| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.137198285_137198311del | CA4018791 | IFNGR1 | c.1174_1200del (p.Cys392_Asn400del) c.1102_1128del (p.Cys368_Asn376del) c.1081_1107del (p.Cys361_Asn369del) c.*302_*328del (n.*302_*328del) c.1042_1068del (p.Cys348_Asn356del) c.*1103_*1129del (n.*1103_*1129del) c.1150_1176del (p.Cys384_Asn392del) c.1204_1230del (p.Cys402_Asn410del) c.1147_1173del (p.Cys383_Asn391del) c.1324_1350del (n.1324_1350del) c.1313_1339del c.*375_*401del (n.*375_*401del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.137198285_137198311dup | CA230503 | IFNGR1 | c.1174_1200dup (p.Asn400_Gly401insCysSerGluSerAspHisSerArgAsn) c.1102_1128dup (p.Asn376_Gly377insCysSerGluSerAspHisSerArgAsn) c.1081_1107dup (p.Asn369_Gly370insCysSerGluSerAspHisSerArgAsn) c.*302_*328dup (n.*302_*328dup) c.1042_1068dup (p.Asn356_Gly357insCysSerGluSerAspHisSerArgAsn) c.*1103_*1129dup (n.*1103_*1129dup) c.1150_1176dup (p.Asn392_Gly393insCysSerGluSerAspHisSerArgAsn) c.1204_1230dup (p.Asn410_Gly411insCysSerGluSerAspHisSerArgAsn) c.1147_1173dup (p.Asn391_Gly392insCysSerGluSerAspHisSerArgAsn) c.1324_1350dup (n.1324_1350dup) c.1313_1339dup c.*375_*401dup (n.*375_*401dup) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |