NM_000243.3(MEFV):c.2084A>G (p.Lys695Arg)
|
rs104895094
|
0.00506
|
NM_000492.4(CFTR):c.2991G>C (p.Leu997Phe)
|
rs1800111
|
0.00208
|
NM_002693.3(POLG):c.1760C>T (p.Pro587Leu)
|
rs113994096
|
0.00160
|
NM_002693.3(POLG):c.752C>T (p.Thr251Ile)
|
rs113994094
|
0.00159
|
NM_003119.4(SPG7):c.1045G>A (p.Gly349Ser)
|
rs141659620
|
0.00103
|
NM_000492.4(CFTR):c.2249C>T (p.Pro750Leu)
|
rs140455771
|
0.00041
|
NM_001282225.2(ADA2):c.506G>A (p.Arg169Gln)
|
rs77563738
|
0.00041
|
NM_000492.4(CFTR):c.1865G>A (p.Gly622Asp)
|
rs121908759
|
0.00039
|
NM_000492.4(CFTR):c.3154T>G (p.Phe1052Val)
|
rs150212784
|
0.00039
|
NM_001367624.2(ZNF469):c.19C>T (p.Arg7Ter)
|
rs1004428835
|
0.00037
|
NM_000492.4(CFTR):c.3205G>A (p.Gly1069Arg)
|
rs200321110
|
0.00035
|
NM_000492.4(CFTR):c.1327G>T (p.Asp443Tyr)
|
rs147422190
|
0.00034
|
NM_012275.3(IL36RN):c.115+6T>C
|
rs148755083
|
0.00021
|
NM_000492.4(CFTR):c.3041A>G (p.Tyr1014Cys)
|
rs149279509
|
0.00019
|
NM_000243.3(MEFV):c.800C>T (p.Thr267Ile)
|
rs104895081
|
0.00011
|
NM_000492.4(CFTR):c.1001G>A (p.Arg334Gln)
|
rs397508137
|
0.00011
|
NM_025137.4(SPG11):c.5381T>C (p.Leu1794Pro)
|
rs201689565
|
0.00011
|
NM_001282225.2(ADA2):c.1358A>G (p.Tyr453Cys)
|
rs376785840
|
0.00007
|
NM_006767.4(LZTR1):c.1084C>T (p.Arg362Ter)
|
rs189150283
|
0.00007
|
NM_000478.6(ALPL):c.407G>A (p.Arg136His)
|
rs121918011
|
0.00006
|
NM_000492.4(CFTR):c.571T>G (p.Phe191Val)
|
rs141482808
|
0.00006
|
NM_002693.3(POLG):c.868C>T (p.Arg290Cys)
|
rs753416225
|
0.00006
|
NM_006767.4(LZTR1):c.1397G>A (p.Arg466Gln)
|
rs587777180
|
0.00006
|
NM_000492.4(CFTR):c.3200C>T (p.Ala1067Val)
|
rs1800114
|
0.00005
|
NM_000204.5(CFI):c.1429+1G>C
|
rs368555424
|
0.00004
|
NM_000243.3(MEFV):c.501G>C (p.Glu167Asp)
|
rs104895079
|
0.00004
|
NM_001367624.2(ZNF469):c.10324del (p.Arg3442fs)
|
rs756543273
|
0.00004
|
NM_005343.4(HRAS):c.36C>T (p.Gly12=)
|
rs727504424
|
0.00004
|
NM_016630.7(SPG21):c.452+2T>C
|
rs755390093
|
0.00004
|
NM_020944.3(GBA2):c.1A>T (p.Met1Leu)
|
rs770566458
|
0.00004
|
NM_025132.4(WDR19):c.3565+1G>A
|
rs587777352
|
0.00004
|
NM_000204.5(CFI):c.1071T>G (p.Ile357Met)
|
rs200881135
|
0.00003
|
NM_003119.4(SPG7):c.1552+1G>T
|
rs141644720
|
0.00003
|
NM_014625.4(NPHS2):c.714G>T (p.Arg238Ser)
|
rs748812981
|
0.00003
|
NM_183075.3(CYP2U1):c.1462C>T (p.Arg488Trp)
|
rs141431913
|
0.00003
|
NM_199242.3(UNC13D):c.2258G>T (p.Gly753Val)
|
rs1418183549
|
0.00003
|
NM_000431.4(MVK):c.830G>A (p.Arg277His)
|
rs104895352
|
0.00002
|
NM_001282225.2(ADA2):c.336C>G (p.His112Gln)
|
rs587777241
|
0.00002
|
NM_004646.4(NPHS1):c.1379G>A (p.Arg460Gln)
|
rs386833880
|
0.00002
|
NM_004646.4(NPHS1):c.2600G>A (p.Gly867Asp)
|
rs753656470
|
0.00002
|
NM_005633.4(SOS1):c.755T>C (p.Ile252Thr)
|
rs142094234
|
0.00002
|
NM_183235.3(RAB27A):c.244C>T (p.Arg82Cys)
|
rs753966933
|
0.00002
|
NM_000081.4(LYST):c.5784+2C>T
|
rs763156837
|
0.00001
|
NM_000089.4(COL1A2):c.1404+1G>A
|
rs67162110
|
0.00001
|
NM_000089.4(COL1A2):c.2701G>A (p.Gly901Ser)
|
rs72659306
|
0.00001
|
NM_000243.3(MEFV):c.1321C>T (p.Arg441Ter)
|
rs768066753
|
0.00001
|
NM_000302.4(PLOD1):c.1906C>T (p.Gln636Ter)
|
rs1439043436
|
0.00001
|
NM_000431.4(MVK):c.613A>G (p.Asn205Asp)
|
rs104895364
|
0.00001
|
NM_000431.4(MVK):c.873C>A (p.Tyr291Ter)
|
rs1566150887
|
0.00001
|
NM_000478.6(ALPL):c.227A>G (p.Gln76Arg)
|
rs1057521085
|
0.00001
|
NM_000478.6(ALPL):c.550C>T (p.Arg184Trp)
|
rs763159520
|
0.00001
|
NM_000492.4(CFTR):c.1724T>A (p.Phe575Tyr)
|
rs773569201
|
0.00001
|
NM_000492.4(CFTR):c.2417A>G (p.Asp806Gly)
|
rs397508375
|
0.00001
|
NM_000492.4(CFTR):c.2930C>T (p.Ser977Phe)
|
rs141033578
|
0.00001
|
NM_000492.4(CFTR):c.3873G>C (p.Gln1291His)
|
rs121909015
|
0.00001
|
NM_001083116.3(PRF1):c.1304C>T (p.Thr435Met)
|
rs28933376
|
0.00001
|
NM_001083116.3(PRF1):c.916G>A (p.Gly306Ser)
|
rs763002067
|
0.00001
|
NM_001166114.2(PNPLA6):c.4046G>A (p.Arg1349Gln)
|
rs368661376
|
0.00001
|
NM_001253852.3(AP4B1):c.1216C>T (p.Arg406Ter)
|
rs776976178
|
0.00001
|
NM_001287.6(CLCN7):c.856C>T (p.Arg286Trp)
|
rs1291061962
|
0.00001
|
NM_001365276.2(TNXB):c.4957C>T (p.Arg1653Ter)
|
rs201184519
|
0.00001
|
NM_001375808.2(LPIN2):c.1204_1205dup (p.Asp402fs)
|
rs779553737
|
0.00001
|
NM_002335.4(LRP5):c.3834G>A (p.Trp1278Ter)
|
rs2098673217
|
0.00001
|
NM_002524.5(NRAS):c.35G>A (p.Gly12Asp)
|
rs121913237
|
0.00001
|
NM_003119.4(SPG7):c.2249C>T (p.Pro750Leu)
|
rs879253797
|
0.00001
|
NM_004646.4(NPHS1):c.1099C>T (p.Arg367Cys)
|
rs386833865
|
0.00001
|
NM_014363.6(SACS):c.11624G>A (p.Arg3875His)
|
rs863224916
|
0.00001
|
NM_014855.3(AP5Z1):c.1543C>T (p.Gln515Ter)
|
rs1342590804
|
0.00001
|
NM_014855.3(AP5Z1):c.271C>T (p.Arg91Ter)
|
rs767325342
|
0.00001
|
NM_014946.4(SPAST):c.1685G>A (p.Arg562Gln)
|
rs863224923
|
0.00001
|
NM_015346.4(ZFYVE26):c.3382C>T (p.Gln1128Ter)
|
rs988442865
|
0.00001
|
NM_015346.4(ZFYVE26):c.4114_4115insGAAGGGC (p.Ala1372fs)
|
rs950356390
|
0.00001
|
NM_015915.5(ATL1):c.1246C>T (p.Arg416Cys)
|
rs387906941
|
0.00001
|
NM_022356.4(P3H1):c.1096C>T (p.Arg366Ter)
|
rs752575140
|
0.00001
|
NM_022489.4(INF2):c.641G>A (p.Arg214His)
|
rs267606879
|
0.00001
|
NM_144687.4(NLRP12):c.2757-1G>T
|
rs143515989
|
0.00001
|
NM_183075.3(CYP2U1):c.343G>A (p.Gly115Ser)
|
rs766889023
|
0.00001
|
NM_183235.3(RAB27A):c.400_401del (p.Lys134fs)
|
rs755338751
|
0.00001
|
NM_199242.3(UNC13D):c.1229_1230dup (p.Arg411fs)
|
rs747180228
|
0.00001
|
NM_000081.4(LYST):c.2741_2742del (p.Glu914fs)
|
rs2102864339
|
|
NM_000088.4(COL1A1):c.1057-2A>T
|
rs66511271
|
|
NM_000088.4(COL1A1):c.1608_1609del (p.Ala537fs)
|
rs2144570980
|
|
NM_000088.4(COL1A1):c.1614+1G>T
|
rs72648357
|
|
NM_000088.4(COL1A1):c.1745del (p.Phe582fs)
|
rs2144569160
|
|
NM_000088.4(COL1A1):c.1948G>C (p.Gly650Arg)
|
rs72651626
|
|
NM_000088.4(COL1A1):c.2074G>T (p.Gly692Cys)
|
rs1907108266
|
|
NM_000088.4(COL1A1):c.2097del (p.Asn700fs)
|
rs72651643
|
|
NM_000088.4(COL1A1):c.2397dup (p.Gly800fs)
|
rs1906989648
|
|
NM_000088.4(COL1A1):c.2452G>A (p.Gly818Ser)
|
rs1598290382
|
|
NM_000088.4(COL1A1):c.2489G>A (p.Gly830Asp)
|
rs1906940342
|
|
NM_000088.4(COL1A1):c.2507G>A (p.Gly836Asp)
|
rs72653130
|
|
NM_000088.4(COL1A1):c.2525dup (p.Ala844fs)
|
rs1114167392
|
|
NM_000088.4(COL1A1):c.3009del (p.Gly1004fs)
|
rs2144547648
|
|
NM_000088.4(COL1A1):c.3141TCCTGGTGC[3] (p.Gly1055_Pro1056insAlaProGly)
|
rs74315111
|
|
NM_000088.4(COL1A1):c.3209G>A (p.Gly1070Asp)
|
rs1275118660
|
|
NM_000088.4(COL1A1):c.334-9A>G
|
rs1567764387
|
|
