Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
22 | g.50626226_50626302del | CA2657592490 | ARSA | c.855-24_907del c.597-24_649del | ClinVar gnomAD v4 |
22 | g.50626263_50626268del | CA2697552824 | ARSA | c.868_873del (p.Arg290_Met291del) c.610_615del (p.Arg204_Met205del) | ClinVar |
22 | g.50626261A= | CA2410958950 | ARSA | c.872T= (p.Met291=) c.614T= (p.Met205=) | |
22 | g.50626261A>C | CA412175014 | ARSA | c.872T>G (p.Met291Arg) c.614T>G (p.Met205Arg) | |
22 | g.50626261A>G | CA412175015 | ARSA | c.872T>C (p.Met291Thr) c.614T>C (p.Met205Thr) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50626261A>T | CA412175018 | ARSA | c.872T>A (p.Met291Lys) c.614T>A (p.Met205Lys) | |
22 | g.50626262T>A | CA412175024 | ARSA | c.871A>T (p.Met291Leu) c.613A>T (p.Met205Leu) | |
22 | g.50626262T>C | CA412175029 | ARSA | c.871A>G (p.Met291Val) c.613A>G (p.Met205Val) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.50626262T>G | CA412175032 | ARSA | c.871A>C (p.Met291Leu) c.613A>C (p.Met205Leu) | |
22 | g.50626262T= | CA2410958951 | ARSA | c.871A= (p.Met291=) c.613A= (p.Met205=) | |
22 | g.50626263A= | CA2410958952 | ARSA | c.870T= (p.Arg290=) c.612T= (p.Arg204=) | |
22 | g.50626263A>C | CA515249005 | ARSA | c.870T>G (p.Arg290=) c.612T>G (p.Arg204=) | |
22 | g.50626263A>G | CA515249006 | ARSA | c.870T>C (p.Arg290=) c.612T>C (p.Arg204=) | ClinVar dbSNP |
22 | g.50626263A>T | CA515249004 | ARSA | c.870T>A (p.Arg290=) c.612T>A (p.Arg204=) | |
22 | g.50626264C>A | CA412175036 | ARSA | c.869G>T (p.Arg290Leu) c.611G>T (p.Arg204Leu) | ClinVar gnomAD v4 |
22 | g.50626264C= | CA2410958953 | ARSA | c.869G= (p.Arg290=) c.611G= (p.Arg204=) | |
22 | g.50626264C>G | CA412175040 | ARSA | c.869G>C (p.Arg290Pro) c.611G>C (p.Arg204Pro) | ClinVar |
22 | g.50626264C>T | CA219062 | ARSA | c.869G>A (p.Arg290His) c.611G>A (p.Arg204His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50626265G>A | CA278036 | ARSA | c.868C>T (p.Arg290Cys) c.610C>T (p.Arg204Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50626265G>C | CA412175055 | ARSA | c.868C>G (p.Arg290Gly) c.610C>G (p.Arg204Gly) | ClinVar |
22 | g.50626265G= | CA2410958954 | ARSA | c.868C= (p.Arg290=) c.610C= (p.Arg204=) | |
22 | g.50626265G>T | CA412175058 | ARSA | c.868C>A (p.Arg290Ser) c.610C>A (p.Arg204Ser) | |
22 | g.50626266C>A | CA412175064 | ARSA | c.867G>T (p.Met289Ile) c.609G>T (p.Met203Ile) | |
22 | g.50626266C= | CA2410958955 | ARSA | c.867G= (p.Met289=) c.609G= (p.Met203=) | |
22 | g.50626266C>G | CA412175071 | ARSA | c.867G>C (p.Met289Ile) c.609G>C (p.Met203Ile) | |
22 | g.50626266C>T | CA10324890 | ARSA | c.867G>A (p.Met289Ile) c.609G>A (p.Met203Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50626267A= | CA2410958956 | ARSA | c.866T= (p.Met289=) c.608T= (p.Met203=) | |
22 | g.50626267A>C | CA412175076 | ARSA | c.866T>G (p.Met289Arg) c.608T>G (p.Met203Arg) | gnomAD v4 |
22 | g.50626267A>G | CA10324891 | ARSA | c.866T>C (p.Met289Thr) c.608T>C (p.Met203Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50626267A>T | CA412175080 | ARSA | c.866T>A (p.Met289Lys) c.608T>A (p.Met203Lys) | |
22 | g.50626268T>A | CA412175096 | ARSA | c.865A>T (p.Met289Leu) c.607A>T (p.Met203Leu) | |
22 | g.50626268T>C | CA412175101 | ARSA | c.865A>G (p.Met289Val) c.607A>G (p.Met203Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50626268T>G | CA412175106 | ARSA | c.865A>C (p.Met289Leu) c.607A>C (p.Met203Leu) | |
22 | g.50626268T= | CA2410958957 | ARSA | c.865A= (p.Met289=) c.607A= (p.Met203=) | |
22 | g.50626269G>A | CA515249007 | ARSA | c.864C>T (p.Thr288=) c.606C>T (p.Thr202=) | |
22 | g.50626269G>C | CA515249008 | ARSA | c.864C>G (p.Thr288=) c.606C>G (p.Thr202=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
22 | g.50626269G= | CA2410958958 | ARSA | c.864C= (p.Thr288=) c.606C= (p.Thr202=) | |
22 | g.50626269G>T | CA515249009 | ARSA | c.864C>A (p.Thr288=) c.606C>A (p.Thr202=) | |
22 | g.50626270G>A | CA412175111 | ARSA | c.863C>T (p.Thr288Ile) c.605C>T (p.Thr202Ile) | |
22 | g.50626270G>C | CA412175112 | ARSA | c.863C>G (p.Thr288Ser) c.605C>G (p.Thr202Ser) | |
22 | g.50626270G= | CA2410958959 | ARSA | c.863C= (p.Thr288=) c.605C= (p.Thr202=) | |
22 | g.50626270G>T | CA412175113 | ARSA | c.863C>A (p.Thr288Asn) c.605C>A (p.Thr202Asn) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50626271T>A | CA412175116 | ARSA | c.862A>T (p.Thr288Ser) c.604A>T (p.Thr202Ser) | |
22 | g.50626271T>C | CA412175117 | ARSA | c.862A>G (p.Thr288Ala) c.604A>G (p.Thr202Ala) | |
22 | g.50626271T>G | CA116005 | ARSA | c.862A>C (p.Thr288Pro) c.604A>C (p.Thr202Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50626271T= | CA2410958960 | ARSA | c.862A= (p.Thr288=) c.604A= (p.Thr202=) | |
22 | g.50626272C>A | CA412175143 | ARSA | c.861G>T (p.Glu287Asp) c.603G>T (p.Glu201Asp) | |
22 | g.50626272C>G | CA412175149 | ARSA | c.861G>C (p.Glu287Asp) c.603G>C (p.Glu201Asp) | gnomAD v4 |
22 | g.50626272C>T | CA515249010 | ARSA | c.861G>A (p.Glu287=) c.603G>A (p.Glu201=) | ClinVar dbSNP |
22 | g.50626273T>A | CA412175172 | ARSA | c.860A>T (p.Glu287Val) c.602A>T (p.Glu201Val) |