Variants with conflicting interpretations studied for Juvenile polyposis syndrome

Minimum review status of the submission for Juvenile polyposis syndrome:		Collection method of the submission for Juvenile polyposis syndrome:
Minimum review status of the other submission:		Collection method of the other submission:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission per condition	Variants with at least 2 submissions on the same condition and no conflicts	Variants with a synonymous conflict (e.g. benign vs non-pathogenic)	Variants with a confidence conflict (e.g. benign vs likely benign)	Variants with a benign or likely benign vs uncertain conflict	Variants with a category conflict (e.g. benign vs affects)	Variants with a clinically significant conflict (e.g. benign vs pathogenic)	Variants with any conflict
2930	350	0	254	36	0	5	291

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

	All conditions
Juvenile polyposis syndrome		pathogenic	likely pathogenic	uncertain significance	likely benign	benign
	pathogenic	0	6	2	0	0
	likely pathogenic	6	0	3	0	0
	uncertain significance	2	4	0	30	9
	likely benign	0	0	30	0	248
	benign	0	0	9	248	0

Condition to condition summary #

Total conditions: 2

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Condition	Variants with only 1 submission per condition	Variants with at least 2 submissions on the same condition and no conflicts	Variants with a synonymous conflict (e.g. benign vs non-pathogenic)	Variants with a confidence conflict (e.g. benign vs likely benign)	Variants with a benign or likely benign vs uncertain conflict	Variants with a category conflict (e.g. benign vs affects)	Variants with a clinically significant conflict (e.g. benign vs pathogenic)	Variants with any conflict
Juvenile polyposis syndrome	2931	350	0	254	36	0	4	290
Juvenile Polyposis	0	0	0	0	0	0	1	1

All variants with conflicting interpretations #

Total variants: 291

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HGVS	dbSNP	gnomAD frequency
NM_004329.3(BMPR1A):c.618A>G (p.Leu206=)	rs55992440	0.00257
NM_005359.6(SMAD4):c.565C>T (p.Arg189Cys)	rs140743238	0.00104
NM_004329.3(BMPR1A):c.1327C>T (p.Arg443Cys)	rs35619497	0.00081
NM_005359.6(SMAD4):c.1573A>G (p.Ile525Val)	rs149755320	0.00068
NM_004329.3(BMPR1A):c.1243G>A (p.Glu415Lys)	rs140592056	0.00051
NM_005359.6(SMAD4):c.102A>G (p.Thr34=)	rs146104321	0.00032
NM_004329.3(BMPR1A):c.1433G>A (p.Arg478His)	rs113849804	0.00024
NM_004329.3(BMPR1A):c.1235T>C (p.Val412Ala)	rs576247658	0.00014
NM_004329.3(BMPR1A):c.676-6A>C	rs186999445	0.00014
NM_005359.6(SMAD4):c.521C>A (p.Thr174Asn)	rs138800446	0.00014
