Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.1014223_1014232delinsTCTGAGCATC | CA1148734732 | ISG15 | c.219_228delinsTCTGAGCATC (p.Pro73=) c.243_252delinsTCTGAGCATC (p.Pro81=) | |
1 | g.1014227_1014235del | CA1139655450 | ISG15 | c.223_231del (p.Ser75_Leu77del) c.247_255del (p.Ser83_Leu85del) | ClinVar dbSNP |
1 | g.1014228G>A | CA507658 | ISG15 | c.224G>A (p.Ser75Asn) c.248G>A (p.Ser83Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.1014228G>C | CA16725514 | ISG15 | c.224G>C (p.Ser75Thr) c.248G>C (p.Ser83Thr) | dbSNP |
1 | g.1014228G= | CA1139772605 | ISG15 | c.224G= (p.Ser75=) c.248G= (p.Ser83=) | |
1 | g.1014228G>T | CA337804599 | ISG15 | c.224G>T (p.Ser75Ile) c.248G>T (p.Ser83Ile) | |
1 | g.1014229C>A | CA337804602 | ISG15 | c.225C>A (p.Ser75Arg) c.249C>A (p.Ser83Arg) | |
1 | g.1014229C>G | CA337804605 | ISG15 | c.225C>G (p.Ser75Arg) c.249C>G (p.Ser83Arg) | |
1 | g.1014229C>T | CA415756938 | ISG15 | c.225C>T (p.Ser75=) c.249C>T (p.Ser83=) | |
1 | g.1014230A>C | CA337804609 | ISG15 | c.226A>C (p.Ile76Leu) c.250A>C (p.Ile84Leu) | |
1 | g.1014230A>G | CA337804612 | ISG15 | c.226A>G (p.Ile76Val) c.250A>G (p.Ile84Val) | |
1 | g.1014230A>T | CA337804614 | ISG15 | c.226A>T (p.Ile76Phe) c.250A>T (p.Ile84Phe) | |
1 | g.1014231T>A | CA337804617 | ISG15 | c.227T>A (p.Ile76Asn) c.251T>A (p.Ile84Asn) | gnomAD v4 |
1 | g.1014231T>C | CA337804621 | ISG15 | c.227T>C (p.Ile76Thr) c.251T>C (p.Ile84Thr) | |
1 | g.1014231T>G | CA337804622 | ISG15 | c.227T>G (p.Ile76Ser) c.251T>G (p.Ile84Ser) | |
1 | g.1014232C>A | CA415756950 | ISG15 | c.228C>A (p.Ile76=) c.252C>A (p.Ile84=) | |
1 | g.1014232C>G | CA337804624 | ISG15 | c.228C>G (p.Ile76Met) c.252C>G (p.Ile84Met) | |
1 | g.1014232C>T | CA415756948 | ISG15 | c.228C>T (p.Ile76=) c.252C>T (p.Ile84=) | gnomAD v4 |
1 | g.1014233C>A | CA337804625 | ISG15 | c.229C>A (p.Leu77Met) c.253C>A (p.Leu85Met) | dbSNP gnomAD v4 |
1 | g.1014233C= | CA1148734765 | ISG15 | c.229C= (p.Leu77=) c.253C= (p.Leu85=) | |
1 | g.1014233C>G | CA337804626 | ISG15 | c.229C>G (p.Leu77Val) c.253C>G (p.Leu85Val) | |
1 | g.1014233C>T | CA415756955 | ISG15 | c.229C>T (p.Leu77=) c.253C>T (p.Leu85=) | |
1 | g.1014234T>A | CA337804627 | ISG15 | c.230T>A (p.Leu77Gln) c.254T>A (p.Leu85Gln) | |
1 | g.1014234T>C | CA337804628 | ISG15 | c.230T>C (p.Leu77Pro) c.254T>C (p.Leu85Pro) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.1014234T>G | CA337804630 | ISG15 | c.230T>G (p.Leu77Arg) c.254T>G (p.Leu85Arg) | |
1 | g.1014234T= | CA1148734782 | ISG15 | c.230T= (p.Leu77=) c.254T= (p.Leu85=) | |
1 | g.1014234_1014235delinsTG | CA1148734784 | ISG15 | c.230_231delinsTG (p.Leu77=) c.254_255delinsTG (p.Leu85=) | |
1 | g.1014235G>A | CA415756960 | ISG15 | c.231G>A (p.Leu77=) c.255G>A (p.Leu85=) | |
1 | g.1014235G>C | CA415756961 | ISG15 | c.231G>C (p.Leu77=) c.255G>C (p.Leu85=) | |
1 | g.1014235G>T | CA415756964 | ISG15 | c.231G>T (p.Leu77=) c.255G>T (p.Leu85=) | |
1 | g.1014236del | CA520625479 | ISG15 | c.232del (p.Val78Ter) c.256del (p.Val86Ter) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.1014236G>A | CA337804632 | ISG15 | c.232G>A (p.Val78Met) c.256G>A (p.Val86Met) | ClinVar dbSNP |
1 | g.1014236G>C | CA337804634 | ISG15 | c.232G>C (p.Val78Leu) c.256G>C (p.Val86Leu) | gnomAD v4 |
1 | g.1014236G= | CA1148734815 | ISG15 | c.232G= (p.Val78=) c.256G= (p.Val86=) | |
1 | g.1014236G>T | CA337804636 | ISG15 | c.232G>T (p.Val78Leu) c.256G>T (p.Val86Leu) | |
1 | g.1014237T>A | CA337804661 | ISG15 | c.233T>A (p.Val78Glu) c.257T>A (p.Val86Glu) | |
1 | g.1014237T>C | CA337804662 | ISG15 | c.233T>C (p.Val78Ala) c.257T>C (p.Val86Ala) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.1014237T>G | CA337804663 | ISG15 | c.233T>G (p.Val78Gly) c.257T>G (p.Val86Gly) | gnomAD v4 |
1 | g.1014237T= | CA1148734818 | ISG15 | c.233T= (p.Val78=) c.257T= (p.Val86=) | |
1 | g.1014238G>A | CA415756974 | ISG15 | c.234G>A (p.Val78=) c.258G>A (p.Val86=) | gnomAD v4 |
1 | g.1014238G>C | CA415756975 | ISG15 | c.234G>C (p.Val78=) c.258G>C (p.Val86=) | |
1 | g.1014238G>T | CA415756976 | ISG15 | c.234G>T (p.Val78=) c.258G>T (p.Val86=) | |
1 | g.1014239A>C | CA415756983 | ISG15 | c.235A>C (p.Arg79=) c.259A>C (p.Arg87=) | |
1 | g.1014239A>G | CA337804664 | ISG15 | c.235A>G (p.Arg79Gly) c.259A>G (p.Arg87Gly) | |
1 | g.1014239A>T | CA337804665 | ISG15 | c.235A>T (p.Arg79Trp) c.259A>T (p.Arg87Trp) | |
1 | g.1014240G>A | CA337804666 | ISG15 | c.236G>A (p.Arg79Lys) c.260G>A (p.Arg87Lys) | gnomAD v4 |
1 | g.1014240G>C | CA337804667 | ISG15 | c.236G>C (p.Arg79Thr) c.260G>C (p.Arg87Thr) | |
1 | g.1014240G>T | CA337804668 | ISG15 | c.236G>T (p.Arg79Met) c.260G>T (p.Arg87Met) | |
1 | g.1014241G>A | CA415756984 | ISG15 | c.237G>A (p.Arg79=) c.261G>A (p.Arg87=) | |
1 | g.1014241G>C | CA337804669 | ISG15 | c.237G>C (p.Arg79Ser) c.261G>C (p.Arg87Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |