NM_001204.7(BMPR2):c.1042G>A (p.Val348Ile)
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rs201067849
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0.00020
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NM_001204.7(BMPR2):c.2618G>A (p.Arg873Gln)
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rs201781338
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0.00007
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NM_001204.7(BMPR2):c.2708A>G (p.Asn903Ser)
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rs373725296
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0.00003
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NM_001204.7(BMPR2):c.1481C>T (p.Ala494Val)
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rs2229778
|
0.00001
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NM_001204.7(BMPR2):c.1585C>T (p.Arg529Cys)
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rs140049204
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0.00001
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NM_001204.7(BMPR2):c.1771C>T (p.Arg591Ter)
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rs777458559
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0.00001
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NM_001204.7(BMPR2):c.853-2A>G
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rs863223424
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0.00001
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NC_000002.12:g.(?_202530784)_(202532742_?)del
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NC_000002.12:g.202358678_202383339del
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NC_000002.12:g.202361678_202391198del
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NC_000002.12:g.202373992_202392940del
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NC_000002.12:g.202474607_202528266del
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NC_000002.12:g.202477526_202557335del
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NC_000002.12:g.202522316_202580009del
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NC_000002.12:g.202522780_202538692del
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NC_000002.12:g.202538406_202550365del
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NM_001204.6(BMPR2):c.248-329_418+6029del
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NM_001204.7(BMPR2):c.1129-2A>T
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NM_001204.7(BMPR2):c.1133G>T (p.Gly378Val)
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rs1574494547
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NM_001204.7(BMPR2):c.1178A>G (p.Asn393Ser)
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rs1574494582
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NM_001204.7(BMPR2):c.1202T>C (p.Leu401Ser)
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rs1085307312
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NM_001204.7(BMPR2):c.1217T>G (p.Met406Arg)
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rs1247070046
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NM_001204.7(BMPR2):c.1241G>A (p.Trp414Ter)
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rs1085307317
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NM_001204.7(BMPR2):c.1255_1257dup (p.Arg419dup)
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rs1574494655
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NM_001204.7(BMPR2):c.1271_1277delinsAGA (p.Phe424_Gly426delinsTer)
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NM_001204.7(BMPR2):c.1276+1G>A
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rs767070218
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NM_001204.7(BMPR2):c.1276G>C (p.Gly426Arg)
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rs869025367
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NM_001204.7(BMPR2):c.1277-2A>G
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rs1574499954
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NM_001204.7(BMPR2):c.1285_1286insGATTG (p.Val429fs)
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NM_001204.7(BMPR2):c.12del (p.Leu5fs)
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rs1690174710
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NM_001204.7(BMPR2):c.1413+4638_1586+1016del
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NM_001204.7(BMPR2):c.1429A>G (p.Lys477Glu)
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NM_001204.7(BMPR2):c.1459G>T (p.Asp487Tyr)
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rs863223421
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NM_001204.7(BMPR2):c.1461T>G (p.Asp487Glu)
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rs2106042103
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NM_001204.7(BMPR2):c.1487G>A (p.Cys496Tyr)
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rs1085307362
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NM_001204.7(BMPR2):c.1488T>G (p.Cys496Trp)
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rs2106042155
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NM_001204.7(BMPR2):c.1490_1507del (p.Ala497_Ala502del)
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rs1574505321
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NM_001204.7(BMPR2):c.156_157del (p.Ser52_His53insTer)
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rs1085307169
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NM_001204.7(BMPR2):c.1772G>A (p.Arg591Gln)
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rs371174955
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NM_001204.7(BMPR2):c.2004del (p.Asp669fs)
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rs1574506781
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NM_001204.7(BMPR2):c.2094del (p.Pro698_Leu699insTer)
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rs2105711729
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NM_001204.7(BMPR2):c.2336C>G (p.Ser779Ter)
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NM_001204.7(BMPR2):c.2454_2455del (p.His819fs)
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rs2105712267
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NM_001204.7(BMPR2):c.247+136_418+99del
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NM_001204.7(BMPR2):c.247+804_418+3005del
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NM_001204.7(BMPR2):c.248-2A>G
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rs1085307193
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NM_001204.7(BMPR2):c.2542C>T (p.Gln848Ter)
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rs1574507272
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NM_001204.7(BMPR2):c.2617C>T (p.Arg873Ter)
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rs137852748
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NM_001204.7(BMPR2):c.2797A>T (p.Arg933Ter)
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rs766741057
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NM_001204.7(BMPR2):c.353G>A (p.Cys118Tyr)
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rs1085307216
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NM_001204.7(BMPR2):c.377A>G (p.Asn126Ser)
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rs863223426
|
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NM_001204.7(BMPR2):c.417_418+2del
|
rs1574464226
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NM_001204.7(BMPR2):c.418+1G>T
|
rs1085307226
|
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NM_001204.7(BMPR2):c.418+5G>A
|
rs1085307229
|
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NM_001204.7(BMPR2):c.419-1G>T
|
rs2106002050
|
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NM_001204.7(BMPR2):c.419-5439_622-1285del
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NM_001204.7(BMPR2):c.529+1G>A
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rs1553508187
|
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NM_001204.7(BMPR2):c.529+2dup
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rs1574486038
|
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NM_001204.7(BMPR2):c.617T>A (p.Leu206Ter)
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rs2106003241
|
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NM_001204.7(BMPR2):c.621+1G>C
|
rs1553508321
|
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NM_001204.7(BMPR2):c.621+1G>T
|
rs1553508321
|
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NM_001204.7(BMPR2):c.621+428_967+3995del
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NM_001204.7(BMPR2):c.622-1G>T
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rs1574488277
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NM_001204.7(BMPR2):c.76+1G>A
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rs1085307155
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NM_001204.7(BMPR2):c.76+2T>G
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rs1085307156
|
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NM_001204.7(BMPR2):c.76+5G>A
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rs1085307157
|
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NM_001204.7(BMPR2):c.77-1_77delinsAA
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rs2105959576
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NM_001204.7(BMPR2):c.77-2315_248-646del
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NM_001204.7(BMPR2):c.852+316_967+2958del
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NM_001204.7(BMPR2):c.853-1G>A
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rs1085307267
|
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NM_001204.7(BMPR2):c.901T>C (p.Ser301Pro)
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rs876657748
|
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NM_001204.7(BMPR2):c.917A>C (p.His306Pro)
|
rs1574489046
|
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Single allele
|
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