NM_004612.4(TGFBR1):c.*2103T>G
|
rs7871490
|
0.12488
|
NM_053025.4(MYLK):c.*77dup
|
rs886057857
|
0.00661
|
NM_000138.5(FBN1):c.*1580G>A
|
rs17352989
|
0.00504
|
NM_004612.4(TGFBR1):c.*2081G>T
|
rs200898127
|
0.00465
|
NM_017668.3(NDE1):c.*238C>G
|
rs7196012
|
0.00411
|
NM_053025.4(MYLK):c.*1302T>C
|
rs113046889
|
0.00373
|
NM_004612.4(TGFBR1):c.*2092G>T
|
rs199545273
|
0.00369
|
NM_000138.5(FBN1):c.*1298C>G
|
rs143446014
|
0.00360
|
NM_003238.6(TGFB2):c.619G>C (p.Val207Leu)
|
rs10482810
|
0.00359
|
NM_017668.3(NDE1):c.*286G>A
|
rs558625464
|
0.00322
|
NM_053025.4(MYLK):c.*76_*77insAC
|
rs879035240
|
0.00269
|
NM_000071.3(CBS):c.1105C>T (p.Arg369Cys)
|
rs117687681
|
0.00255
|
NM_053025.4(MYLK):c.24C>G (p.Ala8=)
|
rs78118111
|
0.00229
|
NM_002474.3(MYH11):c.4604G>A (p.Arg1535Gln)
|
rs137934837
|
0.00216
|
NM_017668.3(NDE1):c.*1808T>G
|
rs147741620
|
0.00215
|
NM_000138.5(FBN1):c.*1245C>T
|
rs181099623
|
0.00207
|
NM_053025.4(MYLK):c.5441C>T (p.Thr1814Ile)
|
rs142220417
|
0.00197
|
NM_002474.3(MYH11):c.2961C>T (p.Ile987=)
|
rs137988790
|
0.00155
|
NM_000138.5(FBN1):c.*1252A>G
|
rs566419089
|
0.00150
|
NM_002474.3(MYH11):c.5566C>T (p.Leu1856=)
|
rs142639688
|
0.00150
|
NM_000138.5(FBN1):c.8502T>C (p.Thr2834=)
|
rs363847
|
0.00148
|
NM_000138.5(FBN1):c.-176A>T
|
rs560004254
|
0.00145
|
NM_000138.5(FBN1):c.*2398G>T
|
rs377530465
|
0.00135
|
NM_003242.6(TGFBR2):c.*742C>T
|
rs17026328
|
0.00125
|
NM_053025.4(MYLK):c.4415+9A>G
|
rs187964526
|
0.00125
|
NM_000138.5(FBN1):c.6681A>C (p.Ser2227=)
|
rs363824
|
0.00109
|
NM_000138.5(FBN1):c.2956G>A (p.Ala986Thr)
|
rs112287730
|
0.00107
|
NM_000138.5(FBN1):c.*2045G>A
|
rs372254135
|
0.00106
|
NM_000302.4(PLOD1):c.137G>A (p.Arg46His)
|
rs142710681
|
0.00105
|
NM_000138.5(FBN1):c.*2024A>G
|
rs558488257
|
0.00103
|
NM_003239.5(TGFB3):c.164G>A (p.Ser55Asn)
|
rs143229915
|
0.00100
|
NM_017617.5(NOTCH1):c.5506G>A (p.Asp1836Asn)
|
rs200100726
|
0.00093
|
NM_053025.4(MYLK):c.3706A>G (p.Met1236Val)
|
rs113124819
|
0.00092
|
NM_000138.5(FBN1):c.783T>C (p.Asn261=)
|
rs113721547
|
0.00091
|
NM_017668.3(NDE1):c.*897_*898insC
|
rs1555553475
|
0.00089
|
NM_017617.5(NOTCH1):c.6980G>A (p.Arg2327Gln)
|
rs202065858
|
0.00088
|
NM_000090.4(COL3A1):c.1550C>T (p.Pro517Leu)
|
rs142085247
|
0.00080
|
NM_000302.4(PLOD1):c.776G>A (p.Arg259His)
|
rs144226170
|
0.00076
|
NM_000138.5(FBN1):c.*2091G>A
|
rs575922741
|
0.00073
|
NM_030777.4(SLC2A10):c.1010G>C (p.Gly337Ala)
|
rs150745395
|
0.00071
|
NM_002474.3(MYH11):c.1871G>A (p.Arg624His)
|
rs201991156
|
0.00068
|
NM_000138.5(FBN1):c.*779C>T
|
rs113200355
|
0.00064
|
NM_017617.5(NOTCH1):c.4898G>A (p.Arg1633His)
|
rs375018022
|
0.00064
|
NM_003238.6(TGFB2):c.823A>G (p.Ser275Gly)
|
rs139825195
|
0.00062
|
NM_000138.5(FBN1):c.*1341C>T
|
rs766719764
|
0.00061
|
NM_017617.5(NOTCH1):c.4168C>A (p.Pro1390Thr)
|
rs191645600
|
0.00061
|
NM_017668.3(NDE1):c.947+6903A>G
|
rs558010405
|
0.00061
|
NM_030777.4(SLC2A10):c.1415C>T (p.Thr472Ile)
|
rs563376340
|
0.00061
|
NM_000302.4(PLOD1):c.785C>T (p.Thr262Ile)
|
rs147940796
|
0.00058
|
NM_017617.5(NOTCH1):c.7606G>A (p.Val2536Ile)
|
rs111627256
|
0.00058
|
NM_017617.5(NOTCH1):c.6291G>A (p.Pro2097=)
|
rs201987555
|
0.00057
|
NM_004612.4(TGFBR1):c.46G>A (p.Val16Met)
|
rs1021523079
|
0.00055
|
NM_001613.4(ACTA2):c.*28A>T
|
rs143005546
|
0.00054
|
NM_053025.4(MYLK):c.1219G>T (p.Gly407Cys)
|
rs199719143
|
0.00053
|
NM_000138.5(FBN1):c.7346A>G (p.Asn2449Ser)
|
rs146166400
|
0.00049
|
NM_017617.5(NOTCH1):c.3970G>A (p.Val1324Met)
|
rs149057410
|
0.00048
|
NM_053025.4(MYLK):c.1474G>A (p.Ala492Thr)
|
rs143010767
|
0.00048
|
NM_003242.6(TGFBR2):c.649G>C (p.Ala217Pro)
|
rs149141477
|
0.00046
|
NM_017617.5(NOTCH1):c.6409C>T (p.Pro2137Ser)
|
rs372698234
|
0.00046
|
NM_017617.5(NOTCH1):c.1553C>T (p.Thr518Met)
|
rs377535397
|
0.00044
|
NM_000138.5(FBN1):c.*43A>T
|
rs144710695
|
0.00043
|
NM_001999.4(FBN2):c.1435G>A (p.Gly479Arg)
|
rs147346327
|
0.00041
|
NM_017617.5(NOTCH1):c.701G>A (p.Arg234His)
|
rs150737112
|
0.00041
|
NM_000393.5(COL5A2):c.2492G>C (p.Gly831Ala)
|
rs141210030
|
0.00039
|
NM_002474.3(MYH11):c.5529G>A (p.Ser1843=)
|
rs146024732
|
0.00039
|
NM_000071.3(CBS):c.394C>T (p.Arg132Cys)
|
rs140002610
|
0.00038
|
NM_000138.5(FBN1):c.2895G>A (p.Glu965=)
|
rs140591
|
0.00038
|
NM_002474.3(MYH11):c.5273G>A (p.Arg1758Gln)
|
rs142546324
|
0.00038
|
NM_003238.6(TGFB2):c.588C>T (p.Gly196=)
|
rs192335285
|
0.00038
|
NM_002474.3(MYH11):c.5271C>A (p.Asp1757Glu)
|
rs146043349
|
0.00036
|
NM_002474.3(MYH11):c.5470G>A (p.Ala1824Thr)
|
rs147710374
|
0.00036
|
NM_002474.3(MYH11):c.5499G>C (p.Glu1833Asp)
|
rs145252402
|
0.00036
|
NM_004612.4(TGFBR1):c.1433A>G (p.Asn478Ser)
|
rs141259922
|
0.00036
|
NM_000138.5(FBN1):c.*2395G>A
|
rs184719603
|
0.00035
|
NM_004612.4(TGFBR1):c.*1772A>C
|
rs201191009
|
0.00035
|
NM_017617.5(NOTCH1):c.4014G>A (p.Ala1338=)
|
rs377217445
|
0.00035
|
NM_000138.5(FBN1):c.4270C>G (p.Pro1424Ala)
|
rs201273753
|
0.00034
|
NM_000302.4(PLOD1):c.608G>A (p.Arg203His)
|
rs145482271
|
0.00034
|
NM_002474.3(MYH11):c.472G>A (p.Ala158Thr)
|
rs375998236
|
0.00034
|
NM_004612.4(TGFBR1):c.*311G>A
|
rs200804500
|
0.00034
|
NM_017617.5(NOTCH1):c.1981G>A (p.Gly661Ser)
|
rs201077220
|
0.00034
|
NM_017668.3(NDE1):c.948-9293G>A
|
rs374454501
|
0.00034
|
NM_030777.4(SLC2A10):c.676G>A (p.Asp226Asn)
|
rs142402955
|
0.00034
|
NM_002474.3(MYH11):c.3858+480A>G
|
rs886051758
|
0.00033
|
NM_002474.3(MYH11):c.5275G>A (p.Val1759Ile)
|
rs138059405
|
0.00033
|
NM_000302.4(PLOD1):c.52G>A (p.Ala18Thr)
|
rs373165011
|
0.00032
|
NM_001110556.2(FLNA):c.65A>G (p.Asp22Gly)
|
rs782598729
|
0.00032
|
NM_053025.4(MYLK):c.256C>T (p.Arg86Trp)
|
rs368822172
|
0.00032
|
NM_002474.3(MYH11):c.5450C>T (p.Ala1817Val)
|
rs142654744
|
0.00031
|
NM_002474.3(MYH11):c.5528C>T (p.Ser1843Leu)
|
rs148621523
|
0.00031
|
NM_017617.5(NOTCH1):c.2674C>T (p.Arg892Cys)
|
rs578228721
|
0.00031
|
NM_017617.5(NOTCH1):c.7223T>C (p.Leu2408Pro)
|
rs767728582
|
0.00031
|
NM_000138.5(FBN1):c.4640C>T (p.Thr1547Ile)
|
rs183306990
|
0.00030
|
NM_053025.4(MYLK):c.4844C>T (p.Ala1615Val)
|
rs202177283
|
0.00030
|
NM_053025.4(MYLK):c.716C>T (p.Ser239Leu)
|
rs137982786
|
0.00030
|
NM_000138.5(FBN1):c.*1720C>T
|
rs557301792
|
0.00029
|
NM_000138.5(FBN1):c.2175T>C (p.Asn725=)
|
rs140606
|
0.00029
|
NM_053025.4(MYLK):c.2125G>A (p.Val709Met)
|
rs112537316
|
0.00029
|
NM_001999.4(FBN2):c.217C>A (p.Arg73Ser)
|
rs148493036
|
0.00028
|
NM_002474.3(MYH11):c.2075C>T (p.Ala692Val)
|
rs148893135
|
0.00028
|
NM_000138.5(FBN1):c.-136G>C
|
rs879283668
|
0.00027
|
NM_006258.4(PRKG1):c.1466A>T (p.Tyr489Phe)
|
rs149710600
|
0.00027
|
NM_000138.5(FBN1):c.*1949T>C
|
rs534577080
|
0.00026
|
NM_000393.5(COL5A2):c.2963C>T (p.Thr988Met)
|
rs369072636
|
0.00026
|
NM_001999.4(FBN2):c.2651G>C (p.Ser884Thr)
|
rs139035999
|
0.00026
|
NM_002474.3(MYH11):c.914A>G (p.Asn305Ser)
|
rs185661462
|
0.00026
|
NM_030777.4(SLC2A10):c.931G>A (p.Val311Ile)
|
rs139932041
|
0.00026
|
NM_000302.4(PLOD1):c.1427A>G (p.Lys476Arg)
|
rs576907642
|
0.00025
|
NM_005902.4(SMAD3):c.207-10G>A
|
rs201912204
|
0.00025
|
NM_030777.4(SLC2A10):c.*8G>A
|
rs375282462
|
0.00025
|
NM_000138.5(FBN1):c.*1706C>A
|
rs770825180
|
0.00024
|
NM_002474.3(MYH11):c.2802G>A (p.Glu934=)
|
rs138977949
|
0.00024
|
NM_017617.5(NOTCH1):c.5189C>T (p.Pro1730Leu)
|
rs375897519
|
0.00024
|
NM_053025.4(MYLK):c.69A>T (p.Arg23Ser)
|
rs146297620
|
0.00024
|
NM_000138.5(FBN1):c.6314-15G>A
|
rs200841830
|
0.00023
|
NM_004612.4(TGFBR1):c.*2095T>G
|
rs201780012
|
0.00023
|
NM_030777.4(SLC2A10):c.317C>G (p.Ala106Gly)
|
rs144095826
|
0.00023
|
NM_053025.4(MYLK):c.4184T>C (p.Leu1395Pro)
|
rs146576868
|
0.00023
|
NM_000093.5(COL5A1):c.1637C>T (p.Ala546Val)
|
rs557361751
|
0.00022
|
NM_000138.5(FBN1):c.*1432A>T
|
rs750902806
|
0.00022
|
NM_004612.4(TGFBR1):c.*2799C>T
|
rs200274678
|
0.00022
|
NM_005902.4(SMAD3):c.-244G>A
|
rs886051374
|
0.00022
|
NM_006258.4(PRKG1):c.893C>T (p.Thr298Ile)
|
rs140716870
|
0.00022
|
NM_017668.3(NDE1):c.*943C>T
|
rs149894916
|
0.00022
|
NM_053025.4(MYLK):c.5477C>T (p.Ala1826Val)
|
rs147187907
|
0.00022
|
NM_053025.4(MYLK):c.842A>G (p.Lys281Arg)
|
rs147770839
|
0.00022
|
NM_000138.5(FBN1):c.1027G>A (p.Gly343Arg)
|
rs146726731
|
0.00021
|
NM_001999.4(FBN2):c.3394G>A (p.Val1132Ile)
|
rs138834515
|
0.00021
|
NM_001999.4(FBN2):c.8282C>T (p.Ala2761Val)
|
rs201962592
|
0.00021
|
NM_002474.3(MYH11):c.1078G>A (p.Val360Ile)
|
rs111677442
|
0.00021
|
NM_003242.6(TGFBR2):c.4G>T (p.Gly2Cys)
|
rs565502802
|
0.00021
|
NM_017617.5(NOTCH1):c.2263_2265del (p.Asn755del)
|
rs587778559
|
0.00021
|
NM_017617.5(NOTCH1):c.7387G>A (p.Ala2463Thr)
|
rs537210445
|
0.00021
|
NM_030777.4(SLC2A10):c.1481A>G (p.Tyr494Cys)
|
rs374854180
|
0.00021
|
NM_000071.3(CBS):c.856A>G (p.Ile286Val)
|
rs147040567
|
0.00020
|
NM_002474.3(MYH11):c.4603C>T (p.Arg1535Trp)
|
rs143402648
|
0.00020
|
NM_004612.4(TGFBR1):c.-13T>C
|
rs886063220
|
0.00020
|
NM_017617.5(NOTCH1):c.1787C>T (p.Thr596Met)
|
rs61755997
|
0.00020
|
NM_053025.4(MYLK):c.3525C>T (p.Asp1175=)
|
rs147735490
|
0.00020
|
NM_000043.6(FAS):c.-10C>A
|
rs200181814
|
0.00019
|
NM_000071.3(CBS):c.5C>T (p.Pro2Leu)
|
rs546530618
|
0.00019
|
NM_000093.5(COL5A1):c.3649C>T (p.Pro1217Ser)
|
rs139116598
|
0.00019
|
NM_000093.5(COL5A1):c.4162C>T (p.Pro1388Ser)
|
rs61737942
|
0.00019
|
NM_000093.5(COL5A1):c.944C>T (p.Thr315Met)
|
rs145093766
|
0.00019
|
NM_000138.5(FBN1):c.7852G>A (p.Gly2618Arg)
|
rs141133182
|
0.00019
|
NM_000302.4(PLOD1):c.1172A>G (p.Asn391Ser)
|
rs763409574
|
0.00019
|
NM_000393.5(COL5A2):c.2533G>A (p.Val845Ile)
|
rs375124784
|
0.00019
|
NM_003036.4(SKI):c.2174A>C (p.Glu725Ala)
|
rs747798210
|
0.00019
|
NM_004612.4(TGFBR1):c.214A>T (p.Ile72Leu)
|
rs111513627
|
0.00019
|
NM_030777.4(SLC2A10):c.388C>T (p.Arg130Trp)
|
rs201150247
|
0.00019
|
NM_053025.4(MYLK):c.257G>A (p.Arg86Gln)
|
rs138265409
|
0.00019
|
NM_000138.5(FBN1):c.3590-8T>C
|
rs140600
|
0.00018
|
NM_000138.5(FBN1):c.4727T>C (p.Met1576Thr)
|
rs776625874
|
0.00018
|
NM_000138.5(FBN1):c.76G>C (p.Asp26His)
|
rs146267697
|
0.00018
|
NM_000138.5(FBN1):c.902G>T (p.Gly301Val)
|
rs142888621
|
0.00018
|
NM_003239.5(TGFB3):c.412T>G (p.Ser138Ala)
|
rs201453600
|
0.00018
|
NM_004612.4(TGFBR1):c.*3314A>G
|
rs200374520
|
0.00018
|
NM_017617.5(NOTCH1):c.2218G>A (p.Asp740Asn)
|
rs200816814
|
0.00018
|
NM_017617.5(NOTCH1):c.3644-5C>T
|
rs371070297
|
0.00018
|
NM_053025.4(MYLK):c.1612C>T (p.Arg538Trp)
|
rs55672414
|
0.00018
|
NM_053025.4(MYLK):c.2461C>T (p.Arg821Trp)
|
rs150007422
|
0.00018
|
NM_053025.4(MYLK):c.2662C>T (p.Arg888Cys)
|
rs147332242
|
0.00018
|
NM_000090.4(COL3A1):c.560C>T (p.Thr187Ile)
|
rs371583734
|
0.00017
|
NM_000093.5(COL5A1):c.803G>T (p.Gly268Val)
|
rs145552797
|
0.00017
|
NM_001999.4(FBN2):c.7700C>T (p.Thr2567Ile)
|
rs150672907
|
0.00017
|
NM_005902.4(SMAD3):c.-265T>G
|
rs886051373
|
0.00017
|
NM_017617.5(NOTCH1):c.454G>A (p.Gly152Ser)
|
rs750242131
|
0.00017
|
NM_017617.5(NOTCH1):c.839A>G (p.Asn280Ser)
|
rs367825691
|
0.00017
|
NM_000093.5(COL5A1):c.3130G>A (p.Ala1044Thr)
|
rs370143255
|
0.00016
|
NM_000138.5(FBN1):c.3454G>A (p.Ala1152Thr)
|
rs140890215
|
0.00016
|
NM_000138.5(FBN1):c.59A>G (p.Tyr20Cys)
|
rs201309310
|
0.00016
|
NM_000138.5(FBN1):c.6380-3A>G
|
rs567703513
|
0.00016
|
NM_000138.5(FBN1):c.8027C>T (p.Pro2676Leu)
|
rs146469379
|
0.00016
|
NM_000302.4(PLOD1):c.1667A>G (p.Tyr556Cys)
|
rs146360295
|
0.00016
|
NM_000302.4(PLOD1):c.648G>T (p.Glu216Asp)
|
rs150852515
|
0.00016
|
NM_000393.5(COL5A2):c.2117C>T (p.Pro706Leu)
|
rs146175905
|
0.00016
|
NM_000393.5(COL5A2):c.263C>A (p.Pro88His)
|
rs149877855
|
0.00016
|
NM_001999.4(FBN2):c.3862G>A (p.Glu1288Lys)
|
rs371512923
|
0.00016
|
NM_002474.3(MYH11):c.3291C>T (p.Ala1097=)
|
rs147605116
|
0.00016
|
NM_002474.3(MYH11):c.3932C>T (p.Ala1311Val)
|
rs185720909
|
0.00016
|
NM_002474.3(MYH11):c.5094C>T (p.Ala1698=)
|
rs771742318
|
0.00016
|
NM_005902.4(SMAD3):c.636G>A (p.Met212Ile)
|
rs202094530
|
0.00016
|
NM_005902.4(SMAD3):c.984G>A (p.Pro328=)
|
rs150994304
|
0.00016
|
NM_017617.5(NOTCH1):c.2191C>T (p.Arg731Trp)
|
rs199666126
|
0.00016
|
NM_017617.5(NOTCH1):c.3011C>T (p.Ser1004Leu)
|
rs201163739
|
0.00016
|
NM_000090.4(COL3A1):c.3325C>G (p.Arg1109Gly)
|
rs112371422
|
0.00015
|
NM_000093.5(COL5A1):c.680T>C (p.Val227Ala)
|
rs376144196
|
0.00015
|
NM_000138.5(FBN1):c.3423G>A (p.Pro1141=)
|
rs140396599
|
0.00015
|
NM_000138.5(FBN1):c.7056C>T (p.Ser2352=)
|
rs149697299
|
0.00015
|
NM_000138.5(FBN1):c.863-3C>T
|
rs955955089
|
0.00015
|
NM_000302.4(PLOD1):c.472A>G (p.Ile158Val)
|
rs147924545
|
0.00015
|
NM_002474.3(MYH11):c.1749+4C>G
|
rs776271431
|
0.00015
|
NM_002474.3(MYH11):c.3766A>C (p.Lys1256Gln)
|
rs149241435
|
0.00015
|
NM_003238.6(TGFB2):c.199G>A (p.Val67Met)
|
rs201761868
|
0.00015
|
NM_017617.5(NOTCH1):c.4988G>A (p.Arg1663Gln)
|
rs749490844
|
0.00015
|
NM_030777.4(SLC2A10):c.1370C>T (p.Ala457Val)
|
rs201393026
|
0.00015
|
NM_000090.4(COL3A1):c.3413C>T (p.Pro1138Leu)
|
rs201880122
|
0.00014
|
NM_000093.5(COL5A1):c.1295C>T (p.Pro432Leu)
|
rs140943202
|
0.00014
|
NM_000093.5(COL5A1):c.4121C>T (p.Thr1374Met)
|
rs151115748
|
0.00014
|
NM_000138.5(FBN1):c.1571C>T (p.Thr524Met)
|
rs370575495
|
0.00014
|
NM_000138.5(FBN1):c.3936C>T (p.Ser1312=)
|
rs779913610
|
0.00014
|
NM_000138.5(FBN1):c.4001G>A (p.Gly1334Asp)
|
rs191989961
|
0.00014
|
NM_000138.5(FBN1):c.5917+3A>G
|
rs202158568
|
0.00014
|
NM_000138.5(FBN1):c.7455T>G (p.Asp2485Glu)
|
rs377272529
|
0.00014
|
NM_000138.5(FBN1):c.7661G>A (p.Arg2554Gln)
|
rs199522781
|
0.00014
|
NM_000302.4(PLOD1):c.1321C>T (p.Arg441Trp)
|
rs11553676
|
0.00014
|
NM_000393.5(COL5A2):c.322+1G>C
|
rs770598613
|
0.00014
|
NM_001110556.2(FLNA):c.2813C>T (p.Thr938Met)
|
rs782180774
|
0.00014
|
NM_001999.4(FBN2):c.2536G>A (p.Glu846Lys)
|
rs375666281
|
0.00014
|
NM_001999.4(FBN2):c.6064G>A (p.Ala2022Thr)
|
rs545524318
|
0.00014
|
NM_001999.4(FBN2):c.68C>G (p.Ala23Gly)
|
rs199560824
|
0.00014
|
NM_002474.3(MYH11):c.5247G>A (p.Gln1749=)
|
rs757501817
|
0.00014
|
NM_002474.3(MYH11):c.5516C>T (p.Ala1839Val)
|
rs112948385
|
0.00014
|
NM_017617.5(NOTCH1):c.*5C>T
|
rs746945124
|
0.00014
|
NM_017617.5(NOTCH1):c.2354-5T>C
|
rs371944522
|
0.00014
|
NM_017617.5(NOTCH1):c.631A>G (p.Thr211Ala)
|
rs376902925
|
0.00014
|
NM_017617.5(NOTCH1):c.6376G>A (p.Gly2126Arg)
|
rs572960572
|
0.00014
|
NM_017617.5(NOTCH1):c.6509G>A (p.Ser2170Asn)
|
rs200254239
|
0.00014
|
NM_017668.3(NDE1):c.990G>A (p.Arg330=)
|
rs143588920
|
0.00014
|
NM_030777.4(SLC2A10):c.1600C>T (p.Arg534Cys)
|
rs142577271
|
0.00014
|
NM_053025.4(MYLK):c.3448+15G>A
|
rs199789942
|
0.00014
|
NM_053025.4(MYLK):c.3610C>T (p.Arg1204Trp)
|
rs151294221
|
0.00014
|
NM_053025.4(MYLK):c.4593G>C (p.Lys1531Asn)
|
rs200949109
|
0.00014
|
NM_000071.3(CBS):c.1072G>A (p.Val358Met)
|
rs148589243
|
0.00013
|
NM_000071.3(CBS):c.670C>T (p.Arg224Cys)
|
rs139456571
|
0.00013
|
NM_000090.4(COL3A1):c.3299G>A (p.Arg1100His)
|
rs370069953
|
0.00013
|
NM_000093.5(COL5A1):c.409G>A (p.Val137Ile)
|
rs145757313
|
0.00013
|
NM_000138.5(FBN1):c.4748-12T>A
|
rs368723745
|
0.00013
|
NM_000302.4(PLOD1):c.839T>C (p.Ile280Thr)
|
rs199669594
|
0.00013
|
NM_000393.5(COL5A2):c.4358G>A (p.Arg1453Gln)
|
rs149064715
|
0.00013
|
NM_001999.4(FBN2):c.2252A>C (p.Glu751Ala)
|
rs147610681
|
0.00013
|
NM_002474.3(MYH11):c.4034G>A (p.Arg1345Gln)
|
rs150883363
|
0.00013
|
NM_002474.3(MYH11):c.4822G>A (p.Glu1608Lys)
|
rs777768672
|
0.00013
|
NM_002474.3(MYH11):c.4994G>T (p.Arg1665Leu)
|
rs144813247
|
0.00013
|
NM_003239.5(TGFB3):c.1169A>T (p.Tyr390Phe)
|
rs996297395
|
0.00013
|
NM_005902.4(SMAD3):c.*2285G>A
|
rs62014609
|
0.00013
|
NM_005902.4(SMAD3):c.*2403C>T
|
rs755985886
|
0.00013
|
NM_017617.5(NOTCH1):c.19C>T (p.Pro7Ser)
|
rs1397523469
|
0.00013
|
NM_017617.5(NOTCH1):c.2206G>A (p.Gly736Arg)
|
rs201662530
|
0.00013
|
NM_017617.5(NOTCH1):c.851C>T (p.Pro284Leu)
|
rs376104770
|
0.00013
|
NM_053025.4(MYLK):c.2629G>A (p.Val877Met)
|
rs34542174
|
0.00013
|
NM_000138.5(FBN1):c.185G>A (p.Arg62His)
|
rs145942328
|
0.00012
|
NM_000302.4(PLOD1):c.193A>T (p.Asn65Tyr)
|
rs143604754
|
0.00012
|
NM_001110556.2(FLNA):c.1933G>A (p.Val645Ile)
|
rs373286506
|
0.00012
|
NM_001999.4(FBN2):c.6334A>G (p.Lys2112Glu)
|
rs141707850
|
0.00012
|
NM_004612.4(TGFBR1):c.*3382T>G
|
rs200080374
|
0.00012
|
NM_006258.4(PRKG1):c.790A>G (p.Ile264Val)
|
rs56082459
|
0.00012
|
NM_030777.4(SLC2A10):c.1571G>A (p.Arg524Lys)
|
rs370141550
|
0.00012
|
NM_053025.4(MYLK):c.2060C>T (p.Pro687Leu)
|
rs144923036
|
0.00012
|
NM_053025.4(MYLK):c.2474C>T (p.Pro825Leu)
|
rs201332554
|
0.00012
|
NM_053025.4(MYLK):c.4336G>A (p.Glu1446Lys)
|
rs146682969
|
0.00012
|
NM_000071.3(CBS):c.221C>T (p.Pro74Leu)
|
rs762862715
|
0.00011
|
NM_000090.4(COL3A1):c.1694C>A (p.Pro565His)
|
rs144260440
|
0.00011
|
NM_000090.4(COL3A1):c.1856C>T (p.Pro619Leu)
|
rs373838193
|
0.00011
|
NM_000090.4(COL3A1):c.226A>G (p.Asn76Asp)
|
rs142045411
|
0.00011
|
NM_000090.4(COL3A1):c.3818A>G (p.Lys1273Arg)
|
rs144614075
|
0.00011
|
NM_000090.4(COL3A1):c.838G>A (p.Ala280Thr)
|
rs142042452
|
0.00011
|
NM_000093.5(COL5A1):c.1345C>T (p.Arg449Trp)
|
rs374020067
|
0.00011
|
NM_000093.5(COL5A1):c.1888C>T (p.Arg630Trp)
|
rs577618553
|
0.00011
|
NM_000093.5(COL5A1):c.4433C>T (p.Pro1478Leu)
|
rs377062537
|
0.00011
|
NM_000093.5(COL5A1):c.4643C>T (p.Ser1548Leu)
|
rs147398633
|
0.00011
|
NM_000138.5(FBN1):c.*2037T>C
|
rs544842106
|
0.00011
|
NM_000138.5(FBN1):c.*2556G>A
|
rs886051221
|
0.00011
|
NM_000138.5(FBN1):c.1821T>C (p.Asp607=)
|
rs149133920
|
0.00011
|
NM_000138.5(FBN1):c.4214T>G (p.Leu1405Arg)
|
rs767606368
|
0.00011
|
NM_000138.5(FBN1):c.7560G>A (p.Thr2520=)
|
rs760425899
|
0.00011
|
NM_000393.5(COL5A2):c.1292A>G (p.Lys431Arg)
|
rs144602736
|
0.00011
|
NM_000393.5(COL5A2):c.2741C>T (p.Ala914Val)
|
rs201486858
|
0.00011
|
NM_001110556.2(FLNA):c.1238C>T (p.Thr413Met)
|
rs782549299
|
0.00011
|
NM_001110556.2(FLNA):c.1771G>A (p.Val591Ile)
|
rs200673062
|
0.00011
|
NM_001999.4(FBN2):c.1651A>G (p.Asn551Asp)
|
rs138389072
|
0.00011
|
NM_001999.4(FBN2):c.2108G>A (p.Arg703His)
|
rs567790419
|
0.00011
|
NM_001999.4(FBN2):c.7180A>G (p.Ile2394Val)
|
rs141854054
|
0.00011
|
NM_002474.3(MYH11):c.3198C>G (p.Asp1066Glu)
|
rs757270167
|
0.00011
|
NM_002474.3(MYH11):c.3209A>G (p.Gln1070Arg)
|
rs147848256
|
0.00011
|
NM_002474.3(MYH11):c.3530C>T (p.Thr1177Met)
|
rs201391947
|
0.00011
|
NM_002474.3(MYH11):c.3562C>T (p.Arg1188Trp)
|
rs146388001
|
0.00011
|
NM_002474.3(MYH11):c.4861A>C (p.Lys1621Gln)
|
rs34321232
|
0.00011
|
NM_003239.5(TGFB3):c.757G>A (p.Val253Met)
|
rs532517095
|
0.00011
|
NM_004612.4(TGFBR1):c.*2410C>T
|
rs200722893
|
0.00011
|
NM_006258.4(PRKG1):c.2043A>T (p.Gly681=)
|
rs146785168
|
0.00011
|
NM_006258.4(PRKG1):c.839C>T (p.Thr280Met)
|
rs376134488
|
0.00011
|
NM_017617.5(NOTCH1):c.2359A>G (p.Asn787Asp)
|
rs199672693
|
0.00011
|
NM_017617.5(NOTCH1):c.2863C>T (p.Arg955Cys)
|
rs370797169
|
0.00011
|
NM_017617.5(NOTCH1):c.4828G>T (p.Ala1610Ser)
|
rs369467132
|
0.00011
|
NM_017617.5(NOTCH1):c.5273G>A (p.Arg1758His)
|
rs373841359
|
0.00011
|
NM_017617.5(NOTCH1):c.6938G>A (p.Arg2313Gln)
|
rs371069660
|
0.00011
|
NM_017617.5(NOTCH1):c.7400C>T (p.Ser2467Leu)
|
rs375025242
|
0.00011
|
NM_017668.3(NDE1):c.*1790T>C
|
rs554671949
|
0.00011
|
NM_030777.4(SLC2A10):c.1204G>A (p.Ala402Thr)
|
rs147710229
|
0.00011
|
NM_053025.4(MYLK):c.4620-4G>A
|
rs371533014
|
0.00011
|
NM_000090.4(COL3A1):c.3775G>A (p.Ala1259Thr)
|
rs776478974
|
0.00010
|
NM_000090.4(COL3A1):c.4301G>A (p.Arg1434His)
|
rs138533702
|
0.00010
|
NM_000093.5(COL5A1):c.1120G>A (p.Ala374Thr)
|
rs370499963
|
0.00010
|
NM_000093.5(COL5A1):c.1754C>T (p.Pro585Leu)
|
rs530442560
|
0.00010
|
NM_000093.5(COL5A1):c.1970C>T (p.Pro657Leu)
|
rs149912828
|
0.00010
|
NM_000093.5(COL5A1):c.2038C>T (p.Pro680Ser)
|
rs376920171
|
0.00010
|
NM_000093.5(COL5A1):c.4067C>T (p.Ala1356Val)
|
rs766796504
|
0.00010
|
NM_000138.5(FBN1):c.2094G>T (p.Pro698=)
|
rs144775475
|
0.00010
|
NM_000302.4(PLOD1):c.1097C>T (p.Ala366Val)
|
rs377080927
|
0.00010
|
NM_000393.5(COL5A2):c.3178C>T (p.Arg1060Trp)
|
rs374549843
|
0.00010
|
NM_000393.5(COL5A2):c.403-3T>C
|
rs369733690
|
0.00010
|
NM_001110556.2(FLNA):c.1376C>T (p.Thr459Met)
|
rs375463904
|
0.00010
|
NM_001999.4(FBN2):c.157G>A (p.Gly53Ser)
|
rs146807421
|
0.00010
|
NM_001999.4(FBN2):c.2717G>A (p.Arg906His)
|
rs370973542
|
0.00010
|
NM_001999.4(FBN2):c.6681A>G (p.Thr2227=)
|
rs145681607
|
0.00010
|
NM_002474.3(MYH11):c.4637C>T (p.Thr1546Met)
|
rs753685135
|
0.00010
|
NM_002474.3(MYH11):c.5269G>A (p.Asp1757Asn)
|
rs752996609
|
0.00010
|
NM_002474.3(MYH11):c.5406C>G (p.His1802Gln)
|
rs746211825
|
0.00010
|
NM_003036.4(SKI):c.2141G>A (p.Arg714His)
|
rs754486257
|
0.00010
|
NM_003242.6(TGFBR2):c.367A>T (p.Met123Leu)
|
rs768385200
|
0.00010
|
NM_005359.6(SMAD4):c.424+5G>A
|
rs200772603
|
0.00010
|
NM_017617.5(NOTCH1):c.1295C>T (p.Thr432Met)
|
rs200562991
|
0.00010
|
NM_017617.5(NOTCH1):c.2636G>A (p.Arg879Gln)
|
rs368011392
|
0.00010
|
NM_017617.5(NOTCH1):c.4096G>A (p.Gly1366Ser)
|
rs778270588
|
0.00010
|
NM_017617.5(NOTCH1):c.4372G>A (p.Ala1458Thr)
|
rs200495793
|
0.00010
|
NM_017617.5(NOTCH1):c.4537G>A (p.Gly1513Ser)
|
rs765844768
|
0.00010
|
NM_017617.5(NOTCH1):c.5414T>C (p.Leu1805Pro)
|
rs201779159
|
0.00010
|
NM_017668.3(NDE1):c.*164A>C
|
rs370252949
|
0.00010
|
NM_030777.4(SLC2A10):c.1208G>A (p.Arg403Gln)
|
rs199912561
|
0.00010
|
NM_030777.4(SLC2A10):c.238G>A (p.Gly80Arg)
|
rs369865870
|
0.00010
|
NM_030777.4(SLC2A10):c.394C>T (p.Arg132Trp)
|
rs121908173
|
0.00010
|
NM_053025.4(MYLK):c.1133G>A (p.Arg378His)
|
rs56378658
|
0.00010
|
NM_053025.4(MYLK):c.1255A>C (p.Lys419Gln)
|
rs773391076
|
0.00010
|
NM_000071.3(CBS):c.404C>T (p.Thr135Met)
|
rs144832032
|
0.00009
|
NM_000090.4(COL3A1):c.2498A>G (p.Lys833Arg)
|
rs371344739
|
0.00009
|
NM_000090.4(COL3A1):c.3694G>A (p.Asp1232Asn)
|
rs147663769
|
0.00009
|
NM_000093.5(COL5A1):c.1303C>G (p.Pro435Ala)
|
rs377488010
|
0.00009
|
NM_000093.5(COL5A1):c.1726C>T (p.Pro576Ser)
|
rs763246328
|
0.00009
|
NM_000093.5(COL5A1):c.191C>T (p.Thr64Met)
|
rs777376620
|
0.00009
|
NM_000093.5(COL5A1):c.3023C>T (p.Thr1008Met)
|
rs199735010
|
0.00009
|
NM_000093.5(COL5A1):c.3491C>T (p.Pro1164Leu)
|
rs368305377
|
0.00009
|
NM_000093.5(COL5A1):c.4607C>T (p.Pro1536Leu)
|
rs761837954
|
0.00009
|
NM_000093.5(COL5A1):c.5097C>G (p.Asn1699Lys)
|
rs138396959
|
0.00009
|
NM_000093.5(COL5A1):c.5389A>C (p.Lys1797Gln)
|
rs560106611
|
0.00009
|
NM_000093.5(COL5A1):c.804C>T (p.Gly268=)
|
rs147729713
|
0.00009
|
NM_000138.5(FBN1):c.*1981C>T
|
rs1054860347
|
0.00009
|
NM_000138.5(FBN1):c.*2044C>T
|
rs561911965
|
0.00009
|
NM_000138.5(FBN1):c.1345G>A (p.Val449Ile)
|
rs139058991
|
0.00009
|
NM_000138.5(FBN1):c.3337+11G>A
|
rs368726848
|
0.00009
|
NM_000138.5(FBN1):c.396T>C (p.Asp132=)
|
rs147481356
|
0.00009
|
NM_000138.5(FBN1):c.4342G>A (p.Asp1448Asn)
|
rs371377334
|
0.00009
|
NM_000138.5(FBN1):c.7660C>T (p.Arg2554Trp)
|
rs369294972
|
0.00009
|
NM_000138.5(FBN1):c.7846A>G (p.Ile2616Val)
|
rs143677764
|
0.00009
|
NM_000138.5(FBN1):c.8141C>T (p.Ala2714Val)
|
rs772795413
|
0.00009
|
NM_000302.4(PLOD1):c.1203-3C>T
|
rs376288573
|
0.00009
|
NM_000302.4(PLOD1):c.124C>T (p.Arg42Cys)
|
rs202003686
|
0.00009
|
NM_000302.4(PLOD1):c.1650G>A (p.Thr550=)
|
rs201999965
|
0.00009
|
NM_000393.5(COL5A2):c.3017T>A (p.Met1006Lys)
|
rs930378570
|
0.00009
|
NM_001110556.2(FLNA):c.2123G>A (p.Arg708Gln)
|
rs371707134
|
0.00009
|
NM_001110556.2(FLNA):c.4075C>T (p.Arg1359Cys)
|
rs369768801
|
0.00009
|
NM_001999.4(FBN2):c.4763A>T (p.Asp1588Val)
|
rs202218356
|
0.00009
|
NM_001999.4(FBN2):c.5275A>C (p.Lys1759Gln)
|
rs201113098
|
0.00009
|
NM_001999.4(FBN2):c.8239C>G (p.Leu2747Val)
|
rs145353444
|
0.00009
|
NM_001999.4(FBN2):c.8376C>G (p.Ile2792Met)
|
rs142747169
|
0.00009
|
NM_002474.3(MYH11):c.5226G>C (p.Glu1742Asp)
|
rs144421849
|
0.00009
|
NM_002474.3(MYH11):c.5277C>T (p.Val1759=)
|
rs112564682
|
0.00009
|
NM_002474.3(MYH11):c.5353A>T (p.Ser1785Cys)
|
rs772663756
|
0.00009
|
NM_003239.5(TGFB3):c.813G>C (p.Lys271Asn)
|
rs147601018
|
0.00009
|
NM_003242.6(TGFBR2):c.1616G>T (p.Ser539Ile)
|
rs1035228561
|
0.00009
|
NM_005120.3(MED12):c.1849A>G (p.Thr617Ala)
|
rs765417606
|
0.00009
|
NM_005902.4(SMAD3):c.885G>A (p.Arg295=)
|
rs139616052
|
0.00009
|
NM_017617.5(NOTCH1):c.4157C>T (p.Pro1386Leu)
|
rs367710569
|
0.00009
|
NM_017617.5(NOTCH1):c.4652G>T (p.Ser1551Ile)
|
rs774068657
|
0.00009
|
NM_017617.5(NOTCH1):c.527G>A (p.Arg176Gln)
|
rs375065108
|
0.00009
|
NM_017617.5(NOTCH1):c.7645C>T (p.Arg2549Cys)
|
rs200893930
|
0.00009
|
NM_017668.3(NDE1):c.*914A>G
|
rs886051751
|
0.00009
|
NM_030777.4(SLC2A10):c.1225C>T (p.Arg409Cys)
|
rs562212724
|
0.00009
|
NM_030777.4(SLC2A10):c.1412-3C>T
|
rs374857656
|
0.00009
|
NM_053025.4(MYLK):c.2589G>A (p.Glu863=)
|
rs536506601
|
0.00009
|
NM_053025.4(MYLK):c.3749G>A (p.Arg1250His)
|
rs139817477
|
0.00009
|
NM_053025.4(MYLK):c.3901C>T (p.Arg1301Cys)
|
rs368321325
|
0.00009
|
NM_053025.4(MYLK):c.4289-13del
|
rs779252356
|
0.00009
|
NM_053025.4(MYLK):c.5015A>G (p.Asn1672Ser)
|
rs577501563
|
0.00009
|
NM_000071.3(CBS):c.134G>A (p.Arg45Gln)
|
rs759502207
|
0.00008
|
NM_000093.5(COL5A1):c.1507C>T (p.Arg503Cys)
|
rs781485753
|
0.00008
|
NM_000093.5(COL5A1):c.3014C>T (p.Thr1005Met)
|
rs201220311
|
0.00008
|
NM_000093.5(COL5A1):c.3110C>T (p.Thr1037Met)
|
rs150487609
|
0.00008
|
NM_000093.5(COL5A1):c.3203T>G (p.Val1068Gly)
|
rs372109796
|
0.00008
|
NM_000093.5(COL5A1):c.4307C>T (p.Pro1436Leu)
|
rs752334702
|
0.00008
|
NM_000138.5(FBN1):c.2294-14C>G
|
rs201446948
|
0.00008
|
NM_000138.5(FBN1):c.3226A>C (p.Ile1076Leu)
|
rs201156527
|
0.00008
|
NM_000138.5(FBN1):c.7379A>G (p.Lys2460Arg)
|
rs144189837
|
0.00008
|
NM_001110556.2(FLNA):c.2183A>G (p.Asn728Ser)
|
rs375038091
|
0.00008
|
NM_001110556.2(FLNA):c.2323T>C (p.Tyr775His)
|
rs371839875
|
0.00008
|
NM_001110556.2(FLNA):c.2614G>A (p.Ala872Thr)
|
rs185503240
|
0.00008
|
NM_001110556.2(FLNA):c.5911A>T (p.Ile1971Phe)
|
rs190712778
|
0.00008
|
NM_002474.3(MYH11):c.3293+5C>T
|
rs766421052
|
0.00008
|
NM_002474.3(MYH11):c.3827C>T (p.Ala1276Val)
|
rs547038802
|
0.00008
|
NM_002474.3(MYH11):c.4127C>T (p.Ser1376Leu)
|
rs553877450
|
0.00008
|
NM_002474.3(MYH11):c.4706T>C (p.Met1569Thr)
|
rs145074004
|
0.00008
|
NM_003036.4(SKI):c.170C>T (p.Ala57Val)
|
rs1389185868
|
0.00008
|
NM_003036.4(SKI):c.242C>A (p.Pro81Gln)
|
rs542659326
|
0.00008
|
NM_003238.6(TGFB2):c.556G>A (p.Asp186Asn)
|
rs766536496
|
0.00008
|
NM_003239.5(TGFB3):c.97G>A (p.Gly33Ser)
|
rs781353815
|
0.00008
|
NM_003242.6(TGFBR2):c.125A>G (p.Asn42Ser)
|
rs1305653433
|
0.00008
|
NM_004612.4(TGFBR1):c.1210A>G (p.Met404Val)
|
rs143435050
|
0.00008
|
NM_005911.6(MAT2A):c.721A>G (p.Ile241Val)
|
rs578215416
|
0.00008
|
NM_006258.4(PRKG1):c.1710-4G>A
|
rs374445349
|
0.00008
|
NM_017617.5(NOTCH1):c.1870G>A (p.Ala624Thr)
|
rs372771179
|
0.00008
|
NM_017617.5(NOTCH1):c.4313G>A (p.Arg1438His)
|
rs61751541
|
0.00008
|
NM_017617.5(NOTCH1):c.4373C>T (p.Ala1458Val)
|
rs374352922
|
0.00008
|
NM_017617.5(NOTCH1):c.5224G>T (p.Ala1742Ser)
|
rs760669267
|
0.00008
|
NM_017617.5(NOTCH1):c.7313C>T (p.Pro2438Leu)
|
rs199777870
|
0.00008
|
NM_053025.4(MYLK):c.2462+5G>A
|
rs374003770
|
0.00008
|
NM_000090.4(COL3A1):c.347T>G (p.Ile116Ser)
|
rs769622439
|
0.00007
|
NM_000090.4(COL3A1):c.472T>A (p.Tyr158Asn)
|
rs756125442
|
0.00007
|
NM_000093.5(COL5A1):c.4157C>T (p.Ser1386Leu)
|
rs141605663
|
0.00007
|
NM_000093.5(COL5A1):c.4658C>T (p.Pro1553Leu)
|
rs530570306
|
0.00007
|
NM_000093.5(COL5A1):c.4717A>G (p.Ile1573Val)
|
rs373448943
|
0.00007
|
NM_000093.5(COL5A1):c.754C>T (p.Pro252Ser)
|
rs369781295
|
0.00007
|
NM_000093.5(COL5A1):c.934C>G (p.Pro312Ala)
|
rs140105243
|
0.00007
|
NM_000138.5(FBN1):c.*254C>T
|
rs886051243
|
0.00007
|
NM_000138.5(FBN1):c.2746G>A (p.Val916Met)
|
rs373644734
|
0.00007
|
NM_000138.5(FBN1):c.4582+3A>G
|
rs777845323
|
0.00007
|
NM_000138.5(FBN1):c.5963C>T (p.Thr1988Ile)
|
rs142912485
|
0.00007
|
NM_000302.4(PLOD1):c.1115A>G (p.Asp372Gly)
|
rs377497101
|
0.00007
|
NM_000302.4(PLOD1):c.1903-5T>A
|
rs776128914
|
0.00007
|
NM_000302.4(PLOD1):c.2162C>T (p.Ala721Val)
|
rs149161535
|
0.00007
|
NM_000393.5(COL5A2):c.1793G>A (p.Arg598His)
|
rs529317104
|
0.00007
|
NM_000393.5(COL5A2):c.3385G>A (p.Asp1129Asn)
|
rs199802059
|
0.00007
|
NM_000393.5(COL5A2):c.3488A>G (p.Gln1163Arg)
|
rs758412337
|
0.00007
|
NM_000393.5(COL5A2):c.4495G>T (p.Val1499Leu)
|
rs527433112
|
0.00007
|
NM_001110556.2(FLNA):c.7172G>A (p.Arg2391His)
|
rs727503930
|
0.00007
|
NM_001110556.2(FLNA):c.7205T>C (p.Ile2402Thr)
|
rs202152952
|
0.00007
|
NM_001999.4(FBN2):c.2198C>G (p.Pro733Arg)
|
rs745528502
|
0.00007
|
NM_001999.4(FBN2):c.2480G>A (p.Arg827Gln)
|
rs150735582
|
0.00007
|
NM_001999.4(FBN2):c.3839C>T (p.Ser1280Leu)
|
rs200481467
|
0.00007
|
NM_001999.4(FBN2):c.5495G>A (p.Arg1832His)
|
rs140276399
|
0.00007
|
NM_002474.3(MYH11):c.1839G>C (p.Lys613Asn)
|
rs754374723
|
0.00007
|
NM_002474.3(MYH11):c.4681G>A (p.Ala1561Thr)
|
rs138863103
|
0.00007
|
NM_003242.6(TGFBR2):c.1013C>T (p.Thr338Met)
|
rs752866783
|
0.00007
|
NM_004612.4(TGFBR1):c.1285T>C (p.Tyr429His)
|
rs201745016
|
0.00007
|
NM_006258.4(PRKG1):c.980C>A (p.Thr327Asn)
|
rs138485549
|
0.00007
|
NM_017617.5(NOTCH1):c.3853G>A (p.Val1285Met)
|
rs756972680
|
0.00007
|
NM_017617.5(NOTCH1):c.4307C>T (p.Ala1436Val)
|
rs371303106
|
0.00007
|
NM_017617.5(NOTCH1):c.4927G>A (p.Ala1643Thr)
|
rs566680728
|
0.00007
|
NM_017617.5(NOTCH1):c.6283C>T (p.Arg2095Cys)
|
rs780873661
|
0.00007
|
NM_017617.5(NOTCH1):c.6583G>A (p.Gly2195Ser)
|
rs376422513
|
0.00007
|
NM_017617.5(NOTCH1):c.7397C>T (p.Thr2466Met)
|
rs369167555
|
0.00007
|
NM_030777.4(SLC2A10):c.581C>T (p.Thr194Ile)
|
rs763889166
|
0.00007
|
NM_053025.4(MYLK):c.1786G>A (p.Ala596Thr)
|
rs758715543
|
0.00007
|
NM_053025.4(MYLK):c.2120A>G (p.Gln707Arg)
|
rs201615936
|
0.00007
|
NM_000071.3(CBS):c.1039+3G>A
|
rs747384273
|
0.00006
|
NM_000071.3(CBS):c.1067T>C (p.Val356Ala)
|
rs370163789
|
0.00006
|
NM_000071.3(CBS):c.610G>A (p.Val204Met)
|
rs372679328
|
0.00006
|
NM_000090.4(COL3A1):c.1156C>T (p.Pro386Ser)
|
rs757192342
|
0.00006
|
NM_000090.4(COL3A1):c.1165A>T (p.Asn389Tyr)
|
rs200394946
|
0.00006
|
NM_000090.4(COL3A1):c.1526G>A (p.Arg509His)
|
rs568986390
|
0.00006
|
NM_000090.4(COL3A1):c.1585G>A (p.Val529Ile)
|
rs140257722
|
0.00006
|
NM_000090.4(COL3A1):c.217G>C (p.Asp73His)
|
rs200246388
|
0.00006
|
NM_000090.4(COL3A1):c.266C>T (p.Pro89Leu)
|
rs139610730
|
0.00006
|
NM_000090.4(COL3A1):c.3035G>A (p.Arg1012Lys)
|
rs865829661
|
0.00006
|
NM_000090.4(COL3A1):c.3390C>T (p.Ile1130=)
|
rs148918486
|
0.00006
|
NM_000090.4(COL3A1):c.3937A>C (p.Lys1313Gln)
|
rs886038983
|
0.00006
|
NM_000090.4(COL3A1):c.91G>C (p.Gly31Arg)
|
rs374537884
|
0.00006
|
NM_000093.5(COL5A1):c.2114C>T (p.Pro705Leu)
|
rs375456811
|
0.00006
|
NM_000093.5(COL5A1):c.2281C>T (p.Pro761Ser)
|
rs140486644
|
0.00006
|
NM_000093.5(COL5A1):c.2983C>A (p.Pro995Thr)
|
rs187022757
|
0.00006
|
NM_000093.5(COL5A1):c.3258G>A (p.Ala1086=)
|
rs372844807
|
0.00006
|
NM_000093.5(COL5A1):c.3939G>T (p.Glu1313Asp)
|
rs886063676
|
0.00006
|
NM_000093.5(COL5A1):c.791C>T (p.Thr264Met)
|
rs148548209
|
0.00006
|
NM_000138.5(FBN1):c.*2592T>C
|
rs752936528
|
0.00006
|
NM_000138.5(FBN1):c.124G>C (p.Ala42Pro)
|
rs377722423
|
0.00006
|
NM_000138.5(FBN1):c.1316G>A (p.Arg439Gln)
|
rs568810058
|
0.00006
|
NM_000138.5(FBN1):c.2434G>A (p.Glu812Lys)
|
rs201778577
|
0.00006
|
NM_000138.5(FBN1):c.3013G>A (p.Glu1005Lys)
|
rs564713154
|
0.00006
|
NM_000138.5(FBN1):c.3197G>C (p.Arg1066Thr)
|
rs376659156
|
0.00006
|
NM_000138.5(FBN1):c.4150A>G (p.Met1384Val)
|
rs775543440
|
0.00006
|
NM_000138.5(FBN1):c.4211-10C>T
|
rs28730793
|
0.00006
|
NM_000138.5(FBN1):c.5573A>G (p.Asn1858Ser)
|
rs751472490
|
0.00006
|
NM_000138.5(FBN1):c.5672-15C>G
|
rs776163620
|
0.00006
|
NM_000138.5(FBN1):c.6164-3C>T
|
rs571365493
|
0.00006
|
NM_000138.5(FBN1):c.6577G>A (p.Glu2193Lys)
|
rs201361628
|
0.00006
|
NM_000138.5(FBN1):c.7099G>A (p.Gly2367Arg)
|
rs368978109
|
0.00006
|
NM_000138.5(FBN1):c.7516G>A (p.Gly2506Ser)
|
rs756295016
|
0.00006
|
NM_000138.5(FBN1):c.7999G>A (p.Glu2667Lys)
|
rs149062442
|
0.00006
|
NM_000138.5(FBN1):c.8071G>A (p.Gly2691Ser)
|
rs145105768
|
0.00006
|
NM_000138.5(FBN1):c.8300A>G (p.Asn2767Ser)
|
rs536503540
|
0.00006
|
NM_000138.5(FBN1):c.8310C>T (p.His2770=)
|
rs112189340
|
0.00006
|
NM_000302.4(PLOD1):c.2095A>G (p.Met699Val)
|
rs142916043
|
0.00006
|
NM_000302.4(PLOD1):c.569C>T (p.Pro190Leu)
|
rs375416784
|
0.00006
|
NM_000302.4(PLOD1):c.764A>G (p.Asn255Ser)
|
rs538763801
|
0.00006
|
NM_000302.4(PLOD1):c.928C>T (p.Arg310Trp)
|
rs11553674
|
0.00006
|
NM_000393.5(COL5A2):c.3658C>T (p.Pro1220Ser)
|
rs770554435
|
0.00006
|
NM_000393.5(COL5A2):c.376G>A (p.Gly126Ser)
|
rs779153546
|
0.00006
|
NM_000393.5(COL5A2):c.3794A>G (p.Asp1265Gly)
|
rs200325397
|
0.00006
|
NM_000393.5(COL5A2):c.389G>A (p.Arg130His)
|
rs377331666
|
0.00006
|
NM_000393.5(COL5A2):c.437G>A (p.Arg146Gln)
|
rs144430633
|
0.00006
|
NM_001040113.2(MYH11):c.5813C>A (p.Pro1938His)
|
rs765030635
|
0.00006
|
NM_001110556.2(FLNA):c.2843A>G (p.Asn948Ser)
|
rs372718245
|
0.00006
|
NM_001110556.2(FLNA):c.4060G>A (p.Asp1354Asn)
|
rs377390031
|
0.00006
|
NM_001110556.2(FLNA):c.5492G>A (p.Arg1831Gln)
|
rs781882457
|
0.00006
|
NM_001999.4(FBN2):c.1411G>A (p.Val471Ile)
|
rs138046782
|
0.00006
|
NM_001999.4(FBN2):c.2978G>A (p.Arg993His)
|
rs774483323
|
0.00006
|
NM_001999.4(FBN2):c.4757G>C (p.Arg1586Pro)
|
rs143195229
|
0.00006
|
NM_001999.4(FBN2):c.5800+5G>A
|
rs375487064
|
0.00006
|
NM_001999.4(FBN2):c.6833C>A (p.Thr2278Lys)
|
rs2307109
|
0.00006
|
NM_001999.4(FBN2):c.6982G>T (p.Ala2328Ser)
|
rs199910288
|
0.00006
|
NM_001999.4(FBN2):c.7690C>G (p.Gln2564Glu)
|
rs373970388
|
0.00006
|
NM_001999.4(FBN2):c.7808T>C (p.Phe2603Ser)
|
rs374507398
|
0.00006
|
NM_001999.4(FBN2):c.803A>G (p.Asn268Ser)
|
rs760817242
|
0.00006
|
NM_001999.4(FBN2):c.8058C>A (p.Phe2686Leu)
|
rs150734807
|
0.00006
|
NM_001999.4(FBN2):c.8086G>A (p.Val2696Met)
|
rs373994051
|
0.00006
|
NM_002474.3(MYH11):c.1301G>A (p.Arg434His)
|
rs754636432
|
0.00006
|
NM_002474.3(MYH11):c.1913C>T (p.Ser638Leu)
|
rs771128441
|
0.00006
|
NM_002474.3(MYH11):c.3010C>G (p.Leu1004Val)
|
rs373358736
|
0.00006
|
NM_002474.3(MYH11):c.3235G>A (p.Ala1079Thr)
|
rs140479999
|
0.00006
|
NM_002474.3(MYH11):c.3603C>G (p.His1201Gln)
|
rs199800922
|
0.00006
|
NM_002474.3(MYH11):c.4096A>G (p.Ile1366Val)
|
rs147127121
|
0.00006
|
NM_002474.3(MYH11):c.4235C>T (p.Ala1412Val)
|
rs200391659
|
0.00006
|
NM_002474.3(MYH11):c.5581G>A (p.Glu1861Lys)
|
rs139418145
|
0.00006
|
NM_002474.3(MYH11):c.5666C>T (p.Ala1889Val)
|
rs369950711
|
0.00006
|
NM_003036.4(SKI):c.2056G>A (p.Ala686Thr)
|
rs756553942
|
0.00006
|
NM_003036.4(SKI):c.247C>T (p.Pro83Ser)
|
rs201590284
|
0.00006
|
NM_003238.6(TGFB2):c.1140C>T (p.Cys380=)
|
rs201129153
|
0.00006
|
NM_003238.6(TGFB2):c.194C>T (p.Pro65Leu)
|
rs750324465
|
0.00006
|
NM_003239.5(TGFB3):c.235C>G (p.Leu79Val)
|
rs371230847
|
0.00006
|
NM_003242.5(TGFBR2):c.-307C>T
|
rs749340193
|
0.00006
|
NM_003242.6(TGFBR2):c.-337T>A
|
rs1038796042
|
0.00006
|
NM_003242.6(TGFBR2):c.1066C>G (p.Arg356Gly)
|
rs199660234
|
0.00006
|
NM_003242.6(TGFBR2):c.937C>T (p.Arg313Trp)
|
rs55751315
|
0.00006
|
NM_003243.5(TGFBR3):c.765T>A (p.Asp255Glu)
|
rs369086061
|
0.00006
|
NM_004612.4(TGFBR1):c.1141C>T (p.Pro381Ser)
|
rs760555508
|
0.00006
|
NM_004612.4(TGFBR1):c.1301C>G (p.Ser434Cys)
|
rs886039078
|
0.00006
|
NM_004612.4(TGFBR1):c.94A>G (p.Thr32Ala)
|
rs1319771049
|
0.00006
|
NM_005120.3(MED12):c.568A>G (p.Ile190Val)
|
rs374780236
|
0.00006
|
NM_005902.4(SMAD3):c.*250C>A
|
rs754034578
|
0.00006
|
NM_006258.4(PRKG1):c.1928G>A (p.Arg643Lys)
|
rs770812712
|
0.00006
|
NM_016938.5(EFEMP2):c.628G>A (p.Gly210Arg)
|
rs546162289
|
0.00006
|
NM_017617.5(NOTCH1):c.1510C>T (p.Arg504Cys)
|
rs752071569
|
0.00006
|
NM_017617.5(NOTCH1):c.1945C>A (p.Pro649Thr)
|
rs780710009
|
0.00006
|
NM_017617.5(NOTCH1):c.2620G>A (p.Val874Ile)
|
rs776698364
|
0.00006
|
NM_017617.5(NOTCH1):c.3001G>A (p.Gly1001Ser)
|
rs763621169
|
0.00006
|
NM_017617.5(NOTCH1):c.3271G>A (p.Gly1091Ser)
|
rs768095251
|
0.00006
|
NM_017617.5(NOTCH1):c.3338C>T (p.Ala1113Val)
|
rs377351349
|
0.00006
|
NM_017617.5(NOTCH1):c.339C>T (p.Asn113=)
|
rs369947231
|
0.00006
|
NM_017617.5(NOTCH1):c.3788G>A (p.Arg1263His)
|
rs377594681
|
0.00006
|
NM_017617.5(NOTCH1):c.4328C>T (p.Pro1443Leu)
|
rs750010764
|
0.00006
|
NM_017617.5(NOTCH1):c.5776C>T (p.Arg1926Cys)
|
rs199652954
|
0.00006
|
NM_017617.5(NOTCH1):c.7130C>T (p.Pro2377Leu)
|
rs761839390
|
0.00006
|
NM_017617.5(NOTCH1):c.7292G>A (p.Arg2431Gln)
|
rs753752321
|
0.00006
|
NM_017617.5(NOTCH1):c.7363A>G (p.Thr2455Ala)
|
rs536167222
|
0.00006
|
NM_030777.4(SLC2A10):c.484T>C (p.Trp162Arg)
|
rs755925085
|
0.00006
|
NM_030777.4(SLC2A10):c.644G>A (p.Arg215Gln)
|
rs774497964
|
0.00006
|
NM_030777.4(SLC2A10):c.797G>T (p.Gly266Val)
|
rs369484751
|
0.00006
|
NM_053025.4(MYLK):c.149C>T (p.Ala50Val)
|
rs369576521
|
0.00006
|
NM_053025.4(MYLK):c.1775T>C (p.Val592Ala)
|
rs374420141
|
0.00006
|
NM_053025.4(MYLK):c.229G>A (p.Gly77Ser)
|
rs139000120
|
0.00006
|
NM_053025.4(MYLK):c.2326G>A (p.Val776Met)
|
rs372707781
|
0.00006
|
NM_053025.4(MYLK):c.2761G>A (p.Glu921Lys)
|
rs202223681
|
0.00006
|
NM_053025.4(MYLK):c.3032C>T (p.Ser1011Phe)
|
rs200423083
|
0.00006
|
NM_053025.4(MYLK):c.3184G>A (p.Ala1062Thr)
|
rs11558550
|
0.00006
|
NM_053025.4(MYLK):c.454C>T (p.Arg152Cys)
|
rs559933360
|
0.00006
|
NM_053025.4(MYLK):c.4565T>C (p.Val1522Ala)
|
rs763880352
|
0.00006
|
NM_053025.4(MYLK):c.474G>T (p.Glu158Asp)
|
rs370158852
|
0.00006
|
NM_000071.3(CBS):c.1564G>A (p.Gly522Arg)
|
rs201916339
|
0.00005
|
NM_000093.5(COL5A1):c.2722C>T (p.Pro908Ser)
|
rs144985214
|
0.00005
|
NM_000093.5(COL5A1):c.5293C>T (p.Arg1765Cys)
|
rs199703883
|
0.00005
|
NM_000138.5(FBN1):c.-123C>A
|
rs1004900313
|
0.00005
|
NM_000138.5(FBN1):c.155C>T (p.Ala52Val)
|
rs1258637670
|
0.00005
|
NM_000138.5(FBN1):c.247+10T>C
|
rs367618012
|
0.00005
|
NM_000138.5(FBN1):c.2927G>A (p.Arg976His)
|
rs140954477
|
0.00005
|
NM_000138.5(FBN1):c.4162C>T (p.Arg1388Cys)
|
rs770860280
|
0.00005
|
NM_000138.5(FBN1):c.4316C>G (p.Ala1439Gly)
|
rs755085498
|
0.00005
|
NM_000138.5(FBN1):c.4321G>A (p.Gly1441Arg)
|
rs372118067
|
0.00005
|
NM_000138.5(FBN1):c.466A>C (p.Asn156His)
|
rs746352371
|
0.00005
|
NM_000138.5(FBN1):c.7051G>A (p.Gly2351Ser)
|
rs746127796
|
0.00005
|
NM_000138.5(FBN1):c.7820-4G>A
|
rs750036723
|
0.00005
|
NM_000138.5(FBN1):c.8149G>A (p.Glu2717Lys)
|
rs187553035
|
0.00005
|
NM_000138.5(FBN1):c.83A>G (p.Asn28Ser)
|
rs193922245
|
0.00005
|
NM_000302.4(PLOD1):c.1064G>A (p.Arg355Gln)
|
rs370305686
|
0.00005
|
NM_000302.4(PLOD1):c.1202+3G>A
|
rs370358836
|
0.00005
|
NM_000302.4(PLOD1):c.1324C>T (p.Arg442Cys)
|
rs763672034
|
0.00005
|
NM_000302.4(PLOD1):c.773C>T (p.Pro258Leu)
|
rs766692124
|
0.00005
|
NM_000302.4(PLOD1):c.970A>G (p.Asn324Asp)
|
rs959635301
|
0.00005
|
NM_000393.5(COL5A2):c.3038C>T (p.Ala1013Val)
|
rs372220538
|
0.00005
|
NM_000393.5(COL5A2):c.4325G>A (p.Arg1442Gln)
|
rs761126767
|
0.00005
|
NM_001110556.2(FLNA):c.1042C>G (p.Pro348Ala)
|
rs782643025
|
0.00005
|
NM_001110556.2(FLNA):c.4475-4C>T
|
rs199652065
|
0.00005
|
NM_001110556.2(FLNA):c.4945+3G>A
|
rs372673802
|
0.00005
|
NM_001110556.2(FLNA):c.5342A>G (p.Asn1781Ser)
|
rs373089783
|
0.00005
|
NM_001110556.2(FLNA):c.968C>T (p.Pro323Leu)
|
rs371830740
|
0.00005
|
NM_001999.4(FBN2):c.1720A>G (p.Ile574Val)
|
rs768073096
|
0.00005
|
NM_001999.4(FBN2):c.1885A>G (p.Asn629Asp)
|
rs863223554
|
0.00005
|
NM_001999.4(FBN2):c.4102G>A (p.Val1368Met)
|
rs762139261
|
0.00005
|
NM_001999.4(FBN2):c.4328A>T (p.Asp1443Val)
|
rs751400994
|
0.00005
|
NM_002474.3(MYH11):c.2496G>C (p.Trp832Cys)
|
rs369196744
|
0.00005
|
NM_002474.3(MYH11):c.3722G>A (p.Arg1241Gln)
|
rs749705160
|
0.00005
|
NM_002474.3(MYH11):c.4345A>C (p.Lys1449Gln)
|
rs775809843
|
0.00005
|
NM_002474.3(MYH11):c.4606G>A (p.Ala1536Thr)
|
rs373815046
|
0.00005
|
NM_002474.3(MYH11):c.5869G>C (p.Glu1957Gln)
|
rs768140376
|
0.00005
|
NM_003239.5(TGFB3):c.559G>A (p.Gly187Ser)
|
rs201063101
|
0.00005
|
NM_003242.6(TGFBR2):c.340G>C (p.Glu114Gln)
|
rs771551560
|
0.00005
|
NM_003242.6(TGFBR2):c.689C>T (p.Thr230Met)
|
rs150116445
|
0.00005
|
NM_003242.6(TGFBR2):c.91T>G (p.Ser31Ala)
|
rs761400349
|
0.00005
|
NM_004612.4(TGFBR1):c.1040G>C (p.Cys347Ser)
|
rs113786548
|
0.00005
|
NM_004612.4(TGFBR1):c.929C>T (p.Ala310Val)
|
rs202010361
|
0.00005
|
NM_005120.3(MED12):c.4253+4G>A
|
rs750162341
|
0.00005
|
NM_005359.6(SMAD4):c.947A>G (p.Asn316Ser)
|
rs377119288
|
0.00005
|
NM_005902.4(SMAD3):c.401-7C>T
|
rs774268232
|
0.00005
|
NM_005902.4(SMAD3):c.440C>T (p.Pro147Leu)
|
rs377026877
|
0.00005
|
NM_005902.4(SMAD3):c.607+9T>A
|
rs886051380
|
0.00005
|
NM_006258.4(PRKG1):c.1867A>T (p.Asn623Tyr)
|
rs201720423
|
0.00005
|
NM_017617.5(NOTCH1):c.2521G>A (p.Gly841Ser)
|
rs369259434
|
0.00005
|
NM_017617.5(NOTCH1):c.2744C>T (p.Pro915Leu)
|
rs755058802
|
0.00005
|
NM_017617.5(NOTCH1):c.2783C>T (p.Thr928Met)
|
rs764921648
|
0.00005
|
NM_017617.5(NOTCH1):c.2908A>G (p.Thr970Ala)
|
rs201053795
|
0.00005
|
NM_017617.5(NOTCH1):c.3553G>A (p.Asp1185Asn)
|
rs548083258
|
0.00005
|
NM_017617.5(NOTCH1):c.4027G>A (p.Ala1343Thr)
|
rs369654090
|
0.00005
|
NM_017617.5(NOTCH1):c.4238G>A (p.Arg1413His)
|
rs371068504
|
0.00005
|
NM_017617.5(NOTCH1):c.4492A>G (p.Lys1498Glu)
|
rs745681787
|
0.00005
|
NM_017617.5(NOTCH1):c.4793G>A (p.Arg1598His)
|
rs755124691
|
0.00005
|
NM_017617.5(NOTCH1):c.5183C>T (p.Pro1728Leu)
|
rs766358616
|
0.00005
|
NM_017617.5(NOTCH1):c.5765A>G (p.Asn1922Ser)
|
rs765708087
|
0.00005
|
NM_017617.5(NOTCH1):c.6205G>A (p.Ala2069Thr)
|
rs567909904
|
0.00005
|
NM_017617.5(NOTCH1):c.7016C>A (p.Ala2339Asp)
|
rs773134608
|
0.00005
|
NM_017617.5(NOTCH1):c.7229C>T (p.Pro2410Leu)
|
rs560981171
|
0.00005
|
NM_030777.4(SLC2A10):c.878G>A (p.Arg293His)
|
rs770882223
|
0.00005
|
NM_053025.4(MYLK):c.2114G>A (p.Arg705His)
|
rs189505310
|
0.00005
|
NM_053025.4(MYLK):c.569C>T (p.Pro190Leu)
|
rs199736263
|
0.00005
|
NM_053025.4(MYLK):c.983C>T (p.Ser328Leu)
|
rs200143447
|
0.00005
|
NM_000071.3(CBS):c.175C>T (p.Pro59Ser)
|
rs376496085
|
0.00004
|
NM_000071.3(CBS):c.71C>T (p.Ala24Val)
|
rs759682004
|
0.00004
|
NM_000090.4(COL3A1):c.1424C>T (p.Ala475Val)
|
rs770168441
|
0.00004
|
NM_000090.4(COL3A1):c.2489C>T (p.Pro830Leu)
|
rs886038849
|
0.00004
|
NM_000090.4(COL3A1):c.272C>T (p.Pro91Leu)
|
rs534898281
|
0.00004
|
NM_000090.4(COL3A1):c.3245G>A (p.Arg1082Gln)
|
rs367754862
|
0.00004
|
NM_000090.4(COL3A1):c.3326G>A (p.Arg1109Gln)
|
rs730880062
|
0.00004
|
NM_000090.4(COL3A1):c.3462T>G (p.Ser1154Arg)
|
rs769100283
|
0.00004
|
NM_000090.4(COL3A1):c.3607G>A (p.Ala1203Thr)
|
rs550665335
|
0.00004
|
NM_000090.4(COL3A1):c.4075C>A (p.Leu1359Ile)
|
rs1400489265
|
0.00004
|
NM_000090.4(COL3A1):c.929G>A (p.Arg310Gln)
|
rs778497667
|
0.00004
|
NM_000093.5(COL5A1):c.1163A>G (p.Asn388Ser)
|
rs150837465
|
0.00004
|
NM_000093.5(COL5A1):c.1307C>T (p.Ala436Val)
|
rs144269434
|
0.00004
|
NM_000093.5(COL5A1):c.1528G>A (p.Asp510Asn)
|
rs374204025
|
0.00004
|
NM_000093.5(COL5A1):c.1595C>T (p.Ala532Val)
|
rs369000939
|
0.00004
|
NM_000093.5(COL5A1):c.2398A>G (p.Ile800Val)
|
rs146870918
|
0.00004
|
NM_000093.5(COL5A1):c.3247C>T (p.Pro1083Ser)
|
rs370321707
|
0.00004
|
NM_000093.5(COL5A1):c.446C>T (p.Pro149Leu)
|
rs369971694
|
0.00004
|
NM_000093.5(COL5A1):c.476A>G (p.Asn159Ser)
|
rs551016059
|
0.00004
|
NM_000138.5(FBN1):c.*1325T>C
|
rs569152308
|
0.00004
|
NM_000138.5(FBN1):c.*2221A>G
|
rs886051226
|
0.00004
|
NM_000138.5(FBN1):c.*300T>C
|
rs1011876253
|
0.00004
|
NM_000138.5(FBN1):c.1087G>A (p.Gly363Ser)
|
rs363855
|
0.00004
|
NM_000138.5(FBN1):c.1602T>C (p.Cys534=)
|
rs377386372
|
0.00004
|
NM_000138.5(FBN1):c.1837+4C>T
|
rs199950267
|
0.00004
|
NM_000138.5(FBN1):c.1880G>A (p.Arg627His)
|
rs746073643
|
0.00004
|
NM_000138.5(FBN1):c.1884C>T (p.Cys628=)
|
rs150421653
|
0.00004
|
NM_000138.5(FBN1):c.2075T>A (p.Phe692Tyr)
|
rs955639059
|
0.00004
|
NM_000138.5(FBN1):c.2600A>G (p.Asn867Ser)
|
rs145464311
|
0.00004
|
NM_000138.5(FBN1):c.3145G>A (p.Gly1049Ser)
|
rs778181932
|
0.00004
|
NM_000138.5(FBN1):c.3295G>A (p.Glu1099Lys)
|
rs763485521
|
0.00004
|
NM_000138.5(FBN1):c.3503A>G (p.Asn1168Ser)
|
rs776667707
|
0.00004
|
NM_000138.5(FBN1):c.350A>G (p.Gln117Arg)
|
rs777826174
|
0.00004
|
NM_000138.5(FBN1):c.4163G>A (p.Arg1388His)
|
rs749196340
|
0.00004
|
NM_000138.5(FBN1):c.4804G>A (p.Val1602Ile)
|
rs780957696
|
0.00004
|
NM_000138.5(FBN1):c.538+4A>G
|
rs375721252
|
0.00004
|
NM_000138.5(FBN1):c.5656C>G (p.Gln1886Glu)
|
rs1038114901
|
0.00004
|
NM_000138.5(FBN1):c.5717G>A (p.Arg1906Gln)
|
rs774798866
|
0.00004
|
NM_000138.5(FBN1):c.5724A>G (p.Thr1908=)
|
rs141219664
|
0.00004
|
NM_000138.5(FBN1):c.5842A>G (p.Ile1948Val)
|
rs766850261
|
0.00004
|
NM_000138.5(FBN1):c.5921T>C (p.Ile1974Thr)
|
rs765878996
|
0.00004
|
NM_000138.5(FBN1):c.6055G>A (p.Glu2019Lys)
|
rs377149130
|
0.00004
|
NM_000138.5(FBN1):c.6911A>G (p.Asn2304Ser)
|
rs375939213
|
0.00004
|
NM_000138.5(FBN1):c.7210G>A (p.Asp2404Asn)
|
rs530059069
|
0.00004
|
NM_000138.5(FBN1):c.8179G>A (p.Gly2727Ser)
|
rs758748297
|
0.00004
|
NM_000138.5(FBN1):c.8299A>G (p.Asn2767Asp)
|
rs771437236
|
0.00004
|
NM_000302.4(PLOD1):c.109G>A (p.Glu37Lys)
|
rs369263247
|
0.00004
|
NM_000302.4(PLOD1):c.1387C>T (p.Arg463Trp)
|
rs745946511
|
0.00004
|
NM_000302.4(PLOD1):c.1388G>A (p.Arg463Gln)
|
rs750100311
|
0.00004
|
NM_000302.4(PLOD1):c.1685C>T (p.Thr562Met)
|
rs770120389
|
0.00004
|
NM_000302.4(PLOD1):c.614G>A (p.Arg205His)
|
rs536503346
|
0.00004
|
NM_000302.4(PLOD1):c.742-5G>A
|
rs746658625
|
0.00004
|
NM_000302.4(PLOD1):c.805G>A (p.Val269Met)
|
rs145447578
|
0.00004
|
NM_000393.5(COL5A2):c.3567C>A (p.Asn1189Lys)
|
rs745845130
|
0.00004
|
NM_000393.5(COL5A2):c.3614T>C (p.Val1205Ala)
|
rs148110552
|
0.00004
|
NM_000393.5(COL5A2):c.4172G>A (p.Arg1391His)
|
rs150931608
|
0.00004
|
NM_000393.5(COL5A2):c.851C>T (p.Pro284Leu)
|
rs540573303
|
0.00004
|
NM_001040113.2(MYH11):c.5831C>T (p.Ser1944Leu)
|
rs754183610
|
0.00004
|
NM_001110556.2(FLNA):c.1327C>T (p.Arg443Cys)
|
rs782673341
|
0.00004
|
NM_001110556.2(FLNA):c.1964G>A (p.Arg655His)
|
rs782563602
|
0.00004
|
NM_001110556.2(FLNA):c.2023-5G>A
|
rs782694533
|
0.00004
|
NM_001110556.2(FLNA):c.4183C>T (p.Pro1395Ser)
|
rs782161982
|
0.00004
|
NM_001110556.2(FLNA):c.6175G>A (p.Glu2059Lys)
|
rs782779958
|
0.00004
|
NM_001110556.2(FLNA):c.6314C>G (p.Thr2105Ser)
|
rs200200745
|
0.00004
|
NM_001613.4(ACTA2):c.607G>A (p.Val203Ile)
|
rs397516684
|
0.00004
|
NM_001999.4(FBN2):c.2363G>A (p.Arg788His)
|
rs368116715
|
0.00004
|
NM_001999.4(FBN2):c.2722G>A (p.Glu908Lys)
|
rs1204772554
|
0.00004
|
NM_001999.4(FBN2):c.3805A>G (p.Ser1269Gly)
|
rs765649978
|
0.00004
|
NM_001999.4(FBN2):c.4259G>A (p.Ser1420Asn)
|
rs751406554
|
0.00004
|
NM_001999.4(FBN2):c.4286C>T (p.Pro1429Leu)
|
rs771467729
|
0.00004
|
NM_001999.4(FBN2):c.4724G>A (p.Arg1575His)
|
rs776040052
|
0.00004
|
NM_001999.4(FBN2):c.6004A>G (p.Asn2002Asp)
|
rs773305589
|
0.00004
|
NM_001999.4(FBN2):c.6628C>T (p.Arg2210Cys)
|
rs200158069
|
0.00004
|
NM_001999.4(FBN2):c.8444A>C (p.Lys2815Thr)
|
rs757028268
|
0.00004
|
NM_002474.3(MYH11):c.1768G>A (p.Ala590Thr)
|
rs745516001
|
0.00004
|
NM_002474.3(MYH11):c.2068C>G (p.Leu690Val)
|
rs775964675
|
0.00004
|
NM_002474.3(MYH11):c.2435A>G (p.Gln812Arg)
|
rs761891932
|
0.00004
|
NM_002474.3(MYH11):c.2579A>T (p.Glu860Val)
|
rs373789068
|
0.00004
|
NM_002474.3(MYH11):c.2724G>T (p.Glu908Asp)
|
rs939496859
|
0.00004
|
NM_002474.3(MYH11):c.2785G>T (p.Ala929Ser)
|
rs906679954
|
0.00004
|
NM_002474.3(MYH11):c.292G>A (p.Glu98Lys)
|
rs773587055
|
0.00004
|
NM_002474.3(MYH11):c.301G>A (p.Val101Met)
|
rs375159635
|
0.00004
|
NM_002474.3(MYH11):c.3030C>G (p.Asp1010Glu)
|
rs374785690
|
0.00004
|
NM_002474.3(MYH11):c.3227C>T (p.Ala1076Val)
|
rs371205331
|
0.00004
|
NM_002474.3(MYH11):c.3560C>T (p.Thr1187Met)
|
rs552818350
|
0.00004
|
NM_002474.3(MYH11):c.3563G>A (p.Arg1188Gln)
|
rs746615097
|
0.00004
|
NM_002474.3(MYH11):c.3817C>T (p.Arg1273Trp)
|
rs142227497
|
0.00004
|
NM_002474.3(MYH11):c.3836A>G (p.Asn1279Ser)
|
rs767533401
|
0.00004
|
NM_002474.3(MYH11):c.4072G>T (p.Ala1358Ser)
|
rs763280025
|
0.00004
|
NM_002474.3(MYH11):c.4403C>T (p.Ala1468Val)
|
rs370240337
|
0.00004
|
NM_002474.3(MYH11):c.4747C>T (p.Arg1583Trp)
|
rs777170587
|
0.00004
|
NM_002474.3(MYH11):c.4900G>A (p.Asp1634Asn)
|
rs549820613
|
0.00004
|
NM_002474.3(MYH11):c.5103G>T (p.Arg1701Ser)
|
rs777827294
|
0.00004
|
NM_002474.3(MYH11):c.5767G>A (p.Ala1923Thr)
|
rs571504063
|
0.00004
|
NM_002474.3(MYH11):c.5808C>T (p.Phe1936=)
|
rs145505544
|
0.00004
|
NM_002474.3(MYH11):c.5887G>A (p.Ala1963Thr)
|
rs146413415
|
0.00004
|
NM_002474.3(MYH11):c.769G>A (p.Val257Met)
|
rs112992497
|
0.00004
|
NM_002474.3(MYH11):c.935A>G (p.Asn312Ser)
|
rs149964928
|
0.00004
|
NM_003036.4(SKI):c.1619C>T (p.Ala540Val)
|
rs764786977
|
0.00004
|
NM_003036.4(SKI):c.1711G>A (p.Val571Met)
|
rs190373826
|
0.00004
|
NM_003036.4(SKI):c.1906C>T (p.Arg636Cys)
|
rs143354709
|
0.00004
|
NM_003238.6(TGFB2):c.518A>G (p.Lys173Arg)
|
rs749692412
|
0.00004
|
NM_003239.5(TGFB3):c.188C>A (p.Thr63Asn)
|
rs757664433
|
0.00004
|
NM_003239.5(TGFB3):c.626G>A (p.Arg209His)
|
rs779897294
|
0.00004
|
NM_003239.5(TGFB3):c.872C>T (p.Pro291Leu)
|
rs145121701
|
0.00004
|
NM_003242.6(TGFBR2):c.1015C>T (p.Arg339Trp)
|
rs761991787
|
0.00004
|
NM_003242.6(TGFBR2):c.116C>A (p.Thr39Asn)
|
rs146277116
|
0.00004
|
NM_003242.6(TGFBR2):c.1316T>C (p.Val439Ala)
|
rs1050833
|
0.00004
|
NM_003242.6(TGFBR2):c.394A>G (p.Thr132Ala)
|
rs146497045
|
0.00004
|
NM_003242.6(TGFBR2):c.511A>G (p.Ser171Gly)
|
rs767581059
|
0.00004
|
NM_003242.6(TGFBR2):c.617C>T (p.Thr206Met)
|
rs150022335
|
0.00004
|
NM_003242.6(TGFBR2):c.620G>A (p.Arg207Gln)
|
rs371209879
|
0.00004
|
NM_003242.6(TGFBR2):c.696C>T (p.Ala232=)
|
rs768508812
|
0.00004
|
NM_003242.6(TGFBR2):c.893A>G (p.Asn298Ser)
|
rs751587466
|
0.00004
|
NM_003242.6(TGFBR2):c.938G>A (p.Arg313Gln)
|
rs200361387
|
0.00004
|
NM_003242.6(TGFBR2):c.95-3C>A
|
rs375330013
|
0.00004
|
NM_004612.4(TGFBR1):c.1065A>C (p.Ala355=)
|
rs758280185
|
0.00004
|
NM_004612.4(TGFBR1):c.1091C>G (p.Thr364Ser)
|
rs201050937
|
0.00004
|
NM_005120.3(MED12):c.1364G>A (p.Arg455Gln)
|
rs760696164
|
0.00004
|
NM_005120.3(MED12):c.1682C>T (p.Pro561Leu)
|
rs766485358
|
0.00004
|
NM_005120.3(MED12):c.6079A>G (p.Ile2027Val)
|
rs750648216
|
0.00004
|
NM_005902.4(SMAD3):c.74G>T (p.Gly25Val)
|
rs191612061
|
0.00004
|
NM_005911.6(MAT2A):c.1027A>G (p.Arg343Gly)
|
rs750105786
|
0.00004
|
NM_005911.6(MAT2A):c.406-3T>C
|
rs747379918
|
0.00004
|
NM_005911.6(MAT2A):c.988A>G (p.Ile330Val)
|
rs753175779
|
0.00004
|
NM_006258.4(PRKG1):c.1228C>T (p.Arg410Cys)
|
rs377519440
|
0.00004
|
NM_006258.4(PRKG1):c.1423A>G (p.Thr475Ala)
|
rs140630065
|
0.00004
|
NM_006258.4(PRKG1):c.1988A>G (p.Asn663Ser)
|
rs766915028
|
0.00004
|
NM_006258.4(PRKG1):c.421A>C (p.Lys141Gln)
|
rs761759814
|
0.00004
|
NM_012186.3(FOXE3):c.703C>T (p.Pro235Ser)
|
rs112802909
|
0.00004
|
NM_017617.5(NOTCH1):c.1864G>A (p.Asp622Asn)
|
rs367873715
|
0.00004
|
NM_017617.5(NOTCH1):c.1903+10C>G
|
rs375704312
|
0.00004
|
NM_017617.5(NOTCH1):c.2108G>A (p.Arg703His)
|
rs561126575
|
0.00004
|
NM_017617.5(NOTCH1):c.2126A>G (p.His709Arg)
|
rs373233257
|
0.00004
|
NM_017617.5(NOTCH1):c.2576C>T (p.Thr859Met)
|
rs199505287
|
0.00004
|
NM_017617.5(NOTCH1):c.3017C>T (p.Thr1006Ile)
|
rs367860186
|
0.00004
|
NM_017617.5(NOTCH1):c.3700C>T (p.Arg1234Trp)
|
rs761304479
|
0.00004
|
NM_017617.5(NOTCH1):c.3980A>G (p.Asn1327Ser)
|
rs751874720
|
0.00004
|
NM_017617.5(NOTCH1):c.3989G>A (p.Arg1330His)
|
rs1180096756
|
0.00004
|
NM_017617.5(NOTCH1):c.4426G>A (p.Gly1476Ser)
|
rs776133530
|
0.00004
|
NM_017617.5(NOTCH1):c.5017G>A (p.Gly1673Ser)
|
rs1226514285
|
0.00004
|
NM_017617.5(NOTCH1):c.5168-4G>A
|
rs751709616
|
0.00004
|
NM_017617.5(NOTCH1):c.5219C>T (p.Ala1740Val)
|
rs777962754
|
0.00004
|
NM_017617.5(NOTCH1):c.5416A>G (p.Met1806Val)
|
rs114479009
|
0.00004
|
NM_017617.5(NOTCH1):c.5638+7G>C
|
rs747630187
|
0.00004
|
NM_017617.5(NOTCH1):c.6284G>A (p.Arg2095His)
|
rs756874994
|
0.00004
|
NM_017617.5(NOTCH1):c.6383C>T (p.Pro2128Leu)
|
rs770713134
|
0.00004
|
NM_017617.5(NOTCH1):c.6521A>G (p.Lys2174Arg)
|
rs761602495
|
0.00004
|
NM_017617.5(NOTCH1):c.6577A>G (p.Ser2193Gly)
|
rs1060502236
|
0.00004
|
NM_017617.5(NOTCH1):c.6727G>A (p.Gly2243Ser)
|
rs61751491
|
0.00004
|
NM_017617.5(NOTCH1):c.7385C>T (p.Pro2462Leu)
|
rs767435492
|
0.00004
|
NM_017617.5(NOTCH1):c.7498C>G (p.His2500Asp)
|
rs763902589
|
0.00004
|
NM_017668.3(NDE1):c.956C>T (p.Thr319Met)
|
rs141262029
|
0.00004
|
NM_017668.3(NDE1):c.964C>T (p.Arg322Cys)
|
rs763467593
|
0.00004
|
NM_017668.3(NDE1):c.968G>C (p.Trp323Ser)
|
rs566506678
|
0.00004
|
NM_030777.4(SLC2A10):c.115G>A (p.Asp39Asn)
|
rs367623970
|
0.00004
|
NM_030777.4(SLC2A10):c.314G>A (p.Arg105His)
|
rs753280877
|
0.00004
|
NM_030777.4(SLC2A10):c.671C>G (p.Ala224Gly)
|
rs371261694
|
0.00004
|
NM_030777.4(SLC2A10):c.680A>G (p.Asn227Ser)
|
rs959288629
|
0.00004
|
NM_030777.4(SLC2A10):c.848C>A (p.Ala283Asp)
|
rs145994112
|
0.00004
|
NM_053025.4(MYLK):c.*165del
|
rs886057856
|
0.00004
|
NM_053025.4(MYLK):c.119G>A (p.Arg40Gln)
|
rs767877538
|
0.00004
|
NM_053025.4(MYLK):c.1213A>G (p.Met405Val)
|
rs35436690
|
0.00004
|
NM_053025.4(MYLK):c.1254C>G (p.Ser418Arg)
|
rs377193216
|
0.00004
|
NM_053025.4(MYLK):c.1375G>A (p.Gly459Ser)
|
rs147311651
|
0.00004
|
NM_053025.4(MYLK):c.2132C>T (p.Thr711Met)
|
rs531232445
|
0.00004
|
NM_053025.4(MYLK):c.226G>A (p.Gly76Arg)
|
rs368413008
|
0.00004
|
NM_053025.4(MYLK):c.26C>T (p.Ser9Leu)
|
rs779148876
|
0.00004
|
NM_053025.4(MYLK):c.2792G>A (p.Arg931Gln)
|
rs371418382
|
0.00004
|
NM_053025.4(MYLK):c.2860C>T (p.Arg954Cys)
|
rs749847711
|
0.00004
|
NM_053025.4(MYLK):c.2936C>T (p.Pro979Leu)
|
rs368229473
|
0.00004
|
NM_053025.4(MYLK):c.3248G>A (p.Gly1083Glu)
|
rs762030142
|
0.00004
|
NM_053025.4(MYLK):c.3281A>T (p.Gln1094Leu)
|
rs530737723
|
0.00004
|
NM_053025.4(MYLK):c.374-9T>C
|
rs376695367
|
0.00004
|
NM_053025.4(MYLK):c.3748C>T (p.Arg1250Cys)
|
rs141481369
|
0.00004
|
NM_053025.4(MYLK):c.3982G>A (p.Val1328Met)
|
rs730880164
|
0.00004
|
NM_053025.4(MYLK):c.4031G>A (p.Arg1344Gln)
|
rs774223564
|
0.00004
|
NM_053025.4(MYLK):c.4303G>A (p.Val1435Met)
|
rs375433770
|
0.00004
|
NM_053025.4(MYLK):c.5001C>T (p.Asn1667=)
|
rs375038682
|
0.00004
|
NM_053025.4(MYLK):c.969G>A (p.Glu323=)
|
rs368095613
|
0.00004
|
NM_053025.4(MYLK):c.998C>T (p.Pro333Leu)
|
rs568039936
|
0.00004
|
NM_000071.3(CBS):c.1205T>C (p.Leu402Pro)
|
rs371214833
|
0.00003
|
NM_000071.3(CBS):c.1316G>A (p.Arg439Gln)
|
rs756467921
|
0.00003
|
NM_000071.3(CBS):c.1484C>T (p.Thr495Met)
|
rs772344567
|
0.00003
|
NM_000071.3(CBS):c.152G>A (p.Arg51Lys)
|
rs370983323
|
0.00003
|
NM_000071.3(CBS):c.209C>T (p.Pro70Leu)
|
rs2229413
|
0.00003
|
NM_000071.3(CBS):c.412C>T (p.Pro138Ser)
|
rs765702034
|
0.00003
|
NM_000071.3(CBS):c.538G>A (p.Val180Met)
|
rs759402521
|
0.00003
|
NM_000071.3(CBS):c.588G>C (p.Arg196Ser)
|
rs555751528
|
0.00003
|
NM_000071.3(CBS):c.616G>A (p.Val206Met)
|
rs369220569
|
0.00003
|
NM_000071.3(CBS):c.791T>C (p.Ile264Thr)
|
rs760212248
|
0.00003
|
NM_000090.4(COL3A1):c.1662C>T (p.Pro554=)
|
rs373963384
|
0.00003
|
NM_000090.4(COL3A1):c.1787G>A (p.Arg596Gln)
|
rs774632188
|
0.00003
|
NM_000090.4(COL3A1):c.2022+6A>T
|
rs368117488
|
0.00003
|
NM_000090.4(COL3A1):c.2038C>T (p.Pro680Ser)
|
rs372027308
|
0.00003
|
NM_000090.4(COL3A1):c.2305C>T (p.Pro769Ser)
|
rs746504108
|
0.00003
|
NM_000090.4(COL3A1):c.3466C>T (p.His1156Tyr)
|
rs776814693
|
0.00003
|
NM_000090.4(COL3A1):c.3809C>G (p.Pro1270Arg)
|
rs778419091
|
0.00003
|
NM_000090.4(COL3A1):c.956C>T (p.Ala319Val)
|
rs754503346
|
0.00003
|
NM_000093.5(COL5A1):c.1075G>A (p.Glu359Lys)
|
rs769752636
|
0.00003
|
NM_000093.5(COL5A1):c.1189G>A (p.Ala397Thr)
|
rs762108965
|
0.00003
|
NM_000093.5(COL5A1):c.1304C>T (p.Pro435Leu)
|
rs772379819
|
0.00003
|
NM_000093.5(COL5A1):c.2182G>A (p.Ala728Thr)
|
rs575535171
|
0.00003
|
NM_000093.5(COL5A1):c.2542C>T (p.Arg848Cys)
|
rs762336160
|
0.00003
|
NM_000093.5(COL5A1):c.2726G>A (p.Arg909Gln)
|
rs747046727
|
0.00003
|
NM_000093.5(COL5A1):c.2946C>T (p.Gly982=)
|
rs1060502253
|
0.00003
|
NM_000093.5(COL5A1):c.3257C>T (p.Ala1086Val)
|
rs774849517
|
0.00003
|
NM_000093.5(COL5A1):c.3428C>T (p.Pro1143Leu)
|
rs540131206
|
0.00003
|
NM_000093.5(COL5A1):c.3529-4G>A
|
rs779064113
|
0.00003
|
NM_000093.5(COL5A1):c.3788C>T (p.Pro1263Leu)
|
rs140244245
|
0.00003
|
NM_000093.5(COL5A1):c.4192G>A (p.Ala1398Thr)
|
rs759464073
|
0.00003
|
NM_000093.5(COL5A1):c.4240G>A (p.Gly1414Ser)
|
rs776709663
|
0.00003
|
NM_000093.5(COL5A1):c.660C>G (p.Asp220Glu)
|
rs570691491
|
0.00003
|
NM_000093.5(COL5A1):c.739G>A (p.Ala247Thr)
|
rs769115550
|
0.00003
|
NM_000138.5(FBN1):c.*1375A>C
|
rs1049315076
|
0.00003
|
NM_000138.5(FBN1):c.*1619T>A
|
rs374297351
|
0.00003
|
NM_000138.5(FBN1):c.*1672G>A
|
rs886051231
|
0.00003
|
NM_000138.5(FBN1):c.*845C>T
|
rs1022238055
|
0.00003
|
NM_000138.5(FBN1):c.-98G>T
|
rs886051254
|
0.00003
|
NM_000138.5(FBN1):c.139G>A (p.Gly47Ser)
|
rs762400500
|
0.00003
|
NM_000138.5(FBN1):c.1747C>T (p.Leu583Phe)
|
rs767293952
|
0.00003
|
NM_000138.5(FBN1):c.2056G>A (p.Ala686Thr)
|
rs377621293
|
0.00003
|
NM_000138.5(FBN1):c.2930T>G (p.Met977Arg)
|
rs199682686
|
0.00003
|
NM_000138.5(FBN1):c.3223C>T (p.Arg1075Cys)
|
rs186805359
|
0.00003
|
NM_000138.5(FBN1):c.3389A>G (p.His1130Arg)
|
rs747189975
|
0.00003
|
NM_000138.5(FBN1):c.3455C>T (p.Ala1152Val)
|
rs539103389
|
0.00003
|
NM_000138.5(FBN1):c.3523A>G (p.Ile1175Val)
|
rs756754760
|
0.00003
|
NM_000138.5(FBN1):c.378A>G (p.Gly126=)
|
rs149611106
|
0.00003
|
NM_000138.5(FBN1):c.4337-5C>G
|
rs370959127
|
0.00003
|
NM_000138.5(FBN1):c.4405C>T (p.Arg1469Cys)
|
rs587782946
|
0.00003
|
NM_000138.5(FBN1):c.5311C>T (p.Arg1771Trp)
|
rs767884599
|
0.00003
|
NM_000138.5(FBN1):c.5671+7A>G
|
rs751170564
|
0.00003
|
NM_000138.5(FBN1):c.6044A>T (p.Asp2015Val)
|
rs746719632
|
0.00003
|
NM_000138.5(FBN1):c.6338A>T (p.Tyr2113Phe)
|
rs363816
|
0.00003
|
NM_000138.5(FBN1):c.6623A>G (p.Asn2208Ser)
|
rs146063839
|
0.00003
|
NM_000138.5(FBN1):c.6890C>T (p.Thr2297Met)
|
rs773785908
|
0.00003
|
NM_000138.5(FBN1):c.7241G>A (p.Arg2414Gln)
|
rs143863014
|
0.00003
|
NM_000138.5(FBN1):c.7430A>G (p.Gln2477Arg)
|
rs747777955
|
0.00003
|
NM_000138.5(FBN1):c.7451A>G (p.Lys2484Arg)
|
rs374630707
|
0.00003
|
NM_000138.5(FBN1):c.7684G>A (p.Gly2562Ser)
|
rs1397580172
|
0.00003
|
NM_000138.5(FBN1):c.8202C>T (p.Asn2734=)
|
rs113904256
|
0.00003
|
NM_000138.5(FBN1):c.8219A>G (p.Asn2740Ser)
|
rs193922242
|
0.00003
|
NM_000138.5(FBN1):c.8224G>A (p.Glu2742Lys)
|
rs750199580
|
0.00003
|
NM_000138.5(FBN1):c.843A>C (p.Glu281Asp)
|
rs772218768
|
0.00003
|
NM_000138.5(FBN1):c.885T>G (p.Ile295Met)
|
rs151056963
|
0.00003
|
NM_000302.4(PLOD1):c.1098-3C>T
|
rs541901674
|
0.00003
|
NM_000302.4(PLOD1):c.1255T>C (p.Trp419Arg)
|
rs373446893
|
0.00003
|
NM_000302.4(PLOD1):c.1288C>T (p.Arg430Cys)
|
rs370790682
|
0.00003
|
NM_000302.4(PLOD1):c.136C>T (p.Arg46Cys)
|
rs138698098
|
0.00003
|
NM_000302.4(PLOD1):c.1658C>T (p.Pro553Leu)
|
rs754569828
|
0.00003
|
NM_000302.4(PLOD1):c.1678A>G (p.Ile560Val)
|
rs369696269
|
0.00003
|
NM_000302.4(PLOD1):c.1772G>A (p.Gly591Asp)
|
rs748646169
|
0.00003
|
NM_000302.4(PLOD1):c.2057A>G (p.Asn686Ser)
|
rs747393648
|
0.00003
|
NM_000302.4(PLOD1):c.2141C>T (p.Thr714Ile)
|
rs370498584
|
0.00003
|
NM_000302.4(PLOD1):c.2152C>T (p.Arg718Cys)
|
rs754650948
|
0.00003
|
NM_000302.4(PLOD1):c.307G>A (p.Asp103Asn)
|
rs774590964
|
0.00003
|
NM_000302.4(PLOD1):c.407G>A (p.Arg136His)
|
rs148510973
|
0.00003
|
NM_000302.4(PLOD1):c.712G>T (p.Val238Phe)
|
rs777914756
|
0.00003
|
NM_000302.4(PLOD1):c.842G>A (p.Gly281Glu)
|
rs1056398577
|
0.00003
|
NM_000302.4(PLOD1):c.893C>T (p.Thr298Met)
|
rs879902079
|
0.00003
|
NM_000393.5(COL5A2):c.1005+3A>G
|
rs375809563
|
0.00003
|
NM_000393.5(COL5A2):c.1073C>T (p.Ala358Val)
|
rs886039197
|
0.00003
|
NM_000393.5(COL5A2):c.3246G>C (p.Gln1082His)
|
rs1039715132
|
0.00003
|
NM_000393.5(COL5A2):c.3848G>A (p.Arg1283His)
|
rs747653593
|
0.00003
|
NM_000393.5(COL5A2):c.4402A>G (p.Asn1468Asp)
|
rs756550702
|
0.00003
|
NM_000393.5(COL5A2):c.4451G>A (p.Gly1484Asp)
|
rs761481937
|
0.00003
|
NM_000393.5(COL5A2):c.463C>T (p.Arg155Cys)
|
rs767252151
|
0.00003
|
NM_001110556.2(FLNA):c.1019G>A (p.Arg340His)
|
rs371368679
|
0.00003
|
NM_001110556.2(FLNA):c.1609G>A (p.Val537Met)
|
rs782067087
|
0.00003
|
NM_001110556.2(FLNA):c.2057G>A (p.Gly686Asp)
|
rs1360829798
|
0.00003
|
NM_001110556.2(FLNA):c.2405-5C>T
|
rs781892155
|
0.00003
|
NM_001110556.2(FLNA):c.2925G>C (p.Lys975Asn)
|
rs375495397
|
0.00003
|
NM_001110556.2(FLNA):c.3224C>T (p.Pro1075Leu)
|
rs782406278
|
0.00003
|
NM_001110556.2(FLNA):c.3242G>A (p.Ser1081Asn)
|
rs782561908
|
0.00003
|
NM_001110556.2(FLNA):c.3368C>G (p.Ser1123Cys)
|
rs782361719
|
0.00003
|
NM_001110556.2(FLNA):c.3985C>T (p.His1329Tyr)
|
rs782746289
|
0.00003
|
NM_001110556.2(FLNA):c.4106C>T (p.Thr1369Ile)
|
rs376774130
|
0.00003
|
NM_001110556.2(FLNA):c.5062G>A (p.Val1688Met)
|
rs782751731
|
0.00003
|
NM_001110556.2(FLNA):c.5219C>T (p.Ala1740Val)
|
rs782714867
|
0.00003
|
NM_001110556.2(FLNA):c.5951C>T (p.Thr1984Met)
|
rs782639698
|
0.00003
|
NM_001110556.2(FLNA):c.6863G>A (p.Arg2288His)
|
rs782275601
|
0.00003
|
NM_001110556.2(FLNA):c.6871G>A (p.Gly2291Ser)
|
rs797044739
|
0.00003
|
NM_001110556.2(FLNA):c.7059T>G (p.Phe2353Leu)
|
rs864622713
|
0.00003
|
NM_001110556.2(FLNA):c.7846G>A (p.Val2616Met)
|
rs369791082
|
0.00003
|
NM_001613.4(ACTA2):c.1087G>C (p.Glu363Gln)
|
rs778257647
|
0.00003
|
NM_001613.4(ACTA2):c.403T>C (p.Tyr135His)
|
rs751300489
|
0.00003
|
NM_001613.4(ACTA2):c.959C>T (p.Thr320Met)
|
rs757656209
|
0.00003
|
NM_001613.4(ACTA2):c.977C>A (p.Thr326Asn)
|
rs777832794
|
0.00003
|
NM_001999.4(FBN2):c.1423G>A (p.Gly475Ser)
|
rs200440156
|
0.00003
|
NM_001999.4(FBN2):c.1526G>T (p.Arg509Leu)
|
rs199587570
|
0.00003
|
NM_001999.4(FBN2):c.244G>A (p.Val82Met)
|
rs550387143
|
0.00003
|
NM_001999.4(FBN2):c.2943G>T (p.Glu981Asp)
|
rs142249689
|
0.00003
|
NM_001999.4(FBN2):c.3061C>T (p.Arg1021Cys)
|
rs541842635
|
0.00003
|
NM_001999.4(FBN2):c.3670C>T (p.Gln1224Ter)
|
rs863223569
|
0.00003
|
NM_001999.4(FBN2):c.3709C>T (p.Arg1237Cys)
|
rs746570981
|
0.00003
|
NM_001999.4(FBN2):c.3710G>T (p.Arg1237Leu)
|
rs142185964
|
0.00003
|
NM_001999.4(FBN2):c.4103T>C (p.Val1368Ala)
|
rs28763942
|
0.00003
|
NM_001999.4(FBN2):c.5638G>A (p.Ala1880Thr)
|
rs546148828
|
0.00003
|
NM_001999.4(FBN2):c.5966G>A (p.Arg1989His)
|
rs189964478
|
0.00003
|
NM_001999.4(FBN2):c.6007G>A (p.Glu2003Lys)
|
rs995323393
|
0.00003
|
NM_001999.4(FBN2):c.7879G>A (p.Gly2627Ser)
|
rs369568420
|
0.00003
|
NM_001999.4(FBN2):c.8305G>A (p.Gly2769Ser)
|
rs372206279
|
0.00003
|
NM_001999.4(FBN2):c.8596G>A (p.Gly2866Ser)
|
rs752201545
|
0.00003
|
NM_001999.4(FBN2):c.8644G>C (p.Glu2882Gln)
|
rs765693576
|
0.00003
|
NM_001999.4(FBN2):c.8701G>A (p.Glu2901Lys)
|
rs781069799
|
0.00003
|
NM_002474.3(MYH11):c.-17-13C>T
|
rs545560860
|
0.00003
|
NM_002474.3(MYH11):c.1018G>A (p.Glu340Lys)
|
rs145768331
|
0.00003
|
NM_002474.3(MYH11):c.101G>C (p.Arg34Thr)
|
rs199654191
|
0.00003
|
NM_002474.3(MYH11):c.1904C>T (p.Thr635Met)
|
rs745878375
|
0.00003
|
NM_002474.3(MYH11):c.2000C>T (p.Thr667Met)
|
rs750066715
|
0.00003
|
NM_002474.3(MYH11):c.2158G>A (p.Val720Ile)
|
rs756408490
|
0.00003
|
NM_002474.3(MYH11):c.2237C>G (p.Ala746Gly)
|
rs778651094
|
0.00003
|
NM_002474.3(MYH11):c.2659G>A (p.Glu887Lys)
|
rs201387564
|
0.00003
|
NM_002474.3(MYH11):c.2807A>T (p.Asp936Val)
|
rs1341541765
|
0.00003
|
NM_002474.3(MYH11):c.2828C>A (p.Ala943Asp)
|
rs763514919
|
0.00003
|
NM_002474.3(MYH11):c.2960T>C (p.Ile987Thr)
|
rs770004584
|
0.00003
|
NM_002474.3(MYH11):c.3035C>T (p.Thr1012Met)
|
rs373881911
|
0.00003
|
NM_002474.3(MYH11):c.3104T>C (p.Met1035Thr)
|
rs557463209
|
0.00003
|
NM_002474.3(MYH11):c.3433G>A (p.Gly1145Ser)
|
rs761657319
|
0.00003
|
NM_002474.3(MYH11):c.3808G>A (p.Asp1270Asn)
|
rs770319821
|
0.00003
|
NM_002474.3(MYH11):c.3853C>G (p.Leu1285Val)
|
rs1023178766
|
0.00003
|
NM_002474.3(MYH11):c.4372G>A (p.Ala1458Thr)
|
rs775154820
|
0.00003
|
NM_002474.3(MYH11):c.4735G>A (p.Asp1579Asn)
|
rs369751362
|
0.00003
|
NM_002474.3(MYH11):c.4835G>A (p.Arg1612His)
|
rs781252922
|
0.00003
|
NM_002474.3(MYH11):c.4933A>C (p.Lys1645Gln)
|
rs375607145
|
0.00003
|
NM_002474.3(MYH11):c.503-12T>A
|
rs757533996
|
0.00003
|
NM_002474.3(MYH11):c.5092G>A (p.Ala1698Thr)
|
rs187172581
|
0.00003
|
NM_002474.3(MYH11):c.5392C>T (p.Arg1798Trp)
|
rs371581038
|
0.00003
|
NM_002474.3(MYH11):c.53A>G (p.Lys18Arg)
|
rs756777282
|
0.00003
|
NM_002474.3(MYH11):c.5596G>A (p.Glu1866Lys)
|
rs148743922
|
0.00003
|
NM_002474.3(MYH11):c.5774A>G (p.Lys1925Arg)
|
rs886051736
|
0.00003
|
NM_002474.3(MYH11):c.758C>T (p.Thr253Met)
|
rs745787304
|
0.00003
|
NM_002474.3(MYH11):c.94G>A (p.Ala32Thr)
|
rs765295579
|
0.00003
|
NM_003036.4(SKI):c.1000C>T (p.Pro334Ser)
|
rs775433131
|
0.00003
|
NM_003036.4(SKI):c.1187A>G (p.His396Arg)
|
rs987527805
|
0.00003
|
NM_003036.4(SKI):c.1426G>A (p.Glu476Lys)
|
rs1553200926
|
0.00003
|
NM_003036.4(SKI):c.142A>C (p.Lys48Gln)
|
rs946543006
|
0.00003
|
NM_003036.4(SKI):c.1573G>A (p.Val525Ile)
|
rs141961299
|
0.00003
|
NM_003036.4(SKI):c.1877A>T (p.Lys626Met)
|
rs774106502
|
0.00003
|
NM_003036.4(SKI):c.188C>T (p.Pro63Leu)
|
rs766569890
|
0.00003
|
NM_003036.4(SKI):c.593C>T (p.Pro198Leu)
|
rs1371410513
|
0.00003
|
NM_003036.4(SKI):c.964C>T (p.Pro322Ser)
|
rs779317743
|
0.00003
|
NM_003239.5(TGFB3):c.1135G>A (p.Val379Met)
|
rs757031677
|
0.00003
|
NM_003239.5(TGFB3):c.797G>A (p.Arg266His)
|
rs142069844
|
0.00003
|
NM_003239.5(TGFB3):c.859C>T (p.Arg287Trp)
|
rs757774610
|
0.00003
|
NM_003242.6(TGFBR2):c.*2425C>A
|
rs886058329
|
0.00003
|
NM_003242.6(TGFBR2):c.*328A>C
|
rs886058309
|
0.00003
|
NM_003242.6(TGFBR2):c.1027A>G (p.Ser343Gly)
|
rs758614833
|
0.00003
|
NM_003242.6(TGFBR2):c.1470C>T (p.Asn490=)
|
rs141113059
|
0.00003
|
NM_003242.6(TGFBR2):c.374A>G (p.Glu125Gly)
|
rs762282124
|
0.00003
|
NM_003242.6(TGFBR2):c.452A>T (p.Glu151Val)
|
rs757051948
|
0.00003
|
NM_003242.6(TGFBR2):c.569G>A (p.Arg190His)
|
rs780542125
|
0.00003
|
NM_003242.6(TGFBR2):c.64A>T (p.Ser22Cys)
|
rs767407566
|
0.00003
|
NM_003242.6(TGFBR2):c.671G>A (p.Arg224His)
|
rs112465572
|
0.00003
|
NM_003242.6(TGFBR2):c.690G>A (p.Thr230=)
|
rs201560560
|
0.00003
|
NM_003242.6(TGFBR2):c.94+16278G>C
|
rs557449314
|
0.00003
|
NM_004612.4(TGFBR1):c.*1959G>T
|
rs886063237
|
0.00003
|
NM_004612.4(TGFBR1):c.*4793A>G
|
rs77001090
|
0.00003
|
NM_004612.4(TGFBR1):c.-4G>A
|
rs1007933061
|
0.00003
|
NM_004612.4(TGFBR1):c.134A>G (p.Asn45Ser)
|
rs387906696
|
0.00003
|
NM_004612.4(TGFBR1):c.56C>T (p.Ala19Val)
|
rs1217107691
|
0.00003
|
NM_004612.4(TGFBR1):c.926C>T (p.Thr309Met)
|
rs200518416
|
0.00003
|
NM_005120.3(MED12):c.1619G>A (p.Arg540His)
|
rs774363039
|
0.00003
|
NM_005120.3(MED12):c.3985C>G (p.Arg1329Gly)
|
rs766827969
|
0.00003
|
NM_005120.3(MED12):c.4711G>A (p.Asp1571Asn)
|
rs962560401
|
0.00003
|
NM_005120.3(MED12):c.6268-4A>G
|
rs780580344
|
0.00003
|
NM_005902.4(SMAD3):c.*2573G>A
|
rs886051418
|
0.00003
|
NM_005902.4(SMAD3):c.*552G>C
|
rs769408016
|
0.00003
|
NM_005902.4(SMAD3):c.1070A>G (p.Asn357Ser)
|
rs140880290
|
0.00003
|
NM_005902.4(SMAD3):c.1120A>G (p.Met374Val)
|
rs370394986
|
0.00003
|
NM_005902.4(SMAD3):c.1186A>G (p.Ile396Val)
|
rs1317532064
|
0.00003
|
NM_005902.4(SMAD3):c.1258C>T (p.Arg420Cys)
|
rs1206533102
|
0.00003
|
NM_005902.4(SMAD3):c.394A>G (p.Thr132Ala)
|
rs371876622
|
0.00003
|
NM_005902.4(SMAD3):c.533-13_533-10del
|
rs752716057
|
0.00003
|
NM_005902.4(SMAD3):c.632C>T (p.Pro211Leu)
|
rs772510704
|
0.00003
|
NM_005902.4(SMAD3):c.981C>G (p.His327Gln)
|
rs780274581
|
0.00003
|
NM_006258.4(PRKG1):c.1229G>A (p.Arg410His)
|
rs201147665
|
0.00003
|
NM_006258.4(PRKG1):c.1832+5G>A
|
rs752357283
|
0.00003
|
NM_017617.5(NOTCH1):c.1262A>G (p.Asn421Ser)
|
rs928512979
|
0.00003
|
NM_017617.5(NOTCH1):c.128C>T (p.Thr43Met)
|
rs371103280
|
0.00003
|
NM_017617.5(NOTCH1):c.1747G>A (p.Gly583Ser)
|
rs757066417
|
0.00003
|
NM_017617.5(NOTCH1):c.1801G>A (p.Glu601Lys)
|
rs749381544
|
0.00003
|
NM_017617.5(NOTCH1):c.2107C>T (p.Arg703Cys)
|
rs746213819
|
0.00003
|
NM_017617.5(NOTCH1):c.2458C>T (p.Pro820Ser)
|
rs1379596542
|
0.00003
|
NM_017617.5(NOTCH1):c.2588-5C>T
|
rs764684418
|
0.00003
|
NM_017617.5(NOTCH1):c.2654A>G (p.Gln885Arg)
|
rs764327751
|
0.00003
|
NM_017617.5(NOTCH1):c.3341G>A (p.Arg1114His)
|
rs777684045
|
0.00003
|
NM_017617.5(NOTCH1):c.3510+3G>A
|
rs372739350
|
0.00003
|
NM_017617.5(NOTCH1):c.3552C>T (p.Ile1184=)
|
rs773375573
|
0.00003
|
NM_017617.5(NOTCH1):c.4013C>T (p.Ala1338Val)
|
rs1397249771
|
0.00003
|
NM_017617.5(NOTCH1):c.4078G>A (p.Gly1360Ser)
|
rs769493139
|
0.00003
|
NM_017617.5(NOTCH1):c.4918G>A (p.Ala1640Thr)
|
rs976118697
|
0.00003
|
NM_017617.5(NOTCH1):c.500C>T (p.Pro167Leu)
|
rs370951369
|
0.00003
|
NM_017617.5(NOTCH1):c.526C>T (p.Arg176Trp)
|
rs575513935
|
0.00003
|
NM_017617.5(NOTCH1):c.5422G>A (p.Asp1808Asn)
|
rs571739078
|
0.00003
|
NM_017617.5(NOTCH1):c.5573T>C (p.Met1858Thr)
|
rs375102032
|
0.00003
|
NM_017617.5(NOTCH1):c.6149A>G (p.Asn2050Ser)
|
rs759344174
|
0.00003
|
NM_017617.5(NOTCH1):c.6313A>G (p.Met2105Val)
|
rs748138179
|
0.00003
|
NM_017617.5(NOTCH1):c.6481C>T (p.Pro2161Ser)
|
rs201518848
|
0.00003
|
NM_017617.5(NOTCH1):c.6760G>A (p.Glu2254Lys)
|
rs1163673587
|
0.00003
|
NM_017617.5(NOTCH1):c.6770C>T (p.Ala2257Val)
|
rs377112509
|
0.00003
|
NM_017617.5(NOTCH1):c.7115G>A (p.Arg2372Gln)
|
rs373119531
|
0.00003
|
NM_017668.3(NDE1):c.*259G>T
|
rs886051742
|
0.00003
|
NM_017668.3(NDE1):c.948-3357C>T
|
rs376779423
|
0.00003
|
NM_017668.3(NDE1):c.980C>T (p.Ser327Leu)
|
rs794728668
|
0.00003
|
NM_030777.4(SLC2A10):c.119T>C (p.Phe40Ser)
|
rs372166877
|
0.00003
|
NM_030777.4(SLC2A10):c.1331G>A (p.Arg444Gln)
|
rs148324236
|
0.00003
|
NM_030777.4(SLC2A10):c.1351T>G (p.Cys451Gly)
|
rs199599532
|
0.00003
|
NM_030777.4(SLC2A10):c.1402G>A (p.Asp468Asn)
|
rs768345011
|
0.00003
|
NM_030777.4(SLC2A10):c.322G>A (p.Val108Ile)
|
rs373375540
|
0.00003
|
NM_030777.4(SLC2A10):c.920T>A (p.Met307Lys)
|
rs768142427
|
0.00003
|
NM_030777.4(SLC2A10):c.923C>T (p.Ala308Val)
|
rs776373143
|
0.00003
|
NM_030777.4(SLC2A10):c.929C>T (p.Ser310Phe)
|
rs763521707
|
0.00003
|
NM_053025.4(MYLK):c.1009G>C (p.Val337Leu)
|
rs760242263
|
0.00003
|
NM_053025.4(MYLK):c.1075C>A (p.Pro359Thr)
|
rs202225055
|
0.00003
|
NM_053025.4(MYLK):c.1360G>A (p.Val454Met)
|
rs746226982
|
0.00003
|
NM_053025.4(MYLK):c.1509A>G (p.Gln503=)
|
rs948829374
|
0.00003
|
NM_053025.4(MYLK):c.1673G>A (p.Arg558His)
|
rs753464560
|
0.00003
|
NM_053025.4(MYLK):c.169C>T (p.Arg57Trp)
|
rs776636237
|
0.00003
|
NM_053025.4(MYLK):c.1724C>T (p.Pro575Leu)
|
rs761639849
|
0.00003
|
NM_053025.4(MYLK):c.1957G>A (p.Glu653Lys)
|
rs142765858
|
0.00003
|
NM_053025.4(MYLK):c.2096A>G (p.Asn699Ser)
|
rs757524646
|
0.00003
|
NM_053025.4(MYLK):c.2113C>T (p.Arg705Cys)
|
rs547322504
|
0.00003
|
NM_053025.4(MYLK):c.2599G>A (p.Glu867Lys)
|
rs989370486
|
0.00003
|
NM_053025.4(MYLK):c.2701C>G (p.Leu901Val)
|
rs765778763
|
0.00003
|
NM_053025.4(MYLK):c.2918C>T (p.Pro973Leu)
|
rs760450984
|
0.00003
|
NM_053025.4(MYLK):c.3133G>A (p.Glu1045Lys)
|
rs773540567
|
0.00003
|
NM_053025.4(MYLK):c.343C>T (p.Arg115Cys)
|
rs146921745
|
0.00003
|
NM_053025.4(MYLK):c.3463G>A (p.Val1155Ile)
|
rs201251944
|
0.00003
|
NM_053025.4(MYLK):c.3659C>T (p.Ala1220Val)
|
rs370872760
|
0.00003
|
NM_053025.4(MYLK):c.3910C>G (p.His1304Asp)
|
rs758161864
|
0.00003
|
NM_053025.4(MYLK):c.4130C>T (p.Thr1377Met)
|
rs750002545
|
0.00003
|
NM_053025.4(MYLK):c.4397T>C (p.Ile1466Thr)
|
rs766722671
|
0.00003
|
NM_053025.4(MYLK):c.4744G>A (p.Val1582Met)
|
rs755510742
|
0.00003
|
NM_053025.4(MYLK):c.4838-3C>T
|
rs776825316
|
0.00003
|
NM_053025.4(MYLK):c.5132C>T (p.Thr1711Met)
|
rs374662467
|
0.00003
|
NM_053025.4(MYLK):c.5447G>A (p.Arg1816His)
|
rs140636141
|
0.00003
|
NM_053025.4(MYLK):c.619G>A (p.Val207Met)
|
rs756560698
|
0.00003
|
NM_053025.4(MYLK):c.661C>T (p.His221Tyr)
|
rs760622096
|
0.00003
|
NM_000071.3(CBS):c.1342G>A (p.Val448Met)
|
rs865989946
|
0.00002
|
NM_000071.3(CBS):c.599C>T (p.Pro200Leu)
|
rs758712880
|
0.00002
|
NM_000090.4(COL3A1):c.1283G>A (p.Arg428Gln)
|
rs1021622002
|
0.00002
|
NM_000090.4(COL3A1):c.1525C>T (p.Arg509Cys)
|
rs1485092842
|
0.00002
|
NM_000090.4(COL3A1):c.1885A>G (p.Lys629Glu)
|
rs1466862530
|
0.00002
|
NM_000090.4(COL3A1):c.1895C>T (p.Thr632Ile)
|
rs769039976
|
0.00002
|
NM_000090.4(COL3A1):c.2287C>T (p.Pro763Ser)
|
rs771671892
|
0.00002
|
NM_000090.4(COL3A1):c.3001C>G (p.Pro1001Ala)
|
rs777180110
|
0.00002
|
NM_000090.4(COL3A1):c.3145C>A (p.Pro1049Thr)
|
rs775562650
|
0.00002
|
NM_000090.4(COL3A1):c.3461G>C (p.Ser1154Thr)
|
rs147054108
|
0.00002
|
NM_000090.4(COL3A1):c.3484C>T (p.Pro1162Ser)
|
rs762147747
|
0.00002
|
NM_000090.4(COL3A1):c.3497G>A (p.Arg1166Gln)
|
rs369494336
|
0.00002
|
NM_000090.4(COL3A1):c.3653C>T (p.Pro1218Leu)
|
rs763901831
|
0.00002
|
NM_000090.4(COL3A1):c.3764G>A (p.Arg1255His)
|
rs368119434
|
0.00002
|
NM_000090.4(COL3A1):c.4073G>A (p.Arg1358Gln)
|
rs745656610
|
0.00002
|
NM_000090.4(COL3A1):c.4346T>C (p.Ile1449Thr)
|
rs932369090
|
0.00002
|
NM_000090.4(COL3A1):c.4378G>A (p.Val1460Ile)
|
rs561556753
|
0.00002
|
NM_000090.4(COL3A1):c.599A>C (p.Gln200Pro)
|
rs780921226
|
0.00002
|
NM_000090.4(COL3A1):c.874G>A (p.Glu292Lys)
|
rs138818489
|
0.00002
|
NM_000090.4(COL3A1):c.923G>A (p.Arg308Gln)
|
rs753589858
|
0.00002
|
NM_000093.5(COL5A1):c.1208A>T (p.Glu403Val)
|
rs752746395
|
0.00002
|
NM_000093.5(COL5A1):c.1574G>A (p.Arg525Gln)
|
rs375762619
|
0.00002
|
NM_000093.5(COL5A1):c.2483G>A (p.Arg828Gln)
|
rs781317910
|
0.00002
|
NM_000093.5(COL5A1):c.2750C>T (p.Pro917Leu)
|
rs375600865
|
0.00002
|
NM_000093.5(COL5A1):c.3605C>T (p.Pro1202Leu)
|
rs1198718473
|
0.00002
|
NM_000093.5(COL5A1):c.3856G>A (p.Glu1286Lys)
|
rs149717587
|
0.00002
|
NM_000093.5(COL5A1):c.4652C>T (p.Thr1551Ile)
|
rs863223460
|
0.00002
|
NM_000093.5(COL5A1):c.4879C>T (p.Arg1627Trp)
|
rs558906147
|
0.00002
|
NM_000093.5(COL5A1):c.526A>C (p.Asn176His)
|
rs369396868
|
0.00002
|
NM_000093.5(COL5A1):c.52C>T (p.Pro18Ser)
|
rs1060502260
|
0.00002
|
NM_000093.5(COL5A1):c.5339C>A (p.Pro1780His)
|
rs746104317
|
0.00002
|
NM_000093.5(COL5A1):c.583G>A (p.Asp195Asn)
|
rs781248560
|
0.00002
|
NM_000138.5(FBN1):c.*1249A>G
|
rs1456413075
|
0.00002
|
NM_000138.5(FBN1):c.*1398G>C
|
rs886051234
|
0.00002
|
NM_000138.5(FBN1):c.*1484C>T
|
rs533502309
|
0.00002
|
NM_000138.5(FBN1):c.*253A>T
|
rs539383558
|
0.00002
|
NM_000138.5(FBN1):c.1370G>A (p.Arg457His)
|
rs141217134
|
0.00002
|
NM_000138.5(FBN1):c.1547G>A (p.Arg516Gln)
|
rs775489067
|
0.00002
|
NM_000138.5(FBN1):c.1562G>A (p.Ser521Asn)
|
rs749253325
|
0.00002
|
NM_000138.5(FBN1):c.1961-7T>C
|
rs878853675
|
0.00002
|
NM_000138.5(FBN1):c.2093C>T (p.Pro698Leu)
|
rs764827921
|
0.00002
|
NM_000138.5(FBN1):c.2344A>G (p.Arg782Gly)
|
rs752891726
|
0.00002
|
NM_000138.5(FBN1):c.2390T>G (p.Ile797Ser)
|
rs983469033
|
0.00002
|
NM_000138.5(FBN1):c.2547C>G (p.Ile849Met)
|
rs778258207
|
0.00002
|
NM_000138.5(FBN1):c.2582G>A (p.Arg861Gln)
|
rs794728328
|
0.00002
|
NM_000138.5(FBN1):c.2854+5A>G
|
rs762989672
|
0.00002
|
NM_000138.5(FBN1):c.2883G>T (p.Arg961Ser)
|
rs142964120
|
0.00002
|
NM_000138.5(FBN1):c.2893G>C (p.Glu965Gln)
|
rs748905831
|
0.00002
|
NM_000138.5(FBN1):c.2950G>A (p.Val984Ile)
|
rs747713929
|
0.00002
|
NM_000138.5(FBN1):c.2980G>A (p.Glu994Lys)
|
rs780301913
|
0.00002
|
NM_000138.5(FBN1):c.3026C>G (p.Pro1009Arg)
|
rs148076256
|
0.00002
|
NM_000138.5(FBN1):c.3142A>G (p.Ile1048Val)
|
rs2229324
|
0.00002
|
NM_000138.5(FBN1):c.3403A>G (p.Ser1135Gly)
|
rs749255004
|
0.00002
|
NM_000138.5(FBN1):c.3410G>A (p.Arg1137His)
|
rs137854456
|
0.00002
|
NM_000138.5(FBN1):c.3446A>G (p.Asn1149Ser)
|
rs147584221
|
0.00002
|
NM_000138.5(FBN1):c.346+6T>G
|
rs371159129
|
0.00002
|
NM_000138.5(FBN1):c.3785G>A (p.Arg1262Lys)
|
rs371103773
|
0.00002
|
NM_000138.5(FBN1):c.3937G>A (p.Gly1313Ser)
|
rs1156984408
|
0.00002
|
NM_000138.5(FBN1):c.4336+4A>C
|
rs764099050
|
0.00002
|
NM_000138.5(FBN1):c.4337-3A>C
|
rs770551687
|
0.00002
|
NM_000138.5(FBN1):c.4358C>T (p.Pro1453Leu)
|
rs368650399
|
0.00002
|
NM_000138.5(FBN1):c.4406G>A (p.Arg1469His)
|
rs397515808
|
0.00002
|
NM_000138.5(FBN1):c.467A>G (p.Asn156Ser)
|
rs779490973
|
0.00002
|
NM_000138.5(FBN1):c.4999G>A (p.Val1667Ile)
|
rs140626
|
0.00002
|
NM_000138.5(FBN1):c.5123G>A (p.Gly1708Glu)
|
rs758600004
|
0.00002
|
NM_000138.5(FBN1):c.5180G>A (p.Arg1727Gln)
|
rs780993677
|
0.00002
|
NM_000138.5(FBN1):c.5443G>A (p.Gly1815Ser)
|
rs745680336
|
0.00002
|
NM_000138.5(FBN1):c.5467G>A (p.Glu1823Lys)
|
rs567397762
|
0.00002
|
NM_000138.5(FBN1):c.5518C>T (p.Arg1840Cys)
|
rs765387131
|
0.00002
|
NM_000138.5(FBN1):c.5899G>T (p.Asp1967Tyr)
|
rs776999627
|
0.00002
|
NM_000138.5(FBN1):c.6007G>A (p.Gly2003Arg)
|
rs1413737899
|
0.00002
|
NM_000138.5(FBN1):c.601G>A (p.Gly201Arg)
|
rs748358548
|
0.00002
|
NM_000138.5(FBN1):c.6095C>G (p.Thr2032Ser)
|
rs756506237
|
0.00002
|
NM_000138.5(FBN1):c.62C>T (p.Thr21Met)
|
rs1489806847
|
0.00002
|
NM_000138.5(FBN1):c.6534T>A (p.Asn2178Lys)
|
rs770257902
|
0.00002
|
NM_000138.5(FBN1):c.6616+5A>G
|
rs1381778697
|
0.00002
|
NM_000138.5(FBN1):c.6844C>T (p.Arg2282Trp)
|
rs765205164
|
0.00002
|
NM_000138.5(FBN1):c.688C>T (p.Pro230Ser)
|
rs763347530
|
0.00002
|
NM_000138.5(FBN1):c.7000A>T (p.Asn2334Tyr)
|
rs1214531793
|
0.00002
|
NM_000138.5(FBN1):c.7231G>A (p.Asp2411Asn)
|
rs775558051
|
0.00002
|
NM_000138.5(FBN1):c.7283T>C (p.Ile2428Thr)
|
rs565474071
|
0.00002
|
NM_000138.5(FBN1):c.7400A>G (p.Gln2467Arg)
|
rs770839761
|
0.00002
|
NM_000138.5(FBN1):c.7727G>A (p.Arg2576His)
|
rs369888822
|
0.00002
|
NM_000138.5(FBN1):c.8327G>A (p.Arg2776Gln)
|
rs748327743
|
0.00002
|
NM_000138.5(FBN1):c.8386G>A (p.Glu2796Lys)
|
rs112310699
|
0.00002
|
NM_000138.5(FBN1):c.8495G>A (p.Ser2832Asn)
|
rs571906167
|
0.00002
|
NM_000138.5(FBN1):c.8G>C (p.Arg3Pro)
|
rs149929989
|
0.00002
|
NM_000302.4(PLOD1):c.1153G>A (p.Val385Met)
|
rs371223839
|
0.00002
|
NM_000302.4(PLOD1):c.1829G>A (p.Arg610Gln)
|
rs150184664
|
0.00002
|
NM_000302.4(PLOD1):c.182G>A (p.Gly61Glu)
|
rs1485759254
|
0.00002
|
NM_000302.4(PLOD1):c.1888G>A (p.Gly630Ser)
|
rs764750668
|
0.00002
|
NM_000302.4(PLOD1):c.1960A>T (p.Met654Leu)
|
rs1085307517
|
0.00002
|
NM_000302.4(PLOD1):c.2099A>G (p.His700Arg)
|
rs773756799
|
0.00002
|
NM_000302.4(PLOD1):c.310G>A (p.Val104Met)
|
rs141809154
|
0.00002
|
NM_000302.4(PLOD1):c.355C>A (p.Gln119Lys)
|
rs769620321
|
0.00002
|
NM_000302.4(PLOD1):c.410G>C (p.Arg137Thr)
|
rs1156606108
|
0.00002
|
NM_000302.4(PLOD1):c.919C>T (p.Arg307Trp)
|
rs370736543
|
0.00002
|
NM_000302.4(PLOD1):c.971A>G (p.Asn324Ser)
|
rs200524993
|
0.00002
|
NM_000393.5(COL5A2):c.1412G>C (p.Gly471Ala)
|
rs779614415
|
0.00002
|
NM_000393.5(COL5A2):c.1621G>T (p.Ala541Ser)
|
rs768348357
|
0.00002
|
NM_000393.5(COL5A2):c.2031+3A>G
|
rs201947903
|
0.00002
|
NM_000393.5(COL5A2):c.2882C>T (p.Pro961Leu)
|
rs778835151
|
0.00002
|
NM_000393.5(COL5A2):c.293A>G (p.Gln98Arg)
|
rs374402209
|
0.00002
|
NM_000393.5(COL5A2):c.3170C>A (p.Thr1057Asn)
|
rs201186702
|
0.00002
|
NM_000393.5(COL5A2):c.3646G>A (p.Glu1216Lys)
|
rs755429175
|
0.00002
|
NM_000393.5(COL5A2):c.3739C>A (p.Pro1247Thr)
|
rs1243023432
|
0.00002
|
NM_000393.5(COL5A2):c.382C>T (p.Arg128Cys)
|
rs1247714244
|
0.00002
|
NM_001110556.2(FLNA):c.1060C>T (p.His354Tyr)
|
rs1489530369
|
0.00002
|
NM_001110556.2(FLNA):c.1406C>T (p.Pro469Leu)
|
rs782434140
|
0.00002
|
NM_001110556.2(FLNA):c.1454C>T (p.Ala485Val)
|
rs782262202
|
0.00002
|
NM_001110556.2(FLNA):c.1894G>A (p.Asp632Asn)
|
rs782718606
|
0.00002
|
NM_001110556.2(FLNA):c.2162C>T (p.Ala721Val)
|
rs781840723
|
0.00002
|
NM_001110556.2(FLNA):c.2179G>A (p.Gly727Ser)
|
rs1460177575
|
0.00002
|
NM_001110556.2(FLNA):c.2205C>T (p.Tyr735=)
|
rs782551055
|
0.00002
|
NM_001110556.2(FLNA):c.2405-4G>A
|
rs368187218
|
0.00002
|
NM_001110556.2(FLNA):c.2974A>G (p.Thr992Ala)
|
rs782445995
|
0.00002
|
NM_001110556.2(FLNA):c.3251C>T (p.Ser1084Phe)
|
rs1557177797
|
0.00002
|
NM_001110556.2(FLNA):c.3611C>T (p.Pro1204Leu)
|
rs376726422
|
0.00002
|
NM_001110556.2(FLNA):c.3934C>T (p.Arg1312Cys)
|
rs781928289
|
0.00002
|
NM_001110556.2(FLNA):c.4420G>A (p.Asp1474Asn)
|
rs782129236
|
0.00002
|
NM_001110556.2(FLNA):c.4759C>T (p.Pro1587Ser)
|
rs782258746
|
0.00002
|
NM_001110556.2(FLNA):c.6002G>A (p.Arg2001Gln)
|
rs1483960506
|
0.00002
|
NM_001110556.2(FLNA):c.61G>T (p.Val21Phe)
|
rs1223954254
|
0.00002
|
NM_001110556.2(FLNA):c.7259T>C (p.Val2420Ala)
|
rs782289803
|
0.00002
|
NM_001110556.2(FLNA):c.7796C>A (p.Thr2599Asn)
|
rs782593788
|
0.00002
|
NM_001110556.2(FLNA):c.841C>G (p.Pro281Ala)
|
rs2067770833
|
0.00002
|
NM_001613.4(ACTA2):c.1120C>T (p.Arg374Cys)
|
rs757166963
|
0.00002
|
NM_001613.4(ACTA2):c.129+5G>A
|
rs373402293
|
0.00002
|
NM_001613.4(ACTA2):c.369+7A>G
|
rs760471677
|
0.00002
|
NM_001613.4(ACTA2):c.401T>C (p.Met134Thr)
|
rs181698127
|
0.00002
|
NM_001999.4(FBN2):c.1553G>A (p.Arg518Gln)
|
rs748051713
|
0.00002
|
NM_001999.4(FBN2):c.1849+8A>G
|
rs747219934
|
0.00002
|
NM_001999.4(FBN2):c.1961G>A (p.Arg654His)
|
rs780589159
|
0.00002
|
NM_001999.4(FBN2):c.2036C>T (p.Ser679Phe)
|
rs760483684
|
0.00002
|
NM_001999.4(FBN2):c.3092C>T (p.Ala1031Val)
|
rs754884110
|
0.00002
|
NM_001999.4(FBN2):c.3404C>T (p.Pro1135Leu)
|
rs772041342
|
0.00002
|
NM_001999.4(FBN2):c.362A>G (p.Asp121Gly)
|
rs770483769
|
0.00002
|
NM_001999.4(FBN2):c.5045A>C (p.Tyr1682Ser)
|
rs769474473
|
0.00002
|
NM_001999.4(FBN2):c.5819G>A (p.Arg1940Gln)
|
rs749907917
|
0.00002
|
NM_001999.4(FBN2):c.672G>T (p.Met224Ile)
|
rs371292311
|
0.00002
|
NM_001999.4(FBN2):c.6881-5T>G
|
rs772186151
|
0.00002
|
NM_001999.4(FBN2):c.6989G>A (p.Arg2330Lys)
|
rs886038992
|
0.00002
|
NM_001999.4(FBN2):c.7496C>T (p.Pro2499Leu)
|
rs199583859
|
0.00002
|
NM_001999.4(FBN2):c.7511A>G (p.Tyr2504Cys)
|
rs764032053
|
0.00002
|
NM_001999.4(FBN2):c.7660T>G (p.Phe2554Val)
|
rs775848753
|
0.00002
|
NM_001999.4(FBN2):c.785G>A (p.Arg262Gln)
|
rs763997393
|
0.00002
|
NM_001999.4(FBN2):c.811A>C (p.Thr271Pro)
|
rs201988564
|
0.00002
|
NM_001999.4(FBN2):c.8498G>A (p.Arg2833His)
|
rs753753954
|
0.00002
|
NM_002317.7(LOX):c.135G>T (p.Gln45His)
|
rs577482351
|
0.00002
|
NM_002474.3(MYH11):c.1037T>C (p.Ile346Thr)
|
rs794728675
|
0.00002
|
NM_002474.3(MYH11):c.1178C>T (p.Thr393Ile)
|
rs750691973
|
0.00002
|
NM_002474.3(MYH11):c.1300C>T (p.Arg434Cys)
|
rs375276152
|
0.00002
|
NM_002474.3(MYH11):c.1749+3A>G
|
rs762212339
|
0.00002
|
NM_002474.3(MYH11):c.1879G>A (p.Gly627Ser)
|
rs563865467
|
0.00002
|
NM_002474.3(MYH11):c.200A>G (p.Lys67Arg)
|
rs777426396
|
0.00002
|
NM_002474.3(MYH11):c.2062G>A (p.Gly688Ser)
|
rs760793367
|
0.00002
|
NM_002474.3(MYH11):c.2139G>C (p.Gln713His)
|
rs779897931
|
0.00002
|
NM_002474.3(MYH11):c.2198C>T (p.Ala733Val)
|
rs776356937
|
0.00002
|
NM_002474.3(MYH11):c.2443G>A (p.Ala815Thr)
|
rs774279707
|
0.00002
|
NM_002474.3(MYH11):c.2599C>T (p.Arg867Trp)
|
rs745429737
|
0.00002
|
NM_002474.3(MYH11):c.3125G>A (p.Arg1042Gln)
|
rs771297865
|
0.00002
|
NM_002474.3(MYH11):c.3149G>A (p.Arg1050Gln)
|
rs367605434
|
0.00002
|
NM_002474.3(MYH11):c.3214G>A (p.Ala1072Thr)
|
rs759155353
|
0.00002
|
NM_002474.3(MYH11):c.3262A>G (p.Lys1088Glu)
|
rs375643160
|
0.00002
|
NM_002474.3(MYH11):c.3281C>T (p.Ala1094Val)
|
rs534384552
|
0.00002
|
NM_002474.3(MYH11):c.3326C>A (p.Ala1109Asp)
|
rs1046453819
|
0.00002
|
NM_002474.3(MYH11):c.3340C>T (p.Arg1114Trp)
|
rs202004234
|
0.00002
|
NM_002474.3(MYH11):c.4007C>T (p.Thr1336Met)
|
rs771330136
|
0.00002
|
NM_002474.3(MYH11):c.4011G>C (p.Lys1337Asn)
|
rs778284314
|
0.00002
|
NM_002474.3(MYH11):c.4016G>A (p.Arg1339His)
|
rs374271463
|
0.00002
|
NM_002474.3(MYH11):c.4123G>A (p.Asp1375Asn)
|
rs143467011
|
0.00002
|
NM_002474.3(MYH11):c.4159G>A (p.Val1387Met)
|
rs773946923
|
0.00002
|
NM_002474.3(MYH11):c.415G>A (p.Val139Ile)
|
rs745609580
|
0.00002
|
NM_002474.3(MYH11):c.4717A>G (p.Lys1573Glu)
|
rs151101824
|
0.00002
|
NM_002474.3(MYH11):c.4798G>A (p.Glu1600Lys)
|
rs761463510
|
0.00002
|
NM_002474.3(MYH11):c.4834C>T (p.Arg1612Cys)
|
rs748356212
|
0.00002
|
NM_002474.3(MYH11):c.487C>T (p.Arg163Trp)
|
rs759409339
|
0.00002
|
NM_002474.3(MYH11):c.4942C>T (p.Arg1648Cys)
|
rs369409348
|
0.00002
|
NM_002474.3(MYH11):c.4993C>T (p.Arg1665Cys)
|
rs768569707
|
0.00002
|
NM_002474.3(MYH11):c.506G>A (p.Arg169Gln)
|
rs539539812
|
0.00002
|
NM_002474.3(MYH11):c.5128A>G (p.Lys1710Glu)
|
rs566447086
|
0.00002
|
NM_002474.3(MYH11):c.5161C>A (p.Leu1721Met)
|
rs571517980
|
0.00002
|
NM_002474.3(MYH11):c.5165C>T (p.Ser1722Leu)
|
rs756025504
|
0.00002
|
NM_002474.3(MYH11):c.5256G>A (p.Met1752Ile)
|
rs777832499
|
0.00002
|
NM_002474.3(MYH11):c.5260G>A (p.Ala1754Thr)
|
rs1402732324
|
0.00002
