Chr Mutation (hg38) CAid Gene Transcript Linkouts
22g.42693221C>ACA411811481A4GALTc.731G>T (p.Trp244Leu)
22g.42693221C>GCA411811482A4GALTc.731G>C (p.Trp244Ser)
22g.42693221C>TCA411811483A4GALTc.731G>A (p.Trp244Ter)
22g.42693222A>CCA411811484A4GALTc.730T>G (p.Trp244Gly)
22g.42693222A>GCA411811485A4GALTc.730T>C (p.Trp244Arg)
22g.42693222A>TCA411811486A4GALTc.730T>A (p.Trp244Arg)
22g.42693223G>ACA515070832A4GALTc.729C>T (p.Gly243=)
22g.42693223G>CCA515070834A4GALTc.729C>G (p.Gly243=)
22g.42693223G>TCA515070836A4GALTc.729C>A (p.Gly243=)
22g.42693224C>ACA411811489A4GALTc.728G>T (p.Gly243Val)
gnomAD
22g.42693224C=CA2406870183A4GALTc.728G= (p.Gly243=)
22g.42693224C>GCA411811488A4GALTc.728G>C (p.Gly243Ala)
22g.42693224C>TCA411811487A4GALTc.728G>A (p.Gly243Asp)
22g.42693225C>ACA411811490A4GALTc.727G>T (p.Gly243Cys)
gnomAD
22g.42693225C=CA2406870184A4GALTc.727G= (p.Gly243=)
22g.42693225C>GCA411811491A4GALTc.727G>C (p.Gly243Arg)
gnomAD
22g.42693225C>TCA411811492A4GALTc.727G>A (p.Gly243Ser)
22g.42693226G>ACA10270229A4GALTc.726C>T (p.Asn242=)
dbSNP ExAC gnomAD
22g.42693226G>CCA411811493A4GALTc.726C>G (p.Asn242Lys)
gnomAD
22g.42693226G=CA2406870185A4GALTc.726C= (p.Asn242=)
22g.42693226G>TCA411811494A4GALTc.726C>A (p.Asn242Lys)
22g.42693227T>ACA411811496A4GALTc.725A>T (p.Asn242Ile)
22g.42693227T>CCA10270230A4GALTc.725A>G (p.Asn242Ser)
dbSNP ExAC gnomAD
22g.42693227T>GCA411811495A4GALTc.725A>C (p.Asn242Thr)
22g.42693227T=CA2406870186A4GALTc.725A= (p.Asn242=)
22g.42693228T>ACA411811497A4GALTc.724A>T (p.Asn242Tyr)
22g.42693228T>CCA411811498A4GALTc.724A>G (p.Asn242Asp)
22g.42693228T>GCA411811499A4GALTc.724A>C (p.Asn242His)
22g.42693228T=CA2406870187A4GALTc.724A= (p.Asn242=)
22g.42693229G>ACA515070852A4GALTc.723C>T (p.Tyr241=)
22g.42693229G>CCA411811500A4GALTc.723C>G (p.Tyr241Ter)
22g.42693229G=CA2406870188A4GALTc.723C= (p.Tyr241=)
22g.42693229G>TCA411811501A4GALTc.723C>A (p.Tyr241Ter)
gnomAD
22g.42693230T>ACA411811504A4GALTc.722A>T (p.Tyr241Phe)
22g.42693230T>CCA411811502A4GALTc.722A>G (p.Tyr241Cys)
22g.42693230T>GCA411811503A4GALTc.722A>C (p.Tyr241Ser)
22g.42693231A>CCA411811506A4GALTc.721T>G (p.Tyr241Asp)
22g.42693231A>GCA411811508A4GALTc.721T>C (p.Tyr241His)
22g.42693231A>TCA411811510A4GALTc.721T>A (p.Tyr241Asn)
22g.42693232G>ACA515070855A4GALTc.720C>T (p.His240=)
22g.42693232G>CCA411811511A4GALTc.720C>G (p.His240Gln)
22g.42693232G>TCA411811514A4GALTc.720C>A (p.His240Gln)
22g.42693233T>ACA411811516A4GALTc.719A>T (p.His240Leu)
22g.42693233T>CCA411811518A4GALTc.719A>G (p.His240Arg)
gnomAD
22g.42693233T>GCA411811520A4GALTc.719A>C (p.His240Pro)
22g.42693233T=CA2406870189A4GALTc.719A= (p.His240=)
22g.42693234G>ACA411811522A4GALTc.718C>T (p.His240Tyr)
22g.42693234G>CCA411811524A4GALTc.718C>G (p.His240Asp)
22g.42693234G=CA2406870190A4GALTc.718C= (p.His240=)
22g.42693234G>TCA10270231A4GALTc.718C>A (p.His240Asn)
dbSNP ExAC gnomAD

Number of alleles fetched