UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.13569843C>A | CA383997979 | GRIN2B | c.2346G>T (p.Gln782His) n.606G>T c.69+38760G>T (n.69+38760G>T) c.132G>T (p.Gln44His) | |
| 12 | g.13569843C= | CA2017440436 | GRIN2B | c.2346G= (p.Gln782=) n.606G= c.69+38760G= (n.69+38760G=) c.132G= (p.Gln44=) | |
| 12 | g.13569843C>G | CA383997980 | GRIN2B | c.2346G>C (p.Gln782His) n.606G>C c.69+38760G>C (n.69+38760G>C) c.132G>C (p.Gln44His) | |
| 12 | g.13569843C>T | CA478703807 | GRIN2B | c.2346G>A (p.Gln782=) n.606G>A c.69+38760G>A (n.69+38760G>A) c.132G>A (p.Gln44=) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.13569844T>A | CA383997981 | GRIN2B | c.2345A>T (p.Gln782Leu) n.605A>T c.69+38759A>T (n.69+38759A>T) c.131A>T (p.Gln44Leu) | |
| 12 | g.13569844T>C | CA383997982 | GRIN2B | c.2345A>G (p.Gln782Arg) n.605A>G c.69+38759A>G (n.69+38759A>G) c.131A>G (p.Gln44Arg) | |
| 12 | g.13569844T>G | CA383997983 | GRIN2B | c.2345A>C (p.Gln782Pro) n.605A>C c.69+38759A>C (n.69+38759A>C) c.131A>C (p.Gln44Pro) | |
| 12 | g.13569845G>A | CA383997984 | GRIN2B | c.2344C>T (p.Gln782Ter) n.604C>T c.69+38758C>T (n.69+38758C>T) c.130C>T (p.Gln44Ter) | dbSNP gnomAD v4 |
| 12 | g.13569845G>C | CA383997985 | GRIN2B | c.2344C>G (p.Gln782Glu) n.604C>G c.69+38758C>G (n.69+38758C>G) c.130C>G (p.Gln44Glu) | |
| 12 | g.13569845G= | CA2017440437 | GRIN2B | c.2344C= (p.Gln782=) n.604C= c.69+38758C= (n.69+38758C=) c.130C= (p.Gln44=) | |
| 12 | g.13569845G>T | CA383997986 | GRIN2B | c.2344C>A (p.Gln782Lys) n.604C>A c.69+38758C>A (n.69+38758C>A) c.130C>A (p.Gln44Lys) | gnomAD v4 |
| 12 | g.13569846C>A | CA478703810 | GRIN2B | c.2343G>T (p.Leu781=) n.603G>T c.69+38757G>T (n.69+38757G>T) c.129G>T (p.Leu43=) | |
| 12 | g.13569846C>G | CA478703811 | GRIN2B | c.2343G>C (p.Leu781=) n.603G>C c.69+38757G>C (n.69+38757G>C) c.129G>C (p.Leu43=) | |
| 12 | g.13569846C>T | CA478703812 | GRIN2B | c.2343G>A (p.Leu781=) n.603G>A c.69+38757G>A (n.69+38757G>A) c.129G>A (p.Leu43=) | gnomAD v4 |
| 12 | g.13569847A>C | CA383997987 | GRIN2B | c.2342T>G (p.Leu781Arg) n.602T>G c.69+38756T>G (n.69+38756T>G) c.128T>G (p.Leu43Arg) | |
| 12 | g.13569847A>G | CA383997989 | GRIN2B | c.2342T>C (p.Leu781Pro) n.602T>C c.69+38756T>C (n.69+38756T>C) c.128T>C (p.Leu43Pro) | gnomAD v4 |
| 12 | g.13569847A>T | CA383997988 | GRIN2B | c.2342T>A (p.Leu781Gln) n.602T>A c.69+38756T>A (n.69+38756T>A) c.128T>A (p.Leu43Gln) | |
| 12 | g.13569848G>A | CA478703815 | GRIN2B | c.2341C>T (p.Leu781=) n.601C>T c.69+38755C>T (n.69+38755C>T) c.127C>T (p.Leu43=) | gnomAD v4 |
| 12 | g.13569848G>C | CA16619494 | GRIN2B | c.2341C>G (p.Leu781Val) n.601C>G c.69+38755C>G (n.69+38755C>G) c.127C>G (p.Leu43Val) | ClinVar dbSNP |
| 12 | g.13569848G= | CA2017440438 | GRIN2B | c.2341C= (p.Leu781=) n.601C= c.69+38755C= (n.69+38755C=) c.127C= (p.Leu43=) | |
| 12 | g.13569848G>T | CA383997990 | GRIN2B | c.2341C>A (p.Leu781Met) n.601C>A c.69+38755C>A (n.69+38755C>A) c.127C>A (p.Leu43Met) | ClinVar dbSNP |
| 12 | g.13569849G>A | CA478703820 | GRIN2B | c.2340C>T (p.Ile780=) n.600C>T c.69+38754C>T (n.69+38754C>T) c.126C>T (p.Ile42=) | gnomAD v4 |
| 12 | g.13569849G>C | CA383997991 | GRIN2B | c.2340C>G (p.Ile780Met) n.600C>G c.69+38754C>G (n.69+38754C>G) c.126C>G (p.Ile42Met) | |
| 12 | g.13569849G>T | CA478703819 | GRIN2B | c.2340C>A (p.Ile780=) n.600C>A c.69+38754C>A (n.69+38754C>A) c.126C>A (p.Ile42=) | |
| 12 | g.13569850A>C | CA383997993 | GRIN2B | c.2339T>G (p.Ile780Ser) n.599T>G c.69+38753T>G (n.69+38753T>G) c.125T>G (p.Ile42Ser) | |
| 12 | g.13569850A>G | CA383997992 | GRIN2B | c.2339T>C (p.Ile780Thr) n.599T>C c.69+38753T>C (n.69+38753T>C) c.125T>C (p.Ile42Thr) | |
| 12 | g.13569850A>T | CA383997994 | GRIN2B | c.2339T>A (p.Ile780Asn) n.599T>A c.69+38753T>A (n.69+38753T>A) c.125T>A (p.Ile42Asn) | |
| 12 | g.13569851T>A | CA383997995 | GRIN2B | c.2338A>T (p.Ile780Phe) n.598A>T c.69+38752A>T (n.69+38752A>T) c.124A>T (p.Ile42Phe) | |
| 12 | g.13569851T>C | CA383997996 | GRIN2B | c.2338A>G (p.Ile780Val) n.598A>G c.69+38752A>G (n.69+38752A>G) c.124A>G (p.Ile42Val) | |
| 12 | g.13569851T>G | CA233136793 | GRIN2B | c.2338A>C (p.Ile780Leu) n.598A>C c.69+38752A>C (n.69+38752A>C) c.124A>C (p.Ile42Leu) | dbSNP |
| 12 | g.13569851T= | CA2017440439 | GRIN2B | c.2338A= (p.Ile780=) n.598A= c.69+38752A= (n.69+38752A=) c.124A= (p.Ile42=) | |
| 12 | g.13569852A>C | CA478703822 | GRIN2B | c.2337T>G (p.Ala779=) n.597T>G c.69+38751T>G (n.69+38751T>G) c.123T>G (p.Ala41=) | |
| 12 | g.13569852A>G | CA478703823 | GRIN2B | c.2337T>C (p.Ala779=) n.597T>C c.69+38751T>C (n.69+38751T>C) c.123T>C (p.Ala41=) | |
| 12 | g.13569852A>T | CA478703824 | GRIN2B | c.2337T>A (p.Ala779=) n.597T>A c.69+38751T>A (n.69+38751T>A) c.123T>A (p.Ala41=) | |
| 12 | g.13569853G>A | CA383997997 | GRIN2B | c.2336C>T (p.Ala779Val) n.596C>T c.69+38750C>T (n.69+38750C>T) c.122C>T (p.Ala41Val) | |
| 12 | g.13569853G>C | CA383997998 | GRIN2B | c.2336C>G (p.Ala779Gly) n.596C>G c.69+38750C>G (n.69+38750C>G) c.122C>G (p.Ala41Gly) | |
| 12 | g.13569853G>T | CA383997999 | GRIN2B | c.2336C>A (p.Ala779Asp) n.596C>A c.69+38750C>A (n.69+38750C>A) c.122C>A (p.Ala41Asp) | |
| 12 | g.13569854C>A | CA6461082 | GRIN2B | c.2335G>T (p.Ala779Ser) n.595G>T c.69+38749G>T (n.69+38749G>T) c.121G>T (p.Ala41Ser) | dbSNP ExAC gnomAD v4 |
| 12 | g.13569854C= | CA2017440440 | GRIN2B | c.2335G= (p.Ala779=) n.595G= c.69+38749G= (n.69+38749G=) c.121G= (p.Ala41=) | |
| 12 | g.13569854C>G | CA383998000 | GRIN2B | c.2335G>C (p.Ala779Pro) n.595G>C c.69+38749G>C (n.69+38749G>C) c.121G>C (p.Ala41Pro) | |
| 12 | g.13569854C>T | CA383998001 | GRIN2B | c.2335G>A (p.Ala779Thr) n.595G>A c.69+38749G>A (n.69+38749G>A) c.121G>A (p.Ala41Thr) | gnomAD v4 |
| 12 | g.13569855A>C | CA478703826 | GRIN2B | c.2334T>G (p.Leu778=) n.594T>G c.69+38748T>G (n.69+38748T>G) c.120T>G (p.Leu40=) | |
| 12 | g.13569855A>G | CA478703827 | GRIN2B | c.2334T>C (p.Leu778=) n.594T>C c.69+38748T>C (n.69+38748T>C) c.120T>C (p.Leu40=) | gnomAD v4 |
