Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.202530866G>ACA278077BMPR2c.1040G>A (p.Cys347Tyr)
c.971G>A (p.Cys324Tyr)
 ClinVar dbSNP
2g.202530866G>CCA350341424BMPR2c.1040G>C (p.Cys347Ser)
c.971G>C (p.Cys324Ser)
2g.202530866G=CA1321544919BMPR2c.1040G= (p.Cys347=)
c.971G= (p.Cys324=)
2g.202530866G>TCA350341423BMPR2c.1040G>T (p.Cys347Phe)
c.971G>T (p.Cys324Phe)
2g.202530867T>ACA350341425BMPR2c.1041T>A (p.Cys347Ter)
c.972T>A (p.Cys324Ter)
2g.202530867T>CCA430847631BMPR2c.1041T>C (p.Cys347=)
c.972T>C (p.Cys324=)
2g.202530867T>GCA350341426BMPR2c.1041T>G (p.Cys347Trp)
c.972T>G (p.Cys324Trp)
2g.202530868_202530873delCA2586965556BMPR2c.1042_1047del (p.Val348_Ile349del)
c.973_978del (p.Val325_Ile326del)
2g.202530868G>ACA2061283BMPR2c.1042G>A (p.Val348Ile)
c.973G>A (p.Val325Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.202530868G>CCA350341427BMPR2c.1042G>C (p.Val348Leu)
c.973G>C (p.Val325Leu)
 gnomAD v4
2g.202530868G=CA1321544920BMPR2c.1042G= (p.Val348=)
c.973G= (p.Val325=)
2g.202530868G>TCA350341428BMPR2c.1042G>T (p.Val348Phe)
c.973G>T (p.Val325Phe)
2g.202530868_202530869delinsGTCA1321544921BMPR2c.1042_1043delinsGT (p.Val348=)
c.973_974delinsGT (p.Val325=)
2g.202530870_202530876delCA2586965557BMPR2c.1044_1050del (p.Ile349ThrfsTer6)
c.975_981del (p.Ile326ThrfsTer6)
2g.202530869T>ACA350341429BMPR2c.1043T>A (p.Val348Asp)
c.974T>A (p.Val325Asp)
2g.202530869T>CCA350341430BMPR2c.1043T>C (p.Val348Ala)
c.974T>C (p.Val325Ala)
2g.202530869T>GCA350341431BMPR2c.1043T>G (p.Val348Gly)
c.974T>G (p.Val325Gly)
2g.202530870delCA645293972BMPR2c.1044del (p.Ile349LeufsTer8)
c.975del (p.Ile326LeufsTer8)
 ClinVar dbSNP
2g.202530870T>ACA430847650BMPR2c.1044T>A (p.Val348=)
c.975T>A (p.Val325=)
2g.202530870T>CCA430847653BMPR2c.1044T>C (p.Val348=)
c.975T>C (p.Val325=)
 dbSNP
2g.202530870T>GCA430847655BMPR2c.1044T>G (p.Val348=)
c.975T>G (p.Val325=)
2g.202530870T=CA1321544922BMPR2c.1044T= (p.Val348=)
c.975T= (p.Val325=)
2g.202530870_202530874delinsGCA2586965558BMPR2c.1044_1048delinsG (p.Ile349ValfsTer7)
c.975_979delinsG (p.Ile326ValfsTer7)
2g.202530871A>CCA350341432BMPR2c.1045A>C (p.Ile349Leu)
c.976A>C (p.Ile326Leu)
2g.202530871A>GCA350341433BMPR2c.1045A>G (p.Ile349Val)
c.976A>G (p.Ile326Val)
 gnomAD v4
2g.202530871A>TCA350341434BMPR2c.1045A>T (p.Ile349Phe)
c.976A>T (p.Ile326Phe)
2g.202530872T>ACA350341435BMPR2c.1046T>A (p.Ile349Asn)
c.977T>A (p.Ile326Asn)
2g.202530872T>CCA350341437BMPR2c.1046T>C (p.Ile349Thr)
c.977T>C (p.Ile326Thr)
 gnomAD v4
2g.202530872T>GCA350341436BMPR2c.1046T>G (p.Ile349Ser)
c.977T>G (p.Ile326Ser)
2g.202530873T>ACA430847671BMPR2c.1047T>A (p.Ile349=)
c.978T>A (p.Ile326=)
2g.202530873T>CCA430847674BMPR2c.1047T>C (p.Ile349=)
c.978T>C (p.Ile326=)
 gnomAD v4
2g.202530873T>GCA350341438BMPR2c.1047T>G (p.Ile349Met)
c.978T>G (p.Ile326Met)
2g.202530874A>CCA350341439BMPR2c.1048A>C (p.Ser350Arg)
c.979A>C (p.Ser327Arg)
2g.202530874A>GCA350341440BMPR2c.1048A>G (p.Ser350Gly)
c.979A>G (p.Ser327Gly)
2g.202530874A>TCA350341441BMPR2c.1048A>T (p.Ser350Cys)
c.979A>T (p.Ser327Cys)
 gnomAD v4
2g.202530875G>ACA350341442BMPR2c.1049G>A (p.Ser350Asn)
c.980G>A (p.Ser327Asn)
2g.202530875G>CCA350341443BMPR2c.1049G>C (p.Ser350Thr)
c.980G>C (p.Ser327Thr)
2g.202530875G>TCA350341444BMPR2c.1049G>T (p.Ser350Ile)
c.980G>T (p.Ser327Ile)
2g.202530876T>ACA350341445BMPR2c.1050T>A (p.Ser350Arg)
c.981T>A (p.Ser327Arg)
2g.202530876T>CCA430847690BMPR2c.1050T>C (p.Ser350=)
c.981T>C (p.Ser327=)
2g.202530876T>GCA350341446BMPR2c.1050T>G (p.Ser350Arg)
c.981T>G (p.Ser327Arg)
2g.202530877G>ACA350341447BMPR2c.1051G>A (p.Asp351Asn)
c.982G>A (p.Asp328Asn)
2g.202530877G>CCA350341448BMPR2c.1051G>C (p.Asp351His)
c.982G>C (p.Asp328His)
2g.202530877G>TCA350341449BMPR2c.1051G>T (p.Asp351Tyr)
c.982G>T (p.Asp328Tyr)
2g.202530878A>CCA350341452BMPR2c.1052A>C (p.Asp351Ala)
c.983A>C (p.Asp328Ala)
2g.202530878A>GCA350341450BMPR2c.1052A>G (p.Asp351Gly)
c.983A>G (p.Asp328Gly)
2g.202530878A>TCA350341451BMPR2c.1052A>T (p.Asp351Val)
c.983A>T (p.Asp328Val)
2g.202530879C>ACA350341453BMPR2c.1053C>A (p.Asp351Glu)
c.984C>A (p.Asp328Glu)
2g.202530879C=CA1321544923BMPR2c.1053C= (p.Asp351=)
c.984C= (p.Asp328=)
2g.202530879C>GCA350341454BMPR2c.1053C>G (p.Asp351Glu)
c.984C>G (p.Asp328Glu)
2g.202530879C>TCA430847709BMPR2c.1053C>T (p.Asp351=)
c.984C>T (p.Asp328=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.202530880T>ACA350341455BMPR2c.1054T>A (p.Phe352Ile)
c.985T>A (p.Phe329Ile)
2g.202530880T>CCA350341456BMPR2c.1054T>C (p.Phe352Leu)
c.985T>C (p.Phe329Leu)
2g.202530880T>GCA350341457BMPR2c.1054T>G (p.Phe352Val)
c.985T>G (p.Phe329Val)
2g.202530881T>ACA350341458BMPR2c.1055T>A (p.Phe352Tyr)
c.986T>A (p.Phe329Tyr)
2g.202530881T>CCA350341459BMPR2c.1055T>C (p.Phe352Ser)
c.986T>C (p.Phe329Ser)
2g.202530881T>GCA350341460BMPR2c.1055T>G (p.Phe352Cys)
c.986T>G (p.Phe329Cys)
2g.202530882T>ACA350341461BMPR2c.1056T>A (p.Phe352Leu)
c.987T>A (p.Phe329Leu)
2g.202530882T>CCA430847725BMPR2c.1056T>C (p.Phe352=)
c.987T>C (p.Phe329=)
2g.202530882T>GCA350341462BMPR2c.1056T>G (p.Phe352Leu)
c.987T>G (p.Phe329Leu)
2g.202530883G>ACA350341465BMPR2c.1057G>A (p.Gly353Arg)
c.988G>A (p.Gly330Arg)
2g.202530883G>CCA350341464BMPR2c.1057G>C (p.Gly353Arg)
c.988G>C (p.Gly330Arg)
2g.202530883G>TCA350341463BMPR2c.1057G>T (p.Gly353Ter)
c.988G>T (p.Gly330Ter)
2g.202530884G>ACA350341466BMPR2c.1058G>A (p.Gly353Glu)
c.989G>A (p.Gly330Glu)
2g.202530884G>CCA350341468BMPR2c.1058G>C (p.Gly353Ala)
c.989G>C (p.Gly330Ala)
2g.202530884G>TCA350341467BMPR2c.1058G>T (p.Gly353Val)
c.989G>T (p.Gly330Val)
2g.202530885A=CA1321544925BMPR2c.1059A= (p.Gly353=)
c.990A= (p.Gly330=)
2g.202530885A>CCA430847743BMPR2c.1059A>C (p.Gly353=)
c.990A>C (p.Gly330=)
2g.202530885A>GCA430847745BMPR2c.1059A>G (p.Gly353=)
c.990A>G (p.Gly330=)
 dbSNP gnomAD v2
2g.202530885A>TCA430847748BMPR2c.1059A>T (p.Gly353=)
c.990A>T (p.Gly330=)
2g.202530885_202530886delinsACCA1321544924BMPR2c.1059_1060delinsAC (p.Gly353=)
c.990_991delinsAC (p.Gly330=)
2g.202530886delCA645293973BMPR2c.1060del (p.Leu354CysfsTer3)
c.991del (p.Leu331CysfsTer3)
 ClinVar dbSNP
2g.202530886C>ACA350341469BMPR2c.1060C>A (p.Leu354Met)
c.991C>A (p.Leu331Met)
2g.202530886C=CA1321544926BMPR2c.1060C= (p.Leu354=)
c.991C= (p.Leu331=)
2g.202530886C>GCA350341470BMPR2c.1060C>G (p.Leu354Val)
c.991C>G (p.Leu331Val)
2g.202530886C>TCA430847752BMPR2c.1060C>T (p.Leu354=)
c.991C>T (p.Leu331=)
 dbSNP
2g.202530887T>ACA350341471BMPR2c.1061T>A (p.Leu354Gln)
c.992T>A (p.Leu331Gln)
2g.202530887T>CCA350341472BMPR2c.1061T>C (p.Leu354Pro)
c.992T>C (p.Leu331Pro)
 gnomAD v4
2g.202530887T>GCA350341473BMPR2c.1061T>G (p.Leu354Arg)
c.992T>G (p.Leu331Arg)
2g.202530888G>ACA430847768BMPR2c.1062G>A (p.Leu354=)
c.993G>A (p.Leu331=)
 gnomAD v4 COSMIC
2g.202530888G>CCA430847770BMPR2c.1062G>C (p.Leu354=)
c.993G>C (p.Leu331=)
2g.202530888G>TCA430847776BMPR2c.1062G>T (p.Leu354=)
c.993G>T (p.Leu331=)
2g.202530889T>ACA350341474BMPR2c.1063T>A (p.Ser355Thr)
c.994T>A (p.Ser332Thr)
2g.202530889T>CCA350341475BMPR2c.1063T>C (p.Ser355Pro)
c.994T>C (p.Ser332Pro)
2g.202530889T>GCA350341476BMPR2c.1063T>G (p.Ser355Ala)
c.994T>G (p.Ser332Ala)
2g.202530890C>ACA350341477BMPR2c.1064C>A (p.Ser355Tyr)
c.995C>A (p.Ser332Tyr)
2g.202530890C>GCA350341478BMPR2c.1064C>G (p.Ser355Cys)
c.995C>G (p.Ser332Cys)
2g.202530890C>TCA350341479BMPR2c.1064C>T (p.Ser355Phe)
c.995C>T (p.Ser332Phe)
2g.202530891C>ACA430847795BMPR2c.1065C>A (p.Ser355=)
c.996C>A (p.Ser332=)
2g.202530891C>GCA430847797BMPR2c.1065C>G (p.Ser355=)
c.996C>G (p.Ser332=)
2g.202530891C>TCA430847800BMPR2c.1065C>T (p.Ser355=)
c.996C>T (p.Ser332=)
 dbSNP
2g.202530892A=CA1321544927BMPR2c.1066A= (p.Met356=)
c.997A= (p.Met333=)
2g.202530892A>CCA350341482BMPR2c.1066A>C (p.Met356Leu)
c.997A>C (p.Met333Leu)
2g.202530892A>GCA350341481BMPR2c.1066A>G (p.Met356Val)
c.997A>G (p.Met333Val)
2g.202530892A>TCA350341480BMPR2c.1066A>T (p.Met356Leu)
c.997A>T (p.Met333Leu)
 ClinVar dbSNP
2g.202530893T>ACA350341483BMPR2c.1067T>A (p.Met356Lys)
c.998T>A (p.Met333Lys)
2g.202530893T>CCA350341484BMPR2c.1067T>C (p.Met356Thr)
c.998T>C (p.Met333Thr)
2g.202530893T>GCA350341485BMPR2c.1067T>G (p.Met356Arg)
c.998T>G (p.Met333Arg)
 gnomAD v4
2g.202530894G>ACA350341486BMPR2c.1068G>A (p.Met356Ile)
c.999G>A (p.Met333Ile)
 dbSNP gnomAD v4
2g.202530894G>CCA350341487BMPR2c.1068G>C (p.Met356Ile)
c.999G>C (p.Met333Ile)
2g.202530894G=CA1321544928BMPR2c.1068G= (p.Met356=)
c.999G= (p.Met333=)
2g.202530894G>TCA350341488BMPR2c.1068G>T (p.Met356Ile)
c.999G>T (p.Met333Ile)
2g.202530895delCA2573134352BMPR2c.1069del (p.Arg357GlyfsTer2)
c.1000del (p.Arg334GlyfsTer2)
 ClinVar dbSNP
2g.202530895A>CCA430847822BMPR2c.1069A>C (p.Arg357=)
c.1000A>C (p.Arg334=)
2g.202530895A>GCA350341489BMPR2c.1069A>G (p.Arg357Gly)
c.1000A>G (p.Arg334Gly)
2g.202530895A>TCA350341490BMPR2c.1069A>T (p.Arg357Trp)
c.1000A>T (p.Arg334Trp)
2g.202530896G>ACA350341491BMPR2c.1070G>A (p.Arg357Lys)
c.1001G>A (p.Arg334Lys)
 ClinVar dbSNP gnomAD v4
2g.202530896G>CCA350341492BMPR2c.1070G>C (p.Arg357Thr)
c.1001G>C (p.Arg334Thr)
2g.202530896G=CA1321544929BMPR2c.1070G= (p.Arg357=)
c.1001G= (p.Arg334=)
2g.202530896G>TCA350341493BMPR2c.1070G>T (p.Arg357Met)
c.1001G>T (p.Arg334Met)
2g.202530897G>ACA430847840BMPR2c.1071G>A (p.Arg357=)
c.1002G>A (p.Arg334=)
 gnomAD v4
2g.202530897G>CCA350341494BMPR2c.1071G>C (p.Arg357Ser)
c.1002G>C (p.Arg334Ser)
2g.202530897G>TCA350341495BMPR2c.1071G>T (p.Arg357Ser)
c.1002G>T (p.Arg334Ser)
2g.202530898C>ACA350341496BMPR2c.1072C>A (p.Leu358Met)
c.1003C>A (p.Leu335Met)
2g.202530898C=CA1321544930BMPR2c.1072C= (p.Leu358=)
c.1003C= (p.Leu335=)
2g.202530898C>GCA2061284BMPR2c.1072C>G (p.Leu358Val)
c.1003C>G (p.Leu335Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.202530898C>TCA430847854BMPR2c.1072C>T (p.Leu358=)
c.1003C>T (p.Leu335=)
 gnomAD v4
2g.202530899T>ACA350341497BMPR2c.1073T>A (p.Leu358Gln)
c.1004T>A (p.Leu335Gln)
2g.202530899T>CCA350341498BMPR2c.1073T>C (p.Leu358Pro)
c.1004T>C (p.Leu335Pro)
2g.202530899T>GCA350341499BMPR2c.1073T>G (p.Leu358Arg)
c.1004T>G (p.Leu335Arg)
2g.202530900G>ACA430847863BMPR2c.1074G>A (p.Leu358=)
c.1005G>A (p.Leu335=)
2g.202530900G>CCA430847859BMPR2c.1074G>C (p.Leu358=)
c.1005G>C (p.Leu335=)
2g.202530900G>TCA430847861BMPR2c.1074G>T (p.Leu358=)
c.1005G>T (p.Leu335=)
2g.202530901A>CCA350341500BMPR2c.1075A>C (p.Thr359Pro)
c.1006A>C (p.Thr336Pro)
2g.202530901A>GCA350341501BMPR2c.1075A>G (p.Thr359Ala)
c.1006A>G (p.Thr336Ala)
2g.202530901A>TCA350341502BMPR2c.1075A>T (p.Thr359Ser)
c.1006A>T (p.Thr336Ser)
2g.202530901_202530902delinsACCA1321544931BMPR2c.1075_1076delinsAC (p.Thr359=)
c.1006_1007delinsAC (p.Thr336=)
2g.202530902delCA645293974BMPR2c.1076del (p.Thr359MetfsTer16)
c.1007del (p.Thr336MetfsTer16)
 ClinVar dbSNP
2g.202530902C>ACA350341503BMPR2c.1076C>A (p.Thr359Asn)
c.1007C>A (p.Thr336Asn)
2g.202530902C>GCA350341504BMPR2c.1076C>G (p.Thr359Ser)
c.1007C>G (p.Thr336Ser)
2g.202530902C>TCA350341505BMPR2c.1076C>T (p.Thr359Ile)
c.1007C>T (p.Thr336Ile)
2g.202530902_202530904delinsCTGCA1321544932BMPR2c.1076_1078delinsCTG (p.Thr359=)
c.1007_1009delinsCTG (p.Thr336=)
2g.202530903T>ACA430847892BMPR2c.1077T>A (p.Thr359=)
c.1008T>A (p.Thr336=)
2g.202530903T>CCA430847901BMPR2c.1077T>C (p.Thr359=)
c.1008T>C (p.Thr336=)
2g.202530903T>GCA430847893BMPR2c.1077T>G (p.Thr359=)
c.1008T>G (p.Thr336=)
2g.202530903_202530904delCA915941650BMPR2c.1077_1078del (p.Gly360LysfsTer2)
c.1008_1009del (p.Gly337LysfsTer2)
 ClinVar dbSNP
2g.202530904G>ACA350341506BMPR2c.1078G>A (p.Gly360Arg)
c.1009G>A (p.Gly337Arg)
2g.202530904G>CCA350341507BMPR2c.1078G>C (p.Gly360Arg)
c.1009G>C (p.Gly337Arg)
2g.202530904G>TCA350341508BMPR2c.1078G>T (p.Gly360Ter)
c.1009G>T (p.Gly337Ter)
2g.202530905G>ACA350341511BMPR2c.1079G>A (p.Gly360Glu)
c.1010G>A (p.Gly337Glu)
2g.202530905G>CCA350341510BMPR2c.1079G>C (p.Gly360Ala)
c.1010G>C (p.Gly337Ala)
 gnomAD v4
2g.202530905G=CA1321544933BMPR2c.1079G= (p.Gly360=)
c.1010G= (p.Gly337=)
2g.202530905G>TCA350341509BMPR2c.1079G>T (p.Gly360Val)
c.1010G>T (p.Gly337Val)
 dbSNP
2g.202530906A>CCA430847920BMPR2c.1080A>C (p.Gly360=)
c.1011A>C (p.Gly337=)
2g.202530906A>GCA430847922BMPR2c.1080A>G (p.Gly360=)
c.1011A>G (p.Gly337=)
2g.202530906A>TCA430847925BMPR2c.1080A>T (p.Gly360=)
c.1011A>T (p.Gly337=)
2g.202530907A>CCA350341512BMPR2c.1081A>C (p.Asn361His)
c.1012A>C (p.Asn338His)
2g.202530907A>GCA350341513BMPR2c.1081A>G (p.Asn361Asp)
c.1012A>G (p.Asn338Asp)
2g.202530907A>TCA350341514BMPR2c.1081A>T (p.Asn361Tyr)
c.1012A>T (p.Asn338Tyr)
2g.202530908A>CCA350341515BMPR2c.1082A>C (p.Asn361Thr)
c.1013A>C (p.Asn338Thr)
2g.202530908A>GCA350341516BMPR2c.1082A>G (p.Asn361Ser)
c.1013A>G (p.Asn338Ser)
2g.202530908A>TCA350341517BMPR2c.1082A>T (p.Asn361Ile)
c.1013A>T (p.Asn338Ile)
2g.202530909T>ACA350341518BMPR2c.1083T>A (p.Asn361Lys)
c.1014T>A (p.Asn338Lys)
2g.202530909T>CCA430847947BMPR2c.1083T>C (p.Asn361=)
c.1014T>C (p.Asn338=)
 ClinVar
2g.202530909T>GCA350341519BMPR2c.1083T>G (p.Asn361Lys)
c.1014T>G (p.Asn338Lys)
 gnomAD v4
2g.202530910A>CCA430847954BMPR2c.1084A>C (p.Arg362=)
c.1015A>C (p.Arg339=)
2g.202530910A>GCA350341520BMPR2c.1084A>G (p.Arg362Gly)
c.1015A>G (p.Arg339Gly)
2g.202530910A>TCA350341521BMPR2c.1084A>T (p.Arg362Ter)
c.1015A>T (p.Arg339Ter)
2g.202530911G>ACA350341522BMPR2c.1085G>A (p.Arg362Lys)
c.1016G>A (p.Arg339Lys)
2g.202530911G>CCA350341523BMPR2c.1085G>C (p.Arg362Thr)
c.1016G>C (p.Arg339Thr)
2g.202530911G>TCA350341524BMPR2c.1085G>T (p.Arg362Ile)
c.1016G>T (p.Arg339Ile)
2g.202530912A>CCA350341525BMPR2c.1086A>C (p.Arg362Ser)
c.1017A>C (p.Arg339Ser)
2g.202530912A>GCA430847965BMPR2c.1086A>G (p.Arg362=)
c.1017A>G (p.Arg339=)
2g.202530912A>TCA350341526BMPR2c.1086A>T (p.Arg362Ser)
c.1017A>T (p.Arg339Ser)
2g.202530913C>ACA350341527BMPR2c.1087C>A (p.Leu363Met)
c.1018C>A (p.Leu340Met)
2g.202530913C=CA1321544934BMPR2c.1087C= (p.Leu363=)
c.1018C= (p.Leu340=)
2g.202530913C>GCA2061285BMPR2c.1087C>G (p.Leu363Val)
c.1018C>G (p.Leu340Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.202530913C>TCA430847970BMPR2c.1087C>T (p.Leu363=)
c.1018C>T (p.Leu340=)
 dbSNP gnomAD v4
2g.202530914T>ACA350341528BMPR2c.1088T>A (p.Leu363Gln)
c.1019T>A (p.Leu340Gln)
2g.202530914T>CCA350341530BMPR2c.1088T>C (p.Leu363Pro)
c.1019T>C (p.Leu340Pro)
2g.202530914T>GCA350341529BMPR2c.1088T>G (p.Leu363Arg)
c.1019T>G (p.Leu340Arg)
2g.202530915G>ACA430847982BMPR2c.1089G>A (p.Leu363=)
c.1020G>A (p.Leu340=)
2g.202530915G>CCA430847983BMPR2c.1089G>C (p.Leu363=)
c.1020G>C (p.Leu340=)
 gnomAD v4
2g.202530915G>TCA430847985BMPR2c.1089G>T (p.Leu363=)
c.1020G>T (p.Leu340=)
 gnomAD v4
2g.202530916delCA2586965559BMPR2c.1090del (p.Val364CysfsTer11)
c.1021del (p.Val341CysfsTer11)
2g.202530916G>ACA350341531BMPR2c.1090G>A (p.Val364Met)
c.1021G>A (p.Val341Met)
2g.202530916G>CCA350341532BMPR2c.1090G>C (p.Val364Leu)
c.1021G>C (p.Val341Leu)
2g.202530916G>TCA350341533BMPR2c.1090G>T (p.Val364Leu)
c.1021G>T (p.Val341Leu)
2g.202530917delCA2499215572BMPR2c.1091del (p.Val364GlyfsTer11)
c.1022del (p.Val341GlyfsTer11)
 ClinVar dbSNP
2g.202530917T>ACA350341534BMPR2c.1091T>A (p.Val364Glu)
c.1022T>A (p.Val341Glu)
2g.202530917T>CCA350341535BMPR2c.1091T>C (p.Val364Ala)
c.1022T>C (p.Val341Ala)
 gnomAD v4
2g.202530917T>GCA350341536BMPR2c.1091T>G (p.Val364Gly)
c.1022T>G (p.Val341Gly)
2g.202530918G>ACA430848001BMPR2c.1092G>A (p.Val364=)
c.1023G>A (p.Val341=)
2g.202530918G>CCA430848007BMPR2c.1092G>C (p.Val364=)
c.1023G>C (p.Val341=)
2g.202530918G>TCA430848004BMPR2c.1092G>T (p.Val364=)
c.1023G>T (p.Val341=)
2g.202530918_202530924delinsGCGCCCACA1321544935BMPR2c.1092_1098delinsGCGCCCA (p.Val364=)
c.1023_1029delinsGCGCCCA (p.Val341=)
2g.202530919C>ACA350341537BMPR2c.1093C>A (p.Arg365Ser)
c.1024C>A (p.Arg342Ser)
2g.202530919C=CA1321544936BMPR2c.1093C= (p.Arg365=)
c.1024C= (p.Arg342=)
2g.202530919C>GCA350341538BMPR2c.1093C>G (p.Arg365Gly)
c.1024C>G (p.Arg342Gly)
2g.202530919C>TCA2061286BMPR2c.1093C>T (p.Arg365Cys)
c.1024C>T (p.Arg342Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.202530919_202530924delinsGCA645293975BMPR2c.1093_1098delinsG (p.Arg365GlyfsTer5)
c.1024_1029delinsG (p.Arg342GlyfsTer5)
 ClinVar dbSNP
2g.202530920G>ACA2061287BMPR2c.1094G>A (p.Arg365His)
c.1025G>A (p.Arg342His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.202530920G>CCA350341539BMPR2c.1094G>C (p.Arg365Pro)
c.1025G>C (p.Arg342Pro)
2g.202530920G=CA1321544937BMPR2c.1094G= (p.Arg365=)
c.1025G= (p.Arg342=)
2g.202530920G>TCA350341540BMPR2c.1094G>T (p.Arg365Leu)
c.1025G>T (p.Arg342Leu)
2g.202530920_202530921delinsGCCA1321544938BMPR2c.1094_1095delinsGC (p.Arg365=)
c.1025_1026delinsGC (p.Arg342=)
2g.202530921C>ACA430848025BMPR2c.1095C>A (p.Arg365=)
c.1026C>A (p.Arg342=)
2g.202530921C=CA1321544939BMPR2c.1095C= (p.Arg365=)
c.1026C= (p.Arg342=)
2g.202530921C>GCA430848033BMPR2c.1095C>G (p.Arg365=)
c.1026C>G (p.Arg342=)
2g.202530921C>TCA2061288BMPR2c.1095C>T (p.Arg365=)
c.1026C>T (p.Arg342=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.202530923delCA645293976BMPR2c.1097del (p.Pro366GlnfsTer9)
c.1028del (p.Pro343GlnfsTer9)
 ClinVar dbSNP
2g.202530922C>ACA350341541BMPR2c.1096C>A (p.Pro366Thr)
c.1027C>A (p.Pro343Thr)
2g.202530922C=CA1321544940BMPR2c.1096C= (p.Pro366=)
c.1027C= (p.Pro343=)
2g.202530922C>GCA2061289BMPR2c.1096C>G (p.Pro366Ala)
c.1027C>G (p.Pro343Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.202530922C>TCA2061290BMPR2c.1096C>T (p.Pro366Ser)
c.1027C>T (p.Pro343Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.202530923C>ACA350341542BMPR2c.1097C>A (p.Pro366Gln)
c.1028C>A (p.Pro343Gln)
 dbSNP
2g.202530923C=CA1321544942BMPR2c.1097C= (p.Pro366=)
c.1028C= (p.Pro343=)
2g.202530923C>GCA350341543BMPR2c.1097C>G (p.Pro366Arg)
c.1028C>G (p.Pro343Arg)
2g.202530923C>TCA350341544BMPR2c.1097C>T (p.Pro366Leu)
c.1028C>T (p.Pro343Leu)
 dbSNP gnomAD v4
2g.202530923_202530928delinsCAGGGGCA1321544941BMPR2c.1097_1102delinsCAGGGG (p.Pro366=)
c.1028_1033delinsCAGGGG (p.Pro343=)
2g.202530924A=CA1321544943BMPR2c.1098A= (p.Pro366=)
c.1029A= (p.Pro343=)
2g.202530924A>CCA430848042BMPR2c.1098A>C (p.Pro366=)
c.1029A>C (p.Pro343=)
2g.202530924A>GCA430848044BMPR2c.1098A>G (p.Pro366=)
c.1029A>G (p.Pro343=)
 dbSNP
2g.202530924A>TCA430848048BMPR2c.1098A>T (p.Pro366=)
c.1029A>T (p.Pro343=)
2g.202530927_202530931delCA645293977BMPR2c.1101_1105del (p.Glu368ArgfsTer2)
c.1032_1036del (p.Glu345ArgfsTer2)
 ClinVar dbSNP
2g.202530925G>ACA350341545BMPR2c.1099G>A (p.Gly367Arg)
c.1030G>A (p.Gly344Arg)
 gnomAD v4
2g.202530925G>CCA64023433BMPR2c.1099G>C (p.Gly367Arg)
c.1030G>C (p.Gly344Arg)
 dbSNP gnomAD v2 gnomAD v4
2g.202530925G=CA1321544944BMPR2c.1099G= (p.Gly367=)
c.1030G= (p.Gly344=)
2g.202530925G>TCA350341546BMPR2c.1099G>T (p.Gly367Trp)
c.1030G>T (p.Gly344Trp)
2g.202530926G>ACA350341547BMPR2c.1100G>A (p.Gly367Glu)
c.1031G>A (p.Gly344Glu)
 COSMIC
2g.202530926G>CCA350341548BMPR2c.1100G>C (p.Gly367Ala)
c.1031G>C (p.Gly344Ala)
2g.202530926G>TCA350341549BMPR2c.1100G>T (p.Gly367Val)
c.1031G>T (p.Gly344Val)
2g.202530927G>ACA430848066BMPR2c.1101G>A (p.Gly367=)
c.1032G>A (p.Gly344=)
2g.202530927G>CCA430848067BMPR2c.1101G>C (p.Gly367=)
c.1032G>C (p.Gly344=)
2g.202530927G>TCA430848068BMPR2c.1101G>T (p.Gly367=)
c.1032G>T (p.Gly344=)
2g.202530928G>ACA350341552BMPR2c.1102G>A (p.Glu368Lys)
c.1033G>A (p.Glu345Lys)
2g.202530928G>CCA350341551BMPR2c.1102G>C (p.Glu368Gln)
c.1033G>C (p.Glu345Gln)
2g.202530928G>TCA350341550BMPR2c.1102G>T (p.Glu368Ter)
c.1033G>T (p.Glu345Ter)
 ClinVar dbSNP
2g.202530929A>CCA350341553BMPR2c.1103A>C (p.Glu368Ala)
c.1034A>C (p.Glu345Ala)
2g.202530929A>GCA350341554BMPR2c.1103A>G (p.Glu368Gly)
c.1034A>G (p.Glu345Gly)
2g.202530929A>TCA350341555BMPR2c.1103A>T (p.Glu368Val)
c.1034A>T (p.Glu345Val)
2g.202530930G>ACA64023437BMPR2c.1104G>A (p.Glu368=)
c.1035G>A (p.Glu345=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.202530930G>CCA350341556BMPR2c.1104G>C (p.Glu368Asp)
c.1035G>C (p.Glu345Asp)
2g.202530930G=CA1321544945BMPR2c.1104G= (p.Glu368=)
c.1035G= (p.Glu345=)
2g.202530930G>TCA350341557BMPR2c.1104G>T (p.Glu368Asp)
c.1035G>T (p.Glu345Asp)
2g.202530931G>ACA2061291BMPR2c.1105G>A (p.Glu369Lys)
c.1036G>A (p.Glu346Lys)
 dbSNP ExAC
2g.202530931G>CCA350341558BMPR2c.1105G>C (p.Glu369Gln)
c.1036G>C (p.Glu346Gln)
2g.202530931G=CA1321544946BMPR2c.1105G= (p.Glu369=)
c.1036G= (p.Glu346=)
2g.202530931G>TCA350341559BMPR2c.1105G>T (p.Glu369Ter)
c.1036G>T (p.Glu346Ter)
2g.202530932A>CCA350341560BMPR2c.1106A>C (p.Glu369Ala)
c.1037A>C (p.Glu346Ala)
2g.202530932A>GCA350341561BMPR2c.1106A>G (p.Glu369Gly)
c.1037A>G (p.Glu346Gly)
2g.202530932A>TCA350341562BMPR2c.1106A>T (p.Glu369Val)
c.1037A>T (p.Glu346Val)
2g.202530933A>CCA350341563BMPR2c.1107A>C (p.Glu369Asp)
c.1038A>C (p.Glu346Asp)
2g.202530933A>GCA430848137BMPR2c.1107A>G (p.Glu369=)
c.1038A>G (p.Glu346=)
 gnomAD v4
2g.202530933A>TCA350341564BMPR2c.1107A>T (p.Glu369Asp)
c.1038A>T (p.Glu346Asp)
2g.202530934G>ACA350341565BMPR2c.1108G>A (p.Asp370Asn)
c.1039G>A (p.Asp347Asn)
2g.202530934G>CCA350341567BMPR2c.1108G>C (p.Asp370His)
c.1039G>C (p.Asp347His)
2g.202530934G>TCA350341566BMPR2c.1108G>T (p.Asp370Tyr)
c.1039G>T (p.Asp347Tyr)
2g.202530935A>CCA350341568BMPR2c.1109A>C (p.Asp370Ala)
c.1040A>C (p.Asp347Ala)
2g.202530935A>GCA350341569BMPR2c.1109A>G (p.Asp370Gly)
c.1040A>G (p.Asp347Gly)
2g.202530935A>TCA350341570BMPR2c.1109A>T (p.Asp370Val)
c.1040A>T (p.Asp347Val)
2g.202530936T>ACA2061292BMPR2c.1110T>A (p.Asp370Glu)
c.1041T>A (p.Asp347Glu)
 dbSNP ExAC
2g.202530936T>CCA430848175BMPR2c.1110T>C (p.Asp370=)
c.1041T>C (p.Asp347=)
2g.202530936T>GCA350341571BMPR2c.1110T>G (p.Asp370Glu)
c.1041T>G (p.Asp347Glu)
2g.202530936T=CA1321544947BMPR2c.1110T= (p.Asp370=)
c.1041T= (p.Asp347=)
2g.202530937A>CCA350341572BMPR2c.1111A>C (p.Asn371His)
c.1042A>C (p.Asn348His)
2g.202530937A>GCA350341573BMPR2c.1111A>G (p.Asn371Asp)
c.1042A>G (p.Asn348Asp)
2g.202530937A>TCA350341574BMPR2c.1111A>T (p.Asn371Tyr)
c.1042A>T (p.Asn348Tyr)
2g.202530938A=CA1321544948BMPR2c.1112A= (p.Asn371=)
c.1043A= (p.Asn348=)
2g.202530938A>CCA350341575BMPR2c.1112A>C (p.Asn371Thr)
c.1043A>C (p.Asn348Thr)
2g.202530938A>GCA350341576BMPR2c.1112A>G (p.Asn371Ser)
c.1043A>G (p.Asn348Ser)
2g.202530938A>TCA350341577BMPR2c.1112A>T (p.Asn371Ile)
c.1043A>T (p.Asn348Ile)
2g.202530939delCA658761120BMPR2c.1113del (p.Asn371LysfsTer4)
c.1044del (p.Asn348LysfsTer4)
2g.202530939T>ACA350341579BMPR2c.1113T>A (p.Asn371Lys)
c.1044T>A (p.Asn348Lys)
2g.202530939T>CCA2061293BMPR2c.1113T>C (p.Asn371=)
c.1044T>C (p.Asn348=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.202530939T>GCA350341578BMPR2c.1113T>G (p.Asn371Lys)
c.1044T>G (p.Asn348Lys)
2g.202530939T=CA1321544949BMPR2c.1113T= (p.Asn371=)
c.1044T= (p.Asn348=)
2g.202530939dupCA645293978BMPR2c.1113dup (p.Ala372CysfsTer27)
c.1044dup (p.Ala349CysfsTer27)
 ClinVar dbSNP
2g.202530940G>ACA350341581BMPR2c.1114G>A (p.Ala372Thr)
c.1045G>A (p.Ala349Thr)
 ClinVar COSMIC
2g.202530940G>CCA2061294BMPR2c.1114G>C (p.Ala372Pro)
c.1045G>C (p.Ala349Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.202530940G=CA1321544950BMPR2c.1114G= (p.Ala372=)
c.1045G= (p.Ala349=)
2g.202530940G>TCA350341580BMPR2c.1114G>T (p.Ala372Ser)
c.1045G>T (p.Ala349Ser)
2g.202530942_202530944dupCA539387044BMPR2c.1116_1118dup (p.Ala373_Ile374insAla)
c.1047_1049dup (p.Ala350_Ile351insAla)
 dbSNP gnomAD v2 gnomAD v4
2g.202530941C>ACA350341582BMPR2c.1115C>A (p.Ala372Glu)
c.1046C>A (p.Ala349Glu)
2g.202530941C>GCA350341583BMPR2c.1115C>G (p.Ala372Gly)
c.1046C>G (p.Ala349Gly)
2g.202530941C>TCA350341584BMPR2c.1115C>T (p.Ala372Val)
c.1046C>T (p.Ala349Val)
2g.202530942A=CA1321544951BMPR2c.1116A= (p.Ala372=)
c.1047A= (p.Ala349=)
2g.202530942A>CCA430848220BMPR2c.1116A>C (p.Ala372=)
c.1047A>C (p.Ala349=)
2g.202530942A>GCA430848221BMPR2c.1116A>G (p.Ala372=)
c.1047A>G (p.Ala349=)
 dbSNP gnomAD v3 gnomAD v4
2g.202530942A>TCA430848217BMPR2c.1116A>T (p.Ala372=)
c.1047A>T (p.Ala349=)
2g.202530943G>ACA350341585BMPR2c.1117G>A (p.Ala373Thr)
c.1048G>A (p.Ala350Thr)
2g.202530943G>CCA350341586BMPR2c.1117G>C (p.Ala373Pro)
c.1048G>C (p.Ala350Pro)
 ClinVar dbSNP
2g.202530943G=CA1321544952BMPR2c.1117G= (p.Ala373=)
c.1048G= (p.Ala350=)
2g.202530943G>TCA350341587BMPR2c.1117G>T (p.Ala373Ser)
c.1048G>T (p.Ala350Ser)
2g.202530944C>ACA350341588BMPR2c.1118C>A (p.Ala373Asp)
c.1049C>A (p.Ala350Asp)
2g.202530944C=CA1321544953BMPR2c.1118C= (p.Ala373=)
c.1049C= (p.Ala350=)
2g.202530944C>GCA350341589BMPR2c.1118C>G (p.Ala373Gly)
c.1049C>G (p.Ala350Gly)
 dbSNP gnomAD v2 gnomAD v4
2g.202530944C>TCA350341590BMPR2c.1118C>T (p.Ala373Val)
c.1049C>T (p.Ala350Val)
2g.202530945C>ACA430848236BMPR2c.1119C>A (p.Ala373=)
c.1050C>A (p.Ala350=)
2g.202530945C>GCA430848239BMPR2c.1119C>G (p.Ala373=)
c.1050C>G (p.Ala350=)
2g.202530945C>TCA430848242BMPR2c.1119C>T (p.Ala373=)
c.1050C>T (p.Ala350=)
2g.202530945_202530946delinsCACA1321544954BMPR2c.1119_1120delinsCA (p.Ala373=)
c.1050_1051delinsCA (p.Ala350=)
2g.202530946delCA645293979BMPR2c.1120del (p.Ile374Ter)
c.1051del (p.Ile351Ter)
 ClinVar dbSNP
2g.202530946A=CA1321544955BMPR2c.1120A= (p.Ile374=)
c.1051A= (p.Ile351=)
2g.202530946A>CCA350341592BMPR2c.1120A>C (p.Ile374Leu)
c.1051A>C (p.Ile351Leu)
2g.202530946A>GCA2061295BMPR2c.1120A>G (p.Ile374Val)
c.1051A>G (p.Ile351Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.202530946A>TCA350341591BMPR2c.1120A>T (p.Ile374Leu)
c.1051A>T (p.Ile351Leu)
2g.202530947T>ACA350341593BMPR2c.1121T>A (p.Ile374Lys)
c.1052T>A (p.Ile351Lys)
2g.202530947T>CCA350341594BMPR2c.1121T>C (p.Ile374Thr)
c.1052T>C (p.Ile351Thr)
2g.202530947T>GCA350341595BMPR2c.1121T>G (p.Ile374Arg)
c.1052T>G (p.Ile351Arg)
2g.202530948A>CCA430848269BMPR2c.1122A>C (p.Ile374=)
c.1053A>C (p.Ile351=)
2g.202530948A>GCA350341596BMPR2c.1122A>G (p.Ile374Met)
c.1053A>G (p.Ile351Met)
2g.202530948A>TCA430848274BMPR2c.1122A>T (p.Ile374=)
c.1053A>T (p.Ile351=)
2g.202530949dupCA2586965562BMPR2c.1123dup (p.Ser375LysfsTer24)
c.1054dup (p.Ser352LysfsTer24)
2g.202530951_202530971delCA2586965563BMPR2c.1125_1128+17del
c.1056_1059+17del
2g.202530949A>CCA350341597BMPR2c.1123A>C (p.Ser375Arg)
c.1054A>C (p.Ser352Arg)
2g.202530949A>GCA350341598BMPR2c.1123A>G (p.Ser375Gly)
c.1054A>G (p.Ser352Gly)
2g.202530949A>TCA350341599BMPR2c.1123A>T (p.Ser375Cys)
c.1054A>T (p.Ser352Cys)
2g.202530950G>ACA350341600BMPR2c.1124G>A (p.Ser375Asn)
c.1055G>A (p.Ser352Asn)
2g.202530950G>CCA350341601BMPR2c.1124G>C (p.Ser375Thr)
c.1055G>C (p.Ser352Thr)
2g.202530950G>TCA350341602BMPR2c.1124G>T (p.Ser375Ile)
c.1055G>T (p.Ser352Ile)
2g.202530950_202530970delinsGCGAGGTGAGTGTATACAAAACA1321544956BMPR2c.1124_1128+16delinsGCGAGGTGAGTGTATACAAAA
c.1055_1059+16delinsGCGAGGTGAGTGTATACAAAA
2g.202530951C>ACA350341603BMPR2c.1125C>A (p.Ser375Arg)
c.1056C>A (p.Ser352Arg)
2g.202530951C=CA1321544957BMPR2c.1125C= (p.Ser375=)
c.1056C= (p.Ser352=)
2g.202530951C>GCA350341604BMPR2c.1125C>G (p.Ser375Arg)
c.1056C>G (p.Ser352Arg)
2g.202530951C>TCA430848296BMPR2c.1125C>T (p.Ser375=)
c.1056C>T (p.Ser352=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.202530951_202530970delCA10581912BMPR2c.1125_1128+16del
c.1056_1059+16del
 ClinVar dbSNP
2g.202530952G>ACA350341606BMPR2c.1126G>A (p.Glu376Lys)
c.1057G>A (p.Glu353Lys)
 ClinVar dbSNP
2g.202530952G>CCA350341607BMPR2c.1126G>C (p.Glu376Gln)
c.1057G>C (p.Glu353Gln)
2g.202530952G=CA1321544958BMPR2c.1126G= (p.Glu376=)
c.1057G= (p.Glu353=)
2g.202530952G>TCA350341605BMPR2c.1126G>T (p.Glu376Ter)
c.1057G>T (p.Glu353Ter)
 ClinVar dbSNP
2g.202530953A>CCA350341608BMPR2c.1127A>C (p.Glu376Ala)
c.1058A>C (p.Glu353Ala)
2g.202530953A>GCA350341609BMPR2c.1127A>G (p.Glu376Gly)
c.1058A>G (p.Glu353Gly)
2g.202530953A>TCA350341610BMPR2c.1127A>T (p.Glu376Val)
c.1058A>T (p.Glu353Val)
2g.202530954G>ACA2061296BMPR2c.1128G>A (p.Glu376=)
c.1059G>A (p.Glu353=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.202530954G>CCA350341611BMPR2c.1128G>C (p.Glu376Asp)
c.1059G>C (p.Glu353Asp)
2g.202530954G=CA1321544959BMPR2c.1128G= (p.Glu376=)
c.1059G= (p.Glu353=)
2g.202530954G>TCA350341612BMPR2c.1128G>T (p.Glu376Asp)
c.1059G>T (p.Glu353Asp)
2g.202530955delCA2586965564BMPR2c.1128+1del
c.1059+1del
2g.202530955G>ACA322054BMPR2c.1128+1G>A (n.1128+1G>A)
c.1059+1G>A (n.1059+1G>A)
 ClinVar dbSNP
2g.202530955G>CCA10602826BMPR2c.1128+1G>C (n.1128+1G>C)
c.1059+1G>C (n.1059+1G>C)
 ClinVar dbSNP
2g.202530955G=CA1321544960BMPR2c.1128+1G= (n.1128+1G=)
c.1059+1G= (n.1059+1G=)
2g.202530955G>TCA350341613BMPR2c.1128+1G>T (n.1128+1G>T)
c.1059+1G>T (n.1059+1G>T)
 ClinVar dbSNP
2g.202530956T>ACA350341614BMPR2c.1128+2T>A (n.1128+2T>A)
c.1059+2T>A (n.1059+2T>A)
2g.202530956T>CCA350341615BMPR2c.1128+2T>C (n.1128+2T>C)
c.1059+2T>C (n.1059+2T>C)
2g.202530956T>GCA350341616BMPR2c.1128+2T>G (n.1128+2T>G)
c.1059+2T>G (n.1059+2T>G)
 ClinVar dbSNP
2g.202530956T=CA1321544961BMPR2c.1128+2T= (n.1128+2T=)
c.1059+2T= (n.1059+2T=)
2g.202530957G>ACA539387097BMPR2c.1128+3G>A (n.1128+3G>A)
c.1059+3G>A (n.1059+3G>A)
 dbSNP gnomAD v2 gnomAD v4
2g.202530957G=CA1321544962BMPR2c.1128+3G= (n.1128+3G=)
c.1059+3G= (n.1059+3G=)
2g.202530958A=CA1321544963BMPR2c.1128+4A= (n.1128+4A=)
c.1059+4A= (n.1059+4A=)
2g.202530958A>CCA64023524BMPR2c.1128+4A>C (n.1128+4A>C)
c.1059+4A>C (n.1059+4A>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.202530959G=CA1321544964BMPR2c.1128+5G= (n.1128+5G=)
c.1059+5G= (n.1059+5G=)
2g.202530960dupCA2061297BMPR2c.1128+6dup (n.1128+6dup)
c.1059+6dup (n.1059+6dup)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.202530961G>ACA2662706177BMPR2c.1128+7G>A (n.1128+7G>A)
c.1059+7G>A (n.1059+7G>A)
 gnomAD v4
2g.202530963A>GCA2662706178BMPR2c.1128+9A>G (n.1128+9A>G)
c.1059+9A>G (n.1059+9A>G)
 gnomAD v4
2g.202530966C=CA1321544965BMPR2c.1128+12C= (n.1128+12C=)
c.1059+12C= (n.1059+12C=)
2g.202530966C>GCA2662706179BMPR2c.1128+12C>G (n.1128+12C>G)
c.1059+12C>G (n.1059+12C>G)
 gnomAD v4
2g.202530966C>TCA539387098BMPR2c.1128+12C>T (n.1128+12C>T)
c.1059+12C>T (n.1059+12C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched