NM_000036.3(AMPD1):c.860A>T (p.Lys287Ile)
|
rs34526199
|
0.02732
|
NM_003126.4(SPTA1):c.2373C>A (p.Asp791Glu)
|
rs7418956
|
0.01431
|
NM_025152.3(NUBPL):c.815-27T>C
|
rs118161496
|
0.00348
|
NM_000287.4(PEX6):c.1802G>A (p.Arg601Gln)
|
rs34324426
|
0.00294
|
NM_021870.3(FGG):c.323C>G (p.Ala108Gly)
|
rs148685782
|
0.00222
|
NM_018706.7(DHTKD1):c.2185G>A (p.Gly729Arg)
|
rs117225135
|
0.00190
|
NM_001111.5(ADAR):c.577C>G (p.Pro193Ala)
|
rs145588689
|
0.00162
|
NM_001354604.2(MITF):c.1273G>A (p.Glu425Lys)
|
rs149617956
|
0.00160
|
NM_000053.4(ATP7B):c.2972C>T (p.Thr991Met)
|
rs41292782
|
0.00155
|
NM_007254.4(PNKP):c.1029+2T>C
|
rs199919568
|
0.00115
|
NM_004130.4(GYG1):c.304G>C (p.Asp102His)
|
rs143137713
|
0.00109
|
NM_002693.3(POLG):c.2209G>C (p.Gly737Arg)
|
rs121918054
|
0.00096
|
NM_000488.4(SERPINC1):c.218C>T (p.Pro73Leu)
|
rs121909551
|
0.00092
|
NM_005609.4(PYGM):c.1094C>T (p.Ala365Val)
|
rs116135678
|
0.00074
|
NM_001243279.3(ACSF3):c.1075G>A (p.Glu359Lys)
|
rs150487794
|
0.00071
|
NM_001039141.3(TRIOBP):c.5014G>T (p.Gly1672Ter)
|
rs200045032
|
0.00054
|
NM_024079.5(ALG8):c.478+1G>A
|
rs139832787
|
0.00052
|
NM_139027.6(ADAMTS13):c.559G>C (p.Asp187His)
|
rs148312697
|
0.00043
|
NM_000492.4(CFTR):c.2249C>T (p.Pro750Leu)
|
rs140455771
|
0.00041
|
NM_000204.5(CFI):c.355G>A (p.Gly119Arg)
|
rs141853578
|
0.00040
|
NM_019616.4(F7):c.995C>T (p.Ala332Val)
|
rs36209567
|
0.00038
|
NM_000463.3(UGT1A1):c.674T>G (p.Val225Gly)
|
rs35003977
|
0.00034
|
NM_015506.3(MMACHC):c.440G>C (p.Gly147Ala)
|
rs140522266
|
0.00034
|
NM_014053.4(FLVCR1):c.1092+5G>A
|
rs556788423
|
0.00032
|
NM_024301.5(FKRP):c.898G>A (p.Val300Met)
|
rs563033008
|
0.00031
|
NM_001953.5(TYMP):c.622G>A (p.Val208Met)
|
rs121913039
|
0.00027
|
NM_007194.4(CHEK2):c.1283C>T (p.Ser428Phe)
|
rs137853011
|
0.00026
|
NM_020631.6(PLEKHG5):c.440-2A>G
|
rs144750655
|
0.00026
|
NM_015340.4(LARS2):c.1565C>A (p.Thr522Asn)
|
rs199589947
|
0.00025
|
NM_000431.4(MVK):c.829C>T (p.Arg277Cys)
|
rs104895321
|
0.00021
|
NM_080916.3(DGUOK):c.462T>A (p.Asn154Lys)
|
rs144181978
|
0.00021
|
NM_000488.4(SERPINC1):c.236G>A (p.Arg79His)
|
rs121909552
|
0.00018
|
NM_000392.5(ABCC2):c.3258+1G>A
|
rs762243203
|
0.00017
|
NM_001177316.2(SLC34A3):c.448+1G>A
|
rs150841256
|
0.00017
|
NM_015506.3(MMACHC):c.617G>A (p.Arg206Gln)
|
rs371753672
|
0.00017
|
NM_000492.4(CFTR):c.1853T>C (p.Ile618Thr)
|
rs139468767
|
0.00016
|
NM_213599.3(ANO5):c.172C>T (p.Arg58Trp)
|
rs201725369
|
0.00016
|
NM_000053.4(ATP7B):c.3886G>A (p.Asp1296Asn)
|
rs199821556
|
0.00014
|
NM_015506.3(MMACHC):c.389A>G (p.Tyr130Cys)
|
rs200094982
|
0.00014
|
NM_000071.3(CBS):c.146C>T (p.Pro49Leu)
|
rs148865119
|
0.00013
|
NM_138477.2(CDAN1):c.2015C>T (p.Pro672Leu)
|
rs120074167
|
0.00013
|
NM_006736.6(DNAJB2):c.230-2A>G
|
rs369661561
|
0.00012
|
NM_012452.3(TNFRSF13B):c.512T>G (p.Leu171Arg)
|
rs143027621
|
0.00012
|
NM_000492.4(CFTR):c.1001G>A (p.Arg334Gln)
|
rs397508137
|
0.00011
|
NM_001079866.2(BCS1L):c.550C>T (p.Arg184Cys)
|
rs121908578
|
0.00011
|
NM_002693.3(POLG):c.3139C>T (p.Arg1047Trp)
|
rs181860632
|
0.00010
|
NM_018706.7(DHTKD1):c.1309G>T (p.Glu437Ter)
|
rs138884194
|
0.00010
|
NM_000018.4(ACADVL):c.1273G>A (p.Ala425Thr)
|
rs138834083
|
0.00009
|
NM_000492.4(CFTR):c.2657+2_2657+3insA
|
rs397508414
|
0.00009
|
NM_001114134.2(EPB42):c.859C>T (p.Arg287Cys)
|
rs515726212
|
0.00009
|
NM_019616.4(F7):c.854G>A (p.Arg285His)
|
rs121964929
|
0.00009
|
NM_138477.4(CDAN1):c.156C>G (p.Phe52Leu)
|
rs80338694
|
0.00009
|
NM_000152.5(GAA):c.533G>A (p.Arg178His)
|
rs762267535
|
0.00008
|
NM_016239.4(MYO15A):c.4777G>A (p.Glu1593Lys)
|
rs376469502
|
0.00008
|
NM_019616.4(F7):c.1085C>T (p.Thr362Met)
|
rs531225271
|
0.00008
|
NM_138477.4(CDAN1):c.2140C>T (p.Arg714Trp)
|
rs80338696
|
0.00008
|
NM_000448.3(RAG1):c.1A>G (p.Met1Val)
|
rs200575481
|
0.00007
|
NM_001349206.2(LPIN1):c.1807-2A>G
|
rs533651991
|
0.00007
|
NM_003060.4(SLC22A5):c.761G>A (p.Arg254Gln)
|
rs200699819
|
0.00007
|
NM_013335.4(GMPPA):c.637_640dup (p.Trp214fs)
|
rs745806762
|
0.00007
|
NM_000053.4(ATP7B):c.-676A>G
|
rs1021025464
|
0.00006
|
NM_000053.4(ATP7B):c.1877G>C (p.Gly626Ala)
|
rs587783299
|
0.00006
|
NM_000053.4(ATP7B):c.2978C>T (p.Thr993Met)
|
rs200290721
|
0.00006
|
NM_000128.4(F11):c.1288G>A (p.Ala430Thr)
|
rs753909969
|
0.00006
|
NM_000152.5(GAA):c.1124G>A (p.Arg375His)
|
rs142752477
|
0.00006
|
NM_000190.4(HMBS):c.500G>A (p.Arg167Gln)
|
rs118204095
|
0.00006
|
NM_000404.4(GLB1):c.464T>G (p.Leu155Arg)
|
rs376710410
|
0.00006
|
NM_000501.4(ELN):c.1150+1G>A
|
rs727503030
|
0.00006
|
NM_001083961.2(WDR62):c.1480G>A (p.Gly494Arg)
|
rs587784543
|
0.00006
|
NM_024312.5(GNPTAB):c.1774G>A (p.Ala592Thr)
|
rs149390820
|
0.00006
|
NM_153700.2(STRC):c.4219-1G>A
|
rs748854592
|
0.00006
|
NM_000175.5(GPI):c.671C>T (p.Thr224Met)
|
rs61754634
|
0.00005
|
NM_000374.5(UROD):c.199G>T (p.Glu67Ter)
|
rs763086647
|
0.00005
|
NM_000431.4(MVK):c.1139A>G (p.His380Arg)
|
rs104895324
|
0.00005
|
NM_001292063.2(OTOG):c.3664C>T (p.Arg1222Ter)
|
rs560339163
|
0.00005
|
NM_004168.4(SDHA):c.1534C>T (p.Arg512Ter)
|
rs748089700
|
0.00005
|
NM_138477.4(CDAN1):c.3389C>T (p.Pro1130Leu)
|
rs80338699
|
0.00005
|
NM_138694.4(PKHD1):c.9530T>C (p.Ile3177Thr)
|
rs200511261
|
0.00005
|
NM_000053.4(ATP7B):c.3443T>C (p.Ile1148Thr)
|
rs60431989
|
0.00004
|
NM_000053.4(ATP7B):c.3451C>T (p.Arg1151Cys)
|
rs755554442
|
0.00004
|
NM_000092.5(COL4A4):c.2320G>C (p.Gly774Arg)
|
rs569681869
|
0.00004
|
NM_000108.5(DLD):c.1382G>A (p.Gly461Glu)
|
rs757275923
|
0.00004
|
NM_000155.4(GALT):c.1006A>T (p.Met336Leu)
|
rs111033810
|
0.00004
|
NM_000190.4(HMBS):c.601C>T (p.Arg201Trp)
|
rs118204109
|
0.00004
|
NM_000263.4(NAGLU):c.1558C>T (p.Arg520Trp)
|
rs992677795
|
0.00004
|
NM_000335.5(SCN5A):c.3905G>A (p.Arg1302Gln)
|
rs977717858
|
0.00004
|
NM_000431.4(MVK):c.608T>C (p.Val203Ala)
|
rs104895332
|
0.00004
|
NM_000435.3(NOTCH3):c.1732C>T (p.Arg578Cys)
|
rs769773673
|
0.00004
|
NM_001130987.2(DYSF):c.853C>T (p.Arg285Trp)
|
rs149827237
|
0.00004
|
NM_001355436.2(SPTB):c.6068C>T (p.Ala2023Val)
|
rs367841692
|
0.00004
|
NM_001370298.3(FGD4):c.1402del (p.Gln468fs)
|
rs1393673267
|
0.00004
|
NM_006949.4(STXBP2):c.1001C>T (p.Pro334Leu)
|
rs747031778
|
0.00004
|
NM_007254.4(PNKP):c.636+1G>T
|
rs1247055716
|
0.00004
|
NM_020166.5(MCCC1):c.1331G>A (p.Arg444His)
|
rs768785753
|
0.00004
|
NM_032581.4(HYCC1):c.125dup (p.Tyr42Ter)
|
rs780540757
|
0.00004
|
NM_138694.4(PKHD1):c.2414C>T (p.Pro805Leu)
|
rs199531851
|
0.00004
|
NM_000053.4(ATP7B):c.3121C>T (p.Arg1041Trp)
|
rs746485916
|
0.00003
|
NM_000182.5(HADHA):c.1793_1794del (p.His598fs)
|
rs769580842
|
0.00003
|
NM_000199.5(SGSH):c.1139A>G (p.Gln380Arg)
|
rs144143780
|
0.00003
|
NM_000487.6(ARSA):c.470C>T (p.Pro157Leu)
|
rs74315464
|
0.00003
|
NM_000492.4(CFTR):c.3468G>A (p.Leu1156=)
|
rs139729994
|
0.00003
|
NM_000527.5(LDLR):c.1474G>C (p.Asp492His)
|
rs373646964
|
0.00003
|
NM_001114753.3(ENG):c.1134G>A (p.Ala378=)
|
rs1329127701
|
0.00003
|
NM_001267550.2(TTN):c.89197+1G>C
|
rs1131691873
|
0.00003
|
NM_003126.4(SPTA1):c.781T>C (p.Ser261Pro)
|
rs121918636
|
0.00003
|
NM_005609.4(PYGM):c.2352C>A (p.Cys784Ter)
|
rs1057517001
|
0.00003
|
NM_138694.4(PKHD1):c.1123C>T (p.Arg375Trp)
|
rs376040501
|
0.00003
|
NM_000057.4(BLM):c.3439A>T (p.Lys1147Ter)
|
rs770311534
|
0.00002
|
NM_000091.5(COL4A3):c.898G>A (p.Gly300Arg)
|
rs772708743
|
0.00002
|
NM_000140.5(FECH):c.913G>T (p.Val305Phe)
|
rs765518889
|
0.00002
|
NM_000153.4(GALC):c.179C>T (p.Ala60Val)
|
rs759110815
|
0.00002
|
NM_000179.3(MSH6):c.10C>T (p.Gln4Ter)
|
rs786201042
|
0.00002
|
NM_000186.4(CFH):c.1873G>T (p.Glu625Ter)
|
rs150694809
|
0.00002
|
