Variants with conflicting interpretations between Genome Diagnostics Laboratory, Amsterdam University Medical Center and Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)

Minimum review status of the submission from Genome Diagnostics Laboratory, Amsterdam University Medical Center:		Collection method of the submission from Genome Diagnostics Laboratory, Amsterdam University Medical Center:
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)
		ClinVar version:

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
75	410	0	292	0	0	0	292

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.

	pathogenic	likely pathogenic	likely benign	benign
pathogenic	0	9	0	0
likely pathogenic	3	0	0	0
likely benign	0	0	0	19
benign	0	0	261	0

All variants with conflicting interpretations #

Total variants: 292

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000435.3(NOTCH3):c.5526T>C (p.Ala1842=)	rs16980398	0.12317
NM_000435.3(NOTCH3):c.3058G>C (p.Ala1020Pro)	rs35769976	0.10508
NM_000435.3(NOTCH3):c.3547G>A (p.Val1183Met)	rs10408676	0.08167
NM_001852.4(COL9A2):c.1741G>A (p.Val581Ile)	rs3737821	0.06797
NM_021939.4(FKBP10):c.590A>G (p.Lys197Arg)	rs34764749	0.06739
NM_001257180.2(SLC20A2):c.910G>A (p.Gly304Ser)	rs73675069	0.05347
NM_003036.4(SKI):c.185C>G (p.Ala62Gly)	rs28384811	0.05253
NM_001844.5(COL2A1):c.1836T>C (p.Gly612=)	rs41317939	0.05124
NM_001853.4(COL9A3):c.280C>T (p.Pro94Ser)	rs35908728	0.04973
NM_001854.4(COL11A1):c.2043+8G>A	rs2622875	0.04635
NM_001114753.3(ENG):c.14C>T (p.Thr5Met)	rs35400405	0.04608
NM_000302.4(PLOD1):c.2124T>C (p.His708=)	rs879690	0.04545
NM_001851.6(COL9A1):c.2299A>G (p.Met767Val)	rs6910140	0.04394
NM_002775.5(HTRA1):c.753C>T (p.Ile251=)	rs17624021	0.04155
NM_001110556.2(FLNA):c.3035C>T (p.Ser1012Leu)	rs17091204	0.04081
NM_001110556.2(FLNA):c.5290G>A (p.Ala1764Thr)	rs57108893	0.04049
NM_018965.4(TREM2):c.632T>C (p.Leu211Pro)	rs2234256	0.04010
NM_007194.4(CHEK2):c.252A>G (p.Glu84=)	rs1805129	0.04009
NM_021922.3(FANCE):c.611C>T (p.Ser204Leu)	rs7761870	0.03770
NM_018112.3(TMEM38B):c.761G>C (p.Cys254Ser)	rs35232724	0.03714
NM_002335.4(LRP5):c.1999G>A (p.Val667Met)	rs4988321	0.03472
NM_001711.6(BGN):c.564C>T (p.Ile188=)	rs2070933	0.03463
NM_005902.4(SMAD3):c.508A>G (p.Ile170Val)	rs35874463	0.03414
NM_001851.6(COL9A1):c.1066-3T>C	rs16868869	0.03394
NM_004629.2(FANCG):c.1133C>T (p.Ser378Leu)	rs4986939	0.03269
NM_001018115.3(FANCD2):c.2712C>T (p.Asn904=)	rs35594075	0.03203
NM_001235.5(SERPINH1):c.955-6C>A	rs7105575	0.03189
NM_000435.3(NOTCH3):c.6438G>A (p.Ala2146=)	rs1044008	0.03162
