| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.42066730C>A | CA127850 | NAGA | c.577G>T (p.Glu193Ter) | ClinVar dbSNP |
| 22 | g.42066730C= | CA2406550405 | NAGA | c.577G= (p.Glu193=) | |
| 22 | g.42066730C>G | CA324656135 | NAGA | c.577G>C (p.Glu193Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42066730C>T | CA411768464 | NAGA | c.577G>A (p.Glu193Lys) | |
| 22 | g.42066731A= | CA2406550406 | NAGA | c.576T= (p.Tyr192=) | |
| 22 | g.42066731A>C | CA411768465 | NAGA | c.576T>G (p.Tyr192Ter) | gnomAD v4 |
| 22 | g.42066731A>G | CA514677708 | NAGA | c.576T>C (p.Tyr192=) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.42066731A>T | CA411768466 | NAGA | c.576T>A (p.Tyr192Ter) | |
| 22 | g.42066732T>A | CA411768468 | NAGA | c.575A>T (p.Tyr192Phe) | |
| 22 | g.42066732T>C | CA10263771 | NAGA | c.575A>G (p.Tyr192Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42066732T>G | CA411768467 | NAGA | c.575A>C (p.Tyr192Ser) | |
| 22 | g.42066732T= | CA2406550407 | NAGA | c.575A= (p.Tyr192=) | |
| 22 | g.42066733A= | CA2406550408 | NAGA | c.574T= (p.Tyr192=) | |
| 22 | g.42066733A>C | CA411768469 | NAGA | c.574T>G (p.Tyr192Asp) | |
| 22 | g.42066733A>G | CA411768470 | NAGA | c.574T>C (p.Tyr192His) | gnomAD v4 |
| 22 | g.42066733A>T | CA411768471 | NAGA | c.574T>A (p.Tyr192Asn) | dbSNP |
| 22 | g.42066734G>A | CA514677715 | NAGA | c.573C>T (p.Ala191=) | ClinVar dbSNP |
| 22 | g.42066734G>C | CA514677714 | NAGA | c.573C>G (p.Ala191=) | |
| 22 | g.42066734G>T | CA514677713 | NAGA | c.573C>A (p.Ala191=) | gnomAD v4 |
| 22 | g.42066735G>A | CA411768472 | NAGA | c.572C>T (p.Ala191Val) | gnomAD v4 |
| 22 | g.42066735G>C | CA411768473 | NAGA | c.572C>G (p.Ala191Gly) | gnomAD v4 |
| 22 | g.42066735G= | CA2406550409 | NAGA | c.572C= (p.Ala191=) | |
| 22 | g.42066735G>T | CA10263772 | NAGA | c.572C>A (p.Ala191Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42066736C>A | CA411768474 | NAGA | c.571G>T (p.Ala191Ser) | gnomAD v4 |
| 22 | g.42066736C>G | CA411768475 | NAGA | c.571G>C (p.Ala191Pro) | |
| 22 | g.42066736C>T | CA411768476 | NAGA | c.571G>A (p.Ala191Thr) | |
| 22 | g.42066737T>A | CA514677719 | NAGA | c.570A>T (p.Pro190=) | gnomAD v4 |
| 22 | g.42066737T>C | CA324656146 | NAGA | c.570A>G (p.Pro190=) | dbSNP |
| 22 | g.42066737T>G | CA514677718 | NAGA | c.570A>C (p.Pro190=) | |
| 22 | g.42066737T= | CA2406550410 | NAGA | c.570A= (p.Pro190=) | |
| 22 | g.42066738G>A | CA411768477 | NAGA | c.569C>T (p.Pro190Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.42066738G>C | CA411768478 | NAGA | c.569C>G (p.Pro190Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.42066738G= | CA2406550411 | NAGA | c.569C= (p.Pro190=) | |
| 22 | g.42066738G>T | CA411768479 | NAGA | c.569C>A (p.Pro190Gln) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.42066739G>A | CA411768481 | NAGA | c.568C>T (p.Pro190Ser) | gnomAD v4 |
| 22 | g.42066739G>C | CA411768482 | NAGA | c.568C>G (p.Pro190Ala) | |
| 22 | g.42066739G>T | CA411768480 | NAGA | c.568C>A (p.Pro190Thr) | |
| 22 | g.42066740C>A | CA411768483 | NAGA | c.567G>T (p.Trp189Cys) | gnomAD v4 COSMIC |
| 22 | g.42066740C= | CA2406550412 | NAGA | c.567G= (p.Trp189=) | |
| 22 | g.42066740C>G | CA411768484 | NAGA | c.567G>C (p.Trp189Cys) | |
| 22 | g.42066740C>T | CA324656158 | NAGA | c.567G>A (p.Trp189Ter) | dbSNP gnomAD v4 |
| 22 | g.42066741C>A | CA411768485 | NAGA | c.566G>T (p.Trp189Leu) | gnomAD v4 |
| 22 | g.42066741C>G | CA411768486 | NAGA | c.566G>C (p.Trp189Ser) | |
| 22 | g.42066741C>T | CA411768487 | NAGA | c.566G>A (p.Trp189Ter) | |
| 22 | g.42066742A>C | CA411768490 | NAGA | c.565T>G (p.Trp189Gly) | |
| 22 | g.42066742A>G | CA411768488 | NAGA | c.565T>C (p.Trp189Arg) | gnomAD v4 |
| 22 | g.42066742A>T | CA411768489 | NAGA | c.565T>A (p.Trp189Arg) | |
| 22 | g.42066743G>A | CA514677721 | NAGA | c.564C>T (p.Ser188=) | gnomAD v4 |
| 22 | g.42066743G>C | CA411768491 | NAGA | c.564C>G (p.Ser188Arg) | |
| 22 | g.42066743G>T | CA411768492 | NAGA | c.564C>A (p.Ser188Arg) | gnomAD v4 |