Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.13753779A>C | CA384054405 | GRIN2B | c.548T>G (p.Val183Gly) | |
12 | g.13753779A>G | CA384054412 | GRIN2B | c.548T>C (p.Val183Ala) | |
12 | g.13753779A>T | CA384054413 | GRIN2B | c.548T>A (p.Val183Glu) | |
12 | g.13753780C>A | CA384054415 | GRIN2B | c.547G>T (p.Val183Leu) | |
12 | g.13753780C>G | CA384054416 | GRIN2B | c.547G>C (p.Val183Leu) | |
12 | g.13753780C>T | CA384054417 | GRIN2B | c.547G>A (p.Val183Ile) | |
12 | g.13753781A= | CA2017525956 | GRIN2B | c.546T= (p.Phe182=) | |
12 | g.13753781A>C | CA384054419 | GRIN2B | c.546T>G (p.Phe182Leu) | |
12 | g.13753781A>G | CA6461386 | GRIN2B | c.546T>C (p.Phe182=) | dbSNP ExAC |
12 | g.13753781A>T | CA384054421 | GRIN2B | c.546T>A (p.Phe182Leu) | |
12 | g.13753782A>C | CA384054422 | GRIN2B | c.545T>G (p.Phe182Cys) | |
12 | g.13753782A>G | CA384054423 | GRIN2B | c.545T>C (p.Phe182Ser) | |
12 | g.13753782A>T | CA384054425 | GRIN2B | c.545T>A (p.Phe182Tyr) | |
12 | g.13753783A>C | CA384054430 | GRIN2B | c.544T>G (p.Phe182Val) | ClinVar |
12 | g.13753783A>G | CA384054426 | GRIN2B | c.544T>C (p.Phe182Leu) | ClinVar gnomAD v4 |
12 | g.13753783A>T | CA384054428 | GRIN2B | c.544T>A (p.Phe182Ile) | |
12 | g.13753784G>A | CA478853830 | GRIN2B | c.543C>T (p.Asp181=) | |
12 | g.13753784G>C | CA384054431 | GRIN2B | c.543C>G (p.Asp181Glu) | |
12 | g.13753784G>T | CA384054432 | GRIN2B | c.543C>A (p.Asp181Glu) | |
12 | g.13753785T>A | CA384054434 | GRIN2B | c.542A>T (p.Asp181Val) | |
12 | g.13753785T>C | CA16613688 | GRIN2B | c.542A>G (p.Asp181Gly) | ClinVar dbSNP |
12 | g.13753785T>G | CA384054435 | GRIN2B | c.542A>C (p.Asp181Ala) | |
12 | g.13753785T= | CA2017525957 | GRIN2B | c.542A= (p.Asp181=) | |
12 | g.13753786C>A | CA384054437 | GRIN2B | c.541G>T (p.Asp181Tyr) | |
12 | g.13753786C>G | CA384054438 | GRIN2B | c.541G>C (p.Asp181His) | |
12 | g.13753786C>T | CA384054440 | GRIN2B | c.541G>A (p.Asp181Asn) | COSMIC |
12 | g.13753787C>A | CA384054442 | GRIN2B | c.540G>T (p.Gln180His) | |
12 | g.13753787C= | CA2017525958 | GRIN2B | c.540G= (p.Gln180=) | |
12 | g.13753787C>G | CA384054444 | GRIN2B | c.540G>C (p.Gln180His) | |
12 | g.13753787C>T | CA16606563 | GRIN2B | c.540G>A (p.Gln180=) | ClinVar dbSNP gnomAD v4 COSMIC |
12 | g.13753788T>A | CA384054450 | GRIN2B | c.539A>T (p.Gln180Leu) | |
12 | g.13753788T>C | CA384054448 | GRIN2B | c.539A>G (p.Gln180Arg) | gnomAD v4 |
12 | g.13753788T>G | CA384054447 | GRIN2B | c.539A>C (p.Gln180Pro) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.13753788T= | CA2017525959 | GRIN2B | c.539A= (p.Gln180=) | |
12 | g.13753789G>A | CA384054452 | GRIN2B | c.538C>T (p.Gln180Ter) | ClinVar dbSNP |
12 | g.13753789G>C | CA384054455 | GRIN2B | c.538C>G (p.Gln180Glu) | |
12 | g.13753789G= | CA2017525960 | GRIN2B | c.538C= (p.Gln180=) | |
12 | g.13753789G>T | CA384054453 | GRIN2B | c.538C>A (p.Gln180Lys) | |
12 | g.13753790G>A | CA478853831 | GRIN2B | c.537C>T (p.Tyr179=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
12 | g.13753790G>C | CA384054456 | GRIN2B | c.537C>G (p.Tyr179Ter) | |
12 | g.13753790G= | CA2017525961 | GRIN2B | c.537C= (p.Tyr179=) | |
12 | g.13753790G>T | CA384054458 | GRIN2B | c.537C>A (p.Tyr179Ter) | dbSNP |
12 | g.13753791T>A | CA384054461 | GRIN2B | c.536A>T (p.Tyr179Phe) | |
12 | g.13753791T>C | CA384054463 | GRIN2B | c.536A>G (p.Tyr179Cys) | |
12 | g.13753791T>G | CA384054464 | GRIN2B | c.536A>C (p.Tyr179Ser) | |
12 | g.13753792A= | CA2017525962 | GRIN2B | c.535T= (p.Tyr179=) | |
12 | g.13753792A>C | CA384054468 | GRIN2B | c.535T>G (p.Tyr179Asp) | |
12 | g.13753792A>G | CA384054466 | GRIN2B | c.535T>C (p.Tyr179His) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.13753792A>T | CA384054465 | GRIN2B | c.535T>A (p.Tyr179Asn) | |
12 | g.13753793G>A | CA478853832 | GRIN2B | c.534C>T (p.Gly178=) |