NM_000142.5(FGFR3):c.588C>T (p.Arg196=)	rs2305180	0.03125
NM_006129.5(BMP1):c.1766-5C>T	rs76809016	0.02982
NM_030957.4(ADAMTS10):c.185G>A (p.Arg62Gln)	rs62621197	0.02952
NM_001018115.3(FANCD2):c.1367T>G (p.Leu456Arg)	rs35782247	0.02918
NM_001018115.3(FANCD2):c.2124T>C (p.Phe708=)	rs9809716	0.02768
NM_020975.6(RET):c.1264-5C>T	rs9282835	0.02749
NM_052854.4(CREB3L1):c.1547T>G (p.Ile516Ser)	rs73464035	0.02699
NM_001018115.3(FANCD2):c.64+12G>C	rs9833228	0.02661
NM_000302.4(PLOD1):c.250G>A (p.Ala84Thr)	rs34878020	0.02621
NM_000455.5(STK11):c.816C>T (p.Tyr272=)	rs9282859	0.02603
NM_030957.4(ADAMTS10):c.1588-7C>G	rs11882422	0.02550
NM_000435.3(NOTCH3):c.1140T>C (p.Pro380=)	rs61749020	0.02545
NM_024675.4(PALB2):c.3300T>G (p.Thr1100=)	rs45516100	0.02529
NM_001018115.3(FANCD2):c.1868A>C (p.Gln623Pro)	rs36070315	0.02463
NM_001999.4(FBN2):c.4098A>C (p.Thr1366=)	rs28763943	0.02427
NM_000138.5(FBN1):c.6888G>A (p.Gln2296=)	rs363830	0.02418
NM_000136.3(FANCC):c.408A>G (p.Gln136=)	rs1800360	0.02397
NM_000138.5(FBN1):c.7819+8A>C	rs363838	0.02324
NM_000501.4(ELN):c.2086+5G>C	rs111866046	0.02303
NM_001018115.3(FANCD2):c.2702G>T (p.Gly901Val)	rs35495399	0.02285
NM_203447.4(DOCK8):c.709G>A (p.Glu237Lys)	rs11789099	0.02275
NM_000264.5(PTCH1):c.735A>G (p.Thr245=)	rs1805154	0.02243
NM_000135.4(FANCA):c.2151G>T (p.Met717Ile)	rs1131660	0.02234
NM_004260.4(RECQL4):c.1258+6A>T	rs34437789	0.02229
NM_001852.4(COL9A2):c.737C>T (p.Thr246Met)	rs2228565	0.02212
NM_207122.2(EXT2):c.-31+474G>A	rs112082531	0.02206
NM_004628.5(XPC):c.142C>T (p.Leu48Phe)	rs2229089	0.02177
NM_024675.4(PALB2):c.2014G>C (p.Glu672Gln)	rs45532440	0.02171
NM_000051.4(ATM):c.2639-17G>T	rs2234994	0.02161
NM_000051.4(ATM):c.4138C>T (p.His1380Tyr)	rs3092856	0.02156
NM_000222.3(KIT):c.2394C>T (p.Ile798=)	rs55789615	0.02125
NM_004260.4(RECQL4):c.1565G>A (p.Arg522His)	rs35842750	0.02097
NM_006231.4(POLE):c.4290+5C>T	rs5744936	0.02053
NM_001018115.3(FANCD2):c.516A>G (p.Ile172Met)	rs35173688	0.02009
NM_001365276.2(TNXB):c.10673G>A (p.Arg3558His)	rs41267126	0.02004
NM_001844.5(COL2A1):c.610-7G>A	rs7967258	0.01915
NM_152281.3(GORAB):c.62-3T>C	rs73029138	0.01889
NM_080680.3(COL11A2):c.5165C>T (p.Pro1722Leu)	rs2229792	0.01881
NM_022725.4(FANCF):c.825G>A (p.Leu275=)	rs36045913	0.01879
NM_032444.4(SLX4):c.2824G>C (p.Glu942Gln)	rs114014006	0.01879
NM_017617.5(NOTCH1):c.6853G>A (p.Val2285Ile)	rs61751489	0.01849
NM_000142.5(FGFR3):c.348C>T (p.Arg116=)	rs2305179	0.01752
NM_024675.4(PALB2):c.2993G>A (p.Gly998Glu)	rs45551636	0.01717
