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.29917579_29917588del | CA10581462 | IL1RAPL1 | c.894_903del (p.Trp299ThrfsTer18) c.117_126del (p.Trp40ThrfsTer18) c.516_525del (p.Trp173ThrfsTer18) | ClinVar dbSNP |
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=) | |
X | g.29917591C>G | CA412636032 | IL1RAPL1 | c.906C>G (p.Asp302Glu) c.129C>G (p.Asp43Glu) c.528C>G (p.Asp176Glu) | |
X | g.29917591C>T | CA515840669 | IL1RAPL1 | c.906C>T (p.Asp302=) c.129C>T (p.Asp43=) c.528C>T (p.Asp176=) | dbSNP gnomAD v4 |
X | g.29917592A= | CA2421903078 | IL1RAPL1 | c.907A= (p.Ile303=) c.130A= (p.Ile44=) c.529A= (p.Ile177=) | |
X | g.29917592A>C | CA412636033 | IL1RAPL1 | c.907A>C (p.Ile303Leu) c.130A>C (p.Ile44Leu) c.529A>C (p.Ile177Leu) | |
X | g.29917592A>G | CA10375496 | IL1RAPL1 | c.907A>G (p.Ile303Val) c.130A>G (p.Ile44Val) c.529A>G (p.Ile177Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.29917592A>T | CA412636034 | IL1RAPL1 | c.907A>T (p.Ile303Phe) c.130A>T (p.Ile44Phe) c.529A>T (p.Ile177Phe) | |
X | g.29917593T>A | CA412636037 | IL1RAPL1 | c.908T>A (p.Ile303Asn) c.131T>A (p.Ile44Asn) c.530T>A (p.Ile177Asn) | |
X | g.29917593T>C | CA412636036 | IL1RAPL1 | c.908T>C (p.Ile303Thr) c.131T>C (p.Ile44Thr) c.530T>C (p.Ile177Thr) | |
X | g.29917593T>G | CA412636035 | IL1RAPL1 | c.908T>G (p.Ile303Ser) c.131T>G (p.Ile44Ser) c.530T>G (p.Ile177Ser) | |
X | g.29917594T>A | CA515840671 | IL1RAPL1 | c.909T>A (p.Ile303=) c.132T>A (p.Ile44=) c.531T>A (p.Ile177=) | |
X | g.29917594T>C | CA515840670 | IL1RAPL1 | c.909T>C (p.Ile303=) c.132T>C (p.Ile44=) c.531T>C (p.Ile177=) | |
X | g.29917594T>G | CA412636038 | IL1RAPL1 | c.909T>G (p.Ile303Met) c.132T>G (p.Ile44Met) c.531T>G (p.Ile177Met) | |
X | g.29917595A>C | CA515840672 | IL1RAPL1 | c.910A>C (p.Arg304=) c.133A>C (p.Arg45=) c.532A>C (p.Arg178=) | |
X | g.29917595A>G | CA412636040 | IL1RAPL1 | c.910A>G (p.Arg304Gly) c.133A>G (p.Arg45Gly) c.532A>G (p.Arg178Gly) | gnomAD v4 |
X | g.29917595A>T | CA412636039 | IL1RAPL1 | c.910A>T (p.Arg304Ter) c.133A>T (p.Arg45Ter) c.532A>T (p.Arg178Ter) | |
X | g.29917596G>A | CA412636041 | IL1RAPL1 | c.911G>A (p.Arg304Lys) c.134G>A (p.Arg45Lys) c.533G>A (p.Arg178Lys) | |
X | g.29917596G>C | CA412636042 | IL1RAPL1 | c.911G>C (p.Arg304Thr) c.134G>C (p.Arg45Thr) c.533G>C (p.Arg178Thr) | |
X | g.29917596G>T | CA412636043 | IL1RAPL1 | c.911G>T (p.Arg304Ile) c.134G>T (p.Arg45Ile) c.533G>T (p.Arg178Ile) | |
X | g.29917597G>A | CA412636044 | IL1RAPL1 | c.911+1G>A (n.911+1G>A) c.134+1G>A (n.134+1G>A) c.533+1G>A (n.533+1G>A) | |
X | g.29917597G>C | CA412636045 | IL1RAPL1 | c.911+1G>C (n.911+1G>C) c.134+1G>C (n.134+1G>C) c.533+1G>C (n.533+1G>C) | |
X | g.29917597G>T | CA412636046 | IL1RAPL1 | c.911+1G>T (n.911+1G>T) c.134+1G>T (n.134+1G>T) c.533+1G>T (n.533+1G>T) | |
X | g.29917599_29917600insTAGTA | CA2559067919 | IL1RAPL1 | c.911+3_911+4insTAGTA (n.911+3_911+4insTAGTA) c.134+3_134+4insTAGTA (n.134+3_134+4insTAGTA) c.533+3_533+4insTAGTA (n.533+3_533+4insTAGTA) | |
X | g.29917598T>A | CA412636047 | IL1RAPL1 | c.911+2T>A (n.911+2T>A) c.134+2T>A (n.134+2T>A) c.533+2T>A (n.533+2T>A) | |
X | g.29917598T>C | CA412636048 | IL1RAPL1 | c.911+2T>C (n.911+2T>C) c.134+2T>C (n.134+2T>C) c.533+2T>C (n.533+2T>C) | |
X | g.29917598T>G | CA412636049 | IL1RAPL1 | c.911+2T>G (n.911+2T>G) c.134+2T>G (n.134+2T>G) c.533+2T>G (n.533+2T>G) | |
X | g.29917600A= | CA2421903080 | IL1RAPL1 | c.911+4A= (n.911+4A=) c.134+4A= (n.134+4A=) c.533+4A= (n.533+4A=) | |
X | g.29917600A>T | CA641153599 | IL1RAPL1 | c.911+4A>T (n.911+4A>T) c.134+4A>T (n.134+4A>T) c.533+4A>T (n.533+4A>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |