Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.24178397_24178399delCA2677514363DCDC2c.1261_1263del (p.Asn421del)
c.520_522del (p.Asn174del)
gnomAD v4
6g.24178395delCA1616325705DCDC2c.1262del (p.Asn421MetfsTer7)
c.521del (p.Asn174MetfsTer7)
dbSNP
6g.24178395T>ACA363279858DCDC2c.1261A>T (p.Asn421Tyr)
c.520A>T (p.Asn174Tyr)
6g.24178395T>CCA363279859DCDC2c.1261A>G (p.Asn421Asp)
c.520A>G (p.Asn174Asp)
6g.24178395T>GCA363279860DCDC2c.1261A>C (p.Asn421His)
c.520A>C (p.Asn174His)
6g.24178396A=CA1616325708DCDC2c.1260T= (p.Asn420=)
c.519T= (p.Asn173=)
6g.24178396A>CCA363279862DCDC2c.1260T>G (p.Asn420Lys)
c.519T>G (p.Asn173Lys)
6g.24178396A>GCA448963236DCDC2c.1260T>C (p.Asn420=)
c.519T>C (p.Asn173=)
dbSNP gnomAD v4
6g.24178396A>TCA363279861DCDC2c.1260T>A (p.Asn420Lys)
c.519T>A (p.Asn173Lys)
6g.24178397T>ACA363279863DCDC2c.1259A>T (p.Asn420Ile)
c.518A>T (p.Asn173Ile)
6g.24178397T>CCA363279864DCDC2c.1259A>G (p.Asn420Ser)
c.518A>G (p.Asn173Ser)
6g.24178397T>GCA363279865DCDC2c.1259A>C (p.Asn420Thr)
c.518A>C (p.Asn173Thr)
6g.24178398T>ACA363279866DCDC2c.1258A>T (p.Asn420Tyr)
c.517A>T (p.Asn173Tyr)
6g.24178398T>CCA363279867DCDC2c.1258A>G (p.Asn420Asp)
c.517A>G (p.Asn173Asp)
6g.24178398T>GCA363279868DCDC2c.1258A>C (p.Asn420His)
c.517A>C (p.Asn173His)
6g.24178399A>CCA448963237DCDC2c.1257T>G (p.Val419=)
c.516T>G (p.Val172=)
6g.24178399A>GCA448963238DCDC2c.1257T>C (p.Val419=)
c.516T>C (p.Val172=)
6g.24178399A>TCA448963239DCDC2c.1257T>A (p.Val419=)
c.516T>A (p.Val172=)
6g.24178400A>CCA363279871DCDC2c.1256T>G (p.Val419Gly)
c.515T>G (p.Val172Gly)
6g.24178400A>GCA363279869DCDC2c.1256T>C (p.Val419Ala)
c.515T>C (p.Val172Ala)
6g.24178400A>TCA363279870DCDC2c.1256T>A (p.Val419Asp)
c.515T>A (p.Val172Asp)
dbSNP
6g.24178401C>ACA3654472DCDC2c.1255G>T (p.Val419Phe)
c.514G>T (p.Val172Phe)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.24178401C=CA1616325713DCDC2c.1255G= (p.Val419=)
c.514G= (p.Val172=)
6g.24178401C>GCA363279872DCDC2c.1255G>C (p.Val419Leu)
c.514G>C (p.Val172Leu)
6g.24178401C>TCA363279874DCDC2c.1255G>A (p.Val419Ile)
c.514G>A (p.Val172Ile)
6g.24178402C>ACA363279875DCDC2c.1254G>T (p.Gln418His)
c.513G>T (p.Gln171His)
6g.24178402C>GCA363279876DCDC2c.1254G>C (p.Gln418His)
c.513G>C (p.Gln171His)
6g.24178402C>TCA448963240DCDC2c.1254G>A (p.Gln418=)
c.513G>A (p.Gln171=)
6g.24178403T>ACA363279877DCDC2c.1253A>T (p.Gln418Leu)
c.512A>T (p.Gln171Leu)
6g.24178403T>CCA3654473DCDC2c.1253A>G (p.Gln418Arg)
c.512A>G (p.Gln171Arg)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.24178403T>GCA363279878DCDC2c.1253A>C (p.Gln418Pro)
c.512A>C (p.Gln171Pro)
6g.24178403T=CA1616325718DCDC2c.1253A= (p.Gln418=)
c.512A= (p.Gln171=)
6g.24178404G>ACA363279879DCDC2c.1252C>T (p.Gln418Ter)
c.511C>T (p.Gln171Ter)
dbSNP gnomAD v2 gnomAD v4
6g.24178404G>CCA363279880DCDC2c.1252C>G (p.Gln418Glu)
c.511C>G (p.Gln171Glu)
6g.24178404G=CA1616325723DCDC2c.1252C= (p.Gln418=)
c.511C= (p.Gln171=)
6g.24178404G>TCA363279881DCDC2c.1252C>A (p.Gln418Lys)
c.511C>A (p.Gln171Lys)
6g.24178405C>ACA363279882DCDC2c.1251G>T (p.Gln417His)
c.510G>T (p.Gln170His)
6g.24178405C>GCA363279883DCDC2c.1251G>C (p.Gln417His)
c.510G>C (p.Gln170His)
6g.24178405C>TCA448963241DCDC2c.1251G>A (p.Gln417=)
c.510G>A (p.Gln170=)
6g.24178406T>ACA363279886DCDC2c.1250A>T (p.Gln417Leu)
c.509A>T (p.Gln170Leu)
6g.24178406T>CCA363279884DCDC2c.1250A>G (p.Gln417Arg)
c.509A>G (p.Gln170Arg)
dbSNP
6g.24178406T>GCA363279885DCDC2c.1250A>C (p.Gln417Pro)
c.509A>C (p.Gln170Pro)
6g.24178406T=CA1616325732DCDC2c.1250A= (p.Gln417=)
c.509A= (p.Gln170=)
6g.24178407G>ACA136622208DCDC2c.1249C>T (p.Gln417Ter)
c.508C>T (p.Gln170Ter)
dbSNP gnomAD v4
6g.24178407G>CCA363279888DCDC2c.1249C>G (p.Gln417Glu)
c.508C>G (p.Gln170Glu)
6g.24178407G=CA1616325735DCDC2c.1249C= (p.Gln417=)
c.508C= (p.Gln170=)
6g.24178407G>TCA363279887DCDC2c.1249C>A (p.Gln417Lys)
c.508C>A (p.Gln170Lys)
6g.24178408C>ACA448963242DCDC2c.1248G>T (p.Leu416=)
c.507G>T (p.Leu169=)
6g.24178408C>GCA448963243DCDC2c.1248G>C (p.Leu416=)
c.507G>C (p.Leu169=)
6g.24178408C>TCA448963244DCDC2c.1248G>A (p.Leu416=)
c.507G>A (p.Leu169=)
COSMIC COSMIC

Number of alleles fetched