NM_000463.3(UGT1A1):c.992A>G (p.Gln331Arg)
|
rs72551348
|
0.00002
|
NM_000504.4(F10):c.1247A>T (p.Gln416Leu)
|
rs759544193
|
0.00002
|
NM_001355436.2(SPTB):c.4291C>T (p.Arg1431Ter)
|
rs757836263
|
0.00002
|
NM_003900.5(SQSTM1):c.1273G>A (p.Gly425Arg)
|
rs757212984
|
0.00002
|
NM_006005.3(WFS1):c.2002C>T (p.Gln668Ter)
|
rs1335308693
|
0.00002
|
NM_012434.5(SLC17A5):c.291G>A (p.Thr97=)
|
rs386833990
|
0.00002
|
NM_000030.3(AGXT):c.116_117dup (p.Ala40fs)
|
rs180177166
|
0.00001
|
NM_000037.4(ANK1):c.5497C>T (p.Arg1833Ter)
|
rs137852831
|
0.00001
|
NM_000038.6(APC):c.1867C>T (p.Arg623Trp)
|
rs730881238
|
0.00001
|
NM_000051.4(ATM):c.5825C>T (p.Ala1942Val)
|
rs730881394
|
0.00001
|
NM_000053.4(ATP7B):c.1946+6T>C
|
rs751287778
|
0.00001
|
NM_000053.4(ATP7B):c.2549C>T (p.Thr850Ile)
|
rs777629392
|
0.00001
|
NM_000053.4(ATP7B):c.2924C>A (p.Ser975Tyr)
|
rs778163447
|
0.00001
|
NM_000053.4(ATP7B):c.2953T>C (p.Cys985Arg)
|
rs193922104
|
0.00001
|
NM_000053.4(ATP7B):c.3107dup (p.Arg1038fs)
|
rs886043423
|
0.00001
|
NM_000053.4(ATP7B):c.3128T>C (p.Leu1043Pro)
|
rs1412025509
|
0.00001
|
NM_000053.4(ATP7B):c.3140A>T (p.Asp1047Val)
|
rs1395504465
|
0.00001
|
NM_000053.4(ATP7B):c.3221C>T (p.Ala1074Val)
|
rs1206016866
|
0.00001
|
NM_000053.4(ATP7B):c.3243+1G>A
|
rs748819198
|
0.00001
|
NM_000053.4(ATP7B):c.3556G>A (p.Gly1186Ser)
|
rs786204547
|
0.00001
|
NM_000053.4(ATP7B):c.3716T>G (p.Val1239Gly)
|
rs374628199
|
0.00001
|
NM_000053.4(ATP7B):c.51+4A>T
|
rs369488210
|
0.00001
|
NM_000080.4(CHRNE):c.1033-1G>C
|
rs755303686
|
0.00001
|
NM_000082.4(ERCC8):c.479C>T (p.Ala160Val)
|
rs121434325
|
0.00001
|
NM_000089.4(COL1A2):c.2701G>A (p.Gly901Ser)
|
rs72659306
|
0.00001
|
NM_000128.4(F11):c.1199C>T (p.Pro400Leu)
|
rs533335580
|
0.00001
|
NM_000128.4(F11):c.595+3A>G
|
rs933333847
|
0.00001
|
NM_000132.4(F8):c.6371A>G (p.Tyr2124Cys)
|
rs137852459
|
0.00001
|
NM_000132.4(F8):c.6622C>G (p.Gln2208Glu)
|
rs1472169963
|
0.00001
|
NM_000132.4(F8):c.6658G>C (p.Ala2220Pro)
|
rs782548763
|
0.00001
|
NM_000138.5(FBN1):c.994C>T (p.Arg332Cys)
|
rs1161109360
|
0.00001
|
NM_000151.4(G6PC1):c.757del (p.Ile253fs)
|
rs2056092619
|
0.00001
|
NM_000152.5(GAA):c.1537G>A (p.Asp513Asn)
|
rs748047271
|
0.00001
|
NM_000153.4(GALC):c.1541T>C (p.Phe514Ser)
|
rs375867319
|
0.00001
|
NM_000153.4(GALC):c.461C>A (p.Pro154His)
|
rs758557526
|
0.00001
|
NM_000153.4(GALC):c.673G>A (p.Ala225Thr)
|
rs1436074042
|
0.00001
|
NM_000155.4(GALT):c.265T>G (p.Tyr89Asp)
|
rs111033666
|
0.00001
|
NM_000155.4(GALT):c.772C>T (p.Arg258Cys)
|
rs368166217
|
0.00001
|
NM_000157.4(GBA1):c.593C>T (p.Pro198Leu)
|
rs80222298
|
0.00001
|
NM_000157.4(GBA1):c.701G>A (p.Gly234Glu)
|
rs74462743
|
0.00001
|
NM_000158.4(GBE1):c.1803+2T>C
|
rs539203557
|
0.00001
|
NM_000178.4(GSS):c.754C>T (p.Arg252Ter)
|
rs749741013
|
0.00001
|
NM_000218.3(KCNQ1):c.1085A>G (p.Lys362Arg)
|
rs12720458
|
0.00001
|
NM_000235.4(LIPA):c.1120C>T (p.His374Tyr)
|
rs367664486
|
0.00001
|
NM_000249.4(MLH1):c.207+1G>A
|
rs267607718
|
0.00001
|
NM_000256.3(MYBPC3):c.2737+5G>A
|
rs398123280
|
0.00001
|
NM_000257.4(MYH7):c.1491G>T (p.Glu497Asp)
|
rs267606911
|
0.00001
|
NM_000271.5(NPC1):c.2819C>T (p.Ser940Leu)
|
rs143124972
|
0.00001
|
NM_000298.6(PKLR):c.1116+23T>G
|
rs777806779
|
0.00001
|
NM_000298.6(PKLR):c.307del (p.Arg103fs)
|
rs1433205059
|
0.00001
|
NM_000303.3(PMM2):c.53C>G (p.Thr18Ser)
|
rs760265100
|
0.00001
|
NM_000303.3(PMM2):c.647A>G (p.Asn216Ser)
|
rs78290141
|
0.00001
|
NM_000335.5(SCN5A):c.5126C>T (p.Ser1709Leu)
|
rs137854604
|
0.00001
|
NM_000363.5(TNNI3):c.497C>T (p.Ser166Phe)
|
rs727504242
|
0.00001
|
NM_000374.5(UROD):c.424C>T (p.Arg142Ter)
|
rs780227281
|
0.00001
|
NM_000382.3(ALDH3A2):c.941_942insTAAAAGTA (p.Pro315fs)
|
rs1555534430
|
0.00001
|
NM_000388.4(CASR):c.1393C>T (p.Arg465Trp)
|
rs751217000
|
0.00001
|
NM_000404.4(GLB1):c.1699C>T (p.Gln567Ter)
|
rs1295295164
|
0.00001
|
NM_000435.3(NOTCH3):c.3062A>G (p.Tyr1021Cys)
|
rs1167405466
|
0.00001
|
NM_000454.5(SOD1):c.449T>C (p.Ile150Thr)
|
rs1424014997
|
0.00001
|
NM_000466.3(PEX1):c.1991T>C (p.Leu664Pro)
|
rs121434455
|
0.00001
|
NM_000487.6(ARSA):c.248T>C (p.Leu83Pro)
|
rs1190061000
|
0.00001
|
NM_000488.4(SERPINC1):c.449A>C (p.Gln150Pro)
|
rs765445413
|
0.00001
|
NM_000488.4(SERPINC1):c.805G>A (p.Glu269Lys)
|
rs758087836
|
0.00001
|
NM_000492.4(CFTR):c.1315C>T (p.Pro439Ser)
|
rs397508187
|
0.00001
|
NM_000492.4(CFTR):c.3083T>G (p.Met1028Arg)
|
rs397508494
|
0.00001
|
NM_000492.4(CFTR):c.3107C>A (p.Thr1036Asn)
|
rs397508498
|
0.00001
|
NM_000492.4(CFTR):c.3623G>A (p.Gly1208Asp)
|
rs746103666
|
0.00001
|
NM_000506.5(F2):c.1814_1815del (p.His605fs)
|
rs776618390
|
0.00001
|
NM_000508.3(FGA):c.112A>G (p.Arg38Gly)
|
rs121909608
|
0.00001
|
NM_000508.3(FGA):c.92G>T (p.Gly31Val)
|
rs121909605
|
0.00001
|
NM_000527.5(LDLR):c.1329G>C (p.Trp443Cys)
|
rs879254867
|
0.00001
|
NM_000527.5(LDLR):c.1414G>T (p.Asp472Tyr)
|
rs730882102
|
0.00001
|
NM_000527.5(LDLR):c.1784G>A (p.Arg595Gln)
|
rs201102492
|
0.00001
|
NM_000527.5(LDLR):c.632A>T (p.His211Leu)
|
rs879254603
|
0.00001
|
NM_000552.5(VWF):c.3613C>T (p.Arg1205Cys)
|
rs373787920
|
0.00001
|
NM_000642.3(AGL):c.1199T>C (p.Leu400Pro)
|
rs1275707003
|
0.00001
|
NM_001005373.4(LRSAM1):c.2019dup (p.Glu674fs)
|
rs1315010600
|
0.00001
|
NM_001040108.2(MLH3):c.3643+2T>C
|
rs1555343301
|
0.00001
|
NM_001114753.3(ENG):c.1309C>T (p.Arg437Trp)
|
rs1434169817
|
0.00001
|
NM_001122764.3(PPOX):c.1303C>T (p.Gln435Ter)
|
rs754313121
|
0.00001
|
NM_001164508.2(NEB):c.11719C>T (p.Gln3907Ter)
|
rs377182240
|
0.00001
|
NM_001267550.2(TTN):c.45307C>T (p.Arg15103Ter)
|
rs397517580
|
0.00001
|
NM_001355436.2(SPTB):c.6070T>A (p.Trp2024Arg)
|
rs1225539653
|
0.00001
|
NM_002055.5(GFAP):c.1154C>G (p.Ser385Cys)
|
rs797044590
|
0.00001
|
NM_002113.3(CFHR1):c.869T>C (p.Leu290Ser)
|
rs200832275
|
0.00001
|
NM_002633.3(PGM1):c.1264C>T (p.Arg422Trp)
|
rs748019294
|
0.00001
|
NM_002693.3(POLG):c.1816dup (p.Thr606fs)
|
rs1319481399
|
0.00001
|
NM_003000.3(SDHB):c.689G>A (p.Arg230His)
|
rs587782604
|
0.00001
|
NM_003119.4(SPG7):c.759-2A>G
|
rs770299071
|
0.00001
|
NM_003742.4(ABCB11):c.22C>T (p.Arg8Ter)
|
rs886043986
|
0.00001
|
NM_004722.4(AP4M1):c.10C>T (p.Gln4Ter)
|
rs777220438
|
0.00001
|
NM_005055.5(RAPSN):c.493G>A (p.Val165Met)
|
rs761584017
|
0.00001
|
NM_005876.5(SPEG):c.6011del (p.Ser2004fs)
|
rs1392086265
|
0.00001
|
NM_005908.4(MANBA):c.731C>G (p.Ser244Ter)
|
rs1553948361
|
0.00001
|
NM_006005.3(WFS1):c.2194C>T (p.Arg732Cys)
|
rs71526458
|
0.00001
|
NM_007126.5(VCP):c.1460G>A (p.Arg487His)
|
rs767379602
|
0.00001
|
NM_014141.6(CNTNAP2):c.3283C>T (p.Arg1095Ter)
|
rs771533907
|
0.00001
|
NM_014845.6(FIG4):c.2547-1G>A
|
rs769858739
|
0.00001
|
NM_015214.3(DDHD2):c.400C>T (p.Gln134Ter)
|
rs772199158
|
0.00001
|
NM_016204.4(GDF2):c.329G>A (p.Arg110Gln)
|
rs1443463485
|
0.00001
|
NM_017837.4(PIGV):c.55C>T (p.Arg19Cys)
|
rs759988046
|
0.00001
|
NM_018127.7(ELAC2):c.88G>T (p.Glu30Ter)
|
rs767879725
|
0.00001
|
NM_019616.4(F7):c.517T>C (p.Cys173Arg)
|
rs372577568
|
0.00001
|
NM_020376.4(PNPLA2):c.1266G>A (p.Trp422Ter)
|
rs944560685
|
0.00001
|
NM_020975.6(RET):c.1996A>G (p.Lys666Glu)
|
rs143795581
|
0.00001
|
NM_024306.5(FA2H):c.589C>T (p.Arg197Ter)
|
rs1463651673
|
0.00001
|
NM_024577.4(SH3TC2):c.2642A>G (p.Asn881Ser)
|
rs80338930
|
0.00001
|
NM_053013.4(ENO3):c.157del (p.Asp53fs)
|
rs760194274
|
0.00001
|
NM_138413.4(HOGA1):c.123del (p.Pro41_Val42insTer)
|
rs1419840309
|
0.00001
|
NM_139027.6(ADAMTS13):c.2068G>A (p.Ala690Thr)
|
rs374840594
|
0.00001
|
NM_144997.7(FLCN):c.1522_1524del (p.Lys508del)
|
rs398124529
|
0.00001
|
NM_198253.3(TERT):c.2011C>T (p.Arg671Trp)
|
rs1060503011
|
0.00001
|
NM_198253.3(TERT):c.250G>A (p.Val84Met)
|
rs867069017
|
0.00001
|
NM_198253.3(TERT):c.2639C>T (p.Ala880Val)
|
rs1748613384
|
0.00001
|
G6PD NARA
|
rs587776730
|
|
NM_000018.4(ACADVL):c.1078-1G>C
|
|
|
NM_000020.3(ACVRL1):c.1046T>C (p.Leu349Pro)
|
rs765895870
|
|
NM_000020.3(ACVRL1):c.1048+1G>A
|
rs2139074368
|
|
NM_000020.3(ACVRL1):c.1246G>A (p.Gly416Ser)
|
rs1592225112
|
|
NM_000020.3(ACVRL1):c.1415G>A (p.Trp472Ter)
|
rs1555154144
|
|
NM_000020.3(ACVRL1):c.199C>G (p.Arg67Gly)
|
rs1085307405
|
|
NM_000020.3(ACVRL1):c.546C>A (p.Cys182Ter)
|
rs2139068677
|
|
NM_000020.3(ACVRL1):c.626-3C>G
|
rs1555152899
|
|
NM_000020.3(ACVRL1):c.698C>T (p.Ser233Leu)
|
rs762773076
|
|
NM_000020.3(ACVRL1):c.706G>A (p.Glu236Lys)
|
rs1592223490
|
|
NM_000023.4(SGCA):c.409G>C (p.Glu137Gln)
|
rs372210292
|
|
NM_000023.4(SGCA):c.795del (p.Asp266fs)
|
rs1438874821
|
|
NM_000027.4(AGA):c.755G>A (p.Gly252Glu)
|
rs386833433
|
|
NM_000032.5(ALAS2):c.1646_1664dup (p.Cys555Ter)
|
|
|
NM_000033.4(ABCD1):c.871GAG[1] (p.Glu292del)
|
rs387906496
|
|
NM_000037.4(ANK1):c.1411C>T (p.Gln471Ter)
|
|
|
NM_000037.4(ANK1):c.1412del (p.Gln471fs)
|
rs2150635565
|
|
NM_000037.4(ANK1):c.1801-17G>A
|
rs786205243
|
|
NM_000037.4(ANK1):c.1880C>G (p.Ser627Ter)
|
|
|
NM_000037.4(ANK1):c.2014del (p.Leu672fs)
|
rs2150616471
|
|
NM_000037.4(ANK1):c.2267del (p.Asn756fs)
|
|
|
NM_000037.4(ANK1):c.2407C>T (p.Arg803Ter)
|
|
|
NM_000037.4(ANK1):c.2960+1G>A
|
rs2150596703
|
|
NM_000037.4(ANK1):c.3186C>G (p.Tyr1062Ter)
|
rs1247598917
|
|
NM_000037.4(ANK1):c.3188del (p.Phe1063fs)
|
rs2150593448
|
|
NM_000037.4(ANK1):c.3235G>T (p.Glu1079Ter)
|
rs368279119
|
|
NM_000037.4(ANK1):c.3386G>T (p.Ser1129Ile)
|
rs2150592257
|
|
NM_000037.4(ANK1):c.409C>T (p.Gln137Ter)
|
rs2150661792
|
|
NM_000037.4(ANK1):c.4694del (p.Asp1565fs)
|
rs2150563288
|
|
NM_000037.4(ANK1):c.4813del (p.Ala1605fs)
|
rs2150563125
|
|
NM_000037.4(ANK1):c.4977del (p.Thr1660fs)
|
|
|
NM_000037.4(ANK1):c.5218G>T (p.Glu1740Ter)
|
|
|
NM_000037.4(ANK1):c.533del (p.His178fs)
|
|
|
NM_000037.4(ANK1):c.5401G>T (p.Glu1801Ter)
|
|
|
NM_000037.4(ANK1):c.682del (p.Arg228fs)
|
|
|
NM_000037.4(ANK1):c.911_912del (p.Asn304fs)
|
rs2150644706
|
|
NM_000038.6(APC):c.1045C>T (p.Gln349Ter)
|
rs863225307
|
|
NM_000038.6(APC):c.1229dup (p.Leu410fs)
|
rs863225308
|
|
NM_000038.6(APC):c.135+2T>C
|
rs1554067164
|
|
NM_000038.6(APC):c.1433T>G (p.Leu478Ter)
|
rs863225314
|
|
NM_000038.6(APC):c.1494del (p.Arg498fs)
|
rs1554081719
|
|
NM_000038.6(APC):c.1525_1527del (p.Thr509del)
|
rs863225315
|
|
NM_000038.6(APC):c.1549-1G>A
|
rs863225316
|
|
NM_000038.6(APC):c.1609del (p.Ser537fs)
|
rs863225317
|
|
NM_000038.6(APC):c.1626+1G>A
|
rs1554081934
|
|
NM_000038.6(APC):c.1866C>A (p.Tyr622Ter)
|
rs876658355
|
|
NM_000038.6(APC):c.1892_1904delinsAAT (p.Ile631fs)
|
rs863225319
|
|
NM_000038.6(APC):c.1997_1999delinsA (p.Leu666_Gln667delinsTer)
|
rs863225323
|
|
NM_000038.6(APC):c.207del (p.Glu70fs)
|
rs863225325
|
|
NM_000038.6(APC):c.2183del (p.Asn728fs)
|
rs863225326
|
|
NM_000038.6(APC):c.2186del (p.Leu729fs)
|
rs2149862736
|
|
NM_000038.6(APC):c.220+2T>A
|
rs587781809
|
|
NM_000038.6(APC):c.2260del (p.Val754fs)
|
rs2149864798
|
|
NM_000038.6(APC):c.2343del (p.Lys782fs)
|
rs1554084080
|
|
NM_000038.6(APC):c.2624dup (p.Arg876fs)
|
rs863225330
|
|
NM_000038.6(APC):c.2759del (p.Asn920fs)
|
rs863225331
|
|
NM_000038.6(APC):c.2825del (p.Asn942fs)
|
rs1554084511
|
|
NM_000038.6(APC):c.2886del (p.Asp962fs)
|
rs863225334
|
|
NM_000038.6(APC):c.2926dup (p.Arg976fs)
|
rs1554084587
|
|
NM_000038.6(APC):c.301G>T (p.Gly101Ter)
|
rs863225335
|
|
NM_000038.6(APC):c.3054_3063del (p.Asp1018fs)
|
rs863225336
|
|
NM_000038.6(APC):c.3079dup (p.Tyr1027fs)
|
rs863225337
|
|
NM_000038.6(APC):c.3133C>T (p.Gln1045Ter)
|
rs2149885099
|
|
NM_000038.6(APC):c.3135_3136del (p.Gln1045_Asn1046insTer)
|
rs863225339
|
|
NM_000038.6(APC):c.3139G>T (p.Glu1047Ter)
|
rs568149455
|
|
NM_000038.6(APC):c.3298_3301del (p.Ser1100fs)
|
rs863225341
|
|
NM_000038.6(APC):c.3304_3307del (p.Tyr1102fs)
|
rs863225342
|
|
NM_000038.6(APC):c.3535dup (p.Tyr1179fs)
|
rs863225343
|
|
NM_000038.6(APC):c.3578del (p.Gln1193fs)
|
rs1554085131
|
|
NM_000038.6(APC):c.3602C>A (p.Ser1201Ter)
|
rs730881247
|
|
NM_000038.6(APC):c.3670_3671dup (p.Asn1224fs)
|
rs1561586671
|
|
NM_000038.6(APC):c.3785dup (p.Tyr1262Ter)
|
rs863225345
|
|
NM_000038.6(APC):c.3791dup (p.Glu1265fs)
|
rs863225346
|
|
NM_000038.6(APC):c.3815C>G (p.Ser1272Ter)
|
rs863225348
|
|
NM_000038.6(APC):c.3939_3940dup (p.Arg1314fs)
|
rs863225350
|
|
NM_000038.6(APC):c.4075A>T (p.Lys1359Ter)
|
rs863225352
|
|
NM_000038.6(APC):c.4166del (p.Ser1389fs)
|
rs863225353
|
|
NM_000038.6(APC):c.4495G>T (p.Gly1499Ter)
|
rs756912930
|
|
NM_000038.6(APC):c.4616C>A (p.Ser1539Ter)
|
rs1554086008
|
|
NM_000038.6(APC):c.4634C>G (p.Ser1545Ter)
|
rs863225356
|
|
NM_000038.6(APC):c.4647del (p.Glu1550fs)
|
rs879254283
|
|
NM_000038.6(APC):c.4655_4656del (p.Glu1552fs)
|
rs1765732008
|
|
NM_000038.6(APC):c.4733_4734del (p.Cys1578fs)
|
rs863225359
|
|
NM_000038.6(APC):c.475dup (p.Tyr159fs)
|
rs863225361
|
|
NM_000038.6(APC):c.4793_4800delinsTGG (p.Ala1598fs)
|
rs886039641
|
|
NM_000038.6(APC):c.5005_5008del (p.Ala1670fs)
|
rs1554086363
|
|
NM_000038.6(APC):c.5145del (p.Asp1715fs)
|
rs863225363
|
|
NM_000038.6(APC):c.524_531+4del
|
rs863225364
|
|
NM_000038.6(APC):c.531+2T>A
|
rs863225365
|
|
NM_000038.6(APC):c.531+2T>C
|
rs863225365
|
|
NM_000038.6(APC):c.5804dup (p.Ser1936fs)
|
rs863225367
|
|
NM_000038.6(APC):c.5936del (p.Asn1979fs)
|
rs863225368
|
|
NM_000038.6(APC):c.5996del (p.Pro1999fs)
|
rs863225369
|
|
NM_000038.6(APC):c.6281_6282del (p.Pro2094fs)
|
rs1554087314
|
|
NM_000038.6(APC):c.635_636dup (p.Arg213fs)
|
rs1561485947
|
|
NM_000038.6(APC):c.677del (p.Lys226fs)
|
rs863225371
|
|
NM_000038.6(APC):c.7270_7273del (p.Ser2424fs)
|
rs1469278346
|
|
NM_000038.6(APC):c.7511G>A (p.Trp2504Ter)
|
rs755046558
|
|
NM_000038.6(APC):c.800del (p.Gly267fs)
|
rs863225372
|
|
NM_000038.6(APC):c.935dup (p.Glu313fs)
|
rs587781451
|
|
NM_000051.4(ATM):c.4741dup (p.Ile1581fs)
|
rs864622164
|
|
NM_000051.4(ATM):c.6007-1G>A
|
rs1365726807
|
|
NM_000051.4(ATM):c.8395_8404del (p.Phe2799fs)
|
rs786202800
|
|
NM_000053.4(ATP7B):c.1924G>C (p.Asp642His)
|
rs72552285
|
|
NM_000053.4(ATP7B):c.2188dup (p.Asp730fs)
|
rs1958503241
|
|
NM_000053.4(ATP7B):c.2299C>A (p.Pro767Thr)
|
rs2139531503
|
|
NM_000053.4(ATP7B):c.2692C>T (p.Gln898Ter)
|
rs1957898187
|
|
NM_000053.4(ATP7B):c.2755C>T (p.Arg919Trp)
|
rs121907993
|
|
NM_000053.4(ATP7B):c.3008C>T (p.Ala1003Val)
|
rs775055397
|
|
NM_000053.4(ATP7B):c.3029A>C (p.Lys1010Thr)
|
rs747584649
|
|
NM_000053.4(ATP7B):c.3030G>C (p.Lys1010Asn)
|
|
|
NM_000053.4(ATP7B):c.3089G>A (p.Gly1030Asp)
|
rs2138958110
|
|
NM_000053.4(ATP7B):c.3203A>G (p.Glu1068Gly)
|
rs1555286478
|
|
NM_000053.4(ATP7B):c.3317T>A (p.Val1106Asp)
|
rs775541743
|
|
NM_000053.4(ATP7B):c.3446G>C (p.Gly1149Ala)
|
rs1566462533
|
|
NM_000053.4(ATP7B):c.3529C>T (p.Gln1177Ter)
|
rs1057516479
|
|
NM_000053.4(ATP7B):c.3664G>A (p.Asp1222Asn)
|
rs2138663905
|
|
NM_000053.4(ATP7B):c.3743del (p.Lys1248fs)
|
|
|
NM_000053.4(ATP7B):c.3965G>C (p.Arg1322Pro)
|
|
|
NM_000053.4(ATP7B):c.4152dup (p.Glu1385Ter)
|
|
|
NM_000053.4(ATP7B):c.778dup (p.Gln260fs)
|
rs786204570
|
|
NM_000059.4(BRCA2):c.101_102insT (p.Glu34fs)
|
|
|
NM_000059.4(BRCA2):c.7826G>T (p.Gly2609Val)
|
rs80359009
|
|
NM_000059.4(BRCA2):c.7964A>G (p.Gln2655Arg)
|
rs80359024
|
|
NM_000059.4(BRCA2):c.8488-1G>A
|
rs397507404
|
|
NM_000059.4(BRCA2):c.8975_9100del (p.Pro2992_Thr3033del)
|
rs80359736
|
|
NM_000059.4(BRCA2):c.9004G>A (p.Glu3002Lys)
