| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.1399730_1399880del | CA2695223157 | GAMT | c.242_327+65del c.173_258+65del | |
| 19 | g.1399836_1399838dup | CA2695223160 | GAMT | c.283_285dup (p.Val95_Phe96insVal) c.214_216dup (p.Val72_Phe73insVal) | |
| 19 | g.1399840_1399897dup | CA2582641492 | GAMT | c.228_285dup (p.Phe96LysfsTer8) c.159_216dup (p.Phe73LysfsTer8) | gnomAD v4 |
| 19 | g.1399837_1399840del | CA2582641493 | GAMT | c.280_283del (p.Gly94SerfsTer19) c.211_214del (p.Gly71SerfsTer19) | gnomAD v4 |
| 19 | g.1399837_1399842delinsGTGCATCGAG | CA2695223162 | GAMT | c.278_283delinsCTCGATGCAC (p.Asp93AlafsTer?) c.209_214delinsCTCGATGCAC (p.Asp70AlafsTer?) | |
| 19 | g.1399838G>A | CA9043750 | GAMT | c.282C>T (p.Gly94=) c.213C>T (p.Gly71=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.1399838G>C | CA504730285 | GAMT | c.282C>G (p.Gly94=) c.213C>G (p.Gly71=) | dbSNP |
| 19 | g.1399838G= | CA2317699523 | GAMT | c.282C= (p.Gly94=) c.213C= (p.Gly71=) | |
| 19 | g.1399838G>T | CA504730286 | GAMT | c.282C>A (p.Gly94=) c.213C>A (p.Gly71=) | |
| 19 | g.1399839C>A | CA402996369 | GAMT | c.281G>T (p.Gly94Val) c.212G>T (p.Gly71Val) | dbSNP |
| 19 | g.1399839C= | CA2317699524 | GAMT | c.281G= (p.Gly94=) c.212G= (p.Gly71=) | |
| 19 | g.1399839C>G | CA402996363 | GAMT | c.281G>C (p.Gly94Ala) c.212G>C (p.Gly71Ala) | |
| 19 | g.1399839C>T | CA402996359 | GAMT | c.281G>A (p.Gly94Asp) c.212G>A (p.Gly71Asp) | |
| 19 | g.1399840C>A | CA402996376 | GAMT | c.280G>T (p.Gly94Cys) c.211G>T (p.Gly71Cys) | dbSNP gnomAD v4 |
| 19 | g.1399840C= | CA2317699525 | GAMT | c.280G= (p.Gly94=) c.211G= (p.Gly71=) | |
| 19 | g.1399840C>G | CA402996379 | GAMT | c.280G>C (p.Gly94Arg) c.211G>C (p.Gly71Arg) | |
| 19 | g.1399840C>T | CA9043751 | GAMT | c.280G>A (p.Gly94Ser) c.211G>A (p.Gly71Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.1399841G>A | CA291015 | GAMT | c.279C>T (p.Asp93=) c.210C>T (p.Asp70=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.1399841G>C | CA402996390 | GAMT | c.279C>G (p.Asp93Glu) c.210C>G (p.Asp70Glu) | dbSNP |
| 19 | g.1399841G= | CA2317699526 | GAMT | c.279C= (p.Asp93=) c.210C= (p.Asp70=) | |
| 19 | g.1399841G>T | CA402996394 | GAMT | c.279C>A (p.Asp93Glu) c.210C>A (p.Asp70Glu) | |
| 19 | g.1399842T>A | CA402996396 | GAMT | c.278A>T (p.Asp93Val) c.209A>T (p.Asp70Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.1399842T>C | CA402996397 | GAMT | c.278A>G (p.Asp93Gly) c.209A>G (p.Asp70Gly) | |
| 19 | g.1399842T>G | CA402996400 | GAMT | c.278A>C (p.Asp93Ala) c.209A>C (p.Asp70Ala) | |
| 19 | g.1399842T= | CA2317699527 | GAMT | c.278A= (p.Asp93=) c.209A= (p.Asp70=) | |
| 19 | g.1399842_1399843insGCATCGAG | CA2582641494 | GAMT | c.277_278insCTCGATGC (p.Asp93AlafsTer24) c.208_209insCTCGATGC (p.Asp70AlafsTer24) | gnomAD v4 |
| 19 | g.1399843C>A | CA402996402 | GAMT | c.277G>T (p.Asp93Tyr) c.208G>T (p.Asp70Tyr) | gnomAD v4 COSMIC COSMIC |
| 19 | g.1399843C>G | CA402996404 | GAMT | c.277G>C (p.Asp93His) c.208G>C (p.Asp70His) | |
| 19 | g.1399843C>T | CA402996406 | GAMT | c.277G>A (p.Asp93Asn) c.208G>A (p.Asp70Asn) | |
| 19 | g.1399844A= | CA2317699528 | GAMT | c.276T= (p.Asn92=) c.207T= (p.Asn69=) | |
| 19 | g.1399844A>C | CA9043752 | GAMT | c.276T>G (p.Asn92Lys) c.207T>G (p.Asn69Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.1399844A>G | CA504730288 | GAMT | c.276T>C (p.Asn92=) c.207T>C (p.Asn69=) | ClinVar dbSNP gnomAD v4 |
| 19 | g.1399844A>T | CA402996412 | GAMT | c.276T>A (p.Asn92Lys) c.207T>A (p.Asn69Lys) | |
| 19 | g.1399845T>A | CA402996419 | GAMT | c.275A>T (p.Asn92Ile) c.206A>T (p.Asn69Ile) | |
| 19 | g.1399845T>C | CA402996417 | GAMT | c.275A>G (p.Asn92Ser) c.206A>G (p.Asn69Ser) | gnomAD v4 |
| 19 | g.1399845T>G | CA402996415 | GAMT | c.275A>C (p.Asn92Thr) c.206A>C (p.Asn69Thr) | |
| 19 | g.1399846T>A | CA402996423 | GAMT | c.274A>T (p.Asn92Tyr) c.205A>T (p.Asn69Tyr) | |
| 19 | g.1399846T>C | CA402996427 | GAMT | c.274A>G (p.Asn92Asp) c.205A>G (p.Asn69Asp) | ClinVar gnomAD v4 |
| 19 | g.1399846T>G | CA402996430 | GAMT | c.274A>C (p.Asn92His) c.205A>C (p.Asn69His) | |
| 19 | g.1399847G>A | CA504730290 | GAMT | c.273C>T (p.Cys91=) c.204C>T (p.Cys68=) | ClinVar dbSNP gnomAD v4 |
| 19 | g.1399847G>C | CA402996434 | GAMT | c.273C>G (p.Cys91Trp) c.204C>G (p.Cys68Trp) | |
| 19 | g.1399847G>T | CA402996437 | GAMT | c.273C>A (p.Cys91Ter) c.204C>A (p.Cys68Ter) | gnomAD v4 |
| 19 | g.1399848C>A | CA402996442 | GAMT | c.272G>T (p.Cys91Phe) c.203G>T (p.Cys68Phe) | |
| 19 | g.1399848C>G | CA402996441 | GAMT | c.272G>C (p.Cys91Ser) c.203G>C (p.Cys68Ser) | |
| 19 | g.1399848C>T | CA402996439 | GAMT | c.272G>A (p.Cys91Tyr) c.203G>A (p.Cys68Tyr) | gnomAD v4 |
| 19 | g.1399849A>C | CA402996443 | GAMT | c.271T>G (p.Cys91Gly) c.202T>G (p.Cys68Gly) | gnomAD v4 |
| 19 | g.1399849A>G | CA402996444 | GAMT | c.271T>C (p.Cys91Arg) c.202T>C (p.Cys68Arg) | gnomAD v4 |
| 19 | g.1399849A>T | CA402996446 | GAMT | c.271T>A (p.Cys91Ser) c.202T>A (p.Cys68Ser) | |
| 19 | g.1399849_1399850insTA | CA2573334549 | GAMT | c.271_272insAT (p.Cys91TyrfsTer24) c.202_203insAT (p.Cys68TyrfsTer24) | |
| 19 | g.1399850C>A | CA402996449 | GAMT | c.270G>T (p.Glu90Asp) c.201G>T (p.Glu67Asp) |