UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.24717176_24717195del | CA1695068833 | GSDME | c.697+64_697+83del (n.697+64_697+83del) c.205+64_205+83del (n.205+64_205+83del) n.466+64_466+83del c.171+64_171+83del n.392+64_392+83del c.466+64_466+83del (n.466+64_466+83del) c.63+64_63+83del n.780_799del | dbSNP gnomAD v4 |
| 7 | g.24717187_24717223delinsGTCAAGTCCCTCTGCTGAGGGATCCTCTGCTGGGGAT | CA1695068845 | GSDME | c.697+31_697+67delinsATCCCCAGCAGAGGATCCCTCAGCAGAGGGACTTGAC (n.697+31_697+67delinsATCCCCAGCAGAGGATCCCTCAGCAGAGGGACTTGAC) c.205+31_205+67delinsATCCCCAGCAGAGGATCCCTCAGCAGAGGGACTTGAC (n.205+31_205+67delinsATCCCCAGCAGAGGATCCCTCAGCAGAGGGACTTGAC) n.466+31_466+67delinsATCCCCAGCAGAGGATCCCTCAGCAGAGGGACTTGAC c.171+31_171+67delinsATCCCCAGCAGAGGATCCCTCAGCAGAGGGACTTGAC n.392+31_392+67delinsATCCCCAGCAGAGGATCCCTCAGCAGAGGGACTTGAC c.466+31_466+67delinsATCCCCAGCAGAGGATCCCTCAGCAGAGGGACTTGAC (n.466+31_466+67delinsATCCCCAGCAGAGGATCCCTCAGCAGAGGGACTTGAC) c.63+31_63+67delinsATCCCCAGCAGAGGATCCCTCAGCAGAGGGACTTGAC n.747_783delinsATCCCCAGCAGAGGATCCCTCAGCAGAGGGACTTGAC | |
| 7 | g.24717188_24717223del | CA836950362 | GSDME | c.697+31_697+66del (n.697+31_697+66del) c.205+31_205+66del (n.205+31_205+66del) n.466+31_466+66del c.171+31_171+66del n.392+31_392+66del c.466+31_466+66del (n.466+31_466+66del) c.63+31_63+66del n.747_782del | dbSNP |
| 7 | g.24717191_24717220dup | CA2682082147 | GSDME | c.697+34_697+63dup (n.697+34_697+63dup) c.205+34_205+63dup (n.205+34_205+63dup) n.466+34_466+63dup c.171+34_171+63dup n.392+34_392+63dup c.466+34_466+63dup (n.466+34_466+63dup) c.63+34_63+63dup n.750_779dup | gnomAD v4 |
| 7 | g.24717193_24717194insGCCTCTGCTGAGGGATCCTCTGCTGGGGGT | CA2682082171 | GSDME | c.697+62_697+63insCCCCAGCAGAGGATCCCTCAGCAGAGGCAC (n.697+62_697+63insCCCCAGCAGAGGATCCCTCAGCAGAGGCAC) c.205+62_205+63insCCCCAGCAGAGGATCCCTCAGCAGAGGCAC (n.205+62_205+63insCCCCAGCAGAGGATCCCTCAGCAGAGGCAC) n.466+62_466+63insCCCCAGCAGAGGATCCCTCAGCAGAGGCAC c.171+62_171+63insCCCCAGCAGAGGATCCCTCAGCAGAGGCAC n.392+62_392+63insCCCCAGCAGAGGATCCCTCAGCAGAGGCAC c.466+62_466+63insCCCCAGCAGAGGATCCCTCAGCAGAGGCAC (n.466+62_466+63insCCCCAGCAGAGGATCCCTCAGCAGAGGCAC) c.63+62_63+63insCCCCAGCAGAGGATCCCTCAGCAGAGGCAC n.778_779insCCCCAGCAGAGGATCCCTCAGCAGAGGCAC | gnomAD v4 |
| 7 | g.24717193_24717194insACCTCTGCTGAGGGATCCTCTGCTGGGGGT | CA2682082198 | GSDME | c.697+62_697+63insCCCCAGCAGAGGATCCCTCAGCAGAGGTAC (n.697+62_697+63insCCCCAGCAGAGGATCCCTCAGCAGAGGTAC) c.205+62_205+63insCCCCAGCAGAGGATCCCTCAGCAGAGGTAC (n.205+62_205+63insCCCCAGCAGAGGATCCCTCAGCAGAGGTAC) n.466+62_466+63insCCCCAGCAGAGGATCCCTCAGCAGAGGTAC c.171+62_171+63insCCCCAGCAGAGGATCCCTCAGCAGAGGTAC n.392+62_392+63insCCCCAGCAGAGGATCCCTCAGCAGAGGTAC c.466+62_466+63insCCCCAGCAGAGGATCCCTCAGCAGAGGTAC (n.466+62_466+63insCCCCAGCAGAGGATCCCTCAGCAGAGGTAC) c.63+62_63+63insCCCCAGCAGAGGATCCCTCAGCAGAGGTAC n.778_779insCCCCAGCAGAGGATCCCTCAGCAGAGGTAC | gnomAD v4 |
| 7 | g.24717193_24717194insTCCTCTGCTGAGGGATCCTCTGCTGGGGGT | CA2682082170 | GSDME | c.697+62_697+63insCCCCAGCAGAGGATCCCTCAGCAGAGGAAC (n.697+62_697+63insCCCCAGCAGAGGATCCCTCAGCAGAGGAAC) c.205+62_205+63insCCCCAGCAGAGGATCCCTCAGCAGAGGAAC (n.205+62_205+63insCCCCAGCAGAGGATCCCTCAGCAGAGGAAC) n.466+62_466+63insCCCCAGCAGAGGATCCCTCAGCAGAGGAAC c.171+62_171+63insCCCCAGCAGAGGATCCCTCAGCAGAGGAAC n.392+62_392+63insCCCCAGCAGAGGATCCCTCAGCAGAGGAAC c.466+62_466+63insCCCCAGCAGAGGATCCCTCAGCAGAGGAAC (n.466+62_466+63insCCCCAGCAGAGGATCCCTCAGCAGAGGAAC) c.63+62_63+63insCCCCAGCAGAGGATCCCTCAGCAGAGGAAC n.778_779insCCCCAGCAGAGGATCCCTCAGCAGAGGAAC | gnomAD v4 |
| 7 | g.24717194_24717195insACTCAGCTGAGGGATCCACTGCTGGGGGTC | CA2682082196 | GSDME | c.697+62_697+63insCCCCAGCAGTGGATCCCTCAGCTGAGTGAC (n.697+62_697+63insCCCCAGCAGTGGATCCCTCAGCTGAGTGAC) c.205+62_205+63insCCCCAGCAGTGGATCCCTCAGCTGAGTGAC (n.205+62_205+63insCCCCAGCAGTGGATCCCTCAGCTGAGTGAC) n.466+62_466+63insCCCCAGCAGTGGATCCCTCAGCTGAGTGAC c.171+62_171+63insCCCCAGCAGTGGATCCCTCAGCTGAGTGAC n.392+62_392+63insCCCCAGCAGTGGATCCCTCAGCTGAGTGAC c.466+62_466+63insCCCCAGCAGTGGATCCCTCAGCTGAGTGAC (n.466+62_466+63insCCCCAGCAGTGGATCCCTCAGCTGAGTGAC) c.63+62_63+63insCCCCAGCAGTGGATCCCTCAGCTGAGTGAC n.778_779insCCCCAGCAGTGGATCCCTCAGCTGAGTGAC | gnomAD v4 |
| 7 | g.24717194_24717195insTCTCTGCTGAGGGATCCTCTGCTGGGGGTC | CA2682082172 | GSDME | c.697+62_697+63insCCCCAGCAGAGGATCCCTCAGCAGAGAGAC (n.697+62_697+63insCCCCAGCAGAGGATCCCTCAGCAGAGAGAC) c.205+62_205+63insCCCCAGCAGAGGATCCCTCAGCAGAGAGAC (n.205+62_205+63insCCCCAGCAGAGGATCCCTCAGCAGAGAGAC) n.466+62_466+63insCCCCAGCAGAGGATCCCTCAGCAGAGAGAC c.171+62_171+63insCCCCAGCAGAGGATCCCTCAGCAGAGAGAC n.392+62_392+63insCCCCAGCAGAGGATCCCTCAGCAGAGAGAC c.466+62_466+63insCCCCAGCAGAGGATCCCTCAGCAGAGAGAC (n.466+62_466+63insCCCCAGCAGAGGATCCCTCAGCAGAGAGAC) c.63+62_63+63insCCCCAGCAGAGGATCCCTCAGCAGAGAGAC n.778_779insCCCCAGCAGAGGATCCCTCAGCAGAGAGAC | gnomAD v4 |
| 7 | g.24717194_24717195insACTCTGCTGAGGGATCCTCTGCTGGGGGTC | CA2682082186 | GSDME | c.697+62_697+63insCCCCAGCAGAGGATCCCTCAGCAGAGTGAC (n.697+62_697+63insCCCCAGCAGAGGATCCCTCAGCAGAGTGAC) c.205+62_205+63insCCCCAGCAGAGGATCCCTCAGCAGAGTGAC (n.205+62_205+63insCCCCAGCAGAGGATCCCTCAGCAGAGTGAC) n.466+62_466+63insCCCCAGCAGAGGATCCCTCAGCAGAGTGAC c.171+62_171+63insCCCCAGCAGAGGATCCCTCAGCAGAGTGAC n.392+62_392+63insCCCCAGCAGAGGATCCCTCAGCAGAGTGAC c.466+62_466+63insCCCCAGCAGAGGATCCCTCAGCAGAGTGAC (n.466+62_466+63insCCCCAGCAGAGGATCCCTCAGCAGAGTGAC) c.63+62_63+63insCCCCAGCAGAGGATCCCTCAGCAGAGTGAC n.778_779insCCCCAGCAGAGGATCCCTCAGCAGAGTGAC | gnomAD v4 |
| 7 | g.24717194_24717195insACACATCTGAGGGATCCTCTGCTGGGGGTCCCTCTGCTGAGGGATCCTCTGCTGGGGGTC | CA2682082197 | GSDME | c.697+62_697+63insCCCCAGCAGAGGATCCCTCAGCAGAGGGACCCCCAGCAGAGGATCCCTCAGATGTGTGAC (n.697+62_697+63insCCCCAGCAGAGGATCCCTCAGCAGAGGGACCCCCAGCAGAGGATCCCTCAGATGTGTGAC) c.205+62_205+63insCCCCAGCAGAGGATCCCTCAGCAGAGGGACCCCCAGCAGAGGATCCCTCAGATGTGTGAC (n.205+62_205+63insCCCCAGCAGAGGATCCCTCAGCAGAGGGACCCCCAGCAGAGGATCCCTCAGATGTGTGAC) n.466+62_466+63insCCCCAGCAGAGGATCCCTCAGCAGAGGGACCCCCAGCAGAGGATCCCTCAGATGTGTGAC c.171+62_171+63insCCCCAGCAGAGGATCCCTCAGCAGAGGGACCCCCAGCAGAGGATCCCTCAGATGTGTGAC n.392+62_392+63insCCCCAGCAGAGGATCCCTCAGCAGAGGGACCCCCAGCAGAGGATCCCTCAGATGTGTGAC c.466+62_466+63insCCCCAGCAGAGGATCCCTCAGCAGAGGGACCCCCAGCAGAGGATCCCTCAGATGTGTGAC (n.466+62_466+63insCCCCAGCAGAGGATCCCTCAGCAGAGGGACCCCCAGCAGAGGATCCCTCAGATGTGTGAC) c.63+62_63+63insCCCCAGCAGAGGATCCCTCAGCAGAGGGACCCCCAGCAGAGGATCCCTCAGATGTGTGAC n.778_779insCCCCAGCAGAGGATCCCTCAGCAGAGGGACCCCCAGCAGAGGATCCCTCAGATGTGTGAC | gnomAD v4 |
| 7 | g.24717195_24717196insATCTGCTGAGGGATCCTCTGCTGGGGGTCC | CA2682082194 | GSDME | c.697+62_697+63insCCCCAGCAGAGGATCCCTCAGCAGATGGAC (n.697+62_697+63insCCCCAGCAGAGGATCCCTCAGCAGATGGAC) c.205+62_205+63insCCCCAGCAGAGGATCCCTCAGCAGATGGAC (n.205+62_205+63insCCCCAGCAGAGGATCCCTCAGCAGATGGAC) n.466+62_466+63insCCCCAGCAGAGGATCCCTCAGCAGATGGAC c.171+62_171+63insCCCCAGCAGAGGATCCCTCAGCAGATGGAC n.392+62_392+63insCCCCAGCAGAGGATCCCTCAGCAGATGGAC c.466+62_466+63insCCCCAGCAGAGGATCCCTCAGCAGATGGAC (n.466+62_466+63insCCCCAGCAGAGGATCCCTCAGCAGATGGAC) c.63+62_63+63insCCCCAGCAGAGGATCCCTCAGCAGATGGAC n.778_779insCCCCAGCAGAGGATCCCTCAGCAGATGGAC | gnomAD v4 |
| 7 | g.24717195_24717196insGTCTGCTGAGGGATCCTCTGCTGGGGGTCC | CA2682082173 | GSDME | c.697+62_697+63insCCCCAGCAGAGGATCCCTCAGCAGACGGAC (n.697+62_697+63insCCCCAGCAGAGGATCCCTCAGCAGACGGAC) c.205+62_205+63insCCCCAGCAGAGGATCCCTCAGCAGACGGAC (n.205+62_205+63insCCCCAGCAGAGGATCCCTCAGCAGACGGAC) n.466+62_466+63insCCCCAGCAGAGGATCCCTCAGCAGACGGAC c.171+62_171+63insCCCCAGCAGAGGATCCCTCAGCAGACGGAC n.392+62_392+63insCCCCAGCAGAGGATCCCTCAGCAGACGGAC c.466+62_466+63insCCCCAGCAGAGGATCCCTCAGCAGACGGAC (n.466+62_466+63insCCCCAGCAGAGGATCCCTCAGCAGACGGAC) c.63+62_63+63insCCCCAGCAGAGGATCCCTCAGCAGACGGAC n.778_779insCCCCAGCAGAGGATCCCTCAGCAGACGGAC | gnomAD v4 |
