ClinVar Miner

List of variants reported as pathogenic for Juvenile polyposis syndrome by Labcorp Genetics (formerly Invitae), Labcorp

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 290
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HGVS dbSNP gnomAD frequency
NM_004329.3(BMPR1A):c.1081C>T (p.Arg361Ter) rs764466442 0.00001
NM_005359.6(SMAD4):c.1486C>T (p.Arg496Cys) rs397518413 0.00001
NC_000010.10:g.(?_88441193)_(88722432_?)del
NC_000010.10:g.(?_88516246)_(88528678_?)del
NC_000010.10:g.(?_88598623)_(88635852_?)del
NC_000010.10:g.(?_88598623)_(88659889_?)del
NC_000010.10:g.(?_88649809)_(89725239_?)del
NC_000010.10:g.(?_88651874)_(88651996_?)del
NC_000010.10:g.(?_88659541)_(88659893_?)del
NC_000010.10:g.(?_88669791)_88681457del
NC_000010.10:g.(?_88671987)_(88672151_?)del
NC_000010.10:g.(?_88676881)_(88679236_?)del
NC_000010.10:g.(?_88676881)_(88683476_?)del
NC_000010.10:g.(?_88678919)_(88679236_?)del
NC_000010.10:g.(?_88681437)_(88682621_?)del
NC_000010.10:g.(?_88683123)_(88683476_?)del
NC_000010.10:g.(?_88683123)_(89725321_?)del
NC_000010.11:g.(?_86755016)_(86923719_?)del
NC_000010.11:g.(?_86875868)_(86876095_?)del
NC_000010.11:g.(?_86876009)_(86923729_?)del
NC_000010.11:g.(?_86912230)_(86917336_?)del
NC_000018.10:g.(?_51030213)_(51078467_?)del
NC_000018.10:g.(?_51065417)_(51067193_?)del
NC_000018.9:g.(?_48556583)_(48593567_?)del
NC_000018.9:g.(?_48565515)_(48591839_?)del
NC_000018.9:g.(?_48573290)_(48575704_?)del
NC_000018.9:g.(?_48591783)_(48591986_?)del
NC_000018.9:g.(?_48591783)_(48593567_?)del
NC_000018.9:g.(?_48593383)_(48604842_?)del
NC_000018.9:g.(?_48602988)_(48604837_?)del
NC_000018.9:g.(?_48602998)_(48604837_?)del
NC_000018.9:g.(?_48604616)_(48604837_?)del
NM_004329.2(BMPR1A):c.676delG rs1064796072
NM_004329.3(BMPR1A):c.1010C>A (p.Ser337Ter) rs1554891075
NM_004329.3(BMPR1A):c.1019del (p.Cys340fs)
NM_004329.3(BMPR1A):c.1022del (p.Gly341fs) rs2133591810
NM_004329.3(BMPR1A):c.1057C>T (p.Gln353Ter) rs2133592454
NM_004329.3(BMPR1A):c.1064del (p.Lys355fs) rs2133592586
NM_004329.3(BMPR1A):c.1100del (p.Asn367fs) rs1843627734
NM_004329.3(BMPR1A):c.1101_1102dup (p.Ile368fs) rs2133593245
NM_004329.3(BMPR1A):c.1119dup (p.Gly374fs) rs2133593569
NM_004329.3(BMPR1A):c.111delinsCCATGGCACTGGGAT (p.Asp38fs)
NM_004329.3(BMPR1A):c.111dup (p.Asp38fs)
NM_004329.3(BMPR1A):c.1127dup (p.Cys376fs)
NM_004329.3(BMPR1A):c.1131_1153dup (p.Val385fs) rs1843628465
NM_004329.3(BMPR1A):c.1131del (p.Cys376_Cys377insTer)
NM_004329.3(BMPR1A):c.1132_1133insCCTGGAG (p.Ile378fs)
NM_004329.3(BMPR1A):c.1151dup (p.Val385fs) rs2133594187
NM_004329.3(BMPR1A):c.1152del (p.Val385fs) rs1843628914
NM_004329.3(BMPR1A):c.1167-2A>G rs1843664505
NM_004329.3(BMPR1A):c.1171dup (p.Thr391fs)
NM_004329.3(BMPR1A):c.1193dup (p.Leu398fs) rs2133606135
NM_004329.3(BMPR1A):c.121C>T (p.Gln41Ter)
NM_004329.3(BMPR1A):c.1221C>G (p.Tyr407Ter) rs1131691181
NM_004329.3(BMPR1A):c.1231del (p.Glu411fs)
NM_004329.3(BMPR1A):c.1255A>T (p.Lys419Ter) rs2133607319
NM_004329.3(BMPR1A):c.1267del (p.Gln423fs) rs1589292655
NM_004329.3(BMPR1A):c.127_137del (p.Lys43fs) rs2133395056
NM_004329.3(BMPR1A):c.128_137del (p.Lys43fs)
NM_004329.3(BMPR1A):c.1314G>A (p.Trp438Ter) rs1564725052
NM_004329.3(BMPR1A):c.1322dup (p.Arg442fs)
NM_004329.3(BMPR1A):c.133_134del (p.Glu45fs) rs1564714804
NM_004329.3(BMPR1A):c.1354G>T (p.Glu452Ter)
NM_004329.3(BMPR1A):c.1360C>T (p.Gln454Ter) rs1554891570
NM_004329.3(BMPR1A):c.1372dup (p.Tyr458fs) rs2133620284
NM_004329.3(BMPR1A):c.1373_1379del (p.Tyr458fs)
NM_004329.3(BMPR1A):c.1374C>A (p.Tyr458Ter) rs1564725603
NM_004329.3(BMPR1A):c.1394del (p.Pro465fs)
NM_004329.3(BMPR1A):c.139G>T (p.Gly47Ter) rs1564714809
NM_004329.3(BMPR1A):c.1421dup (p.Cys475fs)
NM_004329.3(BMPR1A):c.1438C>T (p.Arg480Trp) rs876658515
NM_004329.3(BMPR1A):c.1461G>A (p.Trp487Ter) rs2133622305
NM_004329.3(BMPR1A):c.1473+1G>A rs1589293533
NM_004329.3(BMPR1A):c.1473+1G>C
NM_004329.3(BMPR1A):c.1473+2T>C rs1843697382
NM_004329.3(BMPR1A):c.1480C>T (p.Arg494Ter) rs786201040
NM_004329.3(BMPR1A):c.1511G>A (p.Trp504Ter) rs878854664
NM_004329.3(BMPR1A):c.156_165del (p.Glu53fs) rs2133395477
NM_004329.3(BMPR1A):c.15C>A (p.Tyr5Ter) rs1392086533
NM_004329.3(BMPR1A):c.15C>G (p.Tyr5Ter)
NM_004329.3(BMPR1A):c.160del (p.Asp54fs) rs1131691183
NM_004329.3(BMPR1A):c.176T>A (p.Leu59Ter) rs1564714834
NM_004329.3(BMPR1A):c.176del (p.Phe58_Leu59insTer) rs786201038
NM_004329.3(BMPR1A):c.176dup (p.Leu59fs)
NM_004329.3(BMPR1A):c.184_187dup (p.Cys63fs) rs1589763427
NM_004329.3(BMPR1A):c.192_193del (p.Gly65fs)
NM_004329.3(BMPR1A):c.1A>G (p.Met1Val) rs786203157
NM_004329.3(BMPR1A):c.213_228del (p.Ala71_Ile72insTer) rs1064792985
NM_004329.3(BMPR1A):c.244del (p.Cys82fs) rs1589764273
NM_004329.3(BMPR1A):c.247_251del (p.Phe83fs) rs786204187
NM_004329.3(BMPR1A):c.262G>T (p.Glu88Ter) rs730881431
NM_004329.3(BMPR1A):c.275del (p.Gly92fs) rs1554888317
NM_004329.3(BMPR1A):c.313G>T (p.Gly105Ter)
NM_004329.3(BMPR1A):c.338del (p.Ser113fs)
NM_004329.3(BMPR1A):c.349dup (p.Gln117fs)
NM_004329.3(BMPR1A):c.357_360del (p.Arg120fs) rs2133453577
NM_004329.3(BMPR1A):c.360del (p.Thr121fs) rs1064794031
NM_004329.3(BMPR1A):c.364dup (p.Ile122fs)
NM_004329.3(BMPR1A):c.394C>T (p.Gln132Ter) rs2133454296
