| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.50627209_50627241del | CA2573158321 | ARSA | c.393_425del (p.Pro132_Gly142del) c.135_167del (p.Pro46_Gly56del) n.784_816del | ClinVar dbSNP |
| 22 | g.50627210G>A | CA16042044 | ARSA | c.421C>T (p.Gln141Ter) c.163C>T (p.Gln55Ter) n.812C>T | ClinVar dbSNP |
| 22 | g.50627210G>C | CA412180284 | ARSA | c.421C>G (p.Gln141Glu) c.163C>G (p.Gln55Glu) n.812C>G | |
| 22 | g.50627210G= | CA2410959486 | ARSA | c.421C= (p.Gln141=) c.163C= (p.Gln55=) n.812C= | |
| 22 | g.50627210G>T | CA412180289 | ARSA | c.421C>A (p.Gln141Lys) c.163C>A (p.Gln55Lys) n.812C>A | |
| 22 | g.50627211A>C | CA412180295 | ARSA | c.420T>G (p.His140Gln) c.162T>G (p.His54Gln) n.811T>G | |
| 22 | g.50627211A>G | CA515391416 | ARSA | c.420T>C (p.His140=) c.162T>C (p.His54=) n.811T>C | |
| 22 | g.50627211A>T | CA412180306 | ARSA | c.420T>A (p.His140Gln) c.162T>A (p.His54Gln) n.811T>A | |
| 22 | g.50627211_50627212insG | CA645612062 | ARSA | c.419_420insC (p.Gln141SerfsTer?) c.161_162insC (p.Gln55SerfsTer?) n.810_811insC | COSMIC |
| 22 | g.50627212T>A | CA412180308 | ARSA | c.419A>T (p.His140Leu) c.161A>T (p.His54Leu) n.810A>T | ClinVar dbSNP gnomAD v4 |
| 22 | g.50627212T>C | CA412180312 | ARSA | c.419A>G (p.His140Arg) c.161A>G (p.His54Arg) n.810A>G | |
| 22 | g.50627212T>G | CA412180316 | ARSA | c.419A>C (p.His140Pro) c.161A>C (p.His54Pro) n.810A>C | |
| 22 | g.50627212T= | CA1139532175 | ARSA | c.419A= (p.His140=) c.161A= (p.His54=) n.810A= | |
| 22 | g.50627212_50627213delinsTG | CA2410959487 | ARSA | c.418_419delinsCA (p.His140=) c.160_161delinsCA (p.His54=) n.809_810delinsCA | |
| 22 | g.50627213G>A | CA10325037 | ARSA | c.418C>T (p.His140Tyr) c.160C>T (p.His54Tyr) n.809C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50627213G>C | CA219020 | ARSA | c.418C>G (p.His140Asp) c.160C>G (p.His54Asp) n.809C>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50627213G= | CA2410959488 | ARSA | c.418C= (p.His140=) c.160C= (p.His54=) n.809C= | |
| 22 | g.50627213G>T | CA412180330 | ARSA | c.418C>A (p.His140Asn) c.160C>A (p.His54Asn) n.809C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50627219dup | CA10325035 | ARSA | c.418dup (p.His140ProfsTer?) c.160dup (p.His54ProfsTer?) n.809dup | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 22 | g.50627219del | CA10325036 | ARSA | c.418del (p.His140IlefsTer8) c.160del (p.His54IlefsTer8) n.809del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 22 | g.50627217_50627219del | CA2695231030 | ARSA | c.416_418del (p.Pro139del) c.158_160del (p.Pro53del) n.807_809del | |
| 22 | g.50627214G>A | CA10325038 | ARSA | c.417C>T (p.Pro139=) c.159C>T (p.Pro53=) n.808C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50627214G>C | CA10325039 | ARSA | c.417C>G (p.Pro139=) c.159C>G (p.Pro53=) n.808C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50627214G= | CA2410959489 | ARSA | c.417C= (p.Pro139=) c.159C= (p.Pro53=) n.808C= | |
