| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.29917575_29917585delinsGAGTTTGGGAA | CA2421903075 | IL1RAPL1 | c.890_900delinsGAGTTTGGGAA (p.Arg297=) c.113_123delinsGAGTTTGGGAA (p.Arg38=) c.512_522delinsGAGTTTGGGAA (p.Arg171=) | |
| X | g.29917576A>C | CA515840661 | IL1RAPL1 | c.891A>C (p.Arg297=) c.114A>C (p.Arg38=) c.513A>C (p.Arg171=) | |
| X | g.29917576A>G | CA515840662 | IL1RAPL1 | c.891A>G (p.Arg297=) c.114A>G (p.Arg38=) c.513A>G (p.Arg171=) | |
| X | g.29917576A>T | CA515840663 | IL1RAPL1 | c.891A>T (p.Arg297=) c.114A>T (p.Arg38=) c.513A>T (p.Arg171=) | |
| X | g.29917579_29917588del | CA10581462 | IL1RAPL1 | c.894_903del (p.Trp299ThrfsTer18) c.117_126del (p.Trp40ThrfsTer18) c.516_525del (p.Trp173ThrfsTer18) | ClinVar dbSNP |
| X | g.29917577G>A | CA412635995 | IL1RAPL1 | c.892G>A (p.Val298Ile) c.115G>A (p.Val39Ile) c.514G>A (p.Val172Ile) | |
| X | g.29917577G>C | CA412635997 | IL1RAPL1 | c.892G>C (p.Val298Leu) c.115G>C (p.Val39Leu) c.514G>C (p.Val172Leu) | |
| X | g.29917577G>T | CA412635996 | IL1RAPL1 | c.892G>T (p.Val298Phe) c.115G>T (p.Val39Phe) c.514G>T (p.Val172Phe) | |
| X | g.29917578T>A | CA412635998 | IL1RAPL1 | c.893T>A (p.Val298Asp) c.116T>A (p.Val39Asp) c.515T>A (p.Val172Asp) | |
| X | g.29917578T>C | CA412635999 | IL1RAPL1 | c.893T>C (p.Val298Ala) c.116T>C (p.Val39Ala) c.515T>C (p.Val172Ala) | |
| X | g.29917578T>G | CA412636000 | IL1RAPL1 | c.893T>G (p.Val298Gly) c.116T>G (p.Val39Gly) c.515T>G (p.Val172Gly) | |
| X | g.29917579T>A | CA515840664 | IL1RAPL1 | c.894T>A (p.Val298=) c.117T>A (p.Val39=) c.516T>A (p.Val172=) | |
| X | g.29917579T>C | CA515840665 | IL1RAPL1 | c.894T>C (p.Val298=) c.117T>C (p.Val39=) c.516T>C (p.Val172=) | |
| X | g.29917579T>G | CA515840666 | IL1RAPL1 | c.894T>G (p.Val298=) c.117T>G (p.Val39=) c.516T>G (p.Val172=) | COSMIC COSMIC |
| X | g.29917580T>A | CA412636001 | IL1RAPL1 | c.895T>A (p.Trp299Arg) c.118T>A (p.Trp40Arg) c.517T>A (p.Trp173Arg) | |
| X | g.29917580T>C | CA412636002 | IL1RAPL1 | c.895T>C (p.Trp299Arg) c.118T>C (p.Trp40Arg) c.517T>C (p.Trp173Arg) | |
| X | g.29917580T>G | CA412636003 | IL1RAPL1 | c.895T>G (p.Trp299Gly) c.118T>G (p.Trp40Gly) c.517T>G (p.Trp173Gly) | |
| X | g.29917581G>A | CA412636004 | IL1RAPL1 | c.896G>A (p.Trp299Ter) c.119G>A (p.Trp40Ter) c.518G>A (p.Trp173Ter) | |
| X | g.29917581G>C | CA412636005 | IL1RAPL1 | c.896G>C (p.Trp299Ser) c.119G>C (p.Trp40Ser) c.518G>C (p.Trp173Ser) | |
| X | g.29917581G>T | CA412636006 | IL1RAPL1 | c.896G>T (p.Trp299Leu) c.119G>T (p.Trp40Leu) c.518G>T (p.Trp173Leu) | |
| X | g.29917582G>A | CA412636009 | IL1RAPL1 | c.897G>A (p.Trp299Ter) c.120G>A (p.Trp40Ter) c.519G>A (p.Trp173Ter) | |
| X | g.29917582G>C | CA412636008 | IL1RAPL1 | c.897G>C (p.Trp299Cys) c.120G>C (p.Trp40Cys) c.519G>C (p.Trp173Cys) | |
| X | g.29917582G>T | CA412636007 | IL1RAPL1 | c.897G>T (p.Trp299Cys) c.120G>T (p.Trp40Cys) c.519G>T (p.Trp173Cys) | |
| X | g.29917583G>A | CA412636010 | IL1RAPL1 | c.898G>A (p.Glu300Lys) c.121G>A (p.Glu41Lys) c.520G>A (p.Glu174Lys) | |
