Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
22 | g.50627175G>A | CA515391324 | ARSA | c.456C>T (p.Ser152=) c.198C>T (p.Ser66=) n.847C>T | dbSNP gnomAD v2 |
22 | g.50627175G>C | CA515391326 | ARSA | c.456C>G (p.Ser152=) c.198C>G (p.Ser66=) n.847C>G | |
22 | g.50627175G= | CA2410959469 | ARSA | c.456C= (p.Ser152=) c.198C= (p.Ser66=) n.847C= | |
22 | g.50627175G>T | CA515391328 | ARSA | c.456C>A (p.Ser152=) c.198C>A (p.Ser66=) n.847C>A | |
22 | g.50627176G>A | CA412180002 | ARSA | c.455C>T (p.Ser152Phe) c.197C>T (p.Ser66Phe) n.846C>T | gnomAD v4 |
22 | g.50627176G>C | CA412180009 | ARSA | c.455C>G (p.Ser152Cys) c.197C>G (p.Ser66Cys) n.846C>G | ClinVar |
22 | g.50627176G>T | CA412180013 | ARSA | c.455C>A (p.Ser152Tyr) c.197C>A (p.Ser66Tyr) n.846C>A | |
22 | g.50627177A= | CA2410959470 | ARSA | c.454T= (p.Ser152=) c.196T= (p.Ser66=) n.845T= | |
22 | g.50627177A>C | CA412180019 | ARSA | c.454T>G (p.Ser152Ala) c.196T>G (p.Ser66Ala) n.845T>G | |
22 | g.50627177A>G | CA412180025 | ARSA | c.454T>C (p.Ser152Pro) c.196T>C (p.Ser66Pro) n.845T>C | ClinVar |
22 | g.50627177A>T | CA10325031 | ARSA | c.454T>A (p.Ser152Thr) c.196T>A (p.Ser66Thr) n.845T>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50627178G>A | CA515391337 | ARSA | c.453C>T (p.Tyr151=) c.195C>T (p.Tyr65=) n.844C>T | |
22 | g.50627178G>C | CA412180035 | ARSA | c.453C>G (p.Tyr151Ter) c.195C>G (p.Tyr65Ter) n.844C>G | dbSNP |
22 | g.50627178G= | CA2410959471 | ARSA | c.453C= (p.Tyr151=) c.195C= (p.Tyr65=) n.844C= | |
22 | g.50627178G>T | CA412180032 | ARSA | c.453C>A (p.Tyr151Ter) c.195C>A (p.Tyr65Ter) n.844C>A | |
22 | g.50627179T>A | CA412180039 | ARSA | c.452A>T (p.Tyr151Phe) c.194A>T (p.Tyr65Phe) n.843A>T | |
22 | g.50627179T>C | CA412180043 | ARSA | c.452A>G (p.Tyr151Cys) c.194A>G (p.Tyr65Cys) n.843A>G | |
22 | g.50627179T>G | CA412180046 | ARSA | c.452A>C (p.Tyr151Ser) c.194A>C (p.Tyr65Ser) n.843A>C | |
22 | g.50627179T= | CA2410959472 | ARSA | c.452A= (p.Tyr151=) c.194A= (p.Tyr65=) n.843A= | |
22 | g.50627180A>C | CA412180051 | ARSA | c.451T>G (p.Tyr151Asp) c.193T>G (p.Tyr65Asp) n.842T>G | |
22 | g.50627180A>G | CA412180055 | ARSA | c.451T>C (p.Tyr151His) c.193T>C (p.Tyr65His) n.842T>C | |
22 | g.50627180A>T | CA412180057 | ARSA | c.451T>A (p.Tyr151Asn) c.193T>A (p.Tyr65Asn) n.842T>A | |
22 | g.50627180dup | CA1139667181 | ARSA | c.451dup (p.Tyr151LeufsTer25) c.193dup (p.Tyr65LeufsTer25) n.842dup | ClinVar dbSNP |
22 | g.50627181C>A | CA515391351 | ARSA | c.450G>T (p.Pro150=) c.192G>T (p.Pro64=) n.841G>T | |
22 | g.50627181C= | CA2410959473 | ARSA | c.450G= (p.Pro150=) c.192G= (p.Pro64=) n.841G= | |
22 | g.50627181C>G | CA515391352 | ARSA | c.450G>C (p.Pro150=) c.192G>C (p.Pro64=) n.841G>C | |
22 | g.50627181C>T | CA515391353 | ARSA | c.450G>A (p.Pro150=) c.192G>A (p.Pro64=) n.841G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
22 | g.50627182G>A | CA219024 | ARSA | c.449C>T (p.Pro150Leu) c.191C>T (p.Pro64Leu) n.840C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50627182G>C | CA412180061 | ARSA | c.449C>G (p.Pro150Arg) c.191C>G (p.Pro64Arg) n.840C>G | ClinVar dbSNP |
22 | g.50627182G= | CA2410959474 | ARSA | c.449C= (p.Pro150=) c.191C= (p.Pro64=) n.840C= | |
22 | g.50627182G>T | CA412180064 | ARSA | c.449C>A (p.Pro150Gln) c.191C>A (p.Pro64Gln) n.840C>A | gnomAD v4 |
22 | g.50627182_50627183delinsAA | CA645612061 | ARSA | c.448_449delinsTT (p.Pro150Leu) c.190_191delinsTT (p.Pro64Leu) n.839_840delinsTT | COSMIC |
22 | g.50627183G>A | CA412180070 | ARSA | c.448C>T (p.Pro150Ser) c.190C>T (p.Pro64Ser) n.839C>T | ClinVar dbSNP gnomAD v4 |
22 | g.50627183G>C | CA412180073 | ARSA | c.448C>G (p.Pro150Ala) c.190C>G (p.Pro64Ala) n.839C>G | |
22 | g.50627183G= | CA2410959475 | ARSA | c.448C= (p.Pro150=) c.190C= (p.Pro64=) n.839C= | |
22 | g.50627183G>T | CA412180076 | ARSA | c.448C>A (p.Pro150Thr) c.190C>A (p.Pro64Thr) n.839C>A | |
22 | g.50627184G>A | CA515391357 | ARSA | c.447C>T (p.Ile149=) c.189C>T (p.Ile63=) n.838C>T | |
22 | g.50627184G>C | CA412180080 | ARSA | c.447C>G (p.Ile149Met) c.189C>G (p.Ile63Met) n.838C>G | |
22 | g.50627184G>T | CA515391359 | ARSA | c.447C>A (p.Ile149=) c.189C>A (p.Ile63=) n.838C>A | |
22 | g.50627185A= | CA2410959476 | ARSA | c.446T= (p.Ile149=) c.188T= (p.Ile63=) n.837T= | |
22 | g.50627185A>C | CA412180085 | ARSA | c.446T>G (p.Ile149Ser) c.188T>G (p.Ile63Ser) n.837T>G | |
22 | g.50627185A>G | CA412180088 | ARSA | c.446T>C (p.Ile149Thr) c.188T>C (p.Ile63Thr) n.837T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
22 | g.50627185A>T | CA412180091 | ARSA | c.446T>A (p.Ile149Asn) c.188T>A (p.Ile63Asn) n.837T>A | |
22 | g.50627186T>A | CA412180096 | ARSA | c.445A>T (p.Ile149Phe) c.187A>T (p.Ile63Phe) n.836A>T | |
22 | g.50627186T>C | CA412180099 | ARSA | c.445A>G (p.Ile149Val) c.187A>G (p.Ile63Val) n.836A>G | |
22 | g.50627186T>G | CA412180101 | ARSA | c.445A>C (p.Ile149Leu) c.187A>C (p.Ile63Leu) n.836A>C | |
22 | g.50627187G>A | CA515391365 | ARSA | c.444C>T (p.Gly148=) c.186C>T (p.Gly62=) n.835C>T | |
22 | g.50627187G>C | CA515391366 | ARSA | c.444C>G (p.Gly148=) c.186C>G (p.Gly62=) n.835C>G | |
22 | g.50627187G>T | CA515391368 | ARSA | c.444C>A (p.Gly148=) c.186C>A (p.Gly62=) n.835C>A | |
22 | g.50627188C>A | CA412180105 | ARSA | c.443G>T (p.Gly148Val) c.185G>T (p.Gly62Val) n.834G>T |