NM_000557.5(GDF5):c.1322T>C (p.Leu441Pro)
|
rs28936683
|
0.00001
|
NM_003995.4(NPR2):c.1162C>T (p.Arg388Ter)
|
rs121912739
|
0.00001
|
NM_003995.4(NPR2):c.1435C>T (p.Arg479Ter)
|
rs1057519324
|
0.00001
|
NM_003995.4(NPR2):c.2245C>T (p.Arg749Trp)
|
rs61758531
|
0.00001
|
NM_003995.4(NPR2):c.2327G>A (p.Arg776Gln)
|
rs780293535
|
0.00001
|
NM_003995.4(NPR2):c.2341C>T (p.Gln781Ter)
|
rs768852284
|
0.00001
|
NM_003995.4(NPR2):c.2720C>T (p.Thr907Met)
|
rs1311857509
|
0.00001
|
GDF5, 22-BP DUP
|
|
|
GRCh37/hg19 9p13.3(chr9:35799615-35808850)
|
|
|
NM_000557.5(GDF5):c.1133G>A (p.Arg378Gln)
|
rs121909350
|
|
NM_000557.5(GDF5):c.1144del (p.Ala382fs)
|
rs1568731526
|
|
NM_000557.5(GDF5):c.1199G>A (p.Cys400Tyr)
|
rs74315387
|
|
NM_000557.5(GDF5):c.1306C>A (p.Pro436Thr)
|
rs121909351
|
|
NM_000557.5(GDF5):c.297dup (p.Arg100fs)
|
rs761962752
|
|
NM_000557.5(GDF5):c.404del (p.Pro135fs)
|
rs2146582931
|
|
NM_000557.5(GDF5):c.[1309_1311del;1315T>A1319A>T]
|
|
|
NM_001203.3(BMPR1B):c.157T>C (p.Cys53Arg)
|
rs863225041
|
|
NM_001203.3(BMPR1B):c.361_368del (p.Gly121fs)
|
rs863223287
|
|
NM_001203.3(BMPR1B):c.402_405del (p.Cys135fs)
|
|
|
NM_001203.3(BMPR1B):c.640C>A (p.Arg214Ser)
|
rs1553941890
|
|
NM_001203.3(BMPR1B):c.657G>A (p.Trp219Ter)
|
rs863225042
|
|
NM_001203.3(BMPR1B):c.91C>T (p.Arg31Cys)
|
rs745854387
|
|
NM_003995.4(NPR2):c.1087C>T (p.Arg363Ter)
|
rs767258629
|
|
NM_003995.4(NPR2):c.1092del (p.Ile364fs)
|
rs879255257
|
|
NM_003995.4(NPR2):c.1111C>T (p.Arg371Ter)
|
rs1828094222
|
|
NM_003995.4(NPR2):c.1163G>A (p.Arg388Gln)
|
rs1828106198
|
|
NM_003995.4(NPR2):c.1215del (p.Gln406fs)
|
rs1828107536
|
|
NM_003995.4(NPR2):c.1257G>A (p.Trp419Ter)
|
|
|
NM_003995.4(NPR2):c.125_126insTGGCG (p.Trp42fs)
|
rs2132066161
|
|
NM_003995.4(NPR2):c.14C>A (p.Ser5Ter)
|
rs749952755
|
|
NM_003995.4(NPR2):c.1511C>G (p.Ser504Ter)
|
|
|
NM_003995.4(NPR2):c.1699G>T (p.Glu567Ter)
|
rs2132082975
|
|
NM_003995.4(NPR2):c.1758del (p.Ala585_Cys586insTer)
|
rs1057519334
|
|
NM_003995.4(NPR2):c.1801C>A (p.Arg601Ser)
|
|
|
NM_003995.4(NPR2):c.1887+2T>A
|
rs1828226013
|
|
NM_003995.4(NPR2):c.2143C>T (p.Gln715Ter)
|
rs1828356952
|
|
NM_003995.4(NPR2):c.2221C>T (p.Arg741Ter)
|
rs2132090998
|
|
NM_003995.4(NPR2):c.2299C>T (p.Arg767Ter)
|
rs753472316
|
|
NM_003995.4(NPR2):c.2302T>C (p.Cys768Arg)
|
rs1057519333
|
|
NM_003995.4(NPR2):c.2424T>G (p.Tyr808Ter)
|
|
|
NM_003995.4(NPR2):c.2527del (p.Ala843fs)
|
rs1588068987
|
|
NM_003995.4(NPR2):c.2738dup (p.Met913fs)
|
|
|
NM_003995.4(NPR2):c.2761C>T (p.Arg921Ter)
|
rs1554674642
|
|
NM_003995.4(NPR2):c.2845C>T (p.Arg949Ter)
|
rs1452208078
|
|
NM_003995.4(NPR2):c.2944G>A (p.Asp982Asn)
|
rs1057519336
|
|
NM_003995.4(NPR2):c.2965C>T (p.Arg989Ter)
|
|
|
NM_003995.4(NPR2):c.2966G>A (p.Arg989Gln)
|
rs771373457
|
|
NM_003995.4(NPR2):c.2966G>T (p.Arg989Leu)
|
rs771373457
|
|
NM_003995.4(NPR2):c.343T>G (p.Trp115Gly)
|
rs28931582
|
|
NM_003995.4(NPR2):c.448G>A (p.Gly150Ser)
|
rs2132066800
|
|
NM_003995.4(NPR2):c.507del (p.Tyr170fs)
|
rs2132066904
|
|
NM_003995.4(NPR2):c.528T>A (p.Asp176Glu)
|
rs28929479
|
|
NM_003995.4(NPR2):c.560T>A (p.Val187Asp)
|
rs1057519335
|
|
NM_003995.4(NPR2):c.60del (p.Ala22fs)
|
rs2132066003
|
|
NM_003995.4(NPR2):c.613C>T (p.Arg205Ter)
|
rs1180840764
|
|
NM_003995.4(NPR2):c.721C>T (p.Gln241Ter)
|
|
|
NM_003995.4(NPR2):c.748del (p.Tyr250fs)
|
rs1827867580
|
|
NM_003995.4(NPR2):c.844C>T (p.Gln282Ter)
|
|
|
NM_003995.4(NPR2):c.94C>A (p.Pro32Thr)
|
rs28931581
|
|
NM_006259.3(PRKG2):c.1154+1G>A
|
rs995285513
|
|
NM_006259.3(PRKG2):c.1705C>T (p.Arg569Ter)
|
rs1291510415
|
|
NM_006259.3(PRKG2):c.491dup (p.Asn164fs)
|
rs2110087773
|
|