| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.78780442_78780465delinsGGGGTCCTGTGCAGGGAAGTACAC | CA1557615332 | ARSB | c.1534_1557delinsGTGTACTTCCCTGCACAGGACCCC (p.Val512=) n.499_522delinsGTGTACTTCCCTGCACAGGACCCC | |
| 5 | g.78780446_78780468del | CA560770412 | ARSB | c.1534_1556del (p.Val512ProfsTer3) n.499_521del | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.78780449T>A | CA360338874 | ARSB | c.1550A>T (p.Gln517Leu) n.515A>T | |
| 5 | g.78780449T>C | CA360338873 | ARSB | c.1550A>G (p.Gln517Arg) n.515A>G | |
| 5 | g.78780449T>G | CA360338872 | ARSB | c.1550A>C (p.Gln517Pro) n.515A>C | |
| 5 | g.78780450G>A | CA360338875 | ARSB | c.1549C>T (p.Gln517Ter) n.514C>T | |
| 5 | g.78780450G>C | CA360338876 | ARSB | c.1549C>G (p.Gln517Glu) n.514C>G | |
| 5 | g.78780450G>T | CA360338877 | ARSB | c.1549C>A (p.Gln517Lys) n.514C>A | |
| 5 | g.78780451T>A | CA445400286 | ARSB | c.1548A>T (p.Ala516=) n.513A>T | |
| 5 | g.78780451T>C | CA445400285 | ARSB | c.1548A>G (p.Ala516=) n.513A>G | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.78780451T>G | CA445400284 | ARSB | c.1548A>C (p.Ala516=) n.513A>C | ClinVar dbSNP |
| 5 | g.78780451T= | CA1557615345 | ARSB | c.1548A= (p.Ala516=) n.513A= | |
| 5 | g.78780452G>A | CA3317961 | ARSB | c.1547C>T (p.Ala516Val) n.512C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.78780452G>C | CA360338878 | ARSB | c.1547C>G (p.Ala516Gly) n.512C>G | |
| 5 | g.78780452G= | CA1557615349 | ARSB | c.1547C= (p.Ala516=) n.512C= | |
| 5 | g.78780452G>T | CA360338879 | ARSB | c.1547C>A (p.Ala516Glu) n.512C>A | |
| 5 | g.78780453C>A | CA360338880 | ARSB | c.1546G>T (p.Ala516Ser) n.511G>T | dbSNP |
| 5 | g.78780453C= | CA1557615357 | ARSB | c.1546G= (p.Ala516=) n.511G= | |
| 5 | g.78780453C>G | CA360338881 | ARSB | c.1546G>C (p.Ala516Pro) n.511G>C | |
| 5 | g.78780453C>T | CA3317962 | ARSB | c.1546G>A (p.Ala516Thr) n.511G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.78780454A= | CA1557615362 | ARSB | c.1545T= (p.Pro515=) n.510T= | |
| 5 | g.78780454A>C | CA3317963 | ARSB | c.1545T>G (p.Pro515=) n.510T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.78780454A>G | CA445400293 | ARSB | c.1545T>C (p.Pro515=) n.510T>C | |
| 5 | g.78780454A>T | CA445400292 | ARSB | c.1545T>A (p.Pro515=) n.510T>A | |
| 5 | g.78780455G>A | CA360338882 | ARSB | c.1544C>T (p.Pro515Leu) n.509C>T | |
| 5 | g.78780455G>C | CA360338883 | ARSB | c.1544C>G (p.Pro515Arg) n.509C>G | |
| 5 | g.78780455G>T | CA360338884 | ARSB | c.1544C>A (p.Pro515His) n.509C>A | |
| 5 | g.78780456G>A | CA121679131 | ARSB | c.1543C>T (p.Pro515Ser) n.508C>T | dbSNP |
| 5 | g.78780456G>C | CA360338886 | ARSB | c.1543C>G (p.Pro515Ala) n.508C>G | |
| 5 | g.78780456G= | CA1557615365 | ARSB | c.1543C= (p.Pro515=) n.508C= | |
| 5 | g.78780456G>T | CA360338885 | ARSB | c.1543C>A (p.Pro515Thr) n.508C>A | |
| 5 | g.78780457G>A | CA121679132 | ARSB | c.1542C>T (p.Phe514=) n.507C>T | dbSNP |
| 5 | g.78780457G>C | CA360338888 | ARSB | c.1542C>G (p.Phe514Leu) n.507C>G | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.78780457G= | CA1557615369 | ARSB | c.1542C= (p.Phe514=) n.507C= | |
| 5 | g.78780457G>T | CA360338887 | ARSB | c.1542C>A (p.Phe514Leu) n.507C>A | |
| 5 | g.78780458A>C | CA360338889 | ARSB | c.1541T>G (p.Phe514Cys) n.506T>G | gnomAD v4 |
| 5 | g.78780458A>G | CA360338890 | ARSB | c.1541T>C (p.Phe514Ser) n.506T>C | |
| 5 | g.78780458A>T | CA360338891 | ARSB | c.1541T>A (p.Phe514Tyr) n.506T>A | |
| 5 | g.78780459A>C | CA360338892 | ARSB | c.1540T>G (p.Phe514Val) n.505T>G | gnomAD v4 |
| 5 | g.78780459A>G | CA360338893 | ARSB | c.1540T>C (p.Phe514Leu) n.505T>C | |
| 5 | g.78780459A>T | CA360338894 | ARSB | c.1540T>A (p.Phe514Ile) n.505T>A | |
| 5 | g.78780460G>A | CA445400306 | ARSB | c.1539C>T (p.Tyr513=) n.504C>T | |
| 5 | g.78780460G>C | CA360338895 | ARSB | c.1539C>G (p.Tyr513Ter) n.504C>G | ClinVar dbSNP |
| 5 | g.78780460G= | CA1557615380 | ARSB | c.1539C= (p.Tyr513=) n.504C= | |
| 5 | g.78780460G>T | CA360338896 | ARSB | c.1539C>A (p.Tyr513Ter) n.504C>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.78780461T>A | CA360338897 | ARSB | c.1538A>T (p.Tyr513Phe) n.503A>T | |
| 5 | g.78780461T>C | CA360338898 | ARSB | c.1538A>G (p.Tyr513Cys) n.503A>G | COSMIC |
| 5 | g.78780461T>G | CA360338899 | ARSB | c.1538A>C (p.Tyr513Ser) n.503A>C | |
| 5 | g.78780462A= | CA1557615391 | ARSB | c.1537T= (p.Tyr513=) n.502T= | |
| 5 | g.78780462A>C | CA360338901 | ARSB | c.1537T>G (p.Tyr513Asp) n.502T>G |