357-4048T>C) c.2039T>C (p.Met680Thr) n.2089T>C n.233T>C c.2291T>C (p.Met764Thr) c.2192T>C (p.Met731Thr) c.2606T>C (p.Met869Thr) | ClinVar dbSNP |
16 | g.9768996A>T | CA394710110 | GRIN2A | c.2450T>A (p.Met817Lys) c.1979T>A (p.Met660Lys) n.2043T>A c.2357-4048T>A (n.2357-4048T>A) c.2039T>A (p.Met680Lys) n.2089T>A n.233T>A c.2291T>A (p.Met764Lys) c.2192T>A (p.Met731Lys) c.2606T>A (p.Met869Lys) | |
16 | g.9768997T>A | CA394710111 | GRIN2A | c.2449A>T (p.Met817Leu) c.1978A>T (p.Met660Leu) n.2042A>T c.2357-4049A>T (n.2357-4049A>T) c.2038A>T (p.Met680Leu) n.2088A>T n.232A>T c.2290A>T (p.Met764Leu) c.2191A>T (p.Met731Leu) c.2605A>T (p.Met869Leu) | |
16 | g.9768997T>C | CA314951 | GRIN2A | c.2449A>G (p.Met817Val) c.1978A>G (p.Met660Val) n.2042A>G c.2357-4049A>G (n.2357-4049A>G) c.2038A>G (p.Met680Val) n.2088A>G n.232A>G c.2290A>G (p.Met764Val) c.2191A>G (p.Met731Val) c.2605A>G (p.Met869Val) | ClinVar dbSNP |
16 | g.9768997T>G | CA394710112 | GRIN2A | c.2449A>C (p.Met817Leu) c.1978A>C (p.Met660Leu) n.2042A>C c.2357-4049A>C (n.2357-4049A>C) c.2038A>C (p.Met680Leu) n.2088A>C n.232A>C c.2290A>C (p.Met764Leu) c.2191A>C (p.Met731Leu) c.2605A>C (p.Met869Leu) | |
16 | g.9768997T= | CA2206695672 | GRIN2A | c.2449A= (p.Met817=) c.1978A= (p.Met660=) n.2042A= c.2357-4049A= (n.2357-4049A=) c.2038A= (p.Met680=) n.2088A= n.232A= c.2290A= (p.Met764=) c.2191A= (p.Met731=) c.2605A= (p.Met869=) | |
16 | g.9768998G>A | CA493693611 | GRIN2A | c.2448C>T (p.Asn816=) c.1977C>T (p.Asn659=) n.2041C>T c.2357-4050C>T (n.2357-4050C>T) c.2037C>T (p.Asn679=) n.2087C>T n.231C>T c.2289C>T (p.Asn763=) c.2190C>T (p.Asn730=) c.2604C>T (p.Asn868=) | gnomAD v4 |
16 | g.9768998G>C | CA394710113 | GRIN2A | c.2448C>G (p.Asn816Lys) c.1977C>G (p.Asn659Lys) n.2041C>G c.2357-4050C>G (n.2357-4050C>G) c.2037C>G (p.Asn679Lys) n.2087C>G n.231C>G c.2289C>G (p.Asn763Lys) c.2190C>G (p.Asn730Lys) c.2604C>G (p.Asn868Lys) | dbSNP |
16 | g.9768998G>T | CA394710114 | GRIN2A | c.2448C>A (p.Asn816Lys) c.1977C>A (p.Asn659Lys) n.2041C>A c.2357-4050C>A (n.2357-4050C>A) c.2037C>A (p.Asn679Lys) n.2087C>A n.231C>A c.2289C>A (p.Asn763Lys) c.2190C>A (p.Asn730Lys) c.2604C>A (p.Asn868Lys) | |
16 | g.9768999T>A | CA394710115 | GRIN2A | c.2447A>T (p.Asn816Ile) c.1976A>T (p.Asn659Ile) n.2040A>T c.2357-4051A>T (n.2357-4051A>T) c.2036A>T (p.Asn679Ile) n.2086A>T n.230A>T c.2288A>T (p.Asn763Ile) c.2189A>T (p.Asn730Ile) c.2603A>T (p.Asn868Ile) | dbSNP |