| X | g.29917583G>C | CA412636011 | IL1RAPL1 | c.898G>C (p.Glu300Gln) c.121G>C (p.Glu41Gln) c.520G>C (p.Glu174Gln) | |
| X | g.29917583G>T | CA412636012 | IL1RAPL1 | c.898G>T (p.Glu300Ter) c.121G>T (p.Glu41Ter) c.520G>T (p.Glu174Ter) | |
| X | g.29917584A>C | CA412636013 | IL1RAPL1 | c.899A>C (p.Glu300Ala) c.122A>C (p.Glu41Ala) c.521A>C (p.Glu174Ala) | |
| X | g.29917584A>G | CA412636014 | IL1RAPL1 | c.899A>G (p.Glu300Gly) c.122A>G (p.Glu41Gly) c.521A>G (p.Glu174Gly) | |
| X | g.29917584A>T | CA412636015 | IL1RAPL1 | c.899A>T (p.Glu300Val) c.122A>T (p.Glu41Val) c.521A>T (p.Glu174Val) | |
| X | g.29917585A>C | CA412636016 | IL1RAPL1 | c.900A>C (p.Glu300Asp) c.123A>C (p.Glu41Asp) c.522A>C (p.Glu174Asp) | |
| X | g.29917585A>G | CA515840667 | IL1RAPL1 | c.900A>G (p.Glu300=) c.123A>G (p.Glu41=) c.522A>G (p.Glu174=) | |
| X | g.29917585A>T | CA412636017 | IL1RAPL1 | c.900A>T (p.Glu300Asp) c.123A>T (p.Glu41Asp) c.522A>T (p.Glu174Asp) | |
| X | g.29917586A>C | CA412636018 | IL1RAPL1 | c.901A>C (p.Ser301Arg) c.124A>C (p.Ser42Arg) c.523A>C (p.Ser175Arg) | |
| X | g.29917586A>G | CA412636019 | IL1RAPL1 | c.901A>G (p.Ser301Gly) c.124A>G (p.Ser42Gly) c.523A>G (p.Ser175Gly) | |
| X | g.29917586A>T | CA412636020 | IL1RAPL1 | c.901A>T (p.Ser301Cys) c.124A>T (p.Ser42Cys) c.523A>T (p.Ser175Cys) | |
| X | g.29917587G>A | CA412636021 | IL1RAPL1 | c.902G>A (p.Ser301Asn) c.125G>A (p.Ser42Asn) c.524G>A (p.Ser175Asn) | |
| X | g.29917587G>C | CA412636022 | IL1RAPL1 | c.902G>C (p.Ser301Thr) c.125G>C (p.Ser42Thr) c.524G>C (p.Ser175Thr) | |
| X | g.29917587G>T | CA412636023 | IL1RAPL1 | c.902G>T (p.Ser301Ile) c.125G>T (p.Ser42Ile) c.524G>T (p.Ser175Ile) | |
| X | g.29917588T>A | CA412636024 | IL1RAPL1 | c.903T>A (p.Ser301Arg) c.126T>A (p.Ser42Arg) c.525T>A (p.Ser175Arg) | |
| X | g.29917588T>C | CA515840668 | IL1RAPL1 | c.903T>C (p.Ser301=) c.126T>C (p.Ser42=) c.525T>C (p.Ser175=) | |
| X | g.29917588T>G | CA412636025 | IL1RAPL1 | c.903T>G (p.Ser301Arg) c.126T>G (p.Ser42Arg) c.525T>G (p.Ser175Arg) | |
| X | g.29917589G>A | CA10375495 | IL1RAPL1 | c.904G>A (p.Asp302Asn) c.127G>A (p.Asp43Asn) c.526G>A (p.Asp176Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.29917589G>C | CA412636026 | IL1RAPL1 | c.904G>C (p.Asp302His) c.127G>C (p.Asp43His) c.526G>C (p.Asp176His) | |
| X | g.29917589G= | CA2421903076 | IL1RAPL1 | c.904G= (p.Asp302=) c.127G= (p.Asp43=) c.526G= (p.Asp176=) | |
| X | g.29917589G>T | CA412636027 | IL1RAPL1 | c.904G>T (p.Asp302Tyr) c.127G>T (p.Asp43Tyr) c.526G>T (p.Asp176Tyr) | |
| X | g.29917590A>C | CA412636028 | IL1RAPL1 | c.905A>C (p.Asp302Ala) c.128A>C (p.Asp43Ala) c.527A>C (p.Asp176Ala) | |
| X | g.29917590A>G | CA412636029 | IL1RAPL1 | c.905A>G (p.Asp302Gly) c.128A>G (p.Asp43Gly) c.527A>G (p.Asp176Gly) | |
| X | g.29917590A>T | CA412636030 | IL1RAPL1 | c.905A>T (p.Asp302Val) c.128A>T (p.Asp43Val) c.527A>T (p.Asp176Val) | |
| X | g.29917591C>A | CA412636031 | IL1RAPL1 | c.906C>A (p.Asp302Glu) c.129C>A (p.Asp43Glu) c.528C>A (p.Asp176Glu) | |
| X | g.29917591C= | CA2421903077 | IL1RAPL1 | c.906C= (p.Asp302=) c.129C= (p.Asp43=) c.528C= (p.Asp176=) |