NM_004329.3(BMPR1A):c.33G>A (p.Leu11=)	rs535411352	0.00009
NM_004329.3(BMPR1A):c.499A>G (p.Met167Val)	rs200951235	0.00007
NM_004329.3(BMPR1A):c.879G>A (p.Ala293=)	rs770203548	0.00007
NM_005359.6(SMAD4):c.947A>G (p.Asn316Ser)	rs377119288	0.00005
NM_004329.3(BMPR1A):c.1216C>T (p.Arg406Cys)	rs587781332	0.00004
NM_004329.3(BMPR1A):c.1401C>T (p.Tyr467=)	rs149787558	0.00004
NM_004329.3(BMPR1A):c.1474-9A>G	rs372031054	0.00004
NM_004329.3(BMPR1A):c.117C>T (p.Ser39=)	rs757333646	0.00003
NM_004329.3(BMPR1A):c.198C>T (p.His66=)	rs150493865	0.00003
NM_004329.3(BMPR1A):c.510C>T (p.Phe170=)	rs747266339	0.00003
NM_004329.3(BMPR1A):c.68-12A>G	rs201120747	0.00003
NM_004329.3(BMPR1A):c.760C>T (p.Arg254Cys)	rs587782578	0.00003
NM_005359.6(SMAD4):c.20C>T (p.Thr7Met)	rs372316981	0.00003
NM_004329.3(BMPR1A):c.1068C>T (p.Pro356=)	rs759520915	0.00002
NM_004329.3(BMPR1A):c.1086C>T (p.Asp362=)	rs201415408	0.00002
NM_004329.3(BMPR1A):c.1230C>T (p.Pro410=)	rs200642188	0.00002
NM_004329.3(BMPR1A):c.12A>G (p.Leu4=)	rs772729006	0.00002
NM_004329.3(BMPR1A):c.1368A>G (p.Pro456=)	rs864622447	0.00002
NM_004329.3(BMPR1A):c.1569G>A (p.Lys523=)	rs876659703	0.00002
NM_004329.3(BMPR1A):c.1578A>G (p.Glu526=)	rs202030576	0.00002
NM_004329.3(BMPR1A):c.183C>T (p.Cys61=)	rs140610221	0.00002
NM_004329.3(BMPR1A):c.27A>G (p.Arg9=)	rs751420248	0.00002
NM_004329.3(BMPR1A):c.30A>G (p.Leu10=)	rs754752449	0.00002
NM_004329.3(BMPR1A):c.762T>C (p.Arg254=)	rs372569976	0.00002
NM_004329.3(BMPR1A):c.765C>T (p.Gly255=)	rs786201114	0.00002
NM_004329.3(BMPR1A):c.831C>A (p.Ile277=)	rs876659520	0.00002
NM_004329.3(BMPR1A):c.885C>T (p.Asp295=)	rs773569581	0.00002
NM_005359.6(SMAD4):c.471G>A (p.Met157Ile)	rs780716382	0.00002
NM_005359.6(SMAD4):c.575C>T (p.Thr192Ile)	rs587780792	0.00002
NM_004329.3(BMPR1A):c.1017C>G (p.Ala339=)	rs780130011	0.00001
NM_004329.3(BMPR1A):c.1053C>T (p.Gly351=)	rs1554891081	0.00001
NM_004329.3(BMPR1A):c.1081C>G (p.Arg361Gly)	rs764466442	0.00001
NM_004329.3(BMPR1A):c.1089A>G (p.Leu363=)	rs863224393	0.00001
NM_004329.3(BMPR1A):c.1101C>T (p.Asn367=)	rs863224394	0.00001
NM_004329.3(BMPR1A):c.1104C>T (p.Ile368=)	rs1060504911	0.00001
NM_004329.3(BMPR1A):c.1146C>A (p.Gly382=)	rs786203626	0.00001
NM_004329.3(BMPR1A):c.1152T>C (p.Ala384=)	rs1057520795	0.00001
NM_004329.3(BMPR1A):c.1173A>T (p.Thr391=)	rs766032673	0.00001
NM_004329.3(BMPR1A):c.1191C>G (p.Pro397=)	rs751078831	0.00001
NM_004329.3(BMPR1A):c.1206G>A (p.Val402=)	rs1843665394	0.00001
NM_004329.3(BMPR1A):c.1242C>T (p.Asp414=)	rs767296986	0.00001
NM_004329.3(BMPR1A):c.1266C>T (p.Phe422=)	rs786202823	0.00001