16 | g.9768999T>C | CA394710116 | GRIN2A | c.2447A>G (p.Asn816Ser) c.1976A>G (p.Asn659Ser) n.2040A>G c.2357-4051A>G (n.2357-4051A>G) c.2036A>G (p.Asn679Ser) n.2086A>G n.230A>G c.2288A>G (p.Asn763Ser) c.2189A>G (p.Asn730Ser) c.2603A>G (p.Asn868Ser) | dbSNP |
16 | g.9768999T>G | CA394710117 | GRIN2A | c.2447A>C (p.Asn816Thr) c.1976A>C (p.Asn659Thr) n.2040A>C c.2357-4051A>C (n.2357-4051A>C) c.2036A>C (p.Asn679Thr) n.2086A>C n.230A>C c.2288A>C (p.Asn763Thr) c.2189A>C (p.Asn730Thr) c.2603A>C (p.Asn868Thr) | dbSNP |
16 | g.9769000T>A | CA394710120 | GRIN2A | c.2446A>T (p.Asn816Tyr) c.1975A>T (p.Asn659Tyr) n.2039A>T c.2357-4052A>T (n.2357-4052A>T) c.2035A>T (p.Asn679Tyr) n.2085A>T n.229A>T c.2287A>T (p.Asn763Tyr) c.2188A>T (p.Asn730Tyr) c.2602A>T (p.Asn868Tyr) | |
16 | g.9769000T>C | CA394710119 | GRIN2A | c.2446A>G (p.Asn816Asp) c.1975A>G (p.Asn659Asp) n.2039A>G c.2357-4052A>G (n.2357-4052A>G) c.2035A>G (p.Asn679Asp) n.2085A>G n.229A>G c.2287A>G (p.Asn763Asp) c.2188A>G (p.Asn730Asp) c.2602A>G (p.Asn868Asp) | |
16 | g.9769000T>G | CA394710118 | GRIN2A | c.2446A>C (p.Asn816His) c.1975A>C (p.Asn659His) n.2039A>C c.2357-4052A>C (n.2357-4052A>C) c.2035A>C (p.Asn679His) n.2085A>C n.229A>C c.2287A>C (p.Asn763His) c.2188A>C (p.Asn730His) c.2602A>C (p.Asn868His) | |
16 | g.9769001G>A | CA493693614 | GRIN2A | c.2445C>T (p.Asp815=) c.1974C>T (p.Asp658=) n.2038C>T c.2357-4053C>T (n.2357-4053C>T) c.2034C>T (p.Asp678=) n.2084C>T n.228C>T c.2286C>T (p.Asp762=) c.2187C>T (p.Asp729=) c.2601C>T (p.Asp867=) | ClinVar dbSNP gnomAD v4 |
16 | g.9769001G>C | CA394710121 | GRIN2A | c.2445C>G (p.Asp815Glu) c.1974C>G (p.Asp658Glu) n.2038C>G c.2357-4053C>G (n.2357-4053C>G) c.2034C>G (p.Asp678Glu) n.2084C>G n.228C>G c.2286C>G (p.Asp762Glu) c.2187C>G (p.Asp729Glu) c.2601C>G (p.Asp867Glu) | dbSNP |
16 | g.9769001G= | CA2206695673 | GRIN2A | c.2445C= (p.Asp815=) c.1974C= (p.Asp658=) n.2038C= c.2357-4053C= (n.2357-4053C=) c.2034C= (p.Asp678=) n.2084C= n.228C= c.2286C= (p.Asp762=) c.2187C= (p.Asp729=) c.2601C= (p.Asp867=) | |
16 | g.9769001G>T | CA7896510 | GRIN2A | c.2445C>A (p.Asp815Glu) c.1974C>A (p.Asp658Glu) n.2038C>A c.2357-4053C>A (n.2357-4053C>A) c.2034C>A (p.Asp678Glu) n.2084C>A n.228C>A c.2286C>A (p.Asp762Glu) c.2187C>A (p.Asp729Glu) c.2601C>A (p.Asp867Glu) | ClinVar dbSNP ExAC |
16 | g.9769002T>A | CA394710122 | GRIN2A | c.2444A>T (p.Asp815Val) c.1973A>T (p.Asp658Val) n.2037A>T c.2357-4054A>T (n.2357-4054A>T) c.2033A>T (p.Asp678Val) n.2083A>T n.227A>T c.2285A>T (p.Asp762Val) c.2186A>T (p.Asp729Val) c.2600A>T (p.Asp867Val) | dbSNP |
16 | g.9769002T>C | CA394710123 | GRIN2A | c.2444A>G (p.Asp815Gly) c.1973A>G (p.Asp658Gly) n.2037A>G c.2357-4054A>G (n.2357-4054A>G) c.2033A>G (p.Asp678Gly) n.2083A>G n.227A>G c.2285A>G (p.Asp762Gly) c.2186A>G (p.Asp729Gly) c.2600A>G (p.Asp867Gly) | |
16 | g.9769002T>G | CA394710124 | GRIN2A | c.2444A>C (p.Asp815Ala) c.1973A>C (p.Asp658Ala) n.2037A>C c.2357-4054A>C (n.2357-4054A>C) c.2033A>C (p.Asp678Ala) n.2083A>C n.227A>C c.2285A>C (p.Asp762Ala) c.2186A>C (p.Asp729Ala) c.2600A>C (p.Asp867Ala) | |
16 | g.9769003C>A | CA394710125 | GRIN2A | c.2443G>T (p.Asp815Tyr) c.1972G>T (p.Asp658Tyr) n.2036G>T c.2357-4055G>T (n.2357-4055G>T) c.2032G>T (p.Asp678Tyr) n.2082G>T n.226G>T c.2284G>T (p.Asp762Tyr) c.2185G>T (p.Asp729Tyr) c.2599G>T (p.Asp867Tyr) | dbSNP COSMIC |
16 | g.9769003C>G | CA394710126 | GRIN2A | c.2443G>C (p.Asp815His) c.1972G>C (p.Asp658His) n.2036G>C c.2357-4055G>C (n.2357-4055G>C) c.2032G>C (p.Asp678His) n.2082G>C n.226G>C c.2284G>C (p.Asp762His) c.2185G>C (p.Asp729His) c.2599G>C (p.Asp867His) | ClinVar dbSNP |
16 | g.9769003C>T | CA394710127 | GRIN2A | c.2443G>A (p.Asp815Asn) c.1972G>A (p.Asp658Asn) n.2036G>A c.2357-4055G>A (n.2357-4055G>A) c.2032G>A (p.Asp678Asn) n.2082G>A n.226G>A c.2284G>A (p.Asp762Asn) c.2185G>A (p.Asp729Asn) c.2599G>A (p.Asp867Asn) | |
16 | g.9769004A= | CA2206695674 | GRIN2A | c.2442T= (p.Ile814=) c.1971T= (p.Ile657=) n.2035T= c.2357-4056T= (n.2357-4056T=) c.2031T= (p.Ile677=) n.2081T= n.225T= c.2283T= (p.Ile761=) c.2184T= (p.Ile728=) c.2598T= (p.Ile866=) | |
16 | g.9769004A>C | CA394710128 | GRIN2A | c.2442T>G (p.Ile814Met) c.1971T>G (p.Ile657Met) n.2035T>G c.2357-4056T>G (n.2357-4056T>G) c.2031T>G (p.Ile677Met) n.2081T>G n.225T>G c.2283T>G (p.Ile761Met) c.2184T>G (p.Ile728Met) c.2598T>G (p.Ile866Met) | |
16 | g.9769004A>G | CA277546538 | GRIN2A | c.2442T>C (p.Ile814=) c.1971T>C (p.Ile657=) n.2035T>C c.2357-4056T>C (n.2357-4056T>C) c.2031T>C (p.Ile677=) n.2081T>C n.225T>C c.2283T>C (p.Ile761=) c.2184T>C (p.Ile728=) c.2598T>C (p.Ile866=) | dbSNP gnomAD v4 |
16 | g.9769004A>T | CA493693618 | GRIN2A | c.2442T>A (p.Ile814=) c.1971T>A (p.Ile657=) n.2035T>A c.2357-4056T>A (n.2357-4056T>A) c.2031T>A (p.Ile677=) n.2081T>A n.225T>A c.2283T>A (p.Ile761=) c.2184T>A (p.Ile728=) c.2598T>A (p.Ile866=) | |
16 | g.9769005A= | CA2206695675 | GRIN2A | c.2441T= (p.Ile814=) c.1970T= (p.Ile657=) n.2034T= c.2357-4057T= (n.2357-4057T=) c.2030T= (p.Ile677=) n.2080T= n.224T= c.2282T= (p.Ile761=) c.2183T= (p.Ile728=) c.2597T= (p.Ile866=) | |
16 | g.9769005A>C | CA394710129 | GRIN2A | c.2441T>G (p.Ile814Ser) c.1970T>G (p.Ile657Ser) n.2034T>G c.2357-4057T>G (n.2357-4057T>G) c.2030T>G (p.Ile677Ser) n.2080T>G n.224T>G c.2282T>G (p.Ile761Ser) c.2183T>G (p.Ile728Ser) c.2597T>G (p.Ile866Ser) | |
16 | g.9769005A>G | CA7896511 | GRIN2A | c.2441T>C (p.Ile814Thr) c.1970T>C (p.Ile657Thr) n.2034T>C c.2357-4057T>C (n.2357-4057T>C) c.2030T>C (p.Ile677Thr) n.2080T>C n.224T>C c.2282T>C (p.Ile761Thr) c.2183T>C (p.Ile728Thr) c.2597T>C (p.Ile866Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.9769005A>T | CA394710130 | GRIN2A | c.2441T>A (p.Ile814Asn) c.1970T>A (p.Ile657Asn) n.2034T>A c.2357-4057T>A (n.2357-4057T>A) c.2030T>A (p.Ile677Asn) n.2080T>A n.224T>A c.2282T>A (p.Ile761Asn) c.2183T>A (p.Ile728Asn) c.2597T>A (p.Ile866Asn) | |
16 | g.9769006T>A | CA394710133 | GRIN2A | c.2440A>T (p.Ile814Phe) c.1969A>T (p.Ile657Phe) n.2033A>T c.2357-4058A>T (n.2357-4058A>T) c.2029A>T (p.Ile677Phe) n.2079A>T n.223A>T c.2281A>T (p.Ile761Phe) c.2182A>T (p.Ile728Phe) c.2596A>T (p.Ile866Phe) | |
16 | g.9769006T>C | CA394710131 | GRIN2A | c.2440A>G (p.Ile814Val) c.1969A>G (p.Ile657Val) n.2033A>G c.2357-4058A>G (n.2357-4058A>G) c.2029A>G (p.Ile677Val) n.2079A>G n.223A>G c.2281A>G (p.Ile761Val) c.2182A>G (p.Ile728Val) c.2596A>G (p.Ile866Val) | |
16 | g.9769006T>G | CA394710132 | GRIN2A | c.2440A>C (p.Ile814Leu) c.1969A>C (p.Ile657Leu) n.2033A>C c.2357-4058A>C (n.2357-4058A>C) c.2029A>C (p.Ile677Leu) n.2079A>C n.223A>C c.2281A>C (p.Ile761Leu) c.2182A>C (p.Ile728Leu) c.2596A>C (p.Ile866Leu) | |
16 | g.9769007G>A | CA493693623 | GRIN2A | c.2439C>T (p.Asp813=) c.1968C>T (p.Asp656=) n.2032C>T c.2357-4059C>T (n.2357-4059C>T) c.2028C>T (p.Asp676=) n.2078C>T n.222C>T c.2280C>T (p.Asp760=) c.2181C>T (p.Asp727=) c.2595C>T (p.Asp865=) | dbSNP |
16 | g.9769007G>C | CA394710134 | GRIN2A | c.2439C>G (p.Asp813Glu) c.1968C>G (p.Asp656Glu) n.2032C>G c.2357-4059C>G (n.2357-4059C>G) c.2028C>G (p.Asp676Glu) n.2078C>G n.222C>G c.2280C>G (p.Asp760Glu) c.2181C>G (p.Asp727Glu) c.2595C>G (p.Asp865Glu) | dbSNP |
16 | g.9769007G>T | CA394710135 | GRIN2A | c.2439C>A (p.Asp813Glu) c.1968C>A (p.Asp656Glu) n.2032C>A c.2357-4059C>A (n.2357-4059C>A) c.2028C>A (p.Asp676Glu) n.2078C>A n.222C>A c.2280C>A (p.Asp760Glu) c.2181C>A (p.Asp727Glu) c.2595C>A (p.Asp865Glu) | |
16 | g.9769008T>A | CA394710136 | GRIN2A | c.2438A>T (p.Asp813Val) c.1967A>T (p.Asp656Val) n.2031A>T c.2357-4060A>T (n.2357-4060A>T) c.2027A>T (p.Asp676Val) n.2077A>T n.221A>T c.2279A>T (p.Asp760Val) c.2180A>T (p.Asp727Val) c.2594A>T (p.Asp865Val) | |