| 22 | g.50627214G>T | CA515391419 | ARSA | c.417C>A (p.Pro139=) c.159C>A (p.Pro53=) n.808C>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50627215G>A | CA412180359 | ARSA | c.416C>T (p.Pro139Leu) c.158C>T (p.Pro53Leu) n.807C>T | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50627215G>C | CA412180363 | ARSA | c.416C>G (p.Pro139Arg) c.158C>G (p.Pro53Arg) n.807C>G | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50627215G= | CA2410959490 | ARSA | c.416C= (p.Pro139=) c.158C= (p.Pro53=) n.807C= | |
| 22 | g.50627215G>T | CA412180373 | ARSA | c.416C>A (p.Pro139His) c.158C>A (p.Pro53His) n.807C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50627216G>A | CA412180374 | ARSA | c.415C>T (p.Pro139Ser) c.157C>T (p.Pro53Ser) n.806C>T | gnomAD v4 COSMIC |
| 22 | g.50627216G>C | CA412180375 | ARSA | c.415C>G (p.Pro139Ala) c.157C>G (p.Pro53Ala) n.806C>G | |
| 22 | g.50627216G>T | CA412180377 | ARSA | c.415C>A (p.Pro139Thr) c.157C>A (p.Pro53Thr) n.806C>A | |
| 22 | g.50627217G>A | CA515391421 | ARSA | c.414C>T (p.Pro138=) c.156C>T (p.Pro52=) n.805C>T | ClinVar dbSNP COSMIC |
| 22 | g.50627217G>C | CA325531575 | ARSA | c.414C>G (p.Pro138=) c.156C>G (p.Pro52=) n.805C>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50627217G= | CA2410959491 | ARSA | c.414C= (p.Pro138=) c.156C= (p.Pro52=) n.805C= | |
| 22 | g.50627217G>T | CA515391424 | ARSA | c.414C>A (p.Pro138=) c.156C>A (p.Pro52=) n.805C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50627218G>A | CA115977 | ARSA | c.413C>T (p.Pro138Leu) c.155C>T (p.Pro52Leu) n.804C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50627218G>C | CA412180391 | ARSA | c.413C>G (p.Pro138Arg) c.155C>G (p.Pro52Arg) n.804C>G | ClinVar dbSNP |
| 22 | g.50627218G= | CA2410959492 | ARSA | c.413C= (p.Pro138=) c.155C= (p.Pro52=) n.804C= | |
| 22 | g.50627218G>T | CA412180394 | ARSA | c.413C>A (p.Pro138His) c.155C>A (p.Pro52His) n.804C>A | ClinVar dbSNP |
| 22 | g.50627218_50627219insC | CA2657593847 | ARSA | c.412_413insG (p.Pro138ArgfsTer?) c.154_155insG (p.Pro52ArgfsTer?) n.803_804insG | gnomAD v4 |
| 22 | g.50627219G>A | CA219018 | ARSA | c.412C>T (p.Pro138Ser) c.154C>T (p.Pro52Ser) n.803C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50627219G>C | CA325531576 | ARSA | c.412C>G (p.Pro138Ala) c.154C>G (p.Pro52Ala) n.803C>G | ClinVar dbSNP |
| 22 | g.50627219G= | CA2410959493 | ARSA | c.412C= (p.Pro138=) c.154C= (p.Pro52=) n.803C= | |
| 22 | g.50627219G>T | CA10325040 | ARSA | c.412C>A (p.Pro138Thr) c.154C>A (p.Pro52Thr) n.803C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50627220C>A | CA515391431 | ARSA | c.411G>T (p.Leu137=) c.153G>T (p.Leu51=) n.802G>T | |
| 22 | g.50627220C>G | CA515391427 | ARSA | c.411G>C (p.Leu137=) c.153G>C (p.Leu51=) n.802G>C | |
| 22 | g.50627220C>T | CA515391429 | ARSA | c.411G>A (p.Leu137=) c.153G>A (p.Leu51=) n.802G>A | |
| 22 | g.50627221A= | CA2410959494 | ARSA | c.410T= (p.Leu137=) c.152T= (p.Leu51=) n.801T= | |
| 22 | g.50627221A>C | CA412180410 | ARSA | c.410T>G (p.Leu137Arg) c.152T>G (p.Leu51Arg) n.801T>G |