Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.202532635C>ACA350341787BMPR2c.1179C>A (p.Asn393Lys)
c.1110C>A (p.Asn370Lys)
2g.202532635C>GCA350341788BMPR2c.1179C>G (p.Asn393Lys)
c.1110C>G (p.Asn370Lys)
2g.202532635C>TCA430849558BMPR2c.1179C>T (p.Asn393=)
c.1110C>T (p.Asn370=)
2g.202532636T>ACA350341789BMPR2c.1180T>A (p.Leu394Met)
c.1111T>A (p.Leu371Met)
2g.202532636T>CCA430849560BMPR2c.1180T>C (p.Leu394=)
c.1111T>C (p.Leu371=)
2g.202532636T>GCA350341790BMPR2c.1180T>G (p.Leu394Val)
c.1111T>G (p.Leu371Val)
2g.202532637T>ACA350341791BMPR2c.1181T>A (p.Leu394Ter)
c.1112T>A (p.Leu371Ter)
2g.202532637T>CCA350341792BMPR2c.1181T>C (p.Leu394Ser)
c.1112T>C (p.Leu371Ser)
2g.202532637T>GCA350341793BMPR2c.1181T>G (p.Leu394Trp)
c.1112T>G (p.Leu371Trp)
2g.202532638G>ACA430849570BMPR2c.1182G>A (p.Leu394=)
c.1113G>A (p.Leu371=)
2g.202532638G>CCA350341794BMPR2c.1182G>C (p.Leu394Phe)
c.1113G>C (p.Leu371Phe)
2g.202532638G>TCA350341795BMPR2c.1182G>T (p.Leu394Phe)
c.1113G>T (p.Leu371Phe)
2g.202532639A>CCA430849574BMPR2c.1183A>C (p.Arg395=)
c.1114A>C (p.Arg372=)
2g.202532639A>GCA350341796BMPR2c.1183A>G (p.Arg395Gly)
c.1114A>G (p.Arg372Gly)
2g.202532639A>TCA350341797BMPR2c.1183A>T (p.Arg395Trp)
c.1114A>T (p.Arg372Trp)
2g.202532640G>ACA350341798BMPR2c.1184G>A (p.Arg395Lys)
c.1115G>A (p.Arg372Lys)
 dbSNP
2g.202532640G>CCA350341799BMPR2c.1184G>C (p.Arg395Thr)
c.1115G>C (p.Arg372Thr)
2g.202532640G=CA1321545662BMPR2c.1184G= (p.Arg395=)
c.1115G= (p.Arg372=)
2g.202532640G>TCA350341800BMPR2c.1184G>T (p.Arg395Met)
c.1115G>T (p.Arg372Met)
2g.202532641G>ACA430849582BMPR2c.1185G>A (p.Arg395=)
c.1116G>A (p.Arg372=)
2g.202532641G>CCA350341801BMPR2c.1185G>C (p.Arg395Ser)
c.1116G>C (p.Arg372Ser)
2g.202532641G>TCA350341802BMPR2c.1185G>T (p.Arg395Ser)
c.1116G>T (p.Arg372Ser)
2g.202532642G>ACA350341803BMPR2c.1186G>A (p.Asp396Asn)
c.1117G>A (p.Asp373Asn)
 COSMIC
2g.202532642G>CCA350341805BMPR2c.1186G>C (p.Asp396His)
c.1117G>C (p.Asp373His)
2g.202532642G>TCA350341804BMPR2c.1186G>T (p.Asp396Tyr)
c.1117G>T (p.Asp373Tyr)
2g.202532643A>CCA350341806BMPR2c.1187A>C (p.Asp396Ala)
c.1118A>C (p.Asp373Ala)
2g.202532643A>GCA350341807BMPR2c.1187A>G (p.Asp396Gly)
c.1118A>G (p.Asp373Gly)
2g.202532643A>TCA350341808BMPR2c.1187A>T (p.Asp396Val)
c.1118A>T (p.Asp373Val)
2g.202532644C>ACA350341809BMPR2c.1188C>A (p.Asp396Glu)
c.1119C>A (p.Asp373Glu)
2g.202532644C>GCA350341810BMPR2c.1188C>G (p.Asp396Glu)
c.1119C>G (p.Asp373Glu)
2g.202532644C>TCA430849592BMPR2c.1188C>T (p.Asp396=)
c.1119C>T (p.Asp373=)
2g.202532644_202532646delinsCTGCA1321545663BMPR2c.1188_1190delinsCTG (p.Asp396=)
c.1119_1121delinsCTG (p.Asp373=)
2g.202532645T>ACA350341811BMPR2c.1189T>A (p.Cys397Ser)
c.1120T>A (p.Cys374Ser)
2g.202532645T>CCA350341812BMPR2c.1189T>C (p.Cys397Arg)
c.1120T>C (p.Cys374Arg)
2g.202532645T>GCA350341813BMPR2c.1189T>G (p.Cys397Gly)
c.1120T>G (p.Cys374Gly)
2g.202532647_202532648delCA645293823BMPR2c.1191_1192del (p.Cys397Ter)
c.1122_1123del (p.Cys374Ter)
 ClinVar dbSNP
2g.202532646G>ACA2061316BMPR2c.1190G>A (p.Cys397Tyr)
c.1121G>A (p.Cys374Tyr)
 dbSNP ExAC gnomAD v4
2g.202532646G>CCA350341814BMPR2c.1190G>C (p.Cys397Ser)
c.1121G>C (p.Cys374Ser)
 gnomAD v4
2g.202532646G=CA1321545664BMPR2c.1190G= (p.Cys397=)
c.1121G= (p.Cys374=)
2g.202532646G>TCA350341815BMPR2c.1190G>T (p.Cys397Phe)
c.1121G>T (p.Cys374Phe)
2g.202532647T>ACA350341816BMPR2c.1191T>A (p.Cys397Ter)
c.1122T>A (p.Cys374Ter)
2g.202532647T>CCA430849600BMPR2c.1191T>C (p.Cys397=)
c.1122T>C (p.Cys374=)
2g.202532647T>GCA350341817BMPR2c.1191T>G (p.Cys397Trp)
c.1122T>G (p.Cys374Trp)
2g.202532648G>ACA350341818BMPR2c.1192G>A (p.Glu398Lys)
c.1123G>A (p.Glu375Lys)
2g.202532648G>CCA350341819BMPR2c.1192G>C (p.Glu398Gln)
c.1123G>C (p.Glu375Gln)
2g.202532648G>TCA350341820BMPR2c.1192G>T (p.Glu398Ter)
c.1123G>T (p.Glu375Ter)
2g.202532649A=CA1321545665BMPR2c.1193A= (p.Glu398=)
c.1124A= (p.Glu375=)
2g.202532649A>CCA350341821BMPR2c.1193A>C (p.Glu398Ala)
c.1124A>C (p.Glu375Ala)
 dbSNP gnomAD v3 gnomAD v4
2g.202532649A>GCA350341822BMPR2c.1193A>G (p.Glu398Gly)
c.1124A>G (p.Glu375Gly)
2g.202532649A>TCA350341823BMPR2c.1193A>T (p.Glu398Val)
c.1124A>T (p.Glu375Val)

Number of alleles fetched