Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.24178385T>ACA363279818DCDC2c.1271A>T (p.Gln424Leu)
c.530A>T (p.Gln177Leu)
6g.24178385T>CCA363279819DCDC2c.1271A>G (p.Gln424Arg)
c.530A>G (p.Gln177Arg)
6g.24178385T>GCA280061DCDC2c.1271A>C (p.Gln424Pro)
c.530A>C (p.Gln177Pro)
ClinVar dbSNP
6g.24178385T=CA1616325689DCDC2c.1271A= (p.Gln424=)
c.530A= (p.Gln177=)
6g.24178386G>ACA363279822DCDC2c.1270C>T (p.Gln424Ter)
c.529C>T (p.Gln177Ter)
6g.24178386G>CCA363279824DCDC2c.1270C>G (p.Gln424Glu)
c.529C>G (p.Gln177Glu)
6g.24178386G>TCA363279826DCDC2c.1270C>A (p.Gln424Lys)
c.529C>A (p.Gln177Lys)
6g.24178387A>CCA448963231DCDC2c.1269T>G (p.Leu423=)
c.528T>G (p.Leu176=)
6g.24178387A>GCA448963232DCDC2c.1269T>C (p.Leu423=)
c.528T>C (p.Leu176=)
6g.24178387A>TCA448963233DCDC2c.1269T>A (p.Leu423=)
c.528T>A (p.Leu176=)
6g.24178388A>CCA363279828DCDC2c.1268T>G (p.Leu423Arg)
c.527T>G (p.Leu176Arg)
6g.24178388A>GCA363279832DCDC2c.1268T>C (p.Leu423Pro)
c.527T>C (p.Leu176Pro)
6g.24178388A>TCA363279830DCDC2c.1268T>A (p.Leu423His)
c.527T>A (p.Leu176His)
6g.24178389G>ACA363279834DCDC2c.1267C>T (p.Leu423Phe)
c.526C>T (p.Leu176Phe)
6g.24178389G>CCA363279836DCDC2c.1267C>G (p.Leu423Val)
c.526C>G (p.Leu176Val)
6g.24178389G>TCA363279838DCDC2c.1267C>A (p.Leu423Ile)
c.526C>A (p.Leu176Ile)
6g.24178390C>ACA363279840DCDC2c.1266G>T (p.Glu422Asp)
c.525G>T (p.Glu175Asp)
6g.24178390C>GCA363279842DCDC2c.1266G>C (p.Glu422Asp)
c.525G>C (p.Glu175Asp)
6g.24178390C>TCA448963234DCDC2c.1266G>A (p.Glu422=)
c.525G>A (p.Glu175=)
6g.24178391T>ACA363279848DCDC2c.1265A>T (p.Glu422Val)
c.524A>T (p.Glu175Val)
6g.24178391T>CCA136622207DCDC2c.1265A>G (p.Glu422Gly)
c.524A>G (p.Glu175Gly)
dbSNP
6g.24178391T>GCA363279849DCDC2c.1265A>C (p.Glu422Ala)
c.524A>C (p.Glu175Ala)
6g.24178391T=CA1616325692DCDC2c.1265A= (p.Glu422=)
c.524A= (p.Glu175=)
6g.24178392C>ACA363279850DCDC2c.1264G>T (p.Glu422Ter)
c.523G>T (p.Glu175Ter)
COSMIC COSMIC
6g.24178392C>GCA363279851DCDC2c.1264G>C (p.Glu422Gln)
c.523G>C (p.Glu175Gln)
6g.24178392C>TCA363279852DCDC2c.1264G>A (p.Glu422Lys)
c.523G>A (p.Glu175Lys)
6g.24178393A=CA1616325697DCDC2c.1263T= (p.Asn421=)
c.522T= (p.Asn174=)
6g.24178393A>CCA363279853DCDC2c.1263T>G (p.Asn421Lys)
c.522T>G (p.Asn174Lys)
gnomAD
6g.24178393A>GCA448963235DCDC2c.1263T>C (p.Asn421=)
c.522T>C (p.Asn174=)
6g.24178393A>TCA3654471DCDC2c.1263T>A (p.Asn421Lys)
c.522T>A (p.Asn174Lys)
dbSNP ExAC gnomAD
6g.24178393_24178394delinsATCA1616325700DCDC2c.1262_1263delinsAT (p.Asn421=)
c.521_522delinsAT (p.Asn174=)
6g.24178394T>ACA363279855DCDC2c.1262A>T (p.Asn421Ile)
c.521A>T (p.Asn174Ile)
6g.24178394T>CCA363279856DCDC2c.1262A>G (p.Asn421Ser)
c.521A>G (p.Asn174Ser)
6g.24178394T>GCA363279857DCDC2c.1262A>C (p.Asn421Thr)
c.521A>C (p.Asn174Thr)
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=)
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=)

Number of alleles fetched