Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.1014050_1014150del | CA2642487406 | ISG15 | c.46_146del (p.Ser16GlyfsTer?) c.70_170del (p.Ser24GlyfsTer?) | gnomAD v4 |
1 | g.1014128A>C | CA337803975 | ISG15 | c.124A>C (p.Ser42Arg) c.148A>C (p.Ser50Arg) | |
1 | g.1014128A>G | CA337803978 | ISG15 | c.124A>G (p.Ser42Gly) c.148A>G (p.Ser50Gly) | |
1 | g.1014128A>T | CA337803981 | ISG15 | c.124A>T (p.Ser42Cys) c.148A>T (p.Ser50Cys) | |
1 | g.1014129G>A | CA337803999 | ISG15 | c.125G>A (p.Ser42Asn) c.149G>A (p.Ser50Asn) | |
1 | g.1014129G>C | CA337803998 | ISG15 | c.125G>C (p.Ser42Thr) c.149G>C (p.Ser50Thr) | |
1 | g.1014129G>T | CA337803996 | ISG15 | c.125G>T (p.Ser42Ile) c.149G>T (p.Ser50Ile) | |
1 | g.1014130C>A | CA337804001 | ISG15 | c.126C>A (p.Ser42Arg) c.150C>A (p.Ser50Arg) | |
1 | g.1014130C= | CA1143930946 | ISG15 | c.126C= (p.Ser42=) c.150C= (p.Ser50=) | |
1 | g.1014130C>G | CA507633 | ISG15 | c.126C>G (p.Ser42Arg) c.150C>G (p.Ser50Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.1014130C>T | CA507634 | ISG15 | c.126C>T (p.Ser42=) c.150C>T (p.Ser50=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.1014131G>A | CA507636 | ISG15 | c.127G>A (p.Gly43Ser) c.151G>A (p.Gly51Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.1014131G>C | CA337804012 | ISG15 | c.127G>C (p.Gly43Arg) c.151G>C (p.Gly51Arg) | dbSNP |
1 | g.1014131G= | CA1141684773 | ISG15 | c.127G= (p.Gly43=) c.151G= (p.Gly51=) | |
1 | g.1014131G>T | CA507635 | ISG15 | c.127G>T (p.Gly43Cys) c.151G>T (p.Gly51Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.1014132G>A | CA337804017 | ISG15 | c.128G>A (p.Gly43Asp) c.152G>A (p.Gly51Asp) | |
1 | g.1014132G>C | CA337804019 | ISG15 | c.128G>C (p.Gly43Ala) c.152G>C (p.Gly51Ala) | |
1 | g.1014132G>T | CA337804021 | ISG15 | c.128G>T (p.Gly43Val) c.152G>T (p.Gly51Val) | |
1 | g.1014133T>A | CA415756397 | ISG15 | c.129T>A (p.Gly43=) c.153T>A (p.Gly51=) | |
1 | g.1014133T>C | CA415756398 | ISG15 | c.129T>C (p.Gly43=) c.153T>C (p.Gly51=) | |
1 | g.1014133T>G | CA415756399 | ISG15 | c.129T>G (p.Gly43=) c.153T>G (p.Gly51=) | |
1 | g.1014134G>A | CA337804023 | ISG15 | c.130G>A (p.Val44Met) c.154G>A (p.Val52Met) | |
1 | g.1014134G>C | CA337804025 | ISG15 | c.130G>C (p.Val44Leu) c.154G>C (p.Val52Leu) | |
1 | g.1014134G>T | CA337804027 | ISG15 | c.130G>T (p.Val44Leu) c.154G>T (p.Val52Leu) | |
1 | g.1014135T>A | CA337804034 | ISG15 | c.131T>A (p.Val44Glu) c.155T>A (p.Val52Glu) | |
1 | g.1014135T>C | CA337804035 | ISG15 | c.131T>C (p.Val44Ala) c.155T>C (p.Val52Ala) | dbSNP |
1 | g.1014135T>G | CA337804032 | ISG15 | c.131T>G (p.Val44Gly) c.155T>G (p.Val52Gly) | |
1 | g.1014135T= | CA1148734286 | ISG15 | c.131T= (p.Val44=) c.155T= (p.Val52=) | |
1 | g.1014136G>A | CA415756404 | ISG15 | c.132G>A (p.Val44=) c.156G>A (p.Val52=) | |
1 | g.1014136G>C | CA415756406 | ISG15 | c.132G>C (p.Val44=) c.156G>C (p.Val52=) | |
1 | g.1014136G>T | CA415756407 | ISG15 | c.132G>T (p.Val44=) c.156G>T (p.Val52=) | |
1 | g.1014137G>A | CA337804041 | ISG15 | c.133G>A (p.Ala45Thr) c.157G>A (p.Ala53Thr) | |
1 | g.1014137G>C | CA337804038 | ISG15 | c.133G>C (p.Ala45Pro) c.157G>C (p.Ala53Pro) | |
1 | g.1014137G>T | CA337804040 | ISG15 | c.133G>T (p.Ala45Ser) c.157G>T (p.Ala53Ser) | |
1 | g.1014138C>A | CA337804045 | ISG15 | c.134C>A (p.Ala45Glu) c.158C>A (p.Ala53Glu) | |
1 | g.1014138C= | CA1142091738 | ISG15 | c.134C= (p.Ala45=) c.158C= (p.Ala53=) | |
1 | g.1014138C>G | CA337804047 | ISG15 | c.134C>G (p.Ala45Gly) c.158C>G (p.Ala53Gly) | |
1 | g.1014138C>T | CA507637 | ISG15 | c.134C>T (p.Ala45Val) c.158C>T (p.Ala53Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.1014139G>A | CA415756415 | ISG15 | c.135G>A (p.Ala45=) c.159G>A (p.Ala53=) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
1 | g.1014139G>C | CA415756417 | ISG15 | c.135G>C (p.Ala45=) c.159G>C (p.Ala53=) | |
1 | g.1014139G= | CA1148734291 | ISG15 | c.135G= (p.Ala45=) c.159G= (p.Ala53=) | |
1 | g.1014139G>T | CA415756419 | ISG15 | c.135G>T (p.Ala45=) c.159G>T (p.Ala53=) | gnomAD v4 |
1 | g.1014140C>A | CA337804054 | ISG15 | c.136C>A (p.Leu46Met) c.160C>A (p.Leu54Met) | |
1 | g.1014140C= | CA1148734297 | ISG15 | c.136C= (p.Leu46=) c.160C= (p.Leu54=) | |
1 | g.1014140C>G | CA337804056 | ISG15 | c.136C>G (p.Leu46Val) c.160C>G (p.Leu54Val) | |
1 | g.1014140C>T | CA415756420 | ISG15 | c.136C>T (p.Leu46=) c.160C>T (p.Leu54=) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.1014140dup | CA997657685 | ISG15 | c.136dup (p.Leu46ProfsTer?) c.160dup (p.Leu54ProfsTer?) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.1014141T>A | CA337804078 | ISG15 | c.137T>A (p.Leu46Gln) c.161T>A (p.Leu54Gln) | |
1 | g.1014141T>C | CA337804079 | ISG15 | c.137T>C (p.Leu46Pro) c.161T>C (p.Leu54Pro) | |
1 | g.1014141T>G | CA337804080 | ISG15 | c.137T>G (p.Leu46Arg) c.161T>G (p.Leu54Arg) |