16 | g.9769008T>C | CA394710137 | GRIN2A | c.2438A>G (p.Asp813Gly) c.1967A>G (p.Asp656Gly) n.2031A>G c.2357-4060A>G (n.2357-4060A>G) c.2027A>G (p.Asp676Gly) n.2077A>G n.221A>G c.2279A>G (p.Asp760Gly) c.2180A>G (p.Asp727Gly) c.2594A>G (p.Asp865Gly) | |
16 | g.9769008T>G | CA394710138 | GRIN2A | c.2438A>C (p.Asp813Ala) c.1967A>C (p.Asp656Ala) n.2031A>C c.2357-4060A>C (n.2357-4060A>C) c.2027A>C (p.Asp676Ala) n.2077A>C n.221A>C c.2279A>C (p.Asp760Ala) c.2180A>C (p.Asp727Ala) c.2594A>C (p.Asp865Ala) | |
16 | g.9769009C>A | CA394710139 | GRIN2A | c.2437G>T (p.Asp813Tyr) c.1966G>T (p.Asp656Tyr) n.2030G>T c.2357-4061G>T (n.2357-4061G>T) c.2026G>T (p.Asp676Tyr) n.2076G>T n.220G>T c.2278G>T (p.Asp760Tyr) c.2179G>T (p.Asp727Tyr) c.2593G>T (p.Asp865Tyr) | dbSNP |
16 | g.9769009C>G | CA394710140 | GRIN2A | c.2437G>C (p.Asp813His) c.1966G>C (p.Asp656His) n.2030G>C c.2357-4061G>C (n.2357-4061G>C) c.2026G>C (p.Asp676His) n.2076G>C n.220G>C c.2278G>C (p.Asp760His) c.2179G>C (p.Asp727His) c.2593G>C (p.Asp865His) | dbSNP |
16 | g.9769009C>T | CA394710141 | GRIN2A | c.2437G>A (p.Asp813Asn) c.1966G>A (p.Asp656Asn) n.2030G>A c.2357-4061G>A (n.2357-4061G>A) c.2026G>A (p.Asp676Asn) n.2076G>A n.220G>A c.2278G>A (p.Asp760Asn) c.2179G>A (p.Asp727Asn) c.2593G>A (p.Asp865Asn) | dbSNP |
16 | g.9769010C>A | CA493693625 | GRIN2A | c.2436G>T (p.Leu812=) c.1965G>T (p.Leu655=) n.2029G>T c.2357-4062G>T (n.2357-4062G>T) c.2025G>T (p.Leu675=) n.2075G>T n.219G>T c.2277G>T (p.Leu759=) c.2178G>T (p.Leu726=) c.2592G>T (p.Leu864=) | dbSNP |
16 | g.9769010C>G | CA493693626 | GRIN2A | c.2436G>C (p.Leu812=) c.1965G>C (p.Leu655=) n.2029G>C c.2357-4062G>C (n.2357-4062G>C) c.2025G>C (p.Leu675=) n.2075G>C n.219G>C c.2277G>C (p.Leu759=) c.2178G>C (p.Leu726=) c.2592G>C (p.Leu864=) | dbSNP |
16 | g.9769010C>T | CA493693627 | GRIN2A | c.2436G>A (p.Leu812=) c.1965G>A (p.Leu655=) n.2029G>A c.2357-4062G>A (n.2357-4062G>A) c.2025G>A (p.Leu675=) n.2075G>A n.219G>A c.2277G>A (p.Leu759=) c.2178G>A (p.Leu726=) c.2592G>A (p.Leu864=) | dbSNP |
16 | g.9769011A>C | CA394710142 | GRIN2A | c.2435T>G (p.Leu812Arg) c.1964T>G (p.Leu655Arg) n.2028T>G c.2357-4063T>G (n.2357-4063T>G) c.2024T>G (p.Leu675Arg) n.2074T>G n.218T>G c.2276T>G (p.Leu759Arg) c.2177T>G (p.Leu726Arg) c.2591T>G (p.Leu864Arg) | |
16 | g.9769011A>G | CA394710143 | GRIN2A | c.2435T>C (p.Leu812Pro) c.1964T>C (p.Leu655Pro) n.2028T>C c.2357-4063T>C (n.2357-4063T>C) c.2024T>C (p.Leu675Pro) n.2074T>C n.218T>C c.2276T>C (p.Leu759Pro) c.2177T>C (p.Leu726Pro) c.2591T>C (p.Leu864Pro) | |
16 | g.9769011A>T | CA394710144 | GRIN2A | c.2435T>A (p.Leu812Gln) c.1964T>A (p.Leu655Gln) n.2028T>A c.2357-4063T>A (n.2357-4063T>A) c.2024T>A (p.Leu675Gln) n.2074T>A n.218T>A c.2276T>A (p.Leu759Gln) c.2177T>A (p.Leu726Gln) c.2591T>A (p.Leu864Gln) | |
16 | g.9769012G>A | CA7896512 | GRIN2A | c.2434C>T (p.Leu812=) c.1963C>T (p.Leu655=) n.2027C>T c.2357-4064C>T (n.2357-4064C>T) c.2023C>T (p.Leu675=) n.2073C>T n.217C>T c.2275C>T (p.Leu759=) c.2176C>T (p.Leu726=) c.2590C>T (p.Leu864=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.9769012G>C | CA394710146 | GRIN2A | c.2434C>G (p.Leu812Val) c.1963C>G (p.Leu655Val) n.2027C>G c.2357-4064C>G (n.2357-4064C>G) c.2023C>G (p.Leu675Val) n.2073C>G n.217C>G c.2275C>G (p.Leu759Val) c.2176C>G (p.Leu726Val) c.2590C>G (p.Leu864Val) | |
16 | g.9769012G= | CA2206695676 | GRIN2A | c.2434C= (p.Leu812=) c.1963C= (p.Leu655=) n.2027C= c.2357-4064C= (n.2357-4064C=) c.2023C= (p.Leu675=) n.2073C= n.217C= c.2275C= (p.Leu759=) c.2176C= (p.Leu726=) c.2590C= (p.Leu864=) | |
16 | g.9769012G>T | CA394710145 | GRIN2A | c.2434C>A (p.Leu812Met) c.1963C>A (p.Leu655Met) n.2027C>A c.2357-4064C>A (n.2357-4064C>A) c.2023C>A (p.Leu675Met) n.2073C>A n.217C>A c.2275C>A (p.Leu759Met) c.2176C>A (p.Leu726Met) c.2590C>A (p.Leu864Met) | ClinVar dbSNP |
16 | g.9769013C>A | CA394710148 | GRIN2A | c.2433G>T (p.Gln811His) c.1962G>T (p.Gln654His) n.2026G>T c.2357-4065G>T (n.2357-4065G>T) c.2022G>T (p.Gln674His) n.2072G>T n.216G>T c.2274G>T (p.Gln758His) c.2175G>T (p.Gln725His) c.2589G>T (p.Gln863His) | dbSNP |
16 | g.9769013C>G | CA394710147 | GRIN2A | c.2433G>C (p.Gln811His) c.1962G>C (p.Gln654His) n.2026G>C c.2357-4065G>C (n.2357-4065G>C) c.2022G>C (p.Gln674His) n.2072G>C n.216G>C c.2274G>C (p.Gln758His) c.2175G>C (p.Gln725His) c.2589G>C (p.Gln863His) | |
16 | g.9769013C>T | CA493693628 | GRIN2A | c.2433G>A (p.Gln811=) c.1962G>A (p.Gln654=) n.2026G>A c.2357-4065G>A (n.2357-4065G>A) c.2022G>A (p.Gln674=) n.2072G>A n.216G>A c.2274G>A (p.Gln758=) c.2175G>A (p.Gln725=) c.2589G>A (p.Gln863=) | |
16 | g.9769014T>A | CA394710149 | GRIN2A | c.2432A>T (p.Gln811Leu) c.1961A>T (p.Gln654Leu) n.2025A>T c.2357-4066A>T (n.2357-4066A>T) c.2021A>T (p.Gln674Leu) n.2071A>T n.215A>T c.2273A>T (p.Gln758Leu) c.2174A>T (p.Gln725Leu) c.2588A>T (p.Gln863Leu) | COSMIC |
16 | g.9769014T>C | CA394710150 | GRIN2A | c.2432A>G (p.Gln811Arg) c.1961A>G (p.Gln654Arg) n.2025A>G c.2357-4066A>G (n.2357-4066A>G) c.2021A>G (p.Gln674Arg) n.2071A>G n.215A>G c.2273A>G (p.Gln758Arg) c.2174A>G (p.Gln725Arg) c.2588A>G (p.Gln863Arg) | |
16 | g.9769014T>G | CA394710151 | GRIN2A | c.2432A>C (p.Gln811Pro) c.1961A>C (p.Gln654Pro) n.2025A>C c.2357-4066A>C (n.2357-4066A>C) c.2021A>C (p.Gln674Pro) n.2071A>C n.215A>C c.2273A>C (p.Gln758Pro) c.2174A>C (p.Gln725Pro) c.2588A>C (p.Gln863Pro) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.9769014T= | CA2206695677 | GRIN2A | c.2432A= (p.Gln811=) c.1961A= (p.Gln654=) n.2025A= c.2357-4066A= (n.2357-4066A=) c.2021A= (p.Gln674=) n.2071A= n.215A= c.2273A= (p.Gln758=) c.2174A= (p.Gln725=) c.2588A= (p.Gln863=) | |
16 | g.9769015G>A | CA394710152 | GRIN2A | c.2431C>T (p.Gln811Ter) c.1960C>T (p.Gln654Ter) n.2024C>T c.2357-4067C>T (n.2357-4067C>T) c.2020C>T (p.Gln674Ter) n.2070C>T n.214C>T c.2272C>T (p.Gln758Ter) c.2173C>T (p.Gln725Ter) c.2587C>T (p.Gln863Ter) | dbSNP |
16 | g.9769015G>C | CA394710153 | GRIN2A | c.2431C>G (p.Gln811Glu) c.1960C>G (p.Gln654Glu) n.2024C>G c.2357-4067C>G (n.2357-4067C>G) c.2020C>G (p.Gln674Glu) n.2070C>G n.214C>G c.2272C>G (p.Gln758Glu) c.2173C>G (p.Gln725Glu) c.2587C>G (p.Gln863Glu) | |
16 | g.9769015G>T | CA394710154 | GRIN2A | c.2431C>A (p.Gln811Lys) c.1960C>A (p.Gln654Lys) n.2024C>A c.2357-4067C>A (n.2357-4067C>A) c.2020C>A (p.Gln674Lys) n.2070C>A n.214C>A c.2272C>A (p.Gln758Lys) c.2173C>A (p.Gln725Lys) c.2587C>A (p.Gln863Lys) | |
16 | g.9769016G>A | CA493693632 | GRIN2A | c.2430C>T (p.Ser810=) c.1959C>T (p.Ser653=) n.2023C>T c.2357-4068C>T (n.2357-4068C>T) c.2019C>T (p.Ser673=) n.2069C>T n.213C>T c.2271C>T (p.Ser757=) c.2172C>T (p.Ser724=) c.2586C>T (p.Ser862=) | dbSNP |
16 | g.9769016G>C | CA394710155 | GRIN2A | c.2430C>G (p.Ser810Arg) c.1959C>G (p.Ser653Arg) n.2023C>G c.2357-4068C>G (n.2357-4068C>G) c.2019C>G (p.Ser673Arg) n.2069C>G n.213C>G c.2271C>G (p.Ser757Arg) c.2172C>G (p.Ser724Arg) c.2586C>G (p.Ser862Arg) | dbSNP |
16 | g.9769016G>T | CA394710156 | GRIN2A | c.2430C>A (p.Ser810Arg) c.1959C>A (p.Ser653Arg) n.2023C>A c.2357-4068C>A (n.2357-4068C>A) c.2019C>A (p.Ser673Arg) n.2069C>A n.213C>A c.2271C>A (p.Ser757Arg) c.2172C>A (p.Ser724Arg) c.2586C>A (p.Ser862Arg) | |
16 | g.9769017C>A | CA394710157 | GRIN2A | c.2429G>T (p.Ser810Ile) c.1958G>T (p.Ser653Ile) n.2022G>T c.2357-4069G>T (n.2357-4069G>T) c.2018G>T (p.Ser673Ile) n.2068G>T n.212G>T c.2270G>T (p.Ser757Ile) c.2171G>T (p.Ser724Ile) c.2585G>T (p.Ser862Ile) | dbSNP |
16 | g.9769017C= | CA2206695678 | GRIN2A | c.2429G= (p.Ser810=) c.1958G= (p.Ser653=) n.2022G= c.2357-4069G= (n.2357-4069G=) c.2018G= (p.Ser673=) n.2068G= n.212G= c.2270G= (p.Ser757=) c.2171G= (p.Ser724=) c.2585G= (p.Ser862=) | |
16 | g.9769017C>G | CA394710158 | GRIN2A | c.2429G>C (p.Ser810Thr) c.1958G>C (p.Ser653Thr) n.2022G>C c.2357-4069G>C (n.2357-4069G>C) c.2018G>C (p.Ser673Thr) n.2068G>C n.212G>C c.2270G>C (p.Ser757Thr) c.2171G>C (p.Ser724Thr) c.2585G>C (p.Ser862Thr) | dbSNP |
16 | g.9769017C>T | CA394710159 | GRIN2A | c.2429G>A (p.Ser810Asn) c.1958G>A (p.Ser653Asn) n.2022G>A c.2357-4069G>A (n.2357-4069G>A) c.2018G>A (p.Ser673Asn) n.2068G>A n.212G>A c.2270G>A (p.Ser757Asn) c.2171G>A (p.Ser724Asn) c.2585G>A (p.Ser862Asn) | dbSNP |
16 | g.9769018T>A | CA394710162 | GRIN2A | c.2428A>T (p.Ser810Cys) c.1957A>T (p.Ser653Cys) n.2021A>T c.2357-4070A>T (n.2357-4070A>T) c.2017A>T (p.Ser673Cys) n.2067A>T n.211A>T c.2269A>T (p.Ser757Cys) c.2170A>T (p.Ser724Cys) c.2584A>T (p.Ser862Cys) | |
16 | g.9769018T>C | CA394710160 | GRIN2A | c.2428A>G (p.Ser810Gly) c.1957A>G (p.Ser653Gly) n.2021A>G c.2357-4070A>G (n.2357-4070A>G) c.2017A>G (p.Ser673Gly) n.2067A>G n.211A>G c.2269A>G (p.Ser757Gly) c.2170A>G (p.Ser724Gly) c.2584A>G (p.Ser862Gly) | |
16 | g.9769018T>G | CA394710161 | GRIN2A | c.2428A>C (p.Ser810Arg) c.1957A>C (p.Ser653Arg) n.2021A>C c.2357-4070A>C (n.2357-4070A>C) c.2017A>C (p.Ser673Arg) n.2067A>C n.211A>C c.2269A>C (p.Ser757Arg) c.2170A>C (p.Ser724Arg) c.2584A>C (p.Ser862Arg) | |
16 | g.9769019G>A | CA493693633 | GRIN2A | c.2427C>T (p.Ser809=) c.1956C>T (p.Ser652=) n.2020C>T c.2357-4071C>T (n.2357-4071C>T) c.2016C>T (p.Ser672=) n.2066C>T n.210C>T c.2268C>T (p.Ser756=) c.2169C>T (p.Ser723=) c.2583C>T (p.Ser861=) | |
16 | g.9769019G>C | CA394710163 | GRIN2A | c.2427C>G (p.Ser809Arg) c.1956C>G (p.Ser652Arg) n.2020C>G c.2357-4071C>G (n.2357-4071C>G) c.2016C>G (p.Ser672Arg) n.2066C>G n.210C>G c.2268C>G (p.Ser756Arg) c.2169C>G (p.Ser723Arg) c.2583C>G (p.Ser861Arg) | |
16 | g.9769019G= | CA2206695679 | GRIN2A | c.2427C= (p.Ser809=) c.1956C= (p.Ser652=) n.2020C= c.2357-4071C= (n.2357-4071C=) c.2016C= (p.Ser672=) n.2066C= n.210C= c.2268C= (p.Ser756=) c.2169C= (p.Ser723=) c.2583C= (p.Ser861=) | |
16 | g.9769019G>T | CA16620323 | GRIN2A | c.2427C>A (p.Ser809Arg) c.1956C>A (p.Ser652Arg) n.2020C>A c.2357-4071C>A (n.2357-4071C>A) c.2016C>A (p.Ser672Arg) n.2066C>A n.210C>A c.2268C>A (p.Ser756Arg) c.2169C>A (p.Ser723Arg) c.2583C>A (p.Ser861Arg) | ClinVar dbSNP |