NM_000088.4(COL1A1):c.3531+1G>A
|
rs72656326
|
|
NM_000088.4(COL1A1):c.543+2T>C
|
rs2144588834
|
|
NM_000088.4(COL1A1):c.904-1G>T
|
rs1907593112
|
|
NM_000088.4(COL1A1):c.916_917del (p.Leu306fs)
|
rs2144580715
|
|
NM_000088.4(COL1A1):c.958-1G>C
|
rs72645352
|
|
NM_000088.4(COL1A1):c.977dup (p.Ala327fs)
|
rs2144579919
|
|
NM_000088.4(COL1A1):c.994_1001del (p.Gly332fs)
|
rs2144579745
|
|
NM_000089.4(COL1A2):c.1171G>A (p.Gly391Ser)
|
rs67707918
|
|
NM_000089.4(COL1A2):c.1496G>C (p.Gly499Ala)
|
rs72658122
|
|
NM_000089.4(COL1A2):c.1503+1G>A
|
rs1554396615
|
|
NM_000089.4(COL1A2):c.1838G>A (p.Gly613Glu)
|
rs2115917195
|
|
NM_000089.4(COL1A2):c.1864G>T (p.Gly622Cys)
|
rs2115921275
|
|
NM_000089.4(COL1A2):c.1937G>T (p.Gly646Val)
|
rs72658150
|
|
NM_000089.4(COL1A2):c.2270G>A (p.Gly757Asp)
|
rs72658178
|
|
NM_000089.4(COL1A2):c.2314G>A (p.Gly772Ser)
|
rs72658185
|
|
NM_000089.4(COL1A2):c.2737G>A (p.Gly913Ser)
|
rs1305819869
|
|
NM_000089.4(COL1A2):c.486+2T>G
|
rs2115877489
|
|
NM_000089.4(COL1A2):c.713G>T (p.Gly238Val)
|
rs1188265845
|
|
NM_000090.4(COL3A1):c.2113G>A (p.Gly705Arg)
|
rs587779623
|
|
NM_000090.4(COL3A1):c.2122G>A (p.Gly708Ser)
|
rs2153503019
|
|
NM_000090.4(COL3A1):c.2815G>C (p.Gly939Arg)
|
rs587779550
|
|
NM_000090.4(COL3A1):c.582+1G>C
|
rs587779508
|
|
NM_000090.4(COL3A1):c.721G>A (p.Glu241Lys)
|
rs1553507432
|
|
NM_000090.4(COL3A1):c.971G>T (p.Gly324Val)
|
rs2153502168
|
|
NM_000091.5(COL4A3):c.2656+1G>T
|
|
|
NM_000092.5(COL4A4):c.4440C>A (p.Cys1480Ter)
|
|
|
NM_000093.4(COL5A1):c.4646dupG
|
rs2132879262
|
|
NM_000093.5(COL5A1):c.3259G>T (p.Gly1087Ter)
|
rs2132830435
|
|
NM_000093.5(COL5A1):c.3809_3810dup (p.Pro1271fs)
|
rs2132848217
|
|
NM_000093.5(COL5A1):c.4014+1G>A
|
rs2132854041
|
|
NM_000093.5(COL5A1):c.5031del (p.Ser1678fs)
|
rs2132887747
|
|
NM_000093.5(COL5A1):c.655-2A>T
|
rs786205101
|
|
NM_000112.4(SLC26A2):c.1487_1488insGGCG (p.Lys497fs)
|
rs2113698812
|
|
NM_000138.5(FBN1):c.2227C>T (p.Arg743Cys)
|
rs794728188
|
|
NM_000138.5(FBN1):c.4725_4726insTACACATCCTTGTGAG (p.Met1576delinsTyrThrSerLeuTer)
|
rs2141272274
|
|
NM_000138.5(FBN1):c.5183C>T (p.Ala1728Val)
|
rs1131691804
|
|
NM_000138.5(FBN1):c.5999G>T (p.Cys2000Phe)
|
rs1555395645
|
|
NM_000186.4(CFH):c.3644G>T (p.Arg1215Leu)
|
|
|
NM_000186.4(CFH):c.47del (p.Cys16fs)
|
|
|
NM_000243.3(MEFV):c.1437C>G (p.Phe479Leu)
|
rs104895083
|
|
NM_000243.3(MEFV):c.656dup (p.Ala220fs)
|
rs774061491
|
|
NM_000302.4(PLOD1):c.979dup (p.Gln327fs)
|
rs2100754171
|
|
NM_000346.4(SOX9):c.1132C>T (p.Gln378Ter)
|
rs2143254539
|
|
NM_000346.4(SOX9):c.1379_1380dup (p.Gly461fs)
|
rs2143257416
|
|
NM_000346.4(SOX9):c.68del (p.Ser23fs)
|
rs2143236734
|
|
NM_000451.4(SHOX):c.348del (p.Lys116fs)
|
rs2124165604
|
|
NM_000478.6(ALPL):c.978CTT[2] (p.Phe328del)
|
rs753338851
|
|
NM_000478.6(ALPL):c.980T>G (p.Phe327Cys)
|
rs779832611
|
|
NM_000492.4(CFTR):c.1052C>G (p.Thr351Ser)
|
rs1800086
|
|
NM_000492.4(CFTR):c.4056G>C (p.Gln1352His)
|
rs113857788
|
|
NM_001011658.4(TRAPPC2):c.248T>C (p.Phe83Ser)
|
rs104894948
|
|
NM_001042492.3(NF1):c.1073_1074insA (p.Phe358fs)
|
rs1555610971
|
|
NM_001042492.3(NF1):c.108_111dup (p.His38Ter)
|
rs2065655815
|
|
NM_001042492.3(NF1):c.1129_1136del (p.Ile377fs)
|
rs2066520145
|
|
NM_001042492.3(NF1):c.1181_1182dup (p.Lys395fs)
|
rs1597682159
|
|
NM_001042492.3(NF1):c.1185G>A (p.Lys395=)
|
rs1567835847
|
|
NM_001042492.3(NF1):c.1254del (p.Thr419fs)
|
rs761430357
|
|
NM_001042492.3(NF1):c.1496T>G (p.Leu499Arg)
|
rs1555612288
|
|
NM_001042492.3(NF1):c.1722-2A>C
|
rs763983337
|
|
NM_001042492.3(NF1):c.1733T>G (p.Leu578Arg)
|
rs199474774
|
|
NM_001042492.3(NF1):c.1738del (p.Tyr580fs)
|
rs786204255
|
|
NM_001042492.3(NF1):c.1931_1934del (p.Ser644fs)
|
rs2066991740
|
|
NM_001042492.3(NF1):c.1986del (p.Asn664fs)
|
rs2066993468
|
|
NM_001042492.3(NF1):c.2084T>C (p.Leu695Pro)
|
rs199474761
|
|
NM_001042492.3(NF1):c.2251+1G>T
|
rs1555613843
|
|
NM_001042492.3(NF1):c.2325G>A (p.Glu775=)
|
rs1555613932
|
|
NM_001042492.3(NF1):c.2326-1G>C
|
rs1567848100
|
|
NM_001042492.3(NF1):c.2326-4_2326-1del
|
rs2067037065
|
|
NM_001042492.3(NF1):c.2350T>A (p.Trp784Arg)
|
rs199474730
|
|
NM_001042492.3(NF1):c.245C>T (p.Ser82Phe)
|
rs199474729
|
|
NM_001042492.3(NF1):c.2531T>C (p.Leu844Pro)
|
rs137854566
|
|
NM_001042492.3(NF1):c.2693T>C (p.Leu898Pro)
|
rs199474786
|
|
NM_001042492.3(NF1):c.270_272dup (p.Glu91dup)
|
rs2065717991
|
|
NM_001042492.3(NF1):c.2835del (p.Phe945fs)
|
rs1567849208
|
|
NM_001042492.3(NF1):c.2855_2856insG (p.Leu953fs)
|
rs2067082667
|
|
NM_001042492.3(NF1):c.2894_2900del (p.Ile965fs)
|
rs2067083472
|
|
NM_001042492.3(NF1):c.2940del (p.Glu981fs)
|
rs2067084312
|
|
NM_001042492.3(NF1):c.3007_3020del (p.Gly1003fs)
|
rs2067090473
|
|
NM_001042492.3(NF1):c.3009_3018del (p.Asn1004fs)
|
rs2067090561
|
|
NM_001042492.3(NF1):c.3063_3067dup (p.Met1023delinsLysTer)
|
rs2067092112
|
|
NM_001042492.3(NF1):c.3114-1G>A
|
rs1555614611
|
|
NM_001042492.3(NF1):c.3196del (p.Arg1066fs)
|
rs2067102964
|
|
NM_001042492.3(NF1):c.3211G>C (p.Ala1071Pro)
|
rs2067122183
|
|
NM_001042492.3(NF1):c.3250C>T (p.Pro1084Ser)
|
rs1555614848
|
|
NM_001042492.3(NF1):c.3362_3365del (p.Glu1121fs)
|
rs2067135200
|
|
NM_001042492.3(NF1):c.3736_3737del (p.Leu1246fs)
|
rs2067186293
|
|
NM_001042492.3(NF1):c.3818del (p.Thr1273fs)
|
rs2067188459
|
|
NM_001042492.3(NF1):c.3826del (p.Arg1276fs)
|
rs2067188667
|
|
NM_001042492.3(NF1):c.3834C>G (p.Asn1278Lys)
|
rs1135402850
|
|
NM_001042492.3(NF1):c.3911T>G (p.Leu1304Ter)
|
rs761512189
|
|
NM_001042492.3(NF1):c.4018del (p.Leu1340fs)
|
rs2067448975
|
|
NM_001042492.3(NF1):c.4099_4108dup (p.Gln1370fs)
|
rs2067451446
|
|
NM_001042492.3(NF1):c.4185dup (p.Arg1396fs)
|
rs2067620305
|
|
NM_001042492.3(NF1):c.4208del (p.Gly1403fs)
|
rs2067621019
|
|
NM_001042492.3(NF1):c.4231C>T (p.Leu1411Phe)
|
rs199474789
|
|
NM_001042492.3(NF1):c.4367del (p.Thr1456fs)
|
rs2067637088
|
|
NM_001042492.3(NF1):c.4489del (p.Ser1497fs)
|
rs2067664000
|
|
NM_001042492.3(NF1):c.4556G>A (p.Gly1519Glu)
|
rs1567863004
|
|
NM_001042492.3(NF1):c.4619_4622delinsAA (p.Ala1540fs)
|
rs2067690116
|
|
NM_001042492.3(NF1):c.4885del (p.Leu1628_Leu1629insTer)
|
rs2069326575
|
|
NM_001042492.3(NF1):c.5030TCTATA[1] (p.Ile1679_Tyr1680del)
|
rs1135402868
|
|
NM_001042492.3(NF1):c.5044T>C (p.Cys1682Arg)
|
rs1597829901
|
|
NM_001042492.3(NF1):c.5236dup (p.Leu1746fs)
|
rs2069337884
|
|
NM_001042492.3(NF1):c.5311A>G (p.Lys1771Glu)
|
rs1131691103
|
|
NM_001042492.3(NF1):c.5329del (p.Val1777fs)
|
rs2069377259
|
|
NM_001042492.3(NF1):c.5374del (p.Cys1792fs)
|
rs2069378463
|
|
NM_001042492.3(NF1):c.5387del (p.Glu1796fs)
|
rs2069379168
|
|
NM_001042492.3(NF1):c.5552C>T (p.Pro1851Leu)
|
rs1555533638
|
|
NM_001042492.3(NF1):c.5606dup (p.Leu1869fs)
|
rs2069386536
|
|
NM_001042492.3(NF1):c.5668G>C (p.Gly1890Arg)
|
rs1597834706
|
|
NM_001042492.3(NF1):c.5731dup (p.Ile1911fs)
|
rs2069452094
|
|
NM_001042492.3(NF1):c.573del (p.Lys191fs)
|
rs2065904589
|
|
NM_001042492.3(NF1):c.5812+2_5812+3insTA
|
rs2069454921
|
|
NM_001042492.3(NF1):c.5852dup (p.Trp1952fs)
|
rs2069602426
|
|
NM_001042492.3(NF1):c.58C>T (p.Gln20Ter)
|
rs1567786905
|
|
NM_001042492.3(NF1):c.5933T>C (p.Leu1978Pro)
|
rs2069606635
|
|
NM_001042492.3(NF1):c.60+1G>C
|
rs1555594500
|
|
NM_001042492.3(NF1):c.610dup (p.Leu204fs)
|
rs1135402793
|
|
NM_001042492.3(NF1):c.6147+1G>C
|
rs1060500296
|
|
NM_001042492.3(NF1):c.6148-1G>C
|
rs1555534661
|
|
NM_001042492.3(NF1):c.6148-2A>G
|
rs2069681259
|
|
NM_001042492.3(NF1):c.6221del (p.Met2074fs)
|
rs2069683635
|
|
NM_001042492.3(NF1):c.6252C>A (p.Tyr2084Ter)
|
rs2069684411
|
|
NM_001042492.3(NF1):c.6374T>G (p.Leu2125Arg)
|
rs1597843129
|
|
NM_001042492.3(NF1):c.6401_6402del (p.Cys2134fs)
|
rs1597843186
|
|
NM_001042492.3(NF1):c.6675G>A (p.Trp2225Ter)
|
rs2069717916
|
|
NM_001042492.3(NF1):c.6819G>T (p.Lys2273Asn)
|
rs1060500373
|
|
NM_001042492.3(NF1):c.6829_6830del (p.Ser2277fs)
|
rs2069742524
|
|
NM_001042492.3(NF1):c.6833dup (p.Cys2278fs)
|
rs1555535027
|
|
NM_001042492.3(NF1):c.6921G>C (p.Lys2307Asn)
|
rs1057523533
|
|
NM_001042492.3(NF1):c.6939del (p.Ala2314fs)
|
rs2069790028
|
|
NM_001042492.3(NF1):c.6994_6995delinsATTT (p.Ser2332fs)
|
rs2069792273
|
|
NM_001042492.3(NF1):c.7062+2del
|
rs2069795581
|
|
NM_001042492.3(NF1):c.7278_7279del (p.Cys2426_Asp2427delinsTer)
|
rs2070076932
|
|
NM_001042492.3(NF1):c.7317AGC[1] (p.Ala2441del)
|
rs1085307506
|
|
NM_001042492.3(NF1):c.737C>A (p.Ala246Glu)
|
rs2066155612
|
|
NM_001042492.3(NF1):c.7456_7457+7del
|
rs2070109067
|
|
NM_001042492.3(NF1):c.7537C>T (p.Gln2513Ter)
|
rs2070170274
|
|
NM_001042492.3(NF1):c.7615+1del
|
rs1355691590
|
|
NM_001042492.3(NF1):c.7947_7948del (p.Phe2650fs)
|
rs2070298589
|
|
NM_001042492.3(NF1):c.808C>T (p.Gln270Ter)
|
rs1555608970
|
|
NM_001042492.3(NF1):c.8142del (p.Phe2714fs)
|
rs2070340004
|
|
NM_001065.4(TNFRSF1A):c.123T>G (p.Asp41Glu)
|
rs104895271
|
|
NM_001065.4(TNFRSF1A):c.214T>C (p.Cys72Arg)
|
rs104895238
|
|
NM_001065.4(TNFRSF1A):c.215G>T (p.Cys72Phe)
|
rs104895252
|
|
NM_001083116.3(PRF1):c.1595del (p.Gly532fs)
|
rs2132474852
|
|
NM_001083116.3(PRF1):c.523del (p.Glu175fs)
|
rs2132477884
|
|
NM_001083116.3(PRF1):c.902C>A (p.Ser301Ter)
|
rs1259291325
|
|
NM_001166114.2(PNPLA6):c.1345del (p.Leu449fs)
|
rs781364197
|
|
NM_001167.4(XIAP):c.862G>T (p.Gly288Ter)
|
rs2148090291
|
|
NM_001189.4(NKX3-2):c.94_100dup (p.Pro34fs)
|
rs2109005842
|
|
NM_001199138.2(NLRC4):c.1015C>G (p.Leu339Val)
|
rs1553347334
|
|
NM_001199138.2(NLRC4):c.1630G>T (p.Glu544Ter)
|
rs774546369
|
|
NM_001243133.2(NLRP3):c.1051G>A (p.Val351Met)
|
rs180177463
|
|
NM_001243133.2(NLRP3):c.1562T>A (p.Met521Lys)
|
rs2103111391
|
|
NM_001243133.2(NLRP3):c.1880A>G (p.Glu627Gly)
|
rs121908148
|
|
NM_001243133.2(NLRP3):c.914T>C (p.Leu305Pro)
|
rs180177431
|
|
NM_001244008.2(KIF1A):c.1115T>C (p.Leu372Pro)
|
rs2052246987
|
|
NM_001244008.2(KIF1A):c.41C>T (p.Pro14Leu)
|
rs879253976
|
|
NM_001244008.2(KIF1A):c.946C>T (p.Arg316Trp)
|
rs672601370
|
|
NM_001282225.2(ADA2):c.1397_1403del (p.Lys466fs)
|
rs754904956
|
|
NM_001365276.2(TNXB):c.10623_10624del (p.Pro3542fs)
|
rs755541448
|
|
NM_001365276.2(TNXB):c.3942dup (p.Thr1315fs)
|
rs2127254498
|
|
NM_001365276.2(TNXB):c.8247del (p.Asp2750fs)
|
rs2151900685
|
|
NM_001365276.2(TNXB):c.9497A>T (p.Glu3166Val)
|
rs2151892576
|
|
NM_001365276.2(TNXB):c.9498_9499del (p.Glu3166fs)
|
rs2151892569
|
|
NM_001365276.2(TNXB):c.9511G>T (p.Glu3171Ter)
|
rs2151892548
|
|
NM_001365276.2(TNXB):c.9668dup (p.Leu3224fs)
|
rs773500008
|
|
NM_001367624.2(ZNF469):c.8806G>T (p.Glu2936Ter)
|
rs762301873
|
|
NM_001370466.1(NOD2):c.1345A>C (p.Thr449Pro)
|
rs925816831
|
|
NM_001371279.1(REEP1):c.113G>A (p.Trp38Ter)
|
rs1060503494
|
|
NM_001371279.1(REEP1):c.379_389dup (p.Ala132fs)
|
rs2104223760
|
|
NM_001371279.1(REEP1):c.52del (p.Tyr18fs)
|
rs2104395088
|
|
NM_001371279.1(REEP1):c.550C>T (p.Gln184Ter)
|
rs2104051740
|
|
NM_001457.4(FLNB):c.482T>G (p.Phe161Cys)
|
rs80356506
|
|
NM_001457.4(FLNB):c.541+1G>A
|
rs2106947027
|
|
NM_001844.5(COL2A1):c.1267-2A>G
|
rs2136576254
|
|
NM_001844.5(COL2A1):c.1420G>A (p.Gly474Ser)
|
rs2136571594
|
|
NM_001844.5(COL2A1):c.1673G>A (p.Gly558Glu)
|
rs2136567637
|
|
NM_001844.5(COL2A1):c.2050G>A (p.Gly684Ser)
|
rs1231988113
|
|
NM_001844.5(COL2A1):c.2321G>A (p.Gly774Asp)
|
rs2136546742
|
|
NM_001844.5(COL2A1):c.2546G>C (p.Gly849Ala)
|
rs1939004215
|
|
NM_001844.5(COL2A1):c.2680-1G>A
|
rs2136532474
|
|
NM_001844.5(COL2A1):c.2950G>C (p.Gly984Arg)
|
rs2136526413
|
|
NM_001844.5(COL2A1):c.3022G>T (p.Gly1008Cys)
|
rs2136525233
|
|
NM_001844.5(COL2A1):c.3050G>A (p.Gly1017Asp)
|
rs2136525107
|
|
NM_001844.5(COL2A1):c.4317+1G>A
|
rs2136504667
|
|
NM_001844.5(COL2A1):c.4387_4389del (p.Ile1463del)
|
rs527236145
|
|
NM_001844.5(COL2A1):c.604_609+2del
|
rs2136621947
|
|
NM_001851.6(COL9A1):c.9dup (p.Cys4fs)
|
rs1404756199
|
|
NM_001853.4(COL9A3):c.528dup (p.Ile177fs)
|
rs2147205530
|
|
NM_001853.4(COL9A3):c.638del (p.Pro213fs)
|
rs2147208638
|
|
NM_001972.4(ELANE):c.159C>G (p.His53Gln)
|
rs2145144118
|
|
NM_001972.4(ELANE):c.91del (p.Val31fs)
|
rs2145143911
|
|
NM_001999.4(FBN2):c.1723+1G>T
|
rs2126960067
|
|
NM_002292.4(LAMB2):c.2369C>G (p.Ser790Ter)
|
|
|
NM_002335.4(LRP5):c.1A>G (p.Met1Val)
|
rs2153110162
|
|
NM_002335.4(LRP5):c.512G>T (p.Gly171Val)
|
rs121908668
|
|
NM_002335.4(LRP5):c.884-2A>G
|
rs2153140527
|
|
NM_002351.5(SH2D1A):c.201+3A>G
|
rs2147531380
|
|
NM_002351.5(SH2D1A):c.261del (p.Gln88fs)
|
rs2147534056
|
|
NM_002351.5(SH2D1A):c.2T>C (p.Met1Thr)
|
rs2147519353
|
|
NM_002524.5(NRAS):c.179G>T (p.Gly60Val)
|
rs267606920
|
|
NM_002615.7(SERPINF1):c.787-10C>G
|
rs1908037067
|
|
NM_002755.4(MAP2K1):c.343C>G (p.Leu115Val)
|
rs1428775799
|
|
NM_002834.5(PTPN11):c.1520C>A (p.Thr507Lys)
|
rs886039463
|
|
NM_002834.5(PTPN11):c.1529A>T (p.Gln510Leu)
|
|
|
NM_002834.5(PTPN11):c.214G>A (p.Ala72Thr)
|
rs121918453
|
|
NM_002834.5(PTPN11):c.923A>C (p.Asn308Thr)
|
rs121918455
|
|
NM_002834.5(PTPN11):c.991C>T (p.Gln331Ter)
|
rs2135901920
|
|
NM_002860.4(ALDH18A1):c.1111C>T (p.Arg371Ter)
|
rs775201668
|
|
NM_002880.4(RAF1):c.781C>A (p.Pro261Thr)
|
rs121434594
|
|
NM_002880.4(RAF1):c.782C>G (p.Pro261Arg)
|
rs397516828
|
|
NM_003072.5(SMARCA4):c.1420-1G>T
|
|
|
NM_003119.4(SPG7):c.1948G>T (p.Asp650Tyr)
|
rs769602042
|
|
NM_003119.4(SPG7):c.1996G>A (p.Gly666Arg)
|
rs752989523
|
|
NM_003119.4(SPG7):c.244C>T (p.Gln82Ter)
|
rs146115797
|
|
NM_003242.6(TGFBR2):c.1582C>G (p.Arg528Gly)
|
rs104893810
|
|
NM_004239.4(TRIP11):c.1081C>T (p.Gln361Ter)
|
rs2057009434
|
|
NM_004239.4(TRIP11):c.2949_2952del (p.Gln984fs)
|
rs1447415684
|
|
NM_004333.6(BRAF):c.1391G>T (p.Gly464Val)
|
rs121913348
|
|
NM_004333.6(BRAF):c.1454T>C (p.Leu485Ser)
|
rs397507475
|
|
NM_004456.5(EZH2):c.1891del (p.Ile631fs)
|
|
|
NM_004621.6(TRPC6):c.2346dup (p.Trp783fs)
|
|
|
NM_004646.4(NPHS1):c.3549C>A (p.Tyr1183Ter)
|
rs767887213
|
|
NM_004820.5(CYP7B1):c.314dup (p.Asn105fs)
|
rs747514385
|
|
NM_004820.5(CYP7B1):c.650dup (p.Leu217fs)
|
rs1298132281
|
|
NM_004984.4(KIF5A):c.610C>T (p.Arg204Trp)
|
rs1555177629
|
|
NM_004984.4(KIF5A):c.839G>A (p.Arg280His)
|
rs387907288
|
|
NM_005188.4(CBL):c.1516C>T (p.Arg506Ter)
|
rs886041500
|
|
NM_005188.4(CBL):c.1930G>T (p.Asp644Tyr)
|
rs2135311043
|
|
NM_005343.4(HRAS):c.182A>G (p.Gln61Arg)
|
rs121913233
|
|
NM_005343.4(HRAS):c.35G>A (p.Gly12Asp)
|
rs104894230
|
|
NM_005633.4(SOS1):c.1300G>A (p.Gly434Arg)
|
rs397517148
|
|
NM_005633.4(SOS1):c.1867T>A (p.Phe623Ile)
|
rs727505093
|
|
NM_005902.4(SMAD3):c.594del (p.His198fs)
|
rs2140296876
|
|
NM_006459.4(ERLIN1):c.753del (p.Phe252fs)
|
rs2134100639
|
|
NM_006517.5(SLC16A2):c.1111C>T (p.Arg371Cys)
|
rs587784384
|
|
NM_006579.3(EBP):c.238G>A (p.Glu80Lys)
|
rs104894800
|
|
NM_006612.6(KIF1C):c.183G>A (p.Ser61=)
|
rs886041035
|
|
NM_006642.5(SDCCAG8):c.495dup (p.Ser166fs)
|
|
|
NM_006642.5(SDCCAG8):c.99_100del (p.Ala35fs)
|
rs1033766338
|
|
NM_006767.4(LZTR1):c.1925del (p.Asp642fs)
|
rs2147968505
|
|
NM_006767.4(LZTR1):c.2350C>T (p.Gln784Ter)
|
rs1489766065
|
|
NM_006767.4(LZTR1):c.2405del (p.Lys802fs)
|
rs1601723893
|
|
NM_006912.6(RIT1):c.246T>G (p.Phe82Leu)
|
rs730881014
|
|
NM_006912.6(RIT1):c.270G>A (p.Met90Ile)
|
rs483352822
|
|
NM_006912.6(RIT1):c.270G>C (p.Met90Ile)
|
rs483352822
|
|
NM_014363.6(SACS):c.4117G>T (p.Ala1373Ser)
|
rs61326562
|
|
NM_014363.6(SACS):c.4118C>A (p.Ala1373Glu)
|
rs61548169
|
|
NM_014363.6(SACS):c.8584A>T (p.Lys2862Ter)
|
rs2137590717
|
|
NM_014363.6(SACS):c.8793dup (p.Arg2932fs)
|
rs767871841
|
|
NM_014363.6(SACS):c.9081dup (p.Asp3028Ter)
|
rs2137586930
|
|
NM_014846.4(WASHC5):c.1876G>T (p.Val626Phe)
|
rs80338867
|
|
NM_014855.3(AP5Z1):c.295del (p.Leu99fs)
|
rs2115103191
|
|
NM_014855.3(AP5Z1):c.868del (p.Arg290fs)
|
rs756556933
|
|
NM_014946.4(SPAST):c.1082del (p.Pro361fs)
|
rs2148734593
|
|
NM_014946.4(SPAST):c.1091G>C (p.Arg364Thr)
|
rs1553315355
|
|
NM_014946.4(SPAST):c.1111C>T (p.Leu371Phe)
|
rs1060499670
|
|
NM_014946.4(SPAST):c.1151C>G (p.Pro384Arg)
|
rs1573139616
|
|
NM_014946.4(SPAST):c.1209C>A (p.Phe403Leu)
|
rs1553317030
|
|
NM_014946.4(SPAST):c.1345G>T (p.Glu449Ter)
|
rs2148753960
|
|
NM_014946.4(SPAST):c.1361A>G (p.Glu454Gly)
|
rs2148753986
|
|
NM_014946.4(SPAST):c.1379G>A (p.Arg460His)
|
rs1553318241
|
|
NM_014946.4(SPAST):c.1390G>A (p.Glu464Lys)
|
rs1679556566
|
|
NM_014946.4(SPAST):c.1493+2_1493+5del
|
rs1558337180
|
|
NM_014946.4(SPAST):c.1495C>T (p.Arg499Cys)
|
rs121908511
|
|
NM_014946.4(SPAST):c.1676G>A (p.Gly559Asp)
|
rs864622179
|
|
NM_014946.4(SPAST):c.1689_1690insACTAAAACC (p.Glu563_Leu564insThrLysThr)
|
rs2148762766
|
|
NM_014946.4(SPAST):c.1841C>T (p.Thr614Ile)
|
rs1573186691
|
|
NM_014946.4(SPAST):c.358del (p.His120fs)
|
rs2148685798
|
|
NM_014946.4(SPAST):c.361A>T (p.Lys121Ter)
|
rs1553394620
|
|
NM_014946.4(SPAST):c.871-1G>A
|
rs1057524526
|
|
NM_014946.4(SPAST):c.902_903dup (p.Ser302fs)
|
rs2148734025
|
|
NM_014946.4(SPAST):c.962_974del (p.Asp321fs)
|
rs1553315223
|
|
NM_015102.5(NPHP4):c.12G>A (p.Trp4Ter)
|
rs780905861
|
|
NM_015214.3(DDHD2):c.856C>T (p.Gln286Ter)
|
rs764638887
|
|
NM_015346.4(ZFYVE26):c.3642_3643insCCACACTTAG (p.Ala1215fs)
|
rs773333879
|
|
NM_015697.9(COQ2):c.48dup (p.Ala17fs)
|
rs767298430
|
|
NM_015915.5(ATL1):c.1217AGA[1] (p.Lys407del)
|
rs1595625099
|
|
NM_015915.5(ATL1):c.1306_1308del (p.Asn436del)
|
rs1595625206
|
|
NM_016630.7(SPG21):c.613C>T (p.Gln205Ter)
|
rs2140415380
|
|
NM_021625.5(TRPV4):c.2146G>A (p.Ala716Thr)
|
rs121912635
|
|
NM_022356.4(P3H1):c.1667del (p.Asp556fs)
|
rs2124093521
|
|
NM_022489.4(INF2):c.451T>C (p.Cys151Arg)
|
|
|
NM_024306.5(FA2H):c.227G>A (p.Trp76Ter)
|
rs1225330805
|
|
NM_024426.6(WT1):c.1400G>A (p.Arg467Gln)
|
rs121907903
|
|
NM_024753.5(TTC21B):c.901C>T (p.Arg301Cys)
|
rs1437304335
|
|
NM_025137.4(SPG11):c.1435C>T (p.Gln479Ter)
|
rs2141105806
|
|
NM_025137.4(SPG11):c.1478_1482del (p.Leu493fs)
|
rs758015273
|
|
NM_025137.4(SPG11):c.2570G>A (p.Trp857Ter)
|
rs2141027825
|
|
NM_025137.4(SPG11):c.278del (p.Arg93fs)
|
rs2141130246
|
|
NM_025137.4(SPG11):c.5972del (p.Cys1991fs)
|
rs2082503070
|
|
NM_025137.4(SPG11):c.6449_6455del (p.Leu2150fs)
|
rs1304713296
|
|
NM_025137.4(SPG11):c.6500del (p.Gly2167fs)
|
rs2140921013
|
|
NM_030662.4(MAP2K2):c.400T>C (p.Tyr134His)
|
rs121434499
|
|
NM_033380.3(COL4A5):c.4184dup (p.Pro1396fs)
|
|
|
NM_033380.3(COL4A5):c.4706G>A (p.Arg1569Gln)
|
rs281874743
|
|
NM_144687.4(NLRP12):c.2072+2dup
|
rs104895565
|
|
NM_144687.4(NLRP12):c.2186_2187insTT (p.Val730fs)
|
rs1600700389
|
|
NM_148919.4(PSMB8):c.481C>T (p.Gln161Ter)
|
rs2127377117
|
|
NM_152594.3(SPRED1):c.1044_1056del (p.Gly350fs)
|
rs2141016462
|
|
NM_152594.3(SPRED1):c.1248T>A (p.Cys416Ter)
|
rs2141016711
|
|
NM_152594.3(SPRED1):c.163del (p.Cys55fs)
|
rs2140978513
|
|
NM_152594.3(SPRED1):c.916A>T (p.Lys306Ter)
|
rs1300035418
|
|
NM_152594.3(SPRED1):c.926_927del (p.Val309fs)
|
rs2141016305
|
|
NM_172351.3(CD46):c.83del (p.Leu28fs)
|
|
|
NM_173841.3(IL1RN):c.10+2T>C
|
rs2104433206
|
|
NM_183235.3(RAB27A):c.422_424del (p.Arg141_Val142delinsIle)
|
rs1478402636
|
|
NM_199242.3(UNC13D):c.1807G>T (p.Glu603Ter)
|
rs755348845
|
|
NM_199242.3(UNC13D):c.1813_1830del (p.Leu605_Arg610del)
|
rs2143878241
|
|
NM_199242.3(UNC13D):c.2259C>A (p.Gly753=)
|
rs1354115593
|
|
NM_199242.3(UNC13D):c.2261A>C (p.His754Pro)
|
rs1446115570
|
|
NM_199242.3(UNC13D):c.247C>T (p.Arg83Ter)
|
rs1274685768
|
|
NM_199242.3(UNC13D):c.3097del (p.Glu1033fs)
|
rs2143860891
|
|