NM_004329.3(BMPR1A):c.3G>T (p.Met1Ile) rs869312758
NM_004329.3(BMPR1A):c.3_4insACTCAGCTATACATTTACATCAGATCTTTTACAAGAAAATCTCACTGAATGATAGTCATTTAAATTGGTGAAGTAGCAAGACCAATTATTAAAGGTGACAGTACACAGGAAACATTACAATTGAACAATG (p.Pro2delinsThrGlnLeuTyrIleTyrIleArgSerPheThrArgLysSerHisTer)
NM_004329.3(BMPR1A):c.405dup (p.Pro136fs) rs876660442
NM_004329.3(BMPR1A):c.40dup (p.Tyr14fs) rs1554886815
NM_004329.3(BMPR1A):c.419del (p.Pro140fs) rs1554888986
NM_004329.3(BMPR1A):c.430+1G>A rs1843283551
NM_004329.3(BMPR1A):c.441_458delinsGA (p.Phe147fs) rs1131691179
NM_004329.3(BMPR1A):c.44_47del (p.Leu15fs) rs1554886816
NM_004329.3(BMPR1A):c.454C>T (p.Arg152Ter) rs1131691178
NM_004329.3(BMPR1A):c.455del (p.Arg152fs) rs1843286694
NM_004329.3(BMPR1A):c.458G>A (p.Trp153Ter) rs1131691176
NM_004329.3(BMPR1A):c.483dup (p.Val162fs)
NM_004329.3(BMPR1A):c.497_498del (p.Ala166fs)
NM_004329.3(BMPR1A):c.497del (p.Ala166fs) rs2133457292
NM_004329.3(BMPR1A):c.510del (p.Ser171fs)
NM_004329.3(BMPR1A):c.530+3A>G rs2133458164
NM_004329.3(BMPR1A):c.551C>G (p.Ser184Ter) rs1131691185
NM_004329.3(BMPR1A):c.566dup (p.Tyr189Ter) rs1564721929
NM_004329.3(BMPR1A):c.567C>A (p.Tyr189Ter) rs1554890213
NM_004329.3(BMPR1A):c.578dup (p.Leu193fs) rs1554890219
NM_004329.3(BMPR1A):c.583C>T (p.Gln195Ter) rs771910503
NM_004329.3(BMPR1A):c.634C>T (p.Gln212Ter)
NM_004329.3(BMPR1A):c.650del (p.Gly217fs) rs1843504014
NM_004329.3(BMPR1A):c.67+1G>A
NM_004329.3(BMPR1A):c.674del (p.Leu225fs) rs1564722014
NM_004329.3(BMPR1A):c.682C>T (p.Arg228Ter) rs587782682
NM_004329.3(BMPR1A):c.697C>T (p.Gln233Ter) rs1554890743
NM_004329.3(BMPR1A):c.70C>T (p.Gln24Ter)
NM_004329.3(BMPR1A):c.730C>T (p.Arg244Ter) rs759363072
NM_004329.3(BMPR1A):c.731dup (p.Tyr245fs) rs1554890759
NM_004329.3(BMPR1A):c.735T>G (p.Tyr245Ter) rs1131691182
NM_004329.3(BMPR1A):c.746G>A (p.Trp249Ter)
NM_004329.3(BMPR1A):c.771del (p.Val258fs) rs878854673
NM_004329.3(BMPR1A):c.813G>A (p.Trp271Ter) rs1589290773
NM_004329.3(BMPR1A):c.813del (p.Trp271fs) rs2133577022
NM_004329.3(BMPR1A):c.817C>T (p.Arg273Ter) rs587782400
NM_004329.3(BMPR1A):c.826_827del (p.Glu276fs) rs587781928
NM_004329.3(BMPR1A):c.829del (p.Ile277fs) rs2133577213
NM_004329.3(BMPR1A):c.834C>A (p.Tyr278Ter) rs1230919713
NM_004329.3(BMPR1A):c.834C>G (p.Tyr278Ter) rs1230919713
NM_004329.3(BMPR1A):c.842_843del (p.Val281fs)
NM_004329.3(BMPR1A):c.847dup (p.Met283fs) rs1564723486
NM_004329.3(BMPR1A):c.864dup (p.Leu289fs) rs1554890815
NM_004329.3(BMPR1A):c.889A>T (p.Lys297Ter)
NM_004329.3(BMPR1A):c.897_1029del (p.Gly300fs) rs1843621548
NM_004329.3(BMPR1A):c.905G>A (p.Trp302Ter) rs1589291548
NM_004329.3(BMPR1A):c.910C>T (p.Gln304Ter) rs1404557708
NM_004329.3(BMPR1A):c.917_920dup (p.Ile308fs) rs1554891032
NM_004329.3(BMPR1A):c.924del (p.Thr309fs) rs2133589910
NM_004329.3(BMPR1A):c.934del (p.His312fs) rs1060503408
NM_004329.3(BMPR1A):c.949_952del (p.Leu317fs) rs1060503409
NM_004329.3(BMPR1A):c.954dup (p.Asp319Ter) rs1843623596
NM_004329.3(BMPR1A):c.957dup (p.Phe320fs) rs1554891043
NM_004329.3(BMPR1A):c.973_980del (p.Thr325fs)
NM_004329.3(BMPR1A):c.97dup (p.Thr33fs) rs2133394533
NM_004329.3(BMPR1A):c.985_991del (p.Arg329fs)
NM_005359.5(SMAD4):c.731_732insGCCC(p.Gln245Profs) rs377767335
NM_005359.6(SMAD4):c.1010del (p.Glu337fs)
NM_005359.6(SMAD4):c.1017dup (p.Lys340Ter) rs2144446798
NM_005359.6(SMAD4):c.1023del (p.Pro342fs) rs1555686469
NM_005359.6(SMAD4):c.1028C>G (p.Ser343Ter) rs1599195400
NM_005359.6(SMAD4):c.1037del (p.Pro346fs) rs377767343
NM_005359.6(SMAD4):c.1067del (p.Pro356fs) rs1599195489
NM_005359.6(SMAD4):c.1067dup (p.Ser357fs) rs1599195489
NM_005359.6(SMAD4):c.1081C>G (p.Arg361Gly) rs80338963
NM_005359.6(SMAD4):c.1081C>T (p.Arg361Cys) rs80338963
NM_005359.6(SMAD4):c.1082G>A (p.Arg361His) rs377767347
NM_005359.6(SMAD4):c.1096C>T (p.Gln366Ter) rs1060500733
NM_005359.6(SMAD4):c.1125_1128dup (p.Glu377delinsHisTer) rs2144447925
NM_005359.6(SMAD4):c.112del (p.Arg38fs) rs2144400967
NM_005359.6(SMAD4):c.1134_1135del (p.Arg378fs) rs1555686503
NM_005359.6(SMAD4):c.1138del (p.Arg380fs) rs1555686506
NM_005359.6(SMAD4):c.1142T>A (p.Leu381Ter) rs863224507
NM_005359.6(SMAD4):c.1162C>T (p.Gln388Ter) rs80338964
NM_005359.6(SMAD4):c.1166_1167del (p.Gln388_Leu389insTer) rs1555686600
NM_005359.6(SMAD4):c.1176dup (p.Gly393fs) rs2144451929
NM_005359.6(SMAD4):c.1193G>A (p.Trp398Ter) rs377767357
NM_005359.6(SMAD4):c.1194G>A (p.Trp398Ter) rs1599196995
NM_005359.6(SMAD4):c.1198del (p.Arg400fs) rs1060500734
NM_005359.6(SMAD4):c.1201dup (p.Cys401fs) rs1555686604
NM_005359.6(SMAD4):c.1206dup (p.Ser403Ter) rs878854765
NM_005359.6(SMAD4):c.121G>T (p.Glu41Ter)
NM_005359.6(SMAD4):c.1228_1229del (p.Gln410fs) rs1555686608
NM_005359.6(SMAD4):c.1231_1232del (p.Ser411fs) rs730881952
NM_005359.6(SMAD4):c.1239C>A (p.Tyr413Ter) rs730881954
NM_005359.6(SMAD4):c.1239C>G (p.Tyr413Ter) rs730881954
NM_005359.6(SMAD4):c.1242del (p.Asp415fs) rs377767358
NM_005359.6(SMAD4):c.1245_1248del (p.Asp415Glufs) rs80338965
NM_005359.6(SMAD4):c.1249_1250del (p.Glu417fs) rs1599197105
NM_005359.6(SMAD4):c.1258_1259dup (p.Ala421fs) rs730881956
NM_005359.6(SMAD4):c.1271dup (p.Asp424fs) rs1555686616
NM_005359.6(SMAD4):c.1278del (p.His427fs)
NM_005359.6(SMAD4):c.1287del (p.Tyr430fs)
NM_005359.6(SMAD4):c.1304_1305dup (p.Lys436Ter) rs1910186100
NM_005359.6(SMAD4):c.1324C>T (p.Gln442Ter) rs1555687378
NM_005359.6(SMAD4):c.1333C>T (p.Arg445Ter) rs377767360
NM_005359.6(SMAD4):c.1343_1367del (p.Gln448fs) rs1568211187
NM_005359.6(SMAD4):c.1345C>T (p.Gln449Ter) rs587781359
NM_005359.6(SMAD4):c.1348C>T (p.Gln450Ter) rs1910478581
NM_005359.6(SMAD4):c.1349_1376del (p.Gln450fs) rs876660720
NM_005359.6(SMAD4):c.1349_1376dup (p.Ala460fs) rs876660720
NM_005359.6(SMAD4):c.1351_1375del (p.Ala451fs) rs587780124
NM_005359.6(SMAD4):c.1354_1381dup (p.Gln461fs) rs786204125
NM_005359.6(SMAD4):c.1363C>T (p.Gln455Ter) rs1599204121
NM_005359.6(SMAD4):c.1373dup (p.Ala459fs) rs2144474088
NM_005359.6(SMAD4):c.137_155del (p.Lys46fs)
NM_005359.6(SMAD4):c.1381C>T (p.Gln461Ter) rs1599204140
NM_005359.6(SMAD4):c.1407_1410dup (p.Gly471fs) rs1555687386
NM_005359.6(SMAD4):c.1409del (p.Pro470fs) rs1555687387
NM_005359.6(SMAD4):c.1415dup (p.Gly473fs) rs2144474485
NM_005359.6(SMAD4):c.1447+2T>C rs1060500740
NM_005359.6(SMAD4):c.1470del (p.Ile490fs)
NM_005359.6(SMAD4):c.1494dup (p.Cys499fs) rs2144478377
NM_005359.6(SMAD4):c.1498A>G (p.Ile500Val) rs281875322
NM_005359.6(SMAD4):c.1499T>C (p.Ile500Thr) rs281875321
NM_005359.6(SMAD4):c.1500A>G (p.Ile500Met) rs281875320
NM_005359.6(SMAD4):c.1506del (p.Arg502_Met503insTer)
NM_005359.6(SMAD4):c.1515del (p.Phe505fs) rs864622252
NM_005359.6(SMAD4):c.1523del (p.Gly508fs) rs2144478656
NM_005359.6(SMAD4):c.1529del (p.Gly510fs) rs1060500744
NM_005359.6(SMAD4):c.153dup (p.Asp52fs) rs786203560
NM_005359.6(SMAD4):c.1547dup (p.Ser517fs) rs587783060
NM_005359.6(SMAD4):c.1548del (p.Ser517fs) rs2144478902
NM_005359.6(SMAD4):c.1549_1550del (p.Ser517fs) rs377767373
NM_005359.6(SMAD4):c.1572G>A (p.Trp524Ter) rs1568211588
NM_005359.6(SMAD4):c.1586T>G (p.Leu529Ter)
NM_005359.6(SMAD4):c.1587dup (p.His530fs) rs377767376
NM_005359.6(SMAD4):c.1600C>T (p.Gln534Ter) rs377767383
NM_005359.6(SMAD4):c.170_173del (p.Ser56_Leu57insTer)
NM_005359.6(SMAD4):c.208_215del (p.Lys70fs)
NM_005359.6(SMAD4):c.217dup (p.Thr73fs) rs1909571836
NM_005359.6(SMAD4):c.223del (p.Gln75fs) rs2144401809
NM_005359.6(SMAD4):c.237_241dup (p.Arg81fs) rs2144401899
NM_005359.6(SMAD4):c.23del (p.Asn8fs) rs2144400284
NM_005359.6(SMAD4):c.247C>T (p.Gln83Ter) rs1599181251
NM_005359.6(SMAD4):c.263_267del (p.Lys88fs) rs1060500739
NM_005359.6(SMAD4):c.265G>T (p.Gly89Ter)
NM_005359.6(SMAD4):c.275_276del (p.His92fs) rs1555685156
NM_005359.6(SMAD4):c.282_283del (p.Tyr95fs)
NM_005359.6(SMAD4):c.296G>A (p.Trp99Ter) rs2144405369
NM_005359.6(SMAD4):c.321_330dup (p.His111Ter) rs1909619692
