Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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=) | |
12 | g.13753793G>C | CA478853833 | GRIN2B | c.534C>G (p.Gly178=) | |
12 | g.13753793G= | CA2017525963 | GRIN2B | c.534C= (p.Gly178=) | |
12 | g.13753793G>T | CA478853834 | GRIN2B | c.534C>A (p.Gly178=) | dbSNP gnomAD v2 |
12 | g.13753794C>A | CA384054469 | GRIN2B | c.533G>T (p.Gly178Val) | |
12 | g.13753794C>G | CA384054470 | GRIN2B | c.533G>C (p.Gly178Ala) | |
12 | g.13753794C>T | CA384054472 | GRIN2B | c.533G>A (p.Gly178Asp) | ClinVar gnomAD v4 |
12 | g.13753795del | CA2575085881 | GRIN2B | c.533del (p.Gly178AlafsTer6) | |
12 | g.13753795C>A | CA384054474 | GRIN2B | c.532G>T (p.Gly178Cys) | |
12 | g.13753795C>G | CA384054476 | GRIN2B | c.532G>C (p.Gly178Arg) | |
12 | g.13753795C>T | CA384054477 | GRIN2B | c.532G>A (p.Gly178Ser) | |
12 | g.13753796A>C | CA478853835 | GRIN2B | c.531T>G (p.Pro177=) | |
12 | g.13753796A>G | CA478853836 | GRIN2B | c.531T>C (p.Pro177=) | |
12 | g.13753796A>T | CA478853837 | GRIN2B | c.531T>A (p.Pro177=) | |
12 | g.13753797G>A | CA384054483 | GRIN2B | c.530C>T (p.Pro177Leu) | COSMIC |
12 | g.13753797G>C | CA384054479 | GRIN2B | c.530C>G (p.Pro177Arg) | |
12 | g.13753797G>T | CA384054481 | GRIN2B | c.530C>A (p.Pro177His) | COSMIC |
12 | g.13753798G>A | CA6461387 | GRIN2B | c.529C>T (p.Pro177Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.13753798G>C | CA384054485 | GRIN2B | c.529C>G (p.Pro177Ala) | |
12 | g.13753798G= | CA2017525964 | GRIN2B | c.529C= (p.Pro177=) | |
12 | g.13753798G>T | CA384054487 | GRIN2B | c.529C>A (p.Pro177Thr) | COSMIC |
12 | g.13753799G>A | CA478853838 | GRIN2B | c.528C>T (p.Phe176=) | COSMIC |
12 | g.13753799G>C | CA384054488 | GRIN2B | c.528C>G (p.Phe176Leu) | |
12 | g.13753799G>T | CA384054490 | GRIN2B | c.528C>A (p.Phe176Leu) | |
12 | g.13753800A>C | CA384054492 | GRIN2B | c.527T>G (p.Phe176Cys) | |
12 | g.13753800A>G | CA384054493 | GRIN2B | c.527T>C (p.Phe176Ser) | |
12 | g.13753800A>T | CA384054497 | GRIN2B | c.527T>A (p.Phe176Tyr) | |
12 | g.13753801A>C | CA384054499 | GRIN2B | c.526T>G (p.Phe176Val) | |
12 | g.13753801A>G | CA384054501 | GRIN2B | c.526T>C (p.Phe176Leu) | |
12 | g.13753801A>T | CA384054503 | GRIN2B | c.526T>A (p.Phe176Ile) | |
12 | g.13753802A>C | CA384054505 | GRIN2B | c.525T>G (p.Tyr175Ter) | |
12 | g.13753802A>G | CA478853839 | GRIN2B | c.525T>C (p.Tyr175=) | gnomAD v4 |
12 | g.13753802A>T | CA384054507 | GRIN2B | c.525T>A (p.Tyr175Ter) | |
12 | g.13753803T>A | CA384054513 | GRIN2B | c.524A>T (p.Tyr175Phe) | |
12 | g.13753803T>C | CA384054509 | GRIN2B | c.524A>G (p.Tyr175Cys) | |
12 | g.13753803T>G | CA384054511 | GRIN2B | c.524A>C (p.Tyr175Ser) | |
12 | g.13753804A>C | CA384054517 | GRIN2B | c.523T>G (p.Tyr175Asp) | |
12 | g.13753804A>G | CA384054518 | GRIN2B | c.523T>C (p.Tyr175His) | |
12 | g.13753804A>T | CA384054521 | GRIN2B | c.523T>A (p.Tyr175Asn) | |
12 | g.13753805G>A | CA478853840 | GRIN2B | c.522C>T (p.Thr174=) | |
12 | g.13753805G>C | CA478853841 | GRIN2B | c.522C>G (p.Thr174=) | |
12 | g.13753805G>T | CA478853842 | GRIN2B | c.522C>A (p.Thr174=) | |
12 | g.13753806G>A | CA384054523 | GRIN2B | c.521C>T (p.Thr174Ile) | |
12 | g.13753806G>C | CA384054525 | GRIN2B | c.521C>G (p.Thr174Ser) | |
12 | g.13753806G>T | CA384054527 | GRIN2B | c.521C>A (p.Thr174Asn) | |
12 | g.13753807T>A | CA384054532 | GRIN2B | c.520A>T (p.Thr174Ser) |