NM_001852.4(COL9A2):c.955-4C>G	rs118135975	0.01678
NM_025137.4(SPG11):c.1108G>A (p.Glu370Lys)	rs77697105	0.01678
NM_000142.5(FGFR3):c.1075+5C>T	rs3135885	0.01659
NM_000112.4(SLC26A2):c.1474C>T (p.Arg492Trp)	rs78676079	0.01642
NM_000546.6(TP53):c.993+12T>C	rs1800899	0.01614
NM_152296.5(ATP1A3):c.994-20T>G	rs138485069	0.01603
NM_007194.4(CHEK2):c.1542+11T>A	rs17881716	0.01583
NM_020975.6(RET):c.2944C>T (p.Arg982Cys)	rs17158558	0.01567
NM_000435.3(NOTCH3):c.3399C>A (p.His1133Gln)	rs112197217	0.01566
NM_000435.3(NOTCH3):c.6102C>T (p.Pro2034=)	rs114887570	0.01539
NM_000428.3(LTBP2):c.3262G>A (p.Gly1088Ser)	rs61505039	0.01509
NM_000136.3(FANCC):c.416G>A (p.Gly139Glu)	rs1800362	0.01494
NM_000136.3(FANCC):c.843+4C>T	rs4647506	0.01468
NM_005902.4(SMAD3):c.870C>T (p.Ile290=)	rs117185005	0.01464
NM_014967.5(FAN1):c.1851C>T (p.Ser617=)	rs118060760	0.01439
NM_003238.6(TGFB2):c.643+7A>C	rs7531245	0.01418
NM_006231.4(POLE):c.6418G>A (p.Glu2140Lys)	rs5745066	0.01416
NM_000051.4(ATM):c.2685A>G (p.Leu895=)	rs3218687	0.01393
NM_198253.3(TERT):c.3184G>A (p.Ala1062Thr)	rs35719940	0.01370
NM_006231.4(POLE):c.91G>T (p.Ala31Ser)	rs34047482	0.01320
NM_052854.4(CREB3L1):c.454G>A (p.Ala152Thr)	rs199951144	0.01311
NM_000546.6(TP53):c.639A>G (p.Arg213=)	rs1800372	0.01275
NM_000435.3(NOTCH3):c.1487C>T (p.Pro496Leu)	rs11670799	0.01273
NM_152383.5(DIS3L2):c.1488T>C (p.His496=)	rs72998118	0.01233
NM_005236.3(ERCC4):c.2624A>G (p.Glu875Gly)	rs1800124	0.01216
NM_001844.5(COL2A1):c.2484G>C (p.Gly828=)	rs1793940	0.01213
NM_000548.5(TSC2):c.1100G>A (p.Arg367Gln)	rs1800725	0.01203
NM_022725.4(FANCF):c.959C>T (p.Pro320Leu)	rs45451294	0.01158
NM_006129.5(BMP1):c.2450T>C (p.Val817Ala)	rs80019749	0.01155
NM_025099.6(CTC1):c.1383G>A (p.Gln461=)	rs145192682	0.01148
NM_006231.4(POLE):c.2174-8G>A	rs117409343	0.01137
NM_015294.6(TRIM37):c.861-6C>T	rs145324030	0.01135
NM_001711.6(BGN):c.257A>G (p.Lys86Arg)	rs146073993	0.01131
NM_002878.4(RAD51D):c.698A>G (p.Glu233Gly)	rs28363284	0.01102
NM_001048174.2(MUTYH):c.1517G>A (p.Arg506Gln)	rs3219497	0.01092
NM_000264.5(PTCH1):c.2199A>G (p.Ser733=)	rs2227970	0.01091
NM_000271.5(NPC1):c.709C>T (p.Pro237Ser)	rs80358251	0.01055
NM_004260.4(RECQL4):c.161A>G (p.Gln54Arg)	rs35198096	0.01041
NM_003072.5(SMARCA4):c.1114T>C (p.Tyr372His)	rs140192268	0.01034
NM_003924.4(PHOX2B):c.552C>T (p.Ser184=)	rs17885216	0.01029
NM_001288705.3(CSF1R):c.1237G>A (p.Gly413Ser)	rs34951517	0.00996
NM_001457.4(FLNB):c.6017A>G (p.Lys2006Arg)	rs62621996	0.00994
NM_000546.6(TP53):c.108G>A (p.Pro36=)	rs1800370	0.00974
NM_032444.4(SLX4):c.1153C>A (p.Pro385Thr)	rs115694169	0.00968
NM_014822.4(SEC24D):c.653C>G (p.Ala218Gly)	rs35392900	0.00928
NM_014822.4(SEC24D):c.1576C>T (p.Leu526Phe)	rs141180741	0.00908
NM_001040108.2(MLH3):c.8A>G (p.Lys3Arg)	rs114829239	0.00905
NM_001999.4(FBN2):c.1466-5C>T	rs28763952	0.00887
NM_001114753.3(ENG):c.1374A>G (p.Pro458=)	rs34828244	0.00879
NM_004629.2(FANCG):c.1538G>A (p.Arg513Gln)	rs17885240	0.00863
NM_016734.3(PAX5):c.964G>A (p.Ala322Thr)	rs34810717	0.00861
NM_139057.4(ADAMTS17):c.1651G>A (p.Ala551Thr)	rs61754841	0.00851
NM_001853.4(COL9A3):c.308G>A (p.Arg103Gln)	rs142639450	0.00847
NM_000088.4(COL1A1):c.1615-4C>A	rs41316657	0.00846
NM_001853.4(COL9A3):c.520-6C>T	rs45476191	0.00844
NM_002775.5(HTRA1):c.59C>T (p.Ala20Val)	rs369149111	0.00841
NM_002609.4(PDGFRB):c.1033C>T (p.Pro345Ser)	rs2229558	0.00834
NM_020937.4(FANCM):c.5224A>G (p.Ile1742Val)	rs143662421	0.00824
NM_000478.6(ALPL):c.455G>A (p.Arg152His)	rs149344982	0.00814
NM_003072.5(SMARCA4):c.4768+15G>C	rs113131294	0.00813
NM_000428.3(LTBP2):c.1553G>T (p.Ser518Ile)	rs137854857	0.00812
NM_003332.4(TYROBP):c.163G>T (p.Val55Leu)	rs77782321	0.00810
NM_005633.4(SOS1):c.1964C>T (p.Pro655Leu)	rs56219475	0.00787
NM_001999.4(FBN2):c.3166G>T (p.Ala1056Ser)	rs28763945	0.00784
NM_000428.3(LTBP2):c.4769T>C (p.Val1590Ala)	rs139932140	0.00769
NM_152296.5(ATP1A3):c.2487G>A (p.Pro829=)	rs45606534	0.00759
NM_017617.5(NOTCH1):c.3780G>C (p.Val1260=)	rs201354526	0.00754
NM_022356.4(P3H1):c.611C>A (p.Pro204His)	rs77208721	0.00751
NM_001288705.3(CSF1R):c.2709C>T (p.Phe903=)	rs41287094	0.00742
NM_001844.5(COL2A1):c.213C>T (p.Asp71=)	rs112469769	0.00730
NM_018965.4(TREM2):c.185G>A (p.Arg62His)	rs143332484	0.00714
NM_001276270.2(MBD4):c.1073T>C (p.Ile358Thr)	rs2307298	0.00713
NM_001113378.2(FANCI):c.1813C>T (p.Leu605Phe)	rs117125761	0.00708
NM_002691.4(POLD1):c.88C>T (p.Arg30Trp)	rs3218772	0.00706
NM_003002.4(SDHD):c.34G>A (p.Gly12Ser)	rs34677591	0.00706
NM_177438.3(DICER1):c.4206+17del	rs746189044	0.00689
NM_032444.4(SLX4):c.2924C>T (p.Pro975Leu)	rs114472821	0.00679
NM_000302.4(PLOD1):c.1141G>A (p.Val381Met)	rs2230896	0.00668
NM_000142.5(FGFR3):c.1076-13C>T	rs114754024	0.00661
NM_000791.4(DHFR):c.-259C>T	rs6151597	0.00658
NM_005633.4(SOS1):c.1074+5G>C	rs145155424	0.00655
NM_058216.3(RAD51C):c.859A>G (p.Thr287Ala)	rs28363317	0.00653
NM_003738.5(PTCH2):c.1080G>T (p.Val360=)	rs11573579	0.00649
NM_016169.4(SUFU):c.1018G>T (p.Ala340Ser)	rs34135067	0.00646
NM_006059.4(LAMC3):c.146A>G (p.Gln49Arg)	rs201962705	0.00645
NM_053025.4(MYLK):c.2101G>A (p.Ala701Thr)	rs142835596	0.00637
NM_003332.4(TYROBP):c.94+10G>C	rs55746266	0.00630
NM_000071.3(CBS):c.1145+7C>T	rs201158177	0.00620
NM_000071.3(CBS):c.573G>A (p.Thr191=)	rs73906420	0.00615
NM_000051.4(ATM):c.5793T>C (p.Ala1931=)	rs3092910	0.00608
NM_001048174.2(MUTYH):c.1347G>C (p.Thr449=)	rs74318065	0.00596
NM_000038.6(APC):c.1959G>A (p.Arg653=)	rs72541809	0.00583
NM_007356.3(LAMB4):c.350G>C (p.Arg117Thr)	rs149874137	0.00583
NM_001999.4(FBN2):c.3762C>T (p.Asp1254=)	rs2279582	0.00570
NM_014822.4(SEC24D):c.578C>T (p.Pro193Leu)	rs6844109	0.00569
NM_000135.4(FANCA):c.2574C>G (p.Ser858Arg)	rs17233141	0.00567
NM_012200.4(B3GAT3):c.821C>A (p.Thr274Asn)	rs112223093	0.00560
NM_000051.4(ATM):c.6088A>G (p.Ile2030Val)	rs145847315	0.00517
NM_058216.3(RAD51C):c.572-17G>T	rs193023469	0.00513
NM_000136.3(FANCC):c.77C>T (p.Ser26Phe)	rs1800361	0.00511
NM_001854.4(COL11A1):c.2578T>A (p.Phe860Ile)	rs141548164	0.00498
NM_001288705.3(CSF1R):c.282C>T (p.Ser94=)	rs41287102	0.00495
NM_017849.4(TMEM127):c.409+7C>T	rs189327749	0.00487
NM_000142.5(FGFR3):c.663G>A (p.Ser221=)	rs114421370	0.00485
NM_004370.6(COL12A1):c.9083G>A (p.Arg3028His)	rs41266761	0.00484
NM_018112.3(TMEM38B):c.113-7A>G	rs186864213	0.00484
NM_003000.3(SDHB):c.24C>T (p.Ser8=)	rs148738139	0.00461
NM_012186.3(FOXE3):c.587G>C (p.Gly196Ala)	rs281865461	0.00458
NM_001844.5(COL2A1):c.1221C>T (p.Ser407=)	rs150865922	0.00456
NM_024675.4(PALB2):c.2794G>A (p.Val932Met)	rs45624036	0.00449
NM_004656.4(BAP1):c.2057-4G>T	rs149499021	0.00433
NM_004260.4(RECQL4):c.1090G>A (p.Val364Met)	rs144637135	0.00427
NM_001999.4(FBN2):c.6615C>T (p.Asp2205=)	rs28763931	0.00422
NM_000245.4(MET):c.504G>T (p.Glu168Asp)	rs55985569	0.00420
NM_030957.4(ADAMTS10):c.217G>A (p.Glu73Lys)	rs61750006	0.00419
NM_006218.4(PIK3CA):c.2298T>G (p.Leu766=)	rs116164892	0.00404
NM_001042492.3(NF1):c.528T>A (p.Asp176Glu)	rs112306990	0.00398
NM_033305.3(VPS13A):c.5884C>T (p.Arg1962Cys)	rs149694033	0.00397
NM_004655.4(AXIN2):c.1410C>T (p.His470=)	rs149483825	0.00394
NM_000138.5(FBN1):c.306C>T (p.Cys102=)	rs25388	0.00372
NM_000051.4(ATM):c.5497-15G>C	rs3092828	0.00363
NM_000135.4(FANCA):c.4249C>G (p.His1417Asp)	rs17227403	0.00362
NM_001114753.3(ENG):c.120C>T (p.Gly40=)	rs41522944	0.00355
NM_058216.3(RAD51C):c.376G>A (p.Ala126Thr)	rs61758784	0.00349
NM_000455.5(STK11):c.1062C>G (p.Phe354Leu)	rs59912467	0.00348
NM_000484.4(APP):c.2124C>T (p.Gly708=)	rs148888161	0.00348
NM_000057.4(BLM):c.893C>T (p.Thr298Met)	rs28384991	0.00346
NM_182943.3(PLOD2):c.652A>G (p.Ile218Val)	rs145809663	0.00344
NM_000142.5(FGFR3):c.1535-8G>T	rs111460786	0.00332
NM_000142.5(FGFR3):c.1014C>T (p.Thr338=)	rs4647928	0.00328
NM_001999.4(FBN2):c.4141C>A (p.His1381Asn)	rs78727187	0.00327
NM_006231.4(POLE):c.4259C>T (p.Ala1420Val)	rs41561818	0.00325
NM_020975.6(RET):c.166C>A (p.Leu56Met)	rs145633958	0.00310
NM_001042492.3(NF1):c.5235G>A (p.Lys1745=)	rs17887014	0.00305
NM_032043.3(BRIP1):c.577G>A (p.Val193Ile)	rs4988346	0.00305
NM_004484.4(GPC3):c.1167-8T>C	rs182950534	0.00303
NM_032444.4(SLX4):c.3857C>T (p.Ala1286Val)	rs149011965	0.00302
NM_004655.4(AXIN2):c.1530G>A (p.Thr510=)	rs141014640	0.00299
NM_025077.4(TOE1):c.-45G>A	rs2275602	0.00299
NM_003238.6(TGFB2):c.272G>A (p.Arg91His)	rs10482721	0.00297
NM_022166.4(XYLT1):c.1154C>T (p.Pro385Leu)	rs36098987	0.00293
NM_000038.6(APC):c.3165A>T (p.Ile1055=)	rs61734287	0.00286
NM_000264.5(PTCH1):c.109G>C (p.Gly37Arg)	rs199976372	0.00281
NM_000141.5(FGFR2):c.170C>T (p.Ser57Leu)	rs56226109	0.00271
NM_000088.4(COL1A1):c.1984-5C>A	rs66592376	0.00249
NM_001457.4(FLNB):c.4222+8A>G	rs190025781	0.00248
NM_000051.4(ATM):c.2921+19dup	rs56112367	0.00245
NM_000089.4(COL1A2):c.594+5A>T	rs200744314	0.00220
NM_002474.3(MYH11):c.3652-6C>T	rs193922630	0.00219
NM_000435.3(NOTCH3):c.4552C>A (p.Leu1518Met)	rs141320511	0.00217
NM_002474.3(MYH11):c.3928G>A (p.Val1310Met)	rs7196804	0.00216
NM_001999.4(FBN2):c.829G>A (p.Val277Ile)	rs146849637	0.00210
NM_000484.4(APP):c.2212-11_2212-10del	rs112965435	0.00206
NM_024675.4(PALB2):c.721A>G (p.Asn241Asp)	rs113217267	0.00202
NM_004168.4(SDHA):c.1551+16C>T	rs184954254	0.00198
NM_000089.4(COL1A2):c.808G>A (p.Val270Ile)	rs368468	0.00177
NM_000314.8(PTEN):c.132C>T (p.Gly44=)	rs150651961	0.00168
NM_006361.6(HOXB13):c.251G>A (p.Gly84Glu)	rs138213197	0.00160
NM_003072.5(SMARCA4):c.859+7T>A	rs141461778	0.00138
NM_000138.5(FBN1):c.2956G>A (p.Ala986Thr)	rs112287730	0.00107
NM_024675.4(PALB2):c.1194G>A (p.Val398=)	rs61755173	0.00103
NM_024675.4(PALB2):c.909C>T (p.Leu303=)	rs145788619	0.00101
NM_213599.3(ANO5):c.692G>T (p.Gly231Val)	rs137854523	0.00098
NM_000142.5(FGFR3):c.1349C>T (p.Thr450Met)	rs56240927	0.00083
NM_005188.4(CBL):c.2269G>A (p.Ala757Thr)	rs146517083	0.00076
NM_000051.4(ATM):c.1744T>C (p.Phe582Leu)	rs2235006	0.00071
NM_013339.4(ALG6):c.257+5G>A	rs199682486	0.00065
NM_006371.5(CRTAP):c.641T>C (p.Val214Ala)	rs146124454	0.00061
NM_000135.4(FANCA):c.4036G>A (p.Ala1346Thr)	rs17227396	0.00056
NM_002615.7(SERPINF1):c.151G>A (p.Val51Met)	rs150899084	0.00047
NM_000051.4(ATM):c.1986T>C (p.Phe662=)	rs1800055	0.00046
NM_000249.4(MLH1):c.977T>C (p.Val326Ala)	rs63751049	0.00037
NM_006907.4(PYCR1):c.355C>T (p.Arg119Cys)	rs121918376	0.00014
NM_007194.4(CHEK2):c.444+1G>A	rs121908698	0.00009
NM_022168.4(IFIH1):c.2465G>A (p.Arg822Gln)	rs376048533	0.00003
NM_001195518.2(MICU1):c.735+1G>A	rs369915689	0.00002
NM_000051.4(ATM):c.8730C>G (p.Leu2910=)	rs551041839	0.00001
NM_000435.3(NOTCH3):c.2182C>T (p.Arg728Cys)	rs1057519101	0.00001
NM_024301.5(FKRP):c.1384C>T (p.Pro462Ser)	rs768606230	0.00001
NM_000038.6(APC):c.423-4del	rs730881230
NM_000051.4(ATM):c.1236-3del	rs34325032
NM_000051.4(ATM):c.1236-3dup	rs34325032
NM_000051.4(ATM):c.3285-9del	rs1799757
NM_000051.4(ATM):c.497-4del	rs768748099
NM_000088.4(COL1A1):c.1300-8C>G	rs41317361
NM_000088.4(COL1A1):c.1300-8C>T	rs41317361
NM_000090.4(COL3A1):c.2002C>T (p.Pro668Ser)	rs1801183
NM_000264.5(PTCH1):c.4080C>T (p.Ser1360=)	rs62637631
NM_000267.3(NF1):c.730+32dup	rs71142032
NM_000314.8(PTEN):c.802-3del	rs34003473
NM_000535.7(PMS2):c.706-4dup	rs60794673
NM_000791.4(DHFR):c.-417_-416insGCGCTGCGGCCGCTGCGG	rs758718643
NM_001018115.3(FANCD2):c.3466+36dup	rs371321981
NM_001042432.2(CLN3):c.1210C>A (p.His404Asn)	rs146610181
NM_001288705.3(CSF1R):c.2132+5C>T	rs17110908
NM_001379500.1(COL18A1):c.2829CCCAGGCCC[1] (p.938PGP[3])	rs78227997
NM_001844.5(COL2A1):c.2673C>G (p.Gly891=)	rs41272029
NM_001852.4(COL9A2):c.1604-26CTCC[7]	rs3831927
NM_001853.4(COL9A3):c.1816G>A (p.Ala606Thr)	rs142792529
NM_001853.4(COL9A3):c.685-4G>T	rs57739618
NM_001854.4(COL11A1):c.652-18_652-16dup	rs36076089
NM_001854.4(COL11A1):c.652-6del	rs36076089
NM_002693.3(POLG):c.126GCA[12] (p.Gln55dup)	rs41550117
NM_002775.5(HTRA1):c.108G>C (p.Gly36=)	rs2293870
NM_003042.4(SLC6A1):c.1084G>A (p.Gly362Arg)	rs1131691302
NM_003738.5(PTCH2):c.1864C>A (p.His622Asn)	rs11573586
NM_004260.4(RECQL4):c.212A>G (p.Glu71Gly)	rs34642881
NM_004364.5(CEBPA):c.572ACCCGC[4] (p.191HP[4])	rs762459325
NM_004612.4(TGFBR1):c.52GCG[8] (p.Ala26del)	rs11466445
NM_004655.4(AXIN2):c.1235A>G (p.Asn412Ser)	rs115931022
NM_006231.4(POLE):c.2865-4del	rs369732588
NM_006231.4(POLE):c.2865-4dup	rs369732588
NM_013275.6(ANKRD11):c.6982dup (p.Arg2328fs)	rs1555525088
NM_014915.3(ANKRD26):c.1986-3dup	rs113123391
NM_015046.7(SETX):c.6843-16dup	rs34769225
NM_015294.6(TRIM37):c.398C>T (p.Ala133Val)	rs61758100
NM_015294.6(TRIM37):c.810-3del	rs367700401
NM_018965.4(TREM2):c.287C>A (p.Thr96Lys)	rs2234253
NM_022370.4(ROBO3):c.571dup (p.Arg191fs)	rs756837590
NM_024675.4(PALB2):c.2607C>T (p.Ser869=)	rs45542234
NM_030957.3(ADAMTS10):c.3043-12_3043-6dup	rs138501563

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