NM_005359.6(SMAD4):c.332_333del (p.His111fs) rs2144405621
NM_005359.6(SMAD4):c.348_349del (p.Tyr117fs) rs2144405750
NM_005359.6(SMAD4):c.354del (p.Phe119fs)
NM_005359.6(SMAD4):c.391dup (p.Tyr131fs)
NM_005359.6(SMAD4):c.399C>A (p.Tyr133Ter) rs779069779
NM_005359.6(SMAD4):c.403C>T (p.Arg135Ter) rs377767326
NM_005359.6(SMAD4):c.413C>A (p.Ser138Ter)
NM_005359.6(SMAD4):c.425-9A>G
NM_005359.6(SMAD4):c.430_431del (p.Ser144fs) rs377767328
NM_005359.6(SMAD4):c.443del (p.Leu148fs) rs1599182906
NM_005359.6(SMAD4):c.461C>G (p.Ser154Ter) rs1555685624
NM_005359.6(SMAD4):c.472del (p.Met157_Val158insTer) rs2144417880
NM_005359.6(SMAD4):c.498del (p.Phe166fs) rs1909795937
NM_005359.6(SMAD4):c.505C>T (p.Gln169Ter) rs1449334786
NM_005359.6(SMAD4):c.533C>A (p.Ser178Ter) rs377767331
NM_005359.6(SMAD4):c.533C>G (p.Ser178Ter) rs377767331
NM_005359.6(SMAD4):c.538C>T (p.Gln180Ter) rs377767332
NM_005359.6(SMAD4):c.547C>T (p.Gln183Ter) rs1555685645
NM_005359.6(SMAD4):c.563del (p.Asn188fs) rs2144418764
NM_005359.6(SMAD4):c.584dup (p.Tyr195Ter)
NM_005359.6(SMAD4):c.585C>G (p.Tyr195Ter) rs1316902116
NM_005359.6(SMAD4):c.620del (p.Asn207fs) rs2144419362
NM_005359.6(SMAD4):c.692dup (p.Ser232fs) rs377767334
NM_005359.6(SMAD4):c.699dup (p.Ser234Ter)
NM_005359.6(SMAD4):c.69del (p.Met24fs) rs1599181081
NM_005359.6(SMAD4):c.700dup (p.Ser234fs)
NM_005359.6(SMAD4):c.713_719del (p.Leu237_Leu238insTer) rs2144427004
NM_005359.6(SMAD4):c.714dup (p.Gln239fs) rs2144427024
NM_005359.6(SMAD4):c.725C>G (p.Ser242Ter)
NM_005359.6(SMAD4):c.728_735del (p.Gly243fs) rs1060500742
NM_005359.6(SMAD4):c.742C>T (p.Gln248Ter) rs2144427357
NM_005359.6(SMAD4):c.752del (p.Asn251fs) rs1555685925
NM_005359.6(SMAD4):c.754G>T (p.Gly252Ter)
NM_005359.6(SMAD4):c.766C>T (p.Gln256Ter)
NM_005359.6(SMAD4):c.778_779dup (p.His261fs)
NM_005359.6(SMAD4):c.779dup (p.Tyr260Ter) rs2144427739
NM_005359.6(SMAD4):c.780C>A (p.Tyr260Ter)
NM_005359.6(SMAD4):c.798del (p.Thr267fs)
NM_005359.6(SMAD4):c.803G>A (p.Trp268Ter)
NM_005359.6(SMAD4):c.819dup (p.Ala274fs)
NM_005359.6(SMAD4):c.828C>G (p.Tyr276Ter) rs1909901558
NM_005359.6(SMAD4):c.850C>T (p.Gln284Ter)
NM_005359.6(SMAD4):c.860dup (p.His287fs)
NM_005359.6(SMAD4):c.894del (p.Gly299fs) rs2144429392
NM_005359.6(SMAD4):c.895_896del (p.Gly299fs)
NM_005359.6(SMAD4):c.902dup (p.Tyr301Ter) rs2144429483
NM_005359.6(SMAD4):c.906G>A (p.Trp302Ter) rs878854769
NM_005359.6(SMAD4):c.936_939del (p.Pro313fs)
NM_005359.6(SMAD4):c.939dup (p.Ile314fs) rs1568206602
NM_005359.6(SMAD4):c.968G>A (p.Trp323Ter) rs2144446385

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