NM_004329.3(BMPR1A):c.1296C>T (p.Ser432=)	rs1060504907	0.00001
NM_004329.3(BMPR1A):c.1311T>C (p.Ile437=)	rs541331090	0.00001
NM_004329.3(BMPR1A):c.1323T>C (p.Ala441=)	rs2133608618	0.00001
NM_004329.3(BMPR1A):c.1335C>T (p.Ile445=)	rs1218546341	0.00001
NM_004329.3(BMPR1A):c.1344G>A (p.Gly448=)	rs1589293406	0.00001
NM_004329.3(BMPR1A):c.1347C>T (p.Ile449=)	rs1057520966	0.00001
NM_004329.3(BMPR1A):c.1359C>T (p.Tyr453=)	rs876660878	0.00001
NM_004329.3(BMPR1A):c.1362A>G (p.Gln454=)	rs764090248	0.00001
NM_004329.3(BMPR1A):c.1371T>C (p.Tyr457=)	rs1484956301	0.00001
NM_004329.3(BMPR1A):c.1398A>C (p.Ser466=)	rs56410735	0.00001
NM_004329.3(BMPR1A):c.1422G>A (p.Val474=)	rs760220938	0.00001
NM_004329.3(BMPR1A):c.1479A>G (p.Leu493=)	rs1554891640	0.00001
NM_004329.3(BMPR1A):c.1536C>T (p.Leu512=)	rs758796892	0.00001
NM_004329.3(BMPR1A):c.1543T>C (p.Leu515=)	rs746700427	0.00001
NM_004329.3(BMPR1A):c.189C>T (p.Cys63=)	rs1413243663	0.00001
NM_004329.3(BMPR1A):c.213T>C (p.Ala71=)	rs1554888138	0.00001
NM_004329.3(BMPR1A):c.225A>G (p.Thr75=)	rs1414026379	0.00001
NM_004329.3(BMPR1A):c.276A>G (p.Gly92=)	rs1564715466	0.00001
NM_004329.3(BMPR1A):c.285A>G (p.Thr95=)	rs1473234057	0.00001
NM_004329.3(BMPR1A):c.357C>G (p.Arg119=)	rs757950894	0.00001
NM_004329.3(BMPR1A):c.360G>T (p.Arg120=)	rs1554888968	0.00001
NM_004329.3(BMPR1A):c.372T>C (p.Cys124=)	rs755028781	0.00001
NM_004329.3(BMPR1A):c.384T>C (p.Asn128=)	rs2133454210	0.00001
NM_004329.3(BMPR1A):c.411A>G (p.Thr137=)	rs777389675	0.00001
NM_004329.3(BMPR1A):c.471C>T (p.Leu157=)	rs1060504903	0.00001
NM_004329.3(BMPR1A):c.474T>C (p.Ile158=)	rs759223499	0.00001
NM_004329.3(BMPR1A):c.516C>T (p.Ser172=)	rs1391614707	0.00001
NM_004329.3(BMPR1A):c.558A>G (p.Arg186=)	rs752388441	0.00001
NM_004329.3(BMPR1A):c.594A>G (p.Ala198=)	rs369860867	0.00001
NM_004329.3(BMPR1A):c.60T>C (p.Arg20=)	rs780704079	0.00001
NM_004329.3(BMPR1A):c.666A>G (p.Leu222=)	rs1843504404	0.00001
NM_004329.3(BMPR1A):c.676-3A>C	rs587782760	0.00001
NM_004329.3(BMPR1A):c.682C>A (p.Arg228=)	rs587782682	0.00001
NM_004329.3(BMPR1A):c.713G>A (p.Arg238Gln)	rs191742018	0.00001
NM_004329.3(BMPR1A):c.732A>G (p.Arg244=)	rs1554890761	0.00001
NM_004329.3(BMPR1A):c.749T>C (p.Met250Thr)	rs587780783	0.00001
NM_004329.3(BMPR1A):c.774G>A (p.Val258=)	rs540411494	0.00001
NM_004329.3(BMPR1A):c.786A>G (p.Val262=)	rs745728681	0.00001
NM_004329.3(BMPR1A):c.789C>T (p.Phe263=)	rs771932684	0.00001
NM_004329.3(BMPR1A):c.798T>C (p.Thr266=)	rs1439711488	0.00001
NM_004329.3(BMPR1A):c.825A>C (p.Thr275=)	rs1345972234	0.00001
NM_004329.3(BMPR1A):c.840T>C (p.Thr280=)	rs1032369061	0.00001
NM_004329.3(BMPR1A):c.868+9A>G	rs766298777	0.00001
NM_004329.3(BMPR1A):c.869-4A>C	rs964020576	0.00001
NM_004329.3(BMPR1A):c.897A>T (p.Thr299=)	rs1057521188	0.00001
NM_004329.3(BMPR1A):c.927T>C (p.Thr309=)	rs779691540	0.00001
NM_004329.3(BMPR1A):c.972T>C (p.Ala324=)	rs1301330096	0.00001
NM_004329.3(BMPR1A):c.975A>G (p.Thr325=)	rs974541270	0.00001
NM_004329.3(BMPR1A):c.990C>T (p.Ala330=)	rs199808362	0.00001
NM_005359.6(SMAD4):c.1046C>T (p.Thr349Ile)	rs564408927	0.00001
NM_005359.6(SMAD4):c.449G>A (p.Ser150Asn)	rs750355699	0.00001
NM_005359.6(SMAD4):c.535A>G (p.Ile179Val)	rs542392980	0.00001
NM_005359.6(SMAD4):c.671A>T (p.Gln224Leu)	rs587780793	0.00001
NM_005359.6(SMAD4):c.743A>T (p.Gln248Leu)	rs751985298	0.00001
NM_004329.3(BMPR1A):c.*1T>C	rs1843704052
NM_004329.3(BMPR1A):c.*2G>A	rs876660618
NM_004329.3(BMPR1A):c.1000T>C (p.Leu334=)	rs749873461
NM_004329.3(BMPR1A):c.1011A>G (p.Ser337=)
NM_004329.3(BMPR1A):c.1023T>C (p.Gly341=)	rs2133591869
NM_004329.3(BMPR1A):c.1023T>G (p.Gly341=)	rs2133591869
NM_004329.3(BMPR1A):c.1029C>T (p.Cys343=)	rs2133591953
NM_004329.3(BMPR1A):c.1032C>T (p.His344=)	rs1589291699
NM_004329.3(BMPR1A):c.1041A>T (p.Thr347=)
NM_004329.3(BMPR1A):c.1044A>G (p.Glu348=)	rs781082609
NM_004329.3(BMPR1A):c.1059A>G (p.Gln353=)	rs1060503407
NM_004329.3(BMPR1A):c.1062A>G (p.Gly354=)	rs2539621694
NM_004329.3(BMPR1A):c.1077T>A (p.Ala359=)	rs761131818
NM_004329.3(BMPR1A):c.1077T>C (p.Ala359=)	rs761131818
NM_004329.3(BMPR1A):c.1080T>C (p.His360=)	rs2133592946
NM_004329.3(BMPR1A):c.1089A>C (p.Leu363=)	rs863224393
NM_004329.3(BMPR1A):c.10C>T (p.Leu4=)	rs2133321068
NM_004329.3(BMPR1A):c.1104C>A (p.Ile368=)
NM_004329.3(BMPR1A):c.1107C>G (p.Leu369=)	rs761569881
NM_004329.3(BMPR1A):c.1107C>T (p.Leu369=)	rs761569881
NM_004329.3(BMPR1A):c.1119T>C (p.Asn373=)	rs1224219121
NM_004329.3(BMPR1A):c.1122G>A (p.Gly374=)	rs1589291806
NM_004329.3(BMPR1A):c.1141C>T (p.Leu381=)	rs864622566
NM_004329.3(BMPR1A):c.1146C>G (p.Gly382=)	rs786203626
NM_004329.3(BMPR1A):c.1155T>A (p.Val385=)	rs2539623858
NM_004329.3(BMPR1A):c.1166+3G>A	rs2133594431
NM_004329.3(BMPR1A):c.1167-13T>G	rs1057517581
NM_004329.3(BMPR1A):c.1170C>T (p.Asp390=)
NM_004329.3(BMPR1A):c.1176T>C (p.Asn392=)	rs1589292569
NM_004329.3(BMPR1A):c.117C>G (p.Ser39=)	rs757333646
NM_004329.3(BMPR1A):c.1188G>A (p.Val396=)	rs1843665086
NM_004329.3(BMPR1A):c.1194G>A (p.Leu398=)
NM_004329.3(BMPR1A):c.1212C>G (p.Thr404=)	rs2539636144
NM_004329.3(BMPR1A):c.1214A>G (p.Lys405Arg)	rs1064795593
NM_004329.3(BMPR1A):c.1215A>G (p.Lys405=)	rs587781522
NM_004329.3(BMPR1A):c.1218C>A (p.Arg406=)
NM_004329.3(BMPR1A):c.1230C>G (p.Pro410=)	rs200642188
NM_004329.3(BMPR1A):c.1249C>T (p.Leu417=)	rs1554891334
NM_004329.3(BMPR1A):c.1251G>A (p.Leu417=)	rs1554891336
NM_004329.3(BMPR1A):c.1263C>T (p.His421=)	rs1589292651
NM_004329.3(BMPR1A):c.126A>G (p.Lys42=)	rs773814289
NM_004329.3(BMPR1A):c.1272C>T (p.Pro424=)
NM_004329.3(BMPR1A):c.1287C>T (p.Asp429=)	rs777021606
NM_004329.3(BMPR1A):c.1290C>T (p.Ile430=)	rs2133608002
NM_004329.3(BMPR1A):c.1293C>T (p.Tyr431=)	rs1554891344
NM_004329.3(BMPR1A):c.1305A>G (p.Leu435=)	rs2133608266
NM_004329.3(BMPR1A):c.1328G>A (p.Arg443His)	rs876659155
NM_004329.3(BMPR1A):c.132A>C (p.Ser44=)	rs1554888111
NM_004329.3(BMPR1A):c.132A>G (p.Ser44=)	rs1554888111
NM_004329.3(BMPR1A):c.1342+3G>A	rs2133608987
NM_004329.3(BMPR1A):c.1347C>A (p.Ile449=)	rs1057520966
NM_004329.3(BMPR1A):c.1365G>A (p.Leu455=)	rs753694209
NM_004329.3(BMPR1A):c.1374C>T (p.Tyr458=)	rs1564725603
NM_004329.3(BMPR1A):c.1386G>A (p.Pro462=)	rs751815388
NM_004329.3(BMPR1A):c.1386G>C (p.Pro462=)	rs751815388
NM_004329.3(BMPR1A):c.1386G>T (p.Pro462=)	rs751815388
NM_004329.3(BMPR1A):c.1394del (p.Pro465fs)	rs2539648615
NM_004329.3(BMPR1A):c.1395G>A (p.Pro465=)	rs55845713
NM_004329.3(BMPR1A):c.1398A>G (p.Ser466=)	rs56410735
NM_004329.3(BMPR1A):c.1409T>C (p.Met470Thr)	rs199476089
NM_004329.3(BMPR1A):c.1416G>A (p.Glu472=)	rs1410256559
NM_004329.3(BMPR1A):c.1422G>T (p.Val474=)	rs760220938
NM_004329.3(BMPR1A):c.1428C>A (p.Val476=)	rs1589293466
NM_004329.3(BMPR1A):c.1434T>A (p.Arg478=)	rs1057521680
NM_004329.3(BMPR1A):c.1435T>C (p.Leu479=)	rs1564725667
NM_004329.3(BMPR1A):c.1440G>C (p.Arg480=)	rs1564725678
NM_004329.3(BMPR1A):c.1446T>C (p.Ile482=)	rs1843696706
NM_004329.3(BMPR1A):c.1449G>T (p.Val483=)	rs759740989
NM_004329.3(BMPR1A):c.1473+3G>A	rs1589293539
NM_004329.3(BMPR1A):c.1473+6_1473+10dup
NM_004329.3(BMPR1A):c.1477C>T (p.Leu493=)	rs2133623926
NM_004329.3(BMPR1A):c.1485A>C (p.Ala495=)	rs2133624106
NM_004329.3(BMPR1A):c.148T>C (p.Leu50=)	rs964544915
NM_004329.3(BMPR1A):c.1502C>G (p.Ser501Ter)	rs1554891649
NM_004329.3(BMPR1A):c.1515C>G (p.Ala505=)	rs1589293633
NM_004329.3(BMPR1A):c.1536C>A (p.Leu512=)	rs758796892
NM_004329.3(BMPR1A):c.1539A>G (p.Thr513=)	rs780244868
NM_004329.3(BMPR1A):c.1539A>T (p.Thr513=)	rs780244868
NM_004329.3(BMPR1A):c.153A>C (p.Ala51=)	rs2539431710
NM_004329.3(BMPR1A):c.153A>G (p.Ala51=)	rs2539431710
NM_004329.3(BMPR1A):c.1551T>A (p.Ile517=)	rs1471929511
NM_004329.3(BMPR1A):c.1560G>T (p.Thr520=)	rs142775086
NM_004329.3(BMPR1A):c.156A>G (p.Pro52=)	rs1589763398
NM_004329.3(BMPR1A):c.1596C>A (p.Ile532=)	rs201345248
NM_004329.3(BMPR1A):c.15C>T (p.Tyr5=)	rs1392086533
NM_004329.3(BMPR1A):c.162T>C (p.Asp54=)	rs2133395611
NM_004329.3(BMPR1A):c.165C>T (p.Thr55=)
NM_004329.3(BMPR1A):c.168G>A (p.Leu56=)	rs1589763414
NM_004329.3(BMPR1A):c.177A>G (p.Leu59=)	rs1030150137
NM_004329.3(BMPR1A):c.186T>C (p.Tyr62=)	rs2133396011
NM_004329.3(BMPR1A):c.195G>A (p.Gly65=)	rs765437517
NM_004329.3(BMPR1A):c.195G>C (p.Gly65=)	rs765437517
NM_004329.3(BMPR1A):c.204A>C (p.Pro68=)	rs1843128030
NM_004329.3(BMPR1A):c.207T>C (p.Asp69=)	rs2133396430
NM_004329.3(BMPR1A):c.210T>C (p.Asp70=)	rs1589763468
NM_004329.3(BMPR1A):c.21C>T (p.Tyr7=)	rs2133321194
NM_004329.3(BMPR1A):c.222C>T (p.Asn74=)	rs2133396713
NM_004329.3(BMPR1A):c.231-10del	rs747206781
NM_004329.3(BMPR1A):c.231-10dup	rs747206781
NM_004329.3(BMPR1A):c.231-9C>A	rs763313220
NM_004329.3(BMPR1A):c.240A>G (p.Gly80=)	rs1282223116
NM_004329.3(BMPR1A):c.240A>T (p.Gly80=)	rs1282223116
NM_004329.3(BMPR1A):c.246C>T (p.Cys82=)	rs759647230
NM_004329.3(BMPR1A):c.24C>T (p.Ile8=)	rs1554886810
NM_004329.3(BMPR1A):c.261A>G (p.Glu87=)	rs1564715455
NM_004329.3(BMPR1A):c.294A>G (p.Ser98=)	rs764466269
NM_004329.3(BMPR1A):c.297G>T (p.Gly99=)	rs1251509897
NM_004329.3(BMPR1A):c.300T>C (p.Cys100=)	rs754180012
NM_004329.3(BMPR1A):c.309T>C (p.Tyr103=)	rs876658891
NM_004329.3(BMPR1A):c.312A>G (p.Glu104=)	rs1199044872
NM_004329.3(BMPR1A):c.315A>C (p.Gly105=)	rs2133408970
NM_004329.3(BMPR1A):c.321T>C (p.Asp107=)	rs2539446592
NM_004329.3(BMPR1A):c.327G>A (p.Gln109=)	rs1589764339
NM_004329.3(BMPR1A):c.334-3T>C	rs1060503411
NM_004329.3(BMPR1A):c.336T>C (p.Asp112=)
NM_004329.3(BMPR1A):c.348C>T (p.Ala116=)	rs2133453411
NM_004329.3(BMPR1A):c.352C>T (p.Leu118=)	rs587782418
NM_004329.3(BMPR1A):c.355C>T (p.Arg119Cys)	rs587782494
NM_004329.3(BMPR1A):c.363A>G (p.Thr121=)	rs2133453764
NM_004329.3(BMPR1A):c.366A>T (p.Ile122=)	rs1843280770
NM_004329.3(BMPR1A):c.375T>C (p.Cys125=)	rs1449209053
NM_004329.3(BMPR1A):c.390T>C (p.Cys130=)	rs2539490786
NM_004329.3(BMPR1A):c.396G>A (p.Gln132=)	rs1564717712
NM_004329.3(BMPR1A):c.399T>C (p.Tyr133=)	rs1843282106
NM_004329.3(BMPR1A):c.39C>G (p.Ala13=)	rs1554886813
NM_004329.3(BMPR1A):c.405A>G (p.Gln135=)	rs1589768073
NM_004329.3(BMPR1A):c.430+4G>A	rs777139606
NM_004329.3(BMPR1A):c.435G>T (p.Pro145=)	rs11818239
NM_004329.3(BMPR1A):c.43T>C (p.Leu15=)	rs1163803159
NM_004329.3(BMPR1A):c.447C>T (p.Gly149=)	rs1589768207
NM_004329.3(BMPR1A):c.456A>G (p.Arg152=)	rs2133456447
NM_004329.3(BMPR1A):c.486C>T (p.Val162=)	rs1843287389
NM_004329.3(BMPR1A):c.51C>T (p.Ile17=)	rs2539351000
NM_004329.3(BMPR1A):c.537T>C (p.Tyr179=)	rs1305949468
NM_004329.3(BMPR1A):c.543G>A (p.Lys181=)	rs2133543775
NM_004329.3(BMPR1A):c.546C>T (p.Ser182=)	rs2133543824
NM_004329.3(BMPR1A):c.549C>T (p.Ile183=)	rs748339701
NM_004329.3(BMPR1A):c.561T>C (p.Arg187=)	rs1843501884
NM_004329.3(BMPR1A):c.567C>T (p.Tyr189=)	rs1554890213
NM_004329.3(BMPR1A):c.579G>A (p.Leu193=)	rs1060503404
NM_004329.3(BMPR1A):c.591A>G (p.Glu197=)	rs2133544983
NM_004329.3(BMPR1A):c.603A>G (p.Pro201=)	rs2133545231
NM_004329.3(BMPR1A):c.642A>G (p.Gln214=)
NM_004329.3(BMPR1A):c.648T>C (p.Ser216=)	rs1060504905
NM_004329.3(BMPR1A):c.651T>C (p.Gly217=)
NM_004329.3(BMPR1A):c.654T>C (p.Ser218=)	rs1843504209
NM_004329.3(BMPR1A):c.657G>T (p.Gly219=)	rs2133546041
NM_004329.3(BMPR1A):c.663A>C (p.Gly221=)	rs1462920023
NM_004329.3(BMPR1A):c.676-8C>A	rs1554890727
NM_004329.3(BMPR1A):c.693C>G (p.Ala231=)	rs1060504906
NM_004329.3(BMPR1A):c.693C>T (p.Ala231=)	rs1060504906
NM_004329.3(BMPR1A):c.69A>G (p.Gly23=)	rs780227469
NM_004329.3(BMPR1A):c.705G>A (p.Gln235=)	rs780907902
NM_004329.3(BMPR1A):c.711C>A (p.Val237=)	rs1554890747
NM_004329.3(BMPR1A):c.714G>A (p.Arg238=)	rs1554890752
NM_004329.3(BMPR1A):c.726A>G (p.Lys242=)	rs876659766
NM_004329.3(BMPR1A):c.729C>G (p.Gly243=)	rs770821763
NM_004329.3(BMPR1A):c.729C>T (p.Gly243=)	rs770821763
NM_004329.3(BMPR1A):c.735T>C (p.Tyr245=)	rs1131691182
NM_004329.3(BMPR1A):c.744A>G (p.Val248=)	rs1060504910
NM_004329.3(BMPR1A):c.76C>T (p.Leu26=)	rs2539429870
NM_004329.3(BMPR1A):c.81T>C (p.Asp27=)	rs1589763301
NM_004329.3(BMPR1A):c.828A>G (p.Glu276=)	rs1554890804
NM_004329.3(BMPR1A):c.834C>T (p.Tyr278=)	rs1230919713
NM_004329.3(BMPR1A):c.846A>G (p.Leu282=)	rs1843588559
NM_004329.3(BMPR1A):c.888T>C (p.Ile296=)	rs2133589202
NM_004329.3(BMPR1A):c.903C>G (p.Ser301=)	rs1843621876
NM_004329.3(BMPR1A):c.909T>C (p.Thr303=)	rs1554891026
NM_004329.3(BMPR1A):c.90T>C (p.Leu30=)	rs1564714758
NM_004329.3(BMPR1A):c.915C>T (p.Leu305=)
NM_004329.3(BMPR1A):c.933C>T (p.Tyr311=)	rs1554891035
NM_004329.3(BMPR1A):c.945A>G (p.Gly315=)	rs1843623133
NM_004329.3(BMPR1A):c.951C>G (p.Leu317=)	rs908671564
NM_004329.3(BMPR1A):c.953A>G (p.Tyr318Cys)	rs587778111
NM_004329.3(BMPR1A):c.963G>A (p.Leu321=)
NM_004329.3(BMPR1A):c.96C>T (p.Gly32=)	rs781458073
NM_004329.3(BMPR1A):c.978G>A (p.Leu326=)	rs761040138
NM_004329.3(BMPR1A):c.984C>T (p.Thr328=)	rs981282948
NM_004329.3(BMPR1A):c.993G>A (p.Leu331=)	rs786202827
NM_005359.6(SMAD4):c.1054G>A (p.Gly352Arg)	rs121912581
NM_005359.6(SMAD4):c.1156G>A (p.Gly386Ser)	rs1057519962
NM_005359.6(SMAD4):c.172A>G (p.Ile58Val)	rs786204166
NM_005359.6(SMAD4):c.533C>G (p.Ser178Ter)	rs377767331
NM_005359.6(SMAD4):c.894del (p.Gly299fs)	rs2144429392
NM_005359.6(SMAD4):c.910G>A (p.Val304Ile)	rs375185293

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