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.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.50627218_50627219dup | CA2819314707 | ARSA | c.417_418dup (p.His140ProfsTer9) c.159_160dup (p.His54ProfsTer9) n.808_809dup | |
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.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 | |
22 | g.50627221A>G | CA116003 | ARSA | c.410T>C (p.Leu137Pro) c.152T>C (p.Leu51Pro) n.801T>C | ClinVar dbSNP |
22 | g.50627221A>T | CA412180423 | ARSA | c.410T>A (p.Leu137Gln) c.152T>A (p.Leu51Gln) n.801T>A | |
22 | g.50627221_50627233del | CA913088709 | ARSA | c.398_410del (p.Glu133GlyfsTer11) c.140_152del (p.Glu47GlyfsTer11) n.789_801del | |
22 | g.50627221_50627233delinsAGGAAGGCCCCCT | CA2410959495 | ARSA | c.398_410delinsAGGGGGCCTTCCT (p.Glu133=) c.140_152delinsAGGGGGCCTTCCT (p.Glu47=) n.789_801delinsAGGGGGCCTTCCT | |
22 | g.50627222G>A | CA515391433 | ARSA | c.409C>T (p.Leu137=) c.151C>T (p.Leu51=) n.800C>T | ClinVar dbSNP |
22 | g.50627222G>C | CA412180427 | ARSA | c.409C>G (p.Leu137Val) c.151C>G (p.Leu51Val) n.800C>G | |
22 | g.50627222G>T | CA412180433 | ARSA | c.409C>A (p.Leu137Met) c.151C>A (p.Leu51Met) n.800C>A | |
22 | g.50627222_50627233del | CA658824688 | ARSA | c.398_409del (p.Glu133_Leu137delinsVal) c.140_151del (p.Glu47_Leu51delinsVal) n.789_800del | ClinVar dbSNP |
22 | g.50627223G>A | CA515391434 | ARSA | c.408C>T (p.Phe136=) c.150C>T (p.Phe50=) n.799C>T | |
22 | g.50627223G>C | CA412180438 | ARSA | c.408C>G (p.Phe136Leu) c.150C>G (p.Phe50Leu) n.799C>G | |
22 | g.50627223G>T | CA412180441 | ARSA | c.408C>A (p.Phe136Leu) c.150C>A (p.Phe50Leu) n.799C>A | |
22 | g.50627224A= | CA2410959496 | ARSA | c.407T= (p.Phe136=) c.149T= (p.Phe50=) n.798T= | |
22 | g.50627224A>C | CA412180442 | ARSA | c.407T>G (p.Phe136Cys) c.149T>G (p.Phe50Cys) n.798T>G | |
22 | g.50627224A>G | CA412180443 | ARSA | c.407T>C (p.Phe136Ser) c.149T>C (p.Phe50Ser) n.798T>C | dbSNP |
22 | g.50627224A>T | CA412180444 | ARSA | c.407T>A (p.Phe136Tyr) c.149T>A (p.Phe50Tyr) n.798T>A | |
22 | g.50627225A>C | CA412180449 | ARSA | c.406T>G (p.Phe136Val) c.148T>G (p.Phe50Val) n.797T>G | |
22 | g.50627225A>G | CA412180453 | ARSA | c.406T>C (p.Phe136Leu) c.148T>C (p.Phe50Leu) n.797T>C | gnomAD v4 |
22 | g.50627225A>T | CA412180455 | ARSA | c.406T>A (p.Phe136Ile) c.148T>A (p.Phe50Ile) n.797T>A | |
22 | g.50627232_50627241del | CA2657593850 | ARSA | c.397_406del (p.Glu133SerfsTer12) c.139_148del (p.Glu47SerfsTer12) n.788_797del | gnomAD v4 |
22 | g.50627226G>A | CA515391437 | ARSA | c.405C>T (p.Ala135=) c.147C>T (p.Ala49=) n.796C>T | |
22 | g.50627226G>C | CA515391439 | ARSA | c.405C>G (p.Ala135=) c.147C>G (p.Ala49=) n.796C>G | |
22 | g.50627226G>T | CA515391438 | ARSA | c.405C>A (p.Ala135=) c.147C>A (p.Ala49=) n.796C>A | |
22 | g.50627227G>A | CA412180458 | ARSA | c.404C>T (p.Ala135Val) c.146C>T (p.Ala49Val) n.795C>T | gnomAD v4 |
22 | g.50627227G>C | CA412180463 | ARSA | c.404C>G (p.Ala135Gly) c.146C>G (p.Ala49Gly) n.795C>G | |
22 | g.50627227G= | CA2410959497 | ARSA | c.404C= (p.Ala135=) c.146C= (p.Ala49=) n.795C= | |
22 | g.50627227G>T | CA10325041 | ARSA | c.404C>A (p.Ala135Asp) c.146C>A (p.Ala49Asp) n.795C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50627228C>A | CA412180477 | ARSA | c.403G>T (p.Ala135Ser) c.145G>T (p.Ala49Ser) n.794G>T | |
22 | g.50627228C>G | CA412180473 | ARSA | c.403G>C (p.Ala135Pro) c.145G>C (p.Ala49Pro) n.794G>C | |
22 | g.50627228C>T | CA412180483 | ARSA | c.403G>A (p.Ala135Thr) c.145G>A (p.Ala49Thr) n.794G>A | |
22 | g.50627232del | CA2657593851 | ARSA | c.403del (p.Ala135ProfsTer13) c.145del (p.Ala49ProfsTer13) n.794del | gnomAD v4 |
22 | g.50627229C>A | CA515391443 | ARSA | c.402G>T (p.Gly134=) c.144G>T (p.Gly48=) n.793G>T | gnomAD v4 |