Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.154928568T>CCA873340051F8c.5219+3A>G (p.=)
c.5114+3A>G (p.=)
Xg.154928568T=CA2466835726F8c.5219+3A= (p.=)
c.5114+3A= (p.=)
Xg.154928569A=CA2466835727F8c.5219+2T= (p.=)
c.5114+2T= (p.=)
Xg.154928569A>CCA414913412F8c.5219+2T>G (p.=)
c.5114+2T>G (p.=)
Xg.154928569A>GCA414913416F8c.5219+2T>C (p.=)
c.5114+2T>C (p.=)
ClinVar
Xg.154928569A>TCA414913414F8c.5219+2T>A (p.=)
c.5114+2T>A (p.=)
Xg.154928570C>ACA414913418F8c.5219+1G>T (p.=)
c.5114+1G>T (p.=)
Xg.154928570C=CA2466835728F8c.5219+1G= (p.=)
c.5114+1G= (p.=)
Xg.154928570C>GCA414913422F8c.5219+1G>C (p.=)
c.5114+1G>C (p.=)
Xg.154928570C>TCA414913420F8c.5219+1G>A (p.=)
c.5114+1G>A (p.=)
ClinVar
Xg.154928571C>ACA414913424F8c.5219G>T (p.Arg1740Met)
c.5114G>T (p.Arg1705Met)
Xg.154928571C=CA2466835729F8c.5219G= (p.Arg1740=)
c.5114G= (p.Arg1705=)
Xg.154928571C>GCA414913427F8c.5219G>C (p.Arg1740Thr)
c.5114G>C (p.Arg1705Thr)
Xg.154928571C>TCA414913426F8c.5219G>A (p.Arg1740Lys)
c.5114G>A (p.Arg1705Lys)
Xg.154928572T>ACA414913429F8c.5218A>T (p.Arg1740Trp)
c.5113A>T (p.Arg1705Trp)
Xg.154928572T>CCA414913430F8c.5218A>G (p.Arg1740Gly)
c.5113A>G (p.Arg1705Gly)
Xg.154928572T>GCA519374732F8c.5218A>C (p.Arg1740=)
c.5113A>C (p.Arg1705=)
Xg.154928573G>ACA519374734F8c.5217C>T (p.Asn1739=)
c.5112C>T (p.Asn1704=)
ClinVar
Xg.154928573G>CCA414913431F8c.5217C>G (p.Asn1739Lys)
c.5112C>G (p.Asn1704Lys)
Xg.154928573G=CA2466835730F8c.5217C= (p.Asn1739=)
c.5112C= (p.Asn1704=)
Xg.154928573G>TCA414913433F8c.5217C>A (p.Asn1739Lys)
c.5112C>A (p.Asn1704Lys)
Xg.154928574T>ACA414913435F8c.5216A>T (p.Asn1739Ile)
c.5111A>T (p.Asn1704Ile)
Xg.154928574T>CCA414913436F8c.5216A>G (p.Asn1739Ser)
c.5111A>G (p.Asn1704Ser)
Xg.154928574T>GCA414913438F8c.5216A>C (p.Asn1739Thr)
c.5111A>C (p.Asn1704Thr)
Xg.154928575T>ACA414913440F8c.5215A>T (p.Asn1739Tyr)
c.5110A>T (p.Asn1704Tyr)
Xg.154928575T>CCA414913442F8c.5215A>G (p.Asn1739Asp)
c.5110A>G (p.Asn1704Asp)
Xg.154928575T>GCA414913444F8c.5215A>C (p.Asn1739His)
c.5110A>C (p.Asn1704His)
Xg.154928576T>ACA414913448F8c.5214A>T (p.Arg1738Ser)
c.5109A>T (p.Arg1703Ser)
Xg.154928576T>CCA519374735F8c.5214A>G (p.Arg1738=)
c.5109A>G (p.Arg1703=)
Xg.154928576T>GCA414913447F8c.5214A>C (p.Arg1738Ser)
c.5109A>C (p.Arg1703Ser)
Xg.154928577delCA1139532038F8c.5213del (p.Arg1738LysfsTer?)
c.5108del (p.Arg1703LysfsTer?)
Xg.154928577C>ACA414913450F8c.5213G>T (p.Arg1738Ile)
c.5108G>T (p.Arg1703Ile)
Xg.154928577C>GCA414913452F8c.5213G>C (p.Arg1738Thr)
c.5108G>C (p.Arg1703Thr)
Xg.154928577C>TCA414913454F8c.5213G>A (p.Arg1738Lys)
c.5108G>A (p.Arg1703Lys)
COSMIC COSMIC
Xg.154928577_154928578delinsCTCA2466835731F8c.5212_5213delinsAG (p.Arg1738=)
c.5107_5108delinsAG (p.Arg1703=)
Xg.154928578T>ACA414913456F8c.5212A>T (p.Arg1738Ter)
c.5107A>T (p.Arg1703Ter)
Xg.154928578T>CCA414913458F8c.5212A>G (p.Arg1738Gly)
c.5107A>G (p.Arg1703Gly)
Xg.154928578T>GCA519374736F8c.5212A>C (p.Arg1738=)
c.5107A>C (p.Arg1703=)
Xg.154928579delCA2466835732F8c.5212del (p.Arg1738GlufsTer?)
c.5107del (p.Arg1703GlufsTer?)
dbSNP
Xg.154928579T>ACA519374737F8c.5211A>T (p.Leu1737=)
c.5106A>T (p.Leu1702=)
Xg.154928579T>CCA519374738F8c.5211A>G (p.Leu1737=)
c.5106A>G (p.Leu1702=)
gnomAD
Xg.154928579T>GCA519374739F8c.5211A>C (p.Leu1737=)
c.5106A>C (p.Leu1702=)
Xg.154928579T=CA2466835733F8c.5211A= (p.Leu1737=)
c.5106A= (p.Leu1702=)
Xg.154928580A>CCA414913460F8c.5210T>G (p.Leu1737Arg)
c.5105T>G (p.Leu1702Arg)
Xg.154928580A>GCA414913462F8c.5210T>C (p.Leu1737Pro)
c.5105T>C (p.Leu1702Pro)
Xg.154928580A>TCA414913464F8c.5210T>A (p.Leu1737Gln)
c.5105T>A (p.Leu1702Gln)
Xg.154928581G>ACA519374740F8c.5209C>T (p.Leu1737=)
c.5104C>T (p.Leu1702=)
COSMIC COSMIC
Xg.154928581G>CCA414913466F8c.5209C>G (p.Leu1737Val)
c.5104C>G (p.Leu1702Val)
Xg.154928581G>TCA414913467F8c.5209C>A (p.Leu1737Ile)
c.5104C>A (p.Leu1702Ile)
Xg.154928582A>CCA519374743F8c.5208T>G (p.Val1736=)
c.5103T>G (p.Val1701=)

Number of alleles fetched