| 12 | g.13569855A>T | CA478703829 | GRIN2B | c.2334T>A (p.Leu778=) n.594T>A c.69+38748T>A (n.69+38748T>A) c.120T>A (p.Leu40=) | |
| 12 | g.13569856A>C | CA383998002 | GRIN2B | c.2333T>G (p.Leu778Arg) n.593T>G c.69+38747T>G (n.69+38747T>G) c.119T>G (p.Leu40Arg) | |
| 12 | g.13569856A>G | CA383998003 | GRIN2B | c.2333T>C (p.Leu778Pro) n.593T>C c.69+38747T>C (n.69+38747T>C) c.119T>C (p.Leu40Pro) | |
| 12 | g.13569856A>T | CA383998004 | GRIN2B | c.2333T>A (p.Leu778His) n.593T>A c.69+38747T>A (n.69+38747T>A) c.119T>A (p.Leu40His) | |
| 12 | g.13569857G>A | CA383998005 | GRIN2B | c.2332C>T (p.Leu778Phe) n.592C>T c.69+38746C>T (n.69+38746C>T) c.118C>T (p.Leu40Phe) | |
| 12 | g.13569857G>C | CA383998006 | GRIN2B | c.2332C>G (p.Leu778Val) n.592C>G c.69+38746C>G (n.69+38746C>G) c.118C>G (p.Leu40Val) | |
| 12 | g.13569857G>T | CA383998007 | GRIN2B | c.2332C>A (p.Leu778Ile) n.592C>A c.69+38746C>A (n.69+38746C>A) c.118C>A (p.Leu40Ile) | |
| 12 | g.13569858G>A | CA6461083 | GRIN2B | c.2331C>T (p.Asp777=) n.591C>T c.69+38745C>T (n.69+38745C>T) c.117C>T (p.Asp39=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.13569858G>C | CA383998009 | GRIN2B | c.2331C>G (p.Asp777Glu) n.591C>G c.69+38745C>G (n.69+38745C>G) c.117C>G (p.Asp39Glu) | |
| 12 | g.13569858G= | CA2017440441 | GRIN2B | c.2331C= (p.Asp777=) n.591C= c.69+38745C= (n.69+38745C=) c.117C= (p.Asp39=) | |
| 12 | g.13569858G>T | CA383998008 | GRIN2B | c.2331C>A (p.Asp777Glu) n.591C>A c.69+38745C>A (n.69+38745C>A) c.117C>A (p.Asp39Glu) | |
| 12 | g.13569859T>A | CA383998010 | GRIN2B | c.2330A>T (p.Asp777Val) n.590A>T c.69+38744A>T (n.69+38744A>T) c.116A>T (p.Asp39Val) | |
| 12 | g.13569859T>C | CA383998011 | GRIN2B | c.2330A>G (p.Asp777Gly) n.590A>G c.69+38744A>G (n.69+38744A>G) c.116A>G (p.Asp39Gly) | |
| 12 | g.13569859T>G | CA383998012 | GRIN2B | c.2330A>C (p.Asp777Ala) n.590A>C c.69+38744A>C (n.69+38744A>C) c.116A>C (p.Asp39Ala) | |
| 12 | g.13569860C>A | CA383998013 | GRIN2B | c.2329G>T (p.Asp777Tyr) n.589G>T c.69+38743G>T (n.69+38743G>T) c.115G>T (p.Asp39Tyr) | |
| 12 | g.13569860C>G | CA383998014 | GRIN2B | c.2329G>C (p.Asp777His) n.589G>C c.69+38743G>C (n.69+38743G>C) c.115G>C (p.Asp39His) | |
| 12 | g.13569860C>T | CA383998015 | GRIN2B | c.2329G>A (p.Asp777Asn) n.589G>A c.69+38743G>A (n.69+38743G>A) c.115G>A (p.Asp39Asn) | |
| 12 | g.13569861C>A | CA478703838 | GRIN2B | c.2328G>T (p.Val776=) n.588G>T c.69+38742G>T (n.69+38742G>T) c.114G>T (p.Val38=) | |
| 12 | g.13569861C>G | CA478703836 | GRIN2B | c.2328G>C (p.Val776=) n.588G>C c.69+38742G>C (n.69+38742G>C) c.114G>C (p.Val38=) | |
| 12 | g.13569861C>T | CA478703837 | GRIN2B | c.2328G>A (p.Val776=) n.588G>A c.69+38742G>A (n.69+38742G>A) c.114G>A (p.Val38=) | gnomAD v4 |
| 12 | g.13569862A>C | CA383998016 | GRIN2B | c.2327T>G (p.Val776Gly) n.587T>G c.69+38741T>G (n.69+38741T>G) c.113T>G (p.Val38Gly) | |
| 12 | g.13569862A>G | CA383998017 | GRIN2B | c.2327T>C (p.Val776Ala) n.587T>C c.69+38741T>C (n.69+38741T>C) c.113T>C (p.Val38Ala) | |
| 12 | g.13569862A>T | CA383998018 | GRIN2B | c.2327T>A (p.Val776Glu) n.587T>A c.69+38741T>A (n.69+38741T>A) c.113T>A (p.Val38Glu) | |
| 12 | g.13569863C>A | CA383998020 | GRIN2B | c.2326G>T (p.Val776Leu) n.586G>T c.69+38740G>T (n.69+38740G>T) c.112G>T (p.Val38Leu) | |
| 12 | g.13569863C>G | CA383998021 | GRIN2B | c.2326G>C (p.Val776Leu) n.586G>C c.69+38740G>C (n.69+38740G>C) c.112G>C (p.Val38Leu) | |
| 12 | g.13569863C>T | CA383998019 | GRIN2B | c.2326G>A (p.Val776Met) n.586G>A c.69+38740G>A (n.69+38740G>A) c.112G>A (p.Val38Met) | COSMIC |
| 12 | g.13569864C>A | CA383998022 | GRIN2B | c.2325G>T (p.Gln775His) n.585G>T c.69+38739G>T (n.69+38739G>T) c.111G>T (p.Gln37His) | |
| 12 | g.13569864C= | CA2017440442 | GRIN2B | c.2325G= (p.Gln775=) n.585G= c.69+38739G= (n.69+38739G=) c.111G= (p.Gln37=) | |
| 12 | g.13569864C>G | CA6461084 | GRIN2B | c.2325G>C (p.Gln775His) n.585G>C c.69+38739G>C (n.69+38739G>C) c.111G>C (p.Gln37His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.13569864C>T | CA478703839 | GRIN2B | c.2325G>A (p.Gln775=) n.585G>A c.69+38739G>A (n.69+38739G>A) c.111G>A (p.Gln37=) | |
| 12 | g.13569865T>A | CA383998023 | GRIN2B | c.2324A>T (p.Gln775Leu) n.584A>T c.69+38738A>T (n.69+38738A>T) c.110A>T (p.Gln37Leu) | |
| 12 | g.13569865T>C | CA383998024 | GRIN2B | c.2324A>G (p.Gln775Arg) n.584A>G c.69+38738A>G (n.69+38738A>G) c.110A>G (p.Gln37Arg) | gnomAD v4 |
| 12 | g.13569865T>G | CA6461085 | GRIN2B | c.2324A>C (p.Gln775Pro) n.584A>C c.69+38738A>C (n.69+38738A>C) c.110A>C (p.Gln37Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.13569865T= | CA2017440443 | GRIN2B | c.2324A= (p.Gln775=) n.584A= c.69+38738A= (n.69+38738A=) c.110A= (p.Gln37=) | |
| 12 | g.13569866G>A | CA383998027 | GRIN2B | c.2323C>T (p.Gln775Ter) n.583C>T c.69+38737C>T (n.69+38737C>T) c.109C>T (p.Gln37Ter) | dbSNP |
| 12 | g.13569866G>C | CA383998026 | GRIN2B | c.2323C>G (p.Gln775Glu) n.583C>G c.69+38737C>G (n.69+38737C>G) c.109C>G (p.Gln37Glu) | |
| 12 | g.13569866G= | CA2017440444 | GRIN2B | c.2323C= (p.Gln775=) n.583C= c.69+38737C= (n.69+38737C=) c.109C= (p.Gln37=) | |
| 12 | g.13569866G>T | CA383998025 | GRIN2B | c.2323C>A (p.Gln775Lys) n.583C>A c.69+38737C>A (n.69+38737C>A) c.109C>A (p.Gln37Lys) | |
| 12 | g.13569867G>A | CA478703840 | GRIN2B | c.2322C>T (p.Arg774=) n.582C>T c.69+38736C>T (n.69+38736C>T) c.108C>T (p.Arg36=) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.13569867G>C | CA478703841 | GRIN2B | c.2322C>G (p.Arg774=) n.582C>G c.69+38736C>G (n.69+38736C>G) c.108C>G (p.Arg36=) | |
| 12 | g.13569867G= | CA2017440445 | GRIN2B | c.2322C= (p.Arg774=) n.582C= c.69+38736C= (n.69+38736C=) c.108C= (p.Arg36=) | |
| 12 | g.13569867G>T | CA478703842 | GRIN2B | c.2322C>A (p.Arg774=) n.582C>A c.69+38736C>A (n.69+38736C>A) c.108C>A (p.Arg36=) | |
| 12 | g.13569868C>A | CA383998028 | GRIN2B | c.2321G>T (p.Arg774Leu) n.581G>T c.69+38735G>T (n.69+38735G>T) c.107G>T (p.Arg36Leu) | gnomAD v4 |
| 12 | g.13569868C>G | CA383998029 | GRIN2B | c.2321G>C (p.Arg774Pro) n.581G>C c.69+38735G>C (n.69+38735G>C) c.107G>C (p.Arg36Pro) | |
| 12 | g.13569868C>T | CA383998030 | GRIN2B | c.2321G>A (p.Arg774His) n.581G>A c.69+38735G>A (n.69+38735G>A) c.107G>A (p.Arg36His) | ClinVar gnomAD v4 |
| 12 | g.13569869G>A | CA383998031 | GRIN2B | c.2320C>T (p.Arg774Cys) n.580C>T c.69+38734C>T (n.69+38734C>T) c.106C>T (p.Arg36Cys) | ClinVar dbSNP |
| 12 | g.13569869G>C | CA383998032 | GRIN2B | c.2320C>G (p.Arg774Gly) n.580C>G c.69+38734C>G (n.69+38734C>G) c.106C>G (p.Arg36Gly) | |
| 12 | g.13569869G>T | CA383998033 | GRIN2B | c.2320C>A (p.Arg774Ser) n.580C>A c.69+38734C>A (n.69+38734C>A) c.106C>A (p.Arg36Ser) | |
| 12 | g.13569870C>A | CA383998034 | GRIN2B | c.2319G>T (p.Lys773Asn) n.579G>T c.69+38733G>T (n.69+38733G>T) c.105G>T (p.Lys35Asn) | |
| 12 | g.13569870C= | CA2017440446 | GRIN2B | c.2319G= (p.Lys773=) n.579G= c.69+38733G= (n.69+38733G=) c.105G= (p.Lys35=) | |
| 12 | g.13569870C>G | CA383998035 | GRIN2B | c.2319G>C (p.Lys773Asn) n.579G>C c.69+38733G>C (n.69+38733G>C) c.105G>C (p.Lys35Asn) | |
| 12 | g.13569870C>T | CA6461086 | GRIN2B | c.2319G>A (p.Lys773=) n.579G>A c.69+38733G>A (n.69+38733G>A) c.105G>A (p.Lys35=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.13569871T>A | CA383998036 | GRIN2B | c.2318A>T (p.Lys773Met) n.578A>T c.69+38732A>T (n.69+38732A>T) c.104A>T (p.Lys35Met) | |
| 12 | g.13569871T>C | CA383998037 | GRIN2B | c.2318A>G (p.Lys773Arg) n.578A>G c.69+38732A>G (n.69+38732A>G) c.104A>G (p.Lys35Arg) | |
| 12 | g.13569871T>G | CA383998038 | GRIN2B | c.2318A>C (p.Lys773Thr) n.578A>C c.69+38732A>C (n.69+38732A>C) c.104A>C (p.Lys35Thr) | |
| 12 | g.13569872T>A | CA383998039 | GRIN2B | c.2317A>T (p.Lys773Ter) n.577A>T c.69+38731A>T (n.69+38731A>T) c.103A>T (p.Lys35Ter) | dbSNP |
| 12 | g.13569872T>C | CA383998040 | GRIN2B | c.2317A>G (p.Lys773Glu) n.577A>G c.69+38731A>G (n.69+38731A>G) c.103A>G (p.Lys35Glu) | |
| 12 | g.13569872T>G | CA383998041 | GRIN2B | c.2317A>C (p.Lys773Gln) n.577A>C c.69+38731A>C (n.69+38731A>C) c.103A>C (p.Lys35Gln) | |
| 12 | g.13569872T= | CA2017440447 | GRIN2B | c.2317A= (p.Lys773=) n.577A= c.69+38731A= (n.69+38731A=) c.103A= (p.Lys35=) | |
| 12 | g.13569873C>A | CA383998042 | GRIN2B | c.2316G>T (p.Trp772Cys) n.576G>T c.69+38730G>T (n.69+38730G>T) c.102G>T (p.Trp34Cys) | |
| 12 | g.13569873C= | CA2017440448 | GRIN2B | c.2316G= (p.Trp772=) n.576G= c.69+38730G= (n.69+38730G=) c.102G= (p.Trp34=) | |
| 12 | g.13569873C>G | CA383998043 | GRIN2B | c.2316G>C (p.Trp772Cys) n.576G>C c.69+38730G>C (n.69+38730G>C) c.102G>C (p.Trp34Cys) | |
| 12 | g.13569873C>T | CA383998044 | GRIN2B | c.2316G>A (p.Trp772Ter) n.576G>A c.69+38730G>A (n.69+38730G>A) c.102G>A (p.Trp34Ter) | dbSNP |
| 12 | g.13569874C>A | CA383998045 | GRIN2B | c.2315G>T (p.Trp772Leu) n.575G>T c.69+38729G>T (n.69+38729G>T) c.101G>T (p.Trp34Leu) | |
| 12 | g.13569874C= | CA2017440449 | GRIN2B | c.2315G= (p.Trp772=) n.575G= c.69+38729G= (n.69+38729G=) c.101G= (p.Trp34=) | |
| 12 | g.13569874C>G | CA383998046 | GRIN2B | c.2315G>C (p.Trp772Ser) n.575G>C c.69+38729G>C (n.69+38729G>C) c.101G>C (p.Trp34Ser) | |
| 12 | g.13569874C>T | CA383998047 | GRIN2B | c.2315G>A (p.Trp772Ter) n.575G>A c.69+38729G>A (n.69+38729G>A) c.101G>A (p.Trp34Ter) | dbSNP |
| 12 | g.13569875A>C | CA383998050 | GRIN2B | c.2314T>G (p.Trp772Gly) n.574T>G c.69+38728T>G (n.69+38728T>G) c.100T>G (p.Trp34Gly) | |
| 12 | g.13569875A>G | CA383998049 | GRIN2B | c.2314T>C (p.Trp772Arg) n.574T>C c.69+38728T>C (n.69+38728T>C) c.100T>C (p.Trp34Arg) | |
| 12 | g.13569875A>T | CA383998048 | GRIN2B | c.2314T>A (p.Trp772Arg) n.574T>A c.69+38728T>A (n.69+38728T>A) c.100T>A (p.Trp34Arg) | |
| 12 | g.13569876C>A | CA478703848 | GRIN2B | c.2313G>T (p.Gly771=) n.573G>T c.69+38727G>T (n.69+38727G>T) c.99G>T (p.Gly33=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.13569876C= | CA2017440450 | GRIN2B | c.2313G= (p.Gly771=) n.573G= c.69+38727G= (n.69+38727G=) c.99G= (p.Gly33=) | |
| 12 | g.13569876C>G | CA478703849 | GRIN2B | c.2313G>C (p.Gly771=) n.573G>C c.69+38727G>C (n.69+38727G>C) c.99G>C (p.Gly33=) | |
| 12 | g.13569876C>T | CA225827 | GRIN2B | c.2313G>A (p.Gly771=) n.573G>A c.69+38727G>A (n.69+38727G>A) c.99G>A (p.Gly33=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.13569877C>A | CA383998051 | GRIN2B | c.2312G>T (p.Gly771Val) n.572G>T c.69+38726G>T (n.69+38726G>T) c.98G>T (p.Gly33Val) | |
| 12 | g.13569877C>G | CA383998052 | GRIN2B | c.2312G>C (p.Gly771Ala) n.572G>C c.69+38726G>C (n.69+38726G>C) c.98G>C (p.Gly33Ala) | |
| 12 | g.13569877C>T | CA383998053 | GRIN2B | c.2312G>A (p.Gly771Glu) n.572G>A c.69+38726G>A (n.69+38726G>A) c.98G>A (p.Gly33Glu) | |
| 12 | g.13569878C>A | CA383998054 | GRIN2B | c.2311G>T (p.Gly771Trp) n.571G>T c.69+38725G>T (n.69+38725G>T) c.97G>T (p.Gly33Trp) | gnomAD v4 |
| 12 | g.13569878C>G | CA383998055 | GRIN2B | c.2311G>C (p.Gly771Arg) n.571G>C c.69+38725G>C (n.69+38725G>C) c.97G>C (p.Gly33Arg) | ClinVar |
| 12 | g.13569878C>T | CA383998056 | GRIN2B | c.2311G>A (p.Gly771Arg) n.571G>A c.69+38725G>A (n.69+38725G>A) c.97G>A (p.Gly33Arg) | |
| 12 | g.13569879A= | CA2017440451 | GRIN2B | c.2310T= (p.Ser770=) n.570T= c.69+38724T= (n.69+38724T=) c.96T= (p.Ser32=) | |
| 12 | g.13569879A>C | CA478703851 | GRIN2B | c.2310T>G (p.Ser770=) n.570T>G c.69+38724T>G (n.69+38724T>G) c.96T>G (p.Ser32=) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.13569879A>G | CA478703852 | GRIN2B | c.2310T>C (p.Ser770=) n.570T>C c.69+38724T>C (n.69+38724T>C) c.96T>C (p.Ser32=) | |
| 12 | g.13569879A>T | CA478703853 | GRIN2B | c.2310T>A (p.Ser770=) n.570T>A c.69+38724T>A (n.69+38724T>A) c.96T>A (p.Ser32=) | |
| 12 | g.13569880G>A | CA383998059 | GRIN2B | c.2309C>T (p.Ser770Phe) n.569C>T c.69+38723C>T (n.69+38723C>T) c.95C>T (p.Ser32Phe) | COSMIC |
| 12 | g.13569880G>C | CA383998057 | GRIN2B | c.2309C>G (p.Ser770Cys) n.569C>G c.69+38723C>G (n.69+38723C>G) c.95C>G (p.Ser32Cys) | |
| 12 | g.13569880G>T | CA383998058 | GRIN2B | c.2309C>A (p.Ser770Tyr) n.569C>A c.69+38723C>A (n.69+38723C>A) c.95C>A (p.Ser32Tyr) | COSMIC |
| 12 | g.13569881A>C | CA383998060 | GRIN2B | c.2308T>G (p.Ser770Ala) n.568T>G c.69+38722T>G (n.69+38722T>G) c.94T>G (p.Ser32Ala) | ClinVar dbSNP |
| 12 | g.13569881A>G | CA383998061 | GRIN2B | c.2308T>C (p.Ser770Pro) n.568T>C c.69+38722T>C (n.69+38722T>C) c.94T>C (p.Ser32Pro) | |
| 12 | g.13569881A>T | CA383998062 | GRIN2B | c.2308T>A (p.Ser770Thr) n.568T>A c.69+38722T>A (n.69+38722T>A) c.94T>A (p.Ser32Thr) | |
| 12 | g.13569882A>C | CA383998063 | GRIN2B | c.2307T>G (p.Asp769Glu) n.567T>G c.69+38721T>G (n.69+38721T>G) c.93T>G (p.Asp31Glu) | |
| 12 | g.13569882A>G | CA478703855 | GRIN2B | c.2307T>C (p.Asp769=) n.567T>C c.69+38721T>C (n.69+38721T>C) c.93T>C (p.Asp31=) | |
| 12 | g.13569882A>T | CA383998064 | GRIN2B | c.2307T>A (p.Asp769Glu) n.567T>A c.69+38721T>A (n.69+38721T>A) c.93T>A (p.Asp31Glu) | |
| 12 | g.13569883T>A | CA383998067 | GRIN2B | c.2306A>T (p.Asp769Val) n.566A>T c.69+38720A>T (n.69+38720A>T) c.92A>T (p.Asp31Val) | |
| 12 | g.13569883T>C | CA383998065 | GRIN2B | c.2306A>G (p.Asp769Gly) n.566A>G c.69+38720A>G (n.69+38720A>G) c.92A>G (p.Asp31Gly) | |
| 12 | g.13569883T>G | CA383998066 | GRIN2B | c.2306A>C (p.Asp769Ala) n.566A>C c.69+38720A>C (n.69+38720A>C) c.92A>C (p.Asp31Ala) | |
| 12 | g.13569884C>A | CA383998068 | GRIN2B | c.2305G>T (p.Asp769Tyr) n.565G>T c.69+38719G>T (n.69+38719G>T) c.91G>T (p.Asp31Tyr) | |
| 12 | g.13569884C>G | CA383998069 | GRIN2B | c.2305G>C (p.Asp769His) n.565G>C c.69+38719G>C (n.69+38719G>C) c.91G>C (p.Asp31His) | |
| 12 | g.13569884C>T | CA383998070 | GRIN2B | c.2305G>A (p.Asp769Asn) n.565G>A c.69+38719G>A (n.69+38719G>A) c.91G>A (p.Asp31Asn) | COSMIC |
| 12 | g.13569885T>A | CA383998071 | GRIN2B | c.2304A>T (p.Lys768Asn) n.564A>T c.69+38718A>T (n.69+38718A>T) c.90A>T (p.Lys30Asn) | |
| 12 | g.13569885T>C | CA478703856 | GRIN2B | c.2304A>G (p.Lys768=) n.564A>G c.69+38718A>G (n.69+38718A>G) c.90A>G (p.Lys30=) | |
| 12 | g.13569885T>G | CA383998072 | GRIN2B | c.2304A>C (p.Lys768Asn) n.564A>C c.69+38718A>C (n.69+38718A>C) c.90A>C (p.Lys30Asn) | |
| 12 | g.13569889del | CA2617749475 | GRIN2B | c.2304del (p.Asp769IlefsTer?) n.564del c.69+38718del (n.69+38718del) c.90del (p.Asp31IlefsTer?) | gnomAD v4 |
| 12 | g.13569886T>A | CA383998073 | GRIN2B | c.2303A>T (p.Lys768Ile) n.563A>T c.69+38717A>T (n.69+38717A>T) c.89A>T (p.Lys30Ile) | |
| 12 | g.13569886T>C | CA383998074 | GRIN2B | c.2303A>G (p.Lys768Arg) n.563A>G c.69+38717A>G (n.69+38717A>G) c.89A>G (p.Lys30Arg) | gnomAD v4 |
| 12 | g.13569886T>G | CA383998075 | GRIN2B | c.2303A>C (p.Lys768Thr) n.563A>C c.69+38717A>C (n.69+38717A>C) c.89A>C (p.Lys30Thr) | |
| 12 | g.13569887T>A | CA383998076 | GRIN2B | c.2302A>T (p.Lys768Ter) n.562A>T c.69+38716A>T (n.69+38716A>T) c.88A>T (p.Lys30Ter) | dbSNP |
| 12 | g.13569887T>C | CA383998077 | GRIN2B | c.2302A>G (p.Lys768Glu) n.562A>G c.69+38716A>G (n.69+38716A>G) c.88A>G (p.Lys30Glu) | |
| 12 | g.13569887T>G | CA383998078 | GRIN2B | c.2302A>C (p.Lys768Gln) n.562A>C c.69+38716A>C (n.69+38716A>C) c.88A>C (p.Lys30Gln) | |
| 12 | g.13569887T= | CA2017440452 | GRIN2B | c.2302A= (p.Lys768=) n.562A= c.69+38716A= (n.69+38716A=) c.88A= (p.Lys30=) | |
| 12 | g.13569888T>A | CA383998079 | GRIN2B | c.2301A>T (p.Gln767His) n.561A>T c.69+38715A>T (n.69+38715A>T) c.87A>T (p.Gln29His) | |
| 12 | g.13569888T>C | CA478703860 | GRIN2B | c.2301A>G (p.Gln767=) n.561A>G c.69+38715A>G (n.69+38715A>G) c.87A>G (p.Gln29=) | ClinVar gnomAD v4 |
| 12 | g.13569888T>G | CA383998080 | GRIN2B | c.2301A>C (p.Gln767His) n.561A>C c.69+38715A>C (n.69+38715A>C) c.87A>C (p.Gln29His) | |
| 12 | g.13569889T>A | CA383998081 | GRIN2B | c.2300A>T (p.Gln767Leu) n.560A>T c.69+38714A>T (n.69+38714A>T) c.86A>T (p.Gln29Leu) | |
| 12 | g.13569889T>C | CA383998083 | GRIN2B | c.2300A>G (p.Gln767Arg) n.560A>G c.69+38714A>G (n.69+38714A>G) c.86A>G (p.Gln29Arg) | |
| 12 | g.13569889T>G | CA383998082 | GRIN2B | c.2300A>C (p.Gln767Pro) n.560A>C c.69+38714A>C (n.69+38714A>C) c.86A>C (p.Gln29Pro) | |
| 12 | g.13569890G>A | CA383998084 | GRIN2B | c.2299C>T (p.Gln767Ter) n.559C>T c.69+38713C>T (n.69+38713C>T) c.85C>T (p.Gln29Ter) | dbSNP |
| 12 | g.13569890G>C | CA383998085 | GRIN2B | c.2299C>G (p.Gln767Glu) n.559C>G c.69+38713C>G (n.69+38713C>G) c.85C>G (p.Gln29Glu) | |
| 12 | g.13569890G= | CA2017440453 | GRIN2B | c.2299C= (p.Gln767=) n.559C= c.69+38713C= (n.69+38713C=) c.85C= (p.Gln29=) | |
| 12 | g.13569890G>T | CA383998086 | GRIN2B | c.2299C>A (p.Gln767Lys) n.559C>A c.69+38713C>A (n.69+38713C>A) c.85C>A (p.Gln29Lys) | |
| 12 | g.13569891G>A | CA478703861 | GRIN2B | c.2298C>T (p.Ile766=) n.558C>T c.69+38712C>T (n.69+38712C>T) c.84C>T (p.Ile28=) | dbSNP gnomAD v2 |
| 12 | g.13569891G>C | CA383998087 | GRIN2B | c.2298C>G (p.Ile766Met) n.558C>G c.69+38712C>G (n.69+38712C>G) c.84C>G (p.Ile28Met) | |
| 12 | g.13569891G= | CA2017440454 | GRIN2B | c.2298C= (p.Ile766=) n.558C= c.69+38712C= (n.69+38712C=) c.84C= (p.Ile28=) | |
| 12 | g.13569891G>T | CA478703862 | GRIN2B | c.2298C>A (p.Ile766=) n.558C>A c.69+38712C>A (n.69+38712C>A) c.84C>A (p.Ile28=) | gnomAD v4 |
| 12 | g.13569892A>C | CA383998088 | GRIN2B | c.2297T>G (p.Ile766Ser) n.557T>G c.69+38711T>G (n.69+38711T>G) c.83T>G (p.Ile28Ser) | |
| 12 | g.13569892A>G | CA383998089 | GRIN2B | c.2297T>C (p.Ile766Thr) n.557T>C c.69+38711T>C (n.69+38711T>C) c.83T>C (p.Ile28Thr) | |
| 12 | g.13569892A>T | CA383998090 | GRIN2B | c.2297T>A (p.Ile766Asn) n.557T>A c.69+38711T>A (n.69+38711T>A) c.83T>A (p.Ile28Asn) | COSMIC |
| 12 | g.13569893T>A | CA383998091 | GRIN2B | c.2296A>T (p.Ile766Phe) n.556A>T c.69+38710A>T (n.69+38710A>T) c.82A>T (p.Ile28Phe) | |
| 12 | g.13569893T>C | CA383998092 | GRIN2B | c.2296A>G (p.Ile766Val) n.556A>G c.69+38710A>G (n.69+38710A>G) c.82A>G (p.Ile28Val) | |
| 12 | g.13569893T>G | CA383998093 | GRIN2B | c.2296A>C (p.Ile766Leu) n.556A>C c.69+38710A>C (n.69+38710A>C) c.82A>C (p.Ile28Leu) | |
| 12 | g.13569894G>A | CA6461087 | GRIN2B | c.2295C>T (p.Ala765=) n.555C>T c.69+38709C>T (n.69+38709C>T) c.81C>T (p.Ala27=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.13569894G>C | CA478703863 | GRIN2B | c.2295C>G (p.Ala765=) n.555C>G c.69+38709C>G (n.69+38709C>G) c.81C>G (p.Ala27=) | |
| 12 | g.13569894G= | CA2017440455 | GRIN2B | c.2295C= (p.Ala765=) n.555C= c.69+38709C= (n.69+38709C=) c.81C= (p.Ala27=) | |
| 12 | g.13569894G>T | CA478703864 | GRIN2B | c.2295C>A (p.Ala765=) n.555C>A c.69+38709C>A (n.69+38709C>A) c.81C>A (p.Ala27=) | |
| 12 | g.13569895G>A | CA383998096 | GRIN2B | c.2294C>T (p.Ala765Val) n.554C>T c.69+38708C>T (n.69+38708C>T) c.80C>T (p.Ala27Val) | gnomAD v4 |
| 12 | g.13569895G>C | CA383998095 | GRIN2B | c.2294C>G (p.Ala765Gly) n.554C>G c.69+38708C>G (n.69+38708C>G) c.80C>G (p.Ala27Gly) | |
| 12 | g.13569895G>T | CA383998094 | GRIN2B | c.2294C>A (p.Ala765Asp) n.554C>A c.69+38708C>A (n.69+38708C>A) c.80C>A (p.Ala27Asp) | |
| 12 | g.13569896C>A | CA383998097 | GRIN2B | c.2293G>T (p.Ala765Ser) n.553G>T c.69+38707G>T (n.69+38707G>T) c.79G>T (p.Ala27Ser) | |
| 12 | g.13569896C= | CA2017440456 | GRIN2B | c.2293G= (p.Ala765=) n.553G= c.69+38707G= (n.69+38707G=) c.79G= (p.Ala27=) | |
| 12 | g.13569896C>G | CA383998098 | GRIN2B | c.2293G>C (p.Ala765Pro) n.553G>C c.69+38707G>C (n.69+38707G>C) c.79G>C (p.Ala27Pro) | |
| 12 | g.13569896C>T | CA383998099 | GRIN2B | c.2293G>A (p.Ala765Thr) n.553G>A c.69+38707G>A (n.69+38707G>A) c.79G>A (p.Ala27Thr) | dbSNP |
| 12 | g.13569897A>C | CA383998100 | GRIN2B | c.2292T>G (p.Ile764Met) n.552T>G c.69+38706T>G (n.69+38706T>G) c.78T>G (p.Ile26Met) | |
| 12 | g.13569897A>G | CA478703866 | GRIN2B | c.2292T>C (p.Ile764=) n.552T>C c.69+38706T>C (n.69+38706T>C) c.78T>C (p.Ile26=) | |
| 12 | g.13569897A>T | CA478703867 | GRIN2B | c.2292T>A (p.Ile764=) n.552T>A c.69+38706T>A (n.69+38706T>A) c.78T>A (p.Ile26=) | |
| 12 | g.13569898A= | CA2017440457 | GRIN2B | c.2291T= (p.Ile764=) n.551T= c.69+38705T= (n.69+38705T=) c.77T= (p.Ile26=) | |
| 12 | g.13569898A>C | CA383998101 | GRIN2B | c.2291T>G (p.Ile764Ser) n.551T>G c.69+38705T>G (n.69+38705T>G) c.77T>G (p.Ile26Ser) | |
| 12 | g.13569898A>G | CA383998102 | GRIN2B | c.2291T>C (p.Ile764Thr) n.551T>C c.69+38705T>C (n.69+38705T>C) c.77T>C (p.Ile26Thr) | dbSNP |
| 12 | g.13569898A>T | CA383998103 | GRIN2B | c.2291T>A (p.Ile764Asn) n.551T>A c.69+38705T>A (n.69+38705T>A) c.77T>A (p.Ile26Asn) | |
| 12 | g.13569899T>A | CA383998104 | GRIN2B | c.2290A>T (p.Ile764Phe) n.550A>T c.69+38704A>T (n.69+38704A>T) c.76A>T (p.Ile26Phe) | |
| 12 | g.13569899T>C | CA383998105 | GRIN2B | c.2290A>G (p.Ile764Val) n.550A>G c.69+38704A>G (n.69+38704A>G) c.76A>G (p.Ile26Val) | |
| 12 | g.13569899T>G | CA383998106 | GRIN2B | c.2290A>C (p.Ile764Leu) n.550A>C c.69+38704A>C (n.69+38704A>C) c.76A>C (p.Ile26Leu) | |
| 12 | g.13569900G>A | CA478703868 | GRIN2B | c.2289C>T (p.Gly763=) n.549C>T c.69+38703C>T (n.69+38703C>T) c.75C>T (p.Gly25=) | |
| 12 | g.13569900G>C | CA478703869 | GRIN2B | c.2289C>G (p.Gly763=) n.549C>G c.69+38703C>G (n.69+38703C>G) c.75C>G (p.Gly25=) | |
| 12 | g.13569900G>T | CA478703870 | GRIN2B | c.2289C>A (p.Gly763=) n.549C>A c.69+38703C>A (n.69+38703C>A) c.75C>A (p.Gly25=) | |
| 12 | g.13569901C>A | CA383998107 | GRIN2B | c.2288G>T (p.Gly763Val) n.548G>T c.69+38702G>T (n.69+38702G>T) c.74G>T (p.Gly25Val) | COSMIC |
| 12 | g.13569901C>G | CA383998108 | GRIN2B | c.2288G>C (p.Gly763Ala) n.548G>C c.69+38702G>C (n.69+38702G>C) c.74G>C (p.Gly25Ala) | |
| 12 | g.13569901C>T | CA383998109 | GRIN2B | c.2288G>A (p.Gly763Asp) n.548G>A c.69+38702G>A (n.69+38702G>A) c.74G>A (p.Gly25Asp) | |
| 12 | g.13569902C>A | CA383998111 | GRIN2B | c.2287G>T (p.Gly763Cys) n.547G>T c.69+38701G>T (n.69+38701G>T) c.73G>T (p.Gly25Cys) | |
| 12 | g.13569902C>G | CA383998112 | GRIN2B | c.2287G>C (p.Gly763Arg) n.547G>C c.69+38701G>C (n.69+38701G>C) c.73G>C (p.Gly25Arg) | |
| 12 | g.13569902C>T | CA383998110 | GRIN2B | c.2287G>A (p.Gly763Ser) n.547G>A c.69+38701G>A (n.69+38701G>A) c.73G>A (p.Gly25Ser) | |
| 12 | g.13569903A= | CA2017440458 | GRIN2B | c.2286T= (p.Tyr762=) n.546T= c.69+38700T= (n.69+38700T=) c.72T= (p.Tyr24=) | |
| 12 | g.13569903A>C | CA383998113 | GRIN2B | c.2286T>G (p.Tyr762Ter) n.546T>G c.69+38700T>G (n.69+38700T>G) c.72T>G (p.Tyr24Ter) | |
| 12 | g.13569903A>G | CA478703874 | GRIN2B | c.2286T>C (p.Tyr762=) n.546T>C c.69+38700T>C (n.69+38700T>C) c.72T>C (p.Tyr24=) | dbSNP gnomAD v4 |
| 12 | g.13569903A>T | CA383998114 | GRIN2B | c.2286T>A (p.Tyr762Ter) n.546T>A c.69+38700T>A (n.69+38700T>A) c.72T>A (p.Tyr24Ter) | |
| 12 | g.13569904T>A | CA383998115 | GRIN2B | c.2285A>T (p.Tyr762Phe) n.545A>T c.69+38699A>T (n.69+38699A>T) c.71A>T (p.Tyr24Phe) | |
| 12 | g.13569904T>C | CA383998117 | GRIN2B | c.2285A>G (p.Tyr762Cys) n.545A>G c.69+38699A>G (n.69+38699A>G) c.71A>G (p.Tyr24Cys) | |
| 12 | g.13569904T>G | CA383998116 | GRIN2B | c.2285A>C (p.Tyr762Ser) n.545A>C c.69+38699A>C (n.69+38699A>C) c.71A>C (p.Tyr24Ser) | |
| 12 | g.13569905A>C | CA383998118 | GRIN2B | c.2284T>G (p.Tyr762Asp) n.544T>G c.69+38698T>G (n.69+38698T>G) c.70T>G (p.Tyr24Asp) | |
| 12 | g.13569905A>G | CA383998119 | GRIN2B | c.2284T>C (p.Tyr762His) n.544T>C c.69+38698T>C (n.69+38698T>C) c.70T>C (p.Tyr24His) | |
| 12 | g.13569905A>T | CA383998120 | GRIN2B | c.2284T>A (p.Tyr762Asn) n.544T>A c.69+38698T>A (n.69+38698T>A) c.70T>A (p.Tyr24Asn) | |
| 12 | g.13569908_13569917del | CA912973834 | GRIN2B | c.2275_2284del (p.Ser759MetfsTer?) n.535_544del c.69+38689_69+38698del (n.69+38689_69+38698del) c.61_70del (p.Ser21MetfsTer?) | |
| 12 | g.13569906G>A | CA6461088 | GRIN2B | c.2283C>T (p.Gly761=) n.543C>T c.69+38697C>T (n.69+38697C>T) c.69C>T (p.Gly23=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.13569906G>C | CA478703877 | GRIN2B | c.2283C>G (p.Gly761=) n.543C>G c.69+38697C>G (n.69+38697C>G) c.69C>G (p.Gly23=) | |
| 12 | g.13569906G= | CA2017440459 | GRIN2B | c.2283C= (p.Gly761=) n.543C= c.69+38697C= (n.69+38697C=) c.69C= (p.Gly23=) | |
| 12 | g.13569906G>T | CA478703875 | GRIN2B | c.2283C>A (p.Gly761=) n.543C>A c.69+38697C>A (n.69+38697C>A) c.69C>A (p.Gly23=) | gnomAD v4 |
| 12 | g.13569907C>A | CA383998121 | GRIN2B | c.2282G>T (p.Gly761Val) n.542G>T c.69+38696G>T (n.69+38696G>T) c.68G>T (p.Gly23Val) | COSMIC |
| 12 | g.13569907C>G | CA383998122 | GRIN2B | c.2282G>C (p.Gly761Ala) n.542G>C c.69+38696G>C (n.69+38696G>C) c.68G>C (p.Gly23Ala) | |
| 12 | g.13569907C>T | CA383998123 | GRIN2B | c.2282G>A (p.Gly761Asp) n.542G>A c.69+38696G>A (n.69+38696G>A) c.68G>A (p.Gly23Asp) | |
| 12 | g.13569907_13569916delinsCCAGTGGAAG | CA2017440460 | GRIN2B | c.2273_2282delinsCTTCCACTGG (p.Ala758=) n.533_542delinsCTTCCACTGG c.69+38687_69+38696delinsCTTCCACTGG (n.69+38687_69+38696delinsCTTCCACTGG) c.59_68delinsCTTCCACTGG (p.Ala20=) | |
| 12 | g.13569908C>A | CA383998124 | GRIN2B | c.2281G>T (p.Gly761Cys) n.541G>T c.69+38695G>T (n.69+38695G>T) c.67G>T (p.Gly23Cys) | |
| 12 | g.13569908C>G | CA383998125 | GRIN2B | c.2281G>C (p.Gly761Arg) n.541G>C c.69+38695G>C (n.69+38695G>C) c.67G>C (p.Gly23Arg) | |
| 12 | g.13569908C>T | CA383998126 | GRIN2B | c.2281G>A (p.Gly761Ser) n.541G>A c.69+38695G>A (n.69+38695G>A) c.67G>A (p.Gly23Ser) | |
| 12 | g.13569910_13569918del | CA658821172 | GRIN2B | c.2273_2281del (p.Ala758_Thr760del) n.533_541del c.69+38687_69+38695del (n.69+38687_69+38695del) c.59_67del (p.Ala20_Thr22del) | ClinVar dbSNP |
| 12 | g.13569909A>C | CA478703881 | GRIN2B | c.2280T>G (p.Thr760=) n.540T>G c.69+38694T>G (n.69+38694T>G) c.66T>G (p.Thr22=) | |
| 12 | g.13569909A>G | CA478703879 | GRIN2B | c.2280T>C (p.Thr760=) n.540T>C c.69+38694T>C (n.69+38694T>C) c.66T>C (p.Thr22=) | |
| 12 | g.13569909A>T | CA478703880 | GRIN2B | c.2280T>A (p.Thr760=) n.540T>A c.69+38694T>A (n.69+38694T>A) c.66T>A (p.Thr22=) | |
| 12 | g.13569910G>A | CA383998127 | GRIN2B | c.2279C>T (p.Thr760Ile) n.539C>T c.69+38693C>T (n.69+38693C>T) c.65C>T (p.Thr22Ile) | |
| 12 | g.13569910G>C | CA383998128 | GRIN2B | c.2279C>G (p.Thr760Ser) n.539C>G c.69+38693C>G (n.69+38693C>G) c.65C>G (p.Thr22Ser) | |
| 12 | g.13569910G>T | CA383998129 | GRIN2B | c.2279C>A (p.Thr760Asn) n.539C>A c.69+38693C>A (n.69+38693C>A) c.65C>A (p.Thr22Asn) | |
| 12 | g.13569911T>A | CA383998130 | GRIN2B | c.2278A>T (p.Thr760Ser) n.538A>T c.69+38692A>T (n.69+38692A>T) c.64A>T (p.Thr22Ser) | |
| 12 | g.13569911T>C | CA383998132 | GRIN2B | c.2278A>G (p.Thr760Ala) n.538A>G c.69+38692A>G (n.69+38692A>G) c.64A>G (p.Thr22Ala) | |
| 12 | g.13569911T>G | CA383998131 | GRIN2B | c.2278A>C (p.Thr760Pro) n.538A>C c.69+38692A>C (n.69+38692A>C) c.64A>C (p.Thr22Pro) | |
| 12 | g.13569912G>A | CA478703883 | GRIN2B | c.2277C>T (p.Ser759=) n.537C>T c.69+38691C>T (n.69+38691C>T) c.63C>T (p.Ser21=) | gnomAD v4 |
| 12 | g.13569912G>C | CA478703884 | GRIN2B | c.2277C>G (p.Ser759=) n.537C>G c.69+38691C>G (n.69+38691C>G) c.63C>G (p.Ser21=) | |
| 12 | g.13569912G>T | CA478703885 | GRIN2B | c.2277C>A (p.Ser759=) n.537C>A c.69+38691C>A (n.69+38691C>A) c.63C>A (p.Ser21=) | gnomAD v4 |
| 12 | g.13569913dup | CA2741231571 | GRIN2B | c.2277dup (p.Thr760HisfsTer?) n.537dup c.69+38691dup (n.69+38691dup) c.63dup (p.Thr22HisfsTer?) | |
| 12 | g.13569913G>A | CA383998133 | GRIN2B | c.2276C>T (p.Ser759Phe) n.536C>T c.69+38690C>T (n.69+38690C>T) c.62C>T (p.Ser21Phe) | |
| 12 | g.13569913G>C | CA383998134 | GRIN2B | c.2276C>G (p.Ser759Cys) n.536C>G c.69+38690C>G (n.69+38690C>G) c.62C>G (p.Ser21Cys) | |
| 12 | g.13569913G>T | CA383998135 | GRIN2B | c.2276C>A (p.Ser759Tyr) n.536C>A c.69+38690C>A (n.69+38690C>A) c.62C>A (p.Ser21Tyr) | |
| 12 | g.13569914A>C | CA383998136 | GRIN2B | c.2275T>G (p.Ser759Ala) n.535T>G c.69+38689T>G (n.69+38689T>G) c.61T>G (p.Ser21Ala) | |
| 12 | g.13569914A>G | CA383998137 | GRIN2B | c.2275T>C (p.Ser759Pro) n.535T>C c.69+38689T>C (n.69+38689T>C) c.61T>C (p.Ser21Pro) | |
| 12 | g.13569914A>T | CA383998138 | GRIN2B | c.2275T>A (p.Ser759Thr) n.535T>A c.69+38689T>A (n.69+38689T>A) c.61T>A (p.Ser21Thr) | |
| 12 | g.13569915A>C | CA478703886 | GRIN2B | c.2274T>G (p.Ala758=) n.534T>G c.69+38688T>G (n.69+38688T>G) c.60T>G (p.Ala20=) | |
| 12 | g.13569915A>G | CA478703887 | GRIN2B | c.2274T>C (p.Ala758=) n.534T>C c.69+38688T>C (n.69+38688T>C) c.60T>C (p.Ala20=) | |
| 12 | g.13569915A>T | CA478703888 | GRIN2B | c.2274T>A (p.Ala758=) n.534T>A c.69+38688T>A (n.69+38688T>A) c.60T>A (p.Ala20=) | |
| 12 | g.13569916G>A | CA383998139 | GRIN2B | c.2273C>T (p.Ala758Val) n.533C>T c.69+38687C>T (n.69+38687C>T) c.59C>T (p.Ala20Val) | gnomAD v4 |
| 12 | g.13569916G>C | CA383998140 | GRIN2B | c.2273C>G (p.Ala758Gly) n.533C>G c.69+38687C>G (n.69+38687C>G) c.59C>G (p.Ala20Gly) | |
| 12 | g.13569916G>T | CA383998141 | GRIN2B | c.2273C>A (p.Ala758Asp) n.533C>A c.69+38687C>A (n.69+38687C>A) c.59C>A (p.Ala20Asp) | |
| 12 | g.13569917C>A | CA383998144 | GRIN2B | c.2272G>T (p.Ala758Ser) n.532G>T c.69+38686G>T (n.69+38686G>T) c.58G>T (p.Ala20Ser) | |
| 12 | g.13569917C>G | CA383998143 | GRIN2B | c.2272G>C (p.Ala758Pro) n.532G>C c.69+38686G>C (n.69+38686G>C) c.58G>C (p.Ala20Pro) | |
| 12 | g.13569917C>T | CA383998142 | GRIN2B | c.2272G>A (p.Ala758Thr) n.532G>A c.69+38686G>A (n.69+38686G>A) c.58G>A (p.Ala20Thr) | |
| 12 | g.13569917_13569920del | CA2741231572 | GRIN2B | c.2269_2272del (p.Phe757LeufsTer?) n.529_532del c.69+38683_69+38686del (n.69+38683_69+38686del) c.55_58del (p.Phe19LeufsTer?) | |
| 12 | g.13569918A>C | CA383998145 | GRIN2B | c.2271T>G (p.Phe757Leu) n.531T>G c.69+38685T>G (n.69+38685T>G) c.57T>G (p.Phe19Leu) | |
| 12 | g.13569918A>G | CA478703892 | GRIN2B | c.2271T>C (p.Phe757=) n.531T>C c.69+38685T>C (n.69+38685T>C) c.57T>C (p.Phe19=) | |
| 12 | g.13569918A>T | CA383998146 | GRIN2B | c.2271T>A (p.Phe757Leu) n.531T>A c.69+38685T>A (n.69+38685T>A) c.57T>A (p.Phe19Leu) | |
| 12 | g.13569919A>C | CA383998147 | GRIN2B | c.2270T>G (p.Phe757Cys) n.530T>G c.69+38684T>G (n.69+38684T>G) c.56T>G (p.Phe19Cys) | |
| 12 | g.13569919A>G | CA383998148 | GRIN2B | c.2270T>C (p.Phe757Ser) n.530T>C c.69+38684T>C (n.69+38684T>C) c.56T>C (p.Phe19Ser) | |
| 12 | g.13569919A>T | CA383998149 | GRIN2B | c.2270T>A (p.Phe757Tyr) n.530T>A c.69+38684T>A (n.69+38684T>A) c.56T>A (p.Phe19Tyr) | |
| 12 | g.13569920A>C | CA383998150 | GRIN2B | c.2269T>G (p.Phe757Val) n.529T>G c.69+38683T>G (n.69+38683T>G) c.55T>G (p.Phe19Val) | |
| 12 | g.13569920A>G | CA383998151 | GRIN2B | c.2269T>C (p.Phe757Leu) n.529T>C c.69+38683T>C (n.69+38683T>C) c.55T>C (p.Phe19Leu) | |
| 12 | g.13569920A>T | CA383998152 | GRIN2B | c.2269T>A (p.Phe757Ile) n.529T>A c.69+38683T>A (n.69+38683T>A) c.55T>A (p.Phe19Ile) | |
| 12 | g.13569921G>A | CA478703894 | GRIN2B | c.2268C>T (p.Val756=) n.528C>T c.69+38682C>T (n.69+38682C>T) c.54C>T (p.Val18=) | |
| 12 | g.13569921G>C | CA478703896 | GRIN2B | c.2268C>G (p.Val756=) n.528C>G c.69+38682C>G (n.69+38682C>G) c.54C>G (p.Val18=) | |
| 12 | g.13569921G>T | CA478703897 | GRIN2B | c.2268C>A (p.Val756=) n.528C>A c.69+38682C>A (n.69+38682C>A) c.54C>A (p.Val18=) | gnomAD v4 |
| 12 | g.13569922A= | CA2017440461 | GRIN2B | c.2267T= (p.Val756=) n.527T= c.69+38681T= (n.69+38681T=) c.53T= (p.Val18=) | |
| 12 | g.13569922A>C | CA383998153 | GRIN2B | c.2267T>G (p.Val756Gly) n.527T>G c.69+38681T>G (n.69+38681T>G) c.53T>G (p.Val18Gly) | dbSNP |
| 12 | g.13569922A>G | CA383998154 | GRIN2B | c.2267T>C (p.Val756Ala) n.527T>C c.69+38681T>C (n.69+38681T>C) c.53T>C (p.Val18Ala) | |
| 12 | g.13569922A>T | CA383998155 | GRIN2B | c.2267T>A (p.Val756Asp) n.527T>A c.69+38681T>A (n.69+38681T>A) c.53T>A (p.Val18Asp) | |
| 12 | g.13569923C>A | CA383998156 | GRIN2B | c.2266G>T (p.Val756Phe) n.526G>T c.69+38680G>T (n.69+38680G>T) c.52G>T (p.Val18Phe) | |
| 12 | g.13569923C>G | CA383998157 | GRIN2B | c.2266G>C (p.Val756Leu) n.526G>C c.69+38680G>C (n.69+38680G>C) c.52G>C (p.Val18Leu) | |
| 12 | g.13569923C>T | CA383998158 | GRIN2B | c.2266G>A (p.Val756Ile) n.526G>A c.69+38680G>A (n.69+38680G>A) c.52G>A (p.Val18Ile) | |
| 12 | g.13569923_13569924insTTTG | CA2741231573 | GRIN2B | c.2265_2266insCAAA (p.Val756GlnfsTer?) n.525_526insCAAA c.69+38679_69+38680insCAAA (n.69+38679_69+38680insCAAA) c.51_52insCAAA (p.Val18GlnfsTer?) | |
| 12 | g.13569924C>A | CA383998159 | GRIN2B | c.2265G>T (p.Lys755Asn) n.525G>T c.69+38679G>T (n.69+38679G>T) c.51G>T (p.Lys17Asn) | |
| 12 | g.13569924C>G | CA383998160 | GRIN2B | c.2265G>C (p.Lys755Asn) n.525G>C c.69+38679G>C (n.69+38679G>C) c.51G>C (p.Lys17Asn) | |
| 12 | g.13569924C>T | CA478703898 | GRIN2B | c.2265G>A (p.Lys755=) n.525G>A c.69+38679G>A (n.69+38679G>A) c.51G>A (p.Lys17=) | |
| 12 | g.13569925T>A | CA383998161 | GRIN2B | c.2264A>T (p.Lys755Met) n.524A>T c.69+38678A>T (n.69+38678A>T) c.50A>T (p.Lys17Met) | |
| 12 | g.13569925T>C | CA383998162 | GRIN2B | c.2264A>G (p.Lys755Arg) n.524A>G c.69+38678A>G (n.69+38678A>G) c.50A>G (p.Lys17Arg) | |
| 12 | g.13569925T>G | CA383998163 | GRIN2B | c.2264A>C (p.Lys755Thr) n.524A>C c.69+38678A>C (n.69+38678A>C) c.50A>C (p.Lys17Thr) | dbSNP |
| 12 | g.13569925T= | CA2017440462 | GRIN2B | c.2264A= (p.Lys755=) n.524A= c.69+38678A= (n.69+38678A=) c.50A= (p.Lys17=) | |
| 12 | g.13569926T>A | CA383998164 | GRIN2B | c.2263A>T (p.Lys755Ter) n.523A>T c.69+38677A>T (n.69+38677A>T) c.49A>T (p.Lys17Ter) | dbSNP |
| 12 | g.13569926T>C | CA383998165 | GRIN2B | c.2263A>G (p.Lys755Glu) n.523A>G c.69+38677A>G (n.69+38677A>G) c.49A>G (p.Lys17Glu) | dbSNP |
| 12 | g.13569926T>G | CA383998166 | GRIN2B | c.2263A>C (p.Lys755Gln) n.523A>C c.69+38677A>C (n.69+38677A>C) c.49A>C (p.Lys17Gln) | |
| 12 | g.13569926T= | CA2017440463 | GRIN2B | c.2263A= (p.Lys755=) n.523A= c.69+38677A= (n.69+38677A=) c.49A= (p.Lys17=) | |
| 12 | g.13569927C>A | CA478703900 | GRIN2B | c.2262G>T (p.Gly754=) n.522G>T c.69+38676G>T (n.69+38676G>T) c.48G>T (p.Gly16=) | |
| 12 | g.13569927C>G | CA478703901 | GRIN2B | c.2262G>C (p.Gly754=) n.522G>C c.69+38676G>C (n.69+38676G>C) c.48G>C (p.Gly16=) | |
| 12 | g.13569927C>T | CA478703902 | GRIN2B | c.2262G>A (p.Gly754=) n.522G>A c.69+38676G>A (n.69+38676G>A) c.48G>A (p.Gly16=) | |
| 12 | g.13569929del | CA2741231574 | GRIN2B | c.2262del (p.Lys755ArgfsTer?) n.522del c.69+38676del (n.69+38676del) c.48del (p.Lys17ArgfsTer?) | |
| 12 | g.13569928C>A | CA383998167 | GRIN2B | c.2261G>T (p.Gly754Val) n.521G>T c.69+38675G>T (n.69+38675G>T) c.47G>T (p.Gly16Val) | |
| 12 | g.13569928C>G | CA383998168 | GRIN2B | c.2261G>C (p.Gly754Ala) n.521G>C c.69+38675G>C (n.69+38675G>C) c.47G>C (p.Gly16Ala) | |
| 12 | g.13569928C>T | CA383998169 | GRIN2B | c.2261G>A (p.Gly754Glu) n.521G>A c.69+38675G>A (n.69+38675G>A) c.47G>A (p.Gly16Glu) | |
| 12 | g.13569929C>A | CA383998170 | GRIN2B | c.2260G>T (p.Gly754Trp) n.520G>T c.69+38674G>T (n.69+38674G>T) c.46G>T (p.Gly16Trp) | |
| 12 | g.13569929C= | CA2017440464 | GRIN2B | c.2260G= (p.Gly754=) n.520G= c.69+38674G= (n.69+38674G=) c.46G= (p.Gly16=) | |
| 12 | g.13569929C>G | CA383998171 | GRIN2B | c.2260G>C (p.Gly754Arg) n.520G>C c.69+38674G>C (n.69+38674G>C) c.46G>C (p.Gly16Arg) | |
| 12 | g.13569929C>T | CA383998172 | GRIN2B | c.2260G>A (p.Gly754Arg) n.520G>A c.69+38674G>A (n.69+38674G>A) c.46G>A (p.Gly16Arg) | ClinVar dbSNP gnomAD v4 |
| 12 | g.13569930A= | CA2017440465 | GRIN2B | c.2259T= (p.Ser753=) n.519T= c.69+38673T= (n.69+38673T=) c.45T= (p.Ser15=) | |
| 12 | g.13569930A>C | CA383998173 | GRIN2B | c.2259T>G (p.Ser753Arg) n.519T>G c.69+38673T>G (n.69+38673T>G) c.45T>G (p.Ser15Arg) | |
| 12 | g.13569930A>G | CA478703905 | GRIN2B | c.2259T>C (p.Ser753=) n.519T>C c.69+38673T>C (n.69+38673T>C) c.45T>C (p.Ser15=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.13569930A>T | CA383998174 | GRIN2B | c.2259T>A (p.Ser753Arg) n.519T>A c.69+38673T>A (n.69+38673T>A) c.45T>A (p.Ser15Arg) | |
| 12 | g.13569931C>A | CA383998175 | GRIN2B | c.2258G>T (p.Ser753Ile) n.518G>T c.69+38672G>T (n.69+38672G>T) c.44G>T (p.Ser15Ile) | |
| 12 | g.13569931C>G | CA383998176 | GRIN2B | c.2258G>C (p.Ser753Thr) n.518G>C c.69+38672G>C (n.69+38672G>C) c.44G>C (p.Ser15Thr) | |
| 12 | g.13569931C>T | CA383998177 | GRIN2B | c.2258G>A (p.Ser753Asn) n.518G>A c.69+38672G>A (n.69+38672G>A) c.44G>A (p.Ser15Asn) | |
| 12 | g.13569932T>A | CA383998178 | GRIN2B | c.2257A>T (p.Ser753Cys) n.517A>T c.69+38671A>T (n.69+38671A>T) c.43A>T (p.Ser15Cys) | |
| 12 | g.13569932T>C | CA383998179 | GRIN2B | c.2257A>G (p.Ser753Gly) n.517A>G c.69+38671A>G (n.69+38671A>G) c.43A>G (p.Ser15Gly) | |
| 12 | g.13569932T>G | CA383998180 | GRIN2B | c.2257A>C (p.Ser753Arg) n.517A>C c.69+38671A>C (n.69+38671A>C) c.43A>C (p.Ser15Arg) | |
| 12 | g.13569933G>A | CA478703915 | GRIN2B | c.2256C>T (p.Gly752=) n.516C>T c.69+38670C>T (n.69+38670C>T) c.42C>T (p.Gly14=) | gnomAD v4 |
| 12 | g.13569933G>C | CA478703912 | GRIN2B | c.2256C>G (p.Gly752=) n.516C>G c.69+38670C>G (n.69+38670C>G) c.42C>G (p.Gly14=) | |
| 12 | g.13569933G>T | CA478703914 | GRIN2B | c.2256C>A (p.Gly752=) n.516C>A c.69+38670C>A (n.69+38670C>A) c.42C>A (p.Gly14=) | |
| 12 | g.13569934C>A | CA383998181 | GRIN2B | c.2255G>T (p.Gly752Val) n.515G>T c.69+38669G>T (n.69+38669G>T) c.41G>T (p.Gly14Val) | |
| 12 | g.13569934C>G | CA383998182 | GRIN2B | c.2255G>C (p.Gly752Ala) n.515G>C c.69+38669G>C (n.69+38669G>C) c.41G>C (p.Gly14Ala) | |
| 12 | g.13569934C>T | CA383998183 | GRIN2B | c.2255G>A (p.Gly752Asp) n.515G>A c.69+38669G>A (n.69+38669G>A) c.41G>A (p.Gly14Asp) | |
| 12 | g.13569935C>A | CA383998184 | GRIN2B | c.2254G>T (p.Gly752Cys) n.514G>T c.69+38668G>T (n.69+38668G>T) c.40G>T (p.Gly14Cys) | |
| 12 | g.13569935C>G | CA383998185 | GRIN2B | c.2254G>C (p.Gly752Arg) n.514G>C c.69+38668G>C (n.69+38668G>C) c.40G>C (p.Gly14Arg) | |
| 12 | g.13569935C>T | CA383998186 | GRIN2B | c.2254G>A (p.Gly752Ser) n.514G>A c.69+38668G>A (n.69+38668G>A) c.40G>A (p.Gly14Ser) | |
| 12 | g.13569936A>C | CA383998187 | GRIN2B | c.2253T>G (p.Ile751Met) n.513T>G c.69+38667T>G (n.69+38667T>G) c.39T>G (p.Ile13Met) | |
| 12 | g.13569936A>G | CA478703924 | GRIN2B | c.2253T>C (p.Ile751=) n.513T>C c.69+38667T>C (n.69+38667T>C) c.39T>C (p.Ile13=) | |
| 12 | g.13569936A>T | CA478703925 | GRIN2B | c.2253T>A (p.Ile751=) n.513T>A c.69+38667T>A (n.69+38667T>A) c.39T>A (p.Ile13=) | |
| 12 | g.13569937A= | CA2017440466 | GRIN2B | c.2252T= (p.Ile751=) n.512T= c.69+38666T= (n.69+38666T=) c.38T= (p.Ile13=) | |
| 12 | g.13569937A>C | CA383998189 | GRIN2B | c.2252T>G (p.Ile751Ser) n.512T>G c.69+38666T>G (n.69+38666T>G) c.38T>G (p.Ile13Ser) | |
| 12 | g.13569937A>G | CA10577445 | GRIN2B | c.2252T>C (p.Ile751Thr) n.512T>C c.69+38666T>C (n.69+38666T>C) c.38T>C (p.Ile13Thr) | ClinVar dbSNP |
| 12 | g.13569937A>T | CA383998188 | GRIN2B | c.2252T>A (p.Ile751Asn) n.512T>A c.69+38666T>A (n.69+38666T>A) c.38T>A (p.Ile13Asn) | |
| 12 | g.13569938T>A | CA383998190 | GRIN2B | c.2251A>T (p.Ile751Phe) n.511A>T c.69+38665A>T (n.69+38665A>T) c.37A>T (p.Ile13Phe) | |
| 12 | g.13569938T>C | CA383998191 | GRIN2B | c.2251A>G (p.Ile751Val) n.511A>G c.69+38665A>G (n.69+38665A>G) c.37A>G (p.Ile13Val) | |
| 12 | g.13569938T>G | CA10584425 | GRIN2B | c.2251A>C (p.Ile751Leu) n.511A>C c.69+38665A>C (n.69+38665A>C) c.37A>C (p.Ile13Leu) | ClinVar dbSNP |
| 12 | g.13569938T= | CA2017440467 | GRIN2B | c.2251A= (p.Ile751=) n.511A= c.69+38665A= (n.69+38665A=) c.37A= (p.Ile13=) | |
| 12 | g.13569939G>A | CA478703935 | GRIN2B | c.2250C>T (p.Thr750=) n.510C>T c.69+38664C>T (n.69+38664C>T) c.36C>T (p.Thr12=) | gnomAD v4 |
| 12 | g.13569939G>C | CA6461089 | GRIN2B | c.2250C>G (p.Thr750=) n.510C>G c.69+38664C>G (n.69+38664C>G) c.36C>G (p.Thr12=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.13569939G= | CA2017440468 | GRIN2B | c.2250C= (p.Thr750=) n.510C= c.69+38664C= (n.69+38664C=) c.36C= (p.Thr12=) | |
| 12 | g.13569939G>T | CA478703938 | GRIN2B | c.2250C>A (p.Thr750=) n.510C>A c.69+38664C>A (n.69+38664C>A) c.36C>A (p.Thr12=) | |
| 12 | g.13569939_13569940dup | CA2580085196 | GRIN2B | c.2249_2250dup (p.Ile751ProfsTer?) n.509_510dup c.69+38663_69+38664dup (n.69+38663_69+38664dup) c.35_36dup (p.Ile13ProfsTer?) | ClinVar |
| 12 | g.13569940G>A | CA383998192 | GRIN2B | c.2249C>T (p.Thr750Ile) n.509C>T c.69+38663C>T (n.69+38663C>T) c.35C>T (p.Thr12Ile) | |
| 12 | g.13569940G>C | CA383998193 | GRIN2B | c.2249C>G (p.Thr750Ser) n.509C>G c.69+38663C>G (n.69+38663C>G) c.35C>G (p.Thr12Ser) | |
| 12 | g.13569940G>T | CA383998194 | GRIN2B | c.2249C>A (p.Thr750Asn) n.509C>A c.69+38663C>A (n.69+38663C>A) c.35C>A (p.Thr12Asn) | |
| 12 | g.13569941T>A | CA383998195 | GRIN2B | c.2248A>T (p.Thr750Ser) n.508A>T c.69+38662A>T (n.69+38662A>T) c.34A>T (p.Thr12Ser) | |
| 12 | g.13569941T>C | CA383998196 | GRIN2B | c.2248A>G (p.Thr750Ala) n.508A>G c.69+38662A>G (n.69+38662A>G) c.34A>G (p.Thr12Ala) | |
| 12 | g.13569941T>G | CA383998197 | GRIN2B | c.2248A>C (p.Thr750Pro) n.508A>C c.69+38662A>C (n.69+38662A>C) c.34A>C (p.Thr12Pro) | |
| 12 | g.13569942C>A | CA478703947 | GRIN2B | c.2247G>T (p.Val749=) n.507G>T c.69+38661G>T (n.69+38661G>T) c.33G>T (p.Val11=) | |
| 12 | g.13569942C= | CA2017440469 | GRIN2B | c.2247G= (p.Val749=) n.507G= c.69+38661G= (n.69+38661G=) c.33G= (p.Val11=) | |
| 12 | g.13569942C>G | CA478703949 | GRIN2B | c.2247G>C (p.Val749=) n.507G>C c.69+38661G>C (n.69+38661G>C) c.33G>C (p.Val11=) | |
| 12 | g.13569942C>T | CA6461090 | GRIN2B | c.2247G>A (p.Val749=) n.507G>A c.69+38661G>A (n.69+38661G>A) c.33G>A (p.Val11=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.13569943A= | CA2017440470 | GRIN2B | c.2246T= (p.Val749=) n.506T= c.69+38660T= (n.69+38660T=) c.32T= (p.Val11=) | |
| 12 | g.13569943A>C | CA383998198 | GRIN2B | c.2246T>G (p.Val749Gly) n.506T>G c.69+38660T>G (n.69+38660T>G) c.32T>G (p.Val11Gly) | dbSNP |
| 12 | g.13569943A>G | CA383998199 | GRIN2B | c.2246T>C (p.Val749Ala) n.506T>C c.69+38660T>C (n.69+38660T>C) c.32T>C (p.Val11Ala) | |
| 12 | g.13569943A>T | CA383998200 | GRIN2B | c.2246T>A (p.Val749Glu) n.506T>A c.69+38660T>A (n.69+38660T>A) c.32T>A (p.Val11Glu) |