|
rs80359152
|
|
NM_000059.4(BRCA2):c.9678T>A (p.Tyr3226Ter)
|
rs2073049381
|
|
NM_000064.4(C3):c.600-1G>T
|
|
|
NM_000080.4(CHRNE):c.794C>T (p.Pro265Leu)
|
rs759226183
|
|
NM_000088.4(COL1A1):c.1219G>A (p.Gly407Ser)
|
|
|
NM_000088.4(COL1A1):c.696+1G>C
|
|
|
NM_000088.4(COL1A1):c.976G>C (p.Gly326Arg)
|
rs72645355
|
|
NM_000089.4(COL1A2):c.1349_1350+2del
|
rs2115899670
|
|
NM_000089.4(COL1A2):c.2827G>A (p.Gly943Arg)
|
rs193922165
|
|
NM_000089.4(COL1A2):c.3196G>A (p.Gly1066Ser)
|
rs1269193853
|
|
NM_000090.4(COL3A1):c.2092_2098delinsACTGTT (p.Ala698fs)
|
|
|
NM_000090.4(COL3A1):c.2104G>C (p.Gly702Arg)
|
rs2153503006
|
|
NM_000090.4(COL3A1):c.2105G>T (p.Gly702Val)
|
rs587779512
|
|
NM_000090.4(COL3A1):c.2305CCT[1] (p.Pro770del)
|
rs2153503227
|
|
NM_000090.4(COL3A1):c.2491G>C (p.Gly831Arg)
|
rs2153503377
|
|
NM_000090.4(COL3A1):c.530G>T (p.Gly177Val)
|
rs2153501733
|
|
NM_000090.4(COL3A1):c.638G>A (p.Gly213Asp)
|
rs2153501864
|
|
NM_000093.5(COL5A1):c.3526C>T (p.Gln1176Ter)
|
|
|
NM_000093.5(COL5A1):c.4065del (p.Ala1356fs)
|
|
|
NM_000093.5(COL5A1):c.4820del (p.Gly1607fs)
|
|
|
NM_000093.5(COL5A1):c.655-1G>C
|
rs1554787526
|
|
NM_000098.3(CPT2):c.1119_1120del (p.Trp374fs)
|
rs2100273567
|
|
NM_000098.3(CPT2):c.347G>A (p.Trp116Ter)
|
rs1645411052
|
|
NM_000128.4(F11):c.1480+1G>T
|
|
|
NM_000128.4(F11):c.155dup (p.Tyr52Ter)
|
rs1554081886
|
|
NM_000129.4(F13A1):c.826C>T (p.Leu276Phe)
|
|
|
NM_000132.4(F8):c.*56G>T
|
rs2072483147
|
|
NM_000132.4(F8):c.1327_1339del (p.Lys443fs)
|
|
|
NM_000132.4(F8):c.1331A>C (p.Lys444Thr)
|
|
|
NM_000132.4(F8):c.1462G>C (p.Ala488Pro)
|
|
|
NM_000132.4(F8):c.1475A>G (p.Tyr492Cys)
|
|
|
NM_000132.4(F8):c.5101G>A (p.Glu1701Lys)
|
|
|
NM_000132.4(F8):c.5405A>G (p.Tyr1802Cys)
|
|
|
NM_000132.4(F8):c.566C>T (p.Ser189Leu)
|
rs137852367
|
|
NM_000132.4(F8):c.5813A>G (p.His1938Arg)
|
rs1603432981
|
|
NM_000132.4(F8):c.5816C>A (p.Ala1939Glu)
|
|
|
NM_000132.4(F8):c.602-11T>C
|
|
|
NM_000132.4(F8):c.6305G>A (p.Gly2102Asp)
|
rs2148583736
|
|
NM_000132.4(F8):c.6326G>C (p.Arg2109Pro)
|
|
|
NM_000132.4(F8):c.6400T>C (p.Tyr2134His)
|
|
|
NM_000133.4(F9):c.1328T>C (p.Ile443Thr)
|
rs137852268
|
|
NM_000133.4(F9):c.478G>C (p.Gly160Arg)
|
rs1927768022
|
|
NM_000135.4(FANCA):c.443del (p.Leu148fs)
|
|
|
NM_000137.4(FAH):c.314+1G>A
|
rs1057516408
|
|
NM_000138.5(FBN1):c.1468G>C (p.Asp490His)
|
|
|
NM_000138.5(FBN1):c.2168A>G (p.Asp723Gly)
|
rs137854463
|
|
NM_000138.5(FBN1):c.2677G>T (p.Asp893Tyr)
|
rs193922193
|
|
NM_000138.5(FBN1):c.3137A>G (p.Asn1046Ser)
|
rs2141295239
|
|
NM_000138.5(FBN1):c.4211-2A>C
|
|
|
NM_000138.5(FBN1):c.4504T>C (p.Cys1502Arg)
|
rs2141273019
|
|
NM_000138.5(FBN1):c.4538G>A (p.Cys1513Tyr)
|
rs1555397204
|
|
NM_000138.5(FBN1):c.4936T>A (p.Cys1646Ser)
|
rs1064793115
|
|
NM_000138.5(FBN1):c.5296+5G>A
|
rs1566902515
|
|
NM_000138.5(FBN1):c.539-2A>G
|
rs2141358521
|
|
NM_000138.5(FBN1):c.5960G>A (p.Gly1987Asp)
|
rs2043140093
|
|
NM_000138.5(FBN1):c.6695G>C (p.Cys2232Ser)
|
rs1060501054
|
|
NM_000138.5(FBN1):c.7540G>A (p.Gly2514Arg)
|
rs363811
|
|
NM_000140.5(FECH):c.913-2A>G
|
|
|
NM_000143.4(FH):c.668_669del (p.Lys223fs)
|
rs886039364
|
|
NM_000152.5(GAA):c.2647-20T>G
|
rs1555603208
|
|
NM_000153.4(GALC):c.293dup (p.Leu98fs)
|
rs757799254
|
|
NM_000153.4(GALC):c.349A>C (p.Met117Leu)
|
rs145580093
|
|
NM_000155.4(GALT):c.1014C>T (p.Gly338=)
|
rs111033811
|
|
NM_000155.4(GALT):c.428C>T (p.Ser143Leu)
|
rs111033697
|
|
NM_000155.4(GALT):c.434_435del (p.Pro145fs)
|
|
|
NM_000157.4(GBA1):c.1193G>A (p.Arg398Gln)
|
|
|
NM_000157.4(GBA1):c.1537G>A (p.Asp513Asn)
|
rs2148069969
|
|
NM_000157.4(GBA1):c.680_681delinsGG (p.Asn227Arg)
|
rs786200979
|
|
NM_000178.4(GSS):c.533del (p.Lys178fs)
|
rs2081485010
|
|
NM_000179.3(MSH6):c.1109T>C (p.Leu370Ser)
|
rs587779204
|
|
NM_000179.3(MSH6):c.1135A>T (p.Arg379Ter)
|
rs1432436629
|
|
NM_000179.3(MSH6):c.1135_1139del (p.Arg378_Arg379insTer)
|
rs267608077
|
|
NM_000179.3(MSH6):c.1168_1170delinsAA (p.Asp390fs)
|
rs863225398
|
|
NM_000179.3(MSH6):c.1312dup (p.Met438fs)
|
rs863225399
|
|
NM_000179.3(MSH6):c.1352del (p.Phe451fs)
|
rs869312769
|
|
NM_000179.3(MSH6):c.1483C>T (p.Arg495Ter)
|
rs587779212
|
|
NM_000179.3(MSH6):c.1883G>A (p.Trp628Ter)
|
rs863225401
|
|
NM_000179.3(MSH6):c.2061T>A (p.Cys687Ter)
|
rs267608068
|
|
NM_000179.3(MSH6):c.2095G>T (p.Glu699Ter)
|
rs1553413470
|
|
NM_000179.3(MSH6):c.260+2T>A
|
rs1553408469
|
|
NM_000179.3(MSH6):c.260+3A>G
|
rs1553408474
|
|
NM_000179.3(MSH6):c.2805_2806del (p.Asp936fs)
|
rs863225403
|
|
NM_000179.3(MSH6):c.2932C>T (p.Gln978Ter)
|
rs587781372
|
|
NM_000179.3(MSH6):c.3037_3041del (p.Lys1013fs)
|
rs587782712
|
|
NM_000179.3(MSH6):c.3108_3109del (p.Phe1037fs)
|
rs1553414519
|
|
NM_000179.3(MSH6):c.3173-1G>C
|
rs397515875
|
|
NM_000179.3(MSH6):c.3238_3239del (p.Leu1080fs)
|
rs863225406
|
|
NM_000179.3(MSH6):c.3476dup (p.Tyr1159Ter)
|
rs587782111
|
|
NM_000179.3(MSH6):c.3528_3532del (p.Leu1177fs)
|
rs863225408
|
|
NM_000179.3(MSH6):c.3626_3627del (p.Leu1209fs)
|
rs863225409
|
|
NM_000179.3(MSH6):c.3699_3702dup (p.Leu1235fs)
|
rs193922343
|
|
NM_000179.3(MSH6):c.3716_3717del (p.Ile1239fs)
|
rs1064794384
|
|
NM_000179.3(MSH6):c.3799_3800del (p.Met1267fs)
|
rs267608114
|
|
NM_000179.3(MSH6):c.3802-7_3802-4del
|
rs876661171
|
|
NM_000179.3(MSH6):c.3980_3983dup (p.Leu1330fs)
|
rs1553333738
|
|
NM_000179.3(MSH6):c.3991C>T (p.Arg1331Ter)
|
rs267608094
|
|
NM_000179.3(MSH6):c.3999dup (p.Arg1334fs)
|
rs863225418
|
|
NM_000182.5(HADHA):c.1167dup (p.Lys390Ter)
|
rs2147762308
|
|
NM_000186.4(CFH):c.158G>A (p.Arg53His)
|
|
|
NM_000186.4(CFH):c.1927G>T (p.Glu643Ter)
|
rs867229260
|
|
NM_000186.4(CFH):c.2057-1G>A
|
rs1050115425
|
|
NM_000186.4(CFH):c.3322A>T (p.Lys1108Ter)
|
rs2149117986
|
|
NM_000186.4(CFH):c.3356A>G (p.Asp1119Gly)
|
rs575109631
|
|
NM_000186.4(CFH):c.3414_3421del (p.Gln1139fs)
|
rs2149118044
|
|
NM_000186.4(CFH):c.3493+1G>A
|
rs1387205085
|
|
NM_000186.4(CFH):c.3593A>G (p.Glu1198Gly)
|
rs2149118730
|
|
NM_000186.4(CFH):c.3646ACA[1] (p.Thr1217del)
|
|
|
NM_000186.4(CFH):c.694C>T (p.Arg232Ter)
|
rs755790570
|
|
NM_000186.4(CFH):c.740del (p.Gly247fs)
|
rs2149082076
|
|
NM_000187.4(HGD):c.532G>T (p.Glu178Ter)
|
rs1941184654
|
|
NM_000190.4(HMBS):c.71G>A (p.Gly24Asp)
|
|
|
NM_000190.4(HMBS):c.754G>C (p.Ala252Pro)
|
rs118204113
|
|
NM_000190.4(HMBS):c.866_869del (p.Asp289fs)
|
|
|
NM_000190.4(HMBS):c.940_941del (p.Gln314fs)
|
rs1407093112
|
|
NM_000204.5(CFI):c.111dup (p.Tyr38fs)
|
|
|
NM_000204.5(CFI):c.1149-2A>T
|
rs1352826089
|
|
NM_000204.5(CFI):c.1384C>T (p.Gln462Ter)
|
|
|
NM_000204.5(CFI):c.1650_1651del (p.Cys550fs)
|
rs774728696
|
|
NM_000204.5(CFI):c.57+1G>C
|
rs1425827135
|
|
NM_000214.3(JAG1):c.1499dup (p.His501fs)
|
|
|
NM_000214.3(JAG1):c.2682+1G>T
|
rs1568792238
|
|
NM_000214.3(JAG1):c.387+1G>T
|
|
|
NM_000215.4(JAK3):c.1915-1G>A
|
|
|
NM_000218.3(KCNQ1):c.1046C>G (p.Ser349Trp)
|
rs199472765
|
|
NM_000218.3(KCNQ1):c.1697C>T (p.Ser566Phe)
|
rs199472804
|
|
NM_000218.3(KCNQ1):c.1702G>A (p.Gly568Arg)
|
rs199472807
|
|
NM_000218.3(KCNQ1):c.1781G>C (p.Arg594Pro)
|
rs199472815
|
|
NM_000218.3(KCNQ1):c.950A>G (p.Asp317Gly)
|
rs199472750
|
|
NM_000218.3(KCNQ1):c.958C>T (p.Pro320Ser)
|
rs199472753
|
|
NM_000218.3(KCNQ1):c.974G>A (p.Gly325Glu)
|
rs794728519
|
|
NM_000219.6(KCNE1):c.20_23dup (p.Val9fs)
|
rs2123459914
|
|
NM_000231.3(SGCG):c.801_802del (p.Pro268fs)
|
rs2137534216
|
|
NM_000238.4(KCNH2):c.1418C>A (p.Thr473Asn)
|
rs199472905
|
|
NM_000238.4(KCNH2):c.1591C>T (p.Arg531Trp)
|
rs199472915
|
|
NM_000238.4(KCNH2):c.1813C>T (p.Pro605Ser)
|
rs199472939
|
|
NM_000238.4(KCNH2):c.209A>G (p.His70Arg)
|
rs199473419
|
|
NM_000238.4(KCNH2):c.2146-1G>A
|
rs2116950992
|
|
NM_000238.4(KCNH2):c.214C>T (p.Pro72Ser)
|
rs794728411
|
|
NM_000238.4(KCNH2):c.221_242del (p.Thr74fs)
|
rs1389503709
|
|
NM_000249.4(MLH1):c.1032del (p.Phe344fs)
|
rs1553648225
|
|
NM_000249.4(MLH1):c.112A>T (p.Asn38Tyr)
|
rs63750580
|
|
NM_000249.4(MLH1):c.1258del (p.Ser420fs)
|
rs863225373
|
|
NM_000249.4(MLH1):c.1558+1G>A
|
rs267607832
|
|
NM_000249.4(MLH1):c.156del (p.Glu53fs)
|
rs63750028
|
|
NM_000249.4(MLH1):c.1719del (p.Leu574fs)
|
rs863225377
|
|
NM_000249.4(MLH1):c.1834_1847delinsT (p.Ile611_Val612insTer)
|
rs863225379
|
|
NM_000249.4(MLH1):c.1860dup (p.Met621fs)
|
rs863225380
|
|
NM_000249.4(MLH1):c.1913_1926dup (p.Ile643delinsAspTyrProPheTer)
|
rs587778958
|
|
NM_000249.4(MLH1):c.1990-2A>G
|
rs267607883
|
|
NM_000249.4(MLH1):c.2059del (p.Arg687fs)
|
rs863225381
|
|
NM_000249.4(MLH1):c.2101C>T (p.Gln701Ter)
|
rs63750114
|
|
NM_000249.4(MLH1):c.2252_2253del (p.Lys751fs)
|
rs267607901
|
|
NM_000249.4(MLH1):c.583A>T (p.Lys195Ter)
|
rs863225383
|
|
NM_000249.4(MLH1):c.673dup (p.Ser225fs)
|
rs1575469505
|
|
NM_000251.2(MSH2):c.793-?_1276+?dup
|
|
|
NM_000251.3(MSH2):c.1090del (p.Glu364fs)
|
rs863225385
|
|
NM_000251.3(MSH2):c.1177A>T (p.Lys393Ter)
|
rs863225386
|
|
NM_000251.3(MSH2):c.1237C>T (p.Gln413Ter)
|
rs863225387
|
|
NM_000251.3(MSH2):c.1276+2T>C
|
rs267607953
|
|
NM_000251.3(MSH2):c.1302del (p.Val435fs)
|
rs863225389
|
|
NM_000251.3(MSH2):c.1481C>G (p.Ser494Ter)
|
rs370970617
|
|
NM_000251.3(MSH2):c.1538_1539del (p.Leu513fs)
|
rs863225391
|
|
NM_000251.3(MSH2):c.1759+1G>A
|
rs587779108
|
|
NM_000251.3(MSH2):c.1911del (p.Arg638fs)
|
rs63750893
|
|
NM_000251.3(MSH2):c.1982_1985del (p.Lys661fs)
|
rs587779120
|
|
NM_000251.3(MSH2):c.2004T>A (p.Thr668=)
|
rs1553368731
|
|
NM_000251.3(MSH2):c.2005+2dup
|
rs541623924
|
|
NM_000251.3(MSH2):c.20del (p.Glu7fs)
|
rs267607915
|
|
NM_000251.3(MSH2):c.2295_2296insTA (p.Ile766Ter)
|
rs863225393
|
|
NM_000251.3(MSH2):c.2300C>G (p.Ser767Ter)
|
rs863225395
|
|
NM_000251.3(MSH2):c.2494G>T (p.Glu832Ter)
|
rs863225396
|
|
NM_000251.3(MSH2):c.2502_2508del (p.Asn835fs)
|
rs63751447
|
|
NM_000251.3(MSH2):c.528_529del (p.Cys176_Glu177delinsTer)
|
rs587779164
|
|
NM_000251.3(MSH2):c.793-1G>A
|
rs863225397
|
|
NM_000251.3(MSH2):c.871del (p.Glu290_Leu291insTer)
|
rs1064794809
|
|
NM_000252.3(MTM1):c.1509del (p.Asn503fs)
|
rs587783802
|
|
NM_000256.3(MYBPC3):c.1510AAG[1] (p.Lys505del)
|
rs727504287
|
|
NM_000256.3(MYBPC3):c.1591G>A (p.Gly531Arg)
|
rs397515912
|
|
NM_000256.3(MYBPC3):c.1791-1G>A
|
rs2142859427
|
|
NM_000256.3(MYBPC3):c.1927+1G>A
|
rs2142859053
|
|
NM_000256.3(MYBPC3):c.2995-1G>A
|
rs730880584
|
|
NM_000256.3(MYBPC3):c.3752A>G (p.Tyr1251Cys)
|
rs730880602
|
|
NM_000257.4(MYH7):c.1063G>A (p.Ala355Thr)
|
rs397516088
|
|
NM_000257.4(MYH7):c.2114G>A (p.Cys705Tyr)
|
rs1555337916
|
|
NM_000262.3(NAGA):c.418C>T (p.Gln140Ter)
|
rs776149537
|
|
NM_000271.5(NPC1):c.2625T>G (p.Tyr875Ter)
|
rs1555633361
|
|
NM_000286.3(PEX12):c.260_261insAA (p.Tyr87Ter)
|
rs61752099
|
|
NM_000289.6(PFKM):c.1596del (p.Asn532fs)
|
rs2136009658
|
|
NM_000289.6(PFKM):c.926A>G (p.Asp309Gly)
|
|
|
NM_000292.3(PHKA2):c.2433dup (p.Gly812fs)
|
rs1555995635
|
|
NM_000293.3(PHKB):c.2457del (p.Glu820fs)
|
rs1322527832
|
|
NM_000298.6(PKLR):c.1552C>A (p.Arg518Ser)
|
rs139002629
|
|
NM_000298.6(PKLR):c.1676G>C (p.Arg559Pro)
|
|
|
NM_000298.6(PKLR):c.957del (p.Gly319_Val320insTer)
|
rs2148204773
|
|
NM_000298.6(PKLR):c.993C>A (p.Asp331Glu)
|
rs138476691
|
|
NM_000308.4(CTSA):c.1035C>G (p.Tyr345Ter)
|
rs200636455
|
|
NM_000312.4(PROC):c.1155G>A (p.Met385Ile)
|
rs1688692415
|
|
NM_000312.4(PROC):c.1212dup (p.Pro405fs)
|
rs1333329860
|
|
NM_000312.4(PROC):c.1298G>A (p.Gly433Asp)
|
|
|
NM_000312.4(PROC):c.355_372del (p.Ser119_Ser124del)
|
rs1436671530
|
|
NM_000312.4(PROC):c.41G>A (p.Trp14Ter)
|
rs758576042
|
|
NM_000312.4(PROC):c.440G>A (p.Cys147Tyr)
|
rs1247269491
|
|
NM_000312.4(PROC):c.907_908del (p.Leu303fs)
|
|
|
NM_000313.4(PROS1):c.121C>T (p.Arg41Cys)
|
|
|
NM_000313.4(PROS1):c.1954G>T (p.Asp652Tyr)
|
|
|
NM_000313.4(PROS1):c.199G>A (p.Glu67Lys)
|
|
|
NM_000313.4(PROS1):c.329dup (p.Arg111fs)
|
|
|
NM_000313.4(PROS1):c.461G>A (p.Cys154Tyr)
|
|
|
NM_000313.4(PROS1):c.492del (p.Ser165fs)
|
|
|
NM_000313.4(PROS1):c.849+1G>C
|
|
|
NM_000314.8(PTEN):c.309del (p.Cys105fs)
|
rs1554898088
|
|
NM_000314.8(PTEN):c.39_40del (p.Arg14fs)
|
rs587776671
|
|
NM_000314.8(PTEN):c.528T>G (p.Tyr176Ter)
|
rs1057522285
|
|
NM_000334.4(SCN4A):c.2095G>A (p.Ala699Thr)
|
rs1057518865
|
|
NM_000335.5(SCN5A):c.1058C>T (p.Thr353Ile)
|
rs199473096
|
|
NM_000342.3(SLC4A1):c.2608C>T (p.Arg870Trp)
|
rs28931585
|
|
NM_000342.4(SLC4A1):c.1010del (p.Pro337fs)
|
|
|
NM_000342.4(SLC4A1):c.1030C>T (p.Arg344Ter)
|
rs750930293
|
|
NM_000342.4(SLC4A1):c.1058dup (p.Pro354fs)
|
rs2144615077
|
|
NM_000342.4(SLC4A1):c.1067_1068insT (p.Ser357fs)
|
|
|
NM_000342.4(SLC4A1):c.1180del (p.Tyr393_Leu394insTer)
|
rs2144614196
|
|
NM_000342.4(SLC4A1):c.1561C>T (p.Gln521Ter)
|
rs2144612096
|
|
NM_000342.4(SLC4A1):c.1626+1G>T
|
rs1192674860
|
|
NM_000342.4(SLC4A1):c.1659T>A (p.Tyr553Ter)
|
|
|
NM_000342.4(SLC4A1):c.202G>T (p.Glu68Ter)
|
rs13306787
|
|
NM_000342.4(SLC4A1):c.2169G>A (p.Trp723Ter)
|
rs2047358814
|
|
NM_000342.4(SLC4A1):c.2260C>T (p.Gln754Ter)
|
rs2144601189
|
|
NM_000342.4(SLC4A1):c.2284A>C (p.Ser762Arg)
|
|
|
NM_000342.4(SLC4A1):c.2285G>T (p.Ser762Ile)
|
rs2047357659
|
|
NM_000342.4(SLC4A1):c.2384del (p.Met795fs)
|
|
|
NM_000342.4(SLC4A1):c.2510C>T (p.Thr837Met)
|
rs2047337144
|
|
NM_000342.4(SLC4A1):c.2655+2_2655+3del
|
|
|
NM_000342.4(SLC4A1):c.515del (p.Gly172fs)
|
|
|
NM_000342.4(SLC4A1):c.556C>T (p.Gln186Ter)
|
|
|
NM_000368.5(TSC1):c.1109C>G (p.Ser370Ter)
|
|
|
NM_000368.5(TSC1):c.1141+1G>T
|
rs397514819
|
|
NM_000368.5(TSC1):c.1192del (p.Ala398fs)
|
rs2131943928
|
|
NM_000368.5(TSC1):c.473T>C (p.Phe158Ser)
|
rs118203385
|
|
NM_000374.5(UROD):c.399_401delinsCCA (p.Val134Gln)
|
rs2148982736
|
|
NM_000374.5(UROD):c.921dup (p.Cys308fs)
|
rs2148983625
|
|
NM_000377.3(WAS):c.244T>C (p.Ser82Pro)
|
rs132630272
|
|
NM_000377.3(WAS):c.869T>C (p.Ile290Thr)
|
rs2062426981
|
|
NM_000382.3(ALDH3A2):c.1297_1298del (p.Glu433fs)
|
rs387906256
|
|
NM_000382.3(ALDH3A2):c.1307_1311dup (p.Leu438fs)
|
rs387906257
|
|
NM_000382.3(ALDH3A2):c.943delinsTGTTGGGG (p.Pro315fs)
|
rs1555534434
|
|
NM_000388.4(CASR):c.1970C>A (p.Ser657Tyr)
|
|
|
NM_000392.5(ABCC2):c.4175_4180del (p.Arg1392_Met1393del)
|
rs749662916
|
|
NM_000402.4(G6PD):c.1192G>A (p.Glu398Lys)
|
rs387906468
|
|
NM_000402.4(G6PD):c.727G>T (p.Val243Leu)
|
rs137852326
|
|
NM_000414.4(HSD17B4):c.270del (p.Phe90fs)
|
rs1276397342
|
|
NM_000414.4(HSD17B4):c.296dup (p.Asn99fs)
|
rs1057516672
|
|
NM_000431.4(MVK):c.60T>A (p.His20Gln)
|
rs104895335
|
|
NM_000432.4(MYL2):c.188del (p.Asn63fs)
|
rs1177936172
|
|
NM_000435.3(NOTCH3):c.1364G>A (p.Cys455Tyr)
|
rs886041513
|
|
NM_000435.3(NOTCH3):c.3182G>A (p.Cys1061Tyr)
|
rs1064794216
|
|
NM_000435.3(NOTCH3):c.3944G>A (p.Cys1315Tyr)
|
rs1432396805
|
|
NM_000435.3(NOTCH3):c.484T>G (p.Cys162Gly)
|
|
|
NM_000435.3(NOTCH3):c.865G>T (p.Gly289Cys)
|
rs1253499013
|
|
NM_000454.5(SOD1):c.413C>T (p.Thr138Ile)
|
rs1568811454
|
|
NM_000455.5(STK11):c.582C>A (p.Asp194Glu)
|
rs786202134
|
|
NM_000466.3(PEX1):c.2724dup (p.Glu909fs)
|
rs1554369227
|
|
NM_000466.3(PEX1):c.829C>T (p.Gln277Ter)
|
|
|
NM_000488.4(SERPINC1):c.373G>T (p.Gly125Cys)
|
|
|
NM_000492.4(CFTR):c.1117-1G>T
|
|
|
NM_000492.4(CFTR):c.1367T>C (p.Val456Ala)
|
rs193922500
|
|
NM_000492.4(CFTR):c.1439G>A (p.Gly480Asp)
|
rs397508208
|
|
NM_000492.4(CFTR):c.1543_1555del (p.Tyr515fs)
|
rs1301983423
|
|
NM_000492.4(CFTR):c.1675G>C (p.Ala559Pro)
|
|
|
NM_000492.4(CFTR):c.3259G>C (p.Ala1087Pro)
|
rs771259493
|
|
NM_000492.4(CFTR):c.328G>T (p.Asp110Tyr)
|
rs113993958
|
|
NM_000492.4(CFTR):c.3392_3396dup (p.Thr1134fs)
|
|
|
NM_000492.4(CFTR):c.3846G>C (p.Trp1282Cys)
|
rs77010898
|
|
NM_000492.4(CFTR):c.3873+1G>T
|
rs143570767
|
|
NM_000492.4(CFTR):c.743+1G>C
|
rs397508791
|
|
NM_000512.5(GALNS):c.499T>G (p.Phe167Val)
|
rs148565559
|
|
NM_000512.5(GALNS):c.865A>T (p.Asn289Tyr)
|
|
|
NM_000518.5(HBB):c.389_401del (p.Ala130fs)
|
|
|
NM_000520.6(HEXA):c.590A>C (p.Lys197Thr)
|
rs121907973
|
|
NM_000527.5(LDLR):c.1502C>A (p.Ala501Glu)
|
rs755667663
|
|
NM_000527.5(LDLR):c.1586+5G>C
|
rs781362878
|
|
NM_000527.5(LDLR):c.2096C>T (p.Pro699Leu)
|
|
|
NM_000527.5(LDLR):c.2341G>T (p.Glu781Ter)
|
rs2147283349
|
|
NM_000527.5(LDLR):c.2547+1G>A
|
rs879255224
|
|
NM_000527.5(LDLR):c.313+3A>C
|
rs1064793799
|
|
NM_000527.5(LDLR):c.667_681del (p.Lys223_Asp227del)
|
rs2147225532
|
|
NM_000530.8(MPZ):c.130_137del (p.Ser44fs)
|
rs1571820186
|
|
NM_000533.5(PLP1):c.140T>C (p.Ile47Thr)
|
rs1060500909
|
|
NM_000535.7(PMS2):c.1254del (p.Arg419fs)
|
|
|
NM_000535.7(PMS2):c.1452del (p.Thr485fs)
|
|
|
NM_000535.7(PMS2):c.2095G>C (p.Asp699His)
|
rs587781317
|
|
NM_000540.3(RYR1):c.14759C>T (p.Thr4920Ile)
|
rs118192155
|
|
NM_000546.6(TP53):c.116_117del (p.Ala39fs)
|
rs1555526793
|
|
NM_000546.6(TP53):c.400_401insG (p.Phe134fs)
|
rs1555526286
|
|
NM_000546.6(TP53):c.401T>G (p.Phe134Cys)
|
rs780442292
|
|
NM_000546.6(TP53):c.404G>A (p.Cys135Tyr)
|
rs587781991
|
|
NM_000546.6(TP53):c.448_460del (p.Thr150fs)
|
rs1064792930
|
|
NM_000546.6(TP53):c.469_476del (p.Val157fs)
|
rs1555526137
|
|
NM_000546.6(TP53):c.745A>G (p.Arg249Gly)
|
rs587782082
|
|
NM_000546.6(TP53):c.831T>A (p.Cys277Ter)
|
rs1057523347
|
|
NM_000546.6(TP53):c.970del (p.Asp324fs)
|
rs1555524970
|
|
NM_000548.5(TSC2):c.1152_1162del (p.His385fs)
|
|
|
NM_000548.5(TSC2):c.1728C>G (p.Tyr576Ter)
|
|
|
NM_000548.5(TSC2):c.2113G>A (p.Val705Met)
|
rs397515241
|
|
NM_000548.5(TSC2):c.3610+1G>T
|
rs45517299
|
|
NM_000548.5(TSC2):c.4783G>A (p.Gly1595Arg)
|
rs45517369
|
|
NM_000551.4(VHL):c.257C>G (p.Pro86Arg)
|
rs730882034
|
|
NM_000551.4(VHL):c.351G>A (p.Trp117Ter)
|
|
|
NM_000552.5(VWF):c.4571T>G (p.Val1524Gly)
|
rs2136412301
|
|
NM_000552.5(VWF):c.6578G>A (p.Trp2193Ter)
|
|
|
NM_000552.5(VWF):c.7057G>A (p.Glu2353Lys)
|
|
|
NM_000552.5(VWF):c.7483del (p.Leu2495fs)
|
rs1229452874
|
|
NM_000553.6(WRN):c.1114_1115delinsC (p.Asp372fs)
|
rs1563338855
|
|
NM_000642.3(AGL):c.1405C>T (p.Arg469Ter)
|
rs766536350
|
|
NM_000642.3(AGL):c.293+1del
|
rs777857395
|
|
NM_000642.3(AGL):c.3613C>T (p.Gln1205Ter)
|
rs775498547
|
|
NM_000642.3(AGL):c.959-61_965dup
|
rs1553185268
|
|
NM_000760.4(CSF3R):c.1537_1552del (p.Gly513fs)
|
rs2124107312
|
|
NM_000760.4(CSF3R):c.1829A>T (p.Asn610Ile)
|
rs764132853
|
|
NM_001002010.5(NT5C3A):c.693+1G>A
|
|
|
NM_001005273.3(CHD3):c.3603_3614del (p.Met1202_Thr1205del)
|
rs1555612691
|
|
NM_001008212.2(OPTN):c.375del (p.Thr126fs)
|
|
|
NM_001009944.3(PKD1):c.10236del (p.Ser3413fs)
|
|
|
NM_001009944.3(PKD1):c.3490G>A (p.Gly1164Arg)
|
rs2151801188
|
|
NM_001009944.3(PKD1):c.416G>A (p.Trp139Ter)
|
|
|
NM_001009944.3(PKD1):c.4857del (p.Ala1620fs)
|
|
|
NM_001009944.3(PKD1):c.604G>T (p.Glu202Ter)
|
|
|
NM_001009944.3(PKD1):c.7615del (p.Leu2539fs)
|
|
|
NM_001010867.4(IBA57):c.436C>T (p.Arg146Trp)
|
rs73095427
|
|
NM_001022.4(RPS19):c.166C>G (p.Arg56Gly)
|
|
|
NM_001032221.6(STXBP1):c.145_148del (p.Asp49fs)
|
rs2132444703
|
|
NM_001033855.3(DCLRE1C):c.1670_1671del (p.Thr557fs)
|
rs1834759683
|
|
NM_001035.3(RYR2):c.39C>G (p.Phe13Leu)
|
rs1660038687
|
|
NM_001039141.3(TRIOBP):c.3854_3855del (p.Arg1285fs)
|
rs750744696
|
|
NM_001040108.2(MLH3):c.3154del (p.Leu1052fs)
|
rs745657036
|
|
NM_001040436.3(YARS2):c.201dup (p.Gly68fs)
|
rs1555137047
|
|
NM_001042492.3(NF1):c.1845G>T (p.Lys615Asn)
|
rs1131691080
|
|
NM_001042492.3(NF1):c.204+1G>T
|
rs886039548
|
|
NM_001042492.3(NF1):c.2268del (p.Arg758fs)
|
rs2151426865
|
|
NM_001042492.3(NF1):c.3870+1G>C
|
rs1131691075
|
|
NM_001042492.3(NF1):c.4110+1G>A
|
rs1555617383
|
|
NM_001042492.3(NF1):c.4369A>G (p.Lys1457Glu)
|
rs878853893
|
|
NM_001042492.3(NF1):c.4812_4814delinsA (p.Ile1605fs)
|
|
|
NM_001042492.3(NF1):c.5253dup (p.Lys1752fs)
|
|
|
NM_001042492.3(NF1):c.6320_6345dup (p.Leu2116_Ser2117insLeuSerTer)
|
|
|
NM_001042492.3(NF1):c.6921+1G>T
|
rs1060500355
|
|
NM_001042702.5(PJVK):c.124C>T (p.Arg42Ter)
|
|
|
NM_001081.4(CUBN):c.3829+1G>A
|
|
|
NM_001083961.2(WDR62):c.2396_2397del (p.Glu799fs)
|
rs747870811
|
|
NM_001098484.3(SLC4A4):c.1412C>T (p.Ser471Leu)
|
|
|
NM_001103.4(ACTN2):c.1167_1169delinsA (p.Leu390fs)
|
rs2102927408
|
|
NM_001110792.2(MECP2):c.440A>C (p.Lys147Thr)
|
|
|
NM_001110792.2(MECP2):c.961C>T (p.Arg321Trp)
|
rs61751444
|
|
NM_001114134.2(EPB42):c.293_300dup (p.Ser101fs)
|
rs1215949434
|
|
NM_001114134.2(EPB42):c.619_628del (p.Gln207fs)
|
rs2142297728
|
|
NM_001114753.3(ENG):c.1311G>C (p.Arg437=)
|
rs1554809448
|
|
NM_001114753.3(ENG):c.1429-1G>A
|
rs2131876244
|
|
NM_001114753.3(ENG):c.1646G>A (p.Cys549Tyr)
|
rs1060501421
|
|
NM_001114753.3(ENG):c.360+5G>A
|
rs1060501417
|
|
NM_001114753.3(ENG):c.694_699del (p.Arg232_Thr233del)
|
rs2131888057
|
|
NM_001114753.3(ENG):c.713T>A (p.Val238Glu)
|
rs1060501415
|
|
NM_001114753.3(ENG):c.885_886del (p.Pro296fs)
|
|
|
NM_001114753.3(ENG):c.899T>C (p.Leu300Pro)
|
rs1335718486
|
|
NM_001122764.3(PPOX):c.199del (p.Ala66_Leu67insTer)
|
rs786204784
|
|
NM_001122764.3(PPOX):c.338+2dup
|
rs2101851488
|
|
NM_001130987.2(DYSF):c.3085+1G>A
|
rs1553555585
|
|
NM_001134363.3(RBM20):c.2802del (p.Ile935fs)
|
rs2135121046
|
|
NM_001134363.3(RBM20):c.460C>T (p.Gln154Ter)
|
rs2135041646
|
|
NM_001134407.3(GRIN2A):c.1497+1G>T
|
rs2141344569
|
|
NM_001142864.4(PIEZO1):c.1450_1453del (p.Trp484fs)
|
|
|
NM_001142864.4(PIEZO1):c.1536del (p.Cys513fs)
|
|
|
NM_001142864.4(PIEZO1):c.1792G>A (p.Val598Met)
|
rs2142820621
|
|
NM_001142864.4(PIEZO1):c.2748G>A (p.Trp916Ter)
|
|
|
NM_001142864.4(PIEZO1):c.5289C>G (p.Tyr1763Ter)
|
rs72811487
|
|
NM_001142864.4(PIEZO1):c.6058G>A (p.Ala2020Thr)
|
rs587776989
|
|
NM_001142864.4(PIEZO1):c.6132G>A (p.Trp2044Ter)
|
|
|
NM_001142864.4(PIEZO1):c.7463G>A (p.Arg2488Gln)
|
|
|
NM_001165963.4(SCN1A):c.264+4_264+7del
|
rs1574370981
|
|
NM_001165963.4(SCN1A):c.4002+1G>T
|
rs1692153643
|
|
NM_001165963.4(SCN1A):c.4300T>A (p.Trp1434Arg)
|
rs121918789
|
|
NM_001165963.4(SCN1A):c.5515C>G (p.Leu1839Val)
|
rs794726801
|
|
NM_001166114.2(PNPLA6):c.2936+2T>G
|
|
|
NM_001167.4(XIAP):c.562G>A (p.Gly188Arg)
|
rs1602544454
|
|
NM_001195553.2(DCX):c.809-1G>A
|
rs587783589
|
|
NM_001199563.2(BVES):c.427A>T (p.Arg143Ter)
|
rs1773614673
|
|
NM_001199563.2(BVES):c.602C>G (p.Ser201Cys)
|
rs869025337
|
|
NM_001206927.2(DNAH8):c.4736G>A (p.Trp1579Ter)
|
|
|
NM_001206979.2(NR1H4):c.91G>T (p.Glu31Ter)
|
rs753528227
|
|
NM_001242.5(CD27):c.406_407del (p.Leu136fs)
|
rs1949504456
|
|
NM_001242896.3(DEPDC5):c.1780C>T (p.Gln594Ter)
|
|
|
NM_001242896.3(DEPDC5):c.218_219del (p.Val73fs)
|
rs2148103243
|
|
NM_001243133.2(NLRP3):c.2575T>C (p.Tyr859His)
|
rs2103174031
|
|
NM_001258392.3(CLPB):c.874-2A>G
|
|
|
NM_001267550.2(TTN):c.46814dup (p.Asn15605fs)
|
|
|
NM_001267550.2(TTN):c.47479C>T (p.Gln15827Ter)
|
rs794729261
|
|
NM_001267550.2(TTN):c.50095C>T (p.Gln16699Ter)
|
rs2056504499
|
|
NM_001267550.2(TTN):c.53836dup (p.Ser17946fs)
|
rs2154195584
|
|
NM_001267550.2(TTN):c.59466dup (p.Glu19823fs)
|
rs2154185712
|
|
NM_001267550.2(TTN):c.63526_63527del (p.Leu21176fs)
|
rs2154182483
|
|
NM_001267550.2(TTN):c.64680del (p.Gly21561fs)
|
|
|
NM_001267550.2(TTN):c.67279del (p.Arg22427fs)
|
rs2154175979
|
|
NM_001267550.2(TTN):c.79141A>T (p.Lys26381Ter)
|
rs1131691944
|
|
NM_001267550.2(TTN):c.79519_79520del (p.Ala26507fs)
|
|
|
NM_001267550.2(TTN):c.80584del (p.Ser26862fs)
|
rs794729348
|
|
NM_001267550.2(TTN):c.81340_81344del (p.Lys27114fs)
|
rs886038928
|
|
NM_001267550.2(TTN):c.89553del (p.Ala29853fs)
|
rs1575529262
|
|
NM_001267550.2(TTN):c.90657del (p.Ile30220fs)
|
|
|
NM_001267550.2(TTN):c.94103_94107del (p.Ile31368fs)
|
rs769488730
|
|
NM_001278716.2(FBXL4):c.1067del (p.Gly356fs)
|
rs1554219474
|
|
NM_001289104.2(PRKCSH):c.1285G>T (p.Glu429Ter)
|
|
|
NM_001292063.2(OTOG):c.432del (p.Gln145fs)
|
rs1393191930
|
|
NM_001303.4(COX10):c.688C>T (p.Gln230Ter)
|
rs1425392070
|
|
NM_001320.7(CSNK2B):c.181G>T (p.Glu61Ter)
|
rs1562050885
|
|
NM_001320.7(CSNK2B):c.2T>A (p.Met1Lys)
|
rs1562045237
|
|
NM_001330260.2(SCN8A):c.4585A>G (p.Met1529Val)
|
rs2138919124
|
|
NM_001355436.2(SPTB):c.1396dup (p.Ala466fs)
|
rs2139603257
|
|
NM_001355436.2(SPTB):c.1625_1632dup (p.Asp545fs)
|
|
|
NM_001355436.2(SPTB):c.1932G>A (p.Trp644Ter)
|
rs2139596180
|
|
NM_001355436.2(SPTB):c.1A>G (p.Met1Val)
|
rs121918651
|
|
NM_001355436.2(SPTB):c.2024del (p.Leu675fs)
|
|
|
NM_001355436.2(SPTB):c.208C>T (p.Arg70Ter)
|
rs1566775577
|
|
NM_001355436.2(SPTB):c.2237del (p.Phe746fs)
|
|
|
NM_001355436.2(SPTB):c.3838del (p.Leu1280fs)
|
rs2139560751
|
|
NM_001355436.2(SPTB):c.3916C>T (p.Arg1306Ter)
|
rs150471537
|
|
NM_001355436.2(SPTB):c.3936G>A (p.Trp1312Ter)
|
rs2139555500
|
|
NM_001355436.2(SPTB):c.3980_3983delinsCCAGAGAACATGAA (p.Gly1327fs)
|
rs2139555125
|
|
NM_001355436.2(SPTB):c.4346del (p.Gly1449fs)
|
|
|
NM_001355436.2(SPTB):c.4373dup (p.Arg1459fs)
|
|
|
NM_001355436.2(SPTB):c.4474-1G>A
|
rs1311265074
|
|
NM_001355436.2(SPTB):c.4615C>T (p.Gln1539Ter)
|
|
|
NM_001355436.2(SPTB):c.4687C>T (p.Gln1563Ter)
|
|
|
NM_001355436.2(SPTB):c.4735C>T (p.Arg1579Ter)
|
rs760938057
|
|
NM_001355436.2(SPTB):c.4894_4906dup (p.Tyr1636fs)
|
|
|
NM_001355436.2(SPTB):c.4924C>T (p.Gln1642Ter)
|
|
|
NM_001355436.2(SPTB):c.4973+5G>A
|
rs1555367789
|
|
NM_001355436.2(SPTB):c.5016dup (p.Ala1673fs)
|
|
|
NM_001355436.2(SPTB):c.542T>A (p.Leu181Ter)
|
rs2139632228
|
|
NM_001355436.2(SPTB):c.5692C>T (p.Gln1898Ter)
|
rs1398484902
|
|
NM_001355436.2(SPTB):c.5949del (p.Lys1983fs)
|
|
|
NM_001355436.2(SPTB):c.5994G>A (p.Trp1998Ter)
|
|
|
NM_001355436.2(SPTB):c.6168dup (p.Ser2057fs)
|
|
|
NM_001355436.2(SPTB):c.724G>T (p.Glu242Ter)
|
rs2139628367
|
|
NM_001355436.2(SPTB):c.742dup (p.Ile248fs)
|
rs2139628261
|
|
NM_001355436.2(SPTB):c.983_984del (p.Arg328fs)
|
|
|
NM_001356.5(DDX3X):c.1486G>A (p.Val496Met)
|
rs1555954154
|
|
NM_001360016.2(G6PD):c.1186C>G (p.Pro396Ala)
|
rs2148328852
|
|
NM_001360016.2(G6PD):c.611G>A (p.Gly204Asp)
|
rs2148330566
|
|
NM_001364905.1(LRBA):c.7389dup (p.Gly2464fs)
|
|
|
NM_001365276.2(TNXB):c.1680del (p.Gly562fs)
|
|
|
NM_001370259.2(MEN1):c.1732C>T (p.Gln578Ter)
|
|
|
NM_001370298.3(FGD4):c.658C>T (p.Gln220Ter)
|
rs1307972506
|
|
NM_001370595.2(COA8):c.184_187del (p.Tyr62fs)
|
|
|
NM_001371596.2(MFSD8):c.1021del (p.Leu341fs)
|
rs1736400607
|
|
NM_001371623.1(TCOF1):c.37del (p.Pro12_Leu13insTer)
|
|
|
NM_001371928.1(AHDC1):c.3168_3169del (p.Cys1056_Asp1057delinsTer)
|
rs1553158517
|
|
NM_001376013.1(EPB41):c.1744dup (p.Thr582fs)
|
rs2150754040
|
|
NM_001376013.1(EPB41):c.628A>G (p.Met210Val)
|
rs1557948192
|
|
NM_001379610.1(SPINK1):c.182del (p.Cys61fs)
|
|
|
NM_001406838.1(KCNQ1):c.478-12807_478-12805del
|
rs2133726899
|
|
NM_001458.5(FLNC):c.4716del (p.Leu1573fs)
|
rs1554400021
|
|
NM_001478.5(B4GALNT1):c.713-1G>A
|
|
|
NM_001698.3(AUH):c.150G>A (p.Trp50Ter)
|
rs1587943560
|
|
NM_001845.6(COL4A1):c.3307G>A (p.Gly1103Arg)
|
rs1877796698
|
|
NM_001849.4(COL6A2):c.1458+1G>A
|
rs886044526
|
|
NM_001875.5(CPS1):c.1981+1G>C
|
|
|
NM_001904.4(CTNNB1):c.2076G>C (p.Glu692Asp)
|
rs1559477241
|
|
NM_001953.5(TYMP):c.1301-2_1305del
|
rs2148676442
|
|
NM_001972.4(ELANE):c.254G>A (p.Gly85Glu)
|
rs2145145006
|
|
NM_001972.4(ELANE):c.457G>C (p.Ala153Pro)
|
|
|
NM_001972.4(ELANE):c.597+3A>T
|
rs2145149093
|
|
NM_002049.4(GATA1):c.220+2T>C
|
|
|
NM_002109.6(HARS1):c.90+1G>C
|
rs1554109203
|
|
NM_002113.3(CFHR1):c.887C>T (p.Ala296Val)
|
rs16840561
|
|
NM_002180.3(IGHMBP2):c.2911_2912del (p.Arg971fs)
|
rs724159994
|
|
NM_002246.3(KCNK3):c.365T>C (p.Leu122Pro)
|
rs1553387422
|
|
NM_002437.5(MPV17):c.135del (p.Glu45fs)
|
rs777604559
|
|
NM_002633.3(PGM1):c.1144+3A>T
|
|
|
NM_002637.4(PHKA1):c.1345_1346del (p.Glu449fs)
|
rs2147747770
|
|
NM_002641.4(PIGA):c.1189-2_1189-1del
|
|
|
NM_002641.4(PIGA):c.236G>A (p.Gly79Asp)
|
rs2147723922
|
|
NM_002693.3(POLG):c.3104+2_3104+5del
|
rs761664802
|
|
NM_002739.5(PRKCG):c.379C>A (p.Gln127Lys)
|
rs1599943097
|
|
NM_002880.4(RAF1):c.1871C>G (p.Ser624Cys)
|
rs1057524239
|
|
NM_002880.4(RAF1):c.776C>G (p.Ser259Cys)
|
rs397516827
|
|
NM_003000.3(SDHB):c.590C>G (p.Pro197Arg)
|
rs74315367
|
|
NM_003002.4(SDHD):c.186_189dup (p.Leu64fs)
|
|
|
NM_003049.4(SLC10A1):c.754C>A (p.Arg252Ser)
|
rs141269120
|
|
NM_003052.5(SLC34A1):c.1007-1G>A
|
|
|
NM_003126.4(SPTA1):c.1273C>T (p.Arg425Ter)
|
|
|
NM_003126.4(SPTA1):c.1350+1G>C
|
|
|
NM_003126.4(SPTA1):c.1406_1408del (p.His469del)
|
rs775280006
|
|
NM_003126.4(SPTA1):c.173del (p.Phe58fs)
|
|
|
NM_003126.4(SPTA1):c.1833+1G>A
|
rs1035389616
|
|
NM_003126.4(SPTA1):c.1921C>T (p.Gln641Ter)
|
|
|
NM_003126.4(SPTA1):c.2038G>A (p.Gly680Arg)
|
rs2101904247
|
|
NM_003126.4(SPTA1):c.2173C>T (p.Arg725Ter)
|
rs2101900643
|
|
NM_003126.4(SPTA1):c.2386C>T (p.Gln796Ter)
|
rs2101892539
|
|
NM_003126.4(SPTA1):c.2464+1G>A
|
rs774632615
|
|
NM_003126.4(SPTA1):c.2938C>T (p.Gln980Ter)
|
rs539524312
|
|
NM_003126.4(SPTA1):c.2965_2966del (p.Gln989fs)
|
|
|
NM_003126.4(SPTA1):c.3026_3027delinsGA (p.Ser1009Ter)
|
rs2101868872
|
|
NM_003126.4(SPTA1):c.3494G>A (p.Trp1165Ter)
|
|
|
NM_003126.4(SPTA1):c.3664C>T (p.Gln1222Ter)
|
|
|
NM_003126.4(SPTA1):c.390+1G>A
|
rs2101951549
|
|
NM_003126.4(SPTA1):c.4295del (p.Ala1431_Leu1432insTer)
|
|
|
NM_003126.4(SPTA1):c.4398T>G (p.Tyr1466Ter)
|
|
|
NM_003126.4(SPTA1):c.4579_4586del (p.Ser1527fs)
|
rs2101829513
|
|
NM_003126.4(SPTA1):c.461TGC[3] (p.Leu155dup)
|
rs749754226
|
|
NM_003126.4(SPTA1):c.4767G>A (p.Trp1589Ter)
|
rs2101819646
|
|
NM_003126.4(SPTA1):c.6154del (p.Ala2052fs)
|
|
|
NM_003126.4(SPTA1):c.6236_6264del (p.Arg2079fs)
|
rs2101760572
|
|
NM_003126.4(SPTA1):c.6414del (p.Ile2138fs)
|
rs767854151
|
|
NM_003126.4(SPTA1):c.660T>A (p.Tyr220Ter)
|
rs2101942740
|
|
NM_003126.4(SPTA1):c.6749T>A (p.Leu2250Ter)
|
|
|
NM_003126.4(SPTA1):c.6788+1G>A
|
|
|
NM_003126.4(SPTA1):c.7135_7137delinsTATAAATGACA (p.Ala2379delinsTyrLysTer)
|
|
|
NM_003126.4(SPTA1):c.7181_7182del (p.Gln2394fs)
|
rs2101741276
|
|
NM_003126.4(SPTA1):c.7199del (p.Gly2400fs)
|
|
|
NM_003126.4(SPTA1):c.957+1G>A
|
rs373407146
|
|
NM_003126.4(SPTA1):c.958-1G>T
|
|
|
NM_003361.4(UMOD):c.533G>C (p.Arg178Pro)
|
rs1228791562
|
|
NM_003640.5(ELP1):c.138dup (p.Val47fs)
|
rs1564110292
|
|
NM_003640.5(ELP1):c.2894_2906del (p.Ile965fs)
|
|
|
NM_003647.3(DGKE):c.1057del (p.Gln353fs)
|
|
|
NM_004006.3(DMD):c.1075G>T (p.Glu359Ter)
|
rs1556876346
|
|
NM_004085.4(TIMM8A):c.100C>T (p.Gln34Ter)
|
rs863224234
|
|
NM_004115.4(FGF14):c.564del (p.Thr190fs)
|
rs2035456443
|
|
NM_004333.6(BRAF):c.1402T>C (p.Phe468Leu)
|
rs2129023598
|
|
NM_004341.5(CAD):c.1070_1071del (p.Val357fs)
|
rs1572426165
|
|
NM_004360.5(CDH1):c.2100del (p.Val701fs)
|
rs1555517136
|
|
NM_004360.5(CDH1):c.2195G>A (p.Arg732Gln)
|
rs1060501244
|
|
NM_004369.4(COL6A3):c.526G>T (p.Gly176Ter)
|
|
|
NM_004370.6(COL12A1):c.4000+1G>A
|
rs2149416563
|
|
NM_004415.4(DSP):c.5497G>T (p.Glu1833Ter)
|
rs1294492338
|
|
NM_004453.4(ETFDH):c.405+3A>G
|
rs796051965
|
|
NM_004563.4(PCK2):c.451_452dup (p.Met152fs)
|
rs1555341463
|
|
NM_004563.4(PCK2):c.457del (p.Gln153fs)
|
rs1555341473
|
|
NM_004563.4(PCK2):c.459_460insA (p.Gly154fs)
|
rs1555341483
|
|
NM_004656.4(BAP1):c.1117-1G>A
|
|
|
NM_004820.5(CYP7B1):c.1150del (p.Asp384fs)
|
rs2129629942
|
|
NM_004999.4(MYO6):c.2417-1G>A
|
|
|
NM_005097.4(LGI1):c.108del (p.Lys36fs)
|
rs2133975489
|
|
NM_005138.3(SCO2):c.577G>A (p.Gly193Ser)
|
|
|
NM_005141.4(FGB):c.130C>T (p.Arg44Cys)
|
rs121909616
|
|
NM_005159.5(ACTC1):c.793C>G (p.Gln265Glu)
|
rs727504323
|
|
NM_005247.4(FGF3):c.45del (p.Trp16fs)
|
|
|
NM_005262.3(GFER):c.217del (p.Ala73fs)
|
rs1555486560
|
|
NM_005359.6(SMAD4):c.1059C>G (p.Tyr353Ter)
|
rs863224400
|
|
NM_005359.6(SMAD4):c.1351_1375del (p.Ala451fs)
|
rs587780124
|
|
NM_005548.3(KARS1):c.1657C>T (p.Arg553Ter)
|
|
|
NM_005585.5(SMAD6):c.263del (p.Gly88fs)
|
rs1199495614
|
|
NM_005619.5(RTN2):c.1154del (p.Leu385fs)
|
|
|
NM_005629.4(SLC6A8):c.259G>A (p.Gly87Arg)
|
rs122453115
|
|
NM_005654.6(NR2F1):c.1115T>C (p.Leu372Pro)
|
rs1554075105
|
|
NM_005670.4(EPM2A):c.835G>A (p.Gly279Ser)
|
rs137852917
|
|
NM_005902.4(SMAD3):c.1118G>A (p.Arg373His)
|
rs1060500766
|
|
NM_006009.4(TUBA1A):c.321C>G (p.His107Gln)
|
rs1565627513
|
|
NM_006073.4(TRDN):c.502del (p.Glu168fs)
|
|
|
NM_006096.4(NDRG1):c.944-1G>T
|
rs1588216753
|
|
NM_006208.3(ENPP1):c.323G>T (p.Cys108Phe)
|
rs763922486
|
|
NM_006306.4(SMC1A):c.95G>A (p.Gly32Glu)
|
rs1556892359
|
|
NM_006329.4(FBLN5):c.850C>T (p.Arg284Ter)
|
rs2139960687
|
|
NM_006493.4(CLN5):c.808_823del (p.Gly270fs)
|
rs386833983
|
|
NM_006516.4(SLC2A1):c.843_854del (p.Gln282_Ser285del)
|
rs2124448824
|
|
NM_006565.4(CTCF):c.848G>A (p.Arg283His)
|
rs1567609067
|
|
NM_006772.3(SYNGAP1):c.1652T>C (p.Leu551Pro)
|
rs1554121453
|
|
NM_006846.4(SPINK5):c.2015+5G>A
|
|
|
NM_006941.4(SOX10):c.1236T>A (p.Tyr412Ter)
|
|
|
NM_007272.3(CTRC):c.649G>C (p.Gly217Arg)
|
rs202058123
|
|
NM_007294.4(BRCA1):c.4814_4815insTATT (p.Leu1605fs)
|
rs2052403348
|
|
NM_007327.4(GRIN1):c.2021A>T (p.Asn674Ile)
|
rs2131299944
|
|
NM_012200.4(B3GAT3):c.85C>T (p.Gln29Ter)
|
|
|
NM_013247.5(HTRA2):c.1318C>T (p.Gln440Ter)
|
|
|
NM_013335.4(GMPPA):c.138+1G>T
|
|
|
NM_013382.7(POMT2):c.1213_1228del (p.Phe405fs)
|
|
|
NM_014191.4(SCN8A):c.706+1G>A
|
rs2138716241
|
|
NM_014334.4(FRRS1L):c.566del (p.Pro189fs)
|
rs1831184766
|
|
NM_014363.6(SACS):c.9293del (p.Ile3098fs)
|
|
|
NM_014727.3(KMT2B):c.5335C>T (p.Arg1779Ter)
|
rs1568379151
|
|
NM_014874.4(MFN2):c.2177C>A (p.Ser726Ter)
|
|
|
NM_014874.4(MFN2):c.239G>T (p.Gly80Val)
|
rs139827903
|
|
NM_014946.4(SPAST):c.1088_1089insAT (p.Leu363_Arg364insTer)
|
rs2148734605
|
|
NM_014946.4(SPAST):c.1196C>T (p.Ser399Leu)
|
rs1553317025
|
|
NM_014946.4(SPAST):c.1775T>A (p.Ile592Lys)
|
rs1553321237
|
|
NM_014946.4(SPAST):c.897_900del (p.Lys300fs)
|
|
|
NM_015346.4(ZFYVE26):c.1343_1344del (p.Leu448fs)
|
rs1190463308
|
|
NM_015443.4(KANSL1):c.1463dup (p.Glu489fs)
|
rs1555753569
|
|
NM_015915.5(ATL1):c.1243C>T (p.Arg415Trp)
|
rs119476050
|
|
NM_015915.5(ATL1):c.757G>A (p.Val253Ile)
|
rs864622520
|
|
NM_016239.4(MYO15A):c.484_488delinsACTT (p.Arg162fs)
|
|
|
NM_016239.4(MYO15A):c.6004del (p.Glu2002fs)
|
|
|
NM_017617.5(NOTCH1):c.977dup (p.Trp327fs)
|
|
|
NM_017662.5(TRPM6):c.2323C>T (p.Gln775Ter)
|
|
|
NM_017841.4(SDHAF2):c.295_296del (p.Glu99fs)
|
|
|
NM_017946.4(FKBP14):c.467_468del (p.Leu155_Ser156insTer)
|
rs753775062
|
|
NM_018105.3(THAP1):c.62C>T (p.Ser21Phe)
|
rs1064797344
|
|
NM_018122.5(DARS2):c.1440G>A (p.Trp480Ter)
|
|
|
NM_019616.4(F7):c.1057C>T (p.Arg353Trp)
|
|
|
NM_019616.4(F7):c.385T>C (p.Cys129Arg)
|
|
|
NM_019616.4(F7):c.739+1G>A
|
|
|
NM_019616.4(F7):c.739+3_739+6del
|
rs754785708
|
|
NM_020435.4(GJC2):c.742C>T (p.Gln248Ter)
|
rs1389799347
|
|
NM_020451.3(SELENON):c.184-2A>G
|
rs2124437555
|
|
NM_020549.5(CHAT):c.1254del (p.Asn419fs)
|
rs1272947184
|
|
NM_020631.6(PLEKHG5):c.1738G>T (p.Glu580Ter)
|
rs760122001
|
|
NM_020821.3(VPS13C):c.9244C>T (p.Gln3082Ter)
|
|
|
NM_020975.6(RET):c.1831T>A (p.Cys611Ser)
|
rs377767391
|
|
NM_021005.4(NR2F2):c.83_84dup (p.Val29fs)
|
rs1555446983
|
|
NM_021830.5(TWNK):c.68del (p.Gly23fs)
|
rs2133934281
|
|
NM_021870.3(FGG):c.1019C>T (p.Thr340Ile)
|
|
|
NM_021870.3(FGG):c.1086G>A (p.Met362Ile)
|
rs2110841438
|
|
NM_021870.3(FGG):c.1172A>T (p.Asn391Ile)
|
|
|
NM_021871.4(FGA):c.1452del (p.Ser485fs)
|
|
|
NM_021964.3(ZNF148):c.2334_2335del (p.Arg778fs)
|
rs1553802038
|
|
NM_022124.6(CDH23):c.1152C>A (p.Ser384Arg)
|
|
|
NM_022436.3(ABCG5):c.634+1G>C
|
rs370368811
|
|
NM_024306.5(FA2H):c.443C>T (p.Pro148Leu)
|
rs372350326
|
|
NM_024577.4(SH3TC2):c.2403_2404delinsAA (p.Cys801_Leu802delinsTer)
|
rs2127397160
|
|
NM_025099.6(CTC1):c.2996dup (p.Pro999_Glu1000insTer)
|
rs1567599993
|
|
NM_025193.4(HSD3B7):c.1025del (p.Phe342fs)
|
|
|
NM_030632.3(ASXL3):c.4072_4085del (p.Val1358fs)
|
rs1555744039
|
|
NM_031229.4(RBCK1):c.1258_1259dup (p.Arg421fs)
|
rs2122333654
|
|
NM_032043.3(BRIP1):c.2990_2993del (p.Thr997fs)
|
rs771028677
|
|
NM_032119.4(ADGRV1):c.425dup (p.Asn142fs)
|
|
|
NM_032638.5(GATA2):c.1085G>A (p.Arg362Gln)
|
rs867160952
|
|
NM_032638.5(GATA2):c.1121G>A (p.Gly374Asp)
|
rs1559985057
|
|
NM_032638.5(GATA2):c.569_570insAAGC (p.Ala191fs)
|
|
|
NM_032638.5(GATA2):c.894_895del (p.Cys298fs)
|
|
|
NM_033198.4(PIGS):c.398del (p.Glu133fs)
|
|
|
NM_033305.3(VPS13A):c.882+2T>G
|
|
|
NM_033337.3(CAV3):c.57C>A (p.Cys19Ter)
|
rs1182984115
|
|
NM_033380.3(COL4A5):c.874G>A (p.Gly292Arg)
|
rs104886073
|
|
NM_054012.4(ASS1):c.539G>T (p.Ser180Ile)
|
rs121908638
|
|
NM_138694.4(PKHD1):c.11089C>T (p.Gln3697Ter)
|
|
|
NM_138694.4(PKHD1):c.8461del (p.Glu2821fs)
|
rs2151160725
|
|
NM_139027.6(ADAMTS13):c.2317C>T (p.Gln773Ter)
|
|
|
NM_139027.6(ADAMTS13):c.305G>A (p.Arg102His)
|
|
|
NM_139027.6(ADAMTS13):c.702C>A (p.His234Gln)
|
rs281875304
|
|
NM_144997.7(FLCN):c.1150_1160del (p.Val384fs)
|
|
|
NM_144997.7(FLCN):c.1176+2T>A
|
rs2046947920
|
|
NM_144997.7(FLCN):c.1232_1233dup (p.Ala412fs)
|
|
|
NM_144997.7(FLCN):c.1432+1G>A
|
rs755959303
|
|
NM_144997.7(FLCN):c.189del (p.Ala64fs)
|
rs876660611
|
|
NM_144997.7(FLCN):c.521_527del (p.Thr174fs)
|
rs1085307478
|
|
NM_144997.7(FLCN):c.618+1G>A
|
|
|
NM_144997.7(FLCN):c.753G>A (p.Trp251Ter)
|
|
|
NM_145239.3(PRRT2):c.963_978delinsTA (p.Val322fs)
|
rs2142429320
|
|
NM_152419.3(HGSNAT):c.1170del (p.Trp390fs)
|
rs748387885
|
|
NM_152564.5(VPS13B):c.4771C>T (p.Arg1591Ter)
|
rs752429062
|
|
NM_153700.2(STRC):c.4171C>G (p.Arg1391Gly)
|
rs376104748
|
|
NM_153700.2(STRC):c.5125A>G (p.Thr1709Ala)
|
rs1336307815
|
|
NM_170707.4(LMNA):c.1046G>T (p.Arg349Leu)
|
rs58789393
|
|
NM_172107.4(KCNQ2):c.2514dup (p.Ser839fs)
|
|
|
NM_172107.4(KCNQ2):c.927+1G>A
|
rs1555870346
|
|
NM_172351.3(CD46):c.153del (p.Lys51fs)
|
rs2102538157
|
|
NM_172351.3(CD46):c.469T>C (p.Cys157Arg)
|
rs2102552865
|
|
NM_172351.3(CD46):c.97G>C (p.Asp33His)
|
rs2102512645
|
|
NM_177924.5(ASAH1):c.3G>T (p.Met1Ile)
|
rs966267709
|
|
NM_182961.4(SYNE1):c.10549C>T (p.Gln3517Ter)
|
|
|
NM_182961.4(SYNE1):c.1418dup (p.Asn473fs)
|
rs2154279887
|
|
NM_182961.4(SYNE1):c.5639_5652del (p.Leu1880fs)
|
|
|
NM_183050.4(BCKDHB):c.212T>G (p.Met71Arg)
|
rs2127726114
|
|
NM_183050.4(BCKDHB):c.991G>A (p.Ala331Thr)
|
rs1777825845
|
|
NM_198253.3(TERT):c.2147C>G (p.Ala716Gly)
|
|
|
NM_198253.3(TERT):c.2638G>A (p.Ala880Thr)
|
rs1748613571
|
|
NM_201525.4(ADGRG1):c.272G>C (p.Cys91Ser)
|
rs121908465
|
|
NM_207111.4(RNF216):c.345_351del (p.Asn116fs)
|
|
|
Single allele
|
|
|