| 7 | g.24717195_24717196insTTCTGCTGAGGGATCCTCTGCTGGGGGTCC | CA1099433644 | GSDME | c.697+62_697+63insCCCCAGCAGAGGATCCCTCAGCAGAAGGAC (n.697+62_697+63insCCCCAGCAGAGGATCCCTCAGCAGAAGGAC) c.205+62_205+63insCCCCAGCAGAGGATCCCTCAGCAGAAGGAC (n.205+62_205+63insCCCCAGCAGAGGATCCCTCAGCAGAAGGAC) n.466+62_466+63insCCCCAGCAGAGGATCCCTCAGCAGAAGGAC c.171+62_171+63insCCCCAGCAGAGGATCCCTCAGCAGAAGGAC n.392+62_392+63insCCCCAGCAGAGGATCCCTCAGCAGAAGGAC c.466+62_466+63insCCCCAGCAGAGGATCCCTCAGCAGAAGGAC (n.466+62_466+63insCCCCAGCAGAGGATCCCTCAGCAGAAGGAC) c.63+62_63+63insCCCCAGCAGAGGATCCCTCAGCAGAAGGAC n.778_779insCCCCAGCAGAGGATCCCTCAGCAGAAGGAC | gnomAD v3 gnomAD v4 |
| 7 | g.24717196_24717197insACTGCTGTGGGAGCCTCTGCTGGGGGTCCC | CA2682082192 | GSDME | c.697+62_697+63insCCCCAGCAGAGGCTCCCACAGCAGTGGGAC (n.697+62_697+63insCCCCAGCAGAGGCTCCCACAGCAGTGGGAC) c.205+62_205+63insCCCCAGCAGAGGCTCCCACAGCAGTGGGAC (n.205+62_205+63insCCCCAGCAGAGGCTCCCACAGCAGTGGGAC) n.466+62_466+63insCCCCAGCAGAGGCTCCCACAGCAGTGGGAC c.171+62_171+63insCCCCAGCAGAGGCTCCCACAGCAGTGGGAC n.392+62_392+63insCCCCAGCAGAGGCTCCCACAGCAGTGGGAC c.466+62_466+63insCCCCAGCAGAGGCTCCCACAGCAGTGGGAC (n.466+62_466+63insCCCCAGCAGAGGCTCCCACAGCAGTGGGAC) c.63+62_63+63insCCCCAGCAGAGGCTCCCACAGCAGTGGGAC n.778_779insCCCCAGCAGAGGCTCCCACAGCAGTGGGAC | gnomAD v4 |
| 7 | g.24717196_24717197insCCTGCTGAGGGATCCTCTGCTGGGGGTCCC | CA2682082191 | GSDME | c.697+62_697+63insCCCCAGCAGAGGATCCCTCAGCAGGGGGAC (n.697+62_697+63insCCCCAGCAGAGGATCCCTCAGCAGGGGGAC) c.205+62_205+63insCCCCAGCAGAGGATCCCTCAGCAGGGGGAC (n.205+62_205+63insCCCCAGCAGAGGATCCCTCAGCAGGGGGAC) n.466+62_466+63insCCCCAGCAGAGGATCCCTCAGCAGGGGGAC c.171+62_171+63insCCCCAGCAGAGGATCCCTCAGCAGGGGGAC n.392+62_392+63insCCCCAGCAGAGGATCCCTCAGCAGGGGGAC c.466+62_466+63insCCCCAGCAGAGGATCCCTCAGCAGGGGGAC (n.466+62_466+63insCCCCAGCAGAGGATCCCTCAGCAGGGGGAC) c.63+62_63+63insCCCCAGCAGAGGATCCCTCAGCAGGGGGAC n.778_779insCCCCAGCAGAGGATCCCTCAGCAGGGGGAC | gnomAD v4 |
| 7 | g.24717196_24717197insGCTGCTGAGGGATCCTCTGCTGGGGGTCCC | CA1099433669 | GSDME | c.697+62_697+63insCCCCAGCAGAGGATCCCTCAGCAGCGGGAC (n.697+62_697+63insCCCCAGCAGAGGATCCCTCAGCAGCGGGAC) c.205+62_205+63insCCCCAGCAGAGGATCCCTCAGCAGCGGGAC (n.205+62_205+63insCCCCAGCAGAGGATCCCTCAGCAGCGGGAC) n.466+62_466+63insCCCCAGCAGAGGATCCCTCAGCAGCGGGAC c.171+62_171+63insCCCCAGCAGAGGATCCCTCAGCAGCGGGAC n.392+62_392+63insCCCCAGCAGAGGATCCCTCAGCAGCGGGAC c.466+62_466+63insCCCCAGCAGAGGATCCCTCAGCAGCGGGAC (n.466+62_466+63insCCCCAGCAGAGGATCCCTCAGCAGCGGGAC) c.63+62_63+63insCCCCAGCAGAGGATCCCTCAGCAGCGGGAC n.778_779insCCCCAGCAGAGGATCCCTCAGCAGCGGGAC | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.24717196_24717197insACTGCTGAGGGATCCTCTGCTGGGGGTCCC | CA2682082193 | GSDME | c.697+62_697+63insCCCCAGCAGAGGATCCCTCAGCAGTGGGAC (n.697+62_697+63insCCCCAGCAGAGGATCCCTCAGCAGTGGGAC) c.205+62_205+63insCCCCAGCAGAGGATCCCTCAGCAGTGGGAC (n.205+62_205+63insCCCCAGCAGAGGATCCCTCAGCAGTGGGAC) n.466+62_466+63insCCCCAGCAGAGGATCCCTCAGCAGTGGGAC c.171+62_171+63insCCCCAGCAGAGGATCCCTCAGCAGTGGGAC n.392+62_392+63insCCCCAGCAGAGGATCCCTCAGCAGTGGGAC c.466+62_466+63insCCCCAGCAGAGGATCCCTCAGCAGTGGGAC (n.466+62_466+63insCCCCAGCAGAGGATCCCTCAGCAGTGGGAC) c.63+62_63+63insCCCCAGCAGAGGATCCCTCAGCAGTGGGAC n.778_779insCCCCAGCAGAGGATCCCTCAGCAGTGGGAC | gnomAD v4 |
| 7 | g.24717196_24717197insCCTGCTGAGGGATCCTCTGCTGGGTGTCCC | CA2682082190 | GSDME | c.697+62_697+63insACCCAGCAGAGGATCCCTCAGCAGGGGGAC (n.697+62_697+63insACCCAGCAGAGGATCCCTCAGCAGGGGGAC) c.205+62_205+63insACCCAGCAGAGGATCCCTCAGCAGGGGGAC (n.205+62_205+63insACCCAGCAGAGGATCCCTCAGCAGGGGGAC) n.466+62_466+63insACCCAGCAGAGGATCCCTCAGCAGGGGGAC c.171+62_171+63insACCCAGCAGAGGATCCCTCAGCAGGGGGAC n.392+62_392+63insACCCAGCAGAGGATCCCTCAGCAGGGGGAC c.466+62_466+63insACCCAGCAGAGGATCCCTCAGCAGGGGGAC (n.466+62_466+63insACCCAGCAGAGGATCCCTCAGCAGGGGGAC) c.63+62_63+63insACCCAGCAGAGGATCCCTCAGCAGGGGGAC n.778_779insACCCAGCAGAGGATCCCTCAGCAGGGGGAC | gnomAD v4 |
| 7 | g.24717197_24717198insATGCTGAGGGATCCTCTGCTGGGGGTCCCT | CA2682082189 | GSDME | c.697+62_697+63insCCCCAGCAGAGGATCCCTCAGCATAGGGAC (n.697+62_697+63insCCCCAGCAGAGGATCCCTCAGCATAGGGAC) c.205+62_205+63insCCCCAGCAGAGGATCCCTCAGCATAGGGAC (n.205+62_205+63insCCCCAGCAGAGGATCCCTCAGCATAGGGAC) n.466+62_466+63insCCCCAGCAGAGGATCCCTCAGCATAGGGAC c.171+62_171+63insCCCCAGCAGAGGATCCCTCAGCATAGGGAC n.392+62_392+63insCCCCAGCAGAGGATCCCTCAGCATAGGGAC c.466+62_466+63insCCCCAGCAGAGGATCCCTCAGCATAGGGAC (n.466+62_466+63insCCCCAGCAGAGGATCCCTCAGCATAGGGAC) c.63+62_63+63insCCCCAGCAGAGGATCCCTCAGCATAGGGAC n.778_779insCCCCAGCAGAGGATCCCTCAGCATAGGGAC | gnomAD v4 |
| 7 | g.24717197_24717198insGTGCTGAGGGATCCTCTGCTGGGGGTCCCT | CA2682082174 | GSDME | c.697+62_697+63insCCCCAGCAGAGGATCCCTCAGCACAGGGAC (n.697+62_697+63insCCCCAGCAGAGGATCCCTCAGCACAGGGAC) c.205+62_205+63insCCCCAGCAGAGGATCCCTCAGCACAGGGAC (n.205+62_205+63insCCCCAGCAGAGGATCCCTCAGCACAGGGAC) n.466+62_466+63insCCCCAGCAGAGGATCCCTCAGCACAGGGAC c.171+62_171+63insCCCCAGCAGAGGATCCCTCAGCACAGGGAC n.392+62_392+63insCCCCAGCAGAGGATCCCTCAGCACAGGGAC c.466+62_466+63insCCCCAGCAGAGGATCCCTCAGCACAGGGAC (n.466+62_466+63insCCCCAGCAGAGGATCCCTCAGCACAGGGAC) c.63+62_63+63insCCCCAGCAGAGGATCCCTCAGCACAGGGAC n.778_779insCCCCAGCAGAGGATCCCTCAGCACAGGGAC | gnomAD v4 |
| 7 | g.24717198_24717199insGGCTGAGGGATCCTCTGCTGGGGGTCCCTC | CA1099433668 | GSDME | c.697+62_697+63insCCCCAGCAGAGGATCCCTCAGCCGAGGGAC (n.697+62_697+63insCCCCAGCAGAGGATCCCTCAGCCGAGGGAC) c.205+62_205+63insCCCCAGCAGAGGATCCCTCAGCCGAGGGAC (n.205+62_205+63insCCCCAGCAGAGGATCCCTCAGCCGAGGGAC) n.466+62_466+63insCCCCAGCAGAGGATCCCTCAGCCGAGGGAC c.171+62_171+63insCCCCAGCAGAGGATCCCTCAGCCGAGGGAC n.392+62_392+63insCCCCAGCAGAGGATCCCTCAGCCGAGGGAC c.466+62_466+63insCCCCAGCAGAGGATCCCTCAGCCGAGGGAC (n.466+62_466+63insCCCCAGCAGAGGATCCCTCAGCCGAGGGAC) c.63+62_63+63insCCCCAGCAGAGGATCCCTCAGCCGAGGGAC n.778_779insCCCCAGCAGAGGATCCCTCAGCCGAGGGAC | gnomAD v3 gnomAD v4 |
| 7 | g.24717198_24717199insAGCTGAGGGATCCTCTGCTGGGGGTCCCTC | CA2682082188 | GSDME | c.697+62_697+63insCCCCAGCAGAGGATCCCTCAGCTGAGGGAC (n.697+62_697+63insCCCCAGCAGAGGATCCCTCAGCTGAGGGAC) c.205+62_205+63insCCCCAGCAGAGGATCCCTCAGCTGAGGGAC (n.205+62_205+63insCCCCAGCAGAGGATCCCTCAGCTGAGGGAC) n.466+62_466+63insCCCCAGCAGAGGATCCCTCAGCTGAGGGAC c.171+62_171+63insCCCCAGCAGAGGATCCCTCAGCTGAGGGAC n.392+62_392+63insCCCCAGCAGAGGATCCCTCAGCTGAGGGAC c.466+62_466+63insCCCCAGCAGAGGATCCCTCAGCTGAGGGAC (n.466+62_466+63insCCCCAGCAGAGGATCCCTCAGCTGAGGGAC) c.63+62_63+63insCCCCAGCAGAGGATCCCTCAGCTGAGGGAC n.778_779insCCCCAGCAGAGGATCCCTCAGCTGAGGGAC | gnomAD v4 |
| 7 | g.24717199_24717200insCTGAGGGATCCTCTGCTGGGGGTCCCTCT | CA2682082205 | GSDME | c.697+62_697+63insCCCCAGCAGAGGATCCCTCAGAGAGGGAC (n.697+62_697+63insCCCCAGCAGAGGATCCCTCAGAGAGGGAC) c.205+62_205+63insCCCCAGCAGAGGATCCCTCAGAGAGGGAC (n.205+62_205+63insCCCCAGCAGAGGATCCCTCAGAGAGGGAC) n.466+62_466+63insCCCCAGCAGAGGATCCCTCAGAGAGGGAC c.171+62_171+63insCCCCAGCAGAGGATCCCTCAGAGAGGGAC n.392+62_392+63insCCCCAGCAGAGGATCCCTCAGAGAGGGAC c.466+62_466+63insCCCCAGCAGAGGATCCCTCAGAGAGGGAC (n.466+62_466+63insCCCCAGCAGAGGATCCCTCAGAGAGGGAC) c.63+62_63+63insCCCCAGCAGAGGATCCCTCAGAGAGGGAC n.778_779insCCCCAGCAGAGGATCCCTCAGAGAGGGAC | gnomAD v4 |
| 7 | g.24717199_24717200insTCTGATGGATCCTCTGCTGGGGGTCCCTCT | CA2682082175 | GSDME | c.697+62_697+63insCCCCAGCAGAGGATCCATCAGAAGAGGGAC (n.697+62_697+63insCCCCAGCAGAGGATCCATCAGAAGAGGGAC) c.205+62_205+63insCCCCAGCAGAGGATCCATCAGAAGAGGGAC (n.205+62_205+63insCCCCAGCAGAGGATCCATCAGAAGAGGGAC) n.466+62_466+63insCCCCAGCAGAGGATCCATCAGAAGAGGGAC c.171+62_171+63insCCCCAGCAGAGGATCCATCAGAAGAGGGAC n.392+62_392+63insCCCCAGCAGAGGATCCATCAGAAGAGGGAC c.466+62_466+63insCCCCAGCAGAGGATCCATCAGAAGAGGGAC (n.466+62_466+63insCCCCAGCAGAGGATCCATCAGAAGAGGGAC) c.63+62_63+63insCCCCAGCAGAGGATCCATCAGAAGAGGGAC n.778_779insCCCCAGCAGAGGATCCATCAGAAGAGGGAC | gnomAD v4 |
| 7 | g.24717199_24717200insTCTGAGGGATCCTCTGCTGGGGGTCCCTCT | CA1099433646 | GSDME | c.697+62_697+63insCCCCAGCAGAGGATCCCTCAGAAGAGGGAC (n.697+62_697+63insCCCCAGCAGAGGATCCCTCAGAAGAGGGAC) c.205+62_205+63insCCCCAGCAGAGGATCCCTCAGAAGAGGGAC (n.205+62_205+63insCCCCAGCAGAGGATCCCTCAGAAGAGGGAC) n.466+62_466+63insCCCCAGCAGAGGATCCCTCAGAAGAGGGAC c.171+62_171+63insCCCCAGCAGAGGATCCCTCAGAAGAGGGAC n.392+62_392+63insCCCCAGCAGAGGATCCCTCAGAAGAGGGAC c.466+62_466+63insCCCCAGCAGAGGATCCCTCAGAAGAGGGAC (n.466+62_466+63insCCCCAGCAGAGGATCCCTCAGAAGAGGGAC) c.63+62_63+63insCCCCAGCAGAGGATCCCTCAGAAGAGGGAC n.778_779insCCCCAGCAGAGGATCCCTCAGAAGAGGGAC | gnomAD v3 gnomAD v4 |
| 7 | g.24717199_24717200insCCTGAGGGATCCTCTGCTGGGGGTCCCTCT | CA2682082224 | GSDME | c.697+62_697+63insCCCCAGCAGAGGATCCCTCAGGAGAGGGAC (n.697+62_697+63insCCCCAGCAGAGGATCCCTCAGGAGAGGGAC) c.205+62_205+63insCCCCAGCAGAGGATCCCTCAGGAGAGGGAC (n.205+62_205+63insCCCCAGCAGAGGATCCCTCAGGAGAGGGAC) n.466+62_466+63insCCCCAGCAGAGGATCCCTCAGGAGAGGGAC c.171+62_171+63insCCCCAGCAGAGGATCCCTCAGGAGAGGGAC n.392+62_392+63insCCCCAGCAGAGGATCCCTCAGGAGAGGGAC c.466+62_466+63insCCCCAGCAGAGGATCCCTCAGGAGAGGGAC (n.466+62_466+63insCCCCAGCAGAGGATCCCTCAGGAGAGGGAC) c.63+62_63+63insCCCCAGCAGAGGATCCCTCAGGAGAGGGAC n.778_779insCCCCAGCAGAGGATCCCTCAGGAGAGGGAC | gnomAD v4 |
| 7 | g.24717199_24717200insACTGAGGGATCCTCTGCTGGGGGTCCCTCT | CA2682082187 | GSDME | c.697+62_697+63insCCCCAGCAGAGGATCCCTCAGTAGAGGGAC (n.697+62_697+63insCCCCAGCAGAGGATCCCTCAGTAGAGGGAC) c.205+62_205+63insCCCCAGCAGAGGATCCCTCAGTAGAGGGAC (n.205+62_205+63insCCCCAGCAGAGGATCCCTCAGTAGAGGGAC) n.466+62_466+63insCCCCAGCAGAGGATCCCTCAGTAGAGGGAC c.171+62_171+63insCCCCAGCAGAGGATCCCTCAGTAGAGGGAC n.392+62_392+63insCCCCAGCAGAGGATCCCTCAGTAGAGGGAC c.466+62_466+63insCCCCAGCAGAGGATCCCTCAGTAGAGGGAC (n.466+62_466+63insCCCCAGCAGAGGATCCCTCAGTAGAGGGAC) c.63+62_63+63insCCCCAGCAGAGGATCCCTCAGTAGAGGGAC n.778_779insCCCCAGCAGAGGATCCCTCAGTAGAGGGAC | gnomAD v4 |
| 7 | g.24717200_24717201insATGAGGGATCCTCTGCTGGGGGTCCCTCTG | CA2682082222 | GSDME | c.697+62_697+63insCCCCAGCAGAGGATCCCTCATCAGAGGGAC (n.697+62_697+63insCCCCAGCAGAGGATCCCTCATCAGAGGGAC) c.205+62_205+63insCCCCAGCAGAGGATCCCTCATCAGAGGGAC (n.205+62_205+63insCCCCAGCAGAGGATCCCTCATCAGAGGGAC) n.466+62_466+63insCCCCAGCAGAGGATCCCTCATCAGAGGGAC c.171+62_171+63insCCCCAGCAGAGGATCCCTCATCAGAGGGAC n.392+62_392+63insCCCCAGCAGAGGATCCCTCATCAGAGGGAC c.466+62_466+63insCCCCAGCAGAGGATCCCTCATCAGAGGGAC (n.466+62_466+63insCCCCAGCAGAGGATCCCTCATCAGAGGGAC) c.63+62_63+63insCCCCAGCAGAGGATCCCTCATCAGAGGGAC n.778_779insCCCCAGCAGAGGATCCCTCATCAGAGGGAC | gnomAD v4 |
| 7 | g.24717200_24717201insTTGAGGGATCCTCTGCTGGGGGTCCCTCTG | CA2682082167 | GSDME | c.697+62_697+63insCCCCAGCAGAGGATCCCTCAACAGAGGGAC (n.697+62_697+63insCCCCAGCAGAGGATCCCTCAACAGAGGGAC) c.205+62_205+63insCCCCAGCAGAGGATCCCTCAACAGAGGGAC (n.205+62_205+63insCCCCAGCAGAGGATCCCTCAACAGAGGGAC) n.466+62_466+63insCCCCAGCAGAGGATCCCTCAACAGAGGGAC c.171+62_171+63insCCCCAGCAGAGGATCCCTCAACAGAGGGAC n.392+62_392+63insCCCCAGCAGAGGATCCCTCAACAGAGGGAC c.466+62_466+63insCCCCAGCAGAGGATCCCTCAACAGAGGGAC (n.466+62_466+63insCCCCAGCAGAGGATCCCTCAACAGAGGGAC) c.63+62_63+63insCCCCAGCAGAGGATCCCTCAACAGAGGGAC n.778_779insCCCCAGCAGAGGATCCCTCAACAGAGGGAC | gnomAD v4 |
| 7 | g.24717201_24717202insCGAGGGATCCTCTGCTGGGGGTCCCTCTGC | CA2682082220 | GSDME | c.697+62_697+63insCCCCAGCAGAGGATCCCTCGGCAGAGGGAC (n.697+62_697+63insCCCCAGCAGAGGATCCCTCGGCAGAGGGAC) c.205+62_205+63insCCCCAGCAGAGGATCCCTCGGCAGAGGGAC (n.205+62_205+63insCCCCAGCAGAGGATCCCTCGGCAGAGGGAC) n.466+62_466+63insCCCCAGCAGAGGATCCCTCGGCAGAGGGAC c.171+62_171+63insCCCCAGCAGAGGATCCCTCGGCAGAGGGAC n.392+62_392+63insCCCCAGCAGAGGATCCCTCGGCAGAGGGAC c.466+62_466+63insCCCCAGCAGAGGATCCCTCGGCAGAGGGAC (n.466+62_466+63insCCCCAGCAGAGGATCCCTCGGCAGAGGGAC) c.63+62_63+63insCCCCAGCAGAGGATCCCTCGGCAGAGGGAC n.778_779insCCCCAGCAGAGGATCCCTCGGCAGAGGGAC | gnomAD v4 |
| 7 | g.24717201_24717202insAGAGGGATCCTCTGCTGGGGGTCCCTCTGC | CA2682082221 | GSDME | c.697+62_697+63insCCCCAGCAGAGGATCCCTCTGCAGAGGGAC (n.697+62_697+63insCCCCAGCAGAGGATCCCTCTGCAGAGGGAC) c.205+62_205+63insCCCCAGCAGAGGATCCCTCTGCAGAGGGAC (n.205+62_205+63insCCCCAGCAGAGGATCCCTCTGCAGAGGGAC) n.466+62_466+63insCCCCAGCAGAGGATCCCTCTGCAGAGGGAC c.171+62_171+63insCCCCAGCAGAGGATCCCTCTGCAGAGGGAC n.392+62_392+63insCCCCAGCAGAGGATCCCTCTGCAGAGGGAC c.466+62_466+63insCCCCAGCAGAGGATCCCTCTGCAGAGGGAC (n.466+62_466+63insCCCCAGCAGAGGATCCCTCTGCAGAGGGAC) c.63+62_63+63insCCCCAGCAGAGGATCCCTCTGCAGAGGGAC n.778_779insCCCCAGCAGAGGATCCCTCTGCAGAGGGAC | gnomAD v4 |
| 7 | g.24717202_24717203insTAGGGATCCTCTGCTGGGGGTCCCTCTGCT | CA2682082177 | GSDME | c.697+62_697+63insCCCCAGCAGAGGATCCCTAAGCAGAGGGAC (n.697+62_697+63insCCCCAGCAGAGGATCCCTAAGCAGAGGGAC) c.205+62_205+63insCCCCAGCAGAGGATCCCTAAGCAGAGGGAC (n.205+62_205+63insCCCCAGCAGAGGATCCCTAAGCAGAGGGAC) n.466+62_466+63insCCCCAGCAGAGGATCCCTAAGCAGAGGGAC c.171+62_171+63insCCCCAGCAGAGGATCCCTAAGCAGAGGGAC n.392+62_392+63insCCCCAGCAGAGGATCCCTAAGCAGAGGGAC c.466+62_466+63insCCCCAGCAGAGGATCCCTAAGCAGAGGGAC (n.466+62_466+63insCCCCAGCAGAGGATCCCTAAGCAGAGGGAC) c.63+62_63+63insCCCCAGCAGAGGATCCCTAAGCAGAGGGAC n.778_779insCCCCAGCAGAGGATCCCTAAGCAGAGGGAC | gnomAD v4 |
| 7 | g.24717202_24717203insTAGGTATCCTCTGCTGGGGGTCCCTCTGCT | CA1099433647 | GSDME | c.697+62_697+63insCCCCAGCAGAGGATACCTAAGCAGAGGGAC (n.697+62_697+63insCCCCAGCAGAGGATACCTAAGCAGAGGGAC) c.205+62_205+63insCCCCAGCAGAGGATACCTAAGCAGAGGGAC (n.205+62_205+63insCCCCAGCAGAGGATACCTAAGCAGAGGGAC) n.466+62_466+63insCCCCAGCAGAGGATACCTAAGCAGAGGGAC c.171+62_171+63insCCCCAGCAGAGGATACCTAAGCAGAGGGAC n.392+62_392+63insCCCCAGCAGAGGATACCTAAGCAGAGGGAC c.466+62_466+63insCCCCAGCAGAGGATACCTAAGCAGAGGGAC (n.466+62_466+63insCCCCAGCAGAGGATACCTAAGCAGAGGGAC) c.63+62_63+63insCCCCAGCAGAGGATACCTAAGCAGAGGGAC n.778_779insCCCCAGCAGAGGATACCTAAGCAGAGGGAC | gnomAD v3 gnomAD v4 |
| 7 | g.24717203_24717204insGGGGTCCCTCTGCTG | CA2682082182 | GSDME | c.697+62_697+63insCCCCAGCAGAGGGAC (n.697+62_697+63insCCCCAGCAGAGGGAC) c.205+62_205+63insCCCCAGCAGAGGGAC (n.205+62_205+63insCCCCAGCAGAGGGAC) n.466+62_466+63insCCCCAGCAGAGGGAC c.171+62_171+63insCCCCAGCAGAGGGAC n.392+62_392+63insCCCCAGCAGAGGGAC c.466+62_466+63insCCCCAGCAGAGGGAC (n.466+62_466+63insCCCCAGCAGAGGGAC) c.63+62_63+63insCCCCAGCAGAGGGAC n.778_779insCCCCAGCAGAGGGAC | gnomAD v4 |
| 7 | g.24717203_24717204insGATCCTCTGCTGGGGGTCCCTCTGCTG | CA2682082183 | GSDME | c.697+62_697+63insCCCCAGCAGAGGATCCAGCAGAGGGAC (n.697+62_697+63insCCCCAGCAGAGGATCCAGCAGAGGGAC) c.205+62_205+63insCCCCAGCAGAGGATCCAGCAGAGGGAC (n.205+62_205+63insCCCCAGCAGAGGATCCAGCAGAGGGAC) n.466+62_466+63insCCCCAGCAGAGGATCCAGCAGAGGGAC c.171+62_171+63insCCCCAGCAGAGGATCCAGCAGAGGGAC n.392+62_392+63insCCCCAGCAGAGGATCCAGCAGAGGGAC c.466+62_466+63insCCCCAGCAGAGGATCCAGCAGAGGGAC (n.466+62_466+63insCCCCAGCAGAGGATCCAGCAGAGGGAC) c.63+62_63+63insCCCCAGCAGAGGATCCAGCAGAGGGAC n.778_779insCCCCAGCAGAGGATCCAGCAGAGGGAC | gnomAD v4 |
| 7 | g.24717203_24717204insTGATCCTCTGCTGGGGGTCCCTCTGCTG | CA2682082180 | GSDME | c.697+62_697+63insCCCCAGCAGAGGATCACAGCAGAGGGAC (n.697+62_697+63insCCCCAGCAGAGGATCACAGCAGAGGGAC) c.205+62_205+63insCCCCAGCAGAGGATCACAGCAGAGGGAC (n.205+62_205+63insCCCCAGCAGAGGATCACAGCAGAGGGAC) n.466+62_466+63insCCCCAGCAGAGGATCACAGCAGAGGGAC c.171+62_171+63insCCCCAGCAGAGGATCACAGCAGAGGGAC n.392+62_392+63insCCCCAGCAGAGGATCACAGCAGAGGGAC c.466+62_466+63insCCCCAGCAGAGGATCACAGCAGAGGGAC (n.466+62_466+63insCCCCAGCAGAGGATCACAGCAGAGGGAC) c.63+62_63+63insCCCCAGCAGAGGATCACAGCAGAGGGAC n.778_779insCCCCAGCAGAGGATCACAGCAGAGGGAC | gnomAD v4 |
| 7 | g.24717203_24717204insTGGATCCTCTGCTGGGGGTCCCTCTGCTG | CA2682082179 | GSDME | c.697+62_697+63insCCCCAGCAGAGGATCCACAGCAGAGGGAC (n.697+62_697+63insCCCCAGCAGAGGATCCACAGCAGAGGGAC) c.205+62_205+63insCCCCAGCAGAGGATCCACAGCAGAGGGAC (n.205+62_205+63insCCCCAGCAGAGGATCCACAGCAGAGGGAC) n.466+62_466+63insCCCCAGCAGAGGATCCACAGCAGAGGGAC c.171+62_171+63insCCCCAGCAGAGGATCCACAGCAGAGGGAC n.392+62_392+63insCCCCAGCAGAGGATCCACAGCAGAGGGAC c.466+62_466+63insCCCCAGCAGAGGATCCACAGCAGAGGGAC (n.466+62_466+63insCCCCAGCAGAGGATCCACAGCAGAGGGAC) c.63+62_63+63insCCCCAGCAGAGGATCCACAGCAGAGGGAC n.778_779insCCCCAGCAGAGGATCCACAGCAGAGGGAC | gnomAD v4 |
| 7 | g.24717203_24717204insTGGGATCCTCTGCTGGGGGTCCCTCTGCTG | CA2682082178 | GSDME | c.697+62_697+63insCCCCAGCAGAGGATCCCACAGCAGAGGGAC (n.697+62_697+63insCCCCAGCAGAGGATCCCACAGCAGAGGGAC) c.205+62_205+63insCCCCAGCAGAGGATCCCACAGCAGAGGGAC (n.205+62_205+63insCCCCAGCAGAGGATCCCACAGCAGAGGGAC) n.466+62_466+63insCCCCAGCAGAGGATCCCACAGCAGAGGGAC c.171+62_171+63insCCCCAGCAGAGGATCCCACAGCAGAGGGAC n.392+62_392+63insCCCCAGCAGAGGATCCCACAGCAGAGGGAC c.466+62_466+63insCCCCAGCAGAGGATCCCACAGCAGAGGGAC (n.466+62_466+63insCCCCAGCAGAGGATCCCACAGCAGAGGGAC) c.63+62_63+63insCCCCAGCAGAGGATCCCACAGCAGAGGGAC n.778_779insCCCCAGCAGAGGATCCCACAGCAGAGGGAC | gnomAD v4 |
| 7 | g.24717203_24717204insCGGGATCCTCTGCTGGGGGTCCCTCTGCTG | CA2682082184 | GSDME | c.697+62_697+63insCCCCAGCAGAGGATCCCGCAGCAGAGGGAC (n.697+62_697+63insCCCCAGCAGAGGATCCCGCAGCAGAGGGAC) c.205+62_205+63insCCCCAGCAGAGGATCCCGCAGCAGAGGGAC (n.205+62_205+63insCCCCAGCAGAGGATCCCGCAGCAGAGGGAC) n.466+62_466+63insCCCCAGCAGAGGATCCCGCAGCAGAGGGAC c.171+62_171+63insCCCCAGCAGAGGATCCCGCAGCAGAGGGAC n.392+62_392+63insCCCCAGCAGAGGATCCCGCAGCAGAGGGAC c.466+62_466+63insCCCCAGCAGAGGATCCCGCAGCAGAGGGAC (n.466+62_466+63insCCCCAGCAGAGGATCCCGCAGCAGAGGGAC) c.63+62_63+63insCCCCAGCAGAGGATCCCGCAGCAGAGGGAC n.778_779insCCCCAGCAGAGGATCCCGCAGCAGAGGGAC | gnomAD v4 |
| 7 | g.24717203_24717204insGGGGATCCTCTGCTGGGGGTCCCTCTGCTG | CA2682082181 | GSDME | c.697+62_697+63insCCCCAGCAGAGGATCCCCCAGCAGAGGGAC (n.697+62_697+63insCCCCAGCAGAGGATCCCCCAGCAGAGGGAC) c.205+62_205+63insCCCCAGCAGAGGATCCCCCAGCAGAGGGAC (n.205+62_205+63insCCCCAGCAGAGGATCCCCCAGCAGAGGGAC) n.466+62_466+63insCCCCAGCAGAGGATCCCCCAGCAGAGGGAC c.171+62_171+63insCCCCAGCAGAGGATCCCCCAGCAGAGGGAC n.392+62_392+63insCCCCAGCAGAGGATCCCCCAGCAGAGGGAC c.466+62_466+63insCCCCAGCAGAGGATCCCCCAGCAGAGGGAC (n.466+62_466+63insCCCCAGCAGAGGATCCCCCAGCAGAGGGAC) c.63+62_63+63insCCCCAGCAGAGGATCCCCCAGCAGAGGGAC n.778_779insCCCCAGCAGAGGATCCCCCAGCAGAGGGAC | gnomAD v4 |
| 7 | g.24717204_24717205insTGGATCCTCTGCTGGGGGTCCCTCTGCTGA | CA2682082185 | GSDME | c.697+62_697+63insCCCCAGCAGAGGATCCATCAGCAGAGGGAC (n.697+62_697+63insCCCCAGCAGAGGATCCATCAGCAGAGGGAC) c.205+62_205+63insCCCCAGCAGAGGATCCATCAGCAGAGGGAC (n.205+62_205+63insCCCCAGCAGAGGATCCATCAGCAGAGGGAC) n.466+62_466+63insCCCCAGCAGAGGATCCATCAGCAGAGGGAC c.171+62_171+63insCCCCAGCAGAGGATCCATCAGCAGAGGGAC n.392+62_392+63insCCCCAGCAGAGGATCCATCAGCAGAGGGAC c.466+62_466+63insCCCCAGCAGAGGATCCATCAGCAGAGGGAC (n.466+62_466+63insCCCCAGCAGAGGATCCATCAGCAGAGGGAC) c.63+62_63+63insCCCCAGCAGAGGATCCATCAGCAGAGGGAC n.778_779insCCCCAGCAGAGGATCCATCAGCAGAGGGAC | gnomAD v4 |
| 7 | g.24717204_24717205insTGGATCATCTGCTGGGGGTCCCTCTGCTGA | CA2682082176 | GSDME | c.697+62_697+63insCCCCAGCAGATGATCCATCAGCAGAGGGAC (n.697+62_697+63insCCCCAGCAGATGATCCATCAGCAGAGGGAC) c.205+62_205+63insCCCCAGCAGATGATCCATCAGCAGAGGGAC (n.205+62_205+63insCCCCAGCAGATGATCCATCAGCAGAGGGAC) n.466+62_466+63insCCCCAGCAGATGATCCATCAGCAGAGGGAC c.171+62_171+63insCCCCAGCAGATGATCCATCAGCAGAGGGAC n.392+62_392+63insCCCCAGCAGATGATCCATCAGCAGAGGGAC c.466+62_466+63insCCCCAGCAGATGATCCATCAGCAGAGGGAC (n.466+62_466+63insCCCCAGCAGATGATCCATCAGCAGAGGGAC) c.63+62_63+63insCCCCAGCAGATGATCCATCAGCAGAGGGAC n.778_779insCCCCAGCAGATGATCCATCAGCAGAGGGAC | gnomAD v4 |
| 7 | g.24717204_24717205insAGGATCCTCTGCTGGGGGTCCCTCTGCTGA | CA2682082219 | GSDME | c.697+62_697+63insCCCCAGCAGAGGATCCTTCAGCAGAGGGAC (n.697+62_697+63insCCCCAGCAGAGGATCCTTCAGCAGAGGGAC) c.205+62_205+63insCCCCAGCAGAGGATCCTTCAGCAGAGGGAC (n.205+62_205+63insCCCCAGCAGAGGATCCTTCAGCAGAGGGAC) n.466+62_466+63insCCCCAGCAGAGGATCCTTCAGCAGAGGGAC c.171+62_171+63insCCCCAGCAGAGGATCCTTCAGCAGAGGGAC n.392+62_392+63insCCCCAGCAGAGGATCCTTCAGCAGAGGGAC c.466+62_466+63insCCCCAGCAGAGGATCCTTCAGCAGAGGGAC (n.466+62_466+63insCCCCAGCAGAGGATCCTTCAGCAGAGGGAC) c.63+62_63+63insCCCCAGCAGAGGATCCTTCAGCAGAGGGAC n.778_779insCCCCAGCAGAGGATCCTTCAGCAGAGGGAC | gnomAD v4 |
| 7 | g.24717205_24717206insCGATCCTCTGCTGGGGGTCCCTCTGCTGAG | CA2682082218 | GSDME | c.697+62_697+63insCCCCAGCAGAGGATCGCTCAGCAGAGGGAC (n.697+62_697+63insCCCCAGCAGAGGATCGCTCAGCAGAGGGAC) c.205+62_205+63insCCCCAGCAGAGGATCGCTCAGCAGAGGGAC (n.205+62_205+63insCCCCAGCAGAGGATCGCTCAGCAGAGGGAC) n.466+62_466+63insCCCCAGCAGAGGATCGCTCAGCAGAGGGAC c.171+62_171+63insCCCCAGCAGAGGATCGCTCAGCAGAGGGAC n.392+62_392+63insCCCCAGCAGAGGATCGCTCAGCAGAGGGAC c.466+62_466+63insCCCCAGCAGAGGATCGCTCAGCAGAGGGAC (n.466+62_466+63insCCCCAGCAGAGGATCGCTCAGCAGAGGGAC) c.63+62_63+63insCCCCAGCAGAGGATCGCTCAGCAGAGGGAC n.778_779insCCCCAGCAGAGGATCGCTCAGCAGAGGGAC | gnomAD v4 |
| 7 | g.24717205_24717206insTGATCCTCTGCTGGGGGTCCCTCTGCTGAG | CA2682082158 | GSDME | c.697+62_697+63insCCCCAGCAGAGGATCACTCAGCAGAGGGAC (n.697+62_697+63insCCCCAGCAGAGGATCACTCAGCAGAGGGAC) c.205+62_205+63insCCCCAGCAGAGGATCACTCAGCAGAGGGAC (n.205+62_205+63insCCCCAGCAGAGGATCACTCAGCAGAGGGAC) n.466+62_466+63insCCCCAGCAGAGGATCACTCAGCAGAGGGAC c.171+62_171+63insCCCCAGCAGAGGATCACTCAGCAGAGGGAC n.392+62_392+63insCCCCAGCAGAGGATCACTCAGCAGAGGGAC c.466+62_466+63insCCCCAGCAGAGGATCACTCAGCAGAGGGAC (n.466+62_466+63insCCCCAGCAGAGGATCACTCAGCAGAGGGAC) c.63+62_63+63insCCCCAGCAGAGGATCACTCAGCAGAGGGAC n.778_779insCCCCAGCAGAGGATCACTCAGCAGAGGGAC | gnomAD v4 |
| 7 | g.24717205_24717206insTGATCCTCTGCTGGGGGTCCCTCTGCTGAGGGATCCTCTGCTGGGGGTCCCTCTGCTGAG | CA1099433649 | GSDME | c.697+62_697+63insCCCCAGCAGAGGATCCCTCAGCAGAGGGACCCCCAGCAGAGGATCACTCAGCAGAGGGAC (n.697+62_697+63insCCCCAGCAGAGGATCCCTCAGCAGAGGGACCCCCAGCAGAGGATCACTCAGCAGAGGGAC) c.205+62_205+63insCCCCAGCAGAGGATCCCTCAGCAGAGGGACCCCCAGCAGAGGATCACTCAGCAGAGGGAC (n.205+62_205+63insCCCCAGCAGAGGATCCCTCAGCAGAGGGACCCCCAGCAGAGGATCACTCAGCAGAGGGAC) n.466+62_466+63insCCCCAGCAGAGGATCCCTCAGCAGAGGGACCCCCAGCAGAGGATCACTCAGCAGAGGGAC c.171+62_171+63insCCCCAGCAGAGGATCCCTCAGCAGAGGGACCCCCAGCAGAGGATCACTCAGCAGAGGGAC n.392+62_392+63insCCCCAGCAGAGGATCCCTCAGCAGAGGGACCCCCAGCAGAGGATCACTCAGCAGAGGGAC c.466+62_466+63insCCCCAGCAGAGGATCCCTCAGCAGAGGGACCCCCAGCAGAGGATCACTCAGCAGAGGGAC (n.466+62_466+63insCCCCAGCAGAGGATCCCTCAGCAGAGGGACCCCCAGCAGAGGATCACTCAGCAGAGGGAC) c.63+62_63+63insCCCCAGCAGAGGATCCCTCAGCAGAGGGACCCCCAGCAGAGGATCACTCAGCAGAGGGAC n.778_779insCCCCAGCAGAGGATCCCTCAGCAGAGGGACCCCCAGCAGAGGATCACTCAGCAGAGGGAC | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.24717206_24717207insAATCCTCTGCTGGGGGTCCCTCTGCTGAGG | CA2682082217 | GSDME | c.697+62_697+63insCCCCAGCAGAGGATTCCTCAGCAGAGGGAC (n.697+62_697+63insCCCCAGCAGAGGATTCCTCAGCAGAGGGAC) c.205+62_205+63insCCCCAGCAGAGGATTCCTCAGCAGAGGGAC (n.205+62_205+63insCCCCAGCAGAGGATTCCTCAGCAGAGGGAC) n.466+62_466+63insCCCCAGCAGAGGATTCCTCAGCAGAGGGAC c.171+62_171+63insCCCCAGCAGAGGATTCCTCAGCAGAGGGAC n.392+62_392+63insCCCCAGCAGAGGATTCCTCAGCAGAGGGAC c.466+62_466+63insCCCCAGCAGAGGATTCCTCAGCAGAGGGAC (n.466+62_466+63insCCCCAGCAGAGGATTCCTCAGCAGAGGGAC) c.63+62_63+63insCCCCAGCAGAGGATTCCTCAGCAGAGGGAC n.778_779insCCCCAGCAGAGGATTCCTCAGCAGAGGGAC | gnomAD v4 |
| 7 | g.24717206_24717207insCATCCTCTGCTGGGGGTCCCTCTGCTGAGG | CA2682082216 | GSDME | c.697+62_697+63insCCCCAGCAGAGGATGCCTCAGCAGAGGGAC (n.697+62_697+63insCCCCAGCAGAGGATGCCTCAGCAGAGGGAC) c.205+62_205+63insCCCCAGCAGAGGATGCCTCAGCAGAGGGAC (n.205+62_205+63insCCCCAGCAGAGGATGCCTCAGCAGAGGGAC) n.466+62_466+63insCCCCAGCAGAGGATGCCTCAGCAGAGGGAC c.171+62_171+63insCCCCAGCAGAGGATGCCTCAGCAGAGGGAC n.392+62_392+63insCCCCAGCAGAGGATGCCTCAGCAGAGGGAC c.466+62_466+63insCCCCAGCAGAGGATGCCTCAGCAGAGGGAC (n.466+62_466+63insCCCCAGCAGAGGATGCCTCAGCAGAGGGAC) c.63+62_63+63insCCCCAGCAGAGGATGCCTCAGCAGAGGGAC n.778_779insCCCCAGCAGAGGATGCCTCAGCAGAGGGAC | gnomAD v4 |
| 7 | g.24717206_24717207insTATCCTCTGCTGGGGGTCCCTCTGCTGAGG | CA2682082156 | GSDME | c.697+62_697+63insCCCCAGCAGAGGATACCTCAGCAGAGGGAC (n.697+62_697+63insCCCCAGCAGAGGATACCTCAGCAGAGGGAC) c.205+62_205+63insCCCCAGCAGAGGATACCTCAGCAGAGGGAC (n.205+62_205+63insCCCCAGCAGAGGATACCTCAGCAGAGGGAC) n.466+62_466+63insCCCCAGCAGAGGATACCTCAGCAGAGGGAC c.171+62_171+63insCCCCAGCAGAGGATACCTCAGCAGAGGGAC n.392+62_392+63insCCCCAGCAGAGGATACCTCAGCAGAGGGAC c.466+62_466+63insCCCCAGCAGAGGATACCTCAGCAGAGGGAC (n.466+62_466+63insCCCCAGCAGAGGATACCTCAGCAGAGGGAC) c.63+62_63+63insCCCCAGCAGAGGATACCTCAGCAGAGGGAC n.778_779insCCCCAGCAGAGGATACCTCAGCAGAGGGAC | gnomAD v4 |