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_016204.4(GDF2):c.76C>T (p.Gln26Ter)
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rs1555208696
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0.00003
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NM_000020.3(ACVRL1):c.1450C>T (p.Arg484Trp)
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rs121909288
|
0.00001
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NM_001204.7(BMPR2):c.853-2A>G
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rs863223424
|
0.00001
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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_000020.3(ACVRL1):c.1450C>G (p.Arg484Gly)
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rs121909288
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NM_000020.3(ACVRL1):c.1451G>A (p.Arg484Gln)
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rs863223408
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NM_000020.3(ACVRL1):c.1451G>T (p.Arg484Leu)
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rs863223408
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NM_000020.3(ACVRL1):c.647T>G (p.Val216Gly)
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rs1592223392
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NM_000020.3(ACVRL1):c.982C>G (p.His328Asp)
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rs1592224291
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NM_001013703.4(EIF2AK4):c.4769del (p.Ser1589_Leu1590insTer)
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rs756315327
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NM_001114753.3(ENG):c.1727_1732del (p.Ser576_Asp578delinsAsn)
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rs1588573831
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NM_001114753.3(ENG):c.1734C>G (p.Asp578Glu)
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rs374644720
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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.1255_1257dup (p.Arg419dup)
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rs1574494655
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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.1277-305_1414-4736del
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NM_001204.7(BMPR2):c.1277-421_1414-2475del
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NM_001204.7(BMPR2):c.1413+4638_1586+1016del
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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.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.2336C>G (p.Ser779Ter)
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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.2542C>T (p.Gln848Ter)
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rs1574507272
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NM_001204.7(BMPR2):c.417_418+2del
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rs1574464226
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NM_001204.7(BMPR2):c.418+1G>T
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rs1085307226
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NM_001204.7(BMPR2):c.418+5G>A
|
rs1085307229
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NM_001204.7(BMPR2):c.419-5439_622-1285del
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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
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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
|
rs1085307156
|
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NM_001204.7(BMPR2):c.76+5G>A
|
rs1085307157
|
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NM_001204.7(BMPR2):c.77-2315_248-646del
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|
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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
|
rs1085307267
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NM_001204.7(BMPR2):c.917A>C (p.His306Pro)
|
rs1574489046
|
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NM_001321120.2(TBX4):c.1001_1004dup (p.His335fs)
|
rs1603255336
|
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NM_001321120.2(TBX4):c.1011_1012delinsTT (p.Lys338Ter)
|
rs1603255339
|
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NM_001321120.2(TBX4):c.1115dup (p.Pro373fs)
|
rs754897911
|
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NM_001321120.2(TBX4):c.1163_1170del (p.Thr388fs)
|
rs1603256095
|
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NM_001321120.2(TBX4):c.121G>T (p.Gly41Ter)
|
rs1397811125
|
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NM_001321120.2(TBX4):c.40_49del (p.Phe14fs)
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rs1603248167
|
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NM_001321120.2(TBX4):c.885dup (p.Thr296fs)
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rs1603255267
|
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NM_001321120.2(TBX4):c.972del (p.Thr326fs)
|
rs1603255327
|
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NM_001367549.1(ATP13A3):c.2227C>T (p.Arg743Cys)
|
rs2108829926
|
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NM_001367549.1(ATP13A3):c.2563G>A (p.Val855Met)
|
rs1489314131
|
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NM_002246.3(KCNK3):c.544G>C (p.Glu182Gln)
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rs398123042
|
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Single allele
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