Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.202532687_202532700del | CA2586971102 | BMPR2 | c.1231_1244del (p.Leu411AspfsTer?) c.1162_1175del (p.Leu388AspfsTer?) | |
2 | g.202532694A>C | CA350341925 | BMPR2 | c.1238A>C (p.Tyr413Ser) c.1169A>C (p.Tyr390Ser) | |
2 | g.202532694A>G | CA350341924 | BMPR2 | c.1238A>G (p.Tyr413Cys) c.1169A>G (p.Tyr390Cys) | gnomAD v4 |
2 | g.202532694A>T | CA350341923 | BMPR2 | c.1238A>T (p.Tyr413Phe) c.1169A>T (p.Tyr390Phe) | |
2 | g.202532695T>A | CA350341926 | BMPR2 | c.1239T>A (p.Tyr413Ter) c.1170T>A (p.Tyr390Ter) | |
2 | g.202532695T>C | CA2061320 | BMPR2 | c.1239T>C (p.Tyr413=) c.1170T>C (p.Tyr390=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.202532695T>G | CA350341927 | BMPR2 | c.1239T>G (p.Tyr413Ter) c.1170T>G (p.Tyr390Ter) | |
2 | g.202532695T= | CA1321545686 | BMPR2 | c.1239T= (p.Tyr413=) c.1170T= (p.Tyr390=) | |
2 | g.202532696T>A | CA350341928 | BMPR2 | c.1240T>A (p.Trp414Arg) c.1171T>A (p.Trp391Arg) | |
2 | g.202532696T>C | CA350341929 | BMPR2 | c.1240T>C (p.Trp414Arg) c.1171T>C (p.Trp391Arg) | |
2 | g.202532696T>G | CA350341930 | BMPR2 | c.1240T>G (p.Trp414Gly) c.1171T>G (p.Trp391Gly) | |
2 | g.202532697G>A | CA350341931 | BMPR2 | c.1241G>A (p.Trp414Ter) c.1172G>A (p.Trp391Ter) | ClinVar dbSNP |
2 | g.202532697G>C | CA350341932 | BMPR2 | c.1241G>C (p.Trp414Ser) c.1172G>C (p.Trp391Ser) | |
2 | g.202532697G= | CA1321545687 | BMPR2 | c.1241G= (p.Trp414=) c.1172G= (p.Trp391=) | |
2 | g.202532697G>T | CA350341933 | BMPR2 | c.1241G>T (p.Trp414Leu) c.1172G>T (p.Trp391Leu) | |
2 | g.202532698G>A | CA350341934 | BMPR2 | c.1242G>A (p.Trp414Ter) c.1173G>A (p.Trp391Ter) | ClinVar dbSNP |
2 | g.202532698G>C | CA350341935 | BMPR2 | c.1242G>C (p.Trp414Cys) c.1173G>C (p.Trp391Cys) | |
2 | g.202532698G= | CA1321545688 | BMPR2 | c.1242G= (p.Trp414=) c.1173G= (p.Trp391=) | |
2 | g.202532698G>T | CA350341936 | BMPR2 | c.1242G>T (p.Trp414Cys) c.1173G>T (p.Trp391Cys) | |
2 | g.202532699G>A | CA350341938 | BMPR2 | c.1243G>A (p.Glu415Lys) c.1174G>A (p.Glu392Lys) | |
2 | g.202532699G>C | CA350341939 | BMPR2 | c.1243G>C (p.Glu415Gln) c.1174G>C (p.Glu392Gln) | COSMIC |
2 | g.202532699G= | CA1321545689 | BMPR2 | c.1243G= (p.Glu415=) c.1174G= (p.Glu392=) | |
2 | g.202532699G>T | CA350341937 | BMPR2 | c.1243G>T (p.Glu415Ter) c.1174G>T (p.Glu392Ter) | ClinVar dbSNP |
2 | g.202532701_202532702dup | CA645293825 | BMPR2 | c.1245_1246dup (p.Ile416ArgfsTer4) c.1176_1177dup (p.Ile393ArgfsTer4) | ClinVar dbSNP |
2 | g.202532700A>C | CA350341940 | BMPR2 | c.1244A>C (p.Glu415Ala) c.1175A>C (p.Glu392Ala) | |
2 | g.202532700A>G | CA350341941 | BMPR2 | c.1244A>G (p.Glu415Gly) c.1175A>G (p.Glu392Gly) | COSMIC |
2 | g.202532700A>T | CA350341942 | BMPR2 | c.1244A>T (p.Glu415Val) c.1175A>T (p.Glu392Val) | |
2 | g.202532701G>A | CA430849881 | BMPR2 | c.1245G>A (p.Glu415=) c.1176G>A (p.Glu392=) | dbSNP gnomAD v2 |
2 | g.202532701G>C | CA350341943 | BMPR2 | c.1245G>C (p.Glu415Asp) c.1176G>C (p.Glu392Asp) | |
2 | g.202532701G= | CA1321545690 | BMPR2 | c.1245G= (p.Glu415=) c.1176G= (p.Glu392=) | |
2 | g.202532701G>T | CA350341944 | BMPR2 | c.1245G>T (p.Glu415Asp) c.1176G>T (p.Glu392Asp) | |
2 | g.202532701dup | CA658761121 | BMPR2 | c.1245dup (p.Ile416AspfsTer?) c.1176dup (p.Ile393AspfsTer?) | |
2 | g.202532702A= | CA1321545691 | BMPR2 | c.1246A= (p.Ile416=) c.1177A= (p.Ile393=) | |
2 | g.202532702A>C | CA350341945 | BMPR2 | c.1246A>C (p.Ile416Leu) c.1177A>C (p.Ile393Leu) | |
2 | g.202532702A>G | CA350341946 | BMPR2 | c.1246A>G (p.Ile416Val) c.1177A>G (p.Ile393Val) | |
2 | g.202532702A>T | CA350341947 | BMPR2 | c.1246A>T (p.Ile416Leu) c.1177A>T (p.Ile393Leu) | |
2 | g.202532702dup | CA2586971103 | BMPR2 | c.1246dup (p.Ile416AsnfsTer?) c.1177dup (p.Ile393AsnfsTer?) | |
2 | g.202532704_202532705dup | CA2586971104 | BMPR2 | c.1248_1249dup (p.Phe417TyrfsTer3) c.1179_1180dup (p.Phe394TyrfsTer3) | |
2 | g.202532702_202532706delinsATATT | CA1321545692 | BMPR2 | c.1246_1250delinsATATT (p.Ile416=) c.1177_1181delinsATATT (p.Ile393=) | |
2 | g.202532702_202532703insG | CA645293826 | BMPR2 | c.1246_1247insG (p.Ile416SerfsTer?) c.1177_1178insG (p.Ile393SerfsTer?) | ClinVar dbSNP |
2 | g.202532703T>A | CA350341948 | BMPR2 | c.1247T>A (p.Ile416Lys) c.1178T>A (p.Ile393Lys) | |
2 | g.202532703T>C | CA350341949 | BMPR2 | c.1247T>C (p.Ile416Thr) c.1178T>C (p.Ile393Thr) | |
2 | g.202532703T>G | CA350341950 | BMPR2 | c.1247T>G (p.Ile416Arg) c.1178T>G (p.Ile393Arg) | |
2 | g.202532703_202532704delinsTA | CA1321545693 | BMPR2 | c.1247_1248delinsTA (p.Ile416=) c.1178_1179delinsTA (p.Ile393=) | |
2 | g.202532703_202532706delinsGA | CA645293828 | BMPR2 | c.1247_1250delinsGA (p.Ile416ArgfsTer31) c.1178_1181delinsGA (p.Ile393ArgfsTer31) | ClinVar dbSNP |
2 | g.202532706_202532709del | CA645293827 | BMPR2 | c.1250_1253del (p.Phe417Ter) c.1181_1184del (p.Phe394Ter) | ClinVar dbSNP |
2 | g.202532703_202532704insGA | CA658761122 | BMPR2 | c.1247_1248insGA (p.Ile416MetfsTer4) c.1178_1179insGA (p.Ile393MetfsTer4) | |
2 | g.202532704del | CA645293829 | BMPR2 | c.1248del (p.Phe417LeufsTer2) c.1179del (p.Phe394LeufsTer2) | ClinVar dbSNP |
2 | g.202532704A>C | CA430849891 | BMPR2 | c.1248A>C (p.Ile416=) c.1179A>C (p.Ile393=) | |
2 | g.202532704A>G | CA350341951 | BMPR2 | c.1248A>G (p.Ile416Met) c.1179A>G (p.Ile393Met) | |
2 | g.202532704A>T | CA430849895 | BMPR2 | c.1248A>T (p.Ile416=) c.1179A>T (p.Ile393=) | |
2 | g.202532705T>A | CA350341953 | BMPR2 | c.1249T>A (p.Phe417Ile) c.1180T>A (p.Phe394Ile) | |
2 | g.202532705T>C | CA350341954 | BMPR2 | c.1249T>C (p.Phe417Leu) c.1180T>C (p.Phe394Leu) | gnomAD v4 |
2 | g.202532705T>G | CA350341952 | BMPR2 | c.1249T>G (p.Phe417Val) c.1180T>G (p.Phe394Val) | |
2 | g.202532706T>A | CA350341955 | BMPR2 | c.1250T>A (p.Phe417Tyr) c.1181T>A (p.Phe394Tyr) | |
2 | g.202532706T>C | CA350341956 | BMPR2 | c.1250T>C (p.Phe417Ser) c.1181T>C (p.Phe394Ser) | |
2 | g.202532706T>G | CA350341957 | BMPR2 | c.1250T>G (p.Phe417Cys) c.1181T>G (p.Phe394Cys) | ClinVar |
2 | g.202532707T>A | CA350341958 | BMPR2 | c.1251T>A (p.Phe417Leu) c.1182T>A (p.Phe394Leu) | |
2 | g.202532707T>C | CA430849914 | BMPR2 | c.1251T>C (p.Phe417=) c.1182T>C (p.Phe394=) | |
2 | g.202532707T>G | CA350341959 | BMPR2 | c.1251T>G (p.Phe417Leu) c.1182T>G (p.Phe394Leu) | |
2 | g.202532708_202532709del | CA645532634 | BMPR2 | c.1252_1253del (p.Met418GlufsTer29) c.1183_1184del (p.Met395GlufsTer29) | COSMIC |
2 | g.202532708A>C | CA350341962 | BMPR2 | c.1252A>C (p.Met418Leu) c.1183A>C (p.Met395Leu) | |
2 | g.202532708A>G | CA350341960 | BMPR2 | c.1252A>G (p.Met418Val) c.1183A>G (p.Met395Val) | |
2 | g.202532708A>T | CA350341961 | BMPR2 | c.1252A>T (p.Met418Leu) c.1183A>T (p.Met395Leu) | |
2 | g.202532709T>A | CA350341963 | BMPR2 | c.1253T>A (p.Met418Lys) c.1184T>A (p.Met395Lys) | |
2 | g.202532709T>C | CA350341964 | BMPR2 | c.1253T>C (p.Met418Thr) c.1184T>C (p.Met395Thr) | |
2 | g.202532709T>G | CA350341965 | BMPR2 | c.1253T>G (p.Met418Arg) c.1184T>G (p.Met395Arg) | gnomAD v4 |
2 | g.202532710G>A | CA350341966 | BMPR2 | c.1254G>A (p.Met418Ile) c.1185G>A (p.Met395Ile) | |
2 | g.202532710G>C | CA350341967 | BMPR2 | c.1254G>C (p.Met418Ile) c.1185G>C (p.Met395Ile) | |
2 | g.202532710G= | CA1321545694 | BMPR2 | c.1254G= (p.Met418=) c.1185G= (p.Met395=) | |
2 | g.202532710G>T | CA350341968 | BMPR2 | c.1254G>T (p.Met418Ile) c.1185G>T (p.Met395Ile) | |
2 | g.202532711A>C | CA430849929 | BMPR2 | c.1255A>C (p.Arg419=) c.1186A>C (p.Arg396=) | |
2 | g.202532711A>G | CA350341970 | BMPR2 | c.1255A>G (p.Arg419Gly) c.1186A>G (p.Arg396Gly) | |
2 | g.202532711A>T | CA350341969 | BMPR2 | c.1255A>T (p.Arg419Ter) c.1186A>T (p.Arg396Ter) | |
2 | g.202532711_202532713dup | CA915941651 | BMPR2 | c.1255_1257dup (p.Arg419_Cys420insArg) c.1186_1188dup (p.Arg396_Cys397insArg) | ClinVar dbSNP |
2 | g.202532712G>A | CA350341971 | BMPR2 | c.1256G>A (p.Arg419Lys) c.1187G>A (p.Arg396Lys) | |
2 | g.202532712G>C | CA350341973 | BMPR2 | c.1256G>C (p.Arg419Thr) c.1187G>C (p.Arg396Thr) | gnomAD v4 |
2 | g.202532712G>T | CA350341972 | BMPR2 | c.1256G>T (p.Arg419Ile) c.1187G>T (p.Arg396Ile) | |
2 | g.202532713A= | CA1321545695 | BMPR2 | c.1257A= (p.Arg419=) c.1188A= (p.Arg396=) | |
2 | g.202532713A>C | CA350341974 | BMPR2 | c.1257A>C (p.Arg419Ser) c.1188A>C (p.Arg396Ser) | |
2 | g.202532713A>G | CA430849936 | BMPR2 | c.1257A>G (p.Arg419=) c.1188A>G (p.Arg396=) | |
2 | g.202532713A>T | CA350341975 | BMPR2 | c.1257A>T (p.Arg419Ser) c.1188A>T (p.Arg396Ser) | ClinVar dbSNP gnomAD v4 |
2 | g.202532714T>A | CA350341976 | BMPR2 | c.1258T>A (p.Cys420Ser) c.1189T>A (p.Cys397Ser) | |
2 | g.202532714T>C | CA350341977 | BMPR2 | c.1258T>C (p.Cys420Arg) c.1189T>C (p.Cys397Arg) | ClinVar dbSNP |
2 | g.202532714T>G | CA350341978 | BMPR2 | c.1258T>G (p.Cys420Gly) c.1189T>G (p.Cys397Gly) | |
2 | g.202532714T= | CA1321545696 | BMPR2 | c.1258T= (p.Cys420=) c.1189T= (p.Cys397=) | |
2 | g.202532715G>A | CA350341979 | BMPR2 | c.1259G>A (p.Cys420Tyr) c.1190G>A (p.Cys397Tyr) | ClinVar dbSNP |
2 | g.202532715G>C | CA350341980 | BMPR2 | c.1259G>C (p.Cys420Ser) c.1190G>C (p.Cys397Ser) | |
2 | g.202532715G= | CA1321545697 | BMPR2 | c.1259G= (p.Cys420=) c.1190G= (p.Cys397=) | |
2 | g.202532715G>T | CA350341981 | BMPR2 | c.1259G>T (p.Cys420Phe) c.1190G>T (p.Cys397Phe) | |
2 | g.202532716T>A | CA350341982 | BMPR2 | c.1260T>A (p.Cys420Ter) c.1191T>A (p.Cys397Ter) | |
2 | g.202532716T>C | CA430849963 | BMPR2 | c.1260T>C (p.Cys420=) c.1191T>C (p.Cys397=) | |
2 | g.202532716T>G | CA350341983 | BMPR2 | c.1260T>G (p.Cys420Trp) c.1191T>G (p.Cys397Trp) | |
2 | g.202532717A>C | CA350341984 | BMPR2 | c.1261A>C (p.Thr421Pro) c.1192A>C (p.Thr398Pro) | |
2 | g.202532717A>G | CA350341985 | BMPR2 | c.1261A>G (p.Thr421Ala) c.1192A>G (p.Thr398Ala) | gnomAD v4 |
2 | g.202532717A>T | CA350341986 | BMPR2 | c.1261A>T (p.Thr421Ser) c.1192A>T (p.Thr398Ser) | |
2 | g.202532718C>A | CA350341989 | BMPR2 | c.1262C>A (p.Thr421Lys) c.1193C>A (p.Thr398Lys) | |
2 | g.202532718C>G | CA350341987 | BMPR2 | c.1262C>G (p.Thr421Arg) c.1193C>G (p.Thr398Arg) | |
2 | g.202532718C>T | CA350341988 | BMPR2 | c.1262C>T (p.Thr421Ile) c.1193C>T (p.Thr398Ile) | |
2 | g.202532719A= | CA1321545698 | BMPR2 | c.1263A= (p.Thr421=) c.1194A= (p.Thr398=) | |
2 | g.202532719A>C | CA430849976 | BMPR2 | c.1263A>C (p.Thr421=) c.1194A>C (p.Thr398=) | |
2 | g.202532719A>G | CA64029570 | BMPR2 | c.1263A>G (p.Thr421=) c.1194A>G (p.Thr398=) | dbSNP gnomAD v4 |
2 | g.202532719A>T | CA430849977 | BMPR2 | c.1263A>T (p.Thr421=) c.1194A>T (p.Thr398=) | |
2 | g.202532720G>A | CA350341990 | BMPR2 | c.1264G>A (p.Asp422Asn) c.1195G>A (p.Asp399Asn) | |
2 | g.202532720G>C | CA350341991 | BMPR2 | c.1264G>C (p.Asp422His) c.1195G>C (p.Asp399His) | |
2 | g.202532720G>T | CA350341992 | BMPR2 | c.1264G>T (p.Asp422Tyr) c.1195G>T (p.Asp399Tyr) | |
2 | g.202532721A= | CA1321545699 | BMPR2 | c.1265A= (p.Asp422=) c.1196A= (p.Asp399=) | |
2 | g.202532721A>C | CA350341993 | BMPR2 | c.1265A>C (p.Asp422Ala) c.1196A>C (p.Asp399Ala) | |
2 | g.202532721A>G | CA2061321 | BMPR2 | c.1265A>G (p.Asp422Gly) c.1196A>G (p.Asp399Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.202532721A>T | CA350341994 | BMPR2 | c.1265A>T (p.Asp422Val) c.1196A>T (p.Asp399Val) | |
2 | g.202532722C>A | CA350341995 | BMPR2 | c.1266C>A (p.Asp422Glu) c.1197C>A (p.Asp399Glu) | |
2 | g.202532722C>G | CA350341996 | BMPR2 | c.1266C>G (p.Asp422Glu) c.1197C>G (p.Asp399Glu) | gnomAD v4 |
2 | g.202532722C>T | CA430849999 | BMPR2 | c.1266C>T (p.Asp422=) c.1197C>T (p.Asp399=) | |
2 | g.202532723C>A | CA350341997 | BMPR2 | c.1267C>A (p.Leu423Ile) c.1198C>A (p.Leu400Ile) | |
2 | g.202532723C= | CA1321545700 | BMPR2 | c.1267C= (p.Leu423=) c.1198C= (p.Leu400=) | |
2 | g.202532723C>G | CA350341998 | BMPR2 | c.1267C>G (p.Leu423Val) c.1198C>G (p.Leu400Val) | |
2 | g.202532723C>T | CA350341999 | BMPR2 | c.1267C>T (p.Leu423Phe) c.1198C>T (p.Leu400Phe) | gnomAD v4 |
2 | g.202532724T>A | CA350342001 | BMPR2 | c.1268T>A (p.Leu423His) c.1199T>A (p.Leu400His) | gnomAD v4 |
2 | g.202532724T>C | CA350342002 | BMPR2 | c.1268T>C (p.Leu423Pro) c.1199T>C (p.Leu400Pro) | |
2 | g.202532724T>G | CA350342000 | BMPR2 | c.1268T>G (p.Leu423Arg) c.1199T>G (p.Leu400Arg) | |
2 | g.202532724dup | CA645293830 | BMPR2 | c.1268dup (p.Phe424LeufsTer24) c.1199dup (p.Phe401LeufsTer24) | ClinVar dbSNP |
2 | g.202532724_202532731delinsTCTTCCCA | CA1321545701 | BMPR2 | c.1268_1275delinsTCTTCCCA (p.Leu423=) c.1199_1206delinsTCTTCCCA (p.Leu400=) | |
2 | g.202532725C>A | CA430850008 | BMPR2 | c.1269C>A (p.Leu423=) c.1200C>A (p.Leu400=) | |
2 | g.202532725C= | CA1321545702 | BMPR2 | c.1269C= (p.Leu423=) c.1200C= (p.Leu400=) | |
2 | g.202532725C>G | CA430850010 | BMPR2 | c.1269C>G (p.Leu423=) c.1200C>G (p.Leu400=) | |
2 | g.202532725C>T | CA2061323 | BMPR2 | c.1269C>T (p.Leu423=) c.1200C>T (p.Leu400=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.202532725_202532731del | CA2061322 | BMPR2 | c.1269_1275del (p.Phe424GlyfsTer?) c.1200_1206del (p.Phe401GlyfsTer?) | dbSNP ExAC gnomAD v2 |
2 | g.202532726T>A | CA350342003 | BMPR2 | c.1270T>A (p.Phe424Ile) c.1201T>A (p.Phe401Ile) | |
2 | g.202532726T>C | CA350342004 | BMPR2 | c.1270T>C (p.Phe424Leu) c.1201T>C (p.Phe401Leu) | gnomAD v4 |
2 | g.202532726T>G | CA350342005 | BMPR2 | c.1270T>G (p.Phe424Val) c.1201T>G (p.Phe401Val) | |
2 | g.202532727T>A | CA350342006 | BMPR2 | c.1271T>A (p.Phe424Tyr) c.1202T>A (p.Phe401Tyr) | |
2 | g.202532727T>C | CA350342007 | BMPR2 | c.1271T>C (p.Phe424Ser) c.1202T>C (p.Phe401Ser) | |
2 | g.202532727T>G | CA350342008 | BMPR2 | c.1271T>G (p.Phe424Cys) c.1202T>G (p.Phe401Cys) | |
2 | g.202532727T= | CA1321545703 | BMPR2 | c.1271T= (p.Phe424=) c.1202T= (p.Phe401=) | |
2 | g.202532727_202532732delinsCGGAGA | CA645293831 | BMPR2 | c.1271_1276delinsCGGAGA (p.Phe424_Gly426delinsSerGluArg) c.1202_1207delinsCGGAGA (p.Phe401_Gly403delinsSerGluArg) | ClinVar dbSNP |
2 | g.202532727_202532732delinsTCCCAG | CA1321545704 | BMPR2 | c.1271_1276delinsTCCCAG (p.Phe424=) c.1202_1207delinsTCCCAG (p.Phe401=) | |
2 | g.202532727_202542311delinsAGA | CA658822347 | BMPR2 | c.1271_1277delinsAGA c.1202_1208delinsAGA | ClinVar |
2 | g.202532728C>A | CA350342009 | BMPR2 | c.1272C>A (p.Phe424Leu) c.1203C>A (p.Phe401Leu) | |
2 | g.202532728C= | CA1321545705 | BMPR2 | c.1272C= (p.Phe424=) c.1203C= (p.Phe401=) | |
2 | g.202532728C>G | CA350342010 | BMPR2 | c.1272C>G (p.Phe424Leu) c.1203C>G (p.Phe401Leu) | gnomAD v4 |
2 | g.202532728C>T | CA430850024 | BMPR2 | c.1272C>T (p.Phe424=) c.1203C>T (p.Phe401=) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
2 | g.202532730dup | CA645293832 | BMPR2 | c.1274dup (p.Gly426ArgfsTer22) c.1205dup (p.Gly403ArgfsTer22) | ClinVar dbSNP |
2 | g.202532729C>A | CA350342011 | BMPR2 | c.1273C>A (p.Pro425Thr) c.1204C>A (p.Pro402Thr) | |
2 | g.202532729C= | CA1321545706 | BMPR2 | c.1273C= (p.Pro425=) c.1204C= (p.Pro402=) | |
2 | g.202532729C>G | CA350342012 | BMPR2 | c.1273C>G (p.Pro425Ala) c.1204C>G (p.Pro402Ala) | |
2 | g.202532729C>T | CA2061324 | BMPR2 | c.1273C>T (p.Pro425Ser) c.1204C>T (p.Pro402Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.202532730C>A | CA350342015 | BMPR2 | c.1274C>A (p.Pro425Gln) c.1205C>A (p.Pro402Gln) | |
2 | g.202532730C>G | CA350342014 | BMPR2 | c.1274C>G (p.Pro425Arg) c.1205C>G (p.Pro402Arg) | |
2 | g.202532730C>T | CA350342013 | BMPR2 | c.1274C>T (p.Pro425Leu) c.1205C>T (p.Pro402Leu) | |
2 | g.202532731A= | CA1321545707 | BMPR2 | c.1275A= (p.Pro425=) c.1206A= (p.Pro402=) | |
2 | g.202532731A>C | CA430850034 | BMPR2 | c.1275A>C (p.Pro425=) c.1206A>C (p.Pro402=) | |
2 | g.202532731A>G | CA430850035 | BMPR2 | c.1275A>G (p.Pro425=) c.1206A>G (p.Pro402=) | dbSNP |
2 | g.202532731A>T | CA430850037 | BMPR2 | c.1275A>T (p.Pro425=) c.1206A>T (p.Pro402=) | |
2 | g.202532732G>A | CA350342016 | BMPR2 | c.1276G>A (p.Gly426Arg) c.1207G>A (p.Gly403Arg) | ClinVar dbSNP |
2 | g.202532732G>C | CA351929 | BMPR2 | c.1276G>C (p.Gly426Arg) c.1207G>C (p.Gly403Arg) | ClinVar dbSNP |
2 | g.202532732G= | CA1321545708 | BMPR2 | c.1276G= (p.Gly426=) c.1207G= (p.Gly403=) | |
2 | g.202532732G>T | CA350342017 | BMPR2 | c.1276G>T (p.Gly426Trp) c.1207G>T (p.Gly403Trp) | gnomAD v4 |
2 | g.202532733G>A | CA2061325 | BMPR2 | c.1276+1G>A (n.1276+1G>A) c.1207+1G>A (n.1207+1G>A) | ClinVar dbSNP ExAC gnomAD v2 |
2 | g.202532733G>C | CA350342018 | BMPR2 | c.1276+1G>C (n.1276+1G>C) c.1207+1G>C (n.1207+1G>C) | dbSNP |
2 | g.202532733G= | CA1321545709 | BMPR2 | c.1276+1G= (n.1276+1G=) c.1207+1G= (n.1207+1G=) | |
2 | g.202532733G>T | CA350342019 | BMPR2 | c.1276+1G>T (n.1276+1G>T) c.1207+1G>T (n.1207+1G>T) | |
2 | g.202532734T>A | CA350342020 | BMPR2 | c.1276+2T>A (n.1276+2T>A) c.1207+2T>A (n.1207+2T>A) | |
2 | g.202532734T>C | CA350342021 | BMPR2 | c.1276+2T>C (n.1276+2T>C) c.1207+2T>C (n.1207+2T>C) | |
2 | g.202532734T>G | CA350342022 | BMPR2 | c.1276+2T>G (n.1276+2T>G) c.1207+2T>G (n.1207+2T>G) | |
2 | g.202532735A= | CA1321545710 | BMPR2 | c.1276+3A= (n.1276+3A=) c.1207+3A= (n.1207+3A=) | |
2 | g.202532735A>G | CA645293833 | BMPR2 | c.1276+3A>G (n.1276+3A>G) c.1207+3A>G (n.1207+3A>G) | ClinVar dbSNP |
2 | g.202532735A>T | CA645293834 | BMPR2 | c.1276+3A>T (n.1276+3A>T) c.1207+3A>T (n.1207+3A>T) | ClinVar dbSNP |
2 | g.202532739del | CA2662706315 | BMPR2 | c.1276+7del (n.1276+7del) c.1207+7del (n.1207+7del) | gnomAD v4 |
2 | g.202532736A= | CA1321545711 | BMPR2 | c.1276+4A= (n.1276+4A=) c.1207+4A= (n.1207+4A=) | |
2 | g.202532736A>G | CA645293835 | BMPR2 | c.1276+4A>G (n.1276+4A>G) c.1207+4A>G (n.1207+4A>G) | ClinVar dbSNP |
2 | g.202532737_202532740delinsAAAC | CA1321545712 | BMPR2 | c.1276+5_1276+8delinsAAAC (n.1276+5_1276+8delinsAAAC) c.1207+5_1207+8delinsAAAC (n.1207+5_1207+8delinsAAAC) | |
2 | g.202532738_202532740del | CA538975638 | BMPR2 | c.1276+6_1276+8del (n.1276+6_1276+8del) c.1207+6_1207+8del (n.1207+6_1207+8del) | dbSNP gnomAD v2 |
2 | g.202532742_202532744del | CA2577215674 | BMPR2 | c.1276+10_1276+12del (n.1276+10_1276+12del) c.1207+10_1207+12del (n.1207+10_1207+12del) | |
2 | g.202532740C>T | CA2662706316 | BMPR2 | c.1276+8C>T (n.1276+8C>T) c.1207+8C>T (n.1207+8C>T) | gnomAD v4 |
2 | g.202532741_202532743delinsTAC | CA1321545713 | BMPR2 | c.1276+9_1276+11delinsTAC (n.1276+9_1276+11delinsTAC) c.1207+9_1207+11delinsTAC (n.1207+9_1207+11delinsTAC) | |
2 | g.202532742A= | CA1321545715 | BMPR2 | c.1276+10A= (n.1276+10A=) c.1207+10A= (n.1207+10A=) | |
2 | g.202532742A>G | CA1321545714 | BMPR2 | c.1276+10A>G (n.1276+10A>G) c.1207+10A>G (n.1207+10A>G) | ClinVar dbSNP gnomAD v4 |
2 | g.202532742_202532743del | CA538975703 | BMPR2 | c.1276+10_1276+11del (n.1276+10_1276+11del) c.1207+10_1207+11del (n.1207+10_1207+11del) | dbSNP gnomAD v2 |
2 | g.202532743C>A | CA2662706318 | BMPR2 | c.1276+11C>A (n.1276+11C>A) c.1207+11C>A (n.1207+11C>A) | gnomAD v4 |
2 | g.202532743C>T | CA2662706319 | BMPR2 | c.1276+11C>T (n.1276+11C>T) c.1207+11C>T (n.1207+11C>T) | gnomAD v4 |
2 | g.202532744T>C | CA2662706320 | BMPR2 | c.1276+12T>C (n.1276+12T>C) c.1207+12T>C (n.1207+12T>C) | gnomAD v4 |
2 | g.202532744T>G | CA2061326 | BMPR2 | c.1276+12T>G (n.1276+12T>G) c.1207+12T>G (n.1207+12T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.202532744T= | CA1321545716 | BMPR2 | c.1276+12T= (n.1276+12T=) c.1207+12T= (n.1207+12T=) | |
2 | g.202532745G>A | CA64029584 | BMPR2 | c.1276+13G>A (n.1276+13G>A) c.1207+13G>A (n.1207+13G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202532745G>C | CA2662706321 | BMPR2 | c.1276+13G>C (n.1276+13G>C) c.1207+13G>C (n.1207+13G>C) | gnomAD v4 |
2 | g.202532745G= | CA1321545717 | BMPR2 | c.1276+13G= (n.1276+13G=) c.1207+13G= (n.1207+13G=) | |
2 | g.202532745G>T | CA2753906016 | BMPR2 | c.1276+13G>T (n.1276+13G>T) c.1207+13G>T (n.1207+13G>T) | |
2 | g.202532745_202532748del | CA538975705 | BMPR2 | c.1276+13_1276+16del (n.1276+13_1276+16del) c.1207+13_1207+16del (n.1207+13_1207+16del) | gnomAD v2 |
2 | g.202532746T>A | CA2662706322 | BMPR2 | c.1276+14T>A (n.1276+14T>A) c.1207+14T>A (n.1207+14T>A) | gnomAD v4 |
2 | g.202532746T>G | CA64029588 | BMPR2 | c.1276+14T>G (n.1276+14T>G) c.1207+14T>G (n.1207+14T>G) | ClinVar dbSNP gnomAD v4 |
2 | g.202532746T= | CA1321545718 | BMPR2 | c.1276+14T= (n.1276+14T=) c.1207+14T= (n.1207+14T=) | |
2 | g.202532747C>A | CA2061327 | BMPR2 | c.1276+15C>A (n.1276+15C>A) c.1207+15C>A (n.1207+15C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.202532747C= | CA1321545719 | BMPR2 | c.1276+15C= (n.1276+15C=) c.1207+15C= (n.1207+15C=) | |
2 | g.202532747C>G | CA2061328 | BMPR2 | c.1276+15C>G (n.1276+15C>G) c.1207+15C>G (n.1207+15C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202532747C>T | CA538975708 | BMPR2 | c.1276+15C>T (n.1276+15C>T) c.1207+15C>T (n.1207+15C>T) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.202532748A= | CA1321545720 | BMPR2 | c.1276+16A= (n.1276+16A=) c.1207+16A= (n.1207+16A=) | |
2 | g.202532748A>C | CA2061329 | BMPR2 | c.1276+16A>C (n.1276+16A>C) c.1207+16A>C (n.1207+16A>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202532748A>T | CA538975711 | BMPR2 | c.1276+16A>T (n.1276+16A>T) c.1207+16A>T (n.1207+16A>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202532751del | CA2662706323 | BMPR2 | c.1276+19del (n.1276+19del) c.1207+19del (n.1207+19del) | gnomAD v4 |
2 | g.202532749A>G | CA2662706325 | BMPR2 | c.1276+17A>G (n.1276+17A>G) c.1207+17A>G (n.1207+17A>G) | gnomAD v4 |
2 | g.202532750A= | CA1321545721 | BMPR2 | c.1276+18A= (n.1276+18A=) c.1207+18A= (n.1207+18A=) | |
2 | g.202532750A>G | CA538975713 | BMPR2 | c.1276+18A>G (n.1276+18A>G) c.1207+18A>G (n.1207+18A>G) | dbSNP gnomAD v2 |
2 | g.202532752G>A | CA538975715 | BMPR2 | c.1276+20G>A (n.1276+20G>A) c.1207+20G>A (n.1207+20G>A) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.202532752G= | CA1321545722 | BMPR2 | c.1276+20G= (n.1276+20G=) c.1207+20G= (n.1207+20G=) | |
2 | g.202532752G>T | CA2662706326 | BMPR2 | c.1276+20G>T (n.1276+20G>T) c.1207+20G>T (n.1207+20G>T) | gnomAD v4 |
2 | g.202532753T>C | CA1321545724 | BMPR2 | c.1276+21T>C (n.1276+21T>C) c.1207+21T>C (n.1207+21T>C) | dbSNP |
2 | g.202532753T= | CA1321545723 | BMPR2 | c.1276+21T= (n.1276+21T=) c.1207+21T= (n.1207+21T=) | |
2 | g.202532754del | CA538975716 | BMPR2 | c.1276+22del (n.1276+22del) c.1207+22del (n.1207+22del) | gnomAD v2 |
2 | g.202532754T>A | CA763435086 | BMPR2 | c.1276+22T>A (n.1276+22T>A) c.1207+22T>A (n.1207+22T>A) | dbSNP |
2 | g.202532754T= | CA1321545725 | BMPR2 | c.1276+22T= (n.1276+22T=) c.1207+22T= (n.1207+22T=) | |
2 | g.202532755G>A | CA2662706327 | BMPR2 | c.1276+23G>A (n.1276+23G>A) c.1207+23G>A (n.1207+23G>A) | gnomAD v4 |
2 | g.202532755G>T | CA2662706328 | BMPR2 | c.1276+23G>T (n.1276+23G>T) c.1207+23G>T (n.1207+23G>T) | gnomAD v4 |
2 | g.202532756A= | CA1321545726 | BMPR2 | c.1276+24A= (n.1276+24A=) c.1207+24A= (n.1207+24A=) | |
2 | g.202532756A>C | CA2662706330 | BMPR2 | c.1276+24A>C (n.1276+24A>C) c.1207+24A>C (n.1207+24A>C) | gnomAD v4 |
2 | g.202532756A>G | CA64029593 | BMPR2 | c.1276+24A>G (n.1276+24A>G) c.1207+24A>G (n.1207+24A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202532757T>C | CA2061330 | BMPR2 | c.1276+25T>C (n.1276+25T>C) c.1207+25T>C (n.1207+25T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202532757T= | CA1321545727 | BMPR2 | c.1276+25T= (n.1276+25T=) c.1207+25T= (n.1207+25T=) | |
2 | g.202532759T>G | CA1041321306 | BMPR2 | c.1276+27T>G (n.1276+27T>G) c.1207+27T>G (n.1207+27T>G) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.202532759T= | CA1321545728 | BMPR2 | c.1276+27T= (n.1276+27T=) c.1207+27T= (n.1207+27T=) | |
2 | g.202532764del | CA2662706331 | BMPR2 | c.1276+32del (n.1276+32del) c.1207+32del (n.1207+32del) | gnomAD v4 |
2 | g.202532760T>A | CA2061331 | BMPR2 | c.1276+28T>A (n.1276+28T>A) c.1207+28T>A (n.1207+28T>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.202532760T= | CA1321545729 | BMPR2 | c.1276+28T= (n.1276+28T=) c.1207+28T= (n.1207+28T=) | |
2 | g.202532764T>A | CA2662706332 | BMPR2 | c.1276+32T>A (n.1276+32T>A) c.1207+32T>A (n.1207+32T>A) | gnomAD v4 |
2 | g.202532764T= | CA1321545730 | BMPR2 | c.1276+32T= (n.1276+32T=) c.1207+32T= (n.1207+32T=) | |
2 | g.202532764_202532765insA | CA538975720 | BMPR2 | c.1276+32_1276+33insA (n.1276+32_1276+33insA) c.1207+32_1207+33insA (n.1207+32_1207+33insA) | dbSNP gnomAD v2 |
2 | g.202532765G>T | CA2577215675 | BMPR2 | c.1276+33G>T (n.1276+33G>T) c.1207+33G>T (n.1207+33G>T) | gnomAD v4 |
2 | g.202532766A= | CA1321545731 | BMPR2 | c.1276+34A= (n.1276+34A=) c.1207+34A= (n.1207+34A=) | |
2 | g.202532766_202532767insG | CA538975721 | BMPR2 | c.1276+34_1276+35insG (n.1276+34_1276+35insG) c.1207+34_1207+35insG (n.1207+34_1207+35insG) | dbSNP gnomAD v2 |
2 | g.202532768G>A | CA2662706334 | BMPR2 | c.1276+36G>A (n.1276+36G>A) c.1207+36G>A (n.1207+36G>A) | gnomAD v4 |
2 | g.202532769T>A | CA538975722 | BMPR2 | c.1276+37T>A (n.1276+37T>A) c.1207+37T>A (n.1207+37T>A) | dbSNP gnomAD v2 |
2 | g.202532769T>C | CA2662706335 | BMPR2 | c.1276+37T>C (n.1276+37T>C) c.1207+37T>C (n.1207+37T>C) | gnomAD v4 |
2 | g.202532769T= | CA1321545732 | BMPR2 | c.1276+37T= (n.1276+37T=) c.1207+37T= (n.1207+37T=) | |
2 | g.202532770G>A | CA2662706336 | BMPR2 | c.1276+38G>A (n.1276+38G>A) c.1207+38G>A (n.1207+38G>A) | gnomAD v4 |
2 | g.202532771A= | CA1321545733 | BMPR2 | c.1276+39A= (n.1276+39A=) c.1207+39A= (n.1207+39A=) | |
2 | g.202532772_202532773insCGTA | CA538975723 | BMPR2 | c.1276+40_1276+41insCGTA (n.1276+40_1276+41insCGTA) c.1207+40_1207+41insCGTA (n.1207+40_1207+41insCGTA) | dbSNP gnomAD v2 |
2 | g.202532773G>A | CA763435092 | BMPR2 | c.1276+41G>A (n.1276+41G>A) c.1207+41G>A (n.1207+41G>A) | dbSNP |
2 | g.202532773G= | CA1321545734 | BMPR2 | c.1276+41G= (n.1276+41G=) c.1207+41G= (n.1207+41G=) | |
2 | g.202532774C>A | CA2662706337 | BMPR2 | c.1276+42C>A (n.1276+42C>A) c.1207+42C>A (n.1207+42C>A) | gnomAD v4 |
2 | g.202532774C>T | CA2662706338 | BMPR2 | c.1276+42C>T (n.1276+42C>T) c.1207+42C>T (n.1207+42C>T) | gnomAD v4 |
2 | g.202532775A= | CA1321545735 | BMPR2 | c.1276+43A= (n.1276+43A=) c.1207+43A= (n.1207+43A=) | |
2 | g.202532775A>G | CA538975724 | BMPR2 | c.1276+43A>G (n.1276+43A>G) c.1207+43A>G (n.1207+43A>G) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.202532776G>T | CA2662706339 | BMPR2 | c.1276+44G>T (n.1276+44G>T) c.1207+44G>T (n.1207+44G>T) | gnomAD v4 |
2 | g.202532778T>C | CA538975725 | BMPR2 | c.1276+46T>C (n.1276+46T>C) c.1207+46T>C (n.1207+46T>C) | dbSNP gnomAD v2 |
2 | g.202532778T= | CA1321545736 | BMPR2 | c.1276+46T= (n.1276+46T=) c.1207+46T= (n.1207+46T=) | |
2 | g.202532779A= | CA1321545737 | BMPR2 | c.1276+47A= (n.1276+47A=) c.1207+47A= (n.1207+47A=) | |
2 | g.202532779A>G | CA763435102 | BMPR2 | c.1276+47A>G (n.1276+47A>G) c.1207+47A>G (n.1207+47A>G) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.202532780T>C | CA2534294623 | BMPR2 | c.1276+48T>C (n.1276+48T>C) c.1207+48T>C (n.1207+48T>C) | gnomAD v4 |
2 | g.202532781A= | CA1321545738 | BMPR2 | c.1276+49A= (n.1276+49A=) c.1207+49A= (n.1207+49A=) | |
2 | g.202532781A>G | CA2061332 | BMPR2 | c.1276+49A>G (n.1276+49A>G) c.1207+49A>G (n.1207+49A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202532782T>G | CA538975727 | BMPR2 | c.1276+50T>G (n.1276+50T>G) c.1207+50T>G (n.1207+50T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202532782T= | CA1321545739 | BMPR2 | c.1276+50T= (n.1276+50T=) c.1207+50T= (n.1207+50T=) | |
2 | g.202532783C>A | CA2061333 | BMPR2 | c.1276+51C>A (n.1276+51C>A) c.1207+51C>A (n.1207+51C>A) | dbSNP ExAC gnomAD v4 |
2 | g.202532783C= | CA1321545740 | BMPR2 | c.1276+51C= (n.1276+51C=) c.1207+51C= (n.1207+51C=) | |
2 | g.202532784T>A | CA2061335 | BMPR2 | c.1276+52T>A (n.1276+52T>A) c.1207+52T>A (n.1207+52T>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.202532784T= | CA1321545741 | BMPR2 | c.1276+52T= (n.1276+52T=) c.1207+52T= (n.1207+52T=) | |
2 | g.202532784_202532785insAAA | CA2061334 | BMPR2 | c.1276+52_1276+53insAAA (n.1276+52_1276+53insAAA) c.1207+52_1207+53insAAA (n.1207+52_1207+53insAAA) | dbSNP ExAC |
2 | g.202532786C>A | CA2662706341 | BMPR2 | c.1276+54C>A (n.1276+54C>A) c.1207+54C>A (n.1207+54C>A) | gnomAD v4 |
2 | g.202532790C>A | CA2662706342 | BMPR2 | c.1276+58C>A (n.1276+58C>A) c.1207+58C>A (n.1207+58C>A) | gnomAD v4 |
2 | g.202532790C>T | CA2662706343 | BMPR2 | c.1276+58C>T (n.1276+58C>T) c.1207+58C>T (n.1207+58C>T) | gnomAD v4 |
2 | g.202532791T>C | CA538975731 | BMPR2 | c.1276+59T>C (n.1276+59T>C) c.1207+59T>C (n.1207+59T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202532791T= | CA1321545742 | BMPR2 | c.1276+59T= (n.1276+59T=) c.1207+59T= (n.1207+59T=) | |
2 | g.202532792del | CA2662706344 | BMPR2 | c.1276+60del (n.1276+60del) c.1207+60del (n.1207+60del) | gnomAD v4 |
2 | g.202532792C>A | CA2662706345 | BMPR2 | c.1276+60C>A (n.1276+60C>A) c.1207+60C>A (n.1207+60C>A) | gnomAD v4 |
2 | g.202532792C>G | CA2577215676 | BMPR2 | c.1276+60C>G (n.1276+60C>G) c.1207+60C>G (n.1207+60C>G) | gnomAD v4 |
2 | g.202532793T>C | CA64029628 | BMPR2 | c.1276+61T>C (n.1276+61T>C) c.1207+61T>C (n.1207+61T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202532793T>G | CA2577215677 | BMPR2 | c.1276+61T>G (n.1276+61T>G) c.1207+61T>G (n.1207+61T>G) | gnomAD v4 |
2 | g.202532793T= | CA1321545743 | BMPR2 | c.1276+61T= (n.1276+61T=) c.1207+61T= (n.1207+61T=) | |
2 | g.202532794A>G | CA2662706346 | BMPR2 | c.1276+62A>G (n.1276+62A>G) c.1207+62A>G (n.1207+62A>G) | gnomAD v4 |
2 | g.202532794_202532795delinsAC | CA1321545744 | BMPR2 | c.1276+62_1276+63delinsAC (n.1276+62_1276+63delinsAC) c.1207+62_1207+63delinsAC (n.1207+62_1207+63delinsAC) |