Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.202532598_202532599dupCA658796144BMPR2c.1142_1143dup (p.Tyr382AspfsTer8)
c.1073_1074dup (p.Tyr359AspfsTer8)
ClinVar dbSNP
2g.202532599A>CCA350341705BMPR2c.1143A>C (p.Arg381Ser)
c.1074A>C (p.Arg358Ser)
2g.202532599A>GCA430849400BMPR2c.1143A>G (p.Arg381=)
c.1074A>G (p.Arg358=)
2g.202532599A>TCA350341706BMPR2c.1143A>T (p.Arg381Ser)
c.1074A>T (p.Arg358Ser)
2g.202532600T>ACA350341707BMPR2c.1144T>A (p.Tyr382Asn)
c.1075T>A (p.Tyr359Asn)
2g.202532600T>CCA350341709BMPR2c.1144T>C (p.Tyr382His)
c.1075T>C (p.Tyr359His)
2g.202532600T>GCA350341708BMPR2c.1144T>G (p.Tyr382Asp)
c.1075T>G (p.Tyr359Asp)
2g.202532601A>CCA350341710BMPR2c.1145A>C (p.Tyr382Ser)
c.1076A>C (p.Tyr359Ser)
2g.202532601A>GCA350341711BMPR2c.1145A>G (p.Tyr382Cys)
c.1076A>G (p.Tyr359Cys)
gnomAD v4
2g.202532601A>TCA350341712BMPR2c.1145A>T (p.Tyr382Phe)
c.1076A>T (p.Tyr359Phe)
2g.202532601dupCA2662706312BMPR2c.1145dup (p.Tyr382Ter)
c.1076dup (p.Tyr359Ter)
gnomAD v4
2g.202532602T>ACA350341713BMPR2c.1146T>A (p.Tyr382Ter)
c.1077T>A (p.Tyr359Ter)
2g.202532602T>CCA430849408BMPR2c.1146T>C (p.Tyr382=)
c.1077T>C (p.Tyr359=)
dbSNP gnomAD v4
2g.202532602T>GCA350341714BMPR2c.1146T>G (p.Tyr382Ter)
c.1077T>G (p.Tyr359Ter)
ClinVar dbSNP
2g.202532602T=CA1321545651BMPR2c.1146T= (p.Tyr382=)
c.1077T= (p.Tyr359=)
2g.202532603A>CCA350341715BMPR2c.1147A>C (p.Met383Leu)
c.1078A>C (p.Met360Leu)
2g.202532603A>GCA350341716BMPR2c.1147A>G (p.Met383Val)
c.1078A>G (p.Met360Val)
2g.202532603A>TCA350341717BMPR2c.1147A>T (p.Met383Leu)
c.1078A>T (p.Met360Leu)
2g.202532603_202532604delinsATCA1321545652BMPR2c.1147_1148delinsAT (p.Met383=)
c.1078_1079delinsAT (p.Met360=)
2g.202532604delCA658655725BMPR2c.1148del (p.Met383ArgfsTer6)
c.1079del (p.Met360ArgfsTer6)
ClinVar dbSNP
2g.202532604T>ACA350341718BMPR2c.1148T>A (p.Met383Lys)
c.1079T>A (p.Met360Lys)
2g.202532604T>CCA350341719BMPR2c.1148T>C (p.Met383Thr)
c.1079T>C (p.Met360Thr)
2g.202532604T>GCA350341720BMPR2c.1148T>G (p.Met383Arg)
c.1079T>G (p.Met360Arg)
2g.202532604dupCA2586971100BMPR2c.1148dup (p.Met383IlefsTer16)
c.1079dup (p.Met360IlefsTer16)
2g.202532605G>ACA350341721BMPR2c.1149G>A (p.Met383Ile)
c.1080G>A (p.Met360Ile)
2g.202532605G>CCA350341723BMPR2c.1149G>C (p.Met383Ile)
c.1080G>C (p.Met360Ile)
2g.202532605G>TCA350341722BMPR2c.1149G>T (p.Met383Ile)
c.1080G>T (p.Met360Ile)
2g.202532606G>ACA350341724BMPR2c.1150G>A (p.Ala384Thr)
c.1081G>A (p.Ala361Thr)
2g.202532606G>CCA350341726BMPR2c.1150G>C (p.Ala384Pro)
c.1081G>C (p.Ala361Pro)
2g.202532606G>TCA350341725BMPR2c.1150G>T (p.Ala384Ser)
c.1081G>T (p.Ala361Ser)
2g.202532607C>ACA350341727BMPR2c.1151C>A (p.Ala384Glu)
c.1082C>A (p.Ala361Glu)
2g.202532607C=CA1321545653BMPR2c.1151C= (p.Ala384=)
c.1082C= (p.Ala361=)
2g.202532607C>GCA350341729BMPR2c.1151C>G (p.Ala384Gly)
c.1082C>G (p.Ala361Gly)
2g.202532607C>TCA350341728BMPR2c.1151C>T (p.Ala384Val)
c.1082C>T (p.Ala361Val)
ClinVar dbSNP
2g.202532608A>CCA430849428BMPR2c.1152A>C (p.Ala384=)
c.1083A>C (p.Ala361=)
2g.202532608A>GCA430849429BMPR2c.1152A>G (p.Ala384=)
c.1083A>G (p.Ala361=)
2g.202532608A>TCA430849430BMPR2c.1152A>T (p.Ala384=)
c.1083A>T (p.Ala361=)
2g.202532609C>ACA350341730BMPR2c.1153C>A (p.Pro385Thr)
c.1084C>A (p.Pro362Thr)
2g.202532609C>GCA350341731BMPR2c.1153C>G (p.Pro385Ala)
c.1084C>G (p.Pro362Ala)
2g.202532609C>TCA350341732BMPR2c.1153C>T (p.Pro385Ser)
c.1084C>T (p.Pro362Ser)
2g.202532610C>ACA350341733BMPR2c.1154C>A (p.Pro385Gln)
c.1085C>A (p.Pro362Gln)
2g.202532610C>GCA350341734BMPR2c.1154C>G (p.Pro385Arg)
c.1085C>G (p.Pro362Arg)
ClinVar dbSNP
2g.202532610C>TCA350341735BMPR2c.1154C>T (p.Pro385Leu)
c.1085C>T (p.Pro362Leu)
2g.202532611A>CCA430849440BMPR2c.1155A>C (p.Pro385=)
c.1086A>C (p.Pro362=)
2g.202532611A>GCA430849442BMPR2c.1155A>G (p.Pro385=)
c.1086A>G (p.Pro362=)
2g.202532611A>TCA430849441BMPR2c.1155A>T (p.Pro385=)
c.1086A>T (p.Pro362=)
2g.202532612G>ACA350341736BMPR2c.1156G>A (p.Glu386Lys)
c.1087G>A (p.Glu363Lys)
ClinVar dbSNP
2g.202532612G>CCA350341737BMPR2c.1156G>C (p.Glu386Gln)
c.1087G>C (p.Glu363Gln)
ClinVar dbSNP
2g.202532612G=CA1321545654BMPR2c.1156G= (p.Glu386=)
c.1087G= (p.Glu363=)
2g.202532612G>TCA350341738BMPR2c.1156G>T (p.Glu386Ter)
c.1087G>T (p.Glu363Ter)
2g.202532613A=CA1321545655BMPR2c.1157A= (p.Glu386=)
c.1088A= (p.Glu363=)
2g.202532613A>CCA350341739BMPR2c.1157A>C (p.Glu386Ala)
c.1088A>C (p.Glu363Ala)
ClinVar dbSNP
2g.202532613A>GCA350341740BMPR2c.1157A>G (p.Glu386Gly)
c.1088A>G (p.Glu363Gly)
ClinVar dbSNP COSMIC
2g.202532613A>TCA350341741BMPR2c.1157A>T (p.Glu386Val)
c.1088A>T (p.Glu363Val)
ClinVar dbSNP
2g.202532614A>CCA350341742BMPR2c.1158A>C (p.Glu386Asp)
c.1089A>C (p.Glu363Asp)
2g.202532614A>GCA430849455BMPR2c.1158A>G (p.Glu386=)
c.1089A>G (p.Glu363=)
2g.202532614A>TCA350341743BMPR2c.1158A>T (p.Glu386Asp)
c.1089A>T (p.Glu363Asp)
2g.202532615G>ACA350341744BMPR2c.1159G>A (p.Val387Met)
c.1090G>A (p.Val364Met)
2g.202532615G>CCA350341745BMPR2c.1159G>C (p.Val387Leu)
c.1090G>C (p.Val364Leu)
2g.202532615G>TCA350341746BMPR2c.1159G>T (p.Val387Leu)
c.1090G>T (p.Val364Leu)
2g.202532616T>ACA350341747BMPR2c.1160T>A (p.Val387Glu)
c.1091T>A (p.Val364Glu)
2g.202532616T>CCA350341748BMPR2c.1160T>C (p.Val387Ala)
c.1091T>C (p.Val364Ala)
2g.202532616T>GCA350341749BMPR2c.1160T>G (p.Val387Gly)
c.1091T>G (p.Val364Gly)
2g.202532617delCA2586971101BMPR2c.1161del (p.Leu388Ter)
c.1092del (p.Leu365Ter)
2g.202532617G>ACA64029547BMPR2c.1161G>A (p.Val387=)
c.1092G>A (p.Val364=)
dbSNP
2g.202532617G>CCA430849466BMPR2c.1161G>C (p.Val387=)
c.1092G>C (p.Val364=)
2g.202532617G=CA1321545656BMPR2c.1161G= (p.Val387=)
c.1092G= (p.Val364=)
2g.202532617G>TCA430849468BMPR2c.1161G>T (p.Val387=)
c.1092G>T (p.Val364=)
2g.202532618C>ACA350341750BMPR2c.1162C>A (p.Leu388Ile)
c.1093C>A (p.Leu365Ile)
2g.202532618C>GCA350341751BMPR2c.1162C>G (p.Leu388Val)
c.1093C>G (p.Leu365Val)
2g.202532618C>TCA430849472BMPR2c.1162C>T (p.Leu388=)
c.1093C>T (p.Leu365=)
2g.202532619T>ACA350341752BMPR2c.1163T>A (p.Leu388Gln)
c.1094T>A (p.Leu365Gln)
2g.202532619T>CCA350341753BMPR2c.1163T>C (p.Leu388Pro)
c.1094T>C (p.Leu365Pro)
2g.202532619T>GCA350341754BMPR2c.1163T>G (p.Leu388Arg)
c.1094T>G (p.Leu365Arg)
2g.202532620A=CA1321545657BMPR2c.1164A= (p.Leu388=)
c.1095A= (p.Leu365=)
2g.202532620A>CCA430849480BMPR2c.1164A>C (p.Leu388=)
c.1095A>C (p.Leu365=)
2g.202532620A>GCA430849482BMPR2c.1164A>G (p.Leu388=)
c.1095A>G (p.Leu365=)
2g.202532620A>TCA2061315BMPR2c.1164A>T (p.Leu388=)
c.1095A>T (p.Leu365=)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.202532621G>ACA350341755BMPR2c.1165G>A (p.Glu389Lys)
c.1096G>A (p.Glu366Lys)
2g.202532621G>CCA350341757BMPR2c.1165G>C (p.Glu389Gln)
c.1096G>C (p.Glu366Gln)
2g.202532621G>TCA350341756BMPR2c.1165G>T (p.Glu389Ter)
c.1096G>T (p.Glu366Ter)
2g.202532622A>CCA350341758BMPR2c.1166A>C (p.Glu389Ala)
c.1097A>C (p.Glu366Ala)
2g.202532622A>GCA350341759BMPR2c.1166A>G (p.Glu389Gly)
c.1097A>G (p.Glu366Gly)
COSMIC
2g.202532622A>TCA350341760BMPR2c.1166A>T (p.Glu389Val)
c.1097A>T (p.Glu366Val)
2g.202532623A>CCA350341761BMPR2c.1167A>C (p.Glu389Asp)
c.1098A>C (p.Glu366Asp)
2g.202532623A>GCA430849500BMPR2c.1167A>G (p.Glu389=)
c.1098A>G (p.Glu366=)
2g.202532623A>TCA350341762BMPR2c.1167A>T (p.Glu389Asp)
c.1098A>T (p.Glu366Asp)
2g.202532624G>ACA350341763BMPR2c.1168G>A (p.Gly390Arg)
c.1099G>A (p.Gly367Arg)
dbSNP COSMIC
2g.202532624G>CCA350341764BMPR2c.1168G>C (p.Gly390Arg)
c.1099G>C (p.Gly367Arg)
2g.202532624G=CA1321545658BMPR2c.1168G= (p.Gly390=)
c.1099G= (p.Gly367=)
2g.202532624G>TCA350341765BMPR2c.1168G>T (p.Gly390Ter)
c.1099G>T (p.Gly367Ter)
COSMIC
2g.202532625delCA2580065453BMPR2c.1169del (p.Gly390GlufsTer3)
c.1100del (p.Gly367GlufsTer3)
ClinVar
2g.202532625G>ACA350341766BMPR2c.1169G>A (p.Gly390Glu)
c.1100G>A (p.Gly367Glu)
2g.202532625G>CCA350341767BMPR2c.1169G>C (p.Gly390Ala)
c.1100G>C (p.Gly367Ala)
2g.202532625G>TCA350341768BMPR2c.1169G>T (p.Gly390Val)
c.1100G>T (p.Gly367Val)
2g.202532626A>CCA430849511BMPR2c.1170A>C (p.Gly390=)
c.1101A>C (p.Gly367=)
2g.202532626A>GCA430849514BMPR2c.1170A>G (p.Gly390=)
c.1101A>G (p.Gly367=)
2g.202532626A>TCA430849515BMPR2c.1170A>T (p.Gly390=)
c.1101A>T (p.Gly367=)
2g.202532627G>ACA350341771BMPR2c.1171G>A (p.Ala391Thr)
c.1102G>A (p.Ala368Thr)
ClinVar dbSNP
2g.202532627G>CCA350341770BMPR2c.1171G>C (p.Ala391Pro)
c.1102G>C (p.Ala368Pro)
2g.202532627G=CA1321545659BMPR2c.1171G= (p.Ala391=)
c.1102G= (p.Ala368=)
2g.202532627G>TCA350341769BMPR2c.1171G>T (p.Ala391Ser)
c.1102G>T (p.Ala368Ser)
2g.202532628C>ACA350341772BMPR2c.1172C>A (p.Ala391Asp)
c.1103C>A (p.Ala368Asp)
2g.202532628C>GCA350341773BMPR2c.1172C>G (p.Ala391Gly)
c.1103C>G (p.Ala368Gly)
2g.202532628C>TCA350341774BMPR2c.1172C>T (p.Ala391Val)
c.1103C>T (p.Ala368Val)
2g.202532629T>ACA430849527BMPR2c.1173T>A (p.Ala391=)
c.1104T>A (p.Ala368=)
2g.202532629T>CCA430849529BMPR2c.1173T>C (p.Ala391=)
c.1104T>C (p.Ala368=)
2g.202532629T>GCA430849530BMPR2c.1173T>G (p.Ala391=)
c.1104T>G (p.Ala368=)
2g.202532630G>ACA350341775BMPR2c.1174G>A (p.Val392Met)
c.1105G>A (p.Val369Met)
2g.202532630G>CCA350341776BMPR2c.1174G>C (p.Val392Leu)
c.1105G>C (p.Val369Leu)
2g.202532630G>TCA350341777BMPR2c.1174G>T (p.Val392Leu)
c.1105G>T (p.Val369Leu)
2g.202532631delCA2573134355BMPR2c.1175del (p.Val392GlyfsTer3)
c.1106del (p.Val369GlyfsTer3)
ClinVar dbSNP
2g.202532631T>ACA350341778BMPR2c.1175T>A (p.Val392Glu)
c.1106T>A (p.Val369Glu)
ClinVar dbSNP
2g.202532631T>CCA350341779BMPR2c.1175T>C (p.Val392Ala)
c.1106T>C (p.Val369Ala)
ClinVar dbSNP
2g.202532631T>GCA350341780BMPR2c.1175T>G (p.Val392Gly)
c.1106T>G (p.Val369Gly)
2g.202532631T=CA1321545660BMPR2c.1175T= (p.Val392=)
c.1106T= (p.Val369=)
2g.202532632G>ACA430849538BMPR2c.1176G>A (p.Val392=)
c.1107G>A (p.Val369=)
gnomAD v4
2g.202532632G>CCA430849539BMPR2c.1176G>C (p.Val392=)
c.1107G>C (p.Val369=)
2g.202532632G>TCA430849542BMPR2c.1176G>T (p.Val392=)
c.1107G>T (p.Val369=)
2g.202532633A>CCA350341781BMPR2c.1177A>C (p.Asn393His)
c.1108A>C (p.Asn370His)
2g.202532633A>GCA350341782BMPR2c.1177A>G (p.Asn393Asp)
c.1108A>G (p.Asn370Asp)
2g.202532633A>TCA350341783BMPR2c.1177A>T (p.Asn393Tyr)
c.1108A>T (p.Asn370Tyr)
2g.202532634A=CA1321545661BMPR2c.1178A= (p.Asn393=)
c.1109A= (p.Asn370=)
2g.202532634A>CCA350341786BMPR2c.1178A>C (p.Asn393Thr)
c.1109A>C (p.Asn370Thr)
2g.202532634A>GCA350341785BMPR2c.1178A>G (p.Asn393Ser)
c.1109A>G (p.Asn370Ser)
ClinVar dbSNP
2g.202532634A>TCA350341784BMPR2c.1178A>T (p.Asn393Ile)
c.1109A>T (p.Asn370Ile)
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)
2g.202532650A>CCA350341825BMPR2c.1194A>C (p.Glu398Asp)
c.1125A>C (p.Glu375Asp)
2g.202532650A>GCA430849606BMPR2c.1194A>G (p.Glu398=)
c.1125A>G (p.Glu375=)
2g.202532650A>TCA350341824BMPR2c.1194A>T (p.Glu398Asp)
c.1125A>T (p.Glu375Asp)
2g.202532651T>ACA350341826BMPR2c.1195T>A (p.Ser399Thr)
c.1126T>A (p.Ser376Thr)
2g.202532651T>CCA350341827BMPR2c.1195T>C (p.Ser399Pro)
c.1126T>C (p.Ser376Pro)
2g.202532651T>GCA350341828BMPR2c.1195T>G (p.Ser399Ala)
c.1126T>G (p.Ser376Ala)
2g.202532652C>ACA350341829BMPR2c.1196C>A (p.Ser399Ter)
c.1127C>A (p.Ser376Ter)
2g.202532652C=CA1321545667BMPR2c.1196C= (p.Ser399=)
c.1127C= (p.Ser376=)
2g.202532652C>GCA350341830BMPR2c.1196C>G (p.Ser399Ter)
c.1127C>G (p.Ser376Ter)
ClinVar dbSNP
2g.202532652C>TCA350341831BMPR2c.1196C>T (p.Ser399Leu)
c.1127C>T (p.Ser376Leu)
2g.202532652_202532653delinsCACA1321545666BMPR2c.1196_1197delinsCA (p.Ser399=)
c.1127_1128delinsCA (p.Ser376=)
2g.202532653delCA1041321268BMPR2c.1197del (p.Ala400LeufsTer2)
c.1128del (p.Ala377LeufsTer2)
dbSNP gnomAD v3 gnomAD v4
2g.202532653A>CCA430849615BMPR2c.1197A>C (p.Ser399=)
c.1128A>C (p.Ser376=)
2g.202532653A>GCA430849617BMPR2c.1197A>G (p.Ser399=)
c.1128A>G (p.Ser376=)
gnomAD v4
2g.202532653A>TCA430849618BMPR2c.1197A>T (p.Ser399=)
c.1128A>T (p.Ser376=)
2g.202532654G>ACA350341832BMPR2c.1198G>A (p.Ala400Thr)
c.1129G>A (p.Ala377Thr)
2g.202532654G>CCA350341834BMPR2c.1198G>C (p.Ala400Pro)
c.1129G>C (p.Ala377Pro)
2g.202532654G>TCA350341833BMPR2c.1198G>T (p.Ala400Ser)
c.1129G>T (p.Ala377Ser)
2g.202532655C>ACA350341835BMPR2c.1199C>A (p.Ala400Asp)
c.1130C>A (p.Ala377Asp)
2g.202532655C>GCA350341836BMPR2c.1199C>G (p.Ala400Gly)
c.1130C>G (p.Ala377Gly)
2g.202532655C>TCA350341837BMPR2c.1199C>T (p.Ala400Val)
c.1130C>T (p.Ala377Val)
2g.202532656T>ACA430849635BMPR2c.1200T>A (p.Ala400=)
c.1131T>A (p.Ala377=)
2g.202532656T>CCA430849636BMPR2c.1200T>C (p.Ala400=)
c.1131T>C (p.Ala377=)
2g.202532656T>GCA430849637BMPR2c.1200T>G (p.Ala400=)
c.1131T>G (p.Ala377=)
2g.202532657T>ACA350341838BMPR2c.1201T>A (p.Leu401Met)
c.1132T>A (p.Leu378Met)
2g.202532657T>CCA430849640BMPR2c.1201T>C (p.Leu401=)
c.1132T>C (p.Leu378=)
2g.202532657T>GCA350341839BMPR2c.1201T>G (p.Leu401Val)
c.1132T>G (p.Leu378Val)
2g.202532658T>ACA350341840BMPR2c.1202T>A (p.Leu401Ter)
c.1133T>A (p.Leu378Ter)
2g.202532658T>CCA350341841BMPR2c.1202T>C (p.Leu401Ser)
c.1133T>C (p.Leu378Ser)
ClinVar dbSNP
2g.202532658T>GCA350341842BMPR2c.1202T>G (p.Leu401Trp)
c.1133T>G (p.Leu378Trp)
2g.202532658T=CA1321545668BMPR2c.1202T= (p.Leu401=)
c.1133T= (p.Leu378=)
2g.202532659G>ACA430849654BMPR2c.1203G>A (p.Leu401=)
c.1134G>A (p.Leu378=)
2g.202532659G>CCA350341843BMPR2c.1203G>C (p.Leu401Phe)
c.1134G>C (p.Leu378Phe)
2g.202532659G>TCA350341844BMPR2c.1203G>T (p.Leu401Phe)
c.1134G>T (p.Leu378Phe)
2g.202532660A>CCA350341845BMPR2c.1204A>C (p.Lys402Gln)
c.1135A>C (p.Lys379Gln)
2g.202532660A>GCA350341847BMPR2c.1204A>G (p.Lys402Glu)
c.1135A>G (p.Lys379Glu)
2g.202532660A>TCA350341846BMPR2c.1204A>T (p.Lys402Ter)
c.1135A>T (p.Lys379Ter)
2g.202532662delCA2499215575BMPR2c.1206del (p.Lys402AsnfsTer3)
c.1137del (p.Lys379AsnfsTer3)
ClinVar dbSNP
2g.202532661A>CCA350341848BMPR2c.1205A>C (p.Lys402Thr)
c.1136A>C (p.Lys379Thr)
2g.202532661A>GCA350341850BMPR2c.1205A>G (p.Lys402Arg)
c.1136A>G (p.Lys379Arg)
gnomAD v4
2g.202532661A>TCA350341849BMPR2c.1205A>T (p.Lys402Ile)
c.1136A>T (p.Lys379Ile)
2g.202532662A>CCA350341851BMPR2c.1206A>C (p.Lys402Asn)
c.1137A>C (p.Lys379Asn)
2g.202532662A>GCA430849671BMPR2c.1206A>G (p.Lys402=)
c.1137A>G (p.Lys379=)
2g.202532662A>TCA350341852BMPR2c.1206A>T (p.Lys402Asn)
c.1137A>T (p.Lys379Asn)
2g.202532663C>ACA350341853BMPR2c.1207C>A (p.Gln403Lys)
c.1138C>A (p.Gln380Lys)
2g.202532663C=CA1321545669BMPR2c.1207C= (p.Gln403=)
c.1138C= (p.Gln380=)
2g.202532663C>GCA350341854BMPR2c.1207C>G (p.Gln403Glu)
c.1138C>G (p.Gln380Glu)
gnomAD v4
2g.202532663C>TCA64029555BMPR2c.1207C>T (p.Gln403Ter)
c.1138C>T (p.Gln380Ter)
ClinVar dbSNP COSMIC
2g.202532664A>CCA350341855BMPR2c.1208A>C (p.Gln403Pro)
c.1139A>C (p.Gln380Pro)
2g.202532664A>GCA350341857BMPR2c.1208A>G (p.Gln403Arg)
c.1139A>G (p.Gln380Arg)
2g.202532664A>TCA350341856BMPR2c.1208A>T (p.Gln403Leu)
c.1139A>T (p.Gln380Leu)
2g.202532665A=CA1321545670BMPR2c.1209A= (p.Gln403=)
c.1140A= (p.Gln380=)
2g.202532665A>CCA350341858BMPR2c.1209A>C (p.Gln403His)
c.1140A>C (p.Gln380His)
2g.202532665A>GCA2061317BMPR2c.1209A>G (p.Gln403=)
c.1140A>G (p.Gln380=)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.202532665A>TCA350341859BMPR2c.1209A>T (p.Gln403His)
c.1140A>T (p.Gln380His)
2g.202532666G>ACA350341860BMPR2c.1210G>A (p.Val404Ile)
c.1141G>A (p.Val381Ile)
2g.202532666G>CCA350341861BMPR2c.1210G>C (p.Val404Leu)
c.1141G>C (p.Val381Leu)
2g.202532666G>TCA350341862BMPR2c.1210G>T (p.Val404Leu)
c.1141G>T (p.Val381Leu)
2g.202532667T>ACA350341863BMPR2c.1211T>A (p.Val404Glu)
c.1142T>A (p.Val381Glu)
2g.202532667T>CCA350341864BMPR2c.1211T>C (p.Val404Ala)
c.1142T>C (p.Val381Ala)
gnomAD v4
2g.202532667T>GCA350341865BMPR2c.1211T>G (p.Val404Gly)
c.1142T>G (p.Val381Gly)
2g.202532668A>CCA430849695BMPR2c.1212A>C (p.Val404=)
c.1143A>C (p.Val381=)
2g.202532668A>GCA430849700BMPR2c.1212A>G (p.Val404=)
c.1143A>G (p.Val381=)
2g.202532668A>TCA430849697BMPR2c.1212A>T (p.Val404=)
c.1143A>T (p.Val381=)
2g.202532669G>ACA350341866BMPR2c.1213G>A (p.Asp405Asn)
c.1144G>A (p.Asp382Asn)
2g.202532669G>CCA350341867BMPR2c.1213G>C (p.Asp405His)
c.1144G>C (p.Asp382His)
2g.202532669G>TCA350341868BMPR2c.1213G>T (p.Asp405Tyr)
c.1144G>T (p.Asp382Tyr)
2g.202532669_202532670delinsGACA1321545671BMPR2c.1213_1214delinsGA (p.Asp405=)
c.1144_1145delinsGA (p.Asp382=)
2g.202532670delCA645293824BMPR2c.1214del (p.Asp405AlafsTer7)
c.1145del (p.Asp382AlafsTer7)
ClinVar dbSNP
2g.202532670A>CCA350341869BMPR2c.1214A>C (p.Asp405Ala)
c.1145A>C (p.Asp382Ala)
2g.202532670A>GCA350341871BMPR2c.1214A>G (p.Asp405Gly)
c.1145A>G (p.Asp382Gly)
2g.202532670A>TCA350341870BMPR2c.1214A>T (p.Asp405Val)
c.1145A>T (p.Asp382Val)
2g.202532671C>ACA350341872BMPR2c.1215C>A (p.Asp405Glu)
c.1146C>A (p.Asp382Glu)
2g.202532671C=CA1321545672BMPR2c.1215C= (p.Asp405=)
c.1146C= (p.Asp382=)
2g.202532671C>GCA350341873BMPR2c.1215C>G (p.Asp405Glu)
c.1146C>G (p.Asp382Glu)
2g.202532671C>TCA2061318BMPR2c.1215C>T (p.Asp405=)
c.1146C>T (p.Asp382=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.202532672A=CA1321545673BMPR2c.1216A= (p.Met406=)
c.1147A= (p.Met383=)
2g.202532672A>CCA350341874BMPR2c.1216A>C (p.Met406Leu)
c.1147A>C (p.Met383Leu)
2g.202532672A>GCA350341875BMPR2c.1216A>G (p.Met406Val)
c.1147A>G (p.Met383Val)
dbSNP
2g.202532672A>TCA350341876BMPR2c.1216A>T (p.Met406Leu)
c.1147A>T (p.Met383Leu)
2g.202532673T>ACA350341877BMPR2c.1217T>A (p.Met406Lys)
c.1148T>A (p.Met383Lys)
gnomAD v4
2g.202532673T>CCA350341878BMPR2c.1217T>C (p.Met406Thr)
c.1148T>C (p.Met383Thr)
dbSNP gnomAD v2 gnomAD v4
2g.202532673T>GCA350341879BMPR2c.1217T>G (p.Met406Arg)
c.1148T>G (p.Met383Arg)
ClinVar dbSNP
2g.202532673T=CA1321545674BMPR2c.1217T= (p.Met406=)
c.1148T= (p.Met383=)
2g.202532674G>ACA350341882BMPR2c.1218G>A (p.Met406Ile)
c.1149G>A (p.Met383Ile)
gnomAD v4
2g.202532674G>CCA350341881BMPR2c.1218G>C (p.Met406Ile)
c.1149G>C (p.Met383Ile)
dbSNP
2g.202532674G=CA1321545675BMPR2c.1218G= (p.Met406=)
c.1149G= (p.Met383=)
2g.202532674G>TCA350341880BMPR2c.1218G>T (p.Met406Ile)
c.1149G>T (p.Met383Ile)
2g.202532675T>ACA350341883BMPR2c.1219T>A (p.Tyr407Asn)
c.1150T>A (p.Tyr384Asn)
2g.202532675T>CCA350341884BMPR2c.1219T>C (p.Tyr407His)
c.1150T>C (p.Tyr384His)
gnomAD v4
2g.202532675T>GCA350341885BMPR2c.1219T>G (p.Tyr407Asp)
c.1150T>G (p.Tyr384Asp)
2g.202532676A=CA1321545676BMPR2c.1220A= (p.Tyr407=)
c.1151A= (p.Tyr384=)
2g.202532676A>CCA350341886BMPR2c.1220A>C (p.Tyr407Ser)
c.1151A>C (p.Tyr384Ser)
ClinVar dbSNP
2g.202532676A>GCA350341887BMPR2c.1220A>G (p.Tyr407Cys)
c.1151A>G (p.Tyr384Cys)
ClinVar
2g.202532676A>TCA350341888BMPR2c.1220A>T (p.Tyr407Phe)
c.1151A>T (p.Tyr384Phe)
2g.202532677T>ACA350341889BMPR2c.1221T>A (p.Tyr407Ter)
c.1152T>A (p.Tyr384Ter)
2g.202532677T>CCA430849745BMPR2c.1221T>C (p.Tyr407=)
c.1152T>C (p.Tyr384=)
2g.202532677T>GCA350341890BMPR2c.1221T>G (p.Tyr407Ter)
c.1152T>G (p.Tyr384Ter)
ClinVar dbSNP
2g.202532677T=CA1321545677BMPR2c.1221T= (p.Tyr407=)
c.1152T= (p.Tyr384=)
2g.202532678G>ACA350341891BMPR2c.1222G>A (p.Ala408Thr)
c.1153G>A (p.Ala385Thr)
2g.202532678G>CCA350341892BMPR2c.1222G>C (p.Ala408Pro)
c.1153G>C (p.Ala385Pro)
2g.202532678G>TCA350341893BMPR2c.1222G>T (p.Ala408Ser)
c.1153G>T (p.Ala385Ser)
2g.202532679C>ACA350341896BMPR2c.1223C>A (p.Ala408Asp)
c.1154C>A (p.Ala385Asp)
2g.202532679C>GCA350341895BMPR2c.1223C>G (p.Ala408Gly)
c.1154C>G (p.Ala385Gly)
2g.202532679C>TCA350341894BMPR2c.1223C>T (p.Ala408Val)
c.1154C>T (p.Ala385Val)
2g.202532680T>ACA430849763BMPR2c.1224T>A (p.Ala408=)
c.1155T>A (p.Ala385=)
2g.202532680T>CCA2061319BMPR2c.1224T>C (p.Ala408=)
c.1155T>C (p.Ala385=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.202532680T>GCA430849768BMPR2c.1224T>G (p.Ala408=)
c.1155T>G (p.Ala385=)
2g.202532680T=CA1321545678BMPR2c.1224T= (p.Ala408=)
c.1155T= (p.Ala385=)
2g.202532681C>ACA350341897BMPR2c.1225C>A (p.Leu409Ile)
c.1156C>A (p.Leu386Ile)
2g.202532681C>GCA350341898BMPR2c.1225C>G (p.Leu409Val)
c.1156C>G (p.Leu386Val)
2g.202532681C>TCA350341899BMPR2c.1225C>T (p.Leu409Phe)
c.1156C>T (p.Leu386Phe)
COSMIC
2g.202532682T>ACA350341900BMPR2c.1226T>A (p.Leu409His)
c.1157T>A (p.Leu386His)
2g.202532682T>CCA350341901BMPR2c.1226T>C (p.Leu409Pro)
c.1157T>C (p.Leu386Pro)
2g.202532682T>GCA350341902BMPR2c.1226T>G (p.Leu409Arg)
c.1157T>G (p.Leu386Arg)
2g.202532683T>ACA430849787BMPR2c.1227T>A (p.Leu409=)
c.1158T>A (p.Leu386=)
2g.202532683T>CCA430849785BMPR2c.1227T>C (p.Leu409=)
c.1158T>C (p.Leu386=)
2g.202532683T>GCA430849783BMPR2c.1227T>G (p.Leu409=)
c.1158T>G (p.Leu386=)
2g.202532684G>ACA350341903BMPR2c.1228G>A (p.Gly410Arg)
c.1159G>A (p.Gly387Arg)
ClinVar dbSNP
2g.202532684G>CCA350341904BMPR2c.1228G>C (p.Gly410Arg)
c.1159G>C (p.Gly387Arg)
ClinVar dbSNP
2g.202532684G=CA1321545679BMPR2c.1228G= (p.Gly410=)
c.1159G= (p.Gly387=)
2g.202532684G>TCA350341905BMPR2c.1228G>T (p.Gly410Ter)
c.1159G>T (p.Gly387Ter)
2g.202532687_202532700delCA2586971102BMPR2c.1231_1244del (p.Leu411AspfsTer?)
c.1162_1175del (p.Leu388AspfsTer?)
2g.202532685G>ACA350341906BMPR2c.1229G>A (p.Gly410Glu)
c.1160G>A (p.Gly387Glu)
2g.202532685G>CCA350341907BMPR2c.1229G>C (p.Gly410Ala)
c.1160G>C (p.Gly387Ala)
2g.202532685G=CA1321545680BMPR2c.1229G= (p.Gly410=)
c.1160G= (p.Gly387=)
2g.202532685G>TCA350341908BMPR2c.1229G>T (p.Gly410Val)
c.1160G>T (p.Gly387Val)
dbSNP gnomAD v2 gnomAD v4 COSMIC
2g.202532686A>CCA430849803BMPR2c.1230A>C (p.Gly410=)
c.1161A>C (p.Gly387=)
2g.202532686A>GCA430849810BMPR2c.1230A>G (p.Gly410=)
c.1161A>G (p.Gly387=)
2g.202532686A>TCA430849806BMPR2c.1230A>T (p.Gly410=)
c.1161A>T (p.Gly387=)
2g.202532687C>ACA350341910BMPR2c.1231C>A (p.Leu411Ile)
c.1162C>A (p.Leu388Ile)
2g.202532687C=CA1321545681BMPR2c.1231C= (p.Leu411=)
c.1162C= (p.Leu388=)
2g.202532687C>GCA350341909BMPR2c.1231C>G (p.Leu411Val)
c.1162C>G (p.Leu388Val)
2g.202532687C>TCA430849814BMPR2c.1231C>T (p.Leu411=)
c.1162C>T (p.Leu388=)
dbSNP
2g.202532688T>ACA350341911BMPR2c.1232T>A (p.Leu411Gln)
c.1163T>A (p.Leu388Gln)
2g.202532688T>CCA350341913BMPR2c.1232T>C (p.Leu411Pro)
c.1163T>C (p.Leu388Pro)
2g.202532688T>GCA350341912BMPR2c.1232T>G (p.Leu411Arg)
c.1163T>G (p.Leu388Arg)
2g.202532688T=CA1321545682BMPR2c.1232T= (p.Leu411=)
c.1163T= (p.Leu388=)
2g.202532689A=CA1321545683BMPR2c.1233A= (p.Leu411=)
c.1164A= (p.Leu388=)
2g.202532689A>CCA430849820BMPR2c.1233A>C (p.Leu411=)
c.1164A>C (p.Leu388=)
dbSNP gnomAD v2 gnomAD v4
2g.202532689A>GCA430849826BMPR2c.1233A>G (p.Leu411=)
c.1164A>G (p.Leu388=)
2g.202532689A>TCA430849827BMPR2c.1233A>T (p.Leu411=)
c.1164A>T (p.Leu388=)
2g.202532689_202532692dupCA1139657615BMPR2c.1233_1236dup (p.Tyr413AsnfsTer?)
c.1164_1167dup (p.Tyr390AsnfsTer?)
ClinVar dbSNP
2g.202532690A=CA1321545684BMPR2c.1234A= (p.Ile412=)
c.1165A= (p.Ile389=)
2g.202532690A>CCA350341914BMPR2c.1234A>C (p.Ile412Leu)
c.1165A>C (p.Ile389Leu)
2g.202532690A>GCA64029565BMPR2c.1234A>G (p.Ile412Val)
c.1165A>G (p.Ile389Val)
dbSNP gnomAD v4
2g.202532690A>TCA350341915BMPR2c.1234A>T (p.Ile412Phe)
c.1165A>T (p.Ile389Phe)
2g.202532691T>ACA350341916BMPR2c.1235T>A (p.Ile412Asn)
c.1166T>A (p.Ile389Asn)
2g.202532691T>CCA350341917BMPR2c.1235T>C (p.Ile412Thr)
c.1166T>C (p.Ile389Thr)
2g.202532691T>GCA350341918BMPR2c.1235T>G (p.Ile412Ser)
c.1166T>G (p.Ile389Ser)
2g.202532692C>ACA430849834BMPR2c.1236C>A (p.Ile412=)
c.1167C>A (p.Ile389=)
2g.202532692C>GCA350341919BMPR2c.1236C>G (p.Ile412Met)
c.1167C>G (p.Ile389Met)
2g.202532692C>TCA430849837BMPR2c.1236C>T (p.Ile412=)
c.1167C>T (p.Ile389=)
2g.202532693T>ACA350341920BMPR2c.1237T>A (p.Tyr413Asn)
c.1168T>A (p.Tyr390Asn)
2g.202532693T>CCA350341921BMPR2c.1237T>C (p.Tyr413His)
c.1168T>C (p.Tyr390His)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.202532693T>GCA350341922BMPR2c.1237T>G (p.Tyr413Asp)
c.1168T>G (p.Tyr390Asp)
2g.202532693T=CA1321545685BMPR2c.1237T= (p.Tyr413=)
c.1168T= (p.Tyr390=)
2g.202532694A>CCA350341925BMPR2c.1238A>C (p.Tyr413Ser)
c.1169A>C (p.Tyr390Ser)
2g.202532694A>GCA350341924BMPR2c.1238A>G (p.Tyr413Cys)
c.1169A>G (p.Tyr390Cys)
gnomAD v4
2g.202532694A>TCA350341923BMPR2c.1238A>T (p.Tyr413Phe)
c.1169A>T (p.Tyr390Phe)
2g.202532695T>ACA350341926BMPR2c.1239T>A (p.Tyr413Ter)
c.1170T>A (p.Tyr390Ter)
2g.202532695T>CCA2061320BMPR2c.1239T>C (p.Tyr413=)
c.1170T>C (p.Tyr390=)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.202532695T>GCA350341927BMPR2c.1239T>G (p.Tyr413Ter)
c.1170T>G (p.Tyr390Ter)
2g.202532695T=CA1321545686BMPR2c.1239T= (p.Tyr413=)
c.1170T= (p.Tyr390=)
2g.202532696T>ACA350341928BMPR2c.1240T>A (p.Trp414Arg)
c.1171T>A (p.Trp391Arg)
2g.202532696T>CCA350341929BMPR2c.1240T>C (p.Trp414Arg)
c.1171T>C (p.Trp391Arg)
2g.202532696T>GCA350341930BMPR2c.1240T>G (p.Trp414Gly)
c.1171T>G (p.Trp391Gly)
2g.202532697G>ACA350341931BMPR2c.1241G>A (p.Trp414Ter)
c.1172G>A (p.Trp391Ter)
ClinVar dbSNP
2g.202532697G>CCA350341932BMPR2c.1241G>C (p.Trp414Ser)
c.1172G>C (p.Trp391Ser)
2g.202532697G=CA1321545687BMPR2c.1241G= (p.Trp414=)
c.1172G= (p.Trp391=)
2g.202532697G>TCA350341933BMPR2c.1241G>T (p.Trp414Leu)
c.1172G>T (p.Trp391Leu)
2g.202532698G>ACA350341934BMPR2c.1242G>A (p.Trp414Ter)
c.1173G>A (p.Trp391Ter)
ClinVar dbSNP
2g.202532698G>CCA350341935BMPR2c.1242G>C (p.Trp414Cys)
c.1173G>C (p.Trp391Cys)
2g.202532698G=CA1321545688BMPR2c.1242G= (p.Trp414=)
c.1173G= (p.Trp391=)
2g.202532698G>TCA350341936BMPR2c.1242G>T (p.Trp414Cys)
c.1173G>T (p.Trp391Cys)
2g.202532699G>ACA350341938BMPR2c.1243G>A (p.Glu415Lys)
c.1174G>A (p.Glu392Lys)
2g.202532699G>CCA350341939BMPR2c.1243G>C (p.Glu415Gln)
c.1174G>C (p.Glu392Gln)
COSMIC
2g.202532699G=CA1321545689BMPR2c.1243G= (p.Glu415=)
c.1174G= (p.Glu392=)
2g.202532699G>TCA350341937BMPR2c.1243G>T (p.Glu415Ter)
c.1174G>T (p.Glu392Ter)
ClinVar dbSNP
2g.202532701_202532702dupCA645293825BMPR2c.1245_1246dup (p.Ile416ArgfsTer4)
c.1176_1177dup (p.Ile393ArgfsTer4)
ClinVar dbSNP

Number of alleles fetched