|
NM_002474.3(MYH11):c.5375G>A (p.Arg1792Gln)
|
rs751495086
|
0.00002
|
NM_002474.3(MYH11):c.5443A>G (p.Thr1815Ala)
|
rs764219360
|
0.00002
|
NM_002474.3(MYH11):c.5584C>T (p.Arg1862Cys)
|
rs757542362
|
0.00002
|
NM_002474.3(MYH11):c.5614G>A (p.Ala1872Thr)
|
rs1355377006
|
0.00002
|
NM_002474.3(MYH11):c.5714G>A (p.Arg1905Gln)
|
rs1443593366
|
0.00002
|
NM_002474.3(MYH11):c.5758G>A (p.Glu1920Lys)
|
rs757099566
|
0.00002
|
NM_002474.3(MYH11):c.5772C>G (p.Leu1924=)
|
rs774511118
|
0.00002
|
NM_002474.3(MYH11):c.5789G>A (p.Arg1930Gln)
|
rs769356338
|
0.00002
|
NM_002474.3(MYH11):c.5823G>A (p.Arg1941=)
|
rs764375446
|
0.00002
|
NM_002474.3(MYH11):c.5C>T (p.Ala2Val)
|
rs150600829
|
0.00002
|
NM_002474.3(MYH11):c.632C>T (p.Thr211Met)
|
rs557865832
|
0.00002
|
NM_002474.3(MYH11):c.988G>A (p.Val330Met)
|
rs368938309
|
0.00002
|
NM_003036.4(SKI):c.1034C>T (p.Ala345Val)
|
rs201599402
|
0.00002
|
NM_003036.4(SKI):c.1069C>T (p.Arg357Trp)
|
rs370418830
|
0.00002
|
NM_003036.4(SKI):c.1118G>A (p.Arg373His)
|
rs768924434
|
0.00002
|
NM_003036.4(SKI):c.1264G>A (p.Ala422Thr)
|
rs760579911
|
0.00002
|
NM_003036.4(SKI):c.1268C>T (p.Pro423Leu)
|
rs752779978
|
0.00002
|
NM_003036.4(SKI):c.1336C>T (p.Leu446Phe)
|
rs1464178129
|
0.00002
|
NM_003036.4(SKI):c.1480T>A (p.Ser494Thr)
|
rs781304969
|
0.00002
|
NM_003036.4(SKI):c.1654G>A (p.Gly552Ser)
|
rs1010245755
|
0.00002
|
NM_003036.4(SKI):c.190G>A (p.Val64Met)
|
rs754036418
|
0.00002
|
NM_003036.4(SKI):c.625C>A (p.Leu209Met)
|
rs771298442
|
0.00002
|
NM_003036.4(SKI):c.938A>G (p.Tyr313Cys)
|
rs767730615
|
0.00002
|
NM_003238.6(TGFB2):c.1186A>C (p.Lys396Gln)
|
rs751650226
|
0.00002
|
NM_003238.6(TGFB2):c.644-5T>C
|
rs587782978
|
0.00002
|
NM_003239.5(TGFB3):c.324C>T (p.Phe108=)
|
rs779502039
|
0.00002
|
NM_003239.5(TGFB3):c.488G>A (p.Arg163Gln)
|
rs920721092
|
0.00002
|
NM_003242.6(TGFBR2):c.1042C>T (p.Arg348Cys)
|
rs144701411
|
0.00002
|
NM_003242.6(TGFBR2):c.1043G>A (p.Arg348His)
|
rs369450067
|
0.00002
|
NM_003242.6(TGFBR2):c.1063G>A (p.Ala355Thr)
|
rs104893813
|
0.00002
|
NM_003242.6(TGFBR2):c.1459A>C (p.Met487Leu)
|
rs767120937
|
0.00002
|
NM_003242.6(TGFBR2):c.277G>A (p.Glu93Lys)
|
rs766473954
|
0.00002
|
NM_004612.4(TGFBR1):c.*3482C>G
|
rs201952588
|
0.00002
|
NM_004612.4(TGFBR1):c.*4147G>A
|
rs570685518
|
0.00002
|
NM_004612.4(TGFBR1):c.199C>T (p.His67Tyr)
|
rs766157497
|
0.00002
|
NM_004612.4(TGFBR1):c.292A>T (p.Thr98Ser)
|
rs780295872
|
0.00002
|
NM_004612.4(TGFBR1):c.343+3A>G
|
rs374717754
|
0.00002
|
NM_004612.4(TGFBR1):c.503G>A (p.Arg168His)
|
rs777965779
|
0.00002
|
NM_004612.4(TGFBR1):c.613A>G (p.Ile205Val)
|
rs200018073
|
0.00002
|
NM_004612.4(TGFBR1):c.71C>T (p.Ala24Val)
|
rs992252059
|
0.00002
|
NM_005120.3(MED12):c.1132G>A (p.Val378Ile)
|
rs779969587
|
0.00002
|
NM_005120.3(MED12):c.1994C>G (p.Ser665Cys)
|
rs764981858
|
0.00002
|
NM_005120.3(MED12):c.3796C>T (p.Arg1266Cys)
|
rs1060502168
|
0.00002
|
NM_005120.3(MED12):c.5476C>T (p.Pro1826Ser)
|
rs867576281
|
0.00002
|
NM_005120.3(MED12):c.5585G>A (p.Arg1862His)
|
rs773713291
|
0.00002
|
NM_005120.3(MED12):c.5653G>A (p.Val1885Ile)
|
rs762659794
|
0.00002
|
NM_005902.4(SMAD3):c.-1C>T
|
rs770457783
|
0.00002
|
NM_005902.4(SMAD3):c.1145C>T (p.Ala382Val)
|
rs779602560
|
0.00002
|
NM_005902.4(SMAD3):c.334G>A (p.Ala112Thr)
|
rs770798158
|
0.00002
|
NM_005902.4(SMAD3):c.400+5G>T
|
rs766829176
|
0.00002
|
NM_005902.4(SMAD3):c.665A>G (p.Gln222Arg)
|
rs755924969
|
0.00002
|
NM_005902.4(SMAD3):c.730G>A (p.Val244Ile)
|
rs773543026
|
0.00002
|
NM_005911.6(MAT2A):c.32C>T (p.Ala11Val)
|
rs139547506
|
0.00002
|
NM_006258.4(PRKG1):c.299C>G (p.Pro100Arg)
|
rs763629518
|
0.00002
|
NM_006258.4(PRKG1):c.470T>C (p.Val157Ala)
|
rs774143507
|
0.00002
|
NM_006258.4(PRKG1):c.478+4C>T
|
rs753168304
|
0.00002
|
NM_006258.4(PRKG1):c.622G>A (p.Asp208Asn)
|
rs760798881
|
0.00002
|
NM_006258.4(PRKG1):c.869G>C (p.Ser290Thr)
|
rs756427024
|
0.00002
|
NM_017617.5(NOTCH1):c.1250C>T (p.Ser417Leu)
|
rs757631575
|
0.00002
|
NM_017617.5(NOTCH1):c.1441+8G>A
|
rs765031085
|
0.00002
|
NM_017617.5(NOTCH1):c.148G>A (p.Gly50Arg)
|
rs776758626
|
0.00002
|
NM_017617.5(NOTCH1):c.2068G>A (p.Gly690Arg)
|
rs764112977
|
0.00002
|
NM_017617.5(NOTCH1):c.2297G>T (p.Gly766Val)
|
rs374434131
|
0.00002
|
NM_017617.5(NOTCH1):c.2441A>G (p.Lys814Arg)
|
rs747529236
|
0.00002
|
NM_017617.5(NOTCH1):c.2812C>T (p.Arg938Trp)
|
rs554142958
|
0.00002
|
NM_017617.5(NOTCH1):c.2903C>T (p.Thr968Met)
|
rs781201059
|
0.00002
|
NM_017617.5(NOTCH1):c.2917G>A (p.Ala973Thr)
|
rs200699541
|
0.00002
|
NM_017617.5(NOTCH1):c.3286G>A (p.Val1096Met)
|
rs369730402
|
0.00002
|
NM_017617.5(NOTCH1):c.334C>T (p.Arg112Cys)
|
rs1399392600
|
0.00002
|
NM_017617.5(NOTCH1):c.3679C>T (p.Pro1227Ser)
|
rs777652834
|
0.00002
|
NM_017617.5(NOTCH1):c.3701G>A (p.Arg1234Gln)
|
rs773926521
|
0.00002
|
NM_017617.5(NOTCH1):c.3741G>C (p.Gln1247His)
|
rs781658171
|
0.00002
|
NM_017617.5(NOTCH1):c.4348G>A (p.Glu1450Lys)
|
rs147841035
|
0.00002
|
NM_017617.5(NOTCH1):c.5023A>G (p.Ile1675Val)
|
rs375408767
|
0.00002
|
NM_017617.5(NOTCH1):c.5050C>A (p.Gln1684Lys)
|
rs1843029493
|
0.00002
|
NM_017617.5(NOTCH1):c.5398G>A (p.Ala1800Thr)
|
rs569203312
|
0.00002
|
NM_017617.5(NOTCH1):c.5934+8G>A
|
rs747822127
|
0.00002
|
NM_017617.5(NOTCH1):c.6229G>A (p.Ala2077Thr)
|
rs759749364
|
0.00002
|
NM_017617.5(NOTCH1):c.6365C>T (p.Pro2122Leu)
|
rs767587816
|
0.00002
|
NM_017617.5(NOTCH1):c.6749C>T (p.Ala2250Val)
|
rs777809068
|
0.00002
|
NM_017617.5(NOTCH1):c.6814C>T (p.Arg2272Cys)
|
rs752505638
|
0.00002
|
NM_017617.5(NOTCH1):c.6979C>T (p.Arg2327Trp)
|
rs751007903
|
0.00002
|
NM_017617.5(NOTCH1):c.775G>A (p.Asp259Asn)
|
rs763187824
|
0.00002
|
NM_017617.5(NOTCH1):c.823G>A (p.Gly275Ser)
|
rs371333249
|
0.00002
|
NM_017668.3(NDE1):c.*1981A>G
|
rs886051756
|
0.00002
|
NM_017668.3(NDE1):c.*2030T>C
|
rs886051757
|
0.00002
|
NM_017668.3(NDE1):c.*344C>T
|
rs886051745
|
0.00002
|
NM_017668.3(NDE1):c.948-6840G>C
|
rs370866058
|
0.00002
|
NM_030777.4(SLC2A10):c.1163G>A (p.Arg388Gln)
|
rs780660981
|
0.00002
|
NM_030777.4(SLC2A10):c.1616C>T (p.Ala539Val)
|
rs140312420
|
0.00002
|
NM_030777.4(SLC2A10):c.416A>G (p.Tyr139Cys)
|
rs139858464
|
0.00002
|
NM_030777.4(SLC2A10):c.876C>A (p.Asp292Glu)
|
rs777604168
|
0.00002
|
NM_053025.4(MYLK):c.2009A>T (p.His670Leu)
|
rs1057524740
|
0.00002
|
NM_053025.4(MYLK):c.2086G>A (p.Glu696Lys)
|
rs769548990
|
0.00002
|
NM_053025.4(MYLK):c.2254G>A (p.Val752Met)
|
rs144740858
|
0.00002
|
NM_053025.4(MYLK):c.2407T>C (p.Cys803Arg)
|
rs1373697705
|
0.00002
|
NM_053025.4(MYLK):c.2596G>A (p.Gly866Ser)
|
rs587782966
|
0.00002
|
NM_053025.4(MYLK):c.2605G>A (p.Val869Met)
|
rs749162097
|
0.00002
|
NM_053025.4(MYLK):c.304G>C (p.Gly102Arg)
|
rs1345796517
|
0.00002
|
NM_053025.4(MYLK):c.3062G>C (p.Gly1021Ala)
|
rs200041144
|
0.00002
|
NM_053025.4(MYLK):c.3127C>G (p.Pro1043Ala)
|
rs777200220
|
0.00002
|
NM_053025.4(MYLK):c.3211G>A (p.Val1071Ile)
|
rs752986671
|
0.00002
|
NM_053025.4(MYLK):c.3403G>A (p.Gly1135Arg)
|
rs777923531
|
0.00002
|
NM_053025.4(MYLK):c.3577A>C (p.Ser1193Arg)
|
rs759317891
|
0.00002
|
NM_053025.4(MYLK):c.3611G>A (p.Arg1204Gln)
|
rs142421063
|
0.00002
|
NM_053025.4(MYLK):c.3615G>T (p.Arg1205Ser)
|
rs1026157995
|
0.00002
|
NM_053025.4(MYLK):c.4079G>A (p.Gly1360Asp)
|
rs587782967
|
0.00002
|
NM_053025.4(MYLK):c.4154G>A (p.Arg1385His)
|
rs762795374
|
0.00002
|
NM_053025.4(MYLK):c.4213C>T (p.Arg1405Cys)
|
rs755248772
|
0.00002
|
NM_053025.4(MYLK):c.4416-8A>T
|
rs199790673
|
0.00002
|
NM_053025.4(MYLK):c.4540A>G (p.Asn1514Asp)
|
rs2059054614
|
0.00002
|
NM_053025.4(MYLK):c.4603G>A (p.Val1535Ile)
|
rs776503378
|
0.00002
|
NM_053025.4(MYLK):c.4709C>T (p.Ser1570Leu)
|
rs747368032
|
0.00002
|
NM_053025.4(MYLK):c.5044G>A (p.Asp1682Asn)
|
rs140456660
|
0.00002
|
NM_053025.4(MYLK):c.524G>T (p.Gly175Val)
|
rs375456836
|
0.00002
|
NM_053025.4(MYLK):c.5329C>T (p.Pro1777Ser)
|
rs748200926
|
0.00002
|
NM_053025.4(MYLK):c.5545A>G (p.Ile1849Val)
|
rs1177273925
|
0.00002
|
NM_053025.4(MYLK):c.5557C>T (p.Arg1853Cys)
|
rs138364346
|
0.00002
|
NM_053025.4(MYLK):c.648G>T (p.Gln216His)
|
rs753350784
|
0.00002
|
NM_053025.4(MYLK):c.914C>T (p.Ser305Phe)
|
rs1431655501
|
0.00002
|
NM_000071.3(CBS):c.1081G>A (p.Ala361Thr)
|
rs745764562
|
0.00001
|
NM_000071.3(CBS):c.1262C>A (p.Ala421Asp)
|
rs886039021
|
0.00001
|
NM_000071.3(CBS):c.1325G>A (p.Gly442Asp)
|
rs1324151005
|
0.00001
|
NM_000071.3(CBS):c.1397C>T (p.Ser466Leu)
|
rs121964971
|
0.00001
|
NM_000071.3(CBS):c.210-3C>T
|
rs562656023
|
0.00001
|
NM_000071.3(CBS):c.463G>A (p.Ala155Thr)
|
rs1429138569
|
0.00001
|
NM_000071.3(CBS):c.548C>T (p.Ala183Val)
|
rs374464810
|
0.00001
|
NM_000071.3(CBS):c.736+4C>T
|
rs756191746
|
0.00001
|
NM_000071.3(CBS):c.736+5G>A
|
rs750518463
|
0.00001
|
NM_000071.3(CBS):c.79_81dup (p.Ser27dup)
|
rs754535608
|
0.00001
|
NM_000090.4(COL3A1):c.-10A>G
|
rs41272793
|
0.00001
|
NM_000090.4(COL3A1):c.101A>G (p.His34Arg)
|
rs752110396
|
0.00001
|
NM_000090.4(COL3A1):c.1109A>G (p.Glu370Gly)
|
rs748323501
|
0.00001
|
NM_000090.4(COL3A1):c.1129G>A (p.Ala377Thr)
|
rs1248348633
|
0.00001
|
NM_000090.4(COL3A1):c.1149+3A>G
|
rs1466133249
|
0.00001
|
NM_000090.4(COL3A1):c.1189G>A (p.Glu397Lys)
|
rs187907868
|
0.00001
|
NM_000090.4(COL3A1):c.118G>A (p.Ala40Thr)
|
rs763720540
|
0.00001
|
NM_000090.4(COL3A1):c.1201G>A (p.Ala401Thr)
|
rs373858715
|
0.00001
|
NM_000090.4(COL3A1):c.1207A>G (p.Ile403Val)
|
rs1372036761
|
0.00001
|
NM_000090.4(COL3A1):c.121G>T (p.Asp41Tyr)
|
rs794728035
|
0.00001
|
NM_000090.4(COL3A1):c.1307A>G (p.Lys436Arg)
|
rs751471411
|
0.00001
|
NM_000090.4(COL3A1):c.1333C>T (p.Pro445Ser)
|
rs1688260053
|
0.00001
|
NM_000090.4(COL3A1):c.1346G>A (p.Arg449His)
|
rs888082655
|
0.00001
|
NM_000090.4(COL3A1):c.1378G>A (p.Ala460Thr)
|
rs745315358
|
0.00001
|
NM_000090.4(COL3A1):c.13G>A (p.Val5Met)
|
rs1461198652
|
0.00001
|
NM_000090.4(COL3A1):c.1408C>T (p.Pro470Ser)
|
rs748530632
|
0.00001
|
NM_000090.4(COL3A1):c.1444G>C (p.Ala482Pro)
|
rs374532173
|
0.00001
|
NM_000090.4(COL3A1):c.1480G>A (p.Ala494Thr)
|
rs200866608
|
0.00001
|
NM_000090.4(COL3A1):c.1496T>C (p.Ile499Thr)
|
rs1001748912
|
0.00001
|
NM_000090.4(COL3A1):c.1513C>T (p.Pro505Ser)
|
rs776430998
|
0.00001
|
NM_000090.4(COL3A1):c.1558G>A (p.Ala520Thr)
|
rs1410374684
|
0.00001
|
NM_000090.4(COL3A1):c.1609-11C>A
|
rs1474506962
|
0.00001
|
NM_000090.4(COL3A1):c.1642G>A (p.Asp548Asn)
|
rs1293397335
|
0.00001
|
NM_000090.4(COL3A1):c.1657C>T (p.Pro553Ser)
|
rs752163277
|
0.00001
|
NM_000090.4(COL3A1):c.1685G>A (p.Arg562Gln)
|
rs774146040
|
0.00001
|
NM_000090.4(COL3A1):c.1761+6T>C
|
rs189483688
|
0.00001
|
NM_000090.4(COL3A1):c.1777A>G (p.Asn593Asp)
|
rs1435010100
|
0.00001
|
NM_000090.4(COL3A1):c.178G>A (p.Val60Ile)
|
rs762028131
|
0.00001
|
NM_000090.4(COL3A1):c.1801G>A (p.Gly601Arg)
|
rs767889802
|
0.00001
|
NM_000090.4(COL3A1):c.1813C>G (p.Gln605Glu)
|
rs764299277
|
0.00001
|
NM_000090.4(COL3A1):c.1816-6T>G
|
rs1474453319
|
0.00001
|
NM_000090.4(COL3A1):c.1819C>G (p.Pro607Ala)
|
rs376525602
|
0.00001
|
NM_000090.4(COL3A1):c.1864C>T (p.Pro622Ser)
|
rs772638774
|
0.00001
|
NM_000090.4(COL3A1):c.1921C>G (p.Gln641Glu)
|
rs794728048
|
0.00001
|
NM_000090.4(COL3A1):c.194T>C (p.Ile65Thr)
|
rs1050728178
|
0.00001
|
NM_000090.4(COL3A1):c.1972G>A (p.Glu658Lys)
|
rs189846410
|
0.00001
|
NM_000090.4(COL3A1):c.1976C>T (p.Pro659Leu)
|
rs756822808
|
0.00001
|
NM_000090.4(COL3A1):c.198A>G (p.Ile66Met)
|
rs372269408
|
0.00001
|
NM_000090.4(COL3A1):c.203A>G (p.Asp68Gly)
|
rs376603102
|
0.00001
|
NM_000090.4(COL3A1):c.2047C>T (p.Arg683Cys)
|
rs1254414798
|
0.00001
|
NM_000090.4(COL3A1):c.2048G>A (p.Arg683His)
|
rs753162027
|
0.00001
|
NM_000090.4(COL3A1):c.205G>A (p.Asp69Asn)
|
rs112714742
|
0.00001
|
NM_000090.4(COL3A1):c.2220G>A (p.Lys740=)
|
rs541557925
|
0.00001
|
NM_000090.4(COL3A1):c.2351C>T (p.Ala784Val)
|
rs370292679
|
0.00001
|
NM_000090.4(COL3A1):c.2461C>A (p.Pro821Thr)
|
rs1296092212
|
0.00001
|
NM_000090.4(COL3A1):c.2479A>G (p.Arg827Gly)
|
rs1309388302
|
0.00001
|
NM_000090.4(COL3A1):c.2506G>A (p.Gly836Arg)
|
rs1363971558
|
0.00001
|
NM_000090.4(COL3A1):c.2530C>T (p.Pro844Ser)
|
rs780490668
|
0.00001
|
NM_000090.4(COL3A1):c.2531C>T (p.Pro844Leu)
|
rs943287668
|
0.00001
|
NM_000090.4(COL3A1):c.2665A>T (p.Asn889Tyr)
|
rs761469859
|
0.00001
|
NM_000090.4(COL3A1):c.2678C>T (p.Pro893Leu)
|
rs1455100373
|
0.00001
|
NM_000090.4(COL3A1):c.2773G>A (p.Asp925Asn)
|
rs929526823
|
0.00001
|
NM_000090.4(COL3A1):c.280G>T (p.Ala94Ser)
|
rs761447734
|
0.00001
|
NM_000090.4(COL3A1):c.284C>T (p.Pro95Leu)
|
rs780260944
|
0.00001
|
NM_000090.4(COL3A1):c.2974C>A (p.Arg992Ser)
|
rs1431359737
|
0.00001
|
NM_000090.4(COL3A1):c.2980C>G (p.Pro994Ala)
|
rs142457159
|
0.00001
|
NM_000090.4(COL3A1):c.3071G>A (p.Arg1024Gln)
|
rs1484867480
|
0.00001
|
NM_000090.4(COL3A1):c.3098A>T (p.Asp1033Val)
|
rs1060500206
|
0.00001
|
NM_000090.4(COL3A1):c.3101G>A (p.Arg1034His)
|
rs780788248
|
0.00001
|
NM_000090.4(COL3A1):c.3163G>A (p.Val1055Ile)
|
rs747197616
|
0.00001
|
NM_000090.4(COL3A1):c.316G>A (p.Gly106Ser)
|
rs180938313
|
0.00001
|
NM_000090.4(COL3A1):c.3208G>T (p.Ala1070Ser)
|
rs376738516
|
0.00001
|
NM_000090.4(COL3A1):c.3224C>T (p.Ala1075Val)
|
rs952989325
|
0.00001
|
NM_000090.4(COL3A1):c.3262C>G (p.Gln1088Glu)
|
rs1328301317
|
0.00001
|
NM_000090.4(COL3A1):c.3271C>A (p.Arg1091Ser)
|
rs1464447467
|
0.00001
|
NM_000090.4(COL3A1):c.3344C>G (p.Pro1115Arg)
|
rs1688622334
|
0.00001
|
NM_000090.4(COL3A1):c.3430C>T (p.Pro1144Ser)
|
rs748793822
|
0.00001
|
NM_000090.4(COL3A1):c.3440C>T (p.Pro1147Leu)
|
rs889877870
|
0.00001
|
NM_000090.4(COL3A1):c.3478A>T (p.Ile1160Phe)
|
rs1688636735
|
0.00001
|
NM_000090.4(COL3A1):c.3526-10C>T
|
rs376171095
|
0.00001
|
NM_000090.4(COL3A1):c.3566C>T (p.Pro1189Leu)
|
rs752598062
|
0.00001
|
NM_000090.4(COL3A1):c.3593G>A (p.Gly1198Asp)
|
rs756858564
|
0.00001
|
NM_000090.4(COL3A1):c.3626G>C (p.Gly1209Ala)
|
rs374452484
|
0.00001
|
NM_000090.4(COL3A1):c.3643G>A (p.Gly1215Ser)
|
rs767577382
|
0.00001
|
NM_000090.4(COL3A1):c.3745A>G (p.Ile1249Val)
|
rs779018915
|
0.00001
|
NM_000090.4(COL3A1):c.3793C>A (p.Leu1265Met)
|
rs200052168
|
0.00001
|
NM_000090.4(COL3A1):c.3808C>A (p.Pro1270Thr)
|
rs756724842
|
0.00001
|
NM_000090.4(COL3A1):c.3821G>A (p.Ser1274Asn)
|
rs1688666675
|
0.00001
|
NM_000090.4(COL3A1):c.3824-11T>G
|
rs766096022
|
0.00001
|
NM_000090.4(COL3A1):c.3845A>G (p.Asn1282Ser)
|
rs1483989815
|
0.00001
|
NM_000090.4(COL3A1):c.3935G>A (p.Arg1312Gln)
|
rs772919524
|
0.00001
|
NM_000090.4(COL3A1):c.3964G>A (p.Glu1322Lys)
|
rs149522780
|
0.00001
|
NM_000090.4(COL3A1):c.4003G>A (p.Gly1335Ser)
|
rs751807135
|
0.00001
|
NM_000090.4(COL3A1):c.4025A>G (p.Asn1342Ser)
|
rs752777683
|
0.00001
|
NM_000090.4(COL3A1):c.40G>A (p.Ala14Thr)
|
rs547373542
|
0.00001
|
NM_000090.4(COL3A1):c.40G>T (p.Ala14Ser)
|
rs547373542
|
0.00001
|
NM_000090.4(COL3A1):c.4100A>G (p.Asn1367Ser)
|
rs746580509
|
0.00001
|
NM_000090.4(COL3A1):c.4118A>G (p.Lys1373Arg)
|
rs775951025
|
0.00001
|
NM_000090.4(COL3A1):c.4165G>T (p.Ala1389Ser)
|
rs202022204
|
0.00001
|
NM_000090.4(COL3A1):c.41C>G (p.Ala14Gly)
|
rs1231364424
|
0.00001
|
NM_000090.4(COL3A1):c.4220A>C (p.Lys1407Thr)
|
rs747651283
|
0.00001
|
NM_000090.4(COL3A1):c.4253C>T (p.Thr1418Met)
|
rs1012915558
|
0.00001
|
NM_000090.4(COL3A1):c.4254+3A>G
|
rs376799861
|
0.00001
|
NM_000090.4(COL3A1):c.4276A>G (p.Lys1426Glu)
|
rs908421014
|
0.00001
|
NM_000090.4(COL3A1):c.4295G>T (p.Arg1432Leu)
|
rs772428340
|
0.00001
|
NM_000090.4(COL3A1):c.4300C>T (p.Arg1434Cys)
|
rs747324731
|
0.00001
|
NM_000090.4(COL3A1):c.4340A>G (p.Tyr1447Cys)
|
rs1407784923
|
0.00001
|
NM_000090.4(COL3A1):c.4357G>A (p.Asp1453Asn)
|
rs1131691353
|
0.00001
|
NM_000090.4(COL3A1):c.4372G>A (p.Val1458Met)
|
rs751427069
|
0.00001
|
NM_000090.4(COL3A1):c.4394T>G (p.Phe1465Cys)
|
rs1553510018
|
0.00001
|
NM_000090.4(COL3A1):c.464A>G (p.Tyr155Cys)
|
rs1160176510
|
0.00001
|
NM_000090.4(COL3A1):c.497T>A (p.Val166Glu)
|
rs1016172772
|
0.00001
|
NM_000090.4(COL3A1):c.50A>T (p.His17Leu)
|
rs1311785540
|
0.00001
|
NM_000090.4(COL3A1):c.578C>T (p.Ser193Phe)
|
rs374532486
|
0.00001
|
NM_000090.4(COL3A1):c.586T>C (p.Ser196Pro)
|
rs751350498
|
0.00001
|
NM_000090.4(COL3A1):c.667C>T (p.Pro223Ser)
|
rs1325737333
|
0.00001
|
NM_000090.4(COL3A1):c.706C>T (p.Pro236Ser)
|
rs771858477
|
0.00001
|
NM_000090.4(COL3A1):c.713G>A (p.Arg238Gln)
|
rs760324242
|
0.00001
|
NM_000090.4(COL3A1):c.725G>A (p.Arg242Gln)
|
rs372025063
|
0.00001
|
NM_000090.4(COL3A1):c.752A>G (p.Lys251Arg)
|
rs151148197
|
0.00001
|
NM_000090.4(COL3A1):c.776T>C (p.Phe259Ser)
|
rs1688161034
|
0.00001
|
NM_000090.4(COL3A1):c.785T>C (p.Met262Thr)
|
rs772713162
|
0.00001
|
NM_000090.4(COL3A1):c.803T>C (p.Phe268Ser)
|
rs1318892403
|
0.00001
|
NM_000090.4(COL3A1):c.816T>G (p.Asn272Lys)
|
rs776111781
|
0.00001
|
NM_000090.4(COL3A1):c.884C>T (p.Ala295Val)
|
rs1016767830
|
0.00001
|
NM_000090.4(COL3A1):c.897+4A>G
|
rs886039191
|
0.00001
|
NM_000093.5(COL5A1):c.1021G>A (p.Val341Met)
|
rs756703956
|
0.00001
|
NM_000093.5(COL5A1):c.1175C>T (p.Pro392Leu)
|
rs1290737803
|
0.00001
|
NM_000093.5(COL5A1):c.1332+4dup
|
rs886063674
|
0.00001
|
NM_000093.5(COL5A1):c.1430C>T (p.Ala477Val)
|
rs763650548
|
0.00001
|
NM_000093.5(COL5A1):c.1561A>G (p.Met521Val)
|
rs535161301
|
0.00001
|
NM_000093.5(COL5A1):c.1805C>T (p.Pro602Leu)
|
rs749007253
|
0.00001
|
NM_000093.5(COL5A1):c.1828-3C>G
|
rs369608154
|
0.00001
|
NM_000093.5(COL5A1):c.1900G>A (p.Gly634Ser)
|
rs183627101
|
0.00001
|
NM_000093.5(COL5A1):c.2002G>A (p.Glu668Lys)
|
rs764603796
|
0.00001
|
NM_000093.5(COL5A1):c.2269G>A (p.Gly757Ser)
|
rs1464394247
|
0.00001
|
NM_000093.5(COL5A1):c.2543G>A (p.Arg848His)
|
rs767925708
|
0.00001
|
NM_000093.5(COL5A1):c.289C>T (p.Pro97Ser)
|
rs1189111524
|
0.00001
|
NM_000093.5(COL5A1):c.295G>T (p.Asp99Tyr)
|
rs774095835
|
0.00001
|
NM_000093.5(COL5A1):c.2971G>A (p.Gly991Ser)
|
rs777368013
|
0.00001
|
NM_000093.5(COL5A1):c.3112A>G (p.Lys1038Glu)
|
rs766852875
|
0.00001
|
NM_000093.5(COL5A1):c.3341G>C (p.Gly1114Ala)
|
rs926426117
|
0.00001
|
NM_000093.5(COL5A1):c.3361G>C (p.Ala1121Pro)
|
rs863223449
|
0.00001
|
NM_000093.5(COL5A1):c.3595G>A (p.Glu1199Lys)
|
rs867211079
|
0.00001
|
NM_000093.5(COL5A1):c.3812C>T (p.Pro1271Leu)
|
rs771146636
|
0.00001
|
NM_000093.5(COL5A1):c.3868G>A (p.Ala1290Thr)
|
rs863223451
|
0.00001
|
NM_000093.5(COL5A1):c.3947C>G (p.Pro1316Arg)
|
rs371550819
|
0.00001
|
NM_000093.5(COL5A1):c.406C>T (p.Pro136Ser)
|
rs777625241
|
0.00001
|
NM_000093.5(COL5A1):c.4234G>A (p.Glu1412Lys)
|
rs376893441
|
0.00001
|
NM_000093.5(COL5A1):c.4267G>A (p.Gly1423Ser)
|
rs370151534
|
0.00001
|
NM_000093.5(COL5A1):c.4351C>G (p.Leu1451Val)
|
rs369740453
|
0.00001
|
NM_000093.5(COL5A1):c.4534T>G (p.Ser1512Ala)
|
rs1008518818
|
0.00001
|
NM_000093.5(COL5A1):c.4554+3G>A
|
rs370976850
|
0.00001
|
NM_000093.5(COL5A1):c.4554+5G>A
|
rs375489070
|
0.00001
|
NM_000093.5(COL5A1):c.4613C>T (p.Pro1538Leu)
|
rs775335297
|
0.00001
|
NM_000093.5(COL5A1):c.4765G>A (p.Ala1589Thr)
|
rs377138881
|
0.00001
|
NM_000093.5(COL5A1):c.4783G>A (p.Asp1595Asn)
|
rs748610273
|
0.00001
|
NM_000093.5(COL5A1):c.487G>A (p.Gly163Ser)
|
rs764543567
|
0.00001
|
NM_000093.5(COL5A1):c.4928A>G (p.Gln1643Arg)
|
rs730880064
|
0.00001
|
NM_000093.5(COL5A1):c.4934G>A (p.Cys1645Tyr)
|
rs863223461
|
0.00001
|
NM_000093.5(COL5A1):c.4943A>G (p.Asp1648Gly)
|
rs746071518
|
0.00001
|
NM_000093.5(COL5A1):c.628C>T (p.Arg210Trp)
|
rs1490728700
|
0.00001
|
NM_000093.5(COL5A1):c.82C>A (p.Leu28Met)
|
rs1312200383
|
0.00001
|
NM_000138.4(FBN1):c.-319G>T
|
rs886051256
|
0.00001
|
NM_000138.5(FBN1):c.*202_*203del
|
rs766125141
|
0.00001
|
NM_000138.5(FBN1):c.*252G>A
|
rs1407193739
|
0.00001
|
NM_000138.5(FBN1):c.*764G>A
|
rs55717426
|
0.00001
|
NM_000138.5(FBN1):c.*968G>A
|
rs999275120
|
0.00001
|
NM_000138.5(FBN1):c.-6G>T
|
rs1890264028
|
0.00001
|
NM_000138.5(FBN1):c.-7C>T
|
rs752581747
|
0.00001
|
NM_000138.5(FBN1):c.1030C>T (p.Arg344Cys)
|
rs752010116
|
0.00001
|
NM_000138.5(FBN1):c.1031G>A (p.Arg344His)
|
rs200388305
|
0.00001
|
NM_000138.5(FBN1):c.1091G>A (p.Arg364Gln)
|
rs536588176
|
0.00001
|
NM_000138.5(FBN1):c.1108G>T (p.Val370Phe)
|
rs1191931914
|
0.00001
|
NM_000138.5(FBN1):c.1117G>A (p.Ala373Thr)
|
rs766162654
|
0.00001
|
NM_000138.5(FBN1):c.1118C>T (p.Ala373Val)
|
rs762598979
|
0.00001
|
NM_000138.5(FBN1):c.1152T>G (p.Asp384Glu)
|
rs747519215
|
0.00001
|
NM_000138.5(FBN1):c.1169C>T (p.Ser390Phe)
|
rs746385384
|
0.00001
|
NM_000138.5(FBN1):c.1177A>G (p.Met393Val)
|
rs983129867
|
0.00001
|
NM_000138.5(FBN1):c.1216C>G (p.Leu406Val)
|
rs1257581073
|
0.00001
|
NM_000138.5(FBN1):c.1289C>T (p.Pro430Leu)
|
rs771134832
|
0.00001
|
NM_000138.5(FBN1):c.1373A>G (p.Tyr458Cys)
|
rs749133312
|
0.00001
|
NM_000138.5(FBN1):c.1391G>A (p.Arg464His)
|
rs1166727485
|
0.00001
|
NM_000138.5(FBN1):c.13C>T (p.Arg5Cys)
|
rs759323371
|
0.00001
|
NM_000138.5(FBN1):c.1417C>T (p.Arg473Trp)
|
rs767068276
|
0.00001
|
NM_000138.5(FBN1):c.1454G>T (p.Arg485Leu)
|
rs371985966
|
0.00001
|
NM_000138.5(FBN1):c.1460A>C (p.Glu487Ala)
|
rs763431921
|
0.00001
|
NM_000138.5(FBN1):c.149A>T (p.His50Leu)
|
rs886039132
|
0.00001
|
NM_000138.5(FBN1):c.1529C>T (p.Ser510Leu)
|
rs776942896
|
0.00001
|
NM_000138.5(FBN1):c.1586G>A (p.Arg529Gln)
|
rs1441536824
|
0.00001
|
NM_000138.5(FBN1):c.1603T>A (p.Leu535Ile)
|
rs1485432119
|
0.00001
|
NM_000138.5(FBN1):c.1615C>T (p.Arg539Trp)
|
rs752999845
|
0.00001
|
NM_000138.5(FBN1):c.1639A>G (p.Ile547Val)
|
rs759813328
|
0.00001
|
NM_000138.5(FBN1):c.164+6G>A
|
rs760968439
|
0.00001
|
NM_000138.5(FBN1):c.165-4T>A
|
rs761159501
|
0.00001
|
NM_000138.5(FBN1):c.1676C>T (p.Ala559Val)
|
rs141551765
|
0.00001
|
NM_000138.5(FBN1):c.167C>T (p.Pro56Leu)
|
rs1262119022
|
0.00001
|
NM_000138.5(FBN1):c.1694G>A (p.Arg565Gln)
|
rs763815231
|
0.00001
|
NM_000138.5(FBN1):c.181T>C (p.Ser61Pro)
|
rs1166519673
|
0.00001
|
NM_000138.5(FBN1):c.1825C>T (p.Arg609Cys)
|
rs772574901
|
0.00001
|
NM_000138.5(FBN1):c.1826G>A (p.Arg609His)
|
rs770393471
|
0.00001
|
NM_000138.5(FBN1):c.1837+9T>C
|
rs56102085
|
0.00001
|
NM_000138.5(FBN1):c.1844A>G (p.Asn615Ser)
|
rs397515763
|
0.00001
|
NM_000138.5(FBN1):c.1856C>A (p.Thr619Asn)
|
rs377686210
|
0.00001
|
NM_000138.5(FBN1):c.1858C>T (p.Pro620Ser)
|
rs1220853793
|
0.00001
|
NM_000138.5(FBN1):c.1937G>A (p.Gly646Asp)
|
rs1238689648
|
0.00001
|
NM_000138.5(FBN1):c.1949G>A (p.Arg650His)
|
rs1437690192
|
0.00001
|
NM_000138.5(FBN1):c.1991G>A (p.Gly664Glu)
|
rs1436966674
|
0.00001
|
NM_000138.5(FBN1):c.2090A>G (p.Gln697Arg)
|
rs769708437
|
0.00001
|
NM_000138.5(FBN1):c.2126C>G (p.Ala709Gly)
|
rs794728184
|
0.00001
|
NM_000138.5(FBN1):c.2153C>T (p.Thr718Met)
|
rs777526851
|
0.00001
|
NM_000138.5(FBN1):c.2188G>A (p.Asp730Asn)
|
rs199625633
|
0.00001
|
NM_000138.5(FBN1):c.2208T>G (p.Asn736Lys)
|
rs1450795956
|
0.00001
|
NM_000138.5(FBN1):c.2228G>A (p.Arg743His)
|
rs761942436
|
0.00001
|
NM_000138.5(FBN1):c.2267T>C (p.Val756Ala)
|
rs764101656
|
0.00001
|
NM_000138.5(FBN1):c.2269G>C (p.Asp757His)
|
rs2043616147
|
0.00001
|
NM_000138.5(FBN1):c.2381A>C (p.Lys794Thr)
|
rs375366432
|
0.00001
|
NM_000138.5(FBN1):c.2393A>G (p.Tyr798Cys)
|
rs1064793112
|
0.00001
|
NM_000138.5(FBN1):c.2449A>G (p.Ile817Val)
|
rs965020667
|
0.00001
|
NM_000138.5(FBN1):c.247+3A>G
|
rs201854371
|
0.00001
|
NM_000138.5(FBN1):c.2531T>C (p.Ile844Thr)
|
rs751564716
|
0.00001
|
NM_000138.5(FBN1):c.2683A>G (p.Ile895Val)
|
rs772308703
|
0.00001
|
NM_000138.5(FBN1):c.2684T>C (p.Ile895Thr)
|
rs1488064078
|
0.00001
|
NM_000138.5(FBN1):c.2711A>G (p.Lys904Arg)
|
rs778951277
|
0.00001
|
NM_000138.5(FBN1):c.2768A>G (p.Asn923Ser)
|
rs1220842179
|
0.00001
|
NM_000138.5(FBN1):c.2771G>T (p.Gly924Val)
|
rs1206476337
|
0.00001
|
NM_000138.5(FBN1):c.2773C>G (p.Leu925Val)
|
rs149681175
|
0.00001
|
NM_000138.5(FBN1):c.284C>T (p.Ser95Leu)
|
rs922684362
|
0.00001
|
NM_000138.5(FBN1):c.2858T>C (p.Ile953Thr)
|
rs1177856657
|
0.00001
|
NM_000138.5(FBN1):c.287G>C (p.Arg96Thr)
|
rs794728291
|
0.00001
|
NM_000138.5(FBN1):c.2902A>T (p.Thr968Ser)
|
rs752117227
|
0.00001
|
NM_000138.5(FBN1):c.2909C>T (p.Pro970Leu)
|
rs751985082
|
0.00001
|
NM_000138.5(FBN1):c.2979C>T (p.Cys993=)
|
rs150126098
|
0.00001
|
NM_000138.5(FBN1):c.3031G>A (p.Gly1011Arg)
|
rs1267721327
|
0.00001
|
NM_000138.5(FBN1):c.3043G>A (p.Ala1015Thr)
|
rs55831697
|
0.00001
|
NM_000138.5(FBN1):c.3089A>G (p.Asn1030Ser)
|
rs375996640
|
0.00001
|
NM_000138.5(FBN1):c.3128A>G (p.Lys1043Arg)
|
rs137854472
|
0.00001
|
NM_000138.5(FBN1):c.3184G>A (p.Asp1062Asn)
|
rs758366498
|
0.00001
|
NM_000138.5(FBN1):c.3209-3C>A
|
rs397515787
|
0.00001
|
NM_000138.5(FBN1):c.3340A>G (p.Ile1114Val)
|
rs1006702602
|
0.00001
|
NM_000138.5(FBN1):c.3368T>A (p.Leu1123Gln)
|
rs201336778
|
0.00001
|
NM_000138.5(FBN1):c.3376G>A (p.Gly1126Ser)
|
rs1437464599
|
0.00001
|
NM_000138.5(FBN1):c.3400G>A (p.Gly1134Arg)
|
rs372404949
|
0.00001
|
NM_000138.5(FBN1):c.3405T>A (p.Ser1135Arg)
|
rs777727844
|
0.00001
|
NM_000138.5(FBN1):c.3409C>T (p.Arg1137Cys)
|
rs1439487763
|
0.00001
|
NM_000138.5(FBN1):c.351A>T (p.Gln117His)
|
rs201083095
|
0.00001
|
NM_000138.5(FBN1):c.353A>G (p.His118Arg)
|
rs765503809
|
0.00001
|
NM_000138.5(FBN1):c.3560A>G (p.His1187Arg)
|
rs193922200
|
0.00001
|
NM_000138.5(FBN1):c.3563C>T (p.Ser1188Leu)
|
rs1057520181
|
0.00001
|
NM_000138.5(FBN1):c.3571G>A (p.Asp1191Asn)
|
rs370121450
|
0.00001
|
NM_000138.5(FBN1):c.3592A>G (p.Ile1198Val)
|
rs370572503
|
0.00001
|
NM_000138.5(FBN1):c.3593T>C (p.Ile1198Thr)
|
rs755375255
|
0.00001
|
NM_000138.5(FBN1):c.365G>A (p.Arg122His)
|
rs1010750845
|
0.00001
|
NM_000138.5(FBN1):c.3674C>T (p.Pro1225Leu)
|
rs775532488
|
0.00001
|
NM_000138.5(FBN1):c.3688A>C (p.Met1230Leu)
|
rs759424465
|
0.00001
|
NM_000138.5(FBN1):c.3689T>C (p.Met1230Thr)
|
rs774003646
|
0.00001
|
NM_000138.5(FBN1):c.3718G>A (p.Asp1240Asn)
|
rs573187346
|
0.00001
|
NM_000138.5(FBN1):c.3740A>T (p.Asn1247Ile)
|
rs568625812
|
0.00001
|
NM_000138.5(FBN1):c.3797A>T (p.Tyr1266Phe)
|
rs200283837
|
0.00001
|
NM_000138.5(FBN1):c.3830C>G (p.Thr1277Ser)
|
rs1372986456
|
0.00001
|
NM_000138.5(FBN1):c.3845A>G (p.Asn1282Ser)
|
rs140647
|
0.00001
|
NM_000138.5(FBN1):c.4012G>A (p.Val1338Ile)
|
rs1416288007
|
0.00001
|
NM_000138.5(FBN1):c.4057G>A (p.Gly1353Arg)
|
rs187177496
|
0.00001
|
NM_000138.5(FBN1):c.4075A>G (p.Ile1359Val)
|
rs202192505
|
0.00001
|
NM_000138.5(FBN1):c.4087+6T>A
|
rs746201265
|
0.00001
|
NM_000138.5(FBN1):c.4106A>G (p.Asn1369Ser)
|
rs370923981
|
0.00001
|
NM_000138.5(FBN1):c.4282C>T (p.Arg1428Cys)
|
rs1258352189
|
0.00001
|
NM_000138.5(FBN1):c.4283G>A (p.Arg1428His)
|
rs778219976
|
0.00001
|
NM_000138.5(FBN1):c.4294G>A (p.Asp1432Asn)
|
rs778145681
|
0.00001
|
NM_000138.5(FBN1):c.4304T>C (p.Phe1435Ser)
|
rs1417057509
|
0.00001
|
NM_000138.5(FBN1):c.4313G>A (p.Ser1438Asn)
|
rs587782945
|
0.00001
|
NM_000138.5(FBN1):c.4328C>T (p.Ala1443Val)
|
rs560230585
|
0.00001
|
NM_000138.5(FBN1):c.4336+11G>A
|
rs886051249
|
0.00001
|
NM_000138.5(FBN1):c.4337-6C>G
|
rs1225924246
|
0.00001
|
NM_000138.5(FBN1):c.442C>T (p.Pro148Ser)
|
rs780624885
|
0.00001
|
NM_000138.5(FBN1):c.4444G>A (p.Gly1482Ser)
|
rs762532435
|
0.00001
|
NM_000138.5(FBN1):c.4492A>G (p.Ile1498Val)
|
rs761187818
|
0.00001
|
NM_000138.5(FBN1):c.451G>C (p.Glu151Gln)
|
rs1180715983
|
0.00001
|
NM_000138.5(FBN1):c.4568G>A (p.Arg1523Gln)
|
rs201546777
|
0.00001
|
NM_000138.5(FBN1):c.4589G>A (p.Arg1530His)
|
rs778710767
|
0.00001
|
NM_000138.5(FBN1):c.4598A>G (p.Asn1533Ser)
|
rs1254024310
|
0.00001
|
NM_000138.5(FBN1):c.4622G>A (p.Arg1541Gln)
|
rs753491504
|
0.00001
|
NM_000138.5(FBN1):c.4636G>T (p.Asp1546Tyr)
|
rs1386298731
|
0.00001
|
NM_000138.5(FBN1):c.46C>T (p.Leu16Phe)
|
rs982368209
|
0.00001
|
NM_000138.5(FBN1):c.4718C>T (p.Pro1573Leu)
|
rs1286993730
|
0.00001
|
NM_000138.5(FBN1):c.4738G>A (p.Val1580Met)
|
rs794728230
|
0.00001
|
NM_000138.5(FBN1):c.473G>A (p.Gly158Glu)
|
rs2044515710
|
0.00001
|
NM_000138.5(FBN1):c.4747T>G (p.Ser1583Ala)
|
rs959567666
|
0.00001
|
NM_000138.5(FBN1):c.4832A>G (p.Gln1611Arg)
|
rs746320943
|
0.00001
|
NM_000138.5(FBN1):c.484G>A (p.Ala162Thr)
|
rs193922210
|
0.00001
|
NM_000138.5(FBN1):c.4894C>T (p.Arg1632Cys)
|
rs544990350
|
0.00001
|
NM_000138.5(FBN1):c.4895G>A (p.Arg1632His)
|
rs756227025
|
0.00001
|
NM_000138.5(FBN1):c.4906G>A (p.Gly1636Ser)
|
rs767451077
|
0.00001
|
NM_000138.5(FBN1):c.4913A>C (p.Tyr1638Ser)
|
rs374520085
|
0.00001
|
NM_000138.5(FBN1):c.4931G>A (p.Arg1644Gln)
|
rs768366890
|
0.00001
|
NM_000138.5(FBN1):c.494G>A (p.Arg165Gln)
|
rs1060501079
|
0.00001
|
NM_000138.5(FBN1):c.5063T>C (p.Met1688Thr)
|
rs771444877
|
0.00001
|
NM_000138.5(FBN1):c.5065+4A>G
|
rs370287674
|
0.00001
|
NM_000138.5(FBN1):c.5065+5G>A
|
rs773660804
|
0.00001
|
NM_000138.5(FBN1):c.5086T>C (p.Tyr1696His)
|
rs373320952
|
0.00001
|
NM_000138.5(FBN1):c.5142G>A (p.Met1714Ile)
|
rs368287795
|
0.00001
|
NM_000138.5(FBN1):c.5293G>A (p.Val1765Ile)
|
rs2043270857
|
0.00001
|
NM_000138.5(FBN1):c.5304T>A (p.Asp1768Glu)
|
rs867058901
|
0.00001
|
NM_000138.5(FBN1):c.5312G>A (p.Arg1771Gln)
|
rs759791896
|
0.00001
|
NM_000138.5(FBN1):c.5347A>T (p.Ile1783Phe)
|
rs1232797551
|
0.00001
|
NM_000138.5(FBN1):c.5441A>G (p.Asn1814Ser)
|
rs775463311
|
0.00001
|
NM_000138.5(FBN1):c.5449G>A (p.Val1817Met)
|
rs757901214
|
0.00001
|
NM_000138.5(FBN1):c.5459G>A (p.Arg1820His)
|
rs1340155407
|
0.00001
|
NM_000138.5(FBN1):c.5464G>A (p.Ala1822Thr)
|
rs777539060
|
0.00001
|
NM_000138.5(FBN1):c.5502C>G (p.Asp1834Glu)
|
rs1566900494
|
0.00001
|
NM_000138.5(FBN1):c.5509C>T (p.Pro1837Ser)
|
rs755430984
|
0.00001
|
NM_000138.5(FBN1):c.5510C>G (p.Pro1837Arg)
|
rs752008146
|
0.00001
|
NM_000138.5(FBN1):c.5546-4A>C
|
rs919423974
|
0.00001
|
NM_000138.5(FBN1):c.5548C>T (p.Arg1850Cys)
|
rs750720912
|
0.00001
|
NM_000138.5(FBN1):c.5549G>A (p.Arg1850His)
|
rs779174265
|
0.00001
|
NM_000138.5(FBN1):c.5582G>A (p.Ser1861Asn)
|
rs766358553
|
0.00001
|
NM_000138.5(FBN1):c.5585A>G (p.His1862Arg)
|
rs976161721
|
0.00001
|
NM_000138.5(FBN1):c.5596A>G (p.Ile1866Val)
|
rs367586350
|
0.00001
|
NM_000138.5(FBN1):c.5603C>T (p.Thr1868Ile)
|
rs145082616
|
0.00001
|
NM_000138.5(FBN1):c.5738A>G (p.Asn1913Ser)
|
rs749606552
|
0.00001
|
NM_000138.5(FBN1):c.5753A>G (p.His1918Arg)
|
rs993464239
|
0.00001
|
NM_000138.5(FBN1):c.5776A>G (p.Asn1926Asp)
|
rs1060501097
|
0.00001
|
NM_000138.5(FBN1):c.5776_5778del (p.Asn1926del)
|
rs886038964
|
0.00001
|
NM_000138.5(FBN1):c.5875A>G (p.Asn1959Asp)
|
rs956702513
|
0.00001
|
NM_000138.5(FBN1):c.5876A>G (p.Asn1959Ser)
|
rs773486280
|
0.00001
|
NM_000138.5(FBN1):c.590G>A (p.Gly197Glu)
|
rs895824095
|
0.00001
|
NM_000138.5(FBN1):c.5977G>A (p.Asp1993Asn)
|
rs377671719
|
0.00001
|
NM_000138.5(FBN1):c.598A>G (p.Ser200Gly)
|
rs1057036462
|
0.00001
|
NM_000138.5(FBN1):c.6001C>T (p.Pro2001Ser)
|
rs921321822
|
0.00001
|
NM_000138.5(FBN1):c.6025G>A (p.Glu2009Lys)
|
rs773204216
|
0.00001
|
NM_000138.5(FBN1):c.6041T>C (p.Ile2014Thr)
|
rs776507208
|
0.00001
|
NM_000138.5(FBN1):c.6110A>G (p.Lys2037Arg)
|
rs556131403
|
0.00001
|
NM_000138.5(FBN1):c.6163+2dup
|
rs794728315
|
0.00001
|
NM_000138.5(FBN1):c.6187G>A (p.Ala2063Thr)
|
rs1316593215
|
0.00001
|
NM_000138.5(FBN1):c.6196G>A (p.Glu2066Lys)
|
rs1219570062
|
0.00001
|
NM_000138.5(FBN1):c.6289G>A (p.Glu2097Lys)
|
rs397515831
|
0.00001
|
NM_000138.5(FBN1):c.6323G>A (p.Arg2108His)
|
rs762659907
|
0.00001
|
NM_000138.5(FBN1):c.6403G>A (p.Asp2135Asn)
|
rs746167150
|
0.00001
|
NM_000138.5(FBN1):c.6416A>G (p.His2139Arg)
|
rs794728248
|
0.00001
|
NM_000138.5(FBN1):c.643C>G (p.Arg215Gly)
|
rs111687884
|
0.00001
|
NM_000138.5(FBN1):c.6448C>T (p.Arg2150Cys)
|
rs76702162
|
0.00001
|
NM_000138.5(FBN1):c.644G>A (p.Arg215Gln)
|
rs753703844
|
0.00001
|
NM_000138.5(FBN1):c.6461C>G (p.Pro2154Arg)
|
rs756219617
|
0.00001
|
NM_000138.5(FBN1):c.6493G>T (p.Val2165Leu)
|
rs200469438
|
0.00001
|
NM_000138.5(FBN1):c.6496+3G>A
|
rs750222196
|
0.00001
|
NM_000138.5(FBN1):c.6560G>A (p.Gly2187Asp)
|
rs2043050989
|
0.00001
|
NM_000138.5(FBN1):c.6601A>G (p.Met2201Val)
|
rs776823384
|
0.00001
|
NM_000138.5(FBN1):c.6724C>T (p.Arg2242Cys)
|
rs779749926
|
0.00001
|
NM_000138.5(FBN1):c.6725G>A (p.Arg2242His)
|
rs773084230
|
0.00001
|
NM_000138.5(FBN1):c.6739+10C>T
|
rs1179540326
|
0.00001
|
NM_000138.5(FBN1):c.6783A>C (p.Lys2261Asn)
|
rs771716423
|
0.00001
|
NM_000138.5(FBN1):c.6845G>A (p.Arg2282Gln)
|
rs759696323
|
0.00001
|
NM_000138.5(FBN1):c.6859G>C (p.Glu2287Gln)
|
rs551736585
|
0.00001
|
NM_000138.5(FBN1):c.687C>G (p.His229Gln)
|
rs1391600366
|
0.00001
|
NM_000138.5(FBN1):c.6917G>A (p.Arg2306His)
|
rs770443276
|
0.00001
|
NM_000138.5(FBN1):c.6932G>A (p.Arg2311His)
|
rs141868829
|
0.00001
|
NM_000138.5(FBN1):c.6970G>A (p.Ala2324Thr)
|
rs148831709
|
0.00001
|
NM_000138.5(FBN1):c.6988G>A (p.Glu2330Lys)
|
rs1042807324
|
0.00001
|
NM_000138.5(FBN1):c.6998-14A>C
|
rs750002445
|
0.00001
|
NM_000138.5(FBN1):c.7040T>C (p.Met2347Thr)
|
rs1270326945
|
0.00001
|
NM_000138.5(FBN1):c.7057A>G (p.Ser2353Gly)
|
rs886042199
|
0.00001
|
NM_000138.5(FBN1):c.7082C>T (p.Ser2361Leu)
|
rs397515844
|
0.00001
|
NM_000138.5(FBN1):c.7181G>A (p.Arg2394Gln)
|
rs199750146
|
0.00001
|
NM_000138.5(FBN1):c.7186T>C (p.Phe2396Leu)
|
rs530362771
|
0.00001
|
NM_000138.5(FBN1):c.7189A>G (p.Met2397Val)
|
rs774698871
|
0.00001
|
NM_000138.5(FBN1):c.7228C>T (p.His2410Tyr)
|
rs548057493
|
0.00001
|
NM_000138.5(FBN1):c.7330+5G>A
|
rs1330909386
|
0.00001
|
NM_000138.5(FBN1):c.7360C>A (p.Pro2454Thr)
|
rs1166405014
|
0.00001
|
NM_000138.5(FBN1):c.7559C>T (p.Thr2520Met)
|
rs763759308
|
0.00001
|
NM_000138.5(FBN1):c.7567A>C (p.Ile2523Leu)
|
rs199524640
|
0.00001
|
NM_000138.5(FBN1):c.7598A>G (p.Asn2533Ser)
|
rs111231879
|
0.00001
|
NM_000138.5(FBN1):c.763G>A (p.Gly255Arg)
|
rs781113082
|
0.00001
|
NM_000138.5(FBN1):c.7702G>A (p.Val2568Met)
|
rs138558987
|
0.00001
|
NM_000138.5(FBN1):c.7735C>T (p.His2579Tyr)
|
rs1483255856
|
0.00001
|
NM_000138.5(FBN1):c.776G>A (p.Gly259Glu)
|
rs751169871
|
0.00001
|
NM_000138.5(FBN1):c.7848C>G (p.Ile2616Met)
|
rs138184493
|
0.00001
|
NM_000138.5(FBN1):c.794C>T (p.Thr265Ile)
|
rs762310407
|
0.00001
|
NM_000138.5(FBN1):c.796G>A (p.Val266Ile)
|
rs201669595
|
0.00001
|
NM_000138.5(FBN1):c.8026C>T (p.Pro2676Ser)
|
rs745650955
|
0.00001
|
NM_000138.5(FBN1):c.8029G>A (p.Gly2677Ser)
|
rs1566889839
|
0.00001
|
NM_000138.5(FBN1):c.8039G>A (p.Arg2680His)
|
rs748934203
|
0.00001
|
NM_000138.5(FBN1):c.8051+5G>A
|
rs767384075
|
0.00001
|
NM_000138.5(FBN1):c.8177G>A (p.Arg2726Gln)
|
rs552157433
|
0.00001
|
NM_000138.5(FBN1):c.8189G>A (p.Arg2730Gln)
|
rs200231626
|
0.00001
|
NM_000138.5(FBN1):c.8198C>G (p.Thr2733Arg)
|
rs794728340
|
0.00001
|
NM_000138.5(FBN1):c.8200A>G (p.Asn2734Asp)
|
rs757532651
|
0.00001
|
NM_000138.5(FBN1):c.8218A>G (p.Asn2740Asp)
|
rs397515860
|
0.00001
|
NM_000138.5(FBN1):c.8227-3C>T
|
rs200822151
|
0.00001
|
NM_000138.5(FBN1):c.827G>T (p.Gly276Val)
|
rs534859193
|
0.00001
|
NM_000138.5(FBN1):c.8287A>G (p.Ile2763Val)
|
rs775172479
|
0.00001
|
NM_000138.5(FBN1):c.8449T>G (p.Phe2817Val)
|
rs148741353
|
0.00001
|
NM_000138.5(FBN1):c.8494A>G (p.Ser2832Gly)
|
rs376933421
|
0.00001
|
NM_000138.5(FBN1):c.8524C>T (p.Leu2842Phe)
|
rs755903722
|
0.00001
|
NM_000138.5(FBN1):c.8533C>G (p.Leu2845Val)
|
rs767060377
|
0.00001
|
NM_000138.5(FBN1):c.8537A>G (p.Glu2846Gly)
|
rs754570125
|
0.00001
|
NM_000138.5(FBN1):c.8538A>C (p.Glu2846Asp)
|
rs778948309
|
0.00001
|
NM_000138.5(FBN1):c.8543A>C (p.Lys2848Thr)
|
rs765839151
|
0.00001
|
NM_000138.5(FBN1):c.8551A>G (p.Lys2851Glu)
|
rs371939796
|
0.00001
|
NM_000138.5(FBN1):c.8593A>G (p.Lys2865Glu)
|
rs775732785
|
0.00001
|
NM_000138.5(FBN1):c.8606T>C (p.Leu2869Ser)
|
rs363848
|
0.00001
|
NM_000138.5(FBN1):c.863A>G (p.Asp288Gly)
|
rs565078451
|
0.00001
|
NM_000138.5(FBN1):c.913A>G (p.Thr305Ala)
|
rs758035051
|
0.00001
|
NM_000138.5(FBN1):c.91G>A (p.Ala31Thr)
|
rs371130701
|
0.00001
|
NM_000138.5(FBN1):c.968C>T (p.Pro323Leu)
|
rs1183175645
|
0.00001
|
NM_000138.5(FBN1):c.987A>G (p.Ile329Met)
|
rs1289726476
|
0.00001
|
NM_000138.5(FBN1):c.994C>T (p.Arg332Cys)
|
rs1161109360
|
0.00001
|
NM_000302.4(PLOD1):c.1027G>A (p.Glu343Lys)
|
rs748344499
|
0.00001
|
NM_000302.4(PLOD1):c.1130A>C (p.Tyr377Ser)
|
rs754748178
|
0.00001
|
NM_000302.4(PLOD1):c.1181G>A (p.Arg394Gln)
|
rs767839550
|
0.00001
|
NM_000302.4(PLOD1):c.1217C>T (p.Pro406Leu)
|
rs753623016
|
0.00001
|
NM_000302.4(PLOD1):c.1325G>A (p.Arg442His)
|
rs199567720
|
0.00001
|
NM_000302.4(PLOD1):c.1482G>C (p.Met494Ile)
|
rs780133138
|
0.00001
|
NM_000302.4(PLOD1):c.1511A>G (p.His504Arg)
|
rs555034048
|
0.00001
|
NM_000302.4(PLOD1):c.1516C>T (p.Leu506Phe)
|
rs1374717198
|
0.00001
|
NM_000302.4(PLOD1):c.1535G>A (p.Arg512His)
|
rs773170096
|
0.00001
|
NM_000302.4(PLOD1):c.1780G>A (p.Glu594Lys)
|
rs777937910
|
0.00001
|
NM_000302.4(PLOD1):c.1862C>T (p.Ala621Val)
|
rs774249367
|
0.00001
|
NM_000302.4(PLOD1):c.1865C>T (p.Pro622Leu)
|
rs766973023
|
0.00001
|
NM_000302.4(PLOD1):c.2042G>A (p.Arg681Gln)
|
rs755654001
|
0.00001
|
NM_000302.4(PLOD1):c.2050C>T (p.Arg684Cys)
|
rs748841458
|
0.00001
|
NM_000302.4(PLOD1):c.209C>T (p.Thr70Met)
|
rs780253192
|
0.00001
|
NM_000302.4(PLOD1):c.214G>T (p.Ala72Ser)
|
rs1343912990
|
0.00001
|
NM_000302.4(PLOD1):c.265G>T (p.Ala89Ser)
|
rs886039207
|
0.00001
|
NM_000302.4(PLOD1):c.331C>T (p.Arg111Trp)
|
rs772221158
|
0.00001
|
NM_000302.4(PLOD1):c.353G>A (p.Arg118Gln)
|
rs781455578
|
0.00001
|
NM_000302.4(PLOD1):c.363G>C (p.Arg121Ser)
|
rs768422539
|
0.00001
|
NM_000302.4(PLOD1):c.590A>G (p.Asn197Ser)
|
rs750416079
|
0.00001
|
NM_000302.4(PLOD1):c.607C>T (p.Arg203Cys)
|
rs534314930
|
0.00001
|
NM_000302.4(PLOD1):c.741+4G>C
|
rs763641520
|
0.00001
|
NM_000302.4(PLOD1):c.824G>A (p.Arg275His)
|
rs184999645
|
0.00001
|
NM_000302.4(PLOD1):c.82C>A (p.Leu28Ile)
|
rs776894307
|
0.00001
|
NM_000302.4(PLOD1):c.856C>T (p.Pro286Ser)
|
rs748920493
|
0.00001
|
NM_000302.4(PLOD1):c.860C>T (p.Thr287Met)
|
rs777957649
|
0.00001
|
NM_000302.4(PLOD1):c.896C>T (p.Pro299Leu)
|
rs532145123
|
0.00001
|
NM_000302.4(PLOD1):c.95C>T (p.Thr32Met)
|
rs374597380
|
0.00001
|
NM_000393.5(COL5A2):c.1579C>T (p.Arg527Cys)
|
rs863223490
|
0.00001
|
NM_000393.5(COL5A2):c.158T>A (p.Ile53Asn)
|
rs1443765130
|
0.00001
|
NM_000393.5(COL5A2):c.1636G>A (p.Gly546Ser)
|
rs369506320
|
0.00001
|
NM_000393.5(COL5A2):c.1A>G (p.Met1Val)
|
rs563606558
|
0.00001
|
NM_000393.5(COL5A2):c.2002C>A (p.Gln668Lys)
|
rs144652675
|
0.00001
|
NM_000393.5(COL5A2):c.2392-4A>G
|
rs758314268
|
0.00001
|
NM_000393.5(COL5A2):c.239T>A (p.Leu80Gln)
|
rs1458760818
|
0.00001
|
NM_000393.5(COL5A2):c.2488C>T (p.Arg830Trp)
|
rs778544623
|
0.00001
|
NM_000393.5(COL5A2):c.250G>A (p.Asp84Asn)
|
rs745528957
|
0.00001
|
NM_000393.5(COL5A2):c.2563G>A (p.Gly855Arg)
|
rs1064795616
|
0.00001
|
NM_000393.5(COL5A2):c.3091C>T (p.Pro1031Ser)
|
rs187336363
|
0.00001
|
NM_000393.5(COL5A2):c.3290C>T (p.Ala1097Val)
|
rs1162768110
|
0.00001
|
NM_000393.5(COL5A2):c.3352C>T (p.Arg1118Cys)
|
rs1386081744
|
0.00001
|
NM_000393.5(COL5A2):c.3676C>T (p.Pro1226Ser)
|
rs199621926
|
0.00001
|
NM_000393.5(COL5A2):c.379A>G (p.Ile127Val)
|
rs1064795177
|
0.00001
|
NM_000393.5(COL5A2):c.3883A>G (p.Thr1295Ala)
|
rs765068787
|
0.00001
|
NM_000393.5(COL5A2):c.388C>T (p.Arg130Cys)
|
rs754170105
|
0.00001
|
NM_000393.5(COL5A2):c.3913G>A (p.Ala1305Thr)
|
rs372897632
|
0.00001
|
NM_000393.5(COL5A2):c.4085A>G (p.Tyr1362Cys)
|
rs141206016
|
0.00001
|
NM_000393.5(COL5A2):c.4316T>C (p.Ile1439Thr)
|
rs754240060
|
0.00001
|
NM_000393.5(COL5A2):c.4324C>T (p.Arg1442Trp)
|
rs146982082
|
0.00001
|
NM_000393.5(COL5A2):c.4411C>T (p.Arg1471Cys)
|
rs1430667498
|
0.00001
|
NM_000393.5(COL5A2):c.490C>G (p.Pro164Ala)
|
rs1218677057
|
0.00001
|
NM_000393.5(COL5A2):c.548G>C (p.Gly183Ala)
|
rs1686805632
|
0.00001
|
NM_000393.5(COL5A2):c.587C>A (p.Ala196Asp)
|
rs746671710
|
0.00001
|
NM_000393.5(COL5A2):c.5T>C (p.Met2Thr)
|
rs762874073
|
0.00001
|
NM_000393.5(COL5A2):c.798+5G>A
|
rs1296613540
|
0.00001
|
NM_001040113.2(MYH11):c.5821C>A (p.Gln1941Lys)
|
rs765457680
|
0.00001
|
NM_001040113.2(MYH11):c.5822A>G (p.Gln1941Arg)
|
rs761957202
|
0.00001
|
NM_001040113.2(MYH11):c.5836T>A (p.Ter1946Arg)
|
rs1365916121
|
0.00001
|
NM_001110556.2(FLNA):c.1045G>A (p.Glu349Lys)
|
rs370490152
|
0.00001
|
NM_001110556.2(FLNA):c.1270A>G (p.Met424Val)
|
rs782066542
|
0.00001
|
NM_001110556.2(FLNA):c.1399C>T (p.Arg467Cys)
|
rs367948333
|
0.00001
|
NM_001110556.2(FLNA):c.1439C>T (p.Pro480Leu)
|
rs782168634
|
0.00001
|
NM_001110556.2(FLNA):c.1684G>A (p.Gly562Arg)
|
rs781806203
|
0.00001
|
NM_001110556.2(FLNA):c.1687C>T (p.Arg563Cys)
|
rs782477178
|
0.00001
|
NM_001110556.2(FLNA):c.1688G>A (p.Arg563His)
|
rs781852373
|
0.00001
|
NM_001110556.2(FLNA):c.1765G>A (p.Gly589Ser)
|
rs782371876
|
0.00001
|
NM_001110556.2(FLNA):c.2104G>A (p.Gly702Ser)
|
rs781988346
|
0.00001
|
NM_001110556.2(FLNA):c.2254G>A (p.Val752Ile)
|
rs1297013254
|
0.00001
|
NM_001110556.2(FLNA):c.2492A>G (p.Asn831Ser)
|
rs781846227
|
0.00001
|
NM_001110556.2(FLNA):c.2791A>G (p.Asn931Asp)
|
rs190437842
|
0.00001
|
NM_001110556.2(FLNA):c.2826+4G>A
|
rs1037180469
|
0.00001
|
NM_001110556.2(FLNA):c.2831C>T (p.Pro944Leu)
|
rs782451202
|
0.00001
|
NM_001110556.2(FLNA):c.3643G>A (p.Gly1215Ser)
|
rs782482207
|
0.00001
|
NM_001110556.2(FLNA):c.3814C>T (p.Arg1272Cys)
|
rs1420631223
|
0.00001
|
NM_001110556.2(FLNA):c.3815G>A (p.Arg1272His)
|
rs2067691676
|
0.00001
|
NM_001110556.2(FLNA):c.3886C>T (p.Arg1296Cys)
|
rs781816229
|
0.00001
|
NM_001110556.2(FLNA):c.3925G>A (p.Val1309Ile)
|
rs782412141
|
0.00001
|
NM_001110556.2(FLNA):c.4207A>G (p.Met1403Val)
|
rs781976719
|
0.00001
|
NM_001110556.2(FLNA):c.4208T>G (p.Met1403Arg)
|
rs886039174
|
0.00001
|
NM_001110556.2(FLNA):c.4243A>C (p.Ile1415Leu)
|
rs2067686132
|
0.00001
|
NM_001110556.2(FLNA):c.4294C>A (p.Gln1432Lys)
|
rs192337215
|
0.00001
|
NM_001110556.2(FLNA):c.4666A>G (p.Asn1556Asp)
|
rs782605190
|
0.00001
|
NM_001110556.2(FLNA):c.4825G>A (p.Val1609Met)
|
rs782314291
|
0.00001
|
NM_001110556.2(FLNA):c.5127C>A (p.Asp1709Glu)
|
rs1557176627
|
0.00001
|
NM_001110556.2(FLNA):c.5257C>T (p.Arg1753Trp)
|
rs782147650
|
0.00001
|
NM_001110556.2(FLNA):c.5591A>G (p.Asn1864Ser)
|
rs782095418
|
0.00001
|
NM_001110556.2(FLNA):c.5753G>A (p.Gly1918Glu)
|
rs373862172
|
0.00001
|
NM_001110556.2(FLNA):c.5875C>T (p.Arg1959Cys)
|
rs10458342
|
0.00001
|
NM_001110556.2(FLNA):c.6019G>A (p.Val2007Met)
|
rs200956777
|
0.00001
|
NM_001110556.2(FLNA):c.6601C>T (p.Arg2201Cys)
|
rs782621818
|
0.00001
|
NM_001110556.2(FLNA):c.6607G>A (p.Val2203Ile)
|
rs782562592
|
0.00001
|
NM_001110556.2(FLNA):c.6725G>A (p.Arg2242Gln)
|
rs781984274
|
0.00001
|
NM_001110556.2(FLNA):c.6763G>C (p.Val2255Leu)
|
rs1557175926
|
0.00001
|
NM_001110556.2(FLNA):c.7013C>G (p.Ser2338Cys)
|
rs781878646
|
0.00001
|
NM_001110556.2(FLNA):c.7055C>T (p.Ser2352Phe)
|
rs1557175646
|
0.00001
|
NM_001110556.2(FLNA):c.7388C>T (p.Ser2463Leu)
|
rs1460574102
|
0.00001
|
NM_001110556.2(FLNA):c.7463C>A (p.Thr2488Asn)
|
rs909387820
|
0.00001
|
NM_001110556.2(FLNA):c.7555C>T (p.Pro2519Ser)
|
rs782383611
|
0.00001
|
NM_001110556.2(FLNA):c.7577G>A (p.Ser2526Asn)
|
rs1485769153
|
0.00001
|
NM_001110556.2(FLNA):c.76G>C (p.Ala26Pro)
|
rs886038966
|
0.00001
|
NM_001613.4(ACTA2):c.107T>C (p.Ile36Thr)
|
rs772919504
|
0.00001
|
NM_001613.4(ACTA2):c.1109C>G (p.Ser370Cys)
|
rs749867078
|
0.00001
|
NM_001613.4(ACTA2):c.175G>A (p.Glu59Lys)
|
rs1306745024
|
0.00001
|
NM_001613.4(ACTA2):c.281A>G (p.Asn94Ser)
|
rs756569259
|
0.00001
|
NM_001613.4(ACTA2):c.296C>G (p.Ala99Gly)
|
rs779757924
|
0.00001
|
NM_001613.4(ACTA2):c.310C>T (p.Pro104Ser)
|
rs1156640249
|
0.00001
|
NM_001613.4(ACTA2):c.446G>A (p.Arg149His)
|
rs794728025
|
0.00001
|
NM_001613.4(ACTA2):c.460G>A (p.Val154Met)
|
rs1477551716
|
0.00001
|
NM_001613.4(ACTA2):c.553C>T (p.Arg185Ter)
|
rs772473154
|
0.00001
|
NM_001613.4(ACTA2):c.592C>T (p.Arg198Cys)
|
rs772862676
|
0.00001
|
NM_001613.4(ACTA2):c.616+6G>A
|
rs1270669606
|
0.00001
|
NM_001613.4(ACTA2):c.623G>A (p.Arg208His)
|
rs1057521703
|
0.00001
|
NM_001613.4(ACTA2):c.689C>G (p.Ala230Gly)
|
rs757461793
|
0.00001
|
NM_001613.4(ACTA2):c.697G>A (p.Ala233Thr)
|
rs777810222
|
0.00001
|
NM_001613.4(ACTA2):c.722G>A (p.Ser241Asn)
|
rs756232774
|
0.00001
|
NM_001613.4(ACTA2):c.748A>C (p.Ile250Leu)
|
rs755463167
|
0.00001
|
NM_001613.4(ACTA2):c.775del (p.Cys259fs)
|
rs1178695989
|
0.00001
|
NM_001613.4(ACTA2):c.784A>G (p.Thr262Ala)
|
rs1382142026
|
0.00001
|
NM_001613.4(ACTA2):c.896A>G (p.Asn299Ser)
|
rs886038946
|
0.00001
|
NM_001613.4(ACTA2):c.995T>C (p.Ile332Thr)
|
rs1314144330
|
0.00001
|
NM_001999.4(FBN2):c.-2C>A
|
rs776371080
|
0.00001
|
NM_001999.4(FBN2):c.1234G>A (p.Glu412Lys)
|
rs962522833
|
0.00001
|
NM_001999.4(FBN2):c.1505C>G (p.Ala502Gly)
|
rs369405711
|
0.00001
|
NM_001999.4(FBN2):c.1813G>A (p.Gly605Ser)
|
rs863223553
|
0.00001
|
NM_001999.4(FBN2):c.2099C>T (p.Thr700Ile)
|
rs773667668
|
0.00001
|
NM_001999.4(FBN2):c.220G>A (p.Val74Ile)
|
rs779812100
|
0.00001
|
NM_001999.4(FBN2):c.2375G>A (p.Arg792His)
|
rs374031658
|
0.00001
|
NM_001999.4(FBN2):c.257C>G (p.Pro86Arg)
|
rs749819006
|
0.00001
|
NM_001999.4(FBN2):c.2777C>A (p.Ala926Asp)
|
rs138429045
|
0.00001
|
NM_001999.4(FBN2):c.3114G>C (p.Glu1038Asp)
|
rs199938409
|
0.00001
|
NM_001999.4(FBN2):c.3304A>G (p.Ser1102Gly)
|
rs761012607
|
0.00001
|
NM_001999.4(FBN2):c.3430G>A (p.Glu1144Lys)
|
rs200060005
|
0.00001
|
NM_001999.4(FBN2):c.3514G>A (p.Gly1172Ser)
|
rs138303817
|
0.00001
|
NM_001999.4(FBN2):c.3721A>G (p.Thr1241Ala)
|
rs754701797
|
0.00001
|
NM_001999.4(FBN2):c.3877A>T (p.Ile1293Phe)
|
rs1263059454
|
0.00001
|
NM_001999.4(FBN2):c.3884A>G (p.Asp1295Gly)
|
rs775987665
|
0.00001
|
NM_001999.4(FBN2):c.3919C>T (p.Arg1307Cys)
|
rs922751471
|
0.00001
|
NM_001999.4(FBN2):c.3971T>C (p.Ile1324Thr)
|
rs150872093
|
0.00001
|
NM_001999.4(FBN2):c.4096A>G (p.Thr1366Ala)
|
rs768722316
|
0.00001
|
NM_001999.4(FBN2):c.4258A>G (p.Ser1420Gly)
|
rs1407868144
|
0.00001
|
NM_001999.4(FBN2):c.4283C>A (p.Thr1428Asn)
|
rs367961012
|
0.00001
|
NM_001999.4(FBN2):c.4402G>A (p.Val1468Ile)
|
rs199668238
|
0.00001
|
NM_001999.4(FBN2):c.460A>G (p.Met154Val)
|
rs878854475
|
0.00001
|
NM_001999.4(FBN2):c.4864C>A (p.Pro1622Thr)
|
rs750116860
|
0.00001
|
NM_001999.4(FBN2):c.488A>G (p.His163Arg)
|
rs1029299660
|
0.00001
|
NM_001999.4(FBN2):c.5120C>T (p.Thr1707Ile)
|
rs572030603
|
0.00001
|
NM_001999.4(FBN2):c.5267A>G (p.Asn1756Ser)
|
rs760065931
|
0.00001
|
NM_001999.4(FBN2):c.5303T>C (p.Val1768Ala)
|
rs779202876
|
0.00001
|
NM_001999.4(FBN2):c.5692G>A (p.Glu1898Lys)
|
rs767932789
|
0.00001
|
NM_001999.4(FBN2):c.5762A>G (p.Asn1921Ser)
|
rs1160016215
|
0.00001
|
NM_001999.4(FBN2):c.5834A>G (p.Asn1945Ser)
|
rs863223578
|
0.00001
|
NM_001999.4(FBN2):c.5899C>T (p.His1967Tyr)
|
rs369652475
|
0.00001
|
NM_001999.4(FBN2):c.5900A>G (p.His1967Arg)
|
rs1314671452
|
0.00001
|
NM_001999.4(FBN2):c.6074G>A (p.Gly2025Asp)
|
rs547583705
|
0.00001
|
NM_001999.4(FBN2):c.6140A>G (p.Tyr2047Cys)
|
rs368453513
|
0.00001
|
NM_001999.4(FBN2):c.6445+5G>A
|
rs761871037
|
0.00001
|
NM_001999.4(FBN2):c.6445G>A (p.Val2149Ile)
|
rs1394667470
|
0.00001
|
NM_001999.4(FBN2):c.6629G>A (p.Arg2210His)
|
rs745396297
|
0.00001
|
NM_001999.4(FBN2):c.6805A>G (p.Met2269Val)
|
rs943225631
|
0.00001
|
NM_001999.4(FBN2):c.7262A>G (p.Gln2421Arg)
|
rs764759689
|
0.00001
|
NM_001999.4(FBN2):c.7385A>G (p.Asn2462Ser)
|
rs576501460
|
0.00001
|
NM_001999.4(FBN2):c.7565T>C (p.Val2522Ala)
|
rs886039005
|
0.00001
|
NM_001999.4(FBN2):c.7987G>A (p.Ala2663Thr)
|
rs1245151549
|
0.00001
|
NM_001999.4(FBN2):c.8254G>A (p.Asp2752Asn)
|
rs529742815
|
0.00001
|
NM_001999.4(FBN2):c.82G>T (p.Gly28Cys)
|
rs772841538
|
0.00001
|
NM_001999.4(FBN2):c.8668A>G (p.Asn2890Asp)
|
rs888064842
|
0.00001
|
NM_001999.4(FBN2):c.8675A>G (p.Asp2892Gly)
|
rs768293070
|
0.00001
|
NM_002474.3(MYH11):c.-12C>T
|
rs763118586
|
0.00001
|
NM_002474.3(MYH11):c.-13C>A
|
rs767404390
|
0.00001
|
NM_002474.3(MYH11):c.-15G>T
|
rs1471321087
|
0.00001
|
NM_002474.3(MYH11):c.1003A>G (p.Ile335Val)
|
rs1258616305
|
0.00001
|
NM_002474.3(MYH11):c.1009G>A (p.Gly337Ser)
|
rs1393758073
|
0.00001
|
NM_002474.3(MYH11):c.1055C>T (p.Ser352Leu)
|
rs147496115
|
0.00001
|
NM_002474.3(MYH11):c.1065G>C (p.Gln355His)
|
rs2041923210
|
0.00001
|
NM_002474.3(MYH11):c.1121A>G (p.Asp374Gly)
|
rs1174407076
|
0.00001
|
NM_002474.3(MYH11):c.1124A>G (p.Asn375Ser)
|
rs1344686228
|
0.00001
|
NM_002474.3(MYH11):c.1129+4C>T
|
rs748467983
|
0.00001
|
NM_002474.3(MYH11):c.1132G>A (p.Ala378Thr)
|
rs943768534
|
0.00001
|
NM_002474.3(MYH11):c.1181G>A (p.Arg394Lys)
|
rs767021608
|
0.00001
|
NM_002474.3(MYH11):c.119C>T (p.Ser40Leu)
|
rs775927183
|
0.00001
|
NM_002474.3(MYH11):c.1249-4dup
|
rs748020048
|
0.00001
|
NM_002474.3(MYH11):c.1316G>A (p.Arg439His)
|
rs372247345
|
0.00001
|
NM_002474.3(MYH11):c.133T>G (p.Phe45Val)
|
rs746419144
|
0.00001
|
NM_002474.3(MYH11):c.1355C>T (p.Ala452Val)
|
rs1291260053
|
0.00001
|
NM_002474.3(MYH11):c.1402-12C>G
|
rs769036516
|
0.00001
|
NM_002474.3(MYH11):c.1513G>A (p.Glu505Lys)
|
rs747217502
|
0.00001
|
NM_002474.3(MYH11):c.1529A>C (p.Asp510Ala)
|
rs1443735566
|
0.00001
|
NM_002474.3(MYH11):c.152A>T (p.Lys51Met)
|
rs748791569
|
0.00001
|
NM_002474.3(MYH11):c.1574C>T (p.Pro525Leu)
|
rs750288554
|
0.00001
|
NM_002474.3(MYH11):c.1575+3G>A
|
rs377632137
|
0.00001
|
NM_002474.3(MYH11):c.161A>G (p.Lys54Arg)
|
rs1015353331
|
0.00001
|
NM_002474.3(MYH11):c.1666G>A (p.Glu556Lys)
|
rs758166424
|
0.00001
|
NM_002474.3(MYH11):c.1712A>T (p.Asp571Val)
|
rs2041716956
|
0.00001
|
NM_002474.3(MYH11):c.1787T>C (p.Met596Thr)
|
rs1338996385
|
0.00001
|
NM_002474.3(MYH11):c.1807G>A (p.Val603Met)
|
rs747024997
|
0.00001
|
NM_002474.3(MYH11):c.1823A>G (p.Asn608Ser)
|
rs750642581
|
0.00001
|
NM_002474.3(MYH11):c.1834G>A (p.Asp612Asn)
|
rs1267918882
|
0.00001
|
NM_002474.3(MYH11):c.1847C>G (p.Ala616Gly)
|
rs140688587
|
0.00001
|
NM_002474.3(MYH11):c.1924G>A (p.Ala642Thr)
|
rs371750065
|
0.00001
|
NM_002474.3(MYH11):c.1981C>G (p.Leu661Val)
|
rs1267658886
|
0.00001
|
NM_002474.3(MYH11):c.1990C>G (p.Leu664Val)
|
rs762549707
|
0.00001
|
NM_002474.3(MYH11):c.1993A>G (p.Met665Val)
|
rs2041529040
|
0.00001
|
NM_002474.3(MYH11):c.2015C>T (p.Thr672Met)
|
rs749498320
|
0.00001
|
NM_002474.3(MYH11):c.2058+10G>A
|
rs757874059
|
0.00001
|
NM_002474.3(MYH11):c.2098C>T (p.Arg700Trp)
|
rs886038932
|
0.00001
|
NM_002474.3(MYH11):c.2099G>A (p.Arg700Gln)
|
rs376758800
|
0.00001
|
NM_002474.3(MYH11):c.209C>T (p.Thr70Met)
|
rs1222746393
|
0.00001
|
NM_002474.3(MYH11):c.2152C>T (p.Arg718Trp)
|
rs1275950124
|
0.00001
|
NM_002474.3(MYH11):c.2173C>T (p.Arg725Cys)
|
rs373251357
|
0.00001
|
NM_002474.3(MYH11):c.2179C>T (p.Arg727Cys)
|
rs1401359617
|
0.00001
|
NM_002474.3(MYH11):c.2185G>A (p.Glu729Lys)
|
rs1460761362
|
0.00001
|
NM_002474.3(MYH11):c.2195C>T (p.Ala732Val)
|
rs764831521
|
0.00001
|
NM_002474.3(MYH11):c.2288T>C (p.Ile763Thr)
|
rs944017240
|
0.00001
|
NM_002474.3(MYH11):c.2297G>A (p.Ser766Asn)
|
rs1050298581
|
0.00001
|
NM_002474.3(MYH11):c.2302A>G (p.Ile768Val)
|
rs779331046
|
0.00001
|
NM_002474.3(MYH11):c.2329C>A (p.His777Asn)
|
rs767136120
|
0.00001
|
NM_002474.3(MYH11):c.2345G>A (p.Arg782Gln)
|
rs200835799
|
0.00001
|
NM_002474.3(MYH11):c.2371A>G (p.Met791Val)
|
rs780266654
|
0.00001
|
NM_002474.3(MYH11):c.2393G>A (p.Arg798His)
|
rs757602048
|
0.00001
|
NM_002474.3(MYH11):c.2426G>A (p.Arg809Lys)
|
rs534802983
|
0.00001
|
NM_002474.3(MYH11):c.2600G>A (p.Arg867Gln)
|
rs773993037
|
0.00001
|
NM_002474.3(MYH11):c.2735G>A (p.Arg912Gln)
|
rs768392407
|
0.00001
|
NM_002474.3(MYH11):c.2788C>T (p.Arg930Cys)
|
rs755324860
|
0.00001
|
NM_002474.3(MYH11):c.2789G>A (p.Arg930His)
|
rs1025259076
|
0.00001
|
NM_002474.3(MYH11):c.2812G>A (p.Gly938Ser)
|
rs1227980651
|
0.00001
|
NM_002474.3(MYH11):c.281C>T (p.Thr94Met)
|
rs794728681
|
0.00001
|
NM_002474.3(MYH11):c.2855T>C (p.Met952Thr)
|
rs372275868
|
0.00001
|
NM_002474.3(MYH11):c.2863C>G (p.Leu955Val)
|
rs145121051
|
0.00001
|
NM_002474.3(MYH11):c.3002G>A (p.Arg1001Gln)
|
rs376622843
|
0.00001
|
NM_002474.3(MYH11):c.3124C>T (p.Arg1042Trp)
|
rs774490005
|
0.00001
|
NM_002474.3(MYH11):c.3152A>G (p.Gln1051Arg)
|
rs1555557294
|
0.00001
|
NM_002474.3(MYH11):c.3233T>C (p.Ile1078Thr)
|
rs193922629
|
0.00001
|
NM_002474.3(MYH11):c.3286C>A (p.Leu1096Met)
|
rs886039079
|
0.00001
|
NM_002474.3(MYH11):c.3375G>C (p.Glu1125Asp)
|
rs779019646
|
0.00001
|
NM_002474.3(MYH11):c.3391C>T (p.Arg1131Trp)
|
rs778315061
|
0.00001
|
NM_002474.3(MYH11):c.3397G>A (p.Ala1133Thr)
|
rs148731225
|
0.00001
|
NM_002474.3(MYH11):c.3409G>T (p.Ala1137Ser)
|
rs761268562
|
0.00001
|
NM_002474.3(MYH11):c.3469G>A (p.Asp1157Asn)
|
rs746943696
|
0.00001
|
NM_002474.3(MYH11):c.347C>T (p.Thr116Met)
|
rs1220795088
|
0.00001
|
NM_002474.3(MYH11):c.3619G>A (p.Glu1207Lys)
|
rs371831822
|
0.00001
|
NM_002474.3(MYH11):c.3683C>T (p.Thr1228Met)
|
rs755810220
|
0.00001
|
NM_002474.3(MYH11):c.3712G>A (p.Gly1238Arg)
|
rs558332944
|
0.00001
|
NM_002474.3(MYH11):c.3719T>G (p.Leu1240Arg)
|
rs111318460
|
0.00001
|
NM_002474.3(MYH11):c.3721C>T (p.Arg1241Trp)
|
rs771515309
|
0.00001
|
NM_002474.3(MYH11):c.3754C>T (p.His1252Tyr)
|
rs1006269156
|
0.00001
|
NM_002474.3(MYH11):c.3756T>G (p.His1252Gln)
|
rs1390595486
|
0.00001
|
NM_002474.3(MYH11):c.3765G>T (p.Lys1255Asn)
|
rs1596738517
|
0.00001
|
NM_002474.3(MYH11):c.3788A>G (p.Glu1263Gly)
|
rs759729702
|
0.00001
|
NM_002474.3(MYH11):c.3844G>A (p.Val1282Ile)
|
rs763285173
|
0.00001
|
NM_002474.3(MYH11):c.3865G>C (p.Val1289Leu)
|
rs1264354643
|
0.00001
|
NM_002474.3(MYH11):c.3892G>A (p.Glu1298Lys)
|
rs780157741
|
0.00001
|
NM_002474.3(MYH11):c.3910A>C (p.Ile1304Leu)
|
rs200737737
|
0.00001
|
NM_002474.3(MYH11):c.3934T>C (p.Ser1312Pro)
|
rs766001513
|
0.00001
|
NM_002474.3(MYH11):c.3935C>T (p.Ser1312Phe)
|
rs1596732730
|
0.00001
|
NM_002474.3(MYH11):c.3986G>A (p.Arg1329Gln)
|
rs761662427
|
0.00001
|
NM_002474.3(MYH11):c.4000G>C (p.Val1334Leu)
|
rs139377348
|
0.00001
|
NM_002474.3(MYH11):c.4024G>A (p.Glu1342Lys)
|
rs755408359
|
0.00001
|
NM_002474.3(MYH11):c.4031A>T (p.Glu1344Val)
|
rs886051746
|
0.00001
|
NM_002474.3(MYH11):c.4037A>G (p.Asn1346Ser)
|
rs371790612
|
0.00001
|
NM_002474.3(MYH11):c.4060G>A (p.Glu1354Lys)
|
rs764136209
|
0.00001
|
NM_002474.3(MYH11):c.4069G>A (p.Glu1357Lys)
|
rs141184241
|
0.00001
|
NM_002474.3(MYH11):c.4074C>T (p.Ala1358=)
|
rs370519992
|
0.00001
|
NM_002474.3(MYH11):c.4090C>T (p.Arg1364Cys)
|
rs769227102
|
0.00001
|
NM_002474.3(MYH11):c.4094A>G (p.His1365Arg)
|
rs138730904
|
0.00001
|
NM_002474.3(MYH11):c.412A>T (p.Ile138Phe)
|
rs886039133
|
0.00001
|
NM_002474.3(MYH11):c.4135A>C (p.Lys1379Gln)
|
rs753312858
|
0.00001
|
NM_002474.3(MYH11):c.418G>A (p.Asp140Asn)
|
rs1085307699
|
0.00001
|
NM_002474.3(MYH11):c.4200G>T (p.Glu1400Asp)
|
rs754997732
|
0.00001
|
NM_002474.3(MYH11):c.4204G>A (p.Glu1402Lys)
|
rs764341540
|
0.00001
|
NM_002474.3(MYH11):c.4225G>A (p.Glu1409Lys)
|
rs760096354
|
0.00001
|
NM_002474.3(MYH11):c.4237G>T (p.Ala1413Ser)
|
rs1025147024
|
0.00001
|
NM_002474.3(MYH11):c.4255G>C (p.Glu1419Gln)
|
rs567729923
|
0.00001
|
NM_002474.3(MYH11):c.4418G>T (p.Arg1473Ile)
|
rs758663266
|
0.00001
|
NM_002474.3(MYH11):c.4427C>G (p.Ala1476Gly)
|
rs367746199
|
0.00001
|
NM_002474.3(MYH11):c.4480G>A (p.Glu1494Lys)
|
rs375969176
|
0.00001
|
NM_002474.3(MYH11):c.4510C>T (p.Arg1504Trp)
|
rs144823441
|
0.00001
|
NM_002474.3(MYH11):c.4511G>A (p.Arg1504Gln)
|
rs769614526
|
0.00001
|
NM_002474.3(MYH11):c.4523T>C (p.Met1508Thr)
|
rs1298388002
|
0.00001
|
NM_002474.3(MYH11):c.452C>T (p.Pro151Leu)
|
rs750723134
|
0.00001
|
NM_002474.3(MYH11):c.4531G>A (p.Ala1511Thr)
|
rs2040479391
|
0.00001
|
NM_002474.3(MYH11):c.4543G>A (p.Asp1515Asn)
|
rs200909802
|
0.00001
|
NM_002474.3(MYH11):c.4648G>A (p.Glu1550Lys)
|
rs751716762
|
0.00001
|
NM_002474.3(MYH11):c.4660G>A (p.Glu1554Lys)
|
rs372598970
|
0.00001
|
NM_002474.3(MYH11):c.4668A>C (p.Gln1556His)
|
rs148275462
|
0.00001
|
NM_002474.3(MYH11):c.4685A>G (p.Lys1562Arg)
|
rs1019265305
|
0.00001
|
NM_002474.3(MYH11):c.4728C>G (p.Phe1576Leu)
|
rs765435868
|
0.00001
|
NM_002474.3(MYH11):c.4729G>A (p.Glu1577Lys)
|
rs761965886
|
0.00001
|
NM_002474.3(MYH11):c.4756C>G (p.Gln1586Glu)
|
rs794728680
|
0.00001
|
NM_002474.3(MYH11):c.4758G>C (p.Gln1586His)
|
rs1354578485
|
0.00001
|
NM_002474.3(MYH11):c.4790A>G (p.Gln1597Arg)
|
rs534983279
|
0.00001
|
NM_002474.3(MYH11):c.479C>T (p.Thr160Met)
|
rs794728671
|
0.00001
|
NM_002474.3(MYH11):c.4808C>T (p.Thr1603Met)
|
rs376105806
|
0.00001
|
NM_002474.3(MYH11):c.4826G>A (p.Arg1609Gln)
|
rs190316422
|
0.00001
|
NM_002474.3(MYH11):c.4850C>T (p.Ala1617Val)
|
rs767053316
|
0.00001
|
NM_002474.3(MYH11):c.488G>A (p.Arg163Gln)
|
rs1060500729
|
0.00001
|
NM_002474.3(MYH11):c.4891C>T (p.Leu1631Phe)
|
rs1364670858
|
0.00001
|
NM_002474.3(MYH11):c.4904C>G (p.Ser1635Cys)
|
rs772007259
|
0.00001
|
NM_002474.3(MYH11):c.4938G>A (p.Gln1646=)
|
rs886051740
|
0.00001
|
NM_002474.3(MYH11):c.4943G>A (p.Arg1648His)
|
rs750912363
|
0.00001
|
NM_002474.3(MYH11):c.4953G>C (p.Gln1651His)
|
rs756832190
|
0.00001
|
NM_002474.3(MYH11):c.4990G>A (p.Ala1664Thr)
|
rs1475779964
|
0.00001
|
NM_002474.3(MYH11):c.5055G>C (p.Leu1685Phe)
|
rs754570649
|
0.00001
|
NM_002474.3(MYH11):c.5089G>A (p.Ala1697Thr)
|
rs538145374
|
0.00001
|
NM_002474.3(MYH11):c.5095G>A (p.Ala1699Thr)
|
rs200410021
|
0.00001
|
NM_002474.3(MYH11):c.5122C>G (p.Leu1708Val)
|
rs1353911032
|
0.00001
|
NM_002474.3(MYH11):c.5140G>A (p.Ala1714Thr)
|
rs1344059916
|
0.00001
|
NM_002474.3(MYH11):c.5179C>T (p.Leu1727Phe)
|
rs2040286402
|
0.00001
|
NM_002474.3(MYH11):c.5197C>T (p.Arg1733Cys)
|
rs1335030890
|
0.00001
|
NM_002474.3(MYH11):c.5210G>A (p.Arg1737Gln)
|
rs148433586
|
0.00001
|
NM_002474.3(MYH11):c.5213T>C (p.Ile1738Thr)
|
rs794729642
|
0.00001
|
NM_002474.3(MYH11):c.5255T>C (p.Met1752Thr)
|
rs999924172
|
0.00001
|
NM_002474.3(MYH11):c.5288C>T (p.Thr1763Ile)
|
rs761727438
|
0.00001
|
NM_002474.3(MYH11):c.5299G>A (p.Glu1767Lys)
|
rs377663370
|
0.00001
|
NM_002474.3(MYH11):c.5302C>G (p.Gln1768Glu)
|
rs901502893
|
0.00001
|
NM_002474.3(MYH11):c.5338G>T (p.Ala1780Ser)
|
rs1041344233
|
0.00001
|
NM_002474.3(MYH11):c.5356G>A (p.Ala1786Thr)
|
rs779452783
|
0.00001
|
NM_002474.3(MYH11):c.5360G>A (p.Arg1787Gln)
|
rs759000207
|
0.00001
|
NM_002474.3(MYH11):c.5374C>T (p.Arg1792Trp)
|
rs1364355866
|
0.00001
|
NM_002474.3(MYH11):c.5404C>T (p.His1802Tyr)
|
rs1485890422
|
0.00001
|
NM_002474.3(MYH11):c.5416G>A (p.Gly1806Arg)
|
rs1384372336
|
0.00001
|
NM_002474.3(MYH11):c.5422G>A (p.Val1808Ile)
|
rs780870767
|
0.00001
|
NM_002474.3(MYH11):c.5441C>T (p.Ser1814Phe)
|
rs759033733
|
0.00001
|
NM_002474.3(MYH11):c.5453C>T (p.Ala1818Val)
|
rs771343446
|
0.00001
|
NM_002474.3(MYH11):c.5479G>A (p.Glu1827Lys)
|
rs1895647620
|
0.00001
|
NM_002474.3(MYH11):c.5483A>T (p.Glu1828Val)
|
rs1365841164
|
0.00001
|
NM_002474.3(MYH11):c.5485C>G (p.Gln1829Glu)
|
rs1005977032
|
0.00001
|
NM_002474.3(MYH11):c.5500G>A (p.Ala1834Thr)
|
rs759734157
|
0.00001
|
NM_002474.3(MYH11):c.5572G>T (p.Val1858Leu)
|
rs1436778681
|
0.00001
|
NM_002474.3(MYH11):c.5615C>T (p.Ala1872Val)
|
rs943486107
|
0.00001
|
NM_002474.3(MYH11):c.5627A>G (p.Asn1876Ser)
|
rs373369803
|
0.00001
|
NM_002474.3(MYH11):c.5633G>C (p.Arg1878Thr)
|
rs2040045274
|
0.00001
|
NM_002474.3(MYH11):c.5684G>A (p.Arg1895His)
|
rs375148396
|
0.00001
|
NM_002474.3(MYH11):c.5692G>A (p.Ala1898Thr)
|
rs1363749589
|
0.00001
|
NM_002474.3(MYH11):c.5756G>A (p.Arg1919His)
|
rs1284202501
|
0.00001
|
NM_002474.3(MYH11):c.5852C>T (p.Ala1951Val)
|
rs769211342
|
0.00001
|
NM_002474.3(MYH11):c.5863G>A (p.Glu1955Lys)
|
rs2039321637
|
0.00001
|
NM_002474.3(MYH11):c.5874G>A (p.Thr1958=)
|
rs761000142
|
0.00001
|
NM_002474.3(MYH11):c.5912G>C (p.Ser1971Thr)
|
rs914328780
|
0.00001
|
NM_002474.3(MYH11):c.62T>C (p.Ile21Thr)
|
rs777372840
|
0.00001
|
NM_002474.3(MYH11):c.685G>A (p.Gly229Ser)
|
rs1242871546
|
0.00001
|
NM_002474.3(MYH11):c.709G>A (p.Asp237Asn)
|
rs1390176909
|
0.00001
|
NM_002474.3(MYH11):c.727-8G>A
|
rs1211905522
|
0.00001
|
NM_002474.3(MYH11):c.757A>G (p.Thr253Ala)
|
rs1596822713
|
0.00001
|
NM_002474.3(MYH11):c.98A>G (p.Lys33Arg)
|
rs2043954401
|
0.00001
|
NM_003036.4(SKI):c.1070G>A (p.Arg357Gln)
|
rs200874294
|
0.00001
|
NM_003036.4(SKI):c.1117C>T (p.Arg373Cys)
|
rs749507746
|
0.00001
|
NM_003036.4(SKI):c.1247C>T (p.Ala416Val)
|
rs775044622
|
0.00001
|
NM_003036.4(SKI):c.1294A>G (p.Ser432Gly)
|
rs368739670
|
0.00001
|
NM_003036.4(SKI):c.1301C>T (p.Pro434Leu)
|
rs768068601
|
0.00001
|
NM_003036.4(SKI):c.1330G>A (p.Glu444Lys)
|
rs747693633
|
0.00001
|
NM_003036.4(SKI):c.1339G>A (p.Ala447Thr)
|
rs1325458157
|
0.00001
|
NM_003036.4(SKI):c.1411G>T (p.Val471Leu)
|
rs745717087
|
0.00001
|
NM_003036.4(SKI):c.1417G>A (p.Ala473Thr)
|
rs371772366
|
0.00001
|
NM_003036.4(SKI):c.1474+1G>A
|
rs112549942
|
0.00001
|
NM_003036.4(SKI):c.149A>T (p.Glu50Val)
|
rs1158589836
|
0.00001
|
NM_003036.4(SKI):c.1739C>T (p.Ala580Val)
|
rs1397350089
|
0.00001
|
NM_003036.4(SKI):c.2040C>G (p.Asp680Glu)
|
rs557791923
|
0.00001
|
NM_003036.4(SKI):c.2084G>A (p.Arg695Gln)
|
rs1038419071
|
0.00001
|
NM_003036.4(SKI):c.2128T>C (p.Trp710Arg)
|
rs863223728
|
0.00001
|
NM_003036.4(SKI):c.2168C>A (p.Ala723Asp)
|
rs1264586139
|
0.00001
|
NM_003036.4(SKI):c.293C>T (p.Thr98Ile)
|
rs1257955729
|
0.00001
|
NM_003036.4(SKI):c.435G>C (p.Glu145Asp)
|
rs1221007732
|
0.00001
|
NM_003036.4(SKI):c.464C>G (p.Ala155Gly)
|
rs559020511
|
0.00001
|
NM_003036.4(SKI):c.562G>A (p.Ala188Thr)
|
rs377092419
|
0.00001
|
NM_003036.4(SKI):c.919G>A (p.Val307Met)
|
rs775192483
|
0.00001
|
NM_003036.4(SKI):c.925G>A (p.Glu309Lys)
|
rs1553190080
|
0.00001
|
NM_003238.6(TGFB2):c.1052C>T (p.Pro351Leu)
|
rs773943154
|
0.00001
|
NM_003238.6(TGFB2):c.1057T>G (p.Leu353Val)
|
rs777045186
|
0.00001
|
NM_003238.6(TGFB2):c.1141G>A (p.Val381Met)
|
rs376159002
|
0.00001
|
NM_003238.6(TGFB2):c.209T>C (p.Ile70Thr)
|
rs1027195424
|
0.00001
|
NM_003238.6(TGFB2):c.236A>G (p.Gln79Arg)
|
rs371241859
|
0.00001
|
NM_003238.6(TGFB2):c.362C>G (p.Thr121Ser)
|
rs1300823855
|
0.00001
|
NM_003238.6(TGFB2):c.474A>T (p.Lys158Asn)
|
rs775251473
|
0.00001
|
NM_003238.6(TGFB2):c.493C>T (p.Arg165Trp)
|
rs773820426
|
0.00001
|
NM_003238.6(TGFB2):c.526G>A (p.Asp176Asn)
|
rs1571901046
|
0.00001
|
NM_003238.6(TGFB2):c.548G>A (p.Arg183His)
|
rs773177511
|
0.00001
|
NM_003238.6(TGFB2):c.589G>A (p.Glu197Lys)
|
rs764028978
|
0.00001
|
NM_003238.6(TGFB2):c.764G>A (p.Gly255Asp)
|
rs781514831
|
0.00001
|
NM_003238.6(TGFB2):c.773C>T (p.Thr258Ile)
|
rs373352179
|
0.00001
|
NM_003238.6(TGFB2):c.775T>G (p.Tyr259Asp)
|
rs1212341043
|
0.00001
|
NM_003238.6(TGFB2):c.918G>A (p.Ala306=)
|
rs767936611
|
0.00001
|
NM_003239.5(TGFB3):c.1054C>T (p.Arg352Cys)
|
rs749485028
|
0.00001
|
NM_003239.5(TGFB3):c.1076G>C (p.Ser359Thr)
|
rs1474531974
|
0.00001
|
NM_003239.5(TGFB3):c.1079C>T (p.Thr360Met)
|
rs750299821
|
0.00001
|
NM_003239.5(TGFB3):c.10C>T (p.His4Tyr)
|
rs997664741
|
0.00001
|
NM_003239.5(TGFB3):c.11A>G (p.His4Arg)
|
rs371772819
|
0.00001
|
NM_003239.5(TGFB3):c.16C>G (p.Gln6Glu)
|
rs367967889
|
0.00001
|
NM_003239.5(TGFB3):c.223A>G (p.Ser75Gly)
|
rs778796326
|
0.00001
|
NM_003239.5(TGFB3):c.230G>A (p.Arg77Gln)
|
rs1036545575
|
0.00001
|
NM_003239.5(TGFB3):c.289G>A (p.Glu97Lys)
|
rs769627183
|
0.00001
|
NM_003239.5(TGFB3):c.389A>G (p.Lys130Arg)
|
rs780051351
|
0.00001
|
NM_003239.5(TGFB3):c.443G>A (p.Arg148Gln)
|
rs776388495
|
0.00001
|
NM_003239.5(TGFB3):c.487C>T (p.Arg163Trp)
|
rs142601521
|
0.00001
|
NM_003239.5(TGFB3):c.580C>T (p.Arg194Trp)
|
rs368004396
|
0.00001
|
NM_003239.5(TGFB3):c.730G>A (p.Glu244Lys)
|
rs1085307755
|
0.00001
|
NM_003239.5(TGFB3):c.755-5T>C
|
rs768188445
|
0.00001
|
NM_003239.5(TGFB3):c.812A>G (p.Lys271Arg)
|
rs2035183279
|
0.00001
|
NM_003239.5(TGFB3):c.82A>C (p.Thr28Pro)
|
rs564013964
|
0.00001
|
NM_003239.5(TGFB3):c.878A>C (p.Gln293Pro)
|
rs759234781
|
0.00001
|
NM_003239.5(TGFB3):c.914A>G (p.Asn305Ser)
|
rs369281541
|
0.00001
|
NM_003239.5(TGFB3):c.927-4G>A
|
rs201637508
|
0.00001
|
NM_003239.5(TGFB3):c.94T>A (p.Phe32Ile)
|
rs1194816649
|
0.00001
|
NM_003239.5(TGFB3):c.965T>C (p.Ile322Thr)
|
rs762643638
|
0.00001
|
NM_003242.6(TGFBR2):c.*1201C>T
|
rs886058318
|
0.00001
|
NM_003242.6(TGFBR2):c.*1998G>A
|
rs886058325
|
0.00001
|
NM_003242.6(TGFBR2):c.-117G>A
|
rs886058302
|
0.00001
|
NM_003242.6(TGFBR2):c.1016G>A (p.Arg339Gln)
|
rs727503473
|
0.00001
|
NM_003242.6(TGFBR2):c.1067G>A (p.Arg356Gln)
|
rs727504292
|
0.00001
|
NM_003242.6(TGFBR2):c.1153A>G (p.Ile385Val)
|
rs137908708
|
0.00001
|
NM_003242.6(TGFBR2):c.115A>T (p.Thr39Ser)
|
rs780280433
|
0.00001
|
NM_003242.6(TGFBR2):c.1207C>T (p.Arg403Cys)
|
rs886038960
|
0.00001
|
NM_003242.6(TGFBR2):c.1217C>T (p.Pro406Leu)
|
rs748480163
|
0.00001
|
NM_003242.6(TGFBR2):c.1222C>A (p.Leu408Met)
|
rs770352403
|
0.00001
|
NM_003242.6(TGFBR2):c.1254+6T>A
|
rs1026852885
|
0.00001
|
NM_003242.6(TGFBR2):c.1397A>T (p.Glu466Val)
|
rs1321865816
|
0.00001
|
NM_003242.6(TGFBR2):c.1431G>C (p.Lys477Asn)
|
rs1182402824
|
0.00001
|
NM_003242.6(TGFBR2):c.1435C>T (p.Arg479Trp)
|
rs1444024775
|
0.00001
|
NM_003242.6(TGFBR2):c.1471G>A (p.Val491Met)
|
rs754176932
|
0.00001
|
NM_003242.6(TGFBR2):c.1484G>A (p.Arg495Gln)
|
rs1305853447
|
0.00001
|
NM_003242.6(TGFBR2):c.1517A>G (p.Asn506Ser)
|
rs780087626
|
0.00001
|
NM_003242.6(TGFBR2):c.1519C>T (p.His507Tyr)
|
rs747068726
|
0.00001
|
NM_003242.6(TGFBR2):c.1525-10C>G
|
rs747069454
|
0.00001
|
NM_003242.6(TGFBR2):c.1525-3C>T
|
rs774254584
|
0.00001
|
NM_003242.6(TGFBR2):c.1546A>T (p.Thr516Ser)
|
rs370708687
|
0.00001
|
NM_003242.6(TGFBR2):c.1547C>T (p.Thr516Met)
|
rs149847376
|
0.00001
|
NM_003242.6(TGFBR2):c.1643C>T (p.Ser548Leu)
|
rs755070814
|
0.00001
|
NM_003242.6(TGFBR2):c.1645G>T (p.Gly549Trp)
|
rs748418894
|
0.00001
|
NM_003242.6(TGFBR2):c.1658C>T (p.Ser553Leu)
|
rs569635708
|
0.00001
|
NM_003242.6(TGFBR2):c.1681G>A (p.Gly561Ser)
|
rs768103695
|
0.00001
|
NM_003242.6(TGFBR2):c.179C>T (p.Thr60Ile)
|
rs1698701633
|
0.00001
|
NM_003242.6(TGFBR2):c.352T>C (p.Ser118Pro)
|
rs540920930
|
0.00001
|
NM_003242.6(TGFBR2):c.403A>G (p.Met135Val)
|
rs377455599
|
0.00001
|
NM_003242.6(TGFBR2):c.43G>T (p.Val15Phe)
|
rs1182907194
|
0.00001
|
NM_003242.6(TGFBR2):c.448T>C (p.Ser150Pro)
|
rs1346274891
|
0.00001
|
NM_003242.6(TGFBR2):c.469A>T (p.Asn157Tyr)
|
rs1203996192
|
0.00001
|
NM_003242.6(TGFBR2):c.505G>C (p.Gly169Arg)
|
rs759362407
|
0.00001
|
NM_003242.6(TGFBR2):c.556T>A (p.Phe186Ile)
|
rs368346624
|
0.00001
|
NM_003242.6(TGFBR2):c.578G>A (p.Arg193Gln)
|
rs748437880
|
0.00001
|
NM_003242.6(TGFBR2):c.596C>T (p.Ser199Leu)
|
rs1431838247
|
0.00001
|
NM_003242.6(TGFBR2):c.610G>A (p.Gly204Ser)
|
rs773431795
|
0.00001
|
NM_003242.6(TGFBR2):c.619C>T (p.Arg207Trp)
|
rs775640617
|
0.00001
|
NM_003242.6(TGFBR2):c.621G>A (p.Arg207=)
|
rs886058304
|
0.00001
|
NM_003242.6(TGFBR2):c.640G>A (p.Glu214Lys)
|
rs764821003
|
0.00001
|
NM_003242.6(TGFBR2):c.644A>G (p.His215Arg)
|
rs1252128858
|
0.00001
|
NM_003242.6(TGFBR2):c.670C>T (p.Arg224Cys)
|
rs748195637
|
0.00001
|
NM_003242.6(TGFBR2):c.740A>T (p.Asp247Val)
|
rs761231369
|
0.00001
|
NM_003242.6(TGFBR2):c.76C>T (p.Pro26Ser)
|
rs764160271
|
0.00001
|
NM_003242.6(TGFBR2):c.776A>G (p.Tyr259Cys)
|
rs767919854
|
0.00001
|
NM_003242.6(TGFBR2):c.782C>T (p.Ala261Val)
|
rs1699347160
|
0.00001
|
NM_003242.6(TGFBR2):c.803C>T (p.Ser268Leu)
|
rs139078984
|
0.00001
|
NM_003242.6(TGFBR2):c.842A>G (p.Tyr281Cys)
|
rs1210616464
|
0.00001
|
NM_003242.6(TGFBR2):c.851A>G (p.Tyr284Cys)
|
rs374708133
|
0.00001
|
NM_003242.6(TGFBR2):c.94+6T>G
|
rs1269699495
|
0.00001
|
NM_003242.6(TGFBR2):c.95-2A>G
|
rs779131465
|
0.00001
|
NM_003242.6(TGFBR2):c.953G>C (p.Gly318Ala)
|
rs754785934
|
0.00001
|
NM_003242.6(TGFBR2):c.962A>G (p.Tyr321Cys)
|
rs1553630191
|
0.00001
|
NM_004612.4(TGFBR1):c.*2791G>A
|
rs201846922
|
0.00001
|
NM_004612.4(TGFBR1):c.*2833G>A
|
rs200520116
|
0.00001
|
NM_004612.4(TGFBR1):c.*2880C>A
|
rs886063247
|
0.00001
|
NM_004612.4(TGFBR1):c.*2T>C
|
rs922249989
|
0.00001
|
NM_004612.4(TGFBR1):c.*3056C>A
|
rs886063249
|
0.00001
|
NM_004612.4(TGFBR1):c.*3790C>T
|
rs201101442
|
0.00001
|
NM_004612.4(TGFBR1):c.*5A>G
|
rs201254457
|
0.00001
|
NM_004612.4(TGFBR1):c.-3A>G
|
rs1170998539
|
0.00001
|
NM_004612.4(TGFBR1):c.1022T>C (p.Val341Ala)
|
rs1162682079
|
0.00001
|
NM_004612.4(TGFBR1):c.1138G>C (p.Ala380Pro)
|
rs746666082
|
0.00001
|
NM_004612.4(TGFBR1):c.1139C>G (p.Ala380Gly)
|
rs746047431
|
0.00001
|
NM_004612.4(TGFBR1):c.1190A>G (p.Lys397Arg)
|
rs907536931
|
0.00001
|
NM_004612.4(TGFBR1):c.1205A>G (p.Tyr402Cys)
|
rs762486367
|
0.00001
|
NM_004612.4(TGFBR1):c.1211T>C (p.Met404Thr)
|
rs1241201708
|
0.00001
|
NM_004612.4(TGFBR1):c.1219G>T (p.Val407Leu)
|
rs146549837
|
0.00001
|
NM_004612.4(TGFBR1):c.1256-3C>T
|
rs755431191
|
0.00001
|
NM_004612.4(TGFBR1):c.1277T>G (p.Leu426Arg)
|
rs756570466
|
0.00001
|
NM_004612.4(TGFBR1):c.1357A>G (p.Asn453Asp)
|
rs1827844869
|
0.00001
|
NM_004612.4(TGFBR1):c.1386+6T>C
|
rs1375191528
|
0.00001
|
NM_004612.4(TGFBR1):c.1394G>A (p.Arg465Lys)
|
rs556555554
|
0.00001
|
NM_004612.4(TGFBR1):c.1425G>T (p.Trp475Cys)
|
rs767589799
|
0.00001
|
NM_004612.4(TGFBR1):c.1435G>A (p.Gly479Arg)
|
rs377194685
|
0.00001
|
NM_004612.4(TGFBR1):c.187G>A (p.Asp63Asn)
|
rs200779997
|
0.00001
|
NM_004612.4(TGFBR1):c.220G>A (p.Glu74Lys)
|
rs998268148
|
0.00001
|
NM_004612.4(TGFBR1):c.222A>C (p.Glu74Asp)
|
rs201910738
|
0.00001
|
NM_004612.4(TGFBR1):c.304A>G (p.Asn102Asp)
|
rs769320006
|
0.00001
|
NM_004612.4(TGFBR1):c.32G>C (p.Arg11Pro)
|
rs886038980
|
0.00001
|
NM_004612.4(TGFBR1):c.376C>G (p.Leu126Val)
|
rs756586874
|
0.00001
|
NM_004612.4(TGFBR1):c.400G>A (p.Val134Met)
|
rs730880222
|
0.00001
|
NM_004612.4(TGFBR1):c.434T>G (p.Val145Gly)
|
rs775267361
|
0.00001
|
NM_004612.4(TGFBR1):c.451C>T (p.Arg151Cys)
|
rs776680716
|
0.00001
|
NM_004612.4(TGFBR1):c.479A>G (p.Asn160Ser)
|
rs767785290
|
0.00001
|
NM_004612.4(TGFBR1):c.502C>T (p.Arg168Cys)
|
rs1057519144
|
0.00001
|
NM_004612.4(TGFBR1):c.508T>G (p.Phe170Val)
|
rs1827278456
|
0.00001
|
NM_004612.4(TGFBR1):c.527C>T (p.Thr176Met)
|
rs745324433
|
0.00001
|
NM_004612.4(TGFBR1):c.52G>A (p.Ala18Thr)
|
rs1243596219
|
0.00001
|
NM_004612.4(TGFBR1):c.65C>T (p.Ala22Val)
|
rs1260360529
|
0.00001
|
NM_004612.4(TGFBR1):c.666A>G (p.Gly222=)
|
rs886063223
|
0.00001
|
NM_004612.4(TGFBR1):c.714A>C (p.Glu238Asp)
|
rs1827490717
|
0.00001
|
NM_004612.4(TGFBR1):c.718C>T (p.Arg240Cys)
|
rs775429965
|
0.00001
|
NM_004612.4(TGFBR1):c.844T>C (p.Tyr282His)
|
rs755827803
|
0.00001
|
NM_004612.4(TGFBR1):c.883T>A (p.Tyr295Asn)
|
rs200560562
|
0.00001
|
NM_004612.4(TGFBR1):c.889G>A (p.Val297Ile)
|
rs757284158
|
0.00001
|
NM_004612.4(TGFBR1):c.88G>C (p.Gly30Arg)
|
rs1826374374
|
0.00001
|
NM_004612.4(TGFBR1):c.89G>T (p.Gly30Val)
|
rs1381354900
|
0.00001
|
NM_004612.4(TGFBR1):c.97+14C>T
|
rs1198082830
|
0.00001
|
NM_004612.4(TGFBR1):c.977A>G (p.Lys326Arg)
|
rs863223834
|
0.00001
|
NM_005120.3(MED12):c.1039A>G (p.Ser347Gly)
|
rs752300879
|
0.00001
|
NM_005120.3(MED12):c.1253G>A (p.Arg418His)
|
rs1431487428
|
0.00001
|
NM_005120.3(MED12):c.1895G>A (p.Arg632Gln)
|
rs199582086
|
0.00001
|
NM_005120.3(MED12):c.1996A>G (p.Met666Val)
|
rs1401003961
|
0.00001
|
NM_005120.3(MED12):c.2128G>A (p.Val710Met)
|
rs797045697
|
0.00001
|
NM_005120.3(MED12):c.2312T>C (p.Ile771Thr)
|
rs778325168
|
0.00001
|
NM_005120.3(MED12):c.2341G>A (p.Val781Ile)
|
rs2092300526
|
0.00001
|
NM_005120.3(MED12):c.4021C>T (p.Arg1341Trp)
|
rs777250096
|
0.00001
|
NM_005120.3(MED12):c.4159A>G (p.Ile1387Val)
|
rs1366165823
|
0.00001
|
NM_005120.3(MED12):c.4635C>G (p.Asp1545Glu)
|
rs151316557
|
0.00001
|
NM_005120.3(MED12):c.5198G>A (p.Arg1733Gln)
|
rs754537871
|
0.00001
|
NM_005120.3(MED12):c.5206G>A (p.Ala1736Thr)
|
rs1042718707
|
0.00001
|
NM_005120.3(MED12):c.5258C>T (p.Ala1753Val)
|
rs1246253918
|
0.00001
|
NM_005120.3(MED12):c.6017A>C (p.Tyr2006Ser)
|
rs769232520
|
0.00001
|
NM_005120.3(MED12):c.6124G>A (p.Val2042Ile)
|
rs755577187
|
0.00001
|
NM_005120.3(MED12):c.6186G>C (p.Gln2062His)
|
rs1362044936
|
0.00001
|
NM_005120.3(MED12):c.872C>A (p.Ala291Glu)
|
rs754533515
|
0.00001
|
NM_005902.4(SMAD3):c.*1819C>T
|
rs886051406
|
0.00001
|
NM_005902.4(SMAD3):c.*4C>T
|
rs1252748287
|
0.00001
|
NM_005902.4(SMAD3):c.*6del
|
rs772778568
|
0.00001
|
NM_005902.4(SMAD3):c.*925G>A
|
rs886051389
|
0.00001
|
NM_005902.4(SMAD3):c.-10C>T
|
rs777303695
|
0.00001
|
NM_005902.4(SMAD3):c.1009+5A>C
|
rs772995932
|
0.00001
|
NM_005902.4(SMAD3):c.1009+6C>T
|
rs749052145
|
0.00001
|
NM_005902.4(SMAD3):c.1010-10T>C
|
rs1179340088
|
0.00001
|
NM_005902.4(SMAD3):c.1010-12T>C
|
rs773629535
|
0.00001
|
NM_005902.4(SMAD3):c.1129G>A (p.Val377Ile)
|
rs730880216
|
0.00001
|
NM_005902.4(SMAD3):c.175A>G (p.Asn59Asp)
|
rs745387614
|
0.00001
|
NM_005902.4(SMAD3):c.179T>C (p.Val60Ala)
|
rs1242358787
|
0.00001
|
NM_005902.4(SMAD3):c.189G>C (p.Lys63Asn)
|
rs1555405116
|
0.00001
|
NM_005902.4(SMAD3):c.207-3C>A
|
rs757772685
|
0.00001
|
NM_005902.4(SMAD3):c.239G>A (p.Arg80Gln)
|
rs758823376
|
0.00001
|
NM_005902.4(SMAD3):c.341A>G (p.Asn114Ser)
|
rs369221296
|
0.00001
|
NM_005902.4(SMAD3):c.34G>T (p.Val12Leu)
|
rs1390289135
|
0.00001
|
NM_005902.4(SMAD3):c.355G>A (p.Glu119Lys)
|
rs1165259401
|
0.00001
|
NM_005902.4(SMAD3):c.391G>C (p.Glu131Gln)
|
rs750982529
|
0.00001
|
NM_005902.4(SMAD3):c.401T>C (p.Val134Ala)
|
rs863223767
|
0.00001
|
NM_005902.4(SMAD3):c.424C>T (p.Arg142Cys)
|
rs1253901433
|
0.00001
|
NM_005902.4(SMAD3):c.455C>A (p.Pro152Gln)
|
rs375574124
|
0.00001
|
NM_005902.4(SMAD3):c.502G>A (p.Ala168Thr)
|
rs548756379
|
0.00001
|
NM_005902.4(SMAD3):c.575G>C (p.Ser192Thr)
|
rs1264997614
|
0.00001
|
NM_005902.4(SMAD3):c.597C>T (p.Ser199=)
|
rs769225687
|
0.00001
|
NM_005902.4(SMAD3):c.604G>A (p.Ala202Thr)
|
rs760091844
|
0.00001
|
NM_005902.4(SMAD3):c.607+5G>T
|
rs772419612
|
0.00001
|
NM_005902.4(SMAD3):c.613C>T (p.Pro205Ser)
|
rs150682850
|
0.00001
|
NM_005902.4(SMAD3):c.643G>A (p.Ala215Thr)
|
rs1962721856
|
0.00001
|
NM_005902.4(SMAD3):c.657G>C (p.Leu219Phe)
|
rs886038567
|
0.00001
|
NM_005902.4(SMAD3):c.784G>A (p.Asp262Asn)
|
rs1201995588
|
0.00001
|
NM_005902.4(SMAD3):c.797C>T (p.Ser266Leu)
|
rs753486471
|
0.00001
|
NM_005902.4(SMAD3):c.798G>A (p.Ser266=)
|
rs761391442
|
0.00001
|
NM_005902.4(SMAD3):c.883C>T (p.Arg295Trp)
|
rs1399970718
|
0.00001
|
NM_005902.4(SMAD3):c.913G>A (p.Ala305Thr)
|
rs1348033858
|
0.00001
|
NM_005902.4(SMAD3):c.964C>A (p.Gln322Lys)
|
rs1963178887
|
0.00001
|
NM_005902.4(SMAD3):c.991G>A (p.Val331Ile)
|
rs1320208623
|
0.00001
|
NM_005911.6(MAT2A):c.1049A>T (p.Lys350Met)
|
rs371262419
|
0.00001
|
NM_005911.6(MAT2A):c.11A>C (p.Gln4Pro)
|
rs756268499
|
0.00001
|
NM_005911.6(MAT2A):c.17A>G (p.Asn6Ser)
|
rs779310038
|
0.00001
|
NM_005911.6(MAT2A):c.377A>G (p.Asn126Ser)
|
rs770828359
|
0.00001
|
NM_005911.6(MAT2A):c.511G>A (p.Gly171Ser)
|
rs767382347
|
0.00001
|
NM_005911.6(MAT2A):c.952-3T>C
|
rs367778290
|
0.00001
|
NM_006258.4(PRKG1):c.1106A>G (p.Asn369Ser)
|
rs775372704
|
0.00001
|
NM_006258.4(PRKG1):c.1173+4G>A
|
rs886039153
|
0.00001
|
NM_006258.4(PRKG1):c.1300G>A (p.Asp434Asn)
|
rs371044753
|
0.00001
|
NM_006258.4(PRKG1):c.1391T>C (p.Ile464Thr)
|
rs1008442154
|
0.00001
|
NM_006258.4(PRKG1):c.1811A>C (p.Asn604Thr)
|
rs886039042
|
0.00001
|
NM_006258.4(PRKG1):c.1879G>T (p.Asp627Tyr)
|
rs1428272946
|
0.00001
|
NM_006258.4(PRKG1):c.2053G>C (p.Asp685His)
|
rs1398800687
|
0.00001
|
NM_006258.4(PRKG1):c.395A>G (p.Asp132Gly)
|
rs140871298
|
0.00001
|
NM_006258.4(PRKG1):c.619A>G (p.Ile207Val)
|
rs1235083176
|
0.00001
|
NM_006258.4(PRKG1):c.676G>A (p.Glu226Lys)
|
rs751351827
|
0.00001
|
NM_017617.5(NOTCH1):c.1007T>C (p.Ile336Thr)
|
rs753734433
|
0.00001
|
NM_017617.5(NOTCH1):c.1096A>G (p.Thr366Ala)
|
rs1554730065
|
0.00001
|
NM_017617.5(NOTCH1):c.1100-7T>C
|
rs376603720
|
0.00001
|
NM_017617.5(NOTCH1):c.1214C>T (p.Thr405Met)
|
rs370746889
|
0.00001
|
NM_017617.5(NOTCH1):c.1220C>T (p.Pro407Leu)
|
rs754529382
|
0.00001
|
NM_017617.5(NOTCH1):c.1237G>A (p.Val413Met)
|
rs373770404
|
0.00001
|
NM_017617.5(NOTCH1):c.1256-5G>A
|
rs773981257
|
0.00001
|
NM_017617.5(NOTCH1):c.1309G>A (p.Glu437Lys)
|
rs1060502238
|
0.00001
|
NM_017617.5(NOTCH1):c.157G>A (p.Val53Met)
|
rs757497167
|
0.00001
|
NM_017617.5(NOTCH1):c.1669+5G>A
|
rs771590616
|
0.00001
|
NM_017617.5(NOTCH1):c.1750G>A (p.Val584Ile)
|
rs763886355
|
0.00001
|
NM_017617.5(NOTCH1):c.1775G>A (p.Arg592His)
|
rs544117297
|
0.00001
|
NM_017617.5(NOTCH1):c.1778C>T (p.Pro593Leu)
|
rs886039014
|
0.00001
|
NM_017617.5(NOTCH1):c.1838G>A (p.Arg613His)
|
rs369522885
|
0.00001
|
NM_017617.5(NOTCH1):c.1843G>A (p.Gly615Arg)
|
rs764942073
|
0.00001
|
NM_017617.5(NOTCH1):c.1972A>G (p.Lys658Glu)
|
rs1260932753
|
0.00001
|
NM_017617.5(NOTCH1):c.1987G>A (p.Glu663Lys)
|
rs548000491
|
0.00001
|
NM_017617.5(NOTCH1):c.2038G>A (p.Asp680Asn)
|
rs749761941
|
0.00001
|
NM_017617.5(NOTCH1):c.2074A>G (p.Thr692Ala)
|
rs1385815860
|
0.00001
|
NM_017617.5(NOTCH1):c.2093A>G (p.Asn698Ser)
|
rs1338004985
|
0.00001
|
NM_017617.5(NOTCH1):c.211G>A (p.Ala71Thr)
|
rs753106233
|
0.00001
|
NM_017617.5(NOTCH1):c.2501C>T (p.Ala834Val)
|
rs202144877
|
0.00001
|
NM_017617.5(NOTCH1):c.2510C>G (p.Pro837Arg)
|
rs777663026
|
0.00001
|
NM_017617.5(NOTCH1):c.2564G>A (p.Cys855Tyr)
|
rs759862433
|
0.00001
|
NM_017617.5(NOTCH1):c.2611A>G (p.Asn871Asp)
|
rs200235006
|
0.00001
|
NM_017617.5(NOTCH1):c.2644G>A (p.Ala882Thr)
|
rs767886377
|
0.00001
|
NM_017617.5(NOTCH1):c.2753A>G (p.Asn918Ser)
|
rs367586502
|
0.00001
|
NM_017617.5(NOTCH1):c.2869G>A (p.Gly957Arg)
|
rs773902766
|
0.00001
|
NM_017617.5(NOTCH1):c.2882C>T (p.Thr961Met)
|
rs377343669
|
0.00001
|
NM_017617.5(NOTCH1):c.3061G>A (p.Asp1021Asn)
|
rs760908627
|
0.00001
|
NM_017617.5(NOTCH1):c.3068A>G (p.Asn1023Ser)
|
rs937138982
|
0.00001
|
NM_017617.5(NOTCH1):c.3095A>G (p.His1032Arg)
|
rs1397562033
|
0.00001
|
NM_017617.5(NOTCH1):c.3100G>A (p.Gly1034Ser)
|
rs981281975
|
0.00001
|
NM_017617.5(NOTCH1):c.3142C>T (p.Pro1048Ser)
|
rs770521856
|
0.00001
|
NM_017617.5(NOTCH1):c.3160C>A (p.Pro1054Thr)
|
rs1018501056
|
0.00001
|
NM_017617.5(NOTCH1):c.3214G>A (p.Gly1072Ser)
|
rs780582836
|
0.00001
|
NM_017617.5(NOTCH1):c.3244C>T (p.Arg1082Cys)
|
rs1386494518
|
0.00001
|
NM_017617.5(NOTCH1):c.3350A>G (p.Gln1117Arg)
|
rs764816819
|
0.00001
|
NM_017617.5(NOTCH1):c.3404C>T (p.Ala1135Val)
|
rs370300490
|
0.00001
|
NM_017617.5(NOTCH1):c.3496G>A (p.Gly1166Ser)
|
rs754815022
|
0.00001
|
NM_017617.5(NOTCH1):c.3529G>A (p.Gly1177Arg)
|
rs754086177
|
0.00001
|
NM_017617.5(NOTCH1):c.3569A>G (p.His1190Arg)
|
rs775438678
|
0.00001
|
NM_017617.5(NOTCH1):c.3632G>A (p.Arg1211Gln)
|
rs756362905
|
0.00001
|
NM_017617.5(NOTCH1):c.3643+9C>T
|
rs764985096
|
0.00001
|
NM_017617.5(NOTCH1):c.3685G>A (p.Val1229Ile)
|
rs766198119
|
0.00001
|
NM_017617.5(NOTCH1):c.3694G>A (p.Val1232Met)
|
rs750169914
|
0.00001
|
NM_017617.5(NOTCH1):c.3954T>A (p.Asn1318Lys)
|
rs754634957
|
0.00001
|
NM_017617.5(NOTCH1):c.3991G>A (p.Gly1331Arg)
|
rs769908800
|
0.00001
|
NM_017617.5(NOTCH1):c.4010C>G (p.Pro1337Arg)
|
rs1043832212
|
0.00001
|
NM_017617.5(NOTCH1):c.4024G>A (p.Gly1342Ser)
|
rs748933222
|
0.00001
|
NM_017617.5(NOTCH1):c.4237C>A (p.Arg1413Ser)
|
rs1348438354
|
0.00001
|
NM_017617.5(NOTCH1):c.4309G>A (p.Gly1437Arg)
|
rs780500109
|
0.00001
|
NM_017617.5(NOTCH1):c.4451A>G (p.Asn1484Ser)
|
rs759828439
|
0.00001
|
NM_017617.5(NOTCH1):c.4472C>T (p.Thr1491Met)
|
rs369915496
|
0.00001
|
NM_017617.5(NOTCH1):c.452A>G (p.Asn151Ser)
|
rs766362765
|
0.00001
|
NM_017617.5(NOTCH1):c.4568G>A (p.Arg1523His)
|
rs367589813
|
0.00001
|
NM_017617.5(NOTCH1):c.4588C>T (p.Pro1530Ser)
|
rs750808945
|
0.00001
|
NM_017617.5(NOTCH1):c.4663G>A (p.Glu1555Lys)
|
rs746342893
|
0.00001
|
NM_017617.5(NOTCH1):c.4742C>T (p.Pro1581Leu)
|
rs746431035
|
0.00001
|
NM_017617.5(NOTCH1):c.4867G>A (p.Glu1623Lys)
|
rs187112709
|
0.00001
|
NM_017617.5(NOTCH1):c.4880G>A (p.Arg1627His)
|
rs946083212
|
0.00001
|
NM_017617.5(NOTCH1):c.4952C>T (p.Ser1651Leu)
|
rs1243453790
|
0.00001
|
NM_017617.5(NOTCH1):c.5092G>A (p.Asp1698Asn)
|
rs1417478070
|
0.00001
|
NM_017617.5(NOTCH1):c.5282G>A (p.Arg1761Gln)
|
rs750318685
|
0.00001
|
NM_017617.5(NOTCH1):c.5452C>G (p.Leu1818Val)
|
rs1064796983
|
0.00001
|
NM_017617.5(NOTCH1):c.5492T>C (p.Leu1831Pro)
|
rs1085307869
|
0.00001
|
NM_017617.5(NOTCH1):c.5560C>T (p.Arg1854Cys)
|
rs376689092
|
0.00001
|
NM_017617.5(NOTCH1):c.5572A>C (p.Met1858Leu)
|
rs779337715
|
0.00001
|
NM_017617.5(NOTCH1):c.5629C>T (p.Arg1877Cys)
|
rs1446708596
|
0.00001
|
NM_017617.5(NOTCH1):c.5690C>T (p.Thr1897Met)
|
rs746237272
|
0.00001
|
NM_017617.5(NOTCH1):c.5734G>A (p.Asp1912Asn)
|
rs375978224
|
0.00001
|
NM_017617.5(NOTCH1):c.581C>T (p.Thr194Ile)
|
rs760005580
|
0.00001
|
NM_017617.5(NOTCH1):c.6091G>A (p.Ala2031Thr)
|
rs932710972
|
0.00001
|
NM_017617.5(NOTCH1):c.613G>A (p.Val205Ile)
|
rs979299004
|
0.00001
|
NM_017617.5(NOTCH1):c.6223G>A (p.Glu2075Lys)
|
rs549258808
|
0.00001
|
NM_017617.5(NOTCH1):c.6259C>T (p.Arg2087Trp)
|
rs373806373
|
0.00001
|
NM_017617.5(NOTCH1):c.6260G>A (p.Arg2087Gln)
|
rs768543030
|
0.00001
|
NM_017617.5(NOTCH1):c.632C>G (p.Thr211Ser)
|
rs1401319182
|
0.00001
|
NM_017617.5(NOTCH1):c.6350A>C (p.Asn2117Thr)
|
rs765820020
|
0.00001
|
NM_017617.5(NOTCH1):c.6401C>T (p.Thr2134Ile)
|
rs1249825304
|
0.00001
|
NM_017617.5(NOTCH1):c.6422C>T (p.Ser2141Leu)
|
rs767822693
|
0.00001
|
NM_017617.5(NOTCH1):c.6476G>A (p.Arg2159His)
|
rs1060502233
|
0.00001
|
NM_017617.5(NOTCH1):c.649C>T (p.Arg217Trp)
|
rs757003332
|
0.00001
|
NM_017617.5(NOTCH1):c.6503G>A (p.Cys2168Tyr)
|
rs1055326153
|
0.00001
|
NM_017617.5(NOTCH1):c.6593C>T (p.Ser2198Leu)
|
rs761562076
|
0.00001
|
NM_017617.5(NOTCH1):c.6637G>A (p.Val2213Met)
|
rs376241938
|
0.00001
|
NM_017617.5(NOTCH1):c.6743A>C (p.Asn2248Thr)
|
rs1554826464
|
0.00001
|
NM_017617.5(NOTCH1):c.674C>G (p.Ser225Trp)
|
rs553542677
|
0.00001
|
NM_017617.5(NOTCH1):c.6781G>T (p.Gly2261Cys)
|
rs768817065
|
0.00001
|
NM_017617.5(NOTCH1):c.68G>C (p.Arg23Pro)
|
rs869025260
|
0.00001
|
NM_017617.5(NOTCH1):c.7033G>A (p.Gly2345Ser)
|
rs1325758824
|
0.00001
|
NM_017617.5(NOTCH1):c.7046C>T (p.Pro2349Leu)
|
rs540165156
|
0.00001
|
NM_017617.5(NOTCH1):c.7138G>A (p.Val2380Met)
|
rs769693988
|
0.00001
|
NM_017617.5(NOTCH1):c.7150C>G (p.Gln2384Glu)
|
rs375119074
|
0.00001
|
NM_017617.5(NOTCH1):c.7188C>G (p.Asn2396Lys)
|
rs1842917968
|
0.00001
|
NM_017617.5(NOTCH1):c.7291C>T (p.Arg2431Trp)
|
rs758410389
|
0.00001
|
NM_017617.5(NOTCH1):c.7430C>T (p.Thr2477Ile)
|
rs1373474592
|
0.00001
|
NM_017617.5(NOTCH1):c.7545G>T (p.Glu2515Asp)
|
rs1365732147
|
0.00001
|
NM_017617.5(NOTCH1):c.7568C>T (p.Ser2523Leu)
|
rs1554826328
|
0.00001
|
NM_017617.5(NOTCH1):c.7631A>G (p.Gln2544Arg)
|
rs764749582
|
0.00001
|
NM_017617.5(NOTCH1):c.7642G>A (p.Ala2548Thr)
|
rs761156723
|
0.00001
|
NM_017617.5(NOTCH1):c.79C>A (p.Pro27Thr)
|
rs769784635
|
0.00001
|
NM_017617.5(NOTCH1):c.949G>A (p.Gly317Ser)
|
rs749696049
|
0.00001
|
NM_017668.3(NDE1):c.*593A>G
|
rs770305005
|
0.00001
|
NM_017668.3(NDE1):c.947+11990G>A
|
rs745371874
|
0.00001
|
NM_017668.3(NDE1):c.947+6327G>A
|
rs886051727
|
0.00001
|
NM_017668.3(NDE1):c.947+6742G>C
|
rs886051734
|
0.00001
|
NM_017668.3(NDE1):c.947+7127T>C
|
rs376561783
|
0.00001
|
NM_017668.3(NDE1):c.948-3365C>T
|
rs374628714
|
0.00001
|
NM_017668.3(NDE1):c.948-36C>T
|
rs530881888
|
0.00001
|
NM_017668.3(NDE1):c.948-3872G>A
|
rs375652279
|
0.00001
|
NM_017668.3(NDE1):c.948-9288C>G
|
rs766417351
|
0.00001
|
NM_017668.3(NDE1):c.965G>A (p.Arg322His)
|
rs766841864
|
0.00001
|
NM_017668.3(NDE1):c.973T>C (p.Ser325Pro)
|
rs919816656
|
0.00001
|
NM_017668.3(NDE1):c.998G>C (p.Ser333Thr)
|
rs753916027
|
0.00001
|
NM_030777.4(SLC2A10):c.1274T>C (p.Phe425Ser)
|
rs546176728
|
0.00001
|
NM_030777.4(SLC2A10):c.1423T>G (p.Leu475Val)
|
rs754355572
|
0.00001
|
NM_030777.4(SLC2A10):c.142G>C (p.Glu48Gln)
|
rs1252274574
|
0.00001
|
NM_030777.4(SLC2A10):c.1457C>A (p.Ala486Asp)
|
rs775211875
|
0.00001
|
NM_030777.4(SLC2A10):c.170G>T (p.Gly57Val)
|
rs369796310
|
0.00001
|
NM_030777.4(SLC2A10):c.367G>A (p.Val123Met)
|
rs770619266
|
0.00001
|
NM_030777.4(SLC2A10):c.455C>T (p.Ala152Val)
|
rs775987124
|
0.00001
|
NM_030777.4(SLC2A10):c.501G>A (p.Met167Ile)
|
rs763979126
|
0.00001
|
NM_030777.4(SLC2A10):c.601C>T (p.Leu201Phe)
|
rs199861432
|
0.00001
|
NM_030777.4(SLC2A10):c.646T>A (p.Tyr216Asn)
|
rs1269438372
|
0.00001
|
NM_030777.4(SLC2A10):c.886C>T (p.Arg296Cys)
|
rs552106000
|
0.00001
|
NM_053025.4(MYLK):c.1028G>T (p.Ser343Ile)
|
rs961194527
|
0.00001
|
NM_053025.4(MYLK):c.1271A>T (p.Glu424Val)
|
rs779309547
|
0.00001
|
NM_053025.4(MYLK):c.1330G>A (p.Glu444Lys)
|
rs766381045
|
0.00001
|
NM_053025.4(MYLK):c.1334T>G (p.Val445Gly)
|
rs760407806
|
0.00001
|
NM_053025.4(MYLK):c.1413C>G (p.Tyr471Ter)
|
rs751748077
|
0.00001
|
NM_053025.4(MYLK):c.1432C>T (p.Arg478Trp)
|
rs200059795
|
0.00001
|
NM_053025.4(MYLK):c.146C>T (p.Thr49Ile)
|
rs1337572355
|
0.00001
|
NM_053025.4(MYLK):c.1472A>G (p.Asn491Ser)
|
rs149802186
|
0.00001
|
NM_053025.4(MYLK):c.1496G>C (p.Ser499Thr)
|
rs886039189
|
0.00001
|
NM_053025.4(MYLK):c.1525G>A (p.Val509Met)
|
rs532203771
|
0.00001
|
NM_053025.4(MYLK):c.1528A>T (p.Met510Leu)
|
rs368575789
|
0.00001
|
NM_053025.4(MYLK):c.1566C>A (p.Asp522Glu)
|
rs1262457848
|
0.00001
|
NM_053025.4(MYLK):c.161G>A (p.Gly54Glu)
|
rs767453947
|
0.00001
|
NM_053025.4(MYLK):c.1630C>T (p.Arg544Trp)
|
rs552998417
|
0.00001
|
NM_053025.4(MYLK):c.1669G>A (p.Ala557Thr)
|
rs143403855
|
0.00001
|
NM_053025.4(MYLK):c.1745C>A (p.Thr582Asn)
|
rs749069560
|
0.00001
|
NM_053025.4(MYLK):c.1865C>G (p.Ala622Gly)
|
rs748628438
|
0.00001
|
NM_053025.4(MYLK):c.1952C>T (p.Pro651Leu)
|
rs555029377
|
0.00001
|
NM_053025.4(MYLK):c.2069C>T (p.Thr690Met)
|
rs368417112
|
0.00001
|
NM_053025.4(MYLK):c.2075C>T (p.Thr692Met)
|
rs776858093
|
0.00001
|
NM_053025.4(MYLK):c.208G>A (p.Gly70Arg)
|
rs779602599
|
0.00001
|
NM_053025.4(MYLK):c.2182C>T (p.Arg728Cys)
|
rs143468713
|
0.00001
|
NM_053025.4(MYLK):c.2227G>A (p.Ala743Thr)
|
rs145191000
|
0.00001
|
NM_053025.4(MYLK):c.2291A>G (p.Asp764Gly)
|
rs763243524
|
0.00001
|
NM_053025.4(MYLK):c.2368G>A (p.Gly790Ser)
|
rs554791878
|
0.00001
|
NM_053025.4(MYLK):c.2396G>A (p.Arg799Gln)
|
rs1435664878
|
0.00001
|
NM_053025.4(MYLK):c.2398G>T (p.Val800Phe)
|
rs758697820
|
0.00001
|
NM_053025.4(MYLK):c.2415C>G (p.Cys805Trp)
|
rs372019566
|
0.00001
|
NM_053025.4(MYLK):c.2462+3G>A
|
rs893899992
|
0.00001
|
NM_053025.4(MYLK):c.2462G>A (p.Arg821Gln)
|
rs745500351
|
0.00001
|
NM_053025.4(MYLK):c.250G>A (p.Gly84Ser)
|
rs568619953
|
0.00001
|
NM_053025.4(MYLK):c.263C>G (p.Thr88Ser)
|
rs1285946380
|
0.00001
|
NM_053025.4(MYLK):c.2663G>A (p.Arg888His)
|
rs528507616
|
0.00001
|
NM_053025.4(MYLK):c.2741A>G (p.Asp914Gly)
|
rs544456463
|
0.00001
|
NM_053025.4(MYLK):c.2776C>T (p.Arg926Cys)
|
rs766824318
|
0.00001
|
NM_053025.4(MYLK):c.2885C>A (p.Thr962Asn)
|
rs201266960
|
0.00001
|
NM_053025.4(MYLK):c.2899G>A (p.Val967Met)
|
rs201711566
|
0.00001
|
NM_053025.4(MYLK):c.2944C>T (p.Arg982Cys)
|
rs375731554
|
0.00001
|
NM_053025.4(MYLK):c.2978C>T (p.Ala993Val)
|
rs753339459
|
0.00001
|
NM_053025.4(MYLK):c.298G>A (p.Asp100Asn)
|
rs1060502535
|
0.00001
|
NM_053025.4(MYLK):c.2996G>T (p.Ser999Ile)
|
rs764348039
|
0.00001
|
NM_053025.4(MYLK):c.301del (p.Arg101fs)
|
rs1280842278
|
0.00001
|
NM_053025.4(MYLK):c.3020C>T (p.Ala1007Val)
|
rs1382043515
|
0.00001
|
NM_053025.4(MYLK):c.3022G>A (p.Val1008Met)
|
rs747305438
|
0.00001
|
NM_053025.4(MYLK):c.3052C>T (p.Gln1018Ter)
|
rs377568543
|
0.00001
|
NM_053025.4(MYLK):c.3172A>T (p.Asn1058Tyr)
|
rs748997552
|
0.00001
|
NM_053025.4(MYLK):c.319G>A (p.Glu107Lys)
|
rs2063223394
|
0.00001
|
NM_053025.4(MYLK):c.3203A>G (p.Lys1068Arg)
|
rs148033472
|
0.00001
|
NM_053025.4(MYLK):c.3472G>A (p.Glu1158Lys)
|
rs867887039
|
0.00001
|
NM_053025.4(MYLK):c.3479C>T (p.Ala1160Val)
|
rs1222534732
|
0.00001
|
NM_053025.4(MYLK):c.3545C>T (p.Ser1182Phe)
|
rs372251565
|
0.00001
|
NM_053025.4(MYLK):c.3695C>T (p.Pro1232Leu)
|
rs774553050
|
0.00001
|
NM_053025.4(MYLK):c.3844G>A (p.Glu1282Lys)
|
rs765252740
|
0.00001
|
NM_053025.4(MYLK):c.4093T>A (p.Ser1365Thr)
|
rs747543921
|
0.00001
|
NM_053025.4(MYLK):c.4105G>A (p.Glu1369Lys)
|
rs2059418764
|
0.00001
|
NM_053025.4(MYLK):c.4207C>T (p.Arg1403Cys)
|
rs748559781
|
0.00001
|
NM_053025.4(MYLK):c.4214G>A (p.Arg1405His)
|
rs745547260
|
0.00001
|
NM_053025.4(MYLK):c.4406G>A (p.Arg1469Lys)
|
rs761390691
|
0.00001
|
NM_053025.4(MYLK):c.4439G>A (p.Arg1480Gln)
|
rs1397757032
|
0.00001
|
NM_053025.4(MYLK):c.4520G>A (p.Arg1507Gln)
|
rs574296889
|
0.00001
|
NM_053025.4(MYLK):c.4620-5C>T
|
rs760680632
|
0.00001
|
NM_053025.4(MYLK):c.4625C>T (p.Ser1542Leu)
|
rs775096552
|
0.00001
|
NM_053025.4(MYLK):c.4790C>T (p.Thr1597Met)
|
rs763260112
|
0.00001
|
NM_053025.4(MYLK):c.47C>T (p.Ser16Phe)
|
rs1232197656
|
0.00001
|
NM_053025.4(MYLK):c.4936A>G (p.Ser1646Gly)
|
rs758272545
|
0.00001
|
NM_053025.4(MYLK):c.5237A>C (p.Gln1746Pro)
|
rs1226517649
|
0.00001
|
NM_053025.4(MYLK):c.5264T>C (p.Ile1755Thr)
|
rs759291796
|
0.00001
|
NM_053025.4(MYLK):c.535C>T (p.Arg179Ter)
|
rs761508149
|
0.00001
|
NM_053025.4(MYLK):c.5374G>A (p.Val1792Met)
|
rs746213310
|
0.00001
|
NM_053025.4(MYLK):c.5446C>T (p.Arg1816Cys)
|
rs369511530
|
0.00001
|
NM_053025.4(MYLK):c.5620G>A (p.Gly1874Arg)
|
rs532767014
|
0.00001
|
NM_053025.4(MYLK):c.571C>G (p.Gln191Glu)
|
rs794727880
|
0.00001
|
NM_053025.4(MYLK):c.593A>G (p.Asn198Ser)
|
rs201835018
|
0.00001
|
NM_053025.4(MYLK):c.616C>T (p.Arg206Cys)
|
rs557873884
|
0.00001
|
NM_053025.4(MYLK):c.673C>A (p.Gln225Lys)
|
rs148174313
|
0.00001
|
NM_053025.4(MYLK):c.706G>A (p.Val236Met)
|
rs923797303
|
0.00001
|
NM_053025.4(MYLK):c.800C>A (p.Thr267Asn)
|
rs755451013
|
0.00001
|
NM_053025.4(MYLK):c.844G>A (p.Glu282Lys)
|
rs746464484
|
0.00001
|
NM_053025.4(MYLK):c.901C>T (p.Gln301Ter)
|
rs545515041
|
0.00001
|
NM_053025.4(MYLK):c.976A>G (p.Lys326Glu)
|
rs140876214
|
0.00001
|
NM_053025.4(MYLK):c.97C>T (p.Pro33Ser)
|
rs770959360
|
0.00001
|
NM_080473.5(GATA5):c.767G>A (p.Arg256Gln)
|
rs781802523
|
0.00001
|
NC_000003.11:g.(?_30713110)_(30715758_?)dup
|
|
|
NC_000003.11:g.(?_30729856)_(30730023_?)del
|
|
|
NC_000003.11:g.(?_30729866)_(30730013_?)del
|
|
|
NC_000003.11:g.(?_30732892)_(30733091_?)del
|
|
|
NC_000003.11:g.(?_30732902)_(30735937_?)del
|
|
|
NC_000009.11:g.(?_100190748)_(103062956_?)dup
|
|
|
NC_000009.11:g.(?_101900131)_(101900381_?)dup
|
|
|
NC_000009.11:g.(?_101900318)_(101903694_?)del
|
|
|
NC_000015.10:g.(?_67184717)_(67190546_?)dup
|
|
|
NC_000015.9:g.(?_67358483)_(67358708_?)dup
|
|
|
NC_000015.9:g.(?_67358483)_(67482884_?)dup
|
|
|
NC_000015.9:g.(?_67358493)_(67358718_?)dup
|
|
|
NC_000015.9:g.(?_67473569)_(67482884_?)dup
|
|
|
NM_000071.3(CBS):c.-4C>A
|
|
|
NM_000071.3(CBS):c.103G>T (p.Asp35Tyr)
|
|
|
NM_000071.3(CBS):c.106A>G (p.Lys36Glu)
|
rs904453895
|
|
NM_000071.3(CBS):c.1119T>G (p.Ile373Met)
|
|
|
NM_000071.3(CBS):c.1166G>C (p.Arg389Thr)
|
rs1383178636
|
|
NM_000071.3(CBS):c.1194GGA[2] (p.Glu400del)
|
rs745438246
|
|
NM_000071.3(CBS):c.1216A>C (p.Lys406Gln)
|
|
|
NM_000071.3(CBS):c.1265C>T (p.Pro422Leu)
|
rs28934892
|
|
NM_000071.3(CBS):c.132C>G (p.Ile44Met)
|
|
|
NM_000071.3(CBS):c.1358G>A (p.Gly453Glu)
|
rs886039146
|
|
NM_000071.3(CBS):c.1373T>C (p.Met458Thr)
|
|
|
NM_000071.3(CBS):c.1400C>T (p.Ser467Phe)
|
|
|
NM_000071.3(CBS):c.1424C>T (p.Pro475Leu)
|
|
|
NM_000071.3(CBS):c.1431C>A (p.Asp477Glu)
|
rs1555871920
|
|
NM_000071.3(CBS):c.1438G>A (p.Gly480Ser)
|
|
|
NM_000071.3(CBS):c.1467G>A (p.Gln489=)
|
|
|
NM_000071.3(CBS):c.1516G>A (p.Asp506Asn)
|
|
|
NM_000071.3(CBS):c.153G>T (p.Arg51Ser)
|
|
|
NM_000071.3(CBS):c.1553-5C>G
|
|
|
NM_000071.3(CBS):c.1633G>A (p.Ala545Thr)
|
|
|
NM_000071.3(CBS):c.1654T>G (p.Ter552Gly)
|
|
|
NM_000071.3(CBS):c.202A>G (p.Thr68Ala)
|
|
|
NM_000071.3(CBS):c.209+2dup
|
|
|
NM_000071.3(CBS):c.233C>G (p.Pro78Arg)
|
rs786204608
|
|
NM_000071.3(CBS):c.23C>G (p.Ala8Gly)
|
|
|
NM_000071.3(CBS):c.23C>T (p.Ala8Val)
|
rs919403971
|
|
NM_000071.3(CBS):c.251T>C (p.Ile84Thr)
|
|
|
NM_000071.3(CBS):c.260C>T (p.Thr87Ile)
|
|
|
NM_000071.3(CBS):c.265A>T (p.Met89Leu)
|
|
|
NM_000071.3(CBS):c.282G>C (p.Lys94Asn)
|
|
|
NM_000071.3(CBS):c.306G>C (p.Lys102Asn)
|
rs786204609
|
|
NM_000071.3(CBS):c.352G>T (p.Val118Leu)
|
|
|
NM_000071.3(CBS):c.389C>T (p.Ala130Val)
|
rs1301672360
|
|
NM_000071.3(CBS):c.394C>A (p.Arg132Ser)
|
rs140002610
|
|
NM_000071.3(CBS):c.426T>G (p.Ile142Met)
|
|
|
NM_000071.3(CBS):c.430G>C (p.Glu144Gln)
|
rs121964966
|
|
NM_000071.3(CBS):c.496A>C (p.Ile166Leu)
|
|
|
NM_000071.3(CBS):c.502G>A (p.Val168Met)
|
rs121964970
|
|
NM_000071.3(CBS):c.532G>A (p.Val178Met)
|
rs370843514
|
|
NM_000071.3(CBS):c.548C>G (p.Ala183Gly)
|
|
|
NM_000071.3(CBS):c.77G>C (p.Gly26Ala)
|
|
|
NM_000071.3(CBS):c.846C>T (p.Pro282=)
|
|
|
NM_000071.3(CBS):c.883C>G (p.Gln295Glu)
|
|
|
NM_000071.3(CBS):c.887C>G (p.Thr296Arg)
|
rs562530775
|
|
NM_000071.3(CBS):c.927C>A (p.Asp309Glu)
|
|
|
NM_000071.3(CBS):c.935C>A (p.Pro312His)
|
|
|
NM_000071.3(CBS):c.955-5C>A
|
rs746366131
|
|
NM_000090.4(COL3A1):c.*3C>A
|
rs1383823798
|
|
NM_000090.4(COL3A1):c.1003C>T (p.Pro335Ser)
|
rs757785982
|
|
NM_000090.4(COL3A1):c.1009C>T (p.Pro337Ser)
|
|
|
NM_000090.4(COL3A1):c.1010C>T (p.Pro337Leu)
|
rs1688217484
|
|
NM_000090.4(COL3A1):c.103C>A (p.Leu35Ile)
|
rs368703012
|
|
NM_000090.4(COL3A1):c.1043G>C (p.Gly348Ala)
|
rs1688218490
|
|
NM_000090.4(COL3A1):c.1050+3A>G
|
|
|
NM_000090.4(COL3A1):c.1057G>A (p.Val353Ile)
|
rs1688228735
|
|
NM_000090.4(COL3A1):c.1073C>A (p.Ser358Tyr)
|
rs2153502278
|
|
NM_000090.4(COL3A1):c.1091C>T (p.Ala364Val)
|
|
|
NM_000090.4(COL3A1):c.1094C>G (p.Pro365Arg)
|
rs1464219199
|
|
NM_000090.4(COL3A1):c.1102A>G (p.Arg368Gly)
|
rs2153502282
|
|
NM_000090.4(COL3A1):c.1118C>T (p.Pro373Leu)
|
rs1688230677
|
|
NM_000090.4(COL3A1):c.1149+6T>C
|
|
|
NM_000090.4(COL3A1):c.1150-3T>G
|
|
|
NM_000090.4(COL3A1):c.1195-3T>G
|
rs1688248649
|
|
NM_000090.4(COL3A1):c.1198C>T (p.Pro400Ser)
|
rs1229093142
|
|
NM_000090.4(COL3A1):c.119C>G (p.Ala40Gly)
|
rs201380807
|
|
NM_000090.4(COL3A1):c.119C>T (p.Ala40Val)
|
rs201380807
|
|
NM_000090.4(COL3A1):c.1201G>C (p.Ala401Pro)
|
rs373858715
|
|
NM_000090.4(COL3A1):c.1216G>C (p.Ala406Pro)
|
rs1283408710
|
|
NM_000090.4(COL3A1):c.121G>A (p.Asp41Asn)
|
rs794728035
|
|
NM_000090.4(COL3A1):c.1225C>G (p.Leu409Val)
|
rs1026603456
|
|
NM_000090.4(COL3A1):c.1229T>C (p.Met410Thr)
|
rs1369779639
|
|
NM_000090.4(COL3A1):c.1230G>T (p.Met410Ile)
|
rs2153502373
|
|
NM_000090.4(COL3A1):c.1264A>G (p.Asn422Asp)
|
rs1688252085
|
|
NM_000090.4(COL3A1):c.1265A>G (p.Asn422Ser)
|
|
|
NM_000090.4(COL3A1):c.1285G>A (p.Gly429Ser)
|
rs1559056179
|
|
NM_000090.4(COL3A1):c.1297G>A (p.Glu433Lys)
|
rs150670470
|
|
NM_000090.4(COL3A1):c.1345C>T (p.Arg449Cys)
|
|
|
NM_000090.4(COL3A1):c.1387G>A (p.Glu463Lys)
|
rs2153502439
|
|
NM_000090.4(COL3A1):c.1442C>G (p.Ala481Gly)
|
rs1688268227
|
|
NM_000090.4(COL3A1):c.1455+4C>A
|
|
|
NM_000090.4(COL3A1):c.1456-15T>G
|
rs1688273707
|
|
NM_000090.4(COL3A1):c.1460C>T (p.Ala487Val)
|
|
|
NM_000090.4(COL3A1):c.1472G>C (p.Arg491Pro)
|
|
|
NM_000090.4(COL3A1):c.1480G>T (p.Ala494Ser)
|
rs200866608
|
|
NM_000090.4(COL3A1):c.1507A>G (p.Lys503Glu)
|
rs1688275818
|
|
NM_000090.4(COL3A1):c.1508A>T (p.Lys503Met)
|
|
|
NM_000090.4(COL3A1):c.1513C>G (p.Pro505Ala)
|
rs776430998
|
|
NM_000090.4(COL3A1):c.1517C>T (p.Ala506Val)
|
|
|
NM_000090.4(COL3A1):c.1531G>A (p.Ala511Thr)
|
rs926106259
|
|
NM_000090.4(COL3A1):c.1543G>A (p.Ala515Thr)
|
rs937534609
|
|
NM_000090.4(COL3A1):c.1550C>G (p.Pro517Arg)
|
rs142085247
|
|
NM_000090.4(COL3A1):c.1570C>T (p.Pro524Ser)
|
rs1688292530
|
|
NM_000090.4(COL3A1):c.1580A>G (p.Asp527Gly)
|
rs1688292723
|
|
NM_000090.4(COL3A1):c.1604T>G (p.Met535Arg)
|
|
|
NM_000090.4(COL3A1):c.1609G>A (p.Gly537Ser)
|
rs1688304002
|
|
NM_000090.4(COL3A1):c.1612A>G (p.Met538Val)
|
rs2153502614
|
|
NM_000090.4(COL3A1):c.1622G>C (p.Ser541Thr)
|
|
|
NM_000090.4(COL3A1):c.1643A>T (p.Asp548Val)
|
|
|
NM_000090.4(COL3A1):c.1652C>G (p.Pro551Arg)
|
rs868705044
|
|
NM_000090.4(COL3A1):c.1652C>T (p.Pro551Leu)
|
rs868705044
|
|
NM_000090.4(COL3A1):c.1660C>G (p.Pro554Ala)
|
rs1334678815
|
|
NM_000090.4(COL3A1):c.1662+4T>G
|
rs1319321003
|
|
NM_000090.4(COL3A1):c.1662+6T>C
|
rs2153502633
|
|
NM_000090.4(COL3A1):c.1663-9T>G
|
|
|
NM_000090.4(COL3A1):c.1667G>A (p.Ser556Asn)
|
rs1688319466
|
|
NM_000090.4(COL3A1):c.1675G>A (p.Glu559Lys)
|
|
|
NM_000090.4(COL3A1):c.1676A>T (p.Glu559Val)
|
|
|
NM_000090.4(COL3A1):c.1712C>A (p.Pro571His)
|
rs1688321100
|
|
NM_000090.4(COL3A1):c.1723C>T (p.Pro575Ser)
|
rs1688321435
|
|
NM_000090.4(COL3A1):c.1729G>A (p.Val577Ile)
|
rs1688321543
|
|
NM_000090.4(COL3A1):c.1765G>A (p.Ala589Thr)
|
rs1327158014
|
|
NM_000090.4(COL3A1):c.1819C>A (p.Pro607Thr)
|
|
|
NM_000090.4(COL3A1):c.1820C>T (p.Pro607Leu)
|
rs1039226542
|
|
NM_000090.4(COL3A1):c.1850A>G (p.Gln617Arg)
|
rs1430358032
|
|
NM_000090.4(COL3A1):c.1855C>A (p.Pro619Thr)
|
rs780889214
|
|
NM_000090.4(COL3A1):c.1855C>T (p.Pro619Ser)
|
rs780889214
|
|
NM_000090.4(COL3A1):c.1856C>G (p.Pro619Arg)
|
|
|
NM_000090.4(COL3A1):c.1867A>G (p.Thr623Ala)
|
|
|
NM_000090.4(COL3A1):c.1870-2A>G
|
rs587779575
|
|
NM_000090.4(COL3A1):c.1895C>A (p.Thr632Lys)
|
rs769039976
|
|
NM_000090.4(COL3A1):c.1900C>T (p.Pro634Ser)
|
rs762129273
|
|
NM_000090.4(COL3A1):c.1919T>C (p.Leu640Ser)
|
rs2153502847
|
|
NM_000090.4(COL3A1):c.1923+3A>G
|
rs1214796107
|
|
NM_000090.4(COL3A1):c.193A>G (p.Ile65Val)
|
rs1440480352
|
|
NM_000090.4(COL3A1):c.1957A>T (p.Asn653Tyr)
|
|
|
NM_000090.4(COL3A1):c.1958A>G (p.Asn653Ser)
|
rs2153502903
|
|
NM_000090.4(COL3A1):c.196A>C (p.Ile66Leu)
|
rs2153501357
|
|
NM_000090.4(COL3A1):c.1975C>A (p.Pro659Thr)
|
rs1064796979
|
|
NM_000090.4(COL3A1):c.1975C>T (p.Pro659Ser)
|
|
|
NM_000090.4(COL3A1):c.1976C>G (p.Pro659Arg)
|
rs756822808
|
|
NM_000090.4(COL3A1):c.1978-25_1978-11del
|
rs2153502936
|
|
NM_000090.4(COL3A1):c.1986G>T (p.Lys662Asn)
|
rs1443558947
|
|
NM_000090.4(COL3A1):c.2003C>T (p.Pro668Leu)
|
rs1576467905
|
|
NM_000090.4(COL3A1):c.2012C>T (p.Pro671Leu)
|
|
|
NM_000090.4(COL3A1):c.2023-4A>T
|
rs749995320
|
|
NM_000090.4(COL3A1):c.204C>A (p.Asp68Glu)
|
rs368299739
|
|
NM_000090.4(COL3A1):c.205G>T (p.Asp69Tyr)
|
rs112714742
|
|
NM_000090.4(COL3A1):c.2065G>T (p.Ala689Ser)
|
rs886055331
|
|
NM_000090.4(COL3A1):c.2072C>T (p.Ala691Val)
|
rs199851835
|
|
NM_000090.4(COL3A1):c.2098C>T (p.Pro700Ser)
|
rs1261828944
|
|
NM_000090.4(COL3A1):c.209A>G (p.Gln70Arg)
|
rs2153501359
|
|
NM_000090.4(COL3A1):c.2107C>T (p.Pro703Ser)
|
rs780123051
|
|
NM_000090.4(COL3A1):c.2117G>A (p.Gly706Glu)
|
rs1688402397
|
|
NM_000090.4(COL3A1):c.2125G>A (p.Ala709Thr)
|
|
|
NM_000090.4(COL3A1):c.2134C>T (p.Pro712Ser)
|
rs1576468303
|
|
NM_000090.4(COL3A1):c.2135C>T (p.Pro712Leu)
|
rs780028064
|
|
NM_000090.4(COL3A1):c.2152_2153delinsTT (p.Ala718Phe)
|
rs2153503026
|
|
NM_000090.4(COL3A1):c.2234A>T (p.Glu745Val)
|
|
|
NM_000090.4(COL3A1):c.2236C>A (p.Pro746Thr)
|
rs1688417443
|
|
NM_000090.4(COL3A1):c.2248G>C (p.Gly750Arg)
|
rs1688418367
|
|
NM_000090.4(COL3A1):c.2259_2260delinsGA (p.Val754Ile)
|
rs2153503068
|
|
NM_000090.4(COL3A1):c.2284-13T>G
|
|
|
NM_000090.4(COL3A1):c.229C>T (p.Pro77Ser)
|
rs1688032952
|
|
NM_000090.4(COL3A1):c.2308C>T (p.Pro770Ser)
|
|
|
NM_000090.4(COL3A1):c.2318C>G (p.Ala773Gly)
|
rs2153503231
|
|
NM_000090.4(COL3A1):c.2344G>A (p.Gly782Ser)
|
|
|
NM_000090.4(COL3A1):c.2353C>T (p.Pro785Ser)
|
rs1688463875
|
|
NM_000090.4(COL3A1):c.235A>G (p.Ile79Val)
|
rs779214140
|
|
NM_000090.4(COL3A1):c.2371G>T (p.Ala791Ser)
|
rs1438663630
|
|
NM_000090.4(COL3A1):c.2372C>T (p.Ala791Val)
|
|
|
NM_000090.4(COL3A1):c.2387G>T (p.Ser796Ile)
|
|
|
NM_000090.4(COL3A1):c.2392-8C>A
|
rs1688484445
|
|
NM_000090.4(COL3A1):c.2414C>G (p.Pro805Arg)
|
rs1688485263
|
|
NM_000090.4(COL3A1):c.242T>C (p.Phe81Ser)
|
rs1576460785
|
|
NM_000090.4(COL3A1):c.2440G>A (p.Ala814Thr)
|
rs1688486281
|
|
NM_000090.4(COL3A1):c.2489C>G (p.Pro830Arg)
|
|
|
NM_000090.4(COL3A1):c.2499A>T (p.Lys833Asn)
|
rs1688501435
|
|
NM_000090.4(COL3A1):c.2521G>T (p.Val841Phe)
|
rs1688502124
|
|
NM_000090.4(COL3A1):c.2530C>G (p.Pro844Ala)
|
rs780490668
|
|
NM_000090.4(COL3A1):c.2540G>A (p.Gly847Asp)
|
|
|
NM_000090.4(COL3A1):c.2540G>T (p.Gly847Val)
|
rs1336654706
|
|
NM_000090.4(COL3A1):c.2588G>A (p.Arg863His)
|
rs755762264
|
|
NM_000090.4(COL3A1):c.258A>T (p.Ala86=)
|
rs775636888
|
|
NM_000090.4(COL3A1):c.2605C>A (p.Pro869Thr)
|
rs758992360
|
|
NM_000090.4(COL3A1):c.2606C>A (p.Pro869His)
|
rs794728052
|
|
NM_000090.4(COL3A1):c.2614G>C (p.Ala872Pro)
|
rs1475390693
|
|
NM_000090.4(COL3A1):c.2633G>A (p.Arg878His)
|
rs1419949637
|
|
NM_000090.4(COL3A1):c.2675C>T (p.Pro892Leu)
|
rs1447793042
|
|
NM_000090.4(COL3A1):c.2720C>T (p.Pro907Leu)
|
rs1688530290
|
|
NM_000090.4(COL3A1):c.2723C>T (p.Ala908Val)
|
rs144036995
|
|
NM_000090.4(COL3A1):c.2737G>C (p.Ala913Pro)
|
|
|
NM_000090.4(COL3A1):c.2756T>G (p.Val919Gly)
|
rs1426365127
|
|
NM_000090.4(COL3A1):c.2791G>C (p.Glu931Gln)
|
|
|
NM_000090.4(COL3A1):c.2801C>T (p.Ser934Leu)
|
rs753621331
|
|
NM_000090.4(COL3A1):c.2809G>A (p.Ala937Thr)
|
rs1688533171
|
|
NM_000090.4(COL3A1):c.2819C>A (p.Pro940Gln)
|
rs1221479337
|
|
NM_000090.4(COL3A1):c.2823+5G>A
|
rs1559060755
|
|
NM_000090.4(COL3A1):c.2823+5G>C
|
rs1559060755
|
|
NM_000090.4(COL3A1):c.2823+5_2823+8del
|
|
|
NM_000090.4(COL3A1):c.2824-10T>A
|
rs2153503519
|
|
NM_000090.4(COL3A1):c.283C>A (p.Pro95Thr)
|
rs1688039740
|
|
NM_000090.4(COL3A1):c.2867G>A (p.Arg956Gln)
|
|
|
NM_000090.4(COL3A1):c.2899C>A (p.Pro967Thr)
|
|
|
NM_000090.4(COL3A1):c.2899C>T (p.Pro967Ser)
|
|
|
NM_000090.4(COL3A1):c.2900C>A (p.Pro967His)
|
rs1688539642
|
|
NM_000090.4(COL3A1):c.2903G>A (p.Arg968Lys)
|
|
|
NM_000090.4(COL3A1):c.290G>A (p.Arg97His)
|
rs1197947308
|
|
NM_000090.4(COL3A1):c.290G>T (p.Arg97Leu)
|
rs1197947308
|
|
NM_000090.4(COL3A1):c.2917C>T (p.Pro973Ser)
|
rs1559060895
|
|
NM_000090.4(COL3A1):c.2973A>G (p.Glu991=)
|
rs1183070767
|
|
NM_000090.4(COL3A1):c.2975G>A (p.Arg992His)
|
rs374527092
|
|
NM_000090.4(COL3A1):c.2980C>A (p.Pro994Thr)
|
rs142457159
|
|
NM_000090.4(COL3A1):c.2981C>T (p.Pro994Leu)
|
rs1688563132
|
|
NM_000090.4(COL3A1):c.2982C>T (p.Pro994=)
|
|
|
NM_000090.4(COL3A1):c.2992C>G (p.Gln998Glu)
|
|
|
NM_000090.4(COL3A1):c.3001C>T (p.Pro1001Ser)
|
rs777180110
|
|
NM_000090.4(COL3A1):c.300T>A (p.Asn100Lys)
|
rs776373729
|
|
NM_000090.4(COL3A1):c.300T>G (p.Asn100Lys)
|
rs776373729
|
|
NM_000090.4(COL3A1):c.3010G>T (p.Ala1004Ser)
|
rs770199071
|
|
NM_000090.4(COL3A1):c.302G>A (p.Gly101Asp)
|
|
|
NM_000090.4(COL3A1):c.3044A>G (p.Asn1015Ser)
|
rs1064796863
|
|
NM_000090.4(COL3A1):c.305A>T (p.Gln102Leu)
|
rs748033086
|
|
NM_000090.4(COL3A1):c.3089G>A (p.Gly1030Asp)
|
|
|
NM_000090.4(COL3A1):c.3092A>C (p.Lys1031Thr)
|
rs749725146
|
|
NM_000090.4(COL3A1):c.3093+3A>C
|
rs771429937
|
|
NM_000090.4(COL3A1):c.3093+5A>G
|
rs1688583785
|
|
NM_000090.4(COL3A1):c.3100C>A (p.Arg1034Ser)
|
|
|
NM_000090.4(COL3A1):c.3101G>T (p.Arg1034Leu)
|
rs780788248
|
|
NM_000090.4(COL3A1):c.3117T>C (p.Ser1039=)
|
rs1559061716
|
|
NM_000090.4(COL3A1):c.3134C>T (p.Ala1045Val)
|
|
|
NM_000090.4(COL3A1):c.3145C>G (p.Pro1049Ala)
|
rs775562650
|
|
NM_000090.4(COL3A1):c.3172G>A (p.Ala1058Thr)
|
rs1576471863
|
|
NM_000090.4(COL3A1):c.3190A>G (p.Arg1064Gly)
|
|
|
NM_000090.4(COL3A1):c.3198A>C (p.Glu1066Asp)
|
|
|
NM_000090.4(COL3A1):c.319C>A (p.Pro107Thr)
|
|
|
NM_000090.4(COL3A1):c.3200G>A (p.Ser1067Asn)
|
rs886039067
|
|
NM_000090.4(COL3A1):c.3201+3G>A
|
|
|
NM_000090.4(COL3A1):c.320C>G (p.Pro107Arg)
|
rs1559052813
|
|
NM_000090.4(COL3A1):c.3217G>A (p.Ala1073Thr)
|
rs1553509489
|
|
NM_000090.4(COL3A1):c.3235G>T (p.Ala1079Ser)
|
rs1688599491
|
|
NM_000090.4(COL3A1):c.3250G>T (p.Ala1084Ser)
|
rs113038686
|
|
NM_000090.4(COL3A1):c.3255+10G>A
|
rs1688600236
|
|
NM_000090.4(COL3A1):c.3255+11_3255+20dup
|
|
|
NM_000090.4(COL3A1):c.3256-43T>C
|
rs587779667
|
|
NM_000090.4(COL3A1):c.3258T>A (p.Gly1086=)
|
rs1688619835
|
|
NM_000090.4(COL3A1):c.3272G>A (p.Arg1091His)
|
|
|
NM_000090.4(COL3A1):c.3281A>G (p.Lys1094Arg)
|
rs2153503892
|
|
NM_000090.4(COL3A1):c.3290C>G (p.Thr1097Arg)
|
rs1224538144
|
|
NM_000090.4(COL3A1):c.329A>T (p.Asp110Val)
|
|
|
NM_000090.4(COL3A1):c.3317A>G (p.Lys1106Arg)
|
|
|
NM_000090.4(COL3A1):c.3323A>G (p.His1108Arg)
|
rs1688621770
|
|
NM_000090.4(COL3A1):c.333+2T>G
|
|
|
NM_000090.4(COL3A1):c.3341A>G (p.Asn1114Ser)
|
|
|
NM_000090.4(COL3A1):c.3363+4A>C
|
|
|
NM_000090.4(COL3A1):c.3367C>G (p.Pro1123Ala)
|
|
|
NM_000090.4(COL3A1):c.3388A>G (p.Ile1130Val)
|
|
|
NM_000090.4(COL3A1):c.3415A>G (p.Arg1139Gly)
|
rs1688631864
|
|
NM_000090.4(COL3A1):c.3418-5C>G
|
rs377392671
|
|
NM_000090.4(COL3A1):c.3422C>T (p.Pro1141Leu)
|
rs1576472883
|
|
NM_000090.4(COL3A1):c.3425T>G (p.Val1142Gly)
|
rs777307062
|
|
NM_000090.4(COL3A1):c.343G>T (p.Gly115Cys)
|
rs964468427
|
|
NM_000090.4(COL3A1):c.3476C>T (p.Pro1159Leu)
|
rs1378423439
|
|
NM_000090.4(COL3A1):c.3478A>G (p.Ile1160Val)
|
rs1688636735
|
|
NM_000090.4(COL3A1):c.3525+10C>G
|
|
|
NM_000090.4(COL3A1):c.3525+5G>A
|
rs2153503988
|
|
NM_000090.4(COL3A1):c.3551C>G (p.Pro1184Arg)
|
rs1688657446
|
|
NM_000090.4(COL3A1):c.3565C>G (p.Pro1189Ala)
|
|
|
NM_000090.4(COL3A1):c.3565C>T (p.Pro1189Ser)
|
rs1324996402
|
|
NM_000090.4(COL3A1):c.3574_3582del (p.Ala1192_Gly1194del)
|
rs2153504077
|
|
NM_000090.4(COL3A1):c.3577C>T (p.Pro1193Ser)
|
rs1275851079
|
|
NM_000090.4(COL3A1):c.3590G>C (p.Cys1197Ser)
|
|
|
NM_000090.4(COL3A1):c.3595G>A (p.Gly1199Ser)
|
rs2153504082
|
|
NM_000090.4(COL3A1):c.3596G>T (p.Gly1199Val)
|
rs1688658772
|
|
NM_000090.4(COL3A1):c.3601_3602delinsTT (p.Gly1201Leu)
|
|
|
NM_000090.4(COL3A1):c.3628G>A (p.Gly1210Ser)
|
|
|
NM_000090.4(COL3A1):c.3637G>C (p.Ala1213Pro)
|
rs1427744978
|
|
NM_000090.4(COL3A1):c.3658T>A (p.Tyr1220Asn)
|
rs1688661231
|
|
NM_000090.4(COL3A1):c.3670C>T (p.Pro1224Ser)
|
|
|
NM_000090.4(COL3A1):c.3676G>A (p.Asp1226Asn)
|
rs1453881906
|
|
NM_000090.4(COL3A1):c.3746T>C (p.Ile1249Thr)
|
|
|
NM_000090.4(COL3A1):c.3754G>A (p.Asp1252Asn)
|
rs1688664293
|
|
NM_000090.4(COL3A1):c.3757G>A (p.Gly1253Ser)
|
rs1447586307
|
|
NM_000090.4(COL3A1):c.3763C>T (p.Arg1255Cys)
|
rs1576473569
|
|
NM_000090.4(COL3A1):c.3764G>T (p.Arg1255Leu)
|
rs368119434
|
|
NM_000090.4(COL3A1):c.3796A>C (p.Lys1266Gln)
|
rs946156674
|
|
NM_000090.4(COL3A1):c.3800T>C (p.Phe1267Ser)
|
rs1194692141
|
|
NM_000090.4(COL3A1):c.3801C>G (p.Phe1267Leu)
|
rs1042884028
|
|
NM_000090.4(COL3A1):c.3803G>C (p.Cys1268Ser)
|
rs1688665916
|
|
NM_000090.4(COL3A1):c.3806A>G (p.His1269Arg)
|
rs751092650
|
|
NM_000090.4(COL3A1):c.3824-13T>G
|
rs1000595244
|
|
NM_000090.4(COL3A1):c.3868A>C (p.Ile1290Leu)
|
rs757734757
|
|
NM_000090.4(COL3A1):c.3868A>G (p.Ile1290Val)
|
|
|
NM_000090.4(COL3A1):c.3869T>C (p.Ile1290Thr)
|
rs1688690716
|
|
NM_000090.4(COL3A1):c.3873G>C (p.Lys1291Asn)
|
|
|
NM_000090.4(COL3A1):c.3907A>G (p.Ile1303Val)
|
|
|
NM_000090.4(COL3A1):c.3913G>T (p.Ala1305Ser)
|
rs1688691968
|
|
NM_000090.4(COL3A1):c.3926A>G (p.Asn1309Ser)
|
rs1060500201
|
|
NM_000090.4(COL3A1):c.3937A>G (p.Lys1313Glu)
|
rs886038983
|
|
NM_000090.4(COL3A1):c.3940C>T (p.His1314Tyr)
|
rs1688692678
|
|
NM_000090.4(COL3A1):c.3953A>G (p.Asp1318Gly)
|
rs1688692973
|
|
NM_000090.4(COL3A1):c.3964G>C (p.Glu1322Gln)
|
rs149522780
|
|
NM_000090.4(COL3A1):c.3969G>C (p.Lys1323Asn)
|
rs2153504249
|
|
NM_000090.4(COL3A1):c.3996G>A (p.Met1332Ile)
|
|
|
NM_000090.4(COL3A1):c.3998A>G (p.Asp1333Gly)
|
rs376651720
|
|
NM_000090.4(COL3A1):c.4046T>C (p.Val1349Ala)
|
|
|
NM_000090.4(COL3A1):c.4066T>G (p.Phe1356Val)
|
rs945183835
|
|
NM_000090.4(COL3A1):c.4088G>A (p.Arg1363Gln)
|
rs1227282800
|
|
NM_000090.4(COL3A1):c.4135A>T (p.Met1379Leu)
|
rs1060500196
|
|
NM_000090.4(COL3A1):c.4143G>T (p.Gln1381His)
|
rs1029608155
|
|
NM_000090.4(COL3A1):c.4156G>A (p.Val1386Ile)
|
rs1158116878
|
|
NM_000090.4(COL3A1):c.416G>C (p.Gly139Ala)
|
|
|
NM_000090.4(COL3A1):c.4178T>G (p.Met1393Arg)
|
rs1688707596
|
|
NM_000090.4(COL3A1):c.419T>C (p.Ile140Thr)
|
rs750849196
|
|
NM_000090.4(COL3A1):c.4226C>G (p.Thr1409Ser)
|
rs1688708929
|
|
NM_000090.4(COL3A1):c.4229A>C (p.Tyr1410Ser)
|
rs1559063838
|
|
NM_000090.4(COL3A1):c.4253C>A (p.Thr1418Lys)
|
rs1012915558
|
|
NM_000090.4(COL3A1):c.4255-11C>A
|
rs766242305
|
|
NM_000090.4(COL3A1):c.4255-13T>G
|
rs1688727983
|
|
NM_000090.4(COL3A1):c.4255-5del
|
|
|
NM_000090.4(COL3A1):c.4261A>T (p.Thr1421Ser)
|
|
|
NM_000090.4(COL3A1):c.4275C>A (p.Ser1425Arg)
|
rs1688728943
|
|
NM_000090.4(COL3A1):c.4275C>G (p.Ser1425Arg)
|
rs1688728943
|
|
NM_000090.4(COL3A1):c.4295G>A (p.Arg1432Gln)
|
rs772428340
|
|
NM_000090.4(COL3A1):c.4306G>C (p.Ala1436Pro)
|
rs148015311
|
|
NM_000090.4(COL3A1):c.431G>A (p.Cys144Tyr)
|
rs1688053672
|
|
NM_000090.4(COL3A1):c.4321A>G (p.Ile1441Val)
|
|
|
NM_000090.4(COL3A1):c.4330A>G (p.Ile1444Val)
|
rs1688730862
|
|
NM_000090.4(COL3A1):c.4384C>A (p.Pro1462Thr)
|
rs1688732943
|
|
NM_000090.4(COL3A1):c.4384C>T (p.Pro1462Ser)
|
rs1688732943
|
|
NM_000090.4(COL3A1):c.446A>T (p.Gln149Leu)
|
|
|
NM_000090.4(COL3A1):c.458C>G (p.Pro153Arg)
|
|
|
NM_000090.4(COL3A1):c.491T>C (p.Val164Ala)
|
|
|
NM_000090.4(COL3A1):c.493G>C (p.Ala165Pro)
|
|
|
NM_000090.4(COL3A1):c.494C>T (p.Ala165Val)
|
|
|
NM_000090.4(COL3A1):c.499GGA[1] (p.Gly168del)
|
rs1688079577
|
|
NM_000090.4(COL3A1):c.52C>T (p.Pro18Ser)
|
rs886038951
|
|
NM_000090.4(COL3A1):c.542C>T (p.Pro181Leu)
|
rs746628029
|
|
NM_000090.4(COL3A1):c.554C>G (p.Pro185Arg)
|
rs886038977
|
|
NM_000090.4(COL3A1):c.55A>G (p.Thr19Ala)
|
rs1300339107
|
|
NM_000090.4(COL3A1):c.55A>T (p.Thr19Ser)
|
|
|
NM_000090.4(COL3A1):c.582+4_582+7dup
|
|
|
NM_000090.4(COL3A1):c.583-14A>T
|
|
|
NM_000090.4(COL3A1):c.598C>A (p.Gln200Lys)
|
|
|
NM_000090.4(COL3A1):c.605C>T (p.Pro202Leu)
|
rs1688111694
|
|
NM_000090.4(COL3A1):c.607C>G (p.Pro203Ala)
|
rs1688111809
|
|
NM_000090.4(COL3A1):c.607C>T (p.Pro203Ser)
|
rs1688111809
|
|
NM_000090.4(COL3A1):c.617C>G (p.Pro206Arg)
|
rs1268896574
|
|
NM_000090.4(COL3A1):c.659C>T (p.Ala220Val)
|
rs867258281
|
|
NM_000090.4(COL3A1):c.661A>G (p.Ile221Val)
|
|
|
NM_000090.4(COL3A1):c.667C>G (p.Pro223Ala)
|
rs1325737333
|
|
NM_000090.4(COL3A1):c.679G>T (p.Ala227Ser)
|
|
|
NM_000090.4(COL3A1):c.739C>A (p.Pro247Thr)
|
rs1688156029
|
|
NM_000090.4(COL3A1):c.743C>T (p.Pro248Leu)
|
|
|
NM_000090.4(COL3A1):c.74A>G (p.Gln25Arg)
|
rs748787122
|
|
NM_000090.4(COL3A1):c.77A>G (p.Glu26Gly)
|
|
|
NM_000090.4(COL3A1):c.784A>G (p.Met262Val)
|
rs1688161240
|
|
NM_000090.4(COL3A1):c.805G>A (p.Asp269Asn)
|
|
|
NM_000090.4(COL3A1):c.80C>A (p.Ala27Asp)
|
rs759521597
|
|
NM_000090.4(COL3A1):c.821A>G (p.Glu274Gly)
|
rs1688177791
|
|
NM_000090.4(COL3A1):c.839C>T (p.Ala280Val)
|
rs1422693997
|
|
NM_000090.4(COL3A1):c.842C>A (p.Pro281His)
|
rs794728039
|
|
NM_000090.4(COL3A1):c.852G>A (p.Lys284=)
|
|
|
NM_000090.4(COL3A1):c.86_88del (p.Glu29del)
|
rs1559052566
|
|
NM_000090.4(COL3A1):c.898-4G>T
|
|
|
NM_000090.4(COL3A1):c.902C>T (p.Pro301Leu)
|
rs1273313377
|
|
NM_000090.4(COL3A1):c.904A>G (p.Arg302Gly)
|
|
|
NM_000090.4(COL3A1):c.911C>T (p.Ala304Val)
|
rs730880061
|
|
NM_000090.4(COL3A1):c.931C>T (p.Pro311Ser)
|
rs2153502120
|
|
NM_000090.4(COL3A1):c.941C>G (p.Pro314Arg)
|
|
|
NM_000090.4(COL3A1):c.946G>T (p.Ala316Ser)
|
rs958176385
|
|
NM_000090.4(COL3A1):c.947C>T (p.Ala316Val)
|
rs2153502123
|
|
NM_000090.4(COL3A1):c.958C>T (p.Arg320Trp)
|
rs1386163891
|
|
NM_000090.4(COL3A1):c.959G>A (p.Arg320Gln)
|
rs778179067
|
|
NM_000090.4(COL3A1):c.982A>G (p.Ser328Gly)
|
rs1688204324
|
|
NM_000090.4(COL3A1):c.989G>A (p.Gly330Asp)
|
rs1559055303
|
|
NM_000090.4(COL3A1):c.9C>A (p.Ser3Arg)
|
|
|
NM_000093.5(COL5A1):c.-1C>A
|
|
|
NM_000093.5(COL5A1):c.1024C>T (p.Pro342Ser)
|
rs886039023
|
|
NM_000093.5(COL5A1):c.1052C>T (p.Pro351Leu)
|
rs887190843
|
|
NM_000093.5(COL5A1):c.1063C>T (p.Leu355Phe)
|
|
|
NM_000093.5(COL5A1):c.1078G>T (p.Gly360Trp)
|
|
|
NM_000093.5(COL5A1):c.1105G>C (p.Asp369His)
|
rs777935807
|
|
NM_000093.5(COL5A1):c.1195G>A (p.Asp399Asn)
|
|
|
NM_000093.5(COL5A1):c.1246TACTACGACCCC[1] (p.416YYDP[1])
|
rs745934765
|
|
NM_000093.5(COL5A1):c.1429G>A (p.Ala477Thr)
|
rs774936702
|
|
NM_000093.5(COL5A1):c.149A>G (p.Asn50Ser)
|
rs79138021
|
|
NM_000093.5(COL5A1):c.1556T>C (p.Met519Thr)
|
rs202069285
|
|
NM_000093.5(COL5A1):c.1724C>G (p.Pro575Arg)
|
|
|
NM_000093.5(COL5A1):c.1762G>C (p.Val588Leu)
|
|
|
NM_000093.5(COL5A1):c.17G>T (p.Arg6Leu)
|
|
|
NM_000093.5(COL5A1):c.1826G>A (p.Arg609Gln)
|
|
|
NM_000093.5(COL5A1):c.1826G>T (p.Arg609Leu)
|
|
|
NM_000093.5(COL5A1):c.19T>C (p.Trp7Arg)
|
|
|
NM_000093.5(COL5A1):c.202T>C (p.Ser68Pro)
|
rs1554780172
|
|
NM_000093.5(COL5A1):c.2092_2093delinsCA (p.Val698His)
|
rs1554796087
|
|
NM_000093.5(COL5A1):c.2233-3T>C
|
|
|
NM_000093.5(COL5A1):c.226A>G (p.Arg76Gly)
|
|
|
NM_000093.5(COL5A1):c.2281C>A (p.Pro761Thr)
|
|
|
NM_000093.5(COL5A1):c.2366C>G (p.Pro789Arg)
|
|
|
NM_000093.5(COL5A1):c.2435A>G (p.Glu812Gly)
|
|
|
NM_000093.5(COL5A1):c.2482C>G (p.Arg828Gly)
|
|
|
NM_000093.5(COL5A1):c.2500C>T (p.Pro834Ser)
|
|
|
NM_000093.5(COL5A1):c.2503G>A (p.Gly835Ser)
|
rs927467876
|
|
NM_000093.5(COL5A1):c.2551C>T (p.Pro851Ser)
|
|
|
NM_000093.5(COL5A1):c.2759A>G (p.Glu920Gly)
|
|
|
NM_000093.5(COL5A1):c.2842C>T (p.Arg948Trp)
|
rs1030105888
|
|
NM_000093.5(COL5A1):c.301T>C (p.Ser101Pro)
|
rs1554781476
|
|
NM_000093.5(COL5A1):c.3258G>T (p.Ala1086=)
|
|
|
NM_000093.5(COL5A1):c.3259-5C>T
|
|
|
NM_000093.5(COL5A1):c.341C>G (p.Ala114Gly)
|
|
|
NM_000093.5(COL5A1):c.3433C>G (p.Pro1145Ala)
|
|
|
NM_000093.5(COL5A1):c.3483C>G (p.Ile1161Met)
|
|
|
NM_000093.5(COL5A1):c.350T>G (p.Val117Gly)
|
rs1554781492
|
|
NM_000093.5(COL5A1):c.353C>G (p.Ser118Cys)
|
rs1554781494
|
|
NM_000093.5(COL5A1):c.3595G>C (p.Glu1199Gln)
|
rs867211079
|
|
NM_000093.5(COL5A1):c.3607C>G (p.Arg1203Gly)
|
|
|
NM_000093.5(COL5A1):c.3698C>T (p.Pro1233Leu)
|
rs886039091
|
|
NM_000093.5(COL5A1):c.3905C>G (p.Pro1302Arg)
|
rs201920777
|
|
NM_000093.5(COL5A1):c.3968C>T (p.Pro1323Leu)
|
rs2132853817
|
|
NM_000093.5(COL5A1):c.4126T>C (p.Ser1376Pro)
|
rs869025373
|
|
NM_000093.5(COL5A1):c.4175G>A (p.Arg1392Lys)
|
rs863223479
|
|
NM_000093.5(COL5A1):c.4230+5_4230+6delinsTA
|
|
|
NM_000093.5(COL5A1):c.431_432delinsAT (p.Thr144Asn)
|
rs864622040
|
|
NM_000093.5(COL5A1):c.433G>A (p.Gly145Arg)
|
|
|
NM_000093.5(COL5A1):c.4427C>A (p.Ser1476Tyr)
|
|
|
NM_000093.5(COL5A1):c.4554+4C>T
|
|
|
NM_000093.5(COL5A1):c.4609-3C>T
|
|
|
NM_000093.5(COL5A1):c.5036C>A (p.Thr1679Lys)
|
rs1554808365
|
|
NM_000093.5(COL5A1):c.5053AAG[1] (p.Lys1686del)
|
|
|
NM_000093.5(COL5A1):c.5085G>T (p.Trp1695Cys)
|
|
|
NM_000093.5(COL5A1):c.5243A>G (p.Gln1748Arg)
|
rs2132925725
|
|
NM_000093.5(COL5A1):c.5264C>T (p.Ala1755Val)
|
|
|
NM_000093.5(COL5A1):c.5266G>A (p.Ala1756Thr)
|
rs769947722
|
|
NM_000093.5(COL5A1):c.527A>G (p.Asn176Ser)
|
|
|
NM_000093.5(COL5A1):c.5432C>T (p.Pro1811Leu)
|
rs1554727362
|
|
NM_000093.5(COL5A1):c.5468C>T (p.Ala1823Val)
|
rs747656987
|
|
NM_000093.5(COL5A1):c.5495G>A (p.Gly1832Glu)
|
rs1554727410
|
|
NM_000093.5(COL5A1):c.599A>C (p.Asp200Ala)
|
rs1554781695
|
|
NM_000093.5(COL5A1):c.67CTG[3] (p.Leu26_Leu28del)
|
rs773994971
|
|
NM_000093.5(COL5A1):c.67CTG[7] (p.Leu28dup)
|
rs773994971
|
|
NM_000093.5(COL5A1):c.773A>G (p.Asn258Ser)
|
rs1554787566
|
|
NM_000093.5(COL5A1):c.77_85del (p.Leu26_Trp29delinsArg)
|
rs1831316736
|
|
NM_000093.5(COL5A1):c.802G>A (p.Gly268Ser)
|
rs748603743
|
|
NM_000093.5(COL5A1):c.98C>T (p.Pro33Leu)
|
|
|
NM_000138.4(FBN1):c.-371T>C
|
rs886051257
|
|
NM_000138.4(FBN1):c.-389_-388TC[1]
|
rs886051258
|
|
NM_000138.4(FBN1):c.-400A>T
|
rs1890299170
|
|
NM_000138.5(FBN1):c.*1007G>T
|
rs886051236
|
|
NM_000138.5(FBN1):c.*107A>G
|
rs562749473
|
|
NM_000138.5(FBN1):c.*1122C>T
|
rs2042846511
|
|
NM_000138.5(FBN1):c.*1201T>G
|
rs574181586
|
|
NM_000138.5(FBN1):c.*1396C>T
|
rs886051235
|
|
NM_000138.5(FBN1):c.*1477C>A
|
rs886051233
|
|
NM_000138.5(FBN1):c.*1635C>A
|
rs886051232
|
|
NM_000138.5(FBN1):c.*1733A>G
|
rs886051230
|
|
NM_000138.5(FBN1):c.*1943G>T
|
rs886051229
|
|
NM_000138.5(FBN1):c.*2078G>T
|
rs886051228
|
|
NM_000138.5(FBN1):c.*2114T>A
|
rs886051227
|
|
NM_000138.5(FBN1):c.*2260C>A
|
rs886051225
|
|
NM_000138.5(FBN1):c.*235T>C
|
rs1597506366
|
|
NM_000138.5(FBN1):c.*2421C>A
|
rs886051224
|
|
NM_000138.5(FBN1):c.*2443G>T
|
rs886051223
|
|
NM_000138.5(FBN1):c.*2533C>A
|
rs886051222
|
|
NM_000138.5(FBN1):c.*2578C>T
|
rs761025257
|
|
NM_000138.5(FBN1):c.*2594G>T
|
rs886051220
|
|
NM_000138.5(FBN1):c.*2638T>C
|
rs886051219
|
|
NM_000138.5(FBN1):c.*268G>C
|
rs886051242
|
|
NM_000138.5(FBN1):c.*286C>T
|
rs886051241
|
|
NM_000138.5(FBN1):c.*311G>A
|
rs894774727
|
|
NM_000138.5(FBN1):c.*325T>C
|
rs537909430
|
|
NM_000138.5(FBN1):c.*399C>A
|
rs2042852375
|
|
NM_000138.5(FBN1):c.*406G>T
|
rs886051240
|
|
NM_000138.5(FBN1):c.*724A>C
|
rs886051239
|
|
NM_000138.5(FBN1):c.*938G>T
|
rs886051238
|
|
NM_000138.5(FBN1):c.*948G>T
|
rs749224599
|
|
NM_000138.5(FBN1):c.*967C>T
|
rs56024388
|
|
NM_000138.5(FBN1):c.*987C>T
|
rs886051237
|
|
NM_000138.5(FBN1):c.-108G>A
|
rs1029606067
|
|
NM_000138.5(FBN1):c.-12C>T
|
|
|
NM_000138.5(FBN1):c.-132A>C
|
rs886051255
|
|
NM_000138.5(FBN1):c.-70C>A
|
rs886051253
|
|
NM_000138.5(FBN1):c.-7_-6dup
|
rs1890264079
|
|
NM_000138.5(FBN1):c.100G>A (p.Val34Met)
|
|
|
NM_000138.5(FBN1):c.1015G>A (p.Ala339Thr)
|
rs2141336224
|
|
NM_000138.5(FBN1):c.101T>C (p.Val34Ala)
|
rs1890260465
|
|
NM_000138.5(FBN1):c.1031G>C (p.Arg344Pro)
|
rs200388305
|
|
NM_000138.5(FBN1):c.1036T>C (p.Ser346Pro)
|
rs727504361
|
|
NM_000138.5(FBN1):c.1057A>T (p.Ile353Leu)
|
rs750653834
|
|
NM_000138.5(FBN1):c.1082A>T (p.Asp361Val)
|
rs2043845991
|
|
NM_000138.5(FBN1):c.1090C>G (p.Arg364Gly)
|
rs794728165
|
|
NM_000138.5(FBN1):c.1096T>C (p.Trp366Arg)
|
rs2141336038
|
|
NM_000138.5(FBN1):c.10G>T (p.Gly4Trp)
|
rs1890263469
|
|
NM_000138.5(FBN1):c.1100C>T (p.Ser367Phe)
|
|
|
NM_000138.5(FBN1):c.110C>A (p.Thr37Asn)
|
rs1890260193
|
|
NM_000138.5(FBN1):c.1114G>C (p.Val372Leu)
|
rs2141336011
|
|
NM_000138.5(FBN1):c.112A>G (p.Arg38Gly)
|
|
|
NM_000138.5(FBN1):c.1145C>G (p.Thr382Ser)
|
rs2043844619
|
|
NM_000138.5(FBN1):c.1147+4A>G
|
rs2043844451
|
|
NM_000138.5(FBN1):c.1158C>G (p.Asn386Lys)
|
rs368737502
|
|
NM_000138.5(FBN1):c.1168T>C (p.Ser390Pro)
|
rs779113310
|
|
NM_000138.5(FBN1):c.1175C>T (p.Pro392Leu)
|
rs534127494
|
|
NM_000138.5(FBN1):c.1193G>A (p.Arg398Lys)
|
rs886051250
|
|
NM_000138.5(FBN1):c.1195C>G (p.Pro399Ala)
|
rs886039155
|
|
NM_000138.5(FBN1):c.1200A>C (p.Glu400Asp)
|
|
|
NM_000138.5(FBN1):c.1201T>A (p.Tyr401Asn)
|
|
|
NM_000138.5(FBN1):c.1202A>T (p.Tyr401Phe)
|
|
|
NM_000138.5(FBN1):c.1210C>G (p.Pro404Ala)
|
rs2043801000
|
|
NM_000138.5(FBN1):c.1211C>A (p.Pro404Gln)
|
rs779930519
|
|
NM_000138.5(FBN1):c.1211C>T (p.Pro404Leu)
|
rs779930519
|
|
NM_000138.5(FBN1):c.1213C>A (p.Pro405Thr)
|
rs2043800829
|
|
NM_000138.5(FBN1):c.121C>G (p.Arg41Gly)
|
rs1158441291
|
|
NM_000138.5(FBN1):c.1229C>A (p.Pro410His)
|
rs2043800530
|
|
NM_000138.5(FBN1):c.1247C>T (p.Pro416Leu)
|
rs2141330993
|
|
NM_000138.5(FBN1):c.1268C>G (p.Pro423Arg)
|
rs1298538974
|
|
NM_000138.5(FBN1):c.1286G>A (p.Arg429Gln)
|
rs368089138
|
|
NM_000138.5(FBN1):c.1286G>C (p.Arg429Pro)
|
|
|
NM_000138.5(FBN1):c.1288C>A (p.Pro430Thr)
|
rs2043799392
|
|
NM_000138.5(FBN1):c.1315C>T (p.Arg439Trp)
|
|
|
NM_000138.5(FBN1):c.132A>T (p.Arg44Ser)
|
rs1890259134
|
|
NM_000138.5(FBN1):c.133A>G (p.Arg45Gly)
|
rs1597652333
|
|
NM_000138.5(FBN1):c.1361A>G (p.Gln454Arg)
|
rs2043793504
|
|
NM_000138.5(FBN1):c.136G>A (p.Gly46Ser)
|
rs1890259021
|
|
NM_000138.5(FBN1):c.1390C>G (p.Arg464Gly)
|
rs587782943
|
|
NM_000138.5(FBN1):c.1396A>G (p.Ile466Val)
|
rs2043792834
|
|
NM_000138.5(FBN1):c.1397T>C (p.Ile466Thr)
|
|
|
NM_000138.5(FBN1):c.1406C>T (p.Pro469Leu)
|
|
|
NM_000138.5(FBN1):c.1425G>C (p.Glu475Asp)
|
rs752142729
|
|
NM_000138.5(FBN1):c.1435G>T (p.Gly479Trp)
|
|
|
NM_000138.5(FBN1):c.1468+4C>A
|
rs765579667
|
|
NM_000138.5(FBN1):c.1468+4C>G
|
rs765579667
|
|
NM_000138.5(FBN1):c.1468G>C (p.Asp490His)
|
|
|
NM_000138.5(FBN1):c.146G>A (p.Gly49Glu)
|
|
|
NM_000138.5(FBN1):c.1471G>T (p.Val491Phe)
|
rs373751659
|
|
NM_000138.5(FBN1):c.1472T>C (p.Val491Ala)
|
rs2043779139
|
|
NM_000138.5(FBN1):c.1491C>G (p.Asn497Lys)
|
|
|
NM_000138.5(FBN1):c.1504G>T (p.Gly502Cys)
|
rs762111810
|
|
NM_000138.5(FBN1):c.151G>A (p.Asp51Asn)
|
rs2140787467
|
|
NM_000138.5(FBN1):c.1535C>T (p.Thr512Ile)
|
rs1555400280
|
|
NM_000138.5(FBN1):c.1553G>C (p.Gly518Ala)
|
|
|
NM_000138.5(FBN1):c.1573C>T (p.Arg525Trp)
|
rs768253008
|
|
NM_000138.5(FBN1):c.1574G>A (p.Arg525Gln)
|
|
|
NM_000138.5(FBN1):c.1588+3A>G
|
|
|
NM_000138.5(FBN1):c.1595A>G (p.Asp532Gly)
|
rs745422205
|
|
NM_000138.5(FBN1):c.1624A>C (p.Asn542His)
|
rs1597578012
|
|
NM_000138.5(FBN1):c.1625A>G (p.Asn542Ser)
|
rs963564435
|
|
NM_000138.5(FBN1):c.162A>G (p.Lys54=)
|
rs777116853
|
|
NM_000138.5(FBN1):c.1639A>C (p.Ile547Leu)
|
|
|
NM_000138.5(FBN1):c.1640T>A (p.Ile547Asn)
|
rs112269822
|
|
NM_000138.5(FBN1):c.1641C>G (p.Ile547Met)
|
|
|
NM_000138.5(FBN1):c.165-8_165-6delinsGG
|
rs2044669818
|
|
NM_000138.5(FBN1):c.1657T>G (p.Phe553Val)
|
|
|
NM_000138.5(FBN1):c.1666G>A (p.Val556Met)
|
rs1239988676
|
|
NM_000138.5(FBN1):c.170A>G (p.Asn57Ser)
|
rs2044669666
|
|
NM_000138.5(FBN1):c.1714+5T>C
|
rs2043745384
|
|
NM_000138.5(FBN1):c.1715-9T>A
|
rs1057520813
|
|
NM_000138.5(FBN1):c.1721A>G (p.Asp574Gly)
|
rs1566914907
|
|
NM_000138.5(FBN1):c.176G>A (p.Cys59Tyr)
|
rs1555405673
|
|
NM_000138.5(FBN1):c.1823G>A (p.Gly608Glu)
|
rs368283028
|
|
NM_000138.5(FBN1):c.1846G>A (p.Glu616Lys)
|
rs397515764
|
|
NM_000138.5(FBN1):c.1872G>C (p.Met624Ile)
|
rs2141317399
|
|
NM_000138.5(FBN1):c.1876G>A (p.Gly626Arg)
|
rs794728177
|
|
NM_000138.5(FBN1):c.1892C>G (p.Thr631Ser)
|
rs913115111
|
|
NM_000138.5(FBN1):c.1897G>A (p.Gly633Ser)
|
rs2141317297
|
|
NM_000138.5(FBN1):c.1898G>C (p.Gly633Ala)
|
rs1566914006
|
|
NM_000138.5(FBN1):c.1908A>G (p.Arg636=)
|
rs886039089
|
|
NM_000138.5(FBN1):c.1912G>A (p.Glu638Lys)
|
rs2141317254
|
|
NM_000138.5(FBN1):c.1930G>C (p.Ala644Pro)
|
rs1555399809
|
|
NM_000138.5(FBN1):c.1940T>C (p.Leu647Pro)
|
rs1566913983
|
|
NM_000138.5(FBN1):c.1961-15C>G
|
rs2043686921
|
|
NM_000138.5(FBN1):c.1961-6_1961-5del
|
|
|
NM_000138.5(FBN1):c.1961-9C>G
|
rs1323690451
|
|
NM_000138.5(FBN1):c.1964C>G (p.Thr655Arg)
|
rs779915218
|
|
NM_000138.5(FBN1):c.1970T>C (p.Met657Thr)
|
rs2043686451
|
|
NM_000138.5(FBN1):c.1973G>A (p.Arg658Gln)
|
rs794728181
|
|
NM_000138.5(FBN1):c.199T>C (p.Cys67Arg)
|
rs2140737496
|
|
NM_000138.5(FBN1):c.2000G>A (p.Arg667Lys)
|
rs2043685894
|
|
NM_000138.5(FBN1):c.2006A>G (p.Gln669Arg)
|
rs939784046
|
|
NM_000138.5(FBN1):c.2009G>C (p.Cys670Ser)
|
|
|
NM_000138.5(FBN1):c.2022G>T (p.Leu674Phe)
|
rs794728182
|
|
NM_000138.5(FBN1):c.2031T>A (p.Ala677=)
|
rs762312642
|
|
NM_000138.5(FBN1):c.2044G>C (p.Glu682Gln)
|
rs908212152
|
|
NM_000138.5(FBN1):c.2058_2063del (p.Ser687_Thr688del)
|
rs794728298
|
|
NM_000138.5(FBN1):c.2063C>A (p.Thr688Asn)
|
rs2043684944
|
|
NM_000138.5(FBN1):c.208G>A (p.Gly70Arg)
|
rs2044669023
|
|
NM_000138.5(FBN1):c.209G>T (p.Gly70Val)
|
|
|
NM_000138.5(FBN1):c.2114C>T (p.Ala705Val)
|
rs1426292408
|
|
NM_000138.5(FBN1):c.2164A>G (p.Ser722Gly)
|
|
|
NM_000138.5(FBN1):c.2168-11T>G
|
|
|
NM_000138.5(FBN1):c.2168-7G>C
|
|
|
NM_000138.5(FBN1):c.218C>T (p.Thr73Ile)
|
rs2044668949
|
|
NM_000138.5(FBN1):c.2203C>T (p.Pro735Ser)
|
rs2043616905
|
|
NM_000138.5(FBN1):c.2204C>G (p.Pro735Arg)
|
|
|
NM_000138.5(FBN1):c.2206A>G (p.Asn736Asp)
|
rs878853678
|
|
NM_000138.5(FBN1):c.2209G>A (p.Gly737Arg)
|
rs1597570356
|
|
NM_000138.5(FBN1):c.2219A>G (p.Glu740Gly)
|
rs2043616665
|
|
NM_000138.5(FBN1):c.2228G>C (p.Arg743Pro)
|
|
|
NM_000138.5(FBN1):c.223C>T (p.Pro75Ser)
|
rs886051252
|
|
NM_000138.5(FBN1):c.2245A>G (p.Ile749Val)
|
rs1555399370
|
|
NM_000138.5(FBN1):c.2258G>T (p.Gly753Val)
|
rs1555399365
|
|
NM_000138.5(FBN1):c.2279G>A (p.Gly760Glu)
|
rs2141306332
|
|
NM_000138.5(FBN1):c.2290G>T (p.Val764Phe)
|
|
|
NM_000138.5(FBN1):c.2295T>A (p.Asp765Glu)
|
rs2141305165
|
|
NM_000138.5(FBN1):c.229G>A (p.Gly77Arg)
|
rs794728290
|
|
NM_000138.5(FBN1):c.2302G>A (p.Glu768Lys)
|
|
|
NM_000138.5(FBN1):c.2308G>A (p.Val770Ile)
|
rs1555399280
|
|
NM_000138.5(FBN1):c.2315A>G (p.Asn772Ser)
|
rs2043607383
|
|
NM_000138.5(FBN1):c.2318G>T (p.Ser773Ile)
|
rs1193928660
|
|
NM_000138.5(FBN1):c.2323C>T (p.Leu775Phe)
|
|
|
NM_000138.5(FBN1):c.2339A>T (p.Gln780Leu)
|
rs886039058
|
|
NM_000138.5(FBN1):c.2351C>T (p.Thr784Ile)
|
rs2043606965
|
|
NM_000138.5(FBN1):c.2353C>T (p.Pro785Ser)
|
rs2141305061
|
|
NM_000138.5(FBN1):c.2373C>T (p.Thr791=)
|
|
|
NM_000138.5(FBN1):c.2398C>G (p.Pro800Ala)
|
|
|
NM_000138.5(FBN1):c.2399C>G (p.Pro800Arg)
|
rs2043606468
|
|
NM_000138.5(FBN1):c.2419+8A>G
|
|
|
NM_000138.5(FBN1):c.2420-15del
|
rs748642981
|
|
NM_000138.5(FBN1):c.2441G>A (p.Ser814Asn)
|
rs2043600469
|
|
NM_000138.5(FBN1):c.2447G>T (p.Cys816Phe)
|
rs397515770
|
|
NM_000138.5(FBN1):c.2464A>G (p.Lys822Glu)
|
rs2043600053
|
|
NM_000138.5(FBN1):c.247+5G>A
|
rs2044668542
|
|
NM_000138.5(FBN1):c.2471G>A (p.Ser824Asn)
|
|
|
NM_000138.5(FBN1):c.2474C>A (p.Pro825Gln)
|
rs148396006
|
|
NM_000138.5(FBN1):c.2508T>A (p.Ser836Arg)
|
rs193922190
|
|
NM_000138.5(FBN1):c.2521A>T (p.Thr841Ser)
|
rs1381506466
|
|
NM_000138.5(FBN1):c.2543C>T (p.Thr848Ile)
|
rs878853680
|
|
NM_000138.5(FBN1):c.2548A>C (p.Lys850Gln)
|
rs1481779864
|
|
NM_000138.5(FBN1):c.2564A>G (p.Gln855Arg)
|
rs2043596063
|
|
NM_000138.5(FBN1):c.2590A>G (p.Ile864Val)
|
|
|
NM_000138.5(FBN1):c.2601T>A (p.Asn867Lys)
|
rs759097188
|
|
NM_000138.5(FBN1):c.2609C>T (p.Thr870Ile)
|
|
|
NM_000138.5(FBN1):c.2613A>C (p.Leu871Phe)
|
rs770290542
|
|
NM_000138.5(FBN1):c.2621A>G (p.Gln874Arg)
|
rs2043595247
|
|
NM_000138.5(FBN1):c.2622G>T (p.Gln874His)
|
rs2043595231
|
|
NM_000138.5(FBN1):c.2624G>A (p.Cys875Tyr)
|
rs886039038
|
|
NM_000138.5(FBN1):c.2630C>T (p.Ser877Phe)
|
rs1555399153
|
|
NM_000138.5(FBN1):c.2641G>T (p.Ala881Ser)
|
|
|
NM_000138.5(FBN1):c.2660G>A (p.Cys887Tyr)
|
rs2043594601
|
|
NM_000138.5(FBN1):c.2674G>A (p.Val892Ile)
|
|
|
NM_000138.5(FBN1):c.2678-3C>G
|
rs747274959
|
|
NM_000138.5(FBN1):c.2678A>G (p.Asp893Gly)
|
|
|
NM_000138.5(FBN1):c.2689G>A (p.Gly897Ser)
|
rs2141302435
|
|
NM_000138.5(FBN1):c.268G>A (p.Gly90Arg)
|
|
|
NM_000138.5(FBN1):c.2695G>A (p.Gly899Arg)
|
rs869025405
|
|
NM_000138.5(FBN1):c.269G>C (p.Gly90Ala)
|
rs2140734033
|
|
NM_000138.5(FBN1):c.2727A>C (p.Glu909Asp)
|
rs2043583978
|
|
NM_000138.5(FBN1):c.2735A>T (p.Asp912Val)
|
rs754919275
|
|
NM_000138.5(FBN1):c.2743G>A (p.Glu915Lys)
|
rs746834413
|
|
NM_000138.5(FBN1):c.2747T>G (p.Val916Gly)
|
rs2043569786
|
|
NM_000138.5(FBN1):c.2779G>A (p.Val927Ile)
|
|
|
NM_000138.5(FBN1):c.2783A>T (p.Asn928Ile)
|
rs1566910929
|
|
NM_000138.5(FBN1):c.2785A>G (p.Thr929Ala)
|
rs372203315
|
|
NM_000138.5(FBN1):c.2786C>T (p.Thr929Ile)
|
|
|
NM_000138.5(FBN1):c.2792G>C (p.Gly931Ala)
|
rs200078617
|
|
NM_000138.5(FBN1):c.2792G>T (p.Gly931Val)
|
rs200078617
|
|
NM_000138.5(FBN1):c.2801A>C (p.Lys934Thr)
|
rs1489199503
|
|
NM_000138.5(FBN1):c.2813C>T (p.Pro938Leu)
|
rs758257941
|
|
NM_000138.5(FBN1):c.2855-8T>C
|
rs193922195
|
|
NM_000138.5(FBN1):c.2861G>A (p.Arg954His)
|
rs112911555
|
|
NM_000138.5(FBN1):c.2882G>A (p.Arg961Lys)
|
rs886039100
|
|
NM_000138.5(FBN1):c.2884T>C (p.Tyr962His)
|
|
|
NM_000138.5(FBN1):c.2887G>C (p.Glu963Gln)
|
rs745709588
|
|
NM_000138.5(FBN1):c.2893G>A (p.Glu965Lys)
|
rs748905831
|
|
NM_000138.5(FBN1):c.2898G>C (p.Glu966Asp)
|
rs1555398829
|
|
NM_000138.5(FBN1):c.2903C>T (p.Thr968Ile)
|
rs781698952
|
|
NM_000138.5(FBN1):c.2908C>T (p.Pro970Ser)
|
rs755462838
|
|
NM_000138.5(FBN1):c.2911A>C (p.Ile971Leu)
|
|
|
NM_000138.5(FBN1):c.2929A>G (p.Met977Val)
|
rs776833421
|
|
NM_000138.5(FBN1):c.2931G>A (p.Met977Ile)
|
|
|
NM_000138.5(FBN1):c.2969C>T (p.Thr990Ile)
|
|
|
NM_000138.5(FBN1):c.2995A>G (p.Arg999Gly)
|
|
|
NM_000138.5(FBN1):c.2999A>G (p.Asn1000Ser)
|
rs2043543012
|
|
NM_000138.5(FBN1):c.3016G>A (p.Glu1006Lys)
|
rs754040534
|
|
NM_000138.5(FBN1):c.301A>T (p.Thr101Ser)
|
|
|
NM_000138.5(FBN1):c.3020T>G (p.Leu1007Arg)
|
rs794728200
|
|
NM_000138.5(FBN1):c.3025C>T (p.Pro1009Ser)
|
|
|
NM_000138.5(FBN1):c.3026C>T (p.Pro1009Leu)
|
rs148076256
|
|
NM_000138.5(FBN1):c.3049A>G (p.Lys1017Glu)
|
|
|
NM_000138.5(FBN1):c.3076T>G (p.Phe1026Val)
|
rs2043541729
|
|
NM_000138.5(FBN1):c.3082+4C>T
|
rs2141297000
|
|
NM_000138.5(FBN1):c.3106C>A (p.Pro1036Thr)
|
rs2141295301
|
|
NM_000138.5(FBN1):c.3112C>T (p.Leu1038Phe)
|
rs1297814403
|
|
NM_000138.5(FBN1):c.3119C>A (p.Thr1040Asn)
|
rs2043529012
|
|
NM_000138.5(FBN1):c.3123C>G (p.His1041Gln)
|
rs576395584
|
|
NM_000138.5(FBN1):c.3160A>G (p.Arg1054Gly)
|
rs2043528343
|
|
NM_000138.5(FBN1):c.3172G>A (p.Gly1058Ser)
|
rs886039208
|
|
NM_000138.5(FBN1):c.3181C>T (p.Leu1061Phe)
|
rs781064769
|
|
NM_000138.5(FBN1):c.31C>G (p.Leu11Val)
|
|
|
NM_000138.5(FBN1):c.3205A>G (p.Thr1069Ala)
|
rs761632843
|
|
NM_000138.5(FBN1):c.3208+3C>T
|
|
|
NM_000138.5(FBN1):c.3212T>C (p.Ile1071Thr)
|
|
|
NM_000138.5(FBN1):c.3224G>A (p.Arg1075His)
|
rs369745372
|
|
NM_000138.5(FBN1):c.3266C>A (p.Thr1089Asn)
|
rs2043525347
|
|
NM_000138.5(FBN1):c.3268C>G (p.Pro1090Ala)
|
|
|
NM_000138.5(FBN1):c.3310G>A (p.Gly1104Arg)
|
|
|
NM_000138.5(FBN1):c.3315C>G (p.Phe1105Leu)
|
|
|
NM_000138.5(FBN1):c.3326A>G (p.Lys1109Arg)
|
|
|
NM_000138.5(FBN1):c.3341T>C (p.Ile1114Thr)
|
rs771972230
|
|
NM_000138.5(FBN1):c.3343G>A (p.Asp1115Asn)
|
rs2141293800
|
|
NM_000138.5(FBN1):c.3361C>T (p.Pro1121Ser)
|
rs1445613212
|
|
NM_000138.5(FBN1):c.3421C>G (p.Pro1141Ala)
|
rs2043517417
|
|
NM_000138.5(FBN1):c.3425C>G (p.Pro1142Arg)
|
rs2043517357
|
|
NM_000138.5(FBN1):c.3457T>C (p.Cys1153Arg)
|
rs886038877
|
|
NM_000138.5(FBN1):c.3464-13A>C
|
|
|
NM_000138.5(FBN1):c.347-12T>G
|
rs2140718351
|
|
NM_000138.5(FBN1):c.3478G>A (p.Glu1160Lys)
|
rs193922199
|
|
NM_000138.5(FBN1):c.3508C>T (p.Arg1170Cys)
|
rs1366894709
|
|
NM_000138.5(FBN1):c.3569_3570delinsAA (p.Pro1190Gln)
|
rs2043514115
|
|
NM_000138.5(FBN1):c.3574A>G (p.Arg1192Gly)
|
rs2043513994
|
|
NM_000138.5(FBN1):c.3586G>A (p.Val1196Ile)
|
rs1352765609
|
|
NM_000138.5(FBN1):c.3589+3A>G
|
rs2043513649
|
|
NM_000138.5(FBN1):c.359A>G (p.Asn120Ser)
|
rs753900024
|
|
NM_000138.5(FBN1):c.359A>T (p.Asn120Ile)
|
rs753900024
|
|
NM_000138.5(FBN1):c.3605_3606delinsTT (p.Ser1202Ile)
|
rs2043498514
|
|
NM_000138.5(FBN1):c.3607A>C (p.Ile1203Leu)
|
|
|
NM_000138.5(FBN1):c.365G>T (p.Arg122Leu)
|
rs1010750845
|
|
NM_000138.5(FBN1):c.3703T>C (p.Ser1235Pro)
|
rs1555398382
|
|
NM_000138.5(FBN1):c.3709A>G (p.Thr1237Ala)
|
rs1459223225
|
|
NM_000138.5(FBN1):c.3712+9G>T
|
rs769251450
|
|
NM_000138.5(FBN1):c.3712G>C (p.Asp1238His)
|
rs794728208
|
|
NM_000138.5(FBN1):c.3728A>G (p.Glu1243Gly)
|
rs1555398290
|
|
NM_000138.5(FBN1):c.374A>G (p.Asn125Ser)
|
rs2044551186
|
|
NM_000138.5(FBN1):c.3750T>G (p.Asp1250Glu)
|
|
|
NM_000138.5(FBN1):c.3751G>T (p.Gly1251Cys)
|
|
|
NM_000138.5(FBN1):c.3765_3767delinsCTGTAC (p.Asn1256delinsCysThr)
|
rs140596
|
|
NM_000138.5(FBN1):c.3766A>G (p.Asn1256Asp)
|
rs772890884
|
|
NM_000138.5(FBN1):c.3786G>T (p.Arg1262Ser)
|
rs1555398280
|
|
NM_000138.5(FBN1):c.3808A>T (p.Met1270Leu)
|
|
|
NM_000138.5(FBN1):c.380G>A (p.Gly127Asp)
|
rs1566935524
|
|
NM_000138.5(FBN1):c.3823A>G (p.Met1275Val)
|
rs747414686
|
|
NM_000138.5(FBN1):c.382A>G (p.Ser128Gly)
|
|
|
NM_000138.5(FBN1):c.3835G>A (p.Val1279Ile)
|
rs2141289564
|
|
NM_000138.5(FBN1):c.3869T>C (p.Ile1290Thr)
|
rs2043467019
|
|
NM_000138.5(FBN1):c.3881G>T (p.Gly1294Val)
|
rs1060501064
|
|
NM_000138.5(FBN1):c.38T>G (p.Phe13Cys)
|
rs773614956
|
|
NM_000138.5(FBN1):c.3902G>C (p.Gly1301Ala)
|
rs1566908083
|
|
NM_000138.5(FBN1):c.3902G>T (p.Gly1301Val)
|
rs1566908083
|
|
NM_000138.5(FBN1):c.3925A>G (p.Met1309Val)
|
rs2043466374
|
|
NM_000138.5(FBN1):c.3929G>T (p.Gly1310Val)
|
rs2043466303
|
|
NM_000138.5(FBN1):c.3937G>C (p.Gly1313Arg)
|
rs1156984408
|
|
NM_000138.5(FBN1):c.3947G>A (p.Gly1316Glu)
|
rs2141287306
|
|
NM_000138.5(FBN1):c.394G>C (p.Asp132His)
|
|
|
NM_000138.5(FBN1):c.3996C>G (p.Asn1332Lys)
|
rs2043405102
|
|
NM_000138.5(FBN1):c.4027G>T (p.Ala1343Ser)
|
rs2043404775
|
|
NM_000138.5(FBN1):c.4040A>T (p.Lys1347Ile)
|
|
|
NM_000138.5(FBN1):c.4055C>A (p.Pro1352His)
|
|
|
NM_000138.5(FBN1):c.4057G>T (p.Gly1353Trp)
|
rs187177496
|
|
NM_000138.5(FBN1):c.4072G>A (p.Gly1358Ser)
|
|
|
NM_000138.5(FBN1):c.4080G>T (p.Lys1360Asn)
|
|
|
NM_000138.5(FBN1):c.4084A>C (p.Thr1362Pro)
|
rs2043403949
|
|
NM_000138.5(FBN1):c.4096G>C (p.Glu1366Gln)
|
rs763449629
|
|
NM_000138.5(FBN1):c.4127A>G (p.Gln1376Arg)
|
rs1597553861
|
|
NM_000138.5(FBN1):c.4128G>T (p.Gln1376His)
|
rs1180794278
|
|
NM_000138.5(FBN1):c.4130A>T (p.His1377Leu)
|
rs1238143005
|
|
NM_000138.5(FBN1):c.4152G>A (p.Met1384Ile)
|
rs1488326228
|
|
NM_000138.5(FBN1):c.4154G>T (p.Gly1385Val)
|
rs2141279776
|
|
NM_000138.5(FBN1):c.4157C>T (p.Ser1386Phe)
|
rs794728219
|
|
NM_000138.5(FBN1):c.4163G>T (p.Arg1388Leu)
|
rs749196340
|
|
NM_000138.5(FBN1):c.4174A>G (p.Lys1392Glu)
|
rs756683929
|
|
NM_000138.5(FBN1):c.4186A>G (p.Thr1396Ala)
|
rs2043401583
|
|
NM_000138.5(FBN1):c.4187C>T (p.Thr1396Ile)
|
rs2043401571
|
|
NM_000138.5(FBN1):c.4190G>T (p.Gly1397Val)
|
rs747867726
|
|
NM_000138.5(FBN1):c.4193A>G (p.Asp1398Gly)
|
rs781045902
|
|
NM_000138.5(FBN1):c.4201A>G (p.Thr1401Ala)
|
|
|
NM_000138.5(FBN1):c.4210+4T>A
|
|
|
NM_000138.5(FBN1):c.421A>T (p.Ile141Leu)
|
rs2044550436
|
|
NM_000138.5(FBN1):c.422T>C (p.Ile141Thr)
|
|
|
NM_000138.5(FBN1):c.4231A>C (p.Asn1411His)
|
rs1366885432
|
|
NM_000138.5(FBN1):c.4257G>T (p.Gln1419His)
|
|
|
NM_000138.5(FBN1):c.4271C>T (p.Pro1424Leu)
|
|
|
NM_000138.5(FBN1):c.4277G>C (p.Gly1426Ala)
|
rs531751210
|
|
NM_000138.5(FBN1):c.4280A>G (p.Tyr1427Cys)
|
rs1555397548
|
|
NM_000138.5(FBN1):c.4306G>T (p.Val1436Leu)
|
rs377338217
|
|
NM_000138.5(FBN1):c.4309C>G (p.Pro1437Ala)
|
rs1408492045
|
|
NM_000138.5(FBN1):c.4316C>T (p.Ala1439Val)
|
rs755085498
|
|
NM_000138.5(FBN1):c.4336+3A>G
|
rs2141277819
|
|
NM_000138.5(FBN1):c.4337A>G (p.Asp1446Gly)
|
rs397515806
|
|
NM_000138.5(FBN1):c.4337A>T (p.Asp1446Val)
|
rs397515806
|
|
NM_000138.5(FBN1):c.4361A>G (p.Asn1454Ser)
|
rs1555397415
|
|
NM_000138.5(FBN1):c.4364T>G (p.Ile1455Ser)
|
rs397515807
|
|
NM_000138.5(FBN1):c.4385A>C (p.His1462Pro)
|
|
|
NM_000138.5(FBN1):c.4388A>G (p.Asn1463Ser)
|
rs1555397413
|
|
NM_000138.5(FBN1):c.4388A>T (p.Asn1463Ile)
|
rs1555397413
|
|
NM_000138.5(FBN1):c.4390C>T (p.Leu1464Phe)
|
rs1161494614
|
|
NM_000138.5(FBN1):c.442+4A>C
|
rs768207411
|
|
NM_000138.5(FBN1):c.442+8C>T
|
rs771771077
|
|
NM_000138.5(FBN1):c.4423G>C (p.Gly1475Arg)
|
|
|
NM_000138.5(FBN1):c.443-12C>A
|
rs1027154934
|
|
NM_000138.5(FBN1):c.443-15C>A
|
rs2044516377
|
|
NM_000138.5(FBN1):c.4437C>G (p.Asp1479Glu)
|
rs370161725
|
|
NM_000138.5(FBN1):c.4447G>A (p.Gly1483Arg)
|
rs794728223
|
|
NM_000138.5(FBN1):c.4459+3A>T
|
rs397515809
|
|
NM_000138.5(FBN1):c.4459G>A (p.Asp1487Asn)
|
rs113693945
|
|
NM_000138.5(FBN1):c.4462G>T (p.Val1488Leu)
|
rs1566904712
|
|
NM_000138.5(FBN1):c.4478A>G (p.Asp1493Gly)
|
rs1597549141
|
|
NM_000138.5(FBN1):c.4480C>T (p.Pro1494Ser)
|
rs2043341698
|
|
NM_000138.5(FBN1):c.4520G>T (p.Gly1507Val)
|
rs794728225
|
|
NM_000138.5(FBN1):c.4523G>T (p.Ser1508Ile)
|
rs1555397207
|
|
NM_000138.5(FBN1):c.4526A>G (p.Tyr1509Cys)
|
rs730880102
|
|
NM_000138.5(FBN1):c.4543C>T (p.Pro1515Ser)
|
rs1219583611
|
|
NM_000138.5(FBN1):c.4548T>G (p.Asp1516Glu)
|
rs2043340843
|
|
NM_000138.5(FBN1):c.4562C>G (p.Pro1521Arg)
|
|
|
NM_000138.5(FBN1):c.4565C>T (p.Thr1522Ile)
|
|
|
NM_000138.5(FBN1):c.456T>A (p.Ser152Arg)
|
rs2044516014
|
|
NM_000138.5(FBN1):c.4570G>A (p.Val1524Ile)
|
rs2043340600
|
|
NM_000138.5(FBN1):c.457G>A (p.Gly153Ser)
|
rs995711019
|
|
NM_000138.5(FBN1):c.4584T>A (p.Asp1528Glu)
|
rs2141272538
|
|
NM_000138.5(FBN1):c.4586C>T (p.Thr1529Ile)
|
rs794728227
|
|
NM_000138.5(FBN1):c.4588C>A (p.Arg1530Ser)
|
rs111401431
|
|
NM_000138.5(FBN1):c.4594G>C (p.Gly1532Arg)
|
|
|
NM_000138.5(FBN1):c.4604A>G (p.Tyr1535Cys)
|
|
|
NM_000138.5(FBN1):c.4609G>T (p.Asp1537Tyr)
|
rs757316301
|
|
NM_000138.5(FBN1):c.4612A>G (p.Ile1538Val)
|
rs2043337939
|
|
NM_000138.5(FBN1):c.463C>T (p.Leu155Phe)
|
rs1324666333
|
|
NM_000138.5(FBN1):c.4640C>G (p.Thr1547Arg)
|
rs183306990
|
|
NM_000138.5(FBN1):c.4643C>G (p.Ala1548Gly)
|
rs2141272405
|
|
NM_000138.5(FBN1):c.4678G>A (p.Ala1560Thr)
|
rs142858432
|
|
NM_000138.5(FBN1):c.4679C>T (p.Ala1560Val)
|
|
|
NM_000138.5(FBN1):c.4694C>T (p.Ser1565Phe)
|
rs1555397156
|
|
NM_000138.5(FBN1):c.4704A>T (p.Lys1568Asn)
|
rs193922208
|
|
NM_000138.5(FBN1):c.4708_4710del (p.Trp1570del)
|
|
|
NM_000138.5(FBN1):c.4728G>A (p.Met1576Ile)
|
rs2141272271
|
|
NM_000138.5(FBN1):c.472G>A (p.Gly158Arg)
|
rs1555404812
|
|
NM_000138.5(FBN1):c.4732C>G (p.Pro1578Ala)
|
rs2141272257
|
|
NM_000138.5(FBN1):c.4747+4A>G
|
rs1430326088
|
|
NM_000138.5(FBN1):c.4757A>G (p.Lys1586Arg)
|
rs2043316400
|
|
NM_000138.5(FBN1):c.477G>T (p.Arg159Ser)
|
rs1456579664
|
|
NM_000138.5(FBN1):c.4787G>A (p.Arg1596Gln)
|
rs769588424
|
|
NM_000138.5(FBN1):c.47T>C (p.Leu16Pro)
|
|
|
NM_000138.5(FBN1):c.4815A>G (p.Glu1605=)
|
rs869025408
|
|
NM_000138.5(FBN1):c.4820T>C (p.Ile1607Thr)
|
|
|
NM_000138.5(FBN1):c.4843G>C (p.Gly1615Arg)
|
rs1486011211
|
|
NM_000138.5(FBN1):c.484G>T (p.Ala162Ser)
|
rs193922210
|
|
NM_000138.5(FBN1):c.4853A>G (p.Gln1618Arg)
|
rs2043314733
|
|
NM_000138.5(FBN1):c.4884T>A (p.Ser1628Arg)
|
|
|
NM_000138.5(FBN1):c.4886T>C (p.Phe1629Ser)
|
|
|
NM_000138.5(FBN1):c.4903A>G (p.Thr1635Ala)
|
rs1374520881
|
|
NM_000138.5(FBN1):c.4912T>C (p.Tyr1638His)
|
rs2141269601
|
|
NM_000138.5(FBN1):c.4928C>A (p.Thr1643Lys)
|
|
|
NM_000138.5(FBN1):c.4930C>G (p.Arg1644Gly)
|
rs140630
|
|
NM_000138.5(FBN1):c.4951G>A (p.Glu1651Lys)
|
rs886039152
|
|
NM_000138.5(FBN1):c.4967G>T (p.Gly1656Val)
|
rs2043301092
|
|
NM_000138.5(FBN1):c.4998C>T (p.Thr1666=)
|
rs141925790
|
|
NM_000138.5(FBN1):c.4C>G (p.Arg2Gly)
|
rs1597652545
|
|
NM_000138.5(FBN1):c.5024C>T (p.Pro1675Leu)
|
rs1245578187
|
|
NM_000138.5(FBN1):c.5048G>A (p.Gly1683Glu)
|
rs2043300299
|
|
NM_000138.5(FBN1):c.5050G>A (p.Gly1684Arg)
|
rs1555396841
|
|
NM_000138.5(FBN1):c.5062A>G (p.Met1688Val)
|
rs2043300134
|
|
NM_000138.5(FBN1):c.5064G>T (p.Met1688Ile)
|
rs2141267563
|
|
NM_000138.5(FBN1):c.5066-13_5066-12delinsTAT
|
rs2043294261
|
|
NM_000138.5(FBN1):c.5066-15_5066-14del
|
rs3833018
|
|
NM_000138.5(FBN1):c.5069T>C (p.Met1690Thr)
|
rs199644881
|
|
NM_000138.5(FBN1):c.5073AAG[1] (p.Arg1692del)
|
rs1555396789
|
|
NM_000138.5(FBN1):c.5093A>G (p.Asn1698Ser)
|
rs2043293815
|
|
NM_000138.5(FBN1):c.5121T>A (p.Asp1707Glu)
|
|
|
NM_000138.5(FBN1):c.5140A>G (p.Met1714Val)
|
rs1555396776
|
|
NM_000138.5(FBN1):c.5142G>C (p.Met1714Ile)
|
rs368287795
|
|
NM_000138.5(FBN1):c.5149A>C (p.Lys1717Gln)
|
rs777640133
|
|
NM_000138.5(FBN1):c.5176G>A (p.Gly1726Ser)
|
rs2043292422
|
|
NM_000138.5(FBN1):c.5204A>G (p.Gln1735Arg)
|
|
|
NM_000138.5(FBN1):c.5212A>C (p.Ile1738Leu)
|
|
|
NM_000138.5(FBN1):c.5223A>G (p.Thr1741=)
|
rs2043291766
|
|
NM_000138.5(FBN1):c.5224+3G>A
|
rs2141266479
|
|
NM_000138.5(FBN1):c.5224+4A>C
|
|
|
NM_000138.5(FBN1):c.5225-10A>T
|
|
|
NM_000138.5(FBN1):c.5233G>A (p.Ala1745Thr)
|
|
|
NM_000138.5(FBN1):c.5282C>G (p.Thr1761Ser)
|
rs2141263978
|
|
NM_000138.5(FBN1):c.5297-8G>C
|
|
|
NM_000138.5(FBN1):c.5300T>C (p.Ile1767Thr)
|
|
|
NM_000138.5(FBN1):c.5339G>T (p.Gly1780Val)
|
rs2141260428
|
|
NM_000138.5(FBN1):c.5355G>T (p.Met1785Ile)
|
rs2043240928
|
|
NM_000138.5(FBN1):c.5369G>A (p.Arg1790Gln)
|
rs1555396428
|
|
NM_000138.5(FBN1):c.5383G>T (p.Val1795Leu)
|
rs2141260344
|
|
NM_000138.5(FBN1):c.5387_5388delinsTT (p.Gly1796Val)
|
|
|
NM_000138.5(FBN1):c.5405A>G (p.Lys1802Arg)
|
rs886051248
|
|
NM_000138.5(FBN1):c.5405A>T (p.Lys1802Met)
|
|
|
NM_000138.5(FBN1):c.5406G>T (p.Lys1802Asn)
|
rs2043240104
|
|
NM_000138.5(FBN1):c.5422+4A>G
|
rs2043239792
|
|
NM_000138.5(FBN1):c.5428G>T (p.Asp1810Tyr)
|
rs2043210566
|
|
NM_000138.5(FBN1):c.5429A>T (p.Asp1810Val)
|
rs2043210544
|
|
NM_000138.5(FBN1):c.545G>A (p.Arg182Lys)
|
rs2044026912
|
|
NM_000138.5(FBN1):c.5465_5467dup (p.Ala1822dup)
|
rs2043210146
|
|
NM_000138.5(FBN1):c.5482G>A (p.Ala1828Thr)
|
rs1566900504
|
|
NM_000138.5(FBN1):c.5489G>A (p.Ser1830Asn)
|
rs2043209851
|
|
NM_000138.5(FBN1):c.5525C>T (p.Thr1842Ile)
|
rs1566900477
|
|
NM_000138.5(FBN1):c.5530A>G (p.Thr1844Ala)
|
rs2043209318
|
|
NM_000138.5(FBN1):c.5531C>A (p.Thr1844Lys)
|
rs761886457
|
|
NM_000138.5(FBN1):c.5546-3C>G
|
|
|
NM_000138.5(FBN1):c.5569C>T (p.Pro1857Ser)
|
rs2043179615
|
|
NM_000138.5(FBN1):c.5597T>C (p.Ile1866Thr)
|
rs773133679
|
|
NM_000138.5(FBN1):c.5603C>G (p.Thr1868Arg)
|
rs145082616
|
|
NM_000138.5(FBN1):c.560T>A (p.Phe187Tyr)
|
|
|
NM_000138.5(FBN1):c.5611A>C (p.Ser1871Arg)
|
rs2141252175
|
|
NM_000138.5(FBN1):c.5613C>A (p.Ser1871Arg)
|
rs776310363
|
|
NM_000138.5(FBN1):c.5635G>C (p.Gly1879Arg)
|
rs1555395979
|
|
NM_000138.5(FBN1):c.5645C>T (p.Thr1882Ile)
|
|
|
NM_000138.5(FBN1):c.5651A>T (p.Asp1884Val)
|
|
|
NM_000138.5(FBN1):c.5672-6T>A
|
rs1555395850
|
|
NM_000138.5(FBN1):c.5674A>G (p.Ile1892Val)
|
rs760170973
|
|
NM_000138.5(FBN1):c.5711C>T (p.Thr1904Ile)
|
rs1269096957
|
|
NM_000138.5(FBN1):c.5716C>G (p.Arg1906Gly)
|
rs746343138
|
|
NM_000138.5(FBN1):c.5723C>T (p.Thr1908Ile)
|
rs1304811982
|
|
NM_000138.5(FBN1):c.5725A>C (p.Ile1909Leu)
|
rs886038785
|
|
NM_000138.5(FBN1):c.572G>T (p.Ser191Ile)
|
|
|
NM_000138.5(FBN1):c.5744G>A (p.Arg1915His)
|
|
|
NM_000138.5(FBN1):c.5756G>C (p.Gly1919Ala)
|
rs2141250311
|
|
NM_000138.5(FBN1):c.5778T>G (p.Asn1926Lys)
|
rs2043162237
|
|
NM_000138.5(FBN1):c.5788+4C>A
|
rs577301285
|
|
NM_000138.5(FBN1):c.5788+4C>T
|
rs577301285
|
|
NM_000138.5(FBN1):c.5791G>A (p.Val1931Ile)
|
rs1555395768
|
|
NM_000138.5(FBN1):c.5810G>C (p.Gly1937Ala)
|
rs1566898444
|
|
NM_000138.5(FBN1):c.5826C>A (p.Cys1942Ter)
|
rs363806
|
|
NM_000138.5(FBN1):c.5855G>T (p.Gly1952Val)
|
rs2141249218
|
|
NM_000138.5(FBN1):c.5865G>T (p.Gln1955His)
|
rs1292712431
|
|
NM_000138.5(FBN1):c.5875A>C (p.Asn1959His)
|
rs956702513
|
|
NM_000138.5(FBN1):c.5877T>A (p.Asn1959Lys)
|
rs1555395748
|
|
NM_000138.5(FBN1):c.5885A>G (p.Tyr1962Cys)
|
rs1346043320
|
|
NM_000138.5(FBN1):c.5891T>C (p.Val1964Ala)
|
rs1252001573
|
|
NM_000138.5(FBN1):c.5896C>T (p.Pro1966Ser)
|
rs2141249124
|
|
NM_000138.5(FBN1):c.589G>C (p.Gly197Arg)
|
rs886051251
|
|
NM_000138.5(FBN1):c.5902G>A (p.Gly1968Arg)
|
rs768997549
|
|
NM_000138.5(FBN1):c.5906G>T (p.Arg1969Met)
|
|
|
NM_000138.5(FBN1):c.5926G>A (p.Glu1976Lys)
|
|
|
NM_000138.5(FBN1):c.5927A>C (p.Glu1976Ala)
|
rs1555395665
|
|
NM_000138.5(FBN1):c.5927A>G (p.Glu1976Gly)
|
rs1555395665
|
|
NM_000138.5(FBN1):c.5954C>T (p.Ala1985Val)
|
|
|
NM_000138.5(FBN1):c.595C>G (p.Leu199Val)
|
rs1221144366
|
|
NM_000138.5(FBN1):c.5966G>T (p.Cys1989Phe)
|
rs1597531796
|
|
NM_000138.5(FBN1):c.5990G>A (p.Arg1997Lys)
|
rs2043139780
|
|
NM_000138.5(FBN1):c.5995A>C (p.Ile1999Leu)
|
|
|
NM_000138.5(FBN1):c.5995A>G (p.Ile1999Val)
|
rs183690919
|
|
NM_000138.5(FBN1):c.6005C>T (p.Pro2002Leu)
|
rs1566898093
|
|
NM_000138.5(FBN1):c.6017T>G (p.Leu2006Arg)
|
rs772214666
|
|
NM_000138.5(FBN1):c.6038-4T>A
|
rs2043117871
|
|
NM_000138.5(FBN1):c.6079G>C (p.Gly2027Arg)
|
rs1566897404
|
|
NM_000138.5(FBN1):c.6080G>T (p.Gly2027Val)
|
rs886038958
|
|
NM_000138.5(FBN1):c.6097G>A (p.Glu2033Lys)
|
|
|
NM_000138.5(FBN1):c.6134C>T (p.Ser2045Phe)
|
rs2043116675
|
|
NM_000138.5(FBN1):c.6139T>C (p.Ser2047Pro)
|
rs2043116606
|
|
NM_000138.5(FBN1):c.6143C>T (p.Ser2048Phe)
|
rs1566897382
|
|
NM_000138.5(FBN1):c.6147T>A (p.Ser2049Arg)
|
rs553959381
|
|
NM_000138.5(FBN1):c.6163+4A>C
|
rs2141245330
|
|
NM_000138.5(FBN1):c.6167T>G (p.Leu2056Trp)
|
|
|
NM_000138.5(FBN1):c.6170G>C (p.Arg2057Pro)
|
|
|
NM_000138.5(FBN1):c.6175A>C (p.Ser2059Arg)
|
|
|
NM_000138.5(FBN1):c.6185A>C (p.Tyr2062Ser)
|
rs1555395266
|
|
NM_000138.5(FBN1):c.6185A>G (p.Tyr2062Cys)
|
rs1555395266
|
|
NM_000138.5(FBN1):c.6185A>T (p.Tyr2062Phe)
|
|
|
NM_000138.5(FBN1):c.6191A>T (p.Lys2064Met)
|
rs2043085579
|
|
NM_000138.5(FBN1):c.6248G>C (p.Cys2083Ser)
|
rs1566896378
|
|
NM_000138.5(FBN1):c.6264G>C (p.Lys2088Asn)
|
rs886051247
|
|
NM_000138.5(FBN1):c.6274T>A (p.Trp2092Arg)
|
|
|
NM_000138.5(FBN1):c.6307C>G (p.Pro2103Ala)
|
rs2141241414
|
|
NM_000138.5(FBN1):c.6308C>A (p.Pro2103His)
|
|
|
NM_000138.5(FBN1):c.6313+3A>G
|
rs1555395256
|
|
NM_000138.5(FBN1):c.6317C>T (p.Ala2106Val)
|
|
|
NM_000138.5(FBN1):c.6322C>G (p.Arg2108Gly)
|
|
|
NM_000138.5(FBN1):c.6330A>G (p.Ile2110Met)
|
rs2043081649
|
|
NM_000138.5(FBN1):c.6347G>A (p.Gly2116Glu)
|
rs1555395226
|
|
NM_000138.5(FBN1):c.6349A>G (p.Ile2117Val)
|
rs572754741
|
|
NM_000138.5(FBN1):c.6355G>A (p.Val2119Met)
|
rs876660976
|
|
NM_000138.5(FBN1):c.6357G>C (p.Val2119=)
|
rs886051246
|
|
NM_000138.5(FBN1):c.6380-15T>A
|
rs2043078920
|
|
NM_000138.5(FBN1):c.6380A>T (p.Asp2127Val)
|
rs2141240523
|
|
NM_000138.5(FBN1):c.6403G>C (p.Asp2135His)
|
rs746167150
|
|
NM_000138.5(FBN1):c.6434C>A (p.Thr2145Lys)
|
|
|
NM_000138.5(FBN1):c.6440G>A (p.Gly2147Asp)
|
rs1597525958
|
|
NM_000138.5(FBN1):c.6446A>T (p.Tyr2149Phe)
|
rs113080385
|
|
NM_000138.5(FBN1):c.6449G>A (p.Arg2150His)
|
|
|
NM_000138.5(FBN1):c.6449G>T (p.Arg2150Leu)
|
rs794728250
|
|
NM_000138.5(FBN1):c.6455A>G (p.Glu2152Gly)
|
|
|
NM_000138.5(FBN1):c.6478G>A (p.Ala2160Thr)
|
rs2043077484
|
|
NM_000138.5(FBN1):c.6481G>C (p.Gly2161Arg)
|
rs2141240301
|
|
NM_000138.5(FBN1):c.6496G>A (p.Asp2166Asn)
|
rs794728252
|
|
NM_000138.5(FBN1):c.6505G>C (p.Glu2169Gln)
|
rs1013747861
|
|
NM_000138.5(FBN1):c.6523C>A (p.Pro2175Thr)
|
rs2043051465
|
|
NM_000138.5(FBN1):c.6533A>G (p.Asn2178Ser)
|
rs2141237126
|
|
NM_000138.5(FBN1):c.653G>A (p.Gly218Asp)
|
|
|
NM_000138.5(FBN1):c.6554T>C (p.Ile2185Thr)
|
rs910656654
|
|
NM_000138.5(FBN1):c.6565G>C (p.Glu2189Gln)
|
rs1566895264
|
|
NM_000138.5(FBN1):c.6582G>T (p.Glu2194Asp)
|
rs2043050683
|
|
NM_000138.5(FBN1):c.6586T>G (p.Phe2196Val)
|
rs2043050574
|
|
NM_000138.5(FBN1):c.6590A>C (p.Glu2197Ala)
|
rs763165301
|
|
NM_000138.5(FBN1):c.6591G>T (p.Glu2197Asp)
|
rs2141237031
|
|
NM_000138.5(FBN1):c.6605T>A (p.Met2202Lys)
|
rs2043050244
|
|
NM_000138.5(FBN1):c.6616+3A>G
|
rs2043049941
|
|
NM_000138.5(FBN1):c.6643C>A (p.Leu2215Met)
|
rs921997271
|
|
NM_000138.5(FBN1):c.6670A>C (p.Thr2224Pro)
|
|
|
NM_000138.5(FBN1):c.6682T>G (p.Tyr2228Asp)
|
|
|
NM_000138.5(FBN1):c.6686A>G (p.Glu2229Gly)
|
|
|
NM_000138.5(FBN1):c.6691A>C (p.Lys2231Gln)
|
rs1207479679
|
|
NM_000138.5(FBN1):c.6697C>T (p.Pro2233Ser)
|
rs794728255
|
|
NM_000138.5(FBN1):c.6707A>G (p.Tyr2236Cys)
|
rs368439899
|
|
NM_000138.5(FBN1):c.6707A>T (p.Tyr2236Phe)
|
rs368439899
|
|
NM_000138.5(FBN1):c.6732G>T (p.Met2244Ile)
|
rs780960909
|
|
NM_000138.5(FBN1):c.6739+3G>A
|
|
|
NM_000138.5(FBN1):c.673C>G (p.Pro225Ala)
|
rs2044025163
|
|
NM_000138.5(FBN1):c.6740-9T>G
|
rs2043018430
|
|
NM_000138.5(FBN1):c.6759G>C (p.Glu2253Asp)
|
rs2043018030
|
|
NM_000138.5(FBN1):c.6787A>G (p.Met2263Val)
|
rs2043017749
|
|
NM_000138.5(FBN1):c.6801C>T (p.Asn2267=)
|
rs886051245
|
|
NM_000138.5(FBN1):c.6806T>G (p.Ile2269Ser)
|
|
|
NM_000138.5(FBN1):c.6809G>A (p.Gly2270Asp)
|
rs1566894274
|
|
NM_000138.5(FBN1):c.6830G>A (p.Gly2277Glu)
|
rs2043017212
|
|
NM_000138.5(FBN1):c.6854A>G (p.Asp2285Gly)
|
rs1160071679
|
|
NM_000138.5(FBN1):c.6857G>A (p.Gly2286Glu)
|
rs1455580241
|
|
NM_000138.5(FBN1):c.6872-4A>G
|
rs1207038649
|
|
NM_000138.5(FBN1):c.6888G>T (p.Gln2296His)
|
rs363830
|
|
NM_000138.5(FBN1):c.6916C>A (p.Arg2306Ser)
|
|
|
NM_000138.5(FBN1):c.6956A>G (p.Asn2319Ser)
|
|
|
NM_000138.5(FBN1):c.6997+4A>G
|
rs727503055
|
|
NM_000138.5(FBN1):c.6998-22_6998-5del
|
|
|
NM_000138.5(FBN1):c.7025A>C (p.Glu2342Ala)
|
|
|
NM_000138.5(FBN1):c.7039A>G (p.Met2347Val)
|
rs1284375434
|
|
NM_000138.5(FBN1):c.7064G>A (p.Arg2355Lys)
|
rs376372763
|
|
NM_000138.5(FBN1):c.7067A>G (p.Asn2356Ser)
|
rs886038968
|
|
NM_000138.5(FBN1):c.706A>C (p.Ile236Leu)
|
|
|
NM_000138.5(FBN1):c.7106G>A (p.Arg2369Lys)
|
|
|
NM_000138.5(FBN1):c.7113G>T (p.Trp2371Cys)
|
rs886039063
|
|
NM_000138.5(FBN1):c.7115G>T (p.Gly2372Val)
|
rs112369155
|
|
NM_000138.5(FBN1):c.7122C>G (p.His2374Gln)
|
|
|
NM_000138.5(FBN1):c.7136C>T (p.Pro2379Leu)
|
rs1295154212
|
|
NM_000138.5(FBN1):c.7140C>A (p.Phe2380Leu)
|
rs2141228892
|
|
NM_000138.5(FBN1):c.716T>C (p.Ile239Thr)
|
|
|
NM_000138.5(FBN1):c.7176T>A (p.His2392Gln)
|
|
|
NM_000138.5(FBN1):c.7184G>T (p.Gly2395Val)
|
rs397515849
|
|
NM_000138.5(FBN1):c.7191G>T (p.Met2397Ile)
|
rs2042987428
|
|
NM_000138.5(FBN1):c.7193C>T (p.Thr2398Ile)
|
rs1169351376
|
|
NM_000138.5(FBN1):c.719G>A (p.Arg240His)
|
rs768744583
|
|
NM_000138.5(FBN1):c.719G>C (p.Arg240Pro)
|
|
|
NM_000138.5(FBN1):c.719G>T (p.Arg240Leu)
|
|
|
NM_000138.5(FBN1):c.7201G>T (p.Ala2401Ser)
|
rs771260695
|
|
NM_000138.5(FBN1):c.7204+3A>G
|
rs1057518076
|
|
NM_000138.5(FBN1):c.7228C>G (p.His2410Asp)
|
rs548057493
|
|
NM_000138.5(FBN1):c.723G>A (p.Thr241=)
|
rs757264206
|
|
NM_000138.5(FBN1):c.7267G>A (p.Gly2423Arg)
|
|
|
NM_000138.5(FBN1):c.7310T>C (p.Ile2437Thr)
|
rs2141226872
|
|
NM_000138.5(FBN1):c.7327G>A (p.Val2443Ile)
|
|
|
NM_000138.5(FBN1):c.7330+3_7330+6del
|
rs1597516325
|
|
NM_000138.5(FBN1):c.7336A>G (p.Asn2446Asp)
|
|
|
NM_000138.5(FBN1):c.7366A>C (p.Asn2456His)
|
rs2141226433
|
|
NM_000138.5(FBN1):c.7367A>G (p.Asn2456Ser)
|
rs2042971753
|
|
NM_000138.5(FBN1):c.7372A>G (p.Ile2458Val)
|
|
|
NM_000138.5(FBN1):c.7374C>G (p.Ile2458Met)
|
rs2042971724
|
|
NM_000138.5(FBN1):c.7382A>G (p.Asn2461Ser)
|
rs1555394405
|
|
NM_000138.5(FBN1):c.7397A>G (p.Tyr2466Cys)
|
rs1555394403
|
|
NM_000138.5(FBN1):c.7406C>T (p.Ser2469Leu)
|
rs2141226337
|
|
NM_000138.5(FBN1):c.7412C>T (p.Pro2471Leu)
|
rs193922233
|
|
NM_000138.5(FBN1):c.7425T>G (p.Ile2475Met)
|
|
|
NM_000138.5(FBN1):c.7446C>G (p.Ser2482Arg)
|
rs2042970897
|
|
NM_000138.5(FBN1):c.7453+3A>C
|
|
|
NM_000138.5(FBN1):c.7454-4G>T
|
rs1365010331
|
|
NM_000138.5(FBN1):c.7460A>G (p.Asp2487Gly)
|
|
|
NM_000138.5(FBN1):c.7471A>G (p.Thr2491Ala)
|
rs761602510
|
|
NM_000138.5(FBN1):c.74C>T (p.Ala25Val)
|
|
|
NM_000138.5(FBN1):c.7507A>C (p.Thr2503Pro)
|
|
|
NM_000138.5(FBN1):c.7508C>T (p.Thr2503Ile)
|
rs749654334
|
|
NM_000138.5(FBN1):c.7510A>T (p.Ile2504Phe)
|
rs1223532755
|
|
NM_000138.5(FBN1):c.7522A>G (p.Thr2508Ala)
|
rs1034405424
|
|
NM_000138.5(FBN1):c.7547C>T (p.Thr2516Ile)
|
rs2042946390
|
|
NM_000138.5(FBN1):c.7553A>G (p.His2518Arg)
|
|
|
NM_000138.5(FBN1):c.7554C>A (p.His2518Gln)
|
rs2042946233
|
|
NM_000138.5(FBN1):c.7570+3G>T
|
rs771716341
|
|
NM_000138.5(FBN1):c.7577A>G (p.Asn2526Ser)
|
rs794728336
|
|
NM_000138.5(FBN1):c.7606G>T (p.Gly2536Trp)
|
rs397515854
|
|
NM_000138.5(FBN1):c.7637G>A (p.Gly2546Glu)
|
|
|
NM_000138.5(FBN1):c.7637G>T (p.Gly2546Val)
|
|
|
NM_000138.5(FBN1):c.7646C>T (p.Thr2549Ile)
|
rs2042942480
|
|
NM_000138.5(FBN1):c.7648T>A (p.Cys2550Ser)
|
rs1566891675
|
|
NM_000138.5(FBN1):c.7660C>G (p.Arg2554Gly)
|
rs369294972
|
|
NM_000138.5(FBN1):c.7666T>G (p.Phe2556Val)
|
rs193922234
|
|
NM_000138.5(FBN1):c.7676A>T (p.Asp2559Val)
|
rs1289740895
|
|
NM_000138.5(FBN1):c.7684G>T (p.Gly2562Cys)
|
|
|
NM_000138.5(FBN1):c.7685G>C (p.Gly2562Ala)
|
rs867067196
|
|
NM_000138.5(FBN1):c.7700-9C>G
|
rs772261791
|
|
NM_000138.5(FBN1):c.7706A>T (p.Asp2569Val)
|
|
|
NM_000138.5(FBN1):c.7707_7709del (p.Asp2569del)
|
|
|
NM_000138.5(FBN1):c.7714G>A (p.Glu2572Lys)
|
rs2141220835
|
|
NM_000138.5(FBN1):c.7762T>C (p.Tyr2588His)
|
|
|
NM_000138.5(FBN1):c.7784G>T (p.Gly2595Val)
|
rs397515857
|
|
NM_000138.5(FBN1):c.778G>A (p.Gly260Arg)
|
rs2043995400
|
|
NM_000138.5(FBN1):c.7802A>G (p.Gln2601Arg)
|
rs1455161701
|
|
NM_000138.5(FBN1):c.7804T>C (p.Trp2602Arg)
|
rs2042933803
|
|
NM_000138.5(FBN1):c.7820-3C>A
|
rs193922237
|
|
NM_000138.5(FBN1):c.782A>G (p.Asn261Ser)
|
rs1555401459
|
|
NM_000138.5(FBN1):c.782A>T (p.Asn261Ile)
|
rs1555401459
|
|
NM_000138.5(FBN1):c.7840G>A (p.Ala2614Thr)
|
rs1280320763
|
|
NM_000138.5(FBN1):c.7858G>C (p.Ala2620Pro)
|
|
|
NM_000138.5(FBN1):c.7876C>G (p.Leu2626Val)
|
rs2042898824
|
|
NM_000138.5(FBN1):c.7880G>C (p.Gly2627Ala)
|
rs1555393875
|
|
NM_000138.5(FBN1):c.7895T>C (p.Met2632Thr)
|
|
|
NM_000138.5(FBN1):c.7901C>G (p.Pro2634Arg)
|
rs2042898369
|
|
NM_000138.5(FBN1):c.7915T>C (p.Tyr2639His)
|
rs2042898051
|
|
NM_000138.5(FBN1):c.7918G>A (p.Glu2640Lys)
|
rs2042897958
|
|
NM_000138.5(FBN1):c.7922A>C (p.Gln2641Pro)
|
rs2141214864
|
|
NM_000138.5(FBN1):c.7951G>C (p.Glu2651Gln)
|
rs1555393859
|
|
NM_000138.5(FBN1):c.7973C>G (p.Pro2658Arg)
|
rs1348007486
|
|
NM_000138.5(FBN1):c.7973C>T (p.Pro2658Leu)
|
rs1348007486
|
|
NM_000138.5(FBN1):c.7991C>T (p.Ser2664Phe)
|
rs2042896586
|
|
NM_000138.5(FBN1):c.7994A>G (p.Asn2665Ser)
|
rs763173031
|
|
NM_000138.5(FBN1):c.799G>C (p.Gly267Arg)
|
rs2141353715
|
|
NM_000138.5(FBN1):c.8005G>A (p.Gly2669Ser)
|
rs794728281
|
|
NM_000138.5(FBN1):c.8011C>T (p.Leu2671=)
|
rs886051244
|
|
NM_000138.5(FBN1):c.8017G>A (p.Gly2673Ser)
|
rs894550222
|
|
NM_000138.5(FBN1):c.8059G>T (p.Val2687Phe)
|
rs1464168530
|
|
NM_000138.5(FBN1):c.8068A>T (p.Met2690Leu)
|
rs2042873822
|
|
NM_000138.5(FBN1):c.806T>C (p.Phe269Ser)
|
rs951026080
|
|
NM_000138.5(FBN1):c.8080C>G (p.Arg2694Gly)
|
rs200309328
|
|
NM_000138.5(FBN1):c.8081G>A (p.Arg2694Gln)
|
rs371375126
|
|
NM_000138.5(FBN1):c.808G>C (p.Glu270Gln)
|
rs2043994842
|
|
NM_000138.5(FBN1):c.8098C>T (p.Pro2700Ser)
|
|
|
NM_000138.5(FBN1):c.8101G>A (p.Val2701Ile)
|
rs753925682
|
|
NM_000138.5(FBN1):c.8107G>A (p.Gly2703Ser)
|
|
|
NM_000138.5(FBN1):c.8108G>T (p.Gly2703Val)
|
rs794728284
|
|
NM_000138.5(FBN1):c.8126C>T (p.Ser2709Leu)
|
rs2042873190
|
|
NM_000138.5(FBN1):c.8140G>A (p.Ala2714Thr)
|
rs766170041
|
|
NM_000138.5(FBN1):c.815A>G (p.Lys272Arg)
|
rs777025292
|
|
NM_000138.5(FBN1):c.8180G>A (p.Gly2727Asp)
|
rs2042872481
|
|
NM_000138.5(FBN1):c.8185A>C (p.Lys2729Gln)
|
rs370096856
|
|
NM_000138.5(FBN1):c.8188C>T (p.Arg2730Trp)
|
rs1371152380
|
|
NM_000138.5(FBN1):c.8197A>G (p.Thr2733Ala)
|
|
|
NM_000138.5(FBN1):c.8207C>G (p.Thr2736Ser)
|
rs2141211539
|
|
NM_000138.5(FBN1):c.821C>A (p.Pro274His)
|
rs1085307537
|
|
NM_000138.5(FBN1):c.8226+6T>A
|
|
|
NM_000138.5(FBN1):c.8227G>A (p.Asp2743Asn)
|
|
|
NM_000138.5(FBN1):c.8232G>C (p.Gln2744His)
|
rs376119827
|
|
NM_000138.5(FBN1):c.8236G>A (p.Glu2746Lys)
|
rs2042862302
|
|
NM_000138.5(FBN1):c.8239A>G (p.Thr2747Ala)
|
rs2042862271
|
|
NM_000138.5(FBN1):c.8249A>C (p.Asn2750Thr)
|
|
|
NM_000138.5(FBN1):c.8255G>A (p.Ser2752Asn)
|
rs2042861973
|
|
NM_000138.5(FBN1):c.8263A>G (p.Ser2755Gly)
|
rs2141210090
|
|
NM_000138.5(FBN1):c.8267G>T (p.Trp2756Leu)
|
rs397515861
|
|
NM_000138.5(FBN1):c.8326C>G (p.Arg2776Gly)
|
rs137854466
|
|
NM_000138.5(FBN1):c.8339T>A (p.Leu2780His)
|
|
|
NM_000138.5(FBN1):c.8356A>G (p.Thr2786Ala)
|
rs781352764
|
|
NM_000138.5(FBN1):c.8365A>C (p.Asn2789His)
|
rs2042859991
|
|
NM_000138.5(FBN1):c.8368C>T (p.His2790Tyr)
|
|
|
NM_000138.5(FBN1):c.8401G>C (p.Asp2801His)
|
rs868087455
|
|
NM_000138.5(FBN1):c.8402A>C (p.Asp2801Ala)
|
rs2042859370
|
|
NM_000138.5(FBN1):c.8431G>T (p.Gly2811Trp)
|
|
|
NM_000138.5(FBN1):c.8432G>A (p.Gly2811Glu)
|
rs2042858918
|
|
NM_000138.5(FBN1):c.843A>T (p.Glu281Asp)
|
rs772218768
|
|
NM_000138.5(FBN1):c.8447A>G (p.His2816Arg)
|
rs1555393532
|
|
NM_000138.5(FBN1):c.8468T>C (p.Val2823Ala)
|
rs2042858248
|
|
NM_000138.5(FBN1):c.8480A>C (p.Tyr2827Ser)
|
rs794728287
|
|
NM_000138.5(FBN1):c.8493C>G (p.Ile2831Met)
|
rs2042857820
|
|
NM_000138.5(FBN1):c.8498G>C (p.Ser2833Thr)
|
rs549604448
|
|
NM_000138.5(FBN1):c.8501C>T (p.Thr2834Ile)
|
rs2042857660
|
|
NM_000138.5(FBN1):c.8503C>A (p.Pro2835Thr)
|
|
|
NM_000138.5(FBN1):c.8510A>G (p.Tyr2837Cys)
|
rs2042857475
|
|
NM_000138.5(FBN1):c.8545T>A (p.Tyr2849Asn)
|
rs2042856906
|
|
NM_000138.5(FBN1):c.8554G>A (p.Asp2852Asn)
|
rs2141209534
|
|
NM_000138.5(FBN1):c.8567G>A (p.Gly2856Asp)
|
rs2141209510
|
|
NM_000138.5(FBN1):c.8579A>G (p.Asp2860Gly)
|
rs368599541
|
|
NM_000138.5(FBN1):c.8591T>A (p.Met2864Lys)
|
rs1060501028
|
|
NM_000138.5(FBN1):c.8595A>C (p.Lys2865Asn)
|
rs2042856403
|
|
NM_000138.5(FBN1):c.8603T>A (p.Val2868Asp)
|
rs1555393485
|
|
NM_000138.5(FBN1):c.8608C>T (p.Leu2870Phe)
|
rs2042856175
|
|
NM_000138.5(FBN1):c.862G>A (p.Asp288Asn)
|
|
|
NM_000138.5(FBN1):c.866T>C (p.Ile289Thr)
|
|
|
NM_000138.5(FBN1):c.916A>G (p.Asn306Asp)
|
rs2043912750
|
|
NM_000138.5(FBN1):c.926G>A (p.Ser309Asn)
|
rs2043912515
|
|
NM_000138.5(FBN1):c.934T>C (p.Phe312Leu)
|
rs1566919646
|
|
NM_000138.5(FBN1):c.937T>C (p.Cys313Arg)
|
rs2141343372
|
|
NM_000138.5(FBN1):c.949C>T (p.Pro317Ser)
|
rs764470069
|
|
NM_000138.5(FBN1):c.971A>G (p.Asp324Gly)
|
rs763079155
|
|
NM_000138.5(FBN1):c.971A>T (p.Asp324Val)
|
rs763079155
|
|
NM_000138.5(FBN1):c.976A>G (p.Thr326Ala)
|
rs760637902
|
|
NM_000138.5(FBN1):c.988+9A>C
|
rs1566919590
|
|
NM_000138.5(FBN1):c.989-6C>A
|
|
|
NM_000138.5(FBN1):c.989A>T (p.Asp330Val)
|
|
|
NM_000302.4(PLOD1):c.*4G>A
|
rs750397415
|
|
NM_000302.4(PLOD1):c.*4G>T
|
rs750397415
|
|
NM_000302.4(PLOD1):c.-9_2del (p.Met1fs)
|
rs747037908
|
|
NM_000302.4(PLOD1):c.1118G>A (p.Arg373His)
|
|
|
NM_000302.4(PLOD1):c.1141G>T (p.Val381Leu)
|
rs2230896
|
|
NM_000302.4(PLOD1):c.1145A>G (p.Asp382Gly)
|
rs998178222
|
|
NM_000302.4(PLOD1):c.1156G>A (p.Ala386Thr)
|
|
|
NM_000302.4(PLOD1):c.1176C>A (p.Ser392Arg)
|
|
|
NM_000302.4(PLOD1):c.1213G>T (p.Ala405Ser)
|
|
|
NM_000302.4(PLOD1):c.1214C>T (p.Ala405Val)
|
|
|
NM_000302.4(PLOD1):c.1216C>G (p.Pro406Ala)
|
rs760764359
|
|
NM_000302.4(PLOD1):c.1216C>T (p.Pro406Ser)
|
rs760764359
|
|
NM_000302.4(PLOD1):c.1228C>G (p.Arg410Gly)
|
|
|
NM_000302.4(PLOD1):c.1229G>A (p.Arg410Gln)
|
rs371001571
|
|
NM_000302.4(PLOD1):c.1256G>C (p.Trp419Ser)
|
|
|
NM_000302.4(PLOD1):c.125G>A (p.Arg42His)
|
rs202116614
|
|
NM_000302.4(PLOD1):c.1261G>A (p.Ala421Thr)
|
|
|
NM_000302.4(PLOD1):c.1271C>T (p.Ala424Val)
|
|
|
NM_000302.4(PLOD1):c.1366T>G (p.Leu456Val)
|
|
|
NM_000302.4(PLOD1):c.1419C>A (p.His473Gln)
|
|
|
NM_000302.4(PLOD1):c.1441A>G (p.Met481Val)
|
rs2100758386
|
|
NM_000302.4(PLOD1):c.1451G>C (p.Cys484Ser)
|
rs1490187110
|
|
NM_000302.4(PLOD1):c.153C>G (p.Phe51Leu)
|
|
|
NM_000302.4(PLOD1):c.1544A>G (p.His515Arg)
|
|
|
NM_000302.4(PLOD1):c.155A>G (p.Asn52Ser)
|
|
|
NM_000302.4(PLOD1):c.1591A>C (p.Lys531Gln)
|
|
|
NM_000302.4(PLOD1):c.1598A>G (p.Lys533Arg)
|
|
|
NM_000302.4(PLOD1):c.1615T>C (p.Tyr539His)
|
|
|
NM_000302.4(PLOD1):c.1631_1632delinsGC (p.Ala544Gly)
|
|
|
NM_000302.4(PLOD1):c.1670G>C (p.Trp557Ser)
|
rs1052289406
|
|
NM_000302.4(PLOD1):c.1672T>C (p.Phe558Leu)
|
|
|
NM_000302.4(PLOD1):c.1745G>A (p.Gly582Asp)
|
|
|
NM_000302.4(PLOD1):c.1748A>G (p.Asn583Ser)
|
|
|
NM_000302.4(PLOD1):c.1762C>T (p.Arg588Cys)
|
|
|
NM_000302.4(PLOD1):c.1769A>G (p.Gln590Arg)
|
|
|
NM_000302.4(PLOD1):c.1785C>A (p.Asn595Lys)
|
rs771350321
|
|
NM_000302.4(PLOD1):c.1786G>A (p.Val596Met)
|
|
|
NM_000302.4(PLOD1):c.1806C>G (p.His602Gln)
|
|
|
NM_000302.4(PLOD1):c.1808T>A (p.Met603Lys)
|
|
|
NM_000302.4(PLOD1):c.1839C>A (p.His613Gln)
|
rs768638113
|
|
NM_000302.4(PLOD1):c.1871C>T (p.Thr624Met)
|
rs760314787
|
|
NM_000302.4(PLOD1):c.1878G>T (p.Lys626Asn)
|
|
|
NM_000302.4(PLOD1):c.1931G>A (p.Arg644His)
|
|
|
NM_000302.4(PLOD1):c.1945G>A (p.Glu649Lys)
|
|
|
NM_000302.4(PLOD1):c.1961T>C (p.Met654Thr)
|
|
|
NM_000302.4(PLOD1):c.1969C>T (p.His657Tyr)
|
|
|
NM_000302.4(PLOD1):c.1982C>T (p.Thr661Ile)
|
|
|
NM_000302.4(PLOD1):c.1998C>G (p.Ile666Met)
|
|
|
NM_000302.4(PLOD1):c.2028+3G>T
|
|
|
NM_000302.4(PLOD1):c.2063C>G (p.Ser688Cys)
|
|
|
NM_000302.4(PLOD1):c.2068_2069delinsGT (p.Arg690Val)
|
rs1553137685
|
|
NM_000302.4(PLOD1):c.2108G>A (p.Arg703Gln)
|
|
|
NM_000302.4(PLOD1):c.2153G>A (p.Arg718His)
|
|
|
NM_000302.4(PLOD1):c.2176G>A (p.Asp726Asn)
|
|
|
NM_000302.4(PLOD1):c.217G>A (p.Gly73Ser)
|
|
|
NM_000302.4(PLOD1):c.268G>A (p.Asp90Asn)
|
|
|
NM_000302.4(PLOD1):c.315_317del (p.Phe106del)
|
rs770511543
|
|
NM_000302.4(PLOD1):c.323C>T (p.Ser108Leu)
|
rs549517196
|
|
NM_000302.4(PLOD1):c.338T>C (p.Leu113Pro)
|
|
|
NM_000302.4(PLOD1):c.364A>T (p.Ser122Cys)
|
|
|
NM_000302.4(PLOD1):c.391C>T (p.Leu131Phe)
|
|
|
NM_000302.4(PLOD1):c.395T>C (p.Ile132Thr)
|
|
|
NM_000302.4(PLOD1):c.439G>A (p.Asp147Asn)
|
|
|
NM_000302.4(PLOD1):c.449G>C (p.Arg150Thr)
|
|
|
NM_000302.4(PLOD1):c.535G>A (p.Asp179Asn)
|
rs188165334
|
|
NM_000302.4(PLOD1):c.535G>C (p.Asp179His)
|
rs188165334
|
|
NM_000302.4(PLOD1):c.567_572del (p.Asp189_Pro190del)
|
rs775053632
|
|
NM_000302.4(PLOD1):c.579G>T (p.Arg193Ser)
|
rs1553134266
|
|
NM_000302.4(PLOD1):c.613C>G (p.Arg205Gly)
|
|
|
NM_000302.4(PLOD1):c.644-3C>T
|
|
|
NM_000302.4(PLOD1):c.64G>T (p.Ala22Ser)
|
|
|
NM_000302.4(PLOD1):c.652G>A (p.Val218Met)
|
rs372534520
|
|
NM_000302.4(PLOD1):c.656T>C (p.Leu219Pro)
|
rs1392799816
|
|
NM_000302.4(PLOD1):c.668T>C (p.Met223Thr)
|
|
|
NM_000302.4(PLOD1):c.670G>A (p.Gly224Ser)
|
|
|
NM_000302.4(PLOD1):c.674A>G (p.His225Arg)
|
rs1176136454
|
|
NM_000302.4(PLOD1):c.702C>G (p.Asp234Glu)
|
rs566018612
|
|
NM_000302.4(PLOD1):c.70C>A (p.Pro24Thr)
|
|
|
NM_000302.4(PLOD1):c.722A>G (p.His241Arg)
|
|
|
NM_000302.4(PLOD1):c.730G>A (p.Gly244Arg)
|
|
|
NM_000302.4(PLOD1):c.73G>C (p.Glu25Gln)
|
|
|
NM_000302.4(PLOD1):c.790G>A (p.Glu264Lys)
|
|
|
NM_000302.4(PLOD1):c.821T>C (p.Leu274Ser)
|
|
|
NM_000302.4(PLOD1):c.823C>T (p.Arg275Cys)
|
|
|
NM_000302.4(PLOD1):c.911T>A (p.Phe304Tyr)
|
|
|
NM_000302.4(PLOD1):c.956G>A (p.Arg319Gln)
|
|
|
NM_000302.4(PLOD1):c.976-3C>T
|
rs1198690797
|
|
NM_000393.5(COL5A2):c.1005+4T>C
|
|
|
NM_000393.5(COL5A2):c.1021C>T (p.Pro341Ser)
|
rs538602187
|
|
NM_000393.5(COL5A2):c.1184G>A (p.Arg395Gln)
|
rs766119748
|
|
NM_000393.5(COL5A2):c.134G>A (p.Gly45Asp)
|
|
|
NM_000393.5(COL5A2):c.1354C>T (p.Pro452Ser)
|
|
|
NM_000393.5(COL5A2):c.1394G>T (p.Gly465Val)
|
rs886039081
|
|
NM_000393.5(COL5A2):c.141G>A (p.Met47Ile)
|
rs1553519048
|
|
NM_000393.5(COL5A2):c.1577A>G (p.Asn526Ser)
|
rs1553515522
|
|
NM_000393.5(COL5A2):c.1588C>G (p.Pro530Ala)
|
rs772872008
|
|
NM_000393.5(COL5A2):c.1627G>A (p.Gly543Arg)
|
|
|
NM_000393.5(COL5A2):c.1642G>A (p.Val548Ile)
|
|
|
NM_000393.5(COL5A2):c.1658C>A (p.Pro553His)
|
rs149203102
|
|
NM_000393.5(COL5A2):c.1693G>C (p.Glu565Gln)
|
rs730880066
|
|
NM_000393.5(COL5A2):c.16G>T (p.Ala6Ser)
|
rs372910621
|
|
NM_000393.5(COL5A2):c.1808G>A (p.Gly603Asp)
|
|
|
NM_000393.5(COL5A2):c.1808G>C (p.Gly603Ala)
|
rs1553515338
|
|
NM_000393.5(COL5A2):c.1913C>T (p.Pro638Leu)
|
|
|
NM_000393.5(COL5A2):c.191G>C (p.Cys64Ser)
|
|
|
NM_000393.5(COL5A2):c.2009C>A (p.Pro670His)
|
|
|
NM_000393.5(COL5A2):c.2200G>A (p.Ala734Thr)
|
|
|
NM_000393.5(COL5A2):c.2341G>A (p.Gly781Ser)
|
rs781215270
|
|
NM_000393.5(COL5A2):c.247G>T (p.Ala83Ser)
|
rs1553519033
|
|
NM_000393.5(COL5A2):c.2489G>C (p.Arg830Pro)
|
|
|
NM_000393.5(COL5A2):c.2506C>G (p.Arg836Gly)
|
rs367718811
|
|
NM_000393.5(COL5A2):c.2521C>T (p.Pro841Ser)
|
|
|
NM_000393.5(COL5A2):c.2557C>A (p.Pro853Thr)
|
rs863223506
|
|
NM_000393.5(COL5A2):c.2634A>T (p.Gln878His)
|
|
|
NM_000393.5(COL5A2):c.271G>C (p.Glu91Gln)
|
rs730880065
|
|
NM_000393.5(COL5A2):c.2831G>C (p.Arg944Pro)
|
rs761988412
|
|
NM_000393.5(COL5A2):c.2849A>G (p.His950Arg)
|
rs761035694
|
|
NM_000393.5(COL5A2):c.2867G>A (p.Arg956Gln)
|
|
|
NM_000393.5(COL5A2):c.3049G>C (p.Gly1017Arg)
|
|
|
NM_000393.5(COL5A2):c.3056T>C (p.Val1019Ala)
|
|
|
NM_000393.5(COL5A2):c.3061C>A (p.Pro1021Thr)
|
|
|
NM_000393.5(COL5A2):c.3200G>C (p.Arg1067Pro)
|
|
|
NM_000393.5(COL5A2):c.3310-4T>G
|
rs2153507285
|
|
NM_000393.5(COL5A2):c.3338G>T (p.Gly1113Val)
|
rs981465775
|
|
NM_000393.5(COL5A2):c.3472-3T>A
|
|
|
NM_000393.5(COL5A2):c.3493A>G (p.Ser1165Gly)
|
|
|
NM_000393.5(COL5A2):c.34C>T (p.Leu12Phe)
|
rs768807471
|
|
NM_000393.5(COL5A2):c.3521C>T (p.Pro1174Leu)
|
|
|
NM_000393.5(COL5A2):c.3592C>T (p.Pro1198Ser)
|
|
|
NM_000393.5(COL5A2):c.3649C>T (p.Pro1217Ser)
|
|
|
NM_000393.5(COL5A2):c.3689C>T (p.Thr1230Ile)
|
|
|
NM_000393.5(COL5A2):c.3707T>A (p.Ile1236Asn)
|
|
|
NM_000393.5(COL5A2):c.3737A>G (p.Asp1246Gly)
|
|
|
NM_000393.5(COL5A2):c.3829A>G (p.Ser1277Gly)
|
|
|
NM_000393.5(COL5A2):c.3967G>A (p.Ala1323Thr)
|
|
|
NM_000393.5(COL5A2):c.4096A>G (p.Met1366Val)
|
rs372226064
|
|
NM_000393.5(COL5A2):c.439G>A (p.Gly147Arg)
|
|
|
NM_000393.5(COL5A2):c.4409C>T (p.Ala1470Val)
|
rs140109751
|
|
NM_000393.5(COL5A2):c.4423A>G (p.Ile1475Val)
|
rs886039069
|
|
NM_000393.5(COL5A2):c.4424T>C (p.Ile1475Thr)
|
|
|
NM_000393.5(COL5A2):c.454C>A (p.Pro152Thr)
|
rs1553518198
|
|
NM_000393.5(COL5A2):c.569C>T (p.Pro190Leu)
|
rs774969990
|
|
NM_000393.5(COL5A2):c.586G>C (p.Ala196Pro)
|
rs142855115
|
|
NM_000393.5(COL5A2):c.668C>A (p.Pro223Gln)
|
|
|
NM_000393.5(COL5A2):c.680A>G (p.Gln227Arg)
|
rs1553517410
|
|
NM_000393.5(COL5A2):c.797A>T (p.Asp266Val)
|
|
|
NM_000393.5(COL5A2):c.897G>C (p.Lys299Asn)
|
|
|
NM_000393.5(COL5A2):c.905G>C (p.Arg302Pro)
|
rs545574407
|
|
NM_000393.5(COL5A2):c.964G>A (p.Glu322Lys)
|
|
|
NM_000393.5(COL5A2):c.983C>T (p.Pro328Leu)
|
|
|
NM_000393.5(COL5A2):c.989G>A (p.Gly330Asp)
|
rs753514566
|
|
NM_001040113.2(MYH11):c.5812C>T (p.Pro1938Ser)
|
rs2039614500
|
|
NM_001040113.2(MYH11):c.5813C>T (p.Pro1938Leu)
|
rs765030635
|
|
NM_001040113.2(MYH11):c.5818C>T (p.Pro1940Ser)
|
rs200884440
|
|
NM_001040113.2(MYH11):c.5819C>T (p.Pro1940Leu)
|
rs111588143
|
|
NM_001040113.2(MYH11):c.5819dup (p.Gln1941fs)
|
rs747392139
|
|
NM_001040113.2(MYH11):c.5833C>T (p.Gln1945Ter)
|
rs370858630
|
|
NM_001040113.2(MYH11):c.644C>G (p.Ser215Cys)
|
rs2042428776
|
|
NM_001040113.2(MYH11):c.644C>T (p.Ser215Phe)
|
|
|
NM_001040113.2(MYH11):c.654+1G>A
|
rs770424951
|
|
NM_001110556.2(FLNA):c.1019G>C (p.Arg340Pro)
|
|
|
NM_001110556.2(FLNA):c.1165C>T (p.Pro389Ser)
|
rs2148117979
|
|
NM_001110556.2(FLNA):c.1342C>T (p.Pro448Ser)
|
|
|
NM_001110556.2(FLNA):c.1366G>A (p.Val456Met)
|
rs782495199
|
|
NM_001110556.2(FLNA):c.1387G>T (p.Val463Leu)
|
|
|
NM_001110556.2(FLNA):c.1516T>C (p.Tyr506His)
|
|
|
NM_001110556.2(FLNA):c.1609G>C (p.Val537Leu)
|
rs782067087
|
|
NM_001110556.2(FLNA):c.1635G>A (p.Met545Ile)
|
|
|
NM_001110556.2(FLNA):c.1698C>G (p.Phe566Leu)
|
rs781830848
|
|
NM_001110556.2(FLNA):c.1769T>G (p.Val590Gly)
|
|
|
NM_001110556.2(FLNA):c.1799A>G (p.Glu600Gly)
|
rs1603362451
|
|
NM_001110556.2(FLNA):c.1807G>T (p.Gly603Trp)
|
rs200116438
|
|
NM_001110556.2(FLNA):c.1883A>T (p.Asp628Val)
|
|
|
NM_001110556.2(FLNA):c.188G>T (p.Arg63Leu)
|
|
|
NM_001110556.2(FLNA):c.1939G>T (p.Val647Leu)
|
|
|
NM_001110556.2(FLNA):c.1997C>G (p.Ala666Gly)
|
rs374295965
|
|
NM_001110556.2(FLNA):c.2171A>G (p.Lys724Arg)
|
|
|
NM_001110556.2(FLNA):c.2203T>C (p.Tyr735His)
|
|
|
NM_001110556.2(FLNA):c.2280+5G>A
|
|
|
NM_001110556.2(FLNA):c.2360A>G (p.His787Arg)
|
|
|
NM_001110556.2(FLNA):c.2447G>C (p.Gly816Ala)
|
|
|
NM_001110556.2(FLNA):c.2493T>A (p.Asn831Lys)
|
|
|
NM_001110556.2(FLNA):c.25G>T (p.Gly9Cys)
|
rs782292045
|
|
NM_001110556.2(FLNA):c.2629G>C (p.Ala877Pro)
|
rs377046577
|
|
NM_001110556.2(FLNA):c.2632G>A (p.Glu878Lys)
|
rs1569551740
|
|
NM_001110556.2(FLNA):c.2909A>G (p.Asp970Gly)
|
|
|
NM_001110556.2(FLNA):c.29A>C (p.Gln10Pro)
|
|
|
NM_001110556.2(FLNA):c.3127G>T (p.Val1043Leu)
|
rs1475916528
|
|
NM_001110556.2(FLNA):c.3212A>C (p.Lys1071Thr)
|
|
|
NM_001110556.2(FLNA):c.3234G>C (p.Gln1078His)
|
rs1569551691
|
|
NM_001110556.2(FLNA):c.331C>G (p.Leu111Val)
|
|
|
NM_001110556.2(FLNA):c.34G>A (p.Ala12Thr)
|
|
|
NM_001110556.2(FLNA):c.3619G>A (p.Val1207Met)
|
|
|
NM_001110556.2(FLNA):c.3638G>A (p.Gly1213Asp)
|
rs886038999
|
|
NM_001110556.2(FLNA):c.3709G>A (p.Gly1237Ser)
|
|
|
NM_001110556.2(FLNA):c.3775C>G (p.Gln1259Glu)
|
|
|
NM_001110556.2(FLNA):c.4147G>A (p.Ala1383Thr)
|
|
|
NM_001110556.2(FLNA):c.4465G>C (p.Gly1489Arg)
|
rs782276039
|
|
NM_001110556.2(FLNA):c.4520A>G (p.Gln1507Arg)
|
|
|
NM_001110556.2(FLNA):c.4525G>A (p.Val1509Ile)
|
rs782018054
|
|
NM_001110556.2(FLNA):c.4525G>T (p.Val1509Phe)
|
|
|
NM_001110556.2(FLNA):c.4544G>A (p.Arg1515Gln)
|
rs782597696
|
|
NM_001110556.2(FLNA):c.4612A>G (p.Lys1538Glu)
|
|
|
NM_001110556.2(FLNA):c.4749G>C (p.Gln1583His)
|
|
|
NM_001110556.2(FLNA):c.4834G>A (p.Val1612Met)
|
rs782082407
|
|
NM_001110556.2(FLNA):c.487G>A (p.Ala163Thr)
|
rs1569551875
|
|
NM_001110556.2(FLNA):c.4919G>C (p.Gly1640Ala)
|
|
|
NM_001110556.2(FLNA):c.5075_5092dup (p.Asp1692_Asp1697dup)
|
rs781960834
|
|
NM_001110556.2(FLNA):c.5129TCT[1] (p.Phe1711del)
|
|
|
NM_001110556.2(FLNA):c.5140G>A (p.Ala1714Thr)
|
rs886039102
|
|
NM_001110556.2(FLNA):c.5184C>T (p.Gly1728=)
|
rs2148107375
|
|
NM_001110556.2(FLNA):c.5252C>T (p.Pro1751Leu)
|
|
|
NM_001110556.2(FLNA):c.5261C>T (p.Ser1754Phe)
|
rs1557176515
|
|
NM_001110556.2(FLNA):c.5506G>A (p.Glu1836Lys)
|
rs1557176399
|
|
NM_001110556.2(FLNA):c.5659A>G (p.Thr1887Ala)
|
rs886039107
|
|
NM_001110556.2(FLNA):c.5734T>G (p.Cys1912Gly)
|
|
|
NM_001110556.2(FLNA):c.5873T>G (p.Met1958Arg)
|
rs587780336
|
|
NM_001110556.2(FLNA):c.5933C>T (p.Thr1978Met)
|
rs1603359437
|
|
NM_001110556.2(FLNA):c.6085C>T (p.His2029Tyr)
|
|
|
NM_001110556.2(FLNA):c.6372C>G (p.His2124Gln)
|
rs781999359
|
|
NM_001110556.2(FLNA):c.6411G>A (p.Glu2137=)
|
|
|
NM_001110556.2(FLNA):c.6498C>G (p.Ile2166Met)
|
|
|
NM_001110556.2(FLNA):c.6585C>G (p.Asn2195Lys)
|
|
|
NM_001110556.2(FLNA):c.7136A>C (p.Tyr2379Ser)
|
|
|
NM_001110556.2(FLNA):c.7252A>T (p.Ile2418Phe)
|
|
|
NM_001110556.2(FLNA):c.7255C>G (p.Arg2419Gly)
|
rs782308324
|
|
NM_001110556.2(FLNA):c.7442A>G (p.Glu2481Gly)
|
|
|
NM_001110556.2(FLNA):c.7622C>T (p.Ala2541Val)
|
|
|
NM_001110556.2(FLNA):c.7627T>C (p.Cys2543Arg)
|
rs782496288
|
|
NM_001110556.2(FLNA):c.76G>A (p.Ala26Thr)
|
rs886038966
|
|
NM_001110556.2(FLNA):c.7753G>A (p.Ala2585Thr)
|
rs1557175261
|
|
NM_001110556.2(FLNA):c.7776G>A (p.Val2592=)
|
|
|
NM_001110556.2(FLNA):c.79G>A (p.Glu27Lys)
|
|
|
NM_001110556.2(FLNA):c.827G>A (p.Arg276Gln)
|
|
|
NM_001110556.2(FLNA):c.830C>T (p.Pro277Leu)
|
rs1557179540
|
|
NM_001110556.2(FLNA):c.873C>G (p.Ile291Met)
|
rs782140428
|
|
NM_001110556.2(FLNA):c.900G>T (p.Lys300Asn)
|
|
|
NM_001141945.3(ACTA2):c.-23-3869A>G
|
rs886047455
|
|
NM_001141945.3(ACTA2):c.-24+236C>T
|
rs886047457
|
|
NM_001141945.3(ACTA2):c.-24+399C>T
|
rs886047456
|
|
NM_001407129.1(TGFBR2):c.-33_-12+36del
|
rs2125438034
|
|
NM_001407129.1(TGFBR2):c.-36_-12+268del
|
|
|
NM_001613.4(ACTA2):c.*122T>C
|
rs886047451
|
|
NM_001613.4(ACTA2):c.*5C>T
|
rs2133237611
|
|
NM_001613.4(ACTA2):c.*6_*38del
|
rs1845709130
|
|
NM_001613.4(ACTA2):c.1007A>G (p.Glu336Gly)
|
rs772067065
|
|
NM_001613.4(ACTA2):c.1009C>T (p.Arg337Cys)
|
rs1845713745
|
|
NM_001613.4(ACTA2):c.1010G>A (p.Arg337His)
|
|
|
NM_001613.4(ACTA2):c.1013A>G (p.Lys338Arg)
|
rs920243723
|
|
NM_001613.4(ACTA2):c.1019_1020del (p.Ser340fs)
|
rs794728034
|
|
NM_001613.4(ACTA2):c.1051_1052del (p.Leu351fs)
|
rs1845712598
|
|
NM_001613.4(ACTA2):c.1058C>A (p.Thr353Asn)
|
|
|
NM_001613.4(ACTA2):c.106A>G (p.Ile36Val)
|
rs1845999767
|
|
NM_001613.4(ACTA2):c.1100C>T (p.Ala367Val)
|
rs1589388776
|
|
NM_001613.4(ACTA2):c.1132T>C (p.Ter378Gln)
|
rs878854465
|
|
NM_001613.4(ACTA2):c.13G>A (p.Glu5Lys)
|
|
|
NM_001613.4(ACTA2):c.142G>T (p.Gly48Ter)
|
rs869025351
|
|
NM_001613.4(ACTA2):c.143G>A (p.Gly48Glu)
|
|
|
NM_001613.4(ACTA2):c.143G>T (p.Gly48Val)
|
|
|
NM_001613.4(ACTA2):c.146T>A (p.Met49Lys)
|
rs869025352
|
|
NM_001613.4(ACTA2):c.14A>C (p.Glu5Ala)
|
rs1846001785
|
|
NM_001613.4(ACTA2):c.152A>C (p.Gln51Pro)
|
|
|
NM_001613.4(ACTA2):c.166G>A (p.Val56Met)
|
|
|
NM_001613.4(ACTA2):c.179C>G (p.Ala60Gly)
|
|
|
NM_001613.4(ACTA2):c.206T>A (p.Leu69Gln)
|
|
|
NM_001613.4(ACTA2):c.210G>C (p.Lys70Asn)
|
|
|
NM_001613.4(ACTA2):c.212A>G (p.Tyr71Cys)
|
|
|
NM_001613.4(ACTA2):c.215C>T (p.Pro72Leu)
|
rs1060500134
|
|
NM_001613.4(ACTA2):c.223C>A (p.His75Asn)
|
rs2133269905
|
|
NM_001613.4(ACTA2):c.229A>G (p.Ile77Val)
|
rs754716869
|
|
NM_001613.4(ACTA2):c.246C>G (p.Asp82Glu)
|
rs1254836237
|
|
NM_001613.4(ACTA2):c.256A>G (p.Lys86Glu)
|
rs1845968514
|
|
NM_001613.4(ACTA2):c.257A>G (p.Lys86Arg)
|
rs1554841831
|
|
NM_001613.4(ACTA2):c.259-1G>A
|
rs1210919054
|
|
NM_001613.4(ACTA2):c.259-1G>C
|
|
|
NM_001613.4(ACTA2):c.283G>A (p.Glu95Lys)
|
rs1064796442
|
|
NM_001613.4(ACTA2):c.350A>G (p.Asn117Ser)
|
rs2133261250
|
|
NM_001613.4(ACTA2):c.374T>A (p.Met125Lys)
|
rs2133256518
|
|
NM_001613.4(ACTA2):c.419C>T (p.Ala140Val)
|
rs397516683
|
|
NM_001613.4(ACTA2):c.454+1G>T
|
|
|
NM_001613.4(ACTA2):c.455-9G>T
|
rs1845849136
|
|
NM_001613.4(ACTA2):c.482T>A (p.Val161Asp)
|
rs1589394154
|
|
NM_001613.4(ACTA2):c.482T>C (p.Val161Ala)
|
rs1589394154
|
|
NM_001613.4(ACTA2):c.4T>A (p.Cys2Ser)
|
rs1846002030
|
|
NM_001613.4(ACTA2):c.505G>A (p.Glu169Lys)
|
|
|
NM_001613.4(ACTA2):c.520C>T (p.Pro174Ser)
|
|
|
NM_001613.4(ACTA2):c.533T>C (p.Met178Thr)
|
|
|
NM_001613.4(ACTA2):c.553C>G (p.Arg185Gly)
|
rs772473154
|
|
NM_001613.4(ACTA2):c.574A>G (p.Met192Val)
|
rs761222556
|
|
NM_001613.4(ACTA2):c.578A>G (p.Lys193Arg)
|
rs1845843832
|
|
NM_001613.4(ACTA2):c.586del (p.Thr196fs)
|
rs1845843384
|
|
NM_001613.4(ACTA2):c.591G>T (p.Glu197Asp)
|
rs886038487
|
|
NM_001613.4(ACTA2):c.60G>C (p.Lys20Asn)
|
|
|
NM_001613.4(ACTA2):c.616+2T>G
|
|
|
NM_001613.4(ACTA2):c.616+5G>C
|
rs1845842113
|
|
NM_001613.4(ACTA2):c.61G>T (p.Ala21Ser)
|
|
|
NM_001613.4(ACTA2):c.622C>T (p.Arg208Cys)
|
rs1057523339
|
|
NM_001613.4(ACTA2):c.641T>C (p.Ile214Thr)
|
rs1845812659
|
|
NM_001613.4(ACTA2):c.64G>A (p.Gly22Ser)
|
rs756496192
|
|
NM_001613.4(ACTA2):c.653T>G (p.Leu218Arg)
|
|
|
NM_001613.4(ACTA2):c.677A>C (p.Glu226Ala)
|
|
|
NM_001613.4(ACTA2):c.688G>A (p.Ala230Thr)
|
|
|
NM_001613.4(ACTA2):c.691A>G (p.Thr231Ala)
|
rs1845811593
|
|
NM_001613.4(ACTA2):c.698C>T (p.Ala233Val)
|
rs1845811306
|
|
NM_001613.4(ACTA2):c.720G>C (p.Lys240Asn)
|
rs727502878
|
|
NM_001613.4(ACTA2):c.739G>A (p.Gly247Arg)
|
rs1845810587
|
|
NM_001613.4(ACTA2):c.758G>A (p.Gly253Glu)
|
rs1845810106
|
|
NM_001613.4(ACTA2):c.763G>A (p.Glu255Lys)
|
rs794728027
|
|
NM_001613.4(ACTA2):c.76G>C (p.Asp26His)
|
rs1438979811
|
|
NM_001613.4(ACTA2):c.78C>A (p.Asp26Glu)
|
rs141538225
|
|
NM_001613.4(ACTA2):c.79G>A (p.Asp27Asn)
|
rs794728020
|
|
NM_001613.4(ACTA2):c.808G>A (p.Gly270Arg)
|
rs794728028
|
|
NM_001613.4(ACTA2):c.809-15G>C
|
rs1452950850
|
|
NM_001613.4(ACTA2):c.809G>A (p.Gly270Glu)
|
rs794728029
|
|
NM_001613.4(ACTA2):c.809G>T (p.Gly270Val)
|
|
|
NM_001613.4(ACTA2):c.811A>T (p.Met271Leu)
|
rs2133246684
|
|
NM_001613.4(ACTA2):c.815A>G (p.Glu272Gly)
|
rs1554840992
|
|
NM_001613.4(ACTA2):c.83C>T (p.Ala28Val)
|
rs886038855
|
|
NM_001613.4(ACTA2):c.843del (p.Thr280_Tyr281insTer)
|
rs1845781271
|
|
NM_001613.4(ACTA2):c.873C>G (p.Ile291Met)
|
rs1233218233
|
|
NM_001613.4(ACTA2):c.883C>G (p.Leu295Val)
|
|
|
NM_001613.4(ACTA2):c.906del (p.Gly304fs)
|
rs1564642714
|
|
NM_001613.4(ACTA2):c.911G>A (p.Gly304Asp)
|
rs1845779514
|
|
NM_001613.4(ACTA2):c.92C>T (p.Ala31Val)
|
|
|
NM_001613.4(ACTA2):c.947A>T (p.Gln316Leu)
|
rs1845778165
|
|
NM_001613.4(ACTA2):c.991-4A>C
|
rs761599964
|
|
NM_001999.4(FBN2):c.1069C>T (p.Arg357Ter)
|
rs1752991946
|
|
NM_001999.4(FBN2):c.107A>G (p.Lys36Arg)
|
|
|
NM_001999.4(FBN2):c.1126G>T (p.Ala376Ser)
|
rs746951402
|
|
NM_001999.4(FBN2):c.116G>C (p.Arg39Pro)
|
|
|
NM_001999.4(FBN2):c.1189G>A (p.Gly397Ser)
|
|
|
NM_001999.4(FBN2):c.1210G>T (p.Ala404Ser)
|
|
|
NM_001999.4(FBN2):c.1231+4C>T
|
|
|
NM_001999.4(FBN2):c.1257T>A (p.Asp419Glu)
|
|
|
NM_001999.4(FBN2):c.1267A>G (p.Met423Val)
|
|
|
NM_001999.4(FBN2):c.1347T>G (p.Asn449Lys)
|
|
|
NM_001999.4(FBN2):c.1351_1356del (p.Tyr451_Gly452del)
|
rs730880109
|
|
NM_001999.4(FBN2):c.1411G>T (p.Val471Phe)
|
|
|
NM_001999.4(FBN2):c.1724A>C (p.Asp575Ala)
|
|
|
NM_001999.4(FBN2):c.1739T>C (p.Ile580Thr)
|
|
|
NM_001999.4(FBN2):c.1769G>A (p.Arg590Gln)
|
|
|
NM_001999.4(FBN2):c.1780A>G (p.Thr594Ala)
|
rs1554064868
|
|
NM_001999.4(FBN2):c.1781C>T (p.Thr594Ile)
|
|
|
NM_001999.4(FBN2):c.1804del (p.Cys602fs)
|
rs886038824
|
|
NM_001999.4(FBN2):c.1844G>T (p.Cys615Phe)
|
rs1060503507
|
|
NM_001999.4(FBN2):c.1901A>G (p.Asn634Ser)
|
rs748715881
|
|
NM_001999.4(FBN2):c.1996G>A (p.Gly666Arg)
|
|
|
NM_001999.4(FBN2):c.2065_2066delinsAA (p.Ala689Asn)
|
rs869025430
|
|
NM_001999.4(FBN2):c.2095+2_2095+7del
|
rs1752033073
|
|
NM_001999.4(FBN2):c.2150G>A (p.Arg717His)
|
|
|
NM_001999.4(FBN2):c.2161G>C (p.Gly721Arg)
|
rs149733159
|
|
NM_001999.4(FBN2):c.2257C>T (p.His753Tyr)
|
|
|
NM_001999.4(FBN2):c.2329G>A (p.Asp777Asn)
|
|
|
NM_001999.4(FBN2):c.2342A>G (p.Asn781Ser)
|
|
|
NM_001999.4(FBN2):c.2365G>A (p.Gly789Ser)
|
rs886038969
|
|
NM_001999.4(FBN2):c.2406T>G (p.Asp802Glu)
|
rs568169177
|
|
NM_001999.4(FBN2):c.2478C>G (p.Cys826Trp)
|
rs1554125090
|
|
NM_001999.4(FBN2):c.248T>C (p.Leu83Pro)
|
|
|
NM_001999.4(FBN2):c.2539A>G (p.Thr847Ala)
|
rs878854474
|
|
NM_001999.4(FBN2):c.2606A>C (p.Asn869Thr)
|
|
|
NM_001999.4(FBN2):c.2698C>G (p.Leu900Val)
|
rs1057524854
|
|
NM_001999.4(FBN2):c.2698C>T (p.Leu900Phe)
|
rs1057524854
|
|
NM_001999.4(FBN2):c.281A>G (p.His94Arg)
|
|
|
NM_001999.4(FBN2):c.2836G>T (p.Ala946Ser)
|
rs886038950
|
|
NM_001999.4(FBN2):c.287_289del (p.Tyr96del)
|
rs555068280
|
|
NM_001999.4(FBN2):c.2996G>A (p.Arg999His)
|
rs1342942240
|
|
NM_001999.4(FBN2):c.3039C>G (p.Ile1013Met)
|
rs1388119592
|
|
NM_001999.4(FBN2):c.3057G>C (p.Lys1019Asn)
|
rs863223561
|
|
NM_001999.4(FBN2):c.3058T>C (p.Phe1020Leu)
|
rs984782865
|
|
NM_001999.4(FBN2):c.3160C>T (p.Arg1054Cys)
|
rs869025427
|
|
NM_001999.4(FBN2):c.3241C>G (p.Pro1081Ala)
|
rs863223601
|
|
NM_001999.4(FBN2):c.3290A>G (p.Lys1097Arg)
|
|
|
NM_001999.4(FBN2):c.3361A>G (p.Ile1121Val)
|
|
|
NM_001999.4(FBN2):c.3490C>T (p.Arg1164Cys)
|
rs886039059
|
|
NM_001999.4(FBN2):c.3593G>A (p.Cys1198Tyr)
|
rs863223567
|
|
NM_001999.4(FBN2):c.3643A>G (p.Lys1215Glu)
|
|
|
NM_001999.4(FBN2):c.3728T>C (p.Ile1243Thr)
|
rs1306804578
|
|
NM_001999.4(FBN2):c.3812G>C (p.Gly1271Ala)
|
|
|
NM_001999.4(FBN2):c.4042T>C (p.Phe1348Leu)
|
|
|
NM_001999.4(FBN2):c.4053C>G (p.His1351Gln)
|
|
|
NM_001999.4(FBN2):c.4140G>C (p.Met1380Ile)
|
|
|
NM_001999.4(FBN2):c.4180A>C (p.Ser1394Arg)
|
|
|
NM_001999.4(FBN2):c.4201G>A (p.Gly1401Arg)
|
rs1554122552
|
|
NM_001999.4(FBN2):c.4235G>A (p.Cys1412Tyr)
|
|
|
NM_001999.4(FBN2):c.425G>C (p.Gly142Ala)
|
rs1060503506
|
|
NM_001999.4(FBN2):c.4267G>T (p.Ala1423Ser)
|
|
|
NM_001999.4(FBN2):c.4316G>A (p.Gly1439Asp)
|
rs886039151
|
|
NM_001999.4(FBN2):c.436+4T>G
|
|
|
NM_001999.4(FBN2):c.4552G>A (p.Asp1518Asn)
|
|
|
NM_001999.4(FBN2):c.4559G>T (p.Gly1520Val)
|
rs886038767
|
|
NM_001999.4(FBN2):c.4672T>A (p.Cys1558Ser)
|
|
|
NM_001999.4(FBN2):c.4709G>T (p.Gly1570Val)
|
|
|
NM_001999.4(FBN2):c.4748T>C (p.Phe1583Ser)
|
|
|
NM_001999.4(FBN2):c.4877G>T (p.Ser1626Ile)
|
rs1403929477
|
|
NM_001999.4(FBN2):c.4884A>C (p.Glu1628Asp)
|
|
|
NM_001999.4(FBN2):c.4959A>C (p.Glu1653Asp)
|
rs1554120359
|
|
NM_001999.4(FBN2):c.4978C>A (p.Leu1660Ile)
|
|
|
NM_001999.4(FBN2):c.5003A>G (p.Asn1668Ser)
|
|
|
NM_001999.4(FBN2):c.5037A>C (p.Gln1679His)
|
rs1554120349
|
|
NM_001999.4(FBN2):c.5062C>T (p.Arg1688Cys)
|
|
|
NM_001999.4(FBN2):c.5176G>A (p.Val1726Ile)
|
|
|
NM_001999.4(FBN2):c.518C>T (p.Thr173Ile)
|
rs147157552
|
|
NM_001999.4(FBN2):c.5552T>C (p.Ile1851Thr)
|
|
|
NM_001999.4(FBN2):c.5568T>A (p.Asn1856Lys)
|
rs1201284691
|
|
NM_001999.4(FBN2):c.5779C>A (p.Gln1927Lys)
|
|
|
NM_001999.4(FBN2):c.6046+4_6046+7del
|
|
|
NM_001999.4(FBN2):c.6145G>C (p.Val2049Leu)
|
|
|
NM_001999.4(FBN2):c.6165T>G (p.Ile2055Met)
|
|
|
NM_001999.4(FBN2):c.6185A>G (p.Glu2062Gly)
|
|
|
NM_001999.4(FBN2):c.6280C>T (p.Arg2094Trp)
|
rs1262453464
|
|
NM_001999.4(FBN2):c.6346C>T (p.Pro2116Ser)
|
|
|
NM_001999.4(FBN2):c.6512-2A>G
|
rs863223580
|
|
NM_001999.4(FBN2):c.6623G>A (p.Gly2208Glu)
|
rs200489152
|
|
NM_001999.4(FBN2):c.6764A>G (p.Asn2255Ser)
|
rs886039147
|
|
NM_001999.4(FBN2):c.6898G>A (p.Glu2300Lys)
|
rs1419124277
|
|
NM_001999.4(FBN2):c.7013-7_7013-5delinsCC
|
|
|
NM_001999.4(FBN2):c.7030A>T (p.Thr2344Ser)
|
|
|
NM_001999.4(FBN2):c.7055G>C (p.Gly2352Ala)
|
rs764330020
|
|
NM_001999.4(FBN2):c.7085G>C (p.Arg2362Thr)
|
rs771718967
|
|
NM_001999.4(FBN2):c.7112C>G (p.Ser2371Ter)
|
rs1461140915
|
|
NM_001999.4(FBN2):c.7153C>A (p.Leu2385Ile)
|
|
|
NM_001999.4(FBN2):c.7195T>A (p.Ser2399Thr)
|
rs1554117123
|
|
NM_001999.4(FBN2):c.7201A>C (p.Ser2401Arg)
|
rs777558947
|
|
NM_001999.4(FBN2):c.7250G>T (p.Gly2417Val)
|
rs886038938
|
|
NM_001999.4(FBN2):c.7260C>G (p.His2420Gln)
|
rs775251012
|
|
NM_001999.4(FBN2):c.7418G>A (p.Arg2473Gln)
|
rs28763925
|
|
NM_001999.4(FBN2):c.761G>C (p.Cys254Ser)
|
rs755760127
|
|
NM_001999.4(FBN2):c.7672T>G (p.Cys2558Gly)
|
rs863223589
|
|
NM_001999.4(FBN2):c.7796G>A (p.Cys2599Tyr)
|
rs1554116599
|
|
NM_001999.4(FBN2):c.7841-3C>T
|
rs1554116417
|
|
NM_001999.4(FBN2):c.7859_7860delinsAA (p.Gly2620Glu)
|
rs1554116412
|
|
NM_001999.4(FBN2):c.7901G>A (p.Gly2634Asp)
|
rs756511141
|
|
NM_001999.4(FBN2):c.7913G>A (p.Gly2638Asp)
|
|
|
NM_001999.4(FBN2):c.8061C>G (p.Asp2687Glu)
|
rs749888746
|
|
NM_001999.4(FBN2):c.809G>A (p.Arg270His)
|
rs148971572
|
|
NM_001999.4(FBN2):c.8119A>C (p.Asn2707His)
|
rs886039073
|
|
NM_001999.4(FBN2):c.8143G>C (p.Gly2715Arg)
|
rs772569905
|
|
NM_001999.4(FBN2):c.8167C>G (p.Pro2723Ala)
|
|
|
NM_001999.4(FBN2):c.8193-4A>G
|
rs200964477
|
|
NM_001999.4(FBN2):c.8279A>C (p.Glu2760Ala)
|
rs56023452
|
|
NM_001999.4(FBN2):c.827A>T (p.Asp276Val)
|
|
|
NM_001999.4(FBN2):c.8376C>T (p.Ile2792=)
|
rs142747169
|
|
NM_001999.4(FBN2):c.8395A>G (p.Met2799Val)
|
|
|
NM_001999.4(FBN2):c.8396T>C (p.Met2799Thr)
|
|
|
NM_001999.4(FBN2):c.8470G>T (p.Ala2824Ser)
|
rs868262960
|
|
NM_001999.4(FBN2):c.847A>G (p.Ile283Val)
|
|
|
NM_001999.4(FBN2):c.848T>C (p.Ile283Thr)
|
|
|
NM_001999.4(FBN2):c.8545C>G (p.Gln2849Glu)
|
|
|
NM_001999.4(FBN2):c.8681A>G (p.Tyr2894Cys)
|
rs779659640
|
|
NM_001999.4(FBN2):c.924A>T (p.Lys308Asn)
|
|
|
NM_002317.7(LOX):c.292C>A (p.Arg98Ser)
|
|
|
NM_002474.3(MYH11):c.-12C>A
|
rs763118586
|
|
NM_002474.3(MYH11):c.-14A>T
|
rs1555459265
|
|
NM_002474.3(MYH11):c.-6G>A
|
rs2151381651
|
|
NM_002474.3(MYH11):c.1030C>A (p.Leu344Ile)
|
rs2042101661
|
|
NM_002474.3(MYH11):c.1034-15C>G
|
rs2041924862
|
|
NM_002474.3(MYH11):c.1038A>G (p.Ile346Met)
|
rs2041924270
|
|
NM_002474.3(MYH11):c.1040T>G (p.Leu347Trp)
|
|
|
NM_002474.3(MYH11):c.1045G>A (p.Val349Met)
|
rs1414623292
|
|
NM_002474.3(MYH11):c.1057G>T (p.Val353Phe)
|
|
|
NM_002474.3(MYH11):c.1065G>T (p.Gln355His)
|
|
|
NM_002474.3(MYH11):c.1069_1082del (p.Gly357fs)
|
rs1235801428
|
|
NM_002474.3(MYH11):c.106G>A (p.Val36Ile)
|
rs959014769
|
|
NM_002474.3(MYH11):c.1084A>G (p.Lys362Glu)
|
rs770277568
|
|
NM_002474.3(MYH11):c.1099A>G (p.Thr367Ala)
|
|
|
NM_002474.3(MYH11):c.1109C>T (p.Ala370Val)
|
|
|
NM_002474.3(MYH11):c.1114A>G (p.Met372Val)
|
rs2041921713
|
|
NM_002474.3(MYH11):c.1128A>C (p.Thr376=)
|
rs2041921276
|
|
NM_002474.3(MYH11):c.1132G>T (p.Ala378Ser)
|
rs943768534
|
|
NM_002474.3(MYH11):c.1147C>T (p.His383Tyr)
|
rs2041847191
|
|
NM_002474.3(MYH11):c.115C>A (p.Pro39Thr)
|
rs761131497
|
|
NM_002474.3(MYH11):c.115C>G (p.Pro39Ala)
|
|
|
NM_002474.3(MYH11):c.1198C>T (p.Arg400Cys)
|
rs1179634554
|
|
NM_002474.3(MYH11):c.1199G>A (p.Arg400His)
|
rs767036635
|
|
NM_002474.3(MYH11):c.1202T>C (p.Ile401Thr)
|
rs773998062
|
|
NM_002474.3(MYH11):c.1207G>T (p.Val403Phe)
|
rs748924540
|
|
NM_002474.3(MYH11):c.121G>A (p.Glu41Lys)
|
|
|
NM_002474.3(MYH11):c.1220T>C (p.Val407Ala)
|
rs886038993
|
|
NM_002474.3(MYH11):c.1221_1223delinsTGG (p.Val408Gly)
|
rs2151278572
|
|
NM_002474.3(MYH11):c.1222G>T (p.Val408Leu)
|
rs2041845331
|
|
NM_002474.3(MYH11):c.1226A>C (p.Gln409Pro)
|
|
|
NM_002474.3(MYH11):c.1249-11delinsCCCCTGGTTC
|
rs2151277364
|
|
NM_002474.3(MYH11):c.1249-15G>T
|
rs886051765
|
|
NM_002474.3(MYH11):c.1262T>G (p.Val421Gly)
|
rs777822332
|
|
NM_002474.3(MYH11):c.1285T>C (p.Tyr429His)
|
rs1567736079
|
|
NM_002474.3(MYH11):c.1315C>T (p.Arg439Cys)
|
rs1567736003
|
|
NM_002474.3(MYH11):c.1318G>A (p.Val440Met)
|
rs886038900
|
|
NM_002474.3(MYH11):c.1323C>A (p.Asn441Lys)
|
rs1159394998
|
|
NM_002474.3(MYH11):c.1342del (p.His448fs)
|
rs2151277173
|
|
NM_002474.3(MYH11):c.1345C>T (p.Arg449Trp)
|
|
|
NM_002474.3(MYH11):c.1346G>A (p.Arg449Gln)
|
rs775520228
|
|
NM_002474.3(MYH11):c.1354G>A (p.Ala452Thr)
|
rs749264459
|
|
NM_002474.3(MYH11):c.139G>T (p.Ala47Ser)
|
|
|
NM_002474.3(MYH11):c.1402-5C>G
|
rs372223335
|
|
NM_002474.3(MYH11):c.1402-8G>C
|
rs529694413
|
|
NM_002474.3(MYH11):c.1414G>C (p.Glu472Gln)
|
|
|
NM_002474.3(MYH11):c.142G>T (p.Ala48Ser)
|
rs2151381454
|
|
NM_002474.3(MYH11):c.1468_1470delinsT (p.Thr490fs)
|
|
|
NM_002474.3(MYH11):c.1493_1494del (p.Glu498fs)
|
|
|
NM_002474.3(MYH11):c.151A>G (p.Lys51Glu)
|
rs2043951986
|
|
NM_002474.3(MYH11):c.1525A>G (p.Ile509Val)
|
rs1239094357
|
|
NM_002474.3(MYH11):c.1528G>A (p.Asp510Asn)
|
rs112553563
|
|
NM_002474.3(MYH11):c.154G>C (p.Glu52Gln)
|
|
|
NM_002474.3(MYH11):c.1553G>A (p.Cys518Tyr)
|
rs1308058516
|
|
NM_002474.3(MYH11):c.1559A>C (p.Glu520Ala)
|
rs2041770602
|
|
NM_002474.3(MYH11):c.155A>G (p.Glu52Gly)
|
rs1567211756
|
|
NM_002474.3(MYH11):c.1570C>T (p.Arg524Ter)
|
rs2151274829
|
|
NM_002474.3(MYH11):c.1575+4A>G
|
rs2041769763
|
|
NM_002474.3(MYH11):c.1575G>A (p.Pro525=)
|
|
|
NM_002474.3(MYH11):c.1613A>G (p.Glu538Gly)
|
rs1421397442
|
|
NM_002474.3(MYH11):c.1628A>G (p.Lys543Arg)
|
rs2151272970
|
|
NM_002474.3(MYH11):c.1664C>T (p.Thr555Met)
|
rs2041718828
|
|
NM_002474.3(MYH11):c.1671G>C (p.Gln557His)
|
|
|
NM_002474.3(MYH11):c.167del (p.Asp56fs)
|
rs2151381426
|
|
NM_002474.3(MYH11):c.168T>G (p.Asp56Glu)
|
|
|
NM_002474.3(MYH11):c.1701G>C (p.Lys567Asn)
|
rs1415327075
|
|
NM_002474.3(MYH11):c.1714A>G (p.Lys572Glu)
|
|
|
NM_002474.3(MYH11):c.1750G>A (p.Val584Met)
|
|
|
NM_002474.3(MYH11):c.1763C>T (p.Ala588Val)
|
rs794728667
|
|
NM_002474.3(MYH11):c.1775T>G (p.Leu592Arg)
|
rs2151269020
|
|
NM_002474.3(MYH11):c.1793C>T (p.Pro598Leu)
|
|
|
NM_002474.3(MYH11):c.181G>C (p.Glu61Gln)
|
rs2043950817
|
|
NM_002474.3(MYH11):c.1822A>G (p.Asn608Asp)
|
rs758759408
|
|
NM_002474.3(MYH11):c.1864+6G>A
|
rs1567729627
|
|
NM_002474.3(MYH11):c.1864G>A (p.Val622Met)
|
|
|
NM_002474.3(MYH11):c.1868A>G (p.Asp623Gly)
|
rs751232816
|
|
NM_002474.3(MYH11):c.188T>C (p.Val63Ala)
|
rs2043950389
|
|
NM_002474.3(MYH11):c.1897A>C (p.Lys633Gln)
|
rs772309087
|
|
NM_002474.3(MYH11):c.1898A>G (p.Lys633Arg)
|
|
|
NM_002474.3(MYH11):c.1908G>C (p.Glu636Asp)
|
rs1312174913
|
|
NM_002474.3(MYH11):c.190G>C (p.Glu64Gln)
|
rs886038997
|
|
NM_002474.3(MYH11):c.1922G>A (p.Ser641Asn)
|
rs2041531591
|
|
NM_002474.3(MYH11):c.1924G>C (p.Ala642Pro)
|
rs371750065
|
|
NM_002474.3(MYH11):c.1952G>A (p.Arg651His)
|
|
|
NM_002474.3(MYH11):c.1965G>T (p.Gln655His)
|
rs2041530068
|
|
NM_002474.3(MYH11):c.2006G>A (p.Arg669His)
|
|
|
NM_002474.3(MYH11):c.202A>G (p.Lys68Glu)
|
rs201872782
|
|
NM_002474.3(MYH11):c.2030G>A (p.Arg677His)
|
rs1478913138
|
|
NM_002474.3(MYH11):c.2041C>T (p.Pro681Ser)
|
rs886051763
|
|
NM_002474.3(MYH11):c.204G>C (p.Lys68Asn)
|
rs111777997
|
|
NM_002474.3(MYH11):c.2059-1G>A
|
|
|
NM_002474.3(MYH11):c.2062G>C (p.Gly688Arg)
|
|
|
NM_002474.3(MYH11):c.2063G>A (p.Gly688Asp)
|
|
|
NM_002474.3(MYH11):c.2063G>C (p.Gly688Ala)
|
|
|
NM_002474.3(MYH11):c.2147C>A (p.Pro716His)
|
rs1596774009
|
|
NM_002474.3(MYH11):c.2153G>A (p.Arg718Gln)
|
rs1286713310
|
|
NM_002474.3(MYH11):c.2174G>A (p.Arg725His)
|
|
|
NM_002474.3(MYH11):c.2180+2T>C
|
rs2041467979
|
|
NM_002474.3(MYH11):c.2195C>A (p.Ala732Glu)
|
rs764831521
|
|
NM_002474.3(MYH11):c.2197G>A (p.Ala733Thr)
|
rs1393414333
|
|
NM_002474.3(MYH11):c.2213A>C (p.Lys738Thr)
|
rs1555560379
|
|
NM_002474.3(MYH11):c.2216G>C (p.Gly739Ala)
|
rs771806682
|
|
NM_002474.3(MYH11):c.2216G>T (p.Gly739Val)
|
rs771806682
|
|
NM_002474.3(MYH11):c.2226C>A (p.Asp742Glu)
|
|
|
NM_002474.3(MYH11):c.2227G>A (p.Gly743Arg)
|
|
|
NM_002474.3(MYH11):c.2251A>C (p.Ile751Leu)
|
|
|
NM_002474.3(MYH11):c.2254A>G (p.Lys752Glu)
|
rs2041457179
|
|
NM_002474.3(MYH11):c.2263G>C (p.Glu755Gln)
|
|
|
NM_002474.3(MYH11):c.2266C>T (p.Leu756Phe)
|
|
|
NM_002474.3(MYH11):c.2279T>C (p.Leu760Ser)
|
rs2041456567
|
|
NM_002474.3(MYH11):c.2281T>C (p.Tyr761His)
|
rs935729628
|
|
NM_002474.3(MYH11):c.2289A>G (p.Ile763Met)
|
rs912543441
|
|
NM_002474.3(MYH11):c.229C>T (p.Gln77Ter)
|
rs1567211625
|
|
NM_002474.3(MYH11):c.22del (p.Ser8fs)
|
rs2043958603
|
|
NM_002474.3(MYH11):c.2320G>A (p.Val774Ile)
|
rs147897132
|
|
NM_002474.3(MYH11):c.2339A>C (p.Glu780Ala)
|
rs2041454597
|
|
NM_002474.3(MYH11):c.2344C>T (p.Arg782Ter)
|
rs777173010
|
|
NM_002474.3(MYH11):c.2349T>G (p.Asp783Glu)
|
|
|
NM_002474.3(MYH11):c.2356A>G (p.Ile786Val)
|
rs2041454061
|
|
NM_002474.3(MYH11):c.235A>C (p.Met79Leu)
|
rs2151381331
|
|
NM_002474.3(MYH11):c.2362G>A (p.Asp788Asn)
|
rs768858261
|
|
NM_002474.3(MYH11):c.2365G>A (p.Val789Ile)
|
|
|
NM_002474.3(MYH11):c.2368A>G (p.Ile790Val)
|
rs2041453442
|
|
NM_002474.3(MYH11):c.2383G>A (p.Ala795Thr)
|
rs2041453117
|
|
NM_002474.3(MYH11):c.2398T>C (p.Tyr800His)
|
rs1567723860
|
|
NM_002474.3(MYH11):c.2408G>A (p.Arg803Lys)
|
rs749801876
|
|
NM_002474.3(MYH11):c.2412-10C>G
|
rs2041385623
|
|
NM_002474.3(MYH11):c.2412-15T>G
|
rs373833673
|
|
NM_002474.3(MYH11):c.2412-8C>A
|
rs200606975
|
|
NM_002474.3(MYH11):c.2412-8del
|
|
|
NM_002474.3(MYH11):c.2425A>G (p.Arg809Gly)
|
|
|
NM_002474.3(MYH11):c.2428C>G (p.Gln810Glu)
|
|
|
NM_002474.3(MYH11):c.2429A>G (p.Gln810Arg)
|
|
|
NM_002474.3(MYH11):c.244C>A (p.Pro82Thr)
|
rs1431217461
|
|
NM_002474.3(MYH11):c.244C>T (p.Pro82Ser)
|
|
|
NM_002474.3(MYH11):c.2462G>A (p.Arg821Lys)
|
rs2151256712
|
|
NM_002474.3(MYH11):c.2470G>A (p.Ala824Thr)
|
|
|
NM_002474.3(MYH11):c.2516C>A (p.Thr839Asn)
|
rs1248564780
|
|
NM_002474.3(MYH11):c.2520+3G>A
|
rs750078792
|
|
NM_002474.3(MYH11):c.2545C>T (p.Arg849Trp)
|
rs869025471
|
|
NM_002474.3(MYH11):c.254C>T (p.Ser85Phe)
|
rs148687580
|
|
NM_002474.3(MYH11):c.2561T>G (p.Met854Arg)
|
rs2041283522
|
|
NM_002474.3(MYH11):c.2562G>A (p.Met854Ile)
|
rs886039165
|
|
NM_002474.3(MYH11):c.2566G>A (p.Ala856Thr)
|
|
|
NM_002474.3(MYH11):c.2572G>A (p.Glu858Lys)
|
rs1567718928
|
|
NM_002474.3(MYH11):c.2575G>A (p.Asp859Asn)
|
rs2041282747
|
|
NM_002474.3(MYH11):c.2587A>G (p.Lys863Glu)
|
rs2041282396
|
|
NM_002474.3(MYH11):c.259G>A (p.Val87Met)
|
|
|
NM_002474.3(MYH11):c.2609A>C (p.Lys870Thr)
|
rs867202175
|
|
NM_002474.3(MYH11):c.260T>C (p.Val87Ala)
|
|
|
NM_002474.3(MYH11):c.2620G>A (p.Glu874Lys)
|
rs2151251130
|
|
NM_002474.3(MYH11):c.2632C>A (p.Leu878Met)
|
rs2041280783
|
|
NM_002474.3(MYH11):c.2645A>G (p.His882Arg)
|
rs2151251073
|
|
NM_002474.3(MYH11):c.2653-6G>A
|
rs200637980
|
|
NM_002474.3(MYH11):c.2665A>C (p.Lys889Gln)
|
rs762308378
|
|
NM_002474.3(MYH11):c.2667_2668delinsCC (p.Lys889_Asn890delinsAsnHis)
|
|
|
NM_002474.3(MYH11):c.2669A>C (p.Asn890Thr)
|
rs2041275775
|
|
NM_002474.3(MYH11):c.2670C>T (p.Asn890=)
|
rs1596763358
|
|
NM_002474.3(MYH11):c.267C>A (p.Asp89Glu)
|
rs775840903
|
|
NM_002474.3(MYH11):c.2681A>G (p.Glu894Gly)
|
|
|
NM_002474.3(MYH11):c.2699C>T (p.Thr900Ile)
|
rs866907050
|
|
NM_002474.3(MYH11):c.2702A>G (p.Glu901Gly)
|
rs1481169784
|
|
NM_002474.3(MYH11):c.2728C>T (p.Arg910Trp)
|
rs2041274181
|
|
NM_002474.3(MYH11):c.272C>T (p.Ala91Val)
|
rs1555459204
|
|
NM_002474.3(MYH11):c.2741C>A (p.Ala914Glu)
|
|
|
NM_002474.3(MYH11):c.2741C>T (p.Ala914Val)
|
rs142128375
|
|
NM_002474.3(MYH11):c.2743G>T (p.Ala915Ser)
|
|
|
NM_002474.3(MYH11):c.2746A>G (p.Lys916Glu)
|
rs2041273210
|
|
NM_002474.3(MYH11):c.2747A>G (p.Lys916Arg)
|
rs1382626826
|
|
NM_002474.3(MYH11):c.2773C>G (p.His925Asp)
|
rs756452596
|
|
NM_002474.3(MYH11):c.2774A>G (p.His925Arg)
|
|
|
NM_002474.3(MYH11):c.2786C>A (p.Ala929Asp)
|
|
|
NM_002474.3(MYH11):c.2813G>C (p.Gly938Ala)
|
rs2041270792
|
|
NM_002474.3(MYH11):c.281C>G (p.Thr94Arg)
|
rs794728681
|
|
NM_002474.3(MYH11):c.2834G>T (p.Arg945Met)
|
|
|
NM_002474.3(MYH11):c.2846C>T (p.Ala949Val)
|
|
|
NM_002474.3(MYH11):c.2859+3A>G
|
rs2041269100
|
|
NM_002474.3(MYH11):c.2860-5C>T
|
rs1223452979
|
|
NM_002474.3(MYH11):c.2860-8C>A
|
rs1471253618
|
|
NM_002474.3(MYH11):c.28G>A (p.Asp10Asn)
|
|
|
NM_002474.3(MYH11):c.28G>T (p.Asp10Tyr)
|
rs2043958315
|
|
NM_002474.3(MYH11):c.2902A>G (p.Lys968Glu)
|
rs2151248150
|
|
NM_002474.3(MYH11):c.2917A>G (p.Lys973Glu)
|
|
|
NM_002474.3(MYH11):c.2919G>T (p.Lys973Asn)
|
rs2041231978
|
|
NM_002474.3(MYH11):c.291C>A (p.Asn97Lys)
|
rs113363750
|
|
NM_002474.3(MYH11):c.2940C>G (p.Ile980Met)
|
rs2041231212
|
|
NM_002474.3(MYH11):c.294A>C (p.Glu98Asp)
|
rs864309563
|
|
NM_002474.3(MYH11):c.2950G>C (p.Glu984Gln)
|
rs1163072851
|
|
NM_002474.3(MYH11):c.2953G>A (p.Asp985Asn)
|
|
|
NM_002474.3(MYH11):c.2970G>A (p.Met990Ile)
|
rs2041229911
|
|
NM_002474.3(MYH11):c.2981A>T (p.Asn994Ile)
|
rs1219173895
|
|
NM_002474.3(MYH11):c.2989C>G (p.Leu997Val)
|
rs2041228951
|
|
NM_002474.3(MYH11):c.3001C>T (p.Arg1001Ter)
|
rs1064795023
|
|
NM_002474.3(MYH11):c.3022A>T (p.Ile1008Phe)
|
rs1567715853
|
|
NM_002474.3(MYH11):c.3026G>C (p.Ser1009Thr)
|
|
|
NM_002474.3(MYH11):c.3032T>C (p.Leu1011Ser)
|
|
|
NM_002474.3(MYH11):c.3035C>A (p.Thr1012Lys)
|
rs373881911
|
|
NM_002474.3(MYH11):c.3040A>G (p.Asn1014Asp)
|
rs1347671761
|
|
NM_002474.3(MYH11):c.3041A>G (p.Asn1014Ser)
|
|
|
NM_002474.3(MYH11):c.3086A>G (p.Lys1029Arg)
|
rs2041188958
|
|
NM_002474.3(MYH11):c.3098A>C (p.Glu1033Ala)
|
rs2041188615
|
|
NM_002474.3(MYH11):c.3115C>A (p.Leu1039Met)
|
|
|
NM_002474.3(MYH11):c.3115C>G (p.Leu1039Val)
|
rs1223757069
|
|
NM_002474.3(MYH11):c.3122T>C (p.Val1041Ala)
|
rs2041159388
|
|
NM_002474.3(MYH11):c.3131A>C (p.Lys1044Thr)
|
rs2041158967
|
|
NM_002474.3(MYH11):c.3166C>G (p.Leu1056Val)
|
rs2041157922
|
|
NM_002474.3(MYH11):c.3195C>A (p.Ser1065Arg)
|
rs202136377
|
|
NM_002474.3(MYH11):c.3197A>G (p.Asp1066Gly)
|
rs2041156611
|
|
NM_002474.3(MYH11):c.3200T>G (p.Phe1067Cys)
|
|
|
NM_002474.3(MYH11):c.3202C>T (p.His1068Tyr)
|
|
|
NM_002474.3(MYH11):c.3208C>T (p.Gln1070Ter)
|
rs2041155830
|
|
NM_002474.3(MYH11):c.3223C>T (p.Gln1075Ter)
|
rs2041155319
|
|
NM_002474.3(MYH11):c.3226G>T (p.Ala1076Ser)
|
rs1229749917
|
|
NM_002474.3(MYH11):c.3232A>G (p.Ile1078Val)
|
|
|
NM_002474.3(MYH11):c.3235G>T (p.Ala1079Ser)
|
rs140479999
|
|
NM_002474.3(MYH11):c.3236C>T (p.Ala1079Val)
|
|
|
NM_002474.3(MYH11):c.3244_3270del (p.Lys1082_Glu1090del)
|
rs1555557191
|
|
NM_002474.3(MYH11):c.3256G>C (p.Ala1086Pro)
|
rs2151244086
|
|
NM_002474.3(MYH11):c.3274C>G (p.Leu1092Val)
|
rs945042608
|
|
NM_002474.3(MYH11):c.3280G>A (p.Ala1094Thr)
|
rs2041152851
|
|
NM_002474.3(MYH11):c.3295C>T (p.Leu1099Phe)
|
rs757497342
|
|
NM_002474.3(MYH11):c.3301G>A (p.Asp1101Asn)
|
rs764532365
|
|
NM_002474.3(MYH11):c.3304G>A (p.Glu1102Lys)
|
rs761288871
|
|
NM_002474.3(MYH11):c.3311C>T (p.Ala1104Val)
|
rs886051759
|
|
NM_002474.3(MYH11):c.3315GAA[1] (p.Lys1106del)
|
|
|
NM_002474.3(MYH11):c.3321C>G (p.Asn1107Lys)
|
|
|
NM_002474.3(MYH11):c.3322A>G (p.Asn1108Asp)
|
rs1451959711
|
|
NM_002474.3(MYH11):c.3341G>A (p.Arg1114Gln)
|
rs1349239463
|
|
NM_002474.3(MYH11):c.3349G>A (p.Glu1117Lys)
|
|
|
NM_002474.3(MYH11):c.3358A>G (p.Ile1120Val)
|
rs886038788
|
|
NM_002474.3(MYH11):c.3364G>C (p.Asp1122His)
|
rs2041091293
|
|
NM_002474.3(MYH11):c.3379C>G (p.Leu1127Val)
|
rs886038854
|
|
NM_002474.3(MYH11):c.3380T>C (p.Leu1127Pro)
|
rs2041090629
|
|
NM_002474.3(MYH11):c.3397G>T (p.Ala1133Ser)
|
rs148731225
|
|
NM_002474.3(MYH11):c.3402G>C (p.Arg1134Ser)
|
|
|
NM_002474.3(MYH11):c.3405C>A (p.Asn1135Lys)
|
rs760057221
|
|
NM_002474.3(MYH11):c.3425G>A (p.Arg1142Gln)
|
|
|
NM_002474.3(MYH11):c.3427G>T (p.Asp1143Tyr)
|
|
|
NM_002474.3(MYH11):c.3436G>A (p.Glu1146Lys)
|
rs965028796
|
|
NM_002474.3(MYH11):c.3441G>C (p.Glu1147Asp)
|
rs1567712736
|
|
NM_002474.3(MYH11):c.3443T>A (p.Leu1148Gln)
|
rs1060500726
|
|
NM_002474.3(MYH11):c.345+6T>C
|
rs2043942811
|
|
NM_002474.3(MYH11):c.3451C>A (p.Leu1151Ile)
|
|
|
NM_002474.3(MYH11):c.346-10_346-9del
|
rs2151359938
|
|
NM_002474.3(MYH11):c.346-12C>A
|
rs2043470235
|
|
NM_002474.3(MYH11):c.346-15del
|
rs2043470304
|
|
NM_002474.3(MYH11):c.3463C>G (p.Leu1155Val)
|
rs2151240818
|
|
NM_002474.3(MYH11):c.3475C>A (p.Leu1159Met)
|
|
|
NM_002474.3(MYH11):c.3485C>T (p.Thr1162Ile)
|
rs2041086846
|
|
NM_002474.3(MYH11):c.3494A>T (p.Gln1165Leu)
|
rs2151240746
|
|
NM_002474.3(MYH11):c.350A>T (p.Tyr117Phe)
|
rs2151359917
|
|
NM_002474.3(MYH11):c.3541A>G (p.Lys1181Glu)
|
|
|
NM_002474.3(MYH11):c.3541_3542delinsGC (p.Lys1181Ala)
|
rs1555555783
|
|
NM_002474.3(MYH11):c.3542A>C (p.Lys1181Thr)
|
|
|
NM_002474.3(MYH11):c.3552T>G (p.Asp1184Glu)
|
rs2041002895
|
|
NM_002474.3(MYH11):c.3557A>G (p.Glu1186Gly)
|
rs2151236097
|
|
NM_002474.3(MYH11):c.3566C>A (p.Ser1189Tyr)
|
rs773443243
|
|
NM_002474.3(MYH11):c.3568C>T (p.His1190Tyr)
|
rs371629304
|
|
NM_002474.3(MYH11):c.3570T>A (p.His1190Gln)
|
rs769951224
|
|
NM_002474.3(MYH11):c.3577C>G (p.Gln1193Glu)
|
|
|
NM_002474.3(MYH11):c.3580G>T (p.Val1194Phe)
|
|
|
NM_002474.3(MYH11):c.3586_3588del (p.Glu1196del)
|
|
|
NM_002474.3(MYH11):c.3593G>A (p.Arg1198Lys)
|
rs1057347498
|
|
NM_002474.3(MYH11):c.3605C>T (p.Ala1202Val)
|
|
|
NM_002474.3(MYH11):c.3625A>C (p.Thr1209Pro)
|
|
|
NM_002474.3(MYH11):c.3635T>G (p.Leu1212Arg)
|
|
|
NM_002474.3(MYH11):c.3650G>A (p.Arg1217Lys)
|
rs2040997545
|
|
NM_002474.3(MYH11):c.3651+5T>G
|
rs794727439
|
|
NM_002474.3(MYH11):c.3651+6_3651+11del
|
rs371843272
|
|
NM_002474.3(MYH11):c.3652-9C>G
|
rs1567705039
|
|
NM_002474.3(MYH11):c.3659C>T (p.Ala1220Val)
|
|
|
NM_002474.3(MYH11):c.3667G>C (p.Asp1223His)
|
rs1264829172
|
|
NM_002474.3(MYH11):c.3669C>A (p.Asp1223Glu)
|
rs111940956
|
|
NM_002474.3(MYH11):c.3672_3674del (p.Lys1224del)
|
|
|
NM_002474.3(MYH11):c.3688G>C (p.Glu1230Gln)
|
rs141948303
|
|
NM_002474.3(MYH11):c.3712G>C (p.Gly1238Arg)
|
rs558332944
|
|
NM_002474.3(MYH11):c.3712G>T (p.Gly1238Trp)
|
rs558332944
|
|
NM_002474.3(MYH11):c.3715G>A (p.Glu1239Lys)
|
rs1256787988
|
|
NM_002474.3(MYH11):c.3728T>C (p.Leu1243Pro)
|
rs1555554139
|
|
NM_002474.3(MYH11):c.3735G>C (p.Gln1245His)
|
rs2040796253
|
|
NM_002474.3(MYH11):c.3741G>C (p.Lys1247Asn)
|
|
|
NM_002474.3(MYH11):c.3745G>C (p.Glu1249Gln)
|
|
|
NM_002474.3(MYH11):c.3755A>T (p.His1252Leu)
|
|
|
NM_002474.3(MYH11):c.3757AAG[3] (p.Lys1256del)
|
rs730880147
|
|
NM_002474.3(MYH11):c.3759G>C (p.Lys1253Asn)
|
rs746842838
|
|
NM_002474.3(MYH11):c.3781G>A (p.Val1261Met)
|
rs1057518389
|
|
NM_002474.3(MYH11):c.3795G>C (p.Gln1265His)
|
rs2040792879
|
|
NM_002474.3(MYH11):c.3807C>A (p.Ser1269Arg)
|
|
|
NM_002474.3(MYH11):c.3808G>C (p.Asp1270His)
|
rs770319821
|
|
NM_002474.3(MYH11):c.3817C>G (p.Arg1273Gly)
|
rs142227497
|
|
NM_002474.3(MYH11):c.3818G>A (p.Arg1273Gln)
|
rs1473608237
|
|
NM_002474.3(MYH11):c.3818G>T (p.Arg1273Leu)
|
|
|
NM_002474.3(MYH11):c.3823C>T (p.Arg1275Trp)
|
rs1182738877
|
|
NM_002474.3(MYH11):c.3829G>A (p.Glu1277Lys)
|
|
|
NM_002474.3(MYH11):c.3832C>G (p.Leu1278Val)
|
rs2040790247
|
|
NM_002474.3(MYH11):c.3839A>C (p.Asp1280Ala)
|
|
|
NM_002474.3(MYH11):c.3845T>C (p.Val1282Ala)
|
rs1555554044
|
|
NM_002474.3(MYH11):c.3845T>G (p.Val1282Gly)
|
rs1555554044
|
|
NM_002474.3(MYH11):c.3856_3858+1dup
|
rs1013512621
|
|
NM_002474.3(MYH11):c.3873C>G (p.Ser1291Arg)
|
rs140339691
|
|
NM_002474.3(MYH11):c.3874G>A (p.Val1292Ile)
|
rs151058774
|
|
NM_002474.3(MYH11):c.3874G>C (p.Val1292Leu)
|
rs151058774
|
|
NM_002474.3(MYH11):c.3874G>T (p.Val1292Phe)
|
|
|
NM_002474.3(MYH11):c.3878C>G (p.Thr1293Arg)
|
rs2151219964
|
|
NM_002474.3(MYH11):c.3885G>T (p.Met1295Ile)
|
rs2040677902
|
|
NM_002474.3(MYH11):c.3901G>A (p.Gly1301Arg)
|
|
|
NM_002474.3(MYH11):c.3908C>A (p.Ala1303Asp)
|
|
|
NM_002474.3(MYH11):c.3914A>C (p.Lys1305Thr)
|
|
|
NM_002474.3(MYH11):c.391C>G (p.Leu131Val)
|
rs111247524
|
|
NM_002474.3(MYH11):c.3928G>T (p.Val1310Leu)
|
rs7196804
|
|
NM_002474.3(MYH11):c.3932C>A (p.Ala1311Glu)
|
|
|
NM_002474.3(MYH11):c.3949C>G (p.Leu1317Val)
|
|
|
NM_002474.3(MYH11):c.3959C>G (p.Thr1320Ser)
|
rs2040673806
|
|
NM_002474.3(MYH11):c.3963+2T>C
|
rs111325146
|
|
NM_002474.3(MYH11):c.3968T>C (p.Leu1323Pro)
|
|
|
NM_002474.3(MYH11):c.397A>G (p.Ile133Val)
|
rs2043468274
|
|
NM_002474.3(MYH11):c.3983C>A (p.Thr1328Asn)
|
rs2040665153
|
|
NM_002474.3(MYH11):c.3985C>T (p.Arg1329Trp)
|
|
|
NM_002474.3(MYH11):c.4000G>A (p.Val1334Met)
|
rs139377348
|
|
NM_002474.3(MYH11):c.4000G>T (p.Val1334Leu)
|
rs139377348
|
|
NM_002474.3(MYH11):c.4015C>A (p.Arg1339Ser)
|
rs754951425
|
|
NM_002474.3(MYH11):c.4021C>A (p.Leu1341Met)
|
|
|
NM_002474.3(MYH11):c.4039A>G (p.Ser1347Gly)
|
rs2151219347
|
|
NM_002474.3(MYH11):c.4048G>C (p.Asp1350His)
|
|
|
NM_002474.3(MYH11):c.4058A>T (p.Asp1353Val)
|
|
|
NM_002474.3(MYH11):c.4068G>A (p.Met1356Ile)
|
rs794728663
|
|
NM_002474.3(MYH11):c.4070A>C (p.Glu1357Ala)
|
|
|
NM_002474.3(MYH11):c.4087G>A (p.Glu1363Lys)
|
rs1398265916
|
|
NM_002474.3(MYH11):c.4089G>T (p.Glu1363Asp)
|
rs748585013
|
|
NM_002474.3(MYH11):c.4091G>A (p.Arg1364His)
|
|
|
NM_002474.3(MYH11):c.4106T>G (p.Leu1369Arg)
|
rs2040657857
|
|
NM_002474.3(MYH11):c.4114C>A (p.Gln1372Lys)
|
rs957879903
|
|
NM_002474.3(MYH11):c.4114C>G (p.Gln1372Glu)
|
|
|
NM_002474.3(MYH11):c.4129AAG[2] (p.Lys1379del)
|
rs748742555
|
|
NM_002474.3(MYH11):c.4150G>A (p.Ala1384Thr)
|
rs775802674
|
|
NM_002474.3(MYH11):c.4150G>C (p.Ala1384Pro)
|
|
|
NM_002474.3(MYH11):c.4154G>T (p.Ser1385Ile)
|
rs2040640042
|
|
NM_002474.3(MYH11):c.4158_4159delinsTA (p.Val1387Met)
|
rs2040639430
|
|
NM_002474.3(MYH11):c.4160T>G (p.Val1387Gly)
|
|
|
NM_002474.3(MYH11):c.4163A>T (p.Glu1388Val)
|
|
|
NM_002474.3(MYH11):c.4169T>C (p.Leu1390Pro)
|
rs2151218401
|
|
NM_002474.3(MYH11):c.4184A>G (p.Lys1395Arg)
|
rs1468559687
|
|
NM_002474.3(MYH11):c.4202T>C (p.Ile1401Thr)
|
rs765373729
|
|
NM_002474.3(MYH11):c.4203C>G (p.Ile1401Met)
|
rs760611400
|
|
NM_002474.3(MYH11):c.4210C>G (p.Leu1404Val)
|
|
|
NM_002474.3(MYH11):c.4220A>T (p.Gln1407Leu)
|
rs2151218283
|
|
NM_002474.3(MYH11):c.4238C>A (p.Ala1413Asp)
|
|
|
NM_002474.3(MYH11):c.423G>A (p.Met141Ile)
|
rs2043466892
|
|
NM_002474.3(MYH11):c.4240_4242delinsACG (p.Ala1414Thr)
|
rs794728676
|
|
NM_002474.3(MYH11):c.4241C>A (p.Ala1414Asp)
|
|
|
NM_002474.3(MYH11):c.4241_4242delinsTG (p.Ala1414Val)
|
rs2040634438
|
|
NM_002474.3(MYH11):c.4243T>G (p.Tyr1415Asp)
|
|
|
NM_002474.3(MYH11):c.4244A>G (p.Tyr1415Cys)
|
|
|
NM_002474.3(MYH11):c.4253T>A (p.Leu1418Gln)
|
rs2040633481
|
|
NM_002474.3(MYH11):c.4262C>T (p.Thr1421Ile)
|
rs146817436
|
|
NM_002474.3(MYH11):c.4269C>A (p.Asn1423Lys)
|
rs990642038
|
|
NM_002474.3(MYH11):c.4288G>A (p.Asp1430Asn)
|
|
|
NM_002474.3(MYH11):c.429G>T (p.Lys143Asn)
|
|
|
NM_002474.3(MYH11):c.4301T>C (p.Val1434Ala)
|
|
|
NM_002474.3(MYH11):c.4306T>G (p.Leu1436Val)
|
|
|
NM_002474.3(MYH11):c.4355A>G (p.Lys1452Arg)
|
rs1567699253
|
|
NM_002474.3(MYH11):c.4358T>G (p.Phe1453Cys)
|
rs151112745
|
|
NM_002474.3(MYH11):c.4367T>C (p.Leu1456Ser)
|
|
|
NM_002474.3(MYH11):c.4375G>A (p.Glu1459Lys)
|
rs1159818787
|
|
NM_002474.3(MYH11):c.4396A>C (p.Lys1466Gln)
|
rs749181134
|
|
NM_002474.3(MYH11):c.4407T>A (p.Asp1469Glu)
|
rs901607947
|
|
NM_002474.3(MYH11):c.440G>A (p.Arg147Lys)
|
rs2043466068
|
|
NM_002474.3(MYH11):c.4412G>A (p.Arg1471Lys)
|
rs2040487068
|
|
NM_002474.3(MYH11):c.4420G>A (p.Ala1474Thr)
|
rs886051741
|
|
NM_002474.3(MYH11):c.4431A>C (p.Glu1477Asp)
|
rs2040485781
|
|
NM_002474.3(MYH11):c.4431A>T (p.Glu1477Asp)
|
|
|
NM_002474.3(MYH11):c.4433C>G (p.Ala1478Gly)
|
rs886039156
|
|
NM_002474.3(MYH11):c.4440G>C (p.Glu1480Asp)
|
|
|
NM_002474.3(MYH11):c.444C>A (p.His148Gln)
|
rs569925780
|
|
NM_002474.3(MYH11):c.444C>G (p.His148Gln)
|
|
|
NM_002474.3(MYH11):c.4465G>A (p.Ala1489Thr)
|
|
|
NM_002474.3(MYH11):c.4479A>C (p.Glu1493Asp)
|
rs755712100
|
|
NM_002474.3(MYH11):c.4480G>C (p.Glu1494Gln)
|
rs375969176
|
|
NM_002474.3(MYH11):c.4486T>G (p.Leu1496Val)
|
rs568507502
|
|
NM_002474.3(MYH11):c.4499A>G (p.Glu1500Gly)
|
|
|
NM_002474.3(MYH11):c.4507G>A (p.Glu1503Lys)
|
rs766093291
|
|
NM_002474.3(MYH11):c.4511G>T (p.Arg1504Leu)
|
|
|
NM_002474.3(MYH11):c.4514C>T (p.Thr1505Ile)
|
rs2040481231
|
|
NM_002474.3(MYH11):c.4517A>G (p.Asn1506Ser)
|
rs1060500727
|
|
NM_002474.3(MYH11):c.4518C>G (p.Asn1506Lys)
|
|
|
NM_002474.3(MYH11):c.4519A>C (p.Lys1507Gln)
|
|
|
NM_002474.3(MYH11):c.4534G>A (p.Glu1512Lys)
|
rs1596721070
|
|
NM_002474.3(MYH11):c.4535A>T (p.Glu1512Val)
|
|
|
NM_002474.3(MYH11):c.4536A>C (p.Glu1512Asp)
|
rs771367057
|
|
NM_002474.3(MYH11):c.4540G>A (p.Glu1514Lys)
|
|
|
NM_002474.3(MYH11):c.4541A>T (p.Glu1514Val)
|
rs2040478111
|
|
NM_002474.3(MYH11):c.4567G>A (p.Val1523Met)
|
|
|
NM_002474.3(MYH11):c.4568T>C (p.Val1523Ala)
|
|
|
NM_002474.3(MYH11):c.4579G>T (p.Val1527Phe)
|
rs774544947
|
|
NM_002474.3(MYH11):c.4586_4598inv (p.Glu1529_Ser1533delinsGlyLeuLeuGlnLeu)
|
|
|
NM_002474.3(MYH11):c.4588C>A (p.Leu1530Met)
|
|
|
NM_002474.3(MYH11):c.4598C>G (p.Ser1533Cys)
|
rs748529935
|
|
NM_002474.3(MYH11):c.4601A>C (p.Lys1534Thr)
|
rs1330157483
|
|
NM_002474.3(MYH11):c.4610T>G (p.Leu1537Arg)
|
|
|
NM_002474.3(MYH11):c.4618C>G (p.Gln1540Glu)
|
|
|
NM_002474.3(MYH11):c.461T>G (p.Ile154Ser)
|
|
|
NM_002474.3(MYH11):c.4630A>T (p.Met1544Leu)
|
|
|
NM_002474.3(MYH11):c.463T>G (p.Tyr155Asp)
|
|
|
NM_002474.3(MYH11):c.4657G>A (p.Asp1553Asn)
|
rs2151208733
|
|
NM_002474.3(MYH11):c.4663C>G (p.Leu1555Val)
|
rs202231621
|
|
NM_002474.3(MYH11):c.4669G>A (p.Ala1557Thr)
|
rs2040439329
|
|
NM_002474.3(MYH11):c.4684A>G (p.Lys1562Glu)
|
|
|
NM_002474.3(MYH11):c.4690C>T (p.Arg1564Trp)
|
|
|
NM_002474.3(MYH11):c.4707G>A (p.Met1569Ile)
|
rs2040437613
|
|
NM_002474.3(MYH11):c.4709A>C (p.Gln1570Pro)
|
rs2040437510
|
|
NM_002474.3(MYH11):c.4725G>T (p.Gln1575His)
|
|
|
NM_002474.3(MYH11):c.4728C>A (p.Phe1576Leu)
|
rs765435868
|
|
NM_002474.3(MYH11):c.4753G>A (p.Glu1585Lys)
|
rs773895582
|
|
NM_002474.3(MYH11):c.4762GAG[1] (p.Glu1589del)
|
|
|
NM_002474.3(MYH11):c.4766A>G (p.Glu1589Gly)
|
|
|
NM_002474.3(MYH11):c.4773G>C (p.Arg1591Ser)
|
rs747923542
|
|
NM_002474.3(MYH11):c.4786A>G (p.Arg1596Gly)
|
rs754931029
|
|
NM_002474.3(MYH11):c.4800G>T (p.Glu1600Asp)
|
rs1328056044
|
|
NM_002474.3(MYH11):c.4801T>G (p.Tyr1601Asp)
|
|
|
NM_002474.3(MYH11):c.4811A>T (p.Glu1604Val)
|
|
|
NM_002474.3(MYH11):c.4819G>A (p.Asp1607Asn)
|
rs771990666
|
|
NM_002474.3(MYH11):c.4819G>T (p.Asp1607Tyr)
|
|
|
NM_002474.3(MYH11):c.4821C>T (p.Asp1607=)
|
rs749424185
|
|
NM_002474.3(MYH11):c.4846G>C (p.Ala1616Pro)
|
|
|
NM_002474.3(MYH11):c.4849G>A (p.Ala1617Thr)
|
rs2040395983
|
|
NM_002474.3(MYH11):c.4855AAG[2] (p.Lys1621del)
|
rs755547393
|
|
NM_002474.3(MYH11):c.4873G>A (p.Asp1625Asn)
|
|
|
NM_002474.3(MYH11):c.4890G>C (p.Glu1630Asp)
|
rs571540776
|
|
NM_002474.3(MYH11):c.4896G>C (p.Gln1632His)
|
rs2040393468
|
|
NM_002474.3(MYH11):c.4906G>C (p.Ala1636Pro)
|
rs376331652
|
|
NM_002474.3(MYH11):c.4915G>A (p.Gly1639Arg)
|
|
|
NM_002474.3(MYH11):c.4924G>A (p.Glu1642Lys)
|
rs2040391117
|
|
NM_002474.3(MYH11):c.4948C>A (p.Leu1650Met)
|
|
|
NM_002474.3(MYH11):c.4949T>A (p.Leu1650Gln)
|
|
|
NM_002474.3(MYH11):c.4951C>G (p.Gln1651Glu)
|
rs2151206068
|
|
NM_002474.3(MYH11):c.4953+5G>A
|
|
|
NM_002474.3(MYH11):c.4968C>G (p.Asp1656Glu)
|
|
|
NM_002474.3(MYH11):c.4975A>G (p.Arg1659Gly)
|
rs2151204765
|
|
NM_002474.3(MYH11):c.4991C>G (p.Ala1664Gly)
|
|
|
NM_002474.3(MYH11):c.4991C>T (p.Ala1664Val)
|
rs2040362704
|
|
NM_002474.3(MYH11):c.4994G>A (p.Arg1665His)
|
rs144813247
|
|
NM_002474.3(MYH11):c.5002A>T (p.Arg1668Ter)
|
|
|
NM_002474.3(MYH11):c.502+5G>C
|
rs376531977
|
|
NM_002474.3(MYH11):c.503-1G>A
|
rs2042810565
|
|
NM_002474.3(MYH11):c.5052C>G (p.Ser1684Arg)
|
rs760908992
|
|
NM_002474.3(MYH11):c.505C>T (p.Arg169Trp)
|
rs767290755
|
|
NM_002474.3(MYH11):c.5083-4del
|
|
|
NM_002474.3(MYH11):c.5092_5093delinsAG (p.Ala1698Ser)
|
rs2040340393
|
|
NM_002474.3(MYH11):c.5093C>T (p.Ala1698Val)
|
rs779639232
|
|
NM_002474.3(MYH11):c.5099A>T (p.Glu1700Val)
|
rs2040339703
|
|
NM_002474.3(MYH11):c.5102G>C (p.Arg1701Thr)
|
|
|
NM_002474.3(MYH11):c.5107C>T (p.Arg1703Cys)
|
rs201108170
|
|
NM_002474.3(MYH11):c.5114A>C (p.Gln1705Pro)
|
rs2040338321
|
|
NM_002474.3(MYH11):c.5120A>G (p.Asp1707Gly)
|
rs1567691518
|
|
NM_002474.3(MYH11):c.5125G>A (p.Glu1709Lys)
|
rs769202751
|
|
NM_002474.3(MYH11):c.5125G>C (p.Glu1709Gln)
|
|
|
NM_002474.3(MYH11):c.5149C>A (p.Leu1717Met)
|
|
|
NM_002474.3(MYH11):c.5150T>C (p.Leu1717Pro)
|
rs2040336060
|
|
NM_002474.3(MYH11):c.5187C>G (p.Asp1729Glu)
|
rs145101141
|
|
NM_002474.3(MYH11):c.5195G>A (p.Arg1732His)
|
rs1310012347
|
|
NM_002474.3(MYH11):c.5198G>A (p.Arg1733His)
|
|
|
NM_002474.3(MYH11):c.5200C>G (p.Leu1734Val)
|
rs2040284764
|
|
NM_002474.3(MYH11):c.5205G>T (p.Glu1735Asp)
|
rs1388279286
|
|
NM_002474.3(MYH11):c.5206G>A (p.Ala1736Thr)
|
|
|
NM_002474.3(MYH11):c.5209C>T (p.Arg1737Trp)
|
rs772907739
|
|
NM_002474.3(MYH11):c.5215G>A (p.Ala1739Thr)
|
rs1029371842
|
|
NM_002474.3(MYH11):c.5219A>G (p.Gln1740Arg)
|
|
|
NM_002474.3(MYH11):c.5220G>T (p.Gln1740His)
|
rs2040283176
|
|
NM_002474.3(MYH11):c.5222TGGAGGAGGAGC[1] (p.1741LEEE[1])
|
rs777249764
|
|
NM_002474.3(MYH11):c.5222TGGAGGAGGAGC[3] (p.1741LEEE[3])
|
rs777249764
|
|
NM_002474.3(MYH11):c.5224G>C (p.Glu1742Gln)
|
rs769680879
|
|
NM_002474.3(MYH11):c.5224GAG[2] (p.Glu1744del)
|
rs1224659472
|
|
NM_002474.3(MYH11):c.5225A>G (p.Glu1742Gly)
|
rs747864632
|
|
NM_002474.3(MYH11):c.5230G>A (p.Glu1744Lys)
|
|
|
NM_002474.3(MYH11):c.5248G>A (p.Gly1750Ser)
|
rs749462800
|
|
NM_002474.3(MYH11):c.5264T>A (p.Met1755Lys)
|
rs756538881
|
|
NM_002474.3(MYH11):c.5269G>T (p.Asp1757Tyr)
|
rs752996609
|
|
NM_002474.3(MYH11):c.5275G>C (p.Val1759Leu)
|
|
|
NM_002474.3(MYH11):c.5275G>T (p.Val1759Phe)
|
rs138059405
|
|
NM_002474.3(MYH11):c.5278C>A (p.Arg1760Ser)
|
rs764794087
|
|
NM_002474.3(MYH11):c.5279G>A (p.Arg1760His)
|
|
|
NM_002474.3(MYH11):c.5287A>G (p.Thr1763Ala)
|
rs2151201134
|
|
NM_002474.3(MYH11):c.5296-10_5296-9del
|
|
|
NM_002474.3(MYH11):c.5299G>C (p.Glu1767Gln)
|
|
|
NM_002474.3(MYH11):c.5308A>C (p.Ser1770Arg)
|
|
|
NM_002474.3(MYH11):c.531-13C>A
|
|
|
NM_002474.3(MYH11):c.531-2A>G
|
rs2042478374
|
|
NM_002474.3(MYH11):c.5336C>A (p.Thr1779Lys)
|
rs201960644
|
|
NM_002474.3(MYH11):c.5343GAA[1] (p.Lys1782del)
|
rs2151198418
|
|
NM_002474.3(MYH11):c.5349T>A (p.Asn1783Lys)
|
rs112201211
|
|
NM_002474.3(MYH11):c.5353_5355delinsTGC (p.Ser1785Cys)
|
|
|
NM_002474.3(MYH11):c.5357C>T (p.Ala1786Val)
|
rs1567687948
|
|
NM_002474.3(MYH11):c.535G>A (p.Glu179Lys)
|
|
|
NM_002474.3(MYH11):c.5371G>A (p.Glu1791Lys)
|
rs368269107
|
|
NM_002474.3(MYH11):c.5371G>C (p.Glu1791Gln)
|
rs368269107
|
|
NM_002474.3(MYH11):c.5396G>C (p.Ser1799Thr)
|
rs776016983
|
|
NM_002474.3(MYH11):c.5398A>G (p.Lys1800Glu)
|
|
|
NM_002474.3(MYH11):c.5401C>T (p.Leu1801Phe)
|
|
|
NM_002474.3(MYH11):c.5404_5406del (p.His1802del)
|
rs2040205677
|
|
NM_002474.3(MYH11):c.5407G>A (p.Glu1803Lys)
|
rs1314387438
|
|
NM_002474.3(MYH11):c.5412G>A (p.Met1804Ile)
|
rs748806263
|
|
NM_002474.3(MYH11):c.5417G>C (p.Gly1806Ala)
|
|
|
NM_002474.3(MYH11):c.5428T>C (p.Ser1810Pro)
|
|
|
NM_002474.3(MYH11):c.5438_5443dup (p.Lys1813_Ser1814dup)
|
rs1567687613
|
|
NM_002474.3(MYH11):c.5444_5448dup (p.Ala1817fs)
|
|
|
NM_002474.3(MYH11):c.5452_5453delinsTT (p.Ala1818Leu)
|
|
|
NM_002474.3(MYH11):c.5468T>C (p.Ile1823Thr)
|
rs769337030
|
|
NM_002474.3(MYH11):c.5482G>A (p.Glu1828Lys)
|
|
|
NM_002474.3(MYH11):c.5485C>A (p.Gln1829Lys)
|
rs1005977032
|
|
NM_002474.3(MYH11):c.5488G>A (p.Val1830Ile)
|
rs185904370
|
|
NM_002474.3(MYH11):c.5489_5497del (p.Val1830_Gln1832del)
|
rs2040197454
|
|
NM_002474.3(MYH11):c.5490C>A (p.Val1830=)
|
rs770582589
|
|
NM_002474.3(MYH11):c.5491G>A (p.Glu1831Lys)
|
rs750433973
|
|
NM_002474.3(MYH11):c.5491G>C (p.Glu1831Gln)
|
rs750433973
|
|
NM_002474.3(MYH11):c.5528C>G (p.Ser1843Trp)
|
rs148621523
|
|
NM_002474.3(MYH11):c.5551C>G (p.Leu1851Val)
|
rs2040060024
|
|
NM_002474.3(MYH11):c.5578G>A (p.Asp1860Asn)
|
|
|
NM_002474.3(MYH11):c.5579A>G (p.Asp1860Gly)
|
|
|
NM_002474.3(MYH11):c.5597A>G (p.Glu1866Gly)
|
|
|
NM_002474.3(MYH11):c.5614G>C (p.Ala1872Pro)
|
|
|
NM_002474.3(MYH11):c.5617G>C (p.Glu1873Gln)
|
rs2040046772
|
|
NM_002474.3(MYH11):c.5642A>G (p.Gln1881Arg)
|
|
|
NM_002474.3(MYH11):c.5644C>T (p.Leu1882Phe)
|
rs2040044275
|
|
NM_002474.3(MYH11):c.5656_5668del (p.Leu1886fs)
|
|
|
NM_002474.3(MYH11):c.5674G>A (p.Glu1892Lys)
|
|
|
NM_002474.3(MYH11):c.5683C>A (p.Arg1895Ser)
|
rs992494235
|
|
NM_002474.3(MYH11):c.5683C>T (p.Arg1895Cys)
|
rs992494235
|
|
NM_002474.3(MYH11):c.5691C>A (p.Asn1897Lys)
|
|
|
NM_002474.3(MYH11):c.5702G>A (p.Arg1901Lys)
|
rs2151192042
|
|
NM_002474.3(MYH11):c.5711A>G (p.Gln1904Arg)
|
rs2151192036
|
|
NM_002474.3(MYH11):c.5713C>T (p.Arg1905Trp)
|
rs749422717
|
|
NM_002474.3(MYH11):c.5723A>C (p.Asp1908Ala)
|
|
|
NM_002474.3(MYH11):c.5734G>C (p.Glu1912Gln)
|
|
|
NM_002474.3(MYH11):c.5737A>C (p.Ser1913Arg)
|
rs760586766
|
|
NM_002474.3(MYH11):c.5761G>A (p.Val1921Met)
|
rs886051737
|
|
NM_002474.3(MYH11):c.5787-4683C>A
|
|
|
NM_002474.3(MYH11):c.5788_5789insTTC (p.Arg1929_Arg1930insLeu)
|
rs764285909
|
|
NM_002474.3(MYH11):c.5796C>A (p.Asn1932Lys)
|
|
|
NM_002474.3(MYH11):c.57C>A (p.Asn19Lys)
|
rs148464745
|
|
NM_002474.3(MYH11):c.5809G>C (p.Val1937Leu)
|
|
|
NM_002474.3(MYH11):c.5825C>T (p.Ser1942Phe)
|
rs2039323650
|
|
NM_002474.3(MYH11):c.5833C>T (p.Arg1945Cys)
|
rs751862398
|
|
NM_002474.3(MYH11):c.5834G>A (p.Arg1945His)
|
|
|
NM_002474.3(MYH11):c.5836A>G (p.Arg1946Gly)
|
|
|
NM_002474.3(MYH11):c.5843T>C (p.Ile1948Thr)
|
rs764843752
|
|
NM_002474.3(MYH11):c.5857G>A (p.Gly1953Ser)
|
|
|
NM_002474.3(MYH11):c.5864A>T (p.Glu1955Val)
|
rs2039321532
|
|
NM_002474.3(MYH11):c.5879C>A (p.Thr1960Asn)
|
|
|
NM_002474.3(MYH11):c.5881C>T (p.Arg1961Ter)
|
rs772155686
|
|
NM_002474.3(MYH11):c.5897A>G (p.Asn1966Ser)
|
rs1317809527
|
|
NM_002474.3(MYH11):c.589G>A (p.Val197Met)
|
rs1397436456
|
|
NM_002474.3(MYH11):c.595G>T (p.Ala199Ser)
|
|
|
NM_002474.3(MYH11):c.598T>C (p.Ser200Pro)
|
rs763151112
|
|
NM_002474.3(MYH11):c.59T>G (p.Phe20Cys)
|
rs2043957002
|
|
NM_002474.3(MYH11):c.604C>T (p.His202Tyr)
|
|
|
NM_002474.3(MYH11):c.605A>C (p.His202Pro)
|
rs369194676
|
|
NM_002474.3(MYH11):c.623C>A (p.Thr208Lys)
|
|
|
NM_002474.3(MYH11):c.633+1900_633+1902del
|
rs2042429734
|
|
NM_002474.3(MYH11):c.633+1905A>G
|
|
|
NM_002474.3(MYH11):c.633+1937G>A
|
rs2151305406
|
|
NM_002474.3(MYH11):c.633G>A (p.Thr211=)
|
rs765225250
|
|
NM_002474.3(MYH11):c.633G>T (p.Thr211=)
|
rs765225250
|
|
NM_002474.3(MYH11):c.658C>A (p.Gln220Lys)
|
rs1331223159
|
|
NM_002474.3(MYH11):c.70C>G (p.Pro24Ala)
|
rs752441599
|
|
NM_002474.3(MYH11):c.726+2dup
|
rs2151303032
|
|
NM_002474.3(MYH11):c.726+6T>C
|
rs2042375648
|
|
NM_002474.3(MYH11):c.727-11C>T
|
rs886051766
|
|
NM_002474.3(MYH11):c.727-8G>T
|
|
|
NM_002474.3(MYH11):c.736A>G (p.Ile246Val)
|
rs2042283446
|
|
NM_002474.3(MYH11):c.746A>G (p.Asn249Ser)
|
|
|
NM_002474.3(MYH11):c.751G>A (p.Asp251Asn)
|
|
|
NM_002474.3(MYH11):c.754G>A (p.Val252Ile)
|
rs772078130
|
|
NM_002474.3(MYH11):c.804A>C (p.Lys268Asn)
|
|
|
NM_002474.3(MYH11):c.847A>C (p.Ile283Leu)
|
rs1680622570
|
|
NM_002474.3(MYH11):c.852T>G (p.Phe284Leu)
|
rs2042215219
|
|
NM_002474.3(MYH11):c.854A>G (p.Tyr285Cys)
|
|
|
NM_002474.3(MYH11):c.861G>A (p.Met287Ile)
|
rs1371371071
|
|
NM_002474.3(MYH11):c.86A>C (p.Asp29Ala)
|
rs2151381525
|
|
NM_002474.3(MYH11):c.886A>G (p.Arg296Gly)
|
rs2042214133
|
|
NM_002474.3(MYH11):c.890-4C>T
|
|
|
NM_002474.3(MYH11):c.907G>A (p.Gly303Ser)
|
|
|
NM_002474.3(MYH11):c.915C>G (p.Asn305Lys)
|
rs2042105489
|
|
NM_002474.3(MYH11):c.91GCC[1] (p.Ala32del)
|
|
|
NM_002474.3(MYH11):c.922A>G (p.Thr308Ala)
|
|
|
NM_002474.3(MYH11):c.928C>T (p.Leu310Phe)
|
rs2151291395
|
|
NM_002474.3(MYH11):c.952C>T (p.Pro318Ser)
|
|
|
NM_002474.3(MYH11):c.953C>T (p.Pro318Leu)
|
rs1567747453
|
|
NM_002474.3(MYH11):c.963G>C (p.Gln321His)
|
rs794728673
|
|
NM_002474.3(MYH11):c.964_969delinsCA (p.Asp322fs)
|
|
|
NM_002474.3(MYH11):c.986C>T (p.Thr329Ile)
|
|
|
NM_002474.3(MYH11):c.994G>T (p.Ala332Ser)
|
rs2042103218
|
|
NM_002474.3(MYH11):c.99G>C (p.Lys33Asn)
|
rs886038944
|
|
NM_003036.4(SKI):c.1054C>A (p.Pro352Thr)
|
rs755862763
|
|
NM_003036.4(SKI):c.1057T>C (p.Ser353Pro)
|
|
|
NM_003036.4(SKI):c.1061G>T (p.Ser354Ile)
|
|
|
NM_003036.4(SKI):c.1076T>C (p.Leu359Ser)
|
|
|
NM_003036.4(SKI):c.1087T>A (p.Ser363Thr)
|
|
|
NM_003036.4(SKI):c.1094A>G (p.Lys365Arg)
|
|
|
NM_003036.4(SKI):c.1129T>G (p.Ser377Ala)
|
|
|
NM_003036.4(SKI):c.1166G>T (p.Ser389Ile)
|
|
|
NM_003036.4(SKI):c.1177C>A (p.Leu393Ile)
|
|
|
NM_003036.4(SKI):c.1184C>G (p.Pro395Arg)
|
|
|
NM_003036.4(SKI):c.1189C>G (p.Leu397Val)
|
|
|
NM_003036.4(SKI):c.1204C>G (p.Arg402Gly)
|
|
|
NM_003036.4(SKI):c.1205G>A (p.Arg402Gln)
|
rs557289756
|
|
NM_003036.4(SKI):c.1297C>T (p.Pro433Ser)
|
|
|
NM_003036.4(SKI):c.1307C>T (p.Ala436Val)
|
|
|
NM_003036.4(SKI):c.1315G>T (p.Val439Phe)
|
rs575093513
|
|
NM_003036.4(SKI):c.131A>T (p.Gln44Leu)
|
|
|
NM_003036.4(SKI):c.1322G>A (p.Arg441Gln)
|
|
|
NM_003036.4(SKI):c.1327C>G (p.Pro443Ala)
|
rs1569860183
|
|
NM_003036.4(SKI):c.1357C>G (p.Arg453Gly)
|
|
|
NM_003036.4(SKI):c.1373C>T (p.Thr458Ile)
|
|
|
NM_003036.4(SKI):c.1391C>T (p.Ala464Val)
|
|
|
NM_003036.4(SKI):c.1398G>T (p.Glu466Asp)
|
|
|
NM_003036.4(SKI):c.139T>C (p.Tyr47His)
|
|
|
NM_003036.4(SKI):c.1415C>T (p.Ala472Val)
|
|
|
NM_003036.4(SKI):c.1418C>T (p.Ala473Val)
|
rs1198385228
|
|
NM_003036.4(SKI):c.1424A>G (p.Glu475Gly)
|
|
|
NM_003036.4(SKI):c.1433A>G (p.Lys478Arg)
|
|
|
NM_003036.4(SKI):c.1450G>A (p.Val484Met)
|
|
|
NM_003036.4(SKI):c.1487T>C (p.Leu496Ser)
|
|
|
NM_003036.4(SKI):c.1493C>T (p.Ser498Leu)
|
|
|
NM_003036.4(SKI):c.1528G>T (p.Ala510Ser)
|
|
|
NM_003036.4(SKI):c.152G>A (p.Ser51Asn)
|
|
|
NM_003036.4(SKI):c.154G>T (p.Ala52Ser)
|
|
|
NM_003036.4(SKI):c.155C>T (p.Ala52Val)
|
|
|
NM_003036.4(SKI):c.1597G>A (p.Asp533Asn)
|
|
|
NM_003036.4(SKI):c.1627G>A (p.Glu543Lys)
|
|
|
NM_003036.4(SKI):c.1628A>G (p.Glu543Gly)
|
|
|
NM_003036.4(SKI):c.1630C>T (p.His544Tyr)
|
|
|
NM_003036.4(SKI):c.1651G>T (p.Gly551Cys)
|
rs1225179301
|
|
NM_003036.4(SKI):c.1705A>G (p.Met569Val)
|
|
|
NM_003036.4(SKI):c.1706T>C (p.Met569Thr)
|
|
|
NM_003036.4(SKI):c.1709G>A (p.Arg570His)
|
|
|
NM_003036.4(SKI):c.1741C>G (p.Leu581Val)
|
|
|
NM_003036.4(SKI):c.1753C>T (p.Arg585Cys)
|
|
|
NM_003036.4(SKI):c.1754G>A (p.Arg585His)
|
rs1251950898
|
|
NM_003036.4(SKI):c.1786G>C (p.Val596Leu)
|
|
|
NM_003036.4(SKI):c.1861G>A (p.Ala621Thr)
|
|
|
NM_003036.4(SKI):c.1866G>C (p.Glu622Asp)
|
|
|
NM_003036.4(SKI):c.1871AGA[2] (p.Lys626del)
|
rs863223726
|
|
NM_003036.4(SKI):c.1885G>C (p.Glu629Gln)
|
|
|
NM_003036.4(SKI):c.1913A>G (p.Lys638Arg)
|
|
|
NM_003036.4(SKI):c.191T>G (p.Val64Gly)
|
|
|
NM_003036.4(SKI):c.1942C>G (p.Arg648Gly)
|
rs555623960
|
|
NM_003036.4(SKI):c.1955A>G (p.Lys652Arg)
|
|
|
NM_003036.4(SKI):c.1963G>A (p.Glu655Lys)
|
|
|
NM_003036.4(SKI):c.1981G>A (p.Ala661Thr)
|
|
|
NM_003036.4(SKI):c.1996C>G (p.Gln666Glu)
|
|
|
NM_003036.4(SKI):c.2001C>G (p.Ile667Met)
|
|
|
NM_003036.4(SKI):c.2014G>T (p.Val672Leu)
|
|
|
NM_003036.4(SKI):c.2047C>G (p.Gln683Glu)
|
|
|
NM_003036.4(SKI):c.2049_2090del (p.Gln683_Glu696del)
|
|
|
NM_003036.4(SKI):c.2056G>T (p.Ala686Ser)
|
|
|
NM_003036.4(SKI):c.2061C>A (p.Asp687Glu)
|
rs1021794039
|
|
NM_003036.4(SKI):c.2098_2099delinsGT (p.Lys700Val)
|
|
|
NM_003036.4(SKI):c.2140C>G (p.Arg714Gly)
|
|
|
NM_003036.4(SKI):c.217G>T (p.Val73Leu)
|
|
|
NM_003036.4(SKI):c.240GCC[5] (p.Pro84dup)
|
rs746731483
|
|
NM_003036.4(SKI):c.260C>G (p.Pro87Arg)
|
|
|
NM_003036.4(SKI):c.28T>G (p.Cys10Gly)
|
|
|
NM_003036.4(SKI):c.29G>A (p.Cys10Tyr)
|
rs1553189820
|
|
NM_003036.4(SKI):c.304G>A (p.Glu102Lys)
|
rs1638570854
|
|
NM_003036.4(SKI):c.311T>C (p.Val104Ala)
|
rs886039149
|
|
NM_003036.4(SKI):c.316G>C (p.Glu106Gln)
|
|
|
NM_003036.4(SKI):c.318A>T (p.Glu106Asp)
|
|
|
NM_003036.4(SKI):c.320G>A (p.Gly107Asp)
|
|
|
NM_003036.4(SKI):c.33C>G (p.Phe11Leu)
|
|
|
NM_003036.4(SKI):c.41A>C (p.His14Pro)
|
rs1232615367
|
|
NM_003036.4(SKI):c.46G>A (p.Gly16Arg)
|
|
|
NM_003036.4(SKI):c.547G>A (p.Glu183Lys)
|
rs1290478159
|
|
NM_003036.4(SKI):c.560A>G (p.Asn187Ser)
|
|
|
NM_003036.4(SKI):c.581C>A (p.Ala194Asp)
|
rs746882046
|
|
NM_003036.4(SKI):c.592C>T (p.Pro198Ser)
|
|
|
NM_003036.4(SKI):c.605A>C (p.Glu202Ala)
|
rs977288994
|
|
NM_003036.4(SKI):c.623C>T (p.Ala208Val)
|
rs1276237576
|
|
NM_003036.4(SKI):c.647G>C (p.Arg216Pro)
|
|
|
NM_003036.4(SKI):c.664C>G (p.His222Asp)
|
rs1553189999
|
|
NM_003036.4(SKI):c.827T>A (p.Phe276Tyr)
|
rs1557807366
|
|
NM_003036.4(SKI):c.848C>T (p.Ala283Val)
|
|
|
NM_003036.4(SKI):c.86T>G (p.Met29Arg)
|
|
|
NM_003036.4(SKI):c.877G>A (p.Gly293Ser)
|
|
|
NM_003036.4(SKI):c.898C>T (p.Leu300Phe)
|
rs1569660908
|
|
NM_003036.4(SKI):c.89G>A (p.Ser30Asn)
|
|
|
NM_003036.4(SKI):c.8C>T (p.Ala3Val)
|
rs1553189801
|
|
NM_003036.4(SKI):c.901G>A (p.Gly301Ser)
|
|
|
NM_003036.4(SKI):c.959G>A (p.Arg320Gln)
|
|
|
NM_003036.4(SKI):c.965C>G (p.Pro322Arg)
|
|
|
NM_003036.4(SKI):c.970-3C>T
|
|
|
NM_003036.4(SKI):c.982C>G (p.Pro328Ala)
|
|
|
NM_003036.4(SKI):c.983C>T (p.Pro328Leu)
|
|
|
NM_003238.6(TGFB2):c.1009G>A (p.Glu337Lys)
|
rs1476361240
|
|
NM_003238.6(TGFB2):c.1012C>T (p.Pro338Ser)
|
|
|
NM_003238.6(TGFB2):c.1033T>C (p.Phe345Leu)
|
rs748732392
|
|
NM_003238.6(TGFB2):c.1045G>A (p.Ala349Thr)
|
|
|
NM_003238.6(TGFB2):c.1086G>A (p.Arg362=)
|
|
|
NM_003238.6(TGFB2):c.1126G>A (p.Ala376Thr)
|
|
|
NM_003238.6(TGFB2):c.112G>A (p.Glu38Lys)
|
|
|
NM_003238.6(TGFB2):c.1196A>C (p.Lys399Thr)
|
rs1660144102
|
|
NM_003238.6(TGFB2):c.1237T>A (p.Cys413Ser)
|
rs869025532
|
|
NM_003238.6(TGFB2):c.143T>G (p.Leu48Arg)
|
rs1553292088
|
|
NM_003238.6(TGFB2):c.173C>T (p.Pro58Leu)
|
|
|
NM_003238.6(TGFB2):c.176A>G (p.Glu59Gly)
|
|
|
NM_003238.6(TGFB2):c.191C>T (p.Pro64Leu)
|
|
|
NM_003238.6(TGFB2):c.193C>T (p.Pro65Ser)
|
rs747128130
|
|
NM_003238.6(TGFB2):c.285C>A (p.Asp95Glu)
|
rs767393318
|
|
NM_003238.6(TGFB2):c.286G>C (p.Glu96Gln)
|
|
|
NM_003238.6(TGFB2):c.298G>C (p.Ala100Pro)
|
|
|
NM_003238.6(TGFB2):c.331T>G (p.Phe111Val)
|
|
|
NM_003238.6(TGFB2):c.336C>G (p.Phe112Leu)
|
|
|
NM_003238.6(TGFB2):c.346+4_346+7del
|
rs1558220436
|
|
NM_003238.6(TGFB2):c.346+5G>A
|
rs886042712
|
|
NM_003238.6(TGFB2):c.392G>A (p.Arg131Gln)
|
rs758366080
|
|
NM_003238.6(TGFB2):c.406G>A (p.Ala136Thr)
|
|
|
NM_003238.6(TGFB2):c.410T>C (p.Met137Thr)
|
rs1264824521
|
|
NM_003238.6(TGFB2):c.440_442del (p.Ala147del)
|
|
|
NM_003238.6(TGFB2):c.472A>G (p.Lys158Glu)
|
|
|
NM_003238.6(TGFB2):c.475G>A (p.Ala159Thr)
|
|
|
NM_003238.6(TGFB2):c.494G>A (p.Arg165Gln)
|
|
|
NM_003238.6(TGFB2):c.511-10del
|
rs376560786
|
|
NM_003238.6(TGFB2):c.511-6C>G
|
rs1558262140
|
|
NM_003238.6(TGFB2):c.514C>A (p.Leu172Ile)
|
|
|
NM_003238.6(TGFB2):c.53C>T (p.Ala18Val)
|
|
|
NM_003238.6(TGFB2):c.559A>G (p.Ser187Gly)
|
rs759729701
|
|
NM_003238.6(TGFB2):c.595C>T (p.Leu199Phe)
|
|
|
NM_003238.6(TGFB2):c.611C>T (p.Thr204Ile)
|
rs1659896577
|
|
NM_003238.6(TGFB2):c.614_619del (p.Asp205_Ala206del)
|
rs1659896680
|
|
NM_003238.6(TGFB2):c.625G>A (p.Glu209Lys)
|
|
|
NM_003238.6(TGFB2):c.668G>T (p.Ser223Ile)
|
rs957164399
|
|
NM_003238.6(TGFB2):c.73A>C (p.Ser25Arg)
|
|
|
NM_003238.6(TGFB2):c.755-10T>C
|
rs2102628419
|
|
NM_003238.6(TGFB2):c.755G>A (p.Gly252Asp)
|
|
|
NM_003238.6(TGFB2):c.778A>G (p.Thr260Ala)
|
rs1659957362
|
|
NM_003238.6(TGFB2):c.784G>A (p.Gly262Ser)
|
|
|
NM_003238.6(TGFB2):c.793A>G (p.Lys265Glu)
|
rs886038965
|
|
NM_003238.6(TGFB2):c.812G>A (p.Arg271Lys)
|
|
|
NM_003238.6(TGFB2):c.818A>G (p.Lys273Arg)
|
|
|
NM_003238.6(TGFB2):c.829A>G (p.Lys277Glu)
|
|
|
NM_003238.6(TGFB2):c.877T>G (p.Ser293Ala)
|
|
|
NM_003238.6(TGFB2):c.892C>T (p.Arg298Trp)
|
|
|
NM_003238.6(TGFB2):c.917C>T (p.Ala306Val)
|
|
|
NM_003238.6(TGFB2):c.923A>C (p.Tyr308Ser)
|
|
|
NM_003238.6(TGFB2):c.937G>C (p.Val313Leu)
|
|
|
NM_003238.6(TGFB2):c.961C>A (p.Pro321Thr)
|
|
|
NM_003238.6(TGFB2):c.988C>G (p.Leu330Val)
|
rs2102630064
|
|
NM_003238.6(TGFB2):c.98T>G (p.Met33Arg)
|
rs1558220002
|
|
NM_003239.5(TGFB3):c.-1C>T
|
|
|
NM_003239.5(TGFB3):c.1001A>G (p.His334Arg)
|
rs1021920873
|
|
NM_003239.5(TGFB3):c.1055G>A (p.Arg352His)
|
rs755894337
|
|
NM_003239.5(TGFB3):c.107A>C (p.Lys36Thr)
|
|
|
NM_003239.5(TGFB3):c.107AGA[2] (p.Lys38del)
|
rs1257515732
|
|
NM_003239.5(TGFB3):c.1080G>C (p.Thr360=)
|
rs1555360212
|
|
NM_003239.5(TGFB3):c.1108C>G (p.Pro370Ala)
|
rs1555360046
|
|
NM_003239.5(TGFB3):c.1117T>C (p.Ser373Pro)
|
|
|
NM_003239.5(TGFB3):c.1124C>T (p.Ser375Leu)
|
rs780254258
|
|
NM_003239.5(TGFB3):c.1138C>T (p.Pro380Ser)
|
rs1555360033
|
|
NM_003239.5(TGFB3):c.1143G>T (p.Gln381His)
|
rs893375581
|
|
NM_003239.5(TGFB3):c.1150G>C (p.Glu384Gln)
|
|
|
NM_003239.5(TGFB3):c.1208A>G (p.Asn403Ser)
|
|
|
NM_003239.5(TGFB3):c.1219A>G (p.Lys407Glu)
|
rs1248127840
|
|
NM_003239.5(TGFB3):c.1221G>C (p.Lys407Asn)
|
|
|
NM_003239.5(TGFB3):c.1231T>G (p.Cys411Gly)
|
|
|
NM_003239.5(TGFB3):c.133G>A (p.Gly45Arg)
|
|
|
NM_003239.5(TGFB3):c.154A>T (p.Arg52Trp)
|
rs1441479444
|
|
NM_003239.5(TGFB3):c.176C>T (p.Pro59Leu)
|
rs1594792447
|
|
NM_003239.5(TGFB3):c.188C>T (p.Thr63Ile)
|
|
|
NM_003239.5(TGFB3):c.194T>C (p.Val65Ala)
|
|
|
NM_003239.5(TGFB3):c.200A>G (p.Tyr67Cys)
|
|
|
NM_003239.5(TGFB3):c.221A>G (p.Asn74Ser)
|
rs1279947435
|
|
NM_003239.5(TGFB3):c.229C>T (p.Arg77Trp)
|
rs150817760
|
|
NM_003239.5(TGFB3):c.275C>A (p.Thr92Asn)
|
|
|
NM_003239.5(TGFB3):c.281A>G (p.Glu94Gly)
|
|
|
NM_003239.5(TGFB3):c.323T>C (p.Phe108Ser)
|
rs1555361384
|
|
NM_003239.5(TGFB3):c.325G>A (p.Asp109Asn)
|
rs986180095
|
|
NM_003239.5(TGFB3):c.338G>A (p.Gly113Glu)
|
rs1555361380
|
|
NM_003239.5(TGFB3):c.351C>G (p.His117Gln)
|
|
|
NM_003239.5(TGFB3):c.353-4C>G
|
|
|
NM_003239.5(TGFB3):c.361G>C (p.Ala121Pro)
|
|
|
NM_003239.5(TGFB3):c.395T>C (p.Phe132Ser)
|
rs1555360876
|
|
NM_003239.5(TGFB3):c.397C>T (p.Arg133Cys)
|
|
|
NM_003239.5(TGFB3):c.398G>A (p.Arg133His)
|
rs761890018
|
|
NM_003239.5(TGFB3):c.416T>C (p.Val139Ala)
|
rs1422804503
|
|
NM_003239.5(TGFB3):c.431C>A (p.Thr144Asn)
|
rs1594788076
|
|
NM_003239.5(TGFB3):c.436C>A (p.Leu146Ile)
|
|
|
NM_003239.5(TGFB3):c.48C>G (p.Asn16Lys)
|
|
|
NM_003239.5(TGFB3):c.504C>G (p.Ile168Met)
|
rs148029842
|
|
NM_003239.5(TGFB3):c.505G>A (p.Glu169Lys)
|
rs1555360808
|
|
NM_003239.5(TGFB3):c.50T>G (p.Phe17Cys)
|
|
|
NM_003239.5(TGFB3):c.548A>G (p.Gln183Arg)
|
|
|
NM_003239.5(TGFB3):c.557T>G (p.Ile186Ser)
|
rs763289805
|
|
NM_003239.5(TGFB3):c.55A>G (p.Thr19Ala)
|
|
|
NM_003239.5(TGFB3):c.581G>C (p.Arg194Pro)
|
rs760707107
|
|
NM_003239.5(TGFB3):c.583G>T (p.Gly195Cys)
|
|
|
NM_003239.5(TGFB3):c.626G>C (p.Arg209Pro)
|
|
|
NM_003239.5(TGFB3):c.650C>G (p.Ser217Cys)
|
|
|
NM_003239.5(TGFB3):c.65T>A (p.Leu22His)
|
|
|
NM_003239.5(TGFB3):c.68C>G (p.Ser23Cys)
|
|
|
NM_003239.5(TGFB3):c.698A>T (p.Gln233Leu)
|
rs1349938834
|
|
NM_003239.5(TGFB3):c.704A>G (p.Asn235Ser)
|
|
|
NM_003239.5(TGFB3):c.727C>A (p.His243Asn)
|
rs1045402283
|
|
NM_003239.5(TGFB3):c.754+5C>T
|
rs754211381
|
|
NM_003239.5(TGFB3):c.756C>T (p.Gly252=)
|
rs369435862
|
|
NM_003239.5(TGFB3):c.766G>A (p.Glu256Lys)
|
|
|
NM_003239.5(TGFB3):c.778G>A (p.Gly260Ser)
|
|
|
NM_003239.5(TGFB3):c.782G>C (p.Arg261Pro)
|
rs547264290
|
|
NM_003239.5(TGFB3):c.797G>T (p.Arg266Leu)
|
rs142069844
|
|
NM_003239.5(TGFB3):c.816T>A (p.Asp272Glu)
|
|
|
NM_003239.5(TGFB3):c.821A>T (p.His274Leu)
|
|
|
NM_003239.5(TGFB3):c.830_832del (p.His277del)
|
rs1555360376
|
|
NM_003239.5(TGFB3):c.838C>T (p.Leu280Phe)
|
|
|
NM_003239.5(TGFB3):c.854C>G (p.Pro285Arg)
|
|
|
NM_003239.5(TGFB3):c.860G>A (p.Arg287Gln)
|
|
|
NM_003239.5(TGFB3):c.865G>A (p.Asp289Asn)
|
|
|
NM_003239.5(TGFB3):c.926G>A (p.Arg309His)
|
rs1057524768
|
|
NM_003239.5(TGFB3):c.946T>C (p.Cys316Arg)
|
rs2035150933
|
|
NM_003239.5(TGFB3):c.952C>T (p.Arg318Cys)
|
rs2140236263
|
|
NM_003239.5(TGFB3):c.953G>A (p.Arg318His)
|
|
|
NM_003239.5(TGFB3):c.956C>T (p.Pro319Leu)
|
rs1595337739
|
|
NM_003239.5(TGFB3):c.964A>G (p.Ile322Val)
|
rs1555360234
|
|
NM_003239.5(TGFB3):c.96C>A (p.Phe32Leu)
|
rs748977151
|
|
NM_003239.5(TGFB3):c.974G>A (p.Arg325Gln)
|
rs771391164
|
|
NM_003239.5(TGFB3):c.974G>T (p.Arg325Leu)
|
rs771391164
|
|
NM_003239.5(TGFB3):c.979G>T (p.Asp327Tyr)
|
rs747427366
|
|
NM_003239.5(TGFB3):c.985G>T (p.Gly329Cys)
|
rs2035150012
|
|
NM_003239.5(TGFB3):c.986G>A (p.Gly329Asp)
|
|
|
NM_003239.5(TGFB3):c.995G>T (p.Trp332Leu)
|
rs1555360218
|
|
NM_003242.5(TGFBR2):c.-344C>A
|
rs886058298
|
|
NM_003242.6(TGFBR2):c.*1211A>T
|
rs886058319
|
|
NM_003242.6(TGFBR2):c.*1326G>A
|
rs886058320
|
|
NM_003242.6(TGFBR2):c.*1842G>T
|
rs886058321
|
|
NM_003242.6(TGFBR2):c.*1859G>T
|
rs886058322
|
|
NM_003242.6(TGFBR2):c.*1860C>A
|
rs886058323
|
|
NM_003242.6(TGFBR2):c.*1887G>T
|
rs886058324
|
|
NM_003242.6(TGFBR2):c.*226C>A
|
rs886058307
|
|
NM_003242.6(TGFBR2):c.*2332A>C
|
rs886058326
|
|
NM_003242.6(TGFBR2):c.*2335T>A
|
rs886058327
|
|
NM_003242.6(TGFBR2):c.*2437T>A
|
rs886058330
|
|
NM_003242.6(TGFBR2):c.*312AT[11]
|
rs4016180
|
|
NM_003242.6(TGFBR2):c.*330_*331del
|
rs561991238
|
|
NM_003242.6(TGFBR2):c.*598G>T
|
rs886058311
|
|
NM_003242.6(TGFBR2):c.*704A>G
|
rs886058312
|
|
NM_003242.6(TGFBR2):c.*713G>T
|
rs886058313
|
|
NM_003242.6(TGFBR2):c.*793G>T
|
rs886058314
|
|
NM_003242.6(TGFBR2):c.*997T>A
|
rs886058317
|
|
NM_003242.6(TGFBR2):c.-13A>C
|
rs1697931973
|
|
NM_003242.6(TGFBR2):c.-15G>C
|
|
|
NM_003242.6(TGFBR2):c.-228C>A
|
rs886058300
|
|
NM_003242.6(TGFBR2):c.-249T>G
|
rs886058299
|
|
NM_003242.6(TGFBR2):c.-5C>T
|
|
|
NM_003242.6(TGFBR2):c.-9G>T
|
rs1406962229
|
|
NM_003242.6(TGFBR2):c.1007A>T (p.Tyr336Phe)
|
rs1699354286
|
|
NM_003242.6(TGFBR2):c.1013C>A (p.Thr338Lys)
|
|
|
NM_003242.6(TGFBR2):c.1016G>C (p.Arg339Pro)
|
rs727503473
|
|
NM_003242.6(TGFBR2):c.1016G>T (p.Arg339Leu)
|
rs727503473
|
|
NM_003242.6(TGFBR2):c.1039del (p.Leu347fs)
|
rs1699355189
|
|
NM_003242.6(TGFBR2):c.103G>A (p.Asp35Asn)
|
rs984098699
|
|
NM_003242.6(TGFBR2):c.103G>C (p.Asp35His)
|
rs984098699
|
|
NM_003242.6(TGFBR2):c.1040T>A (p.Leu347Gln)
|
|
|
NM_003242.6(TGFBR2):c.1047G>C (p.Lys349Asn)
|
rs2125435790
|
|
NM_003242.6(TGFBR2):c.1056C>G (p.Ser352Arg)
|
|
|
NM_003242.6(TGFBR2):c.1064C>T (p.Ala355Val)
|
|
|
NM_003242.6(TGFBR2):c.1066C>T (p.Arg356Trp)
|
rs199660234
|
|
NM_003242.6(TGFBR2):c.1078C>T (p.His360Tyr)
|
rs189119533
|
|
NM_003242.6(TGFBR2):c.1096A>G (p.Thr366Ala)
|
rs777332888
|
|
NM_003242.6(TGFBR2):c.109A>C (p.Ile37Leu)
|
|
|
NM_003242.6(TGFBR2):c.109A>G (p.Ile37Val)
|
|
|
NM_003242.6(TGFBR2):c.1100C>T (p.Pro367Leu)
|
rs1226482581
|
|
NM_003242.6(TGFBR2):c.1102T>A (p.Cys368Ser)
|
|
|
NM_003242.6(TGFBR2):c.1110G>C (p.Arg370Ser)
|
|
|
NM_003242.6(TGFBR2):c.1115A>G (p.Lys372Arg)
|
|
|
NM_003242.6(TGFBR2):c.1117A>G (p.Met373Val)
|
|
|
NM_003242.6(TGFBR2):c.1118T>A (p.Met373Lys)
|
rs1699357750
|
|
NM_003242.6(TGFBR2):c.1120C>T (p.Pro374Ser)
|
rs863223843
|
|
NM_003242.6(TGFBR2):c.1121C>T (p.Pro374Leu)
|
rs1057524399
|
|
NM_003242.6(TGFBR2):c.1123A>G (p.Ile375Val)
|
|
|
NM_003242.6(TGFBR2):c.1126G>A (p.Val376Met)
|
rs755967723
|
|
NM_003242.6(TGFBR2):c.1126G>C (p.Val376Leu)
|
rs755967723
|
|
NM_003242.6(TGFBR2):c.1129del (p.His377fs)
|
|
|
NM_003242.6(TGFBR2):c.1135_1140del (p.Asp379_Leu380del)
|
rs1553630282
|
|
NM_003242.6(TGFBR2):c.1142A>G (p.Lys381Arg)
|
rs1699358560
|
|
NM_003242.6(TGFBR2):c.1143G>C (p.Lys381Asn)
|
|
|
NM_003242.6(TGFBR2):c.1147T>A (p.Ser383Thr)
|
|
|
NM_003242.6(TGFBR2):c.1148C>A (p.Ser383Tyr)
|
|
|
NM_003242.6(TGFBR2):c.1151A>G (p.Asn384Ser)
|
rs193922660
|
|
NM_003242.6(TGFBR2):c.1155C>G (p.Ile385Met)
|
rs1400565122
|
|
NM_003242.6(TGFBR2):c.1156C>T (p.Leu386Phe)
|
rs1575158103
|
|
NM_003242.6(TGFBR2):c.1159G>A (p.Val387Met)
|
rs35766612
|
|
NM_003242.6(TGFBR2):c.1159G>T (p.Val387Leu)
|
rs35766612
|
|
NM_003242.6(TGFBR2):c.1163A>G (p.Lys388Arg)
|
rs193922662
|
|
NM_003242.6(TGFBR2):c.1166A>G (p.Asn389Ser)
|
rs1049576348
|
|
NM_003242.6(TGFBR2):c.1167C>G (p.Asn389Lys)
|
|
|
NM_003242.6(TGFBR2):c.1168G>A (p.Asp390Asn)
|
rs2125436704
|
|
NM_003242.6(TGFBR2):c.1172T>C (p.Leu391Pro)
|
|
|
NM_003242.6(TGFBR2):c.1189G>T (p.Asp397Tyr)
|
rs863223845
|
|
NM_003242.6(TGFBR2):c.1191C>G (p.Asp397Glu)
|
|
|
NM_003242.6(TGFBR2):c.1192T>C (p.Phe398Leu)
|
rs2125436831
|
|
NM_003242.6(TGFBR2):c.1193T>C (p.Phe398Ser)
|
rs1699359959
|
|
NM_003242.6(TGFBR2):c.1193T>G (p.Phe398Cys)
|
rs1699359959
|
|
NM_003242.6(TGFBR2):c.1194T>G (p.Phe398Leu)
|
|
|
NM_003242.6(TGFBR2):c.1202C>G (p.Ser401Cys)
|
|
|
NM_003242.6(TGFBR2):c.1202C>T (p.Ser401Phe)
|
rs1575158141
|
|
NM_003242.6(TGFBR2):c.1213G>A (p.Asp405Asn)
|
rs1699360600
|
|
NM_003242.6(TGFBR2):c.1219A>G (p.Thr407Ala)
|
rs1559467311
|
|
NM_003242.6(TGFBR2):c.1225T>C (p.Ser409Pro)
|
rs1699361055
|
|
NM_003242.6(TGFBR2):c.1226C>T (p.Ser409Phe)
|
rs1699361098
|
|
NM_003242.6(TGFBR2):c.1226_1229del (p.Ser409fs)
|
rs1699360883
|
|
NM_003242.6(TGFBR2):c.1228G>A (p.Val410Met)
|
|
|
NM_003242.6(TGFBR2):c.1229T>C (p.Val410Ala)
|
|
|
NM_003242.6(TGFBR2):c.1231G>A (p.Asp411Asn)
|
|
|
NM_003242.6(TGFBR2):c.1236C>A (p.Asp412Glu)
|
rs1699361148
|
|
NM_003242.6(TGFBR2):c.1238T>G (p.Leu413Arg)
|
|
|
NM_003242.6(TGFBR2):c.1240G>A (p.Ala414Thr)
|
|
|
NM_003242.6(TGFBR2):c.1246A>G (p.Ser416Gly)
|
rs1060501983
|
|
NM_003242.6(TGFBR2):c.1246A>T (p.Ser416Cys)
|
rs1060501983
|
|
NM_003242.6(TGFBR2):c.1247G>C (p.Ser416Thr)
|
|
|
NM_003242.6(TGFBR2):c.124A>G (p.Asn42Asp)
|
|
|
NM_003242.6(TGFBR2):c.1254+5G>A
|
|
|
NM_003242.6(TGFBR2):c.1264G>T (p.Ala422Ser)
|
rs2125438757
|
|
NM_003242.6(TGFBR2):c.1274T>C (p.Met425Thr)
|
rs1553630438
|
|
NM_003242.6(TGFBR2):c.1275G>A (p.Met425Ile)
|
|
|
NM_003242.6(TGFBR2):c.1275G>T (p.Met425Ile)
|
rs1699391960
|
|
NM_003242.6(TGFBR2):c.1277C>T (p.Ala426Val)
|
rs730880224
|
|
NM_003242.6(TGFBR2):c.127G>A (p.Gly43Ser)
|
|
|
NM_003242.6(TGFBR2):c.1300A>T (p.Met434Leu)
|
|
|
NM_003242.6(TGFBR2):c.1301T>C (p.Met434Thr)
|
rs1575158954
|
|
NM_003242.6(TGFBR2):c.1305T>A (p.Asn435Lys)
|
rs2125438974
|
|
NM_003242.6(TGFBR2):c.1319A>C (p.Glu440Ala)
|
rs1699393061
|
|
NM_003242.6(TGFBR2):c.131C>T (p.Ala44Val)
|
|
|
NM_003242.6(TGFBR2):c.1322C>A (p.Ser441Tyr)
|
rs1699393106
|
|
NM_003242.6(TGFBR2):c.1327A>G (p.Lys443Glu)
|
|
|
NM_003242.6(TGFBR2):c.1331A>G (p.Gln444Arg)
|
|
|
NM_003242.6(TGFBR2):c.1332G>T (p.Gln444His)
|
|
|
NM_003242.6(TGFBR2):c.1334C>A (p.Thr445Asn)
|
rs886038936
|
|
NM_003242.6(TGFBR2):c.1340T>A (p.Val447Asp)
|
rs1575158992
|
|
NM_003242.6(TGFBR2):c.1355T>C (p.Leu452Pro)
|
rs1699393884
|
|
NM_003242.6(TGFBR2):c.1360C>T (p.Leu454Phe)
|
rs2125439275
|
|
NM_003242.6(TGFBR2):c.1363T>A (p.Trp455Arg)
|
|
|
NM_003242.6(TGFBR2):c.1369A>G (p.Met457Val)
|
rs2125439320
|
|
NM_003242.6(TGFBR2):c.136A>G (p.Lys46Glu)
|
rs1553627148
|
|
NM_003242.6(TGFBR2):c.1371G>T (p.Met457Ile)
|
rs1218684641
|
|
NM_003242.6(TGFBR2):c.1373C>T (p.Thr458Ile)
|
rs1699394098
|
|
NM_003242.6(TGFBR2):c.1394G>A (p.Gly465Glu)
|
|
|
NM_003242.6(TGFBR2):c.1396+1G>A
|
rs528566980
|
|
NM_003242.6(TGFBR2):c.1396+5_1396+11del
|
rs1699394596
|
|
NM_003242.6(TGFBR2):c.1396+6T>A
|
rs1559467901
|
|
NM_003242.6(TGFBR2):c.1397-6T>C
|
rs2125451551
|
|
NM_003242.6(TGFBR2):c.1398A>G (p.Glu466=)
|
|
|
NM_003242.6(TGFBR2):c.1399G>A (p.Val467Ile)
|
|
|
NM_003242.6(TGFBR2):c.1405G>T (p.Asp469Tyr)
|
|
|
NM_003242.6(TGFBR2):c.1408T>A (p.Tyr470Asn)
|
rs863224935
|
|
NM_003242.6(TGFBR2):c.1427C>T (p.Ser476Phe)
|
|
|
NM_003242.6(TGFBR2):c.1436G>A (p.Arg479Gln)
|
rs1553631704
|
|
NM_003242.6(TGFBR2):c.1445C>A (p.Pro482His)
|
|
|
NM_003242.6(TGFBR2):c.1459A>G (p.Met487Val)
|
|
|
NM_003242.6(TGFBR2):c.145C>A (p.Gln49Lys)
|
|
|
NM_003242.6(TGFBR2):c.1463A>G (p.Lys488Arg)
|
|
|
NM_003242.6(TGFBR2):c.1469A>G (p.Asn490Ser)
|
|
|
NM_003242.6(TGFBR2):c.148C>G (p.Leu50Val)
|
rs1698701049
|
|
NM_003242.6(TGFBR2):c.1490G>A (p.Arg497Gln)
|
rs200958264
|
|
NM_003242.6(TGFBR2):c.1492C>G (p.Pro498Ala)
|
rs1553631720
|
|
NM_003242.6(TGFBR2):c.1493C>A (p.Pro498Gln)
|
|
|
NM_003242.6(TGFBR2):c.1493C>G (p.Pro498Arg)
|
rs1699661646
|
|
NM_003242.6(TGFBR2):c.1501C>T (p.Pro501Ser)
|
|
|
NM_003242.6(TGFBR2):c.1507T>C (p.Phe503Leu)
|
rs772201128
|
|
NM_003242.6(TGFBR2):c.1513C>T (p.Leu505Phe)
|
|
|
NM_003242.6(TGFBR2):c.1518C>A (p.Asn506Lys)
|
rs2125452270
|
|
NM_003242.6(TGFBR2):c.151T>C (p.Cys51Arg)
|
rs1559456531
|
|
NM_003242.6(TGFBR2):c.1524+1G>A
|
rs727503475
|
|
NM_003242.6(TGFBR2):c.1524+3A>G
|
rs1486137817
|
|
NM_003242.6(TGFBR2):c.1524+4A>G
|
|
|
NM_003242.6(TGFBR2):c.1524+7A>G
|
rs1553631728
|
|
NM_003242.6(TGFBR2):c.1525-1G>A
|
rs1699706945
|
|
NM_003242.6(TGFBR2):c.1525G>A (p.Gly509Ser)
|
rs1575166620
|
|
NM_003242.6(TGFBR2):c.1526G>A (p.Gly509Asp)
|
|
|
NM_003242.6(TGFBR2):c.1526G>T (p.Gly509Val)
|
rs863223853
|
|
NM_003242.6(TGFBR2):c.1536G>T (p.Met512Ile)
|
|
|
NM_003242.6(TGFBR2):c.1537del (p.Val513fs)
|
rs1575166637
|
|
NM_003242.6(TGFBR2):c.1549T>A (p.Leu517Met)
|
rs1559473413
|
|
NM_003242.6(TGFBR2):c.1555G>C (p.Glu519Gln)
|
|
|
NM_003242.6(TGFBR2):c.1565A>C (p.Asp522Ala)
|
rs886038768
|
|
NM_003242.6(TGFBR2):c.1570G>T (p.Asp524Tyr)
|
rs727504421
|
|
NM_003242.6(TGFBR2):c.1574C>T (p.Pro525Leu)
|
rs1699708427
|
|
NM_003242.6(TGFBR2):c.1577A>T (p.Glu526Val)
|
rs1699708566
|
|
NM_003242.6(TGFBR2):c.1589C>G (p.Thr530Arg)
|
rs1699708963
|
|
NM_003242.6(TGFBR2):c.1591G>A (p.Ala531Thr)
|
rs727503477
|
|
NM_003242.6(TGFBR2):c.1592C>T (p.Ala531Val)
|
rs2125455358
|
|
NM_003242.6(TGFBR2):c.1594C>T (p.Gln532Ter)
|
|
|
NM_003242.6(TGFBR2):c.1596G>T (p.Gln532His)
|
rs750806566
|
|
NM_003242.6(TGFBR2):c.15_25dup (p.Leu9fs)
|
rs1559443652
|
|
NM_003242.6(TGFBR2):c.1629T>A (p.His543Gln)
|
|
|
NM_003242.6(TGFBR2):c.1635C>G (p.Asp545Glu)
|
rs1178327690
|
|
NM_003242.6(TGFBR2):c.1639C>G (p.Leu547Val)
|
rs752099306
|
|
NM_003242.6(TGFBR2):c.1649G>A (p.Arg550Lys)
|
|
|
NM_003242.6(TGFBR2):c.1653_1665dup (p.Lys556fs)
|
rs767015322
|
|
NM_003242.6(TGFBR2):c.1654T>G (p.Cys552Gly)
|
|
|
NM_003242.6(TGFBR2):c.1660G>A (p.Glu554Lys)
|
rs1575166745
|
|
NM_003242.6(TGFBR2):c.1663G>A (p.Glu555Lys)
|
rs1325892805
|
|
NM_003242.6(TGFBR2):c.1671T>G (p.Ile557Met)
|
|
|
NM_003242.6(TGFBR2):c.1673C>T (p.Pro558Leu)
|
|
|
NM_003242.6(TGFBR2):c.1676_1677del (p.Glu559fs)
|
rs2125455762
|
|
NM_003242.6(TGFBR2):c.1678G>T (p.Asp560Tyr)
|
|
|
NM_003242.6(TGFBR2):c.1680C>G (p.Asp560Glu)
|
rs376815143
|
|
NM_003242.6(TGFBR2):c.1682G>A (p.Gly561Asp)
|
rs1559473531
|
|
NM_003242.6(TGFBR2):c.1696A>G (p.Thr566Ala)
|
|
|
NM_003242.6(TGFBR2):c.1697C>G (p.Thr566Ser)
|
rs979710806
|
|
NM_003242.6(TGFBR2):c.16C>T (p.Leu6Phe)
|
|
|
NM_003242.6(TGFBR2):c.172T>C (p.Phe58Leu)
|
|
|
NM_003242.6(TGFBR2):c.175T>C (p.Ser59Pro)
|
rs1559456557
|
|
NM_003242.6(TGFBR2):c.182G>A (p.Cys61Tyr)
|
rs2125404783
|
|
NM_003242.6(TGFBR2):c.188A>G (p.Asn63Ser)
|
rs1432089303
|
|
NM_003242.6(TGFBR2):c.199_203del (p.Cys67fs)
|
|
|
NM_003242.6(TGFBR2):c.1A>G (p.Met1Val)
|
rs933114782
|
|
NM_003242.6(TGFBR2):c.202A>C (p.Met68Leu)
|
rs1060501985
|
|
NM_003242.6(TGFBR2):c.202A>G (p.Met68Val)
|
|
|
NM_003242.6(TGFBR2):c.20G>A (p.Arg7Lys)
|
|
|
NM_003242.6(TGFBR2):c.215G>A (p.Ser72Asn)
|
rs764941621
|
|
NM_003242.6(TGFBR2):c.221C>A (p.Thr74Asn)
|
|
|
NM_003242.6(TGFBR2):c.221C>T (p.Thr74Ile)
|
|
|
NM_003242.6(TGFBR2):c.253G>A (p.Val85Met)
|
rs2125404915
|
|
NM_003242.6(TGFBR2):c.259G>C (p.Val87Leu)
|
|
|
NM_003242.6(TGFBR2):c.263+15_263+16insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAGCAAGCCTTTT
|
|
|
NM_003242.6(TGFBR2):c.263+5G>A
|
|
|
NM_003242.6(TGFBR2):c.263+6_263+7inv
|
|
|
NM_003242.6(TGFBR2):c.264-5T>G
|
rs1315800025
|
|
NM_003242.6(TGFBR2):c.269A>C (p.Lys90Thr)
|
|
|
NM_003242.6(TGFBR2):c.269A>G (p.Lys90Arg)
|
|
|
NM_003242.6(TGFBR2):c.272A>C (p.Asn91Thr)
|
rs1559458806
|
|
NM_003242.6(TGFBR2):c.278A>G (p.Glu93Gly)
|
rs1182342277
|
|
NM_003242.6(TGFBR2):c.283A>G (p.Ile95Val)
|
rs1242885838
|
|
NM_003242.6(TGFBR2):c.305A>G (p.His102Arg)
|
rs777472799
|
|
NM_003242.6(TGFBR2):c.310C>T (p.Pro104Ser)
|
rs193922665
|
|
NM_003242.6(TGFBR2):c.311C>G (p.Pro104Arg)
|
|
|
NM_003242.6(TGFBR2):c.314A>C (p.Lys105Thr)
|
|
|
NM_003242.6(TGFBR2):c.315G>C (p.Lys105Asn)
|
|
|
NM_003242.6(TGFBR2):c.319C>A (p.Pro107Thr)
|
rs1698856374
|
|
NM_003242.6(TGFBR2):c.31C>T (p.Pro11Ser)
|
|
|
NM_003242.6(TGFBR2):c.325C>G (p.His109Asp)
|
rs778838598
|
|
NM_003242.6(TGFBR2):c.346G>A (p.Ala116Thr)
|
rs1575146526
|
|
NM_003242.6(TGFBR2):c.347C>A (p.Ala116Asp)
|
rs779603895
|
|
NM_003242.6(TGFBR2):c.349G>T (p.Ala117Ser)
|
|
|
NM_003242.6(TGFBR2):c.358A>C (p.Lys120Gln)
|
rs2125410292
|
|
NM_003242.6(TGFBR2):c.358A>G (p.Lys120Glu)
|
rs2125410292
|
|
NM_003242.6(TGFBR2):c.364A>C (p.Ile122Leu)
|
|
|
NM_003242.6(TGFBR2):c.371A>C (p.Lys124Thr)
|
rs776374040
|
|
NM_003242.6(TGFBR2):c.371A>T (p.Lys124Met)
|
rs776374040
|
|
NM_003242.6(TGFBR2):c.374A>C (p.Glu125Ala)
|
|
|
NM_003242.6(TGFBR2):c.37C>A (p.His13Asn)
|
|
|
NM_003242.6(TGFBR2):c.383A>G (p.Lys128Arg)
|
|
|
NM_003242.6(TGFBR2):c.383del (p.Lys128fs)
|
rs79375991
|
|
NM_003242.6(TGFBR2):c.383dup (p.Pro129fs)
|
rs79375991
|
|
NM_003242.6(TGFBR2):c.385C>G (p.Pro129Ala)
|
rs770216059
|
|
NM_003242.6(TGFBR2):c.389G>T (p.Gly130Val)
|
rs1698859109
|
|
NM_003242.6(TGFBR2):c.394A>T (p.Thr132Ser)
|
|
|
NM_003242.6(TGFBR2):c.395C>T (p.Thr132Ile)
|
rs1402755105
|
|
NM_003242.6(TGFBR2):c.416G>T (p.Ser139Ile)
|
|
|
NM_003242.6(TGFBR2):c.424G>A (p.Glu142Lys)
|
|
|
NM_003242.6(TGFBR2):c.425A>C (p.Glu142Ala)
|
|
|
NM_003242.6(TGFBR2):c.42C>G (p.Ile14Met)
|
rs1697933283
|
|
NM_003242.6(TGFBR2):c.43G>A (p.Val15Ile)
|
rs1182907194
|
|
NM_003242.6(TGFBR2):c.454+3G>A
|
rs2125410813
|
|
NM_003242.6(TGFBR2):c.454+8_454+9del
|
rs1489925744
|
|
NM_003242.6(TGFBR2):c.454G>A (p.Glu152Lys)
|
rs778675253
|
|
NM_003242.6(TGFBR2):c.455-2del
|
rs863223855
|
|
NM_003242.6(TGFBR2):c.455-3C>T
|
|
|
NM_003242.6(TGFBR2):c.460A>G (p.Asn154Asp)
|
|
|
NM_003242.6(TGFBR2):c.462C>G (p.Asn154Lys)
|
rs1699338437
|
|
NM_003242.6(TGFBR2):c.467G>T (p.Ser156Ile)
|
rs1699338540
|
|
NM_003242.6(TGFBR2):c.468C>G (p.Ser156Arg)
|
|
|
NM_003242.6(TGFBR2):c.472C>T (p.Pro158Ser)
|
rs886058303
|
|
NM_003242.6(TGFBR2):c.476_483del (p.Asp159fs)
|
rs1699338750
|
|
NM_003242.6(TGFBR2):c.484C>A (p.Leu162Ile)
|
|
|
NM_003242.6(TGFBR2):c.491T>C (p.Ile164Thr)
|
|
|
NM_003242.6(TGFBR2):c.497A>G (p.Gln166Arg)
|
rs770804409
|
|
NM_003242.6(TGFBR2):c.498A>G (p.Gln166=)
|
rs1699339065
|
|
NM_003242.6(TGFBR2):c.4G>A (p.Gly2Ser)
|
|
|
NM_003242.6(TGFBR2):c.500T>C (p.Val167Ala)
|
rs779052721
|
|
NM_003242.6(TGFBR2):c.506G>T (p.Gly169Val)
|
rs1699339733
|
|
NM_003242.6(TGFBR2):c.509T>G (p.Ile170Ser)
|
|
|
NM_003242.6(TGFBR2):c.533T>A (p.Val178Asp)
|
rs1553630079
|
|
NM_003242.6(TGFBR2):c.533T>G (p.Val178Gly)
|
|
|
NM_003242.6(TGFBR2):c.535G>A (p.Ala179Thr)
|
|
|
NM_003242.6(TGFBR2):c.536C>T (p.Ala179Val)
|
|
|
NM_003242.6(TGFBR2):c.538A>G (p.Ile180Val)
|
rs1699340728
|
|
NM_003242.6(TGFBR2):c.53C>T (p.Thr18Met)
|
|
|
NM_003242.6(TGFBR2):c.547A>G (p.Ile183Val)
|
|
|
NM_003242.6(TGFBR2):c.550A>C (p.Ile184Leu)
|
rs1371905176
|
|
NM_003242.6(TGFBR2):c.550A>G (p.Ile184Val)
|
rs1371905176
|
|
NM_003242.6(TGFBR2):c.560_562del (p.Tyr187del)
|
|
|
NM_003242.6(TGFBR2):c.561C>G (p.Tyr187Ter)
|
rs2125433517
|
|
NM_003242.6(TGFBR2):c.562T>G (p.Cys188Gly)
|
|
|
NM_003242.6(TGFBR2):c.56G>A (p.Arg19His)
|
rs763085648
|
|
NM_003242.6(TGFBR2):c.581A>T (p.Gln194Leu)
|
rs2125433612
|
|
NM_003242.6(TGFBR2):c.58A>G (p.Ile20Val)
|
rs1697933766
|
|
NM_003242.6(TGFBR2):c.593G>A (p.Ser198Asn)
|
|
|
NM_003242.6(TGFBR2):c.604G>A (p.Glu202Lys)
|
rs1699342734
|
|
NM_003242.6(TGFBR2):c.613A>G (p.Lys205Glu)
|
|
|
NM_003242.6(TGFBR2):c.61G>T (p.Ala21Ser)
|
|
|
NM_003242.6(TGFBR2):c.620G>C (p.Arg207Pro)
|
rs371209879
|
|
NM_003242.6(TGFBR2):c.620G>T (p.Arg207Leu)
|
|
|
NM_003242.6(TGFBR2):c.625C>A (p.Leu209Ile)
|
|
|
NM_003242.6(TGFBR2):c.625C>T (p.Leu209Phe)
|
rs1288771489
|
|
NM_003242.6(TGFBR2):c.630G>A (p.Met210Ile)
|
rs1699343672
|
|
NM_003242.6(TGFBR2):c.634T>C (p.Phe212Leu)
|
rs1699343778
|
|
NM_003242.6(TGFBR2):c.645C>G (p.His215Gln)
|
rs758827786
|
|
NM_003242.6(TGFBR2):c.647G>A (p.Cys216Tyr)
|
rs1699344317
|
|
NM_003242.6(TGFBR2):c.656T>A (p.Ile219Asn)
|
rs2125433876
|
|
NM_003242.6(TGFBR2):c.659T>C (p.Leu220Pro)
|
rs1553630112
|
|
NM_003242.6(TGFBR2):c.671G>T (p.Arg224Leu)
|
|
|
NM_003242.6(TGFBR2):c.673T>C (p.Ser225Pro)
|
rs1575157609
|
|
NM_003242.6(TGFBR2):c.683G>T (p.Ser228Ile)
|
rs1559466786
|
|
NM_003242.6(TGFBR2):c.686C>T (p.Ser229Phe)
|
|
|
NM_003242.6(TGFBR2):c.68C>G (p.Thr23Arg)
|
|
|
NM_003242.6(TGFBR2):c.701A>T (p.Asn234Ile)
|
rs863223840
|
|
NM_003242.6(TGFBR2):c.70A>T (p.Ile24Phe)
|
rs1697934054
|
|
NM_003242.6(TGFBR2):c.735G>C (p.Glu245Asp)
|
|
|
NM_003242.6(TGFBR2):c.736C>T (p.Leu246=)
|
rs886058305
|
|
NM_003242.6(TGFBR2):c.757G>A (p.Gly253Ser)
|
rs1559466824
|
|
NM_003242.6(TGFBR2):c.758G>T (p.Gly253Val)
|
rs1699346690
|
|
NM_003242.6(TGFBR2):c.760C>T (p.Arg254Cys)
|
rs863223856
|
|
NM_003242.6(TGFBR2):c.766G>C (p.Ala256Pro)
|
|
|
NM_003242.6(TGFBR2):c.770A>G (p.Glu257Gly)
|
rs2125434288
|
|
NM_003242.6(TGFBR2):c.77C>T (p.Pro26Leu)
|
|
|
NM_003242.6(TGFBR2):c.78_79delinsAA (p.His27Asn)
|
rs2125438820
|
|
NM_003242.6(TGFBR2):c.791A>G (p.Lys264Arg)
|
rs868549326
|
|
NM_003242.6(TGFBR2):c.793C>G (p.Gln265Glu)
|
|
|
NM_003242.6(TGFBR2):c.795G>C (p.Gln265His)
|
|
|
NM_003242.6(TGFBR2):c.795G>T (p.Gln265His)
|
rs1412125264
|
|
NM_003242.6(TGFBR2):c.797A>G (p.Asn266Ser)
|
rs753184709
|
|
NM_003242.6(TGFBR2):c.805G>T (p.Glu269Ter)
|
rs1699347759
|
|
NM_003242.6(TGFBR2):c.807G>T (p.Glu269Asp)
|
|
|
NM_003242.6(TGFBR2):c.809A>G (p.Gln270Arg)
|
rs1699347991
|
|
NM_003242.6(TGFBR2):c.826G>T (p.Val276Phe)
|
rs1699348482
|
|
NM_003242.6(TGFBR2):c.832A>T (p.Ile278Phe)
|
rs1559466871
|
|
NM_003242.6(TGFBR2):c.835T>C (p.Phe279Leu)
|
rs746824357
|
|
NM_003242.6(TGFBR2):c.838C>G (p.Pro280Ala)
|
|
|
NM_003242.6(TGFBR2):c.840C>G (p.Pro280=)
|
rs1699349102
|
|
NM_003242.6(TGFBR2):c.842A>T (p.Tyr281Phe)
|
rs1210616464
|
|
NM_003242.6(TGFBR2):c.859dup (p.Trp287fs)
|
|
|
NM_003242.6(TGFBR2):c.869A>G (p.Glu290Gly)
|
rs1575157782
|
|
NM_003242.6(TGFBR2):c.871_873del (p.Lys291del)
|
rs1699349663
|
|
NM_003242.6(TGFBR2):c.874G>A (p.Asp292Asn)
|
rs1254102909
|
|
NM_003242.6(TGFBR2):c.877A>T (p.Ile293Phe)
|
|
|
NM_003242.6(TGFBR2):c.878TCT[1] (p.Phe294del)
|
|
|
NM_003242.6(TGFBR2):c.87G>T (p.Gln29His)
|
|
|
NM_003242.6(TGFBR2):c.884C>T (p.Ser295Leu)
|
|
|
NM_003242.6(TGFBR2):c.889A>G (p.Ile297Val)
|
|
|
NM_003242.6(TGFBR2):c.893A>C (p.Asn298Thr)
|
|
|
NM_003242.6(TGFBR2):c.8G>A (p.Arg3Gln)
|
rs780267559
|
|
NM_003242.6(TGFBR2):c.900G>T (p.Lys300Asn)
|
rs2125434971
|
|
NM_003242.6(TGFBR2):c.901C>T (p.His301Tyr)
|
|
|
NM_003242.6(TGFBR2):c.904G>A (p.Glu302Lys)
|
|
|
NM_003242.6(TGFBR2):c.907A>C (p.Asn303His)
|
rs773932892
|
|
NM_003242.6(TGFBR2):c.914T>G (p.Leu305Arg)
|
rs1553630174
|
|
NM_003242.6(TGFBR2):c.926C>T (p.Thr309Met)
|
|
|
NM_003242.6(TGFBR2):c.928G>A (p.Ala310Thr)
|
rs1553630181
|
|
NM_003242.6(TGFBR2):c.937C>G (p.Arg313Gly)
|
|
|
NM_003242.6(TGFBR2):c.938G>C (p.Arg313Pro)
|
|
|
NM_003242.6(TGFBR2):c.938G>T (p.Arg313Leu)
|
rs200361387
|
|
NM_003242.6(TGFBR2):c.94G>T (p.Val32Phe)
|
rs2125438854
|
|
NM_003242.6(TGFBR2):c.95-3C>G
|
rs375330013
|
|
NM_003242.6(TGFBR2):c.95-5_95-3del
|
|
|
NM_003242.6(TGFBR2):c.956A>G (p.Lys319Arg)
|
|
|
NM_003242.6(TGFBR2):c.960A>C (p.Gln320His)
|
|
|
NM_003242.6(TGFBR2):c.964T>C (p.Trp322Arg)
|
|
|
NM_003242.6(TGFBR2):c.967C>G (p.Leu323Val)
|
rs781018006
|
|
NM_003242.6(TGFBR2):c.968T>G (p.Leu323Arg)
|
rs1699353079
|
|
NM_003242.6(TGFBR2):c.976G>A (p.Ala326Thr)
|
|
|
NM_003242.6(TGFBR2):c.986C>T (p.Ala329Val)
|
|
|
NM_003242.6(TGFBR2):c.98A>C (p.Asn33Thr)
|
rs2125404654
|
|
NM_003242.6(TGFBR2):c.98A>G (p.Asn33Ser)
|
rs2125404654
|
|
NM_003242.6(TGFBR2):c.997C>G (p.Leu333Val)
|
rs1699353812
|
|
NM_004612.4(TGFBR1):c.*1223A>G
|
rs886063229
|
|
NM_004612.4(TGFBR1):c.*1250G>T
|
rs886063230
|
|
NM_004612.4(TGFBR1):c.*1269T>G
|
rs189032587
|
|
NM_004612.4(TGFBR1):c.*1368C>A
|
rs886063231
|
|
NM_004612.4(TGFBR1):c.*1431G>T
|
rs886063232
|
|
NM_004612.4(TGFBR1):c.*1687A>G
|
rs886063233
|
|
NM_004612.4(TGFBR1):c.*1704G>T
|
rs886063234
|
|
NM_004612.4(TGFBR1):c.*1787T>C
|
rs886063235
|
|
NM_004612.4(TGFBR1):c.*1924G>T
|
rs886063236
|
|
NM_004612.4(TGFBR1):c.*2101_*2102insGT
|
rs886063239
|
|
NM_004612.4(TGFBR1):c.*2104_*2105insGT
|
rs1554703244
|
|
NM_004612.4(TGFBR1):c.*2105dup
|
rs200529894
|
|
NM_004612.4(TGFBR1):c.*2106G>T
|
rs201054018
|
|
NM_004612.4(TGFBR1):c.*2106GTT[2]
|
rs886063241
|
|
NM_004612.4(TGFBR1):c.*2279T>C
|
rs886063242
|
|
NM_004612.4(TGFBR1):c.*2547A>G
|
rs886063243
|
|
NM_004612.4(TGFBR1):c.*2634TCT[1]
|
rs886063244
|
|
NM_004612.4(TGFBR1):c.*2713G>T
|
rs886063245
|
|
NM_004612.4(TGFBR1):c.*2768T>A
|
rs886063246
|
|
NM_004612.4(TGFBR1):c.*2980G>T
|
rs886063248
|
|
NM_004612.4(TGFBR1):c.*309C>T
|
rs886063226
|
|
NM_004612.4(TGFBR1):c.*3317C>G
|
rs201113438
|
|
NM_004612.4(TGFBR1):c.*3432G>T
|
rs886063251
|
|
NM_004612.4(TGFBR1):c.*3567G>A
|
rs886063252
|
|
NM_004612.4(TGFBR1):c.*3716T>C
|
rs886063253
|
|
NM_004612.4(TGFBR1):c.*3881G>T
|
rs886063254
|
|
NM_004612.4(TGFBR1):c.*4055G>T
|
rs886063255
|
|
NM_004612.4(TGFBR1):c.*4088G>T
|
rs886063256
|
|
NM_004612.4(TGFBR1):c.*4467C>A
|
rs886063257
|
|
NM_004612.4(TGFBR1):c.*4804dup
|
rs561572489
|
|
NM_004612.4(TGFBR1):c.*512_*516del
|
rs777186940
|
|
NM_004612.4(TGFBR1):c.*709C>T
|
rs886063228
|
|
NM_004612.4(TGFBR1):c.*756C>A
|
rs200926268
|
|
NM_004612.4(TGFBR1):c.-10C>G
|
rs199624653
|
|
NM_004612.4(TGFBR1):c.-12_14del (p.Met1fs)
|
rs2118161371
|
|
NM_004612.4(TGFBR1):c.-43C>A
|
rs886063219
|
|
NM_004612.4(TGFBR1):c.1009A>G (p.Lys337Glu)
|
rs113911127
|
|
NM_004612.4(TGFBR1):c.1026GAA[1] (p.Lys343del)
|
|
|
NM_004612.4(TGFBR1):c.1031A>G (p.Asn344Ser)
|
rs1827740020
|
|
NM_004612.4(TGFBR1):c.1033G>A (p.Gly345Arg)
|
rs1554701900
|
|
NM_004612.4(TGFBR1):c.1041C>G (p.Cys347Trp)
|
rs886039015
|
|
NM_004612.4(TGFBR1):c.1048G>T (p.Ala350Ser)
|
rs1827740730
|
|
NM_004612.4(TGFBR1):c.1057G>A (p.Gly353Arg)
|
|
|
NM_004612.4(TGFBR1):c.1063G>C (p.Ala355Pro)
|
|
|
NM_004612.4(TGFBR1):c.1064C>A (p.Ala355Glu)
|
|
|
NM_004612.4(TGFBR1):c.1065A>G (p.Ala355=)
|
rs758280185
|
|
NM_004612.4(TGFBR1):c.1091C>T (p.Thr364Ile)
|
rs201050937
|
|
NM_004612.4(TGFBR1):c.10G>A (p.Ala4Thr)
|
|
|
NM_004612.4(TGFBR1):c.1117G>A (p.Val373Met)
|
rs1554701926
|
|
NM_004612.4(TGFBR1):c.1131-3T>C
|
rs2118826404
|
|
NM_004612.4(TGFBR1):c.1131-8T>G
|
rs1827799094
|
|
NM_004612.4(TGFBR1):c.1133A>G (p.Tyr378Cys)
|
rs2118826506
|
|
NM_004612.4(TGFBR1):c.1135A>G (p.Met379Val)
|
rs1554702207
|
|
NM_004612.4(TGFBR1):c.1136T>C (p.Met379Thr)
|
rs886039004
|
|
NM_004612.4(TGFBR1):c.1138G>T (p.Ala380Ser)
|
rs746666082
|
|
NM_004612.4(TGFBR1):c.1138_1139delinsTT (p.Ala380Phe)
|
|
|
NM_004612.4(TGFBR1):c.1144G>A (p.Glu382Lys)
|
rs863223824
|
|
NM_004612.4(TGFBR1):c.1153G>A (p.Asp385Asn)
|
|
|
NM_004612.4(TGFBR1):c.1157A>G (p.Asp386Gly)
|
rs1827800557
|
|
NM_004612.4(TGFBR1):c.115C>T (p.His39Tyr)
|
|
|
NM_004612.4(TGFBR1):c.1165A>G (p.Asn389Asp)
|
|
|
NM_004612.4(TGFBR1):c.117C>A (p.His39Gln)
|
|
|
NM_004612.4(TGFBR1):c.1180G>A (p.Glu394Lys)
|
rs1564174278
|
|
NM_004612.4(TGFBR1):c.1183T>C (p.Ser395Pro)
|
|
|
NM_004612.4(TGFBR1):c.1193G>A (p.Arg398His)
|
|
|
NM_004612.4(TGFBR1):c.1196C>G (p.Ala399Gly)
|
rs1827802075
|
|
NM_004612.4(TGFBR1):c.11C>T (p.Ala4Val)
|
rs1331965992
|
|
NM_004612.4(TGFBR1):c.1203C>G (p.Ile401Met)
|
|
|
NM_004612.4(TGFBR1):c.1208C>G (p.Ala403Gly)
|
|
|
NM_004612.4(TGFBR1):c.1216T>A (p.Leu406Ile)
|
rs200062984
|
|
NM_004612.4(TGFBR1):c.1222T>A (p.Phe408Ile)
|
rs1827803560
|
|
NM_004612.4(TGFBR1):c.1229A>G (p.Glu410Gly)
|
rs1827803661
|
|
NM_004612.4(TGFBR1):c.1231A>G (p.Ile411Val)
|
rs1554702248
|
|
NM_004612.4(TGFBR1):c.1237C>T (p.Arg413Ter)
|
rs200595614
|
|
NM_004612.4(TGFBR1):c.1238G>A (p.Arg413Gln)
|
|
|
NM_004612.4(TGFBR1):c.1249A>G (p.Ile417Val)
|
|
|
NM_004612.4(TGFBR1):c.1250T>C (p.Ile417Thr)
|
|
|
NM_004612.4(TGFBR1):c.1256-2A>G
|
rs1827839566
|
|
NM_004612.4(TGFBR1):c.1268A>G (p.Asp423Gly)
|
rs2118839113
|
|
NM_004612.4(TGFBR1):c.1280C>G (p.Pro427Arg)
|
|
|
NM_004612.4(TGFBR1):c.1286A>G (p.Tyr429Cys)
|
rs1827840874
|
|
NM_004612.4(TGFBR1):c.1289A>T (p.Asp430Val)
|
rs2118839539
|
|
NM_004612.4(TGFBR1):c.1294G>C (p.Val432Leu)
|
rs2118839576
|
|
NM_004612.4(TGFBR1):c.1298C>T (p.Pro433Leu)
|
|
|
NM_004612.4(TGFBR1):c.1301C>T (p.Ser434Phe)
|
rs886039078
|
|
NM_004612.4(TGFBR1):c.1307C>A (p.Pro436Gln)
|
rs1131691342
|
|
NM_004612.4(TGFBR1):c.1307C>T (p.Pro436Leu)
|
rs1131691342
|
|
NM_004612.4(TGFBR1):c.1310C>T (p.Ser437Leu)
|
rs1827842067
|
|
NM_004612.4(TGFBR1):c.1321A>C (p.Met441Leu)
|
|
|
NM_004612.4(TGFBR1):c.1322T>A (p.Met441Lys)
|
rs1554702474
|
|
NM_004612.4(TGFBR1):c.1322T>G (p.Met441Arg)
|
rs1554702474
|
|
NM_004612.4(TGFBR1):c.1325G>A (p.Arg442Lys)
|
rs1827843082
|
|
NM_004612.4(TGFBR1):c.1342dup (p.Gln448fs)
|
rs1827843537
|
|
NM_004612.4(TGFBR1):c.1346A>G (p.Lys449Arg)
|
rs1564176059
|
|
NM_004612.4(TGFBR1):c.1348_1352del (p.Leu450fs)
|
|
|
NM_004612.4(TGFBR1):c.1351A>G (p.Arg451Gly)
|
rs2118840572
|
|
NM_004612.4(TGFBR1):c.1355C>G (p.Pro452Arg)
|
rs1827844675
|
|
NM_004612.4(TGFBR1):c.1355del (p.Pro452fs)
|
|
|
NM_004612.4(TGFBR1):c.1360A>G (p.Ile454Val)
|
rs1827845172
|
|
NM_004612.4(TGFBR1):c.1385A>G (p.Glu462Gly)
|
rs2118841118
|
|
NM_004612.4(TGFBR1):c.1386+6del
|
|
|
NM_004612.4(TGFBR1):c.1387-11T>G
|
|
|
NM_004612.4(TGFBR1):c.1387-4G>C
|
|
|
NM_004612.4(TGFBR1):c.1387G>A (p.Ala463Thr)
|
|
|
NM_004612.4(TGFBR1):c.13G>A (p.Val5Ile)
|
rs2118163054
|
|
NM_004612.4(TGFBR1):c.1402G>A (p.Ala468Thr)
|
|
|
NM_004612.4(TGFBR1):c.1408A>G (p.Ile470Val)
|
|
|
NM_004612.4(TGFBR1):c.1410T>G (p.Ile470Met)
|
|
|
NM_004612.4(TGFBR1):c.1415G>A (p.Arg472Lys)
|
rs1554702716
|
|
NM_004612.4(TGFBR1):c.1421G>A (p.Cys474Tyr)
|
rs1827899415
|
|
NM_004612.4(TGFBR1):c.1424G>C (p.Trp475Ser)
|
|
|
NM_004612.4(TGFBR1):c.1430C>T (p.Ala477Val)
|
rs1827900086
|
|
NM_004612.4(TGFBR1):c.1438G>A (p.Ala480Thr)
|
|
|
NM_004612.4(TGFBR1):c.1438G>C (p.Ala480Pro)
|
rs925777307
|
|
NM_004612.4(TGFBR1):c.1439_1440insT (p.Ala481fs)
|
rs1827901042
|
|
NM_004612.4(TGFBR1):c.1443T>A (p.Ala481=)
|
rs886063225
|
|
NM_004612.4(TGFBR1):c.1445G>C (p.Arg482Thr)
|
rs2118857131
|
|
NM_004612.4(TGFBR1):c.1446G>T (p.Arg482Ser)
|
rs1588598651
|
|
NM_004612.4(TGFBR1):c.1447C>T (p.Leu483Phe)
|
rs1554702734
|
|
NM_004612.4(TGFBR1):c.1448T>G (p.Leu483Arg)
|
rs2118857318
|
|
NM_004612.4(TGFBR1):c.1449dup (p.Thr484fs)
|
|
|
NM_004612.4(TGFBR1):c.1457T>G (p.Leu486Trp)
|
rs886039176
|
|
NM_004612.4(TGFBR1):c.1459C>G (p.Arg487Gly)
|
rs111426349
|
|
NM_004612.4(TGFBR1):c.1465A>G (p.Lys489Glu)
|
rs1554702748
|
|
NM_004612.4(TGFBR1):c.1466A>C (p.Lys489Thr)
|
rs863223828
|
|
NM_004612.4(TGFBR1):c.1474T>A (p.Leu492Ile)
|
rs2118858959
|
|
NM_004612.4(TGFBR1):c.1475_1477del (p.Leu492del)
|
|
|
NM_004612.4(TGFBR1):c.1478C>T (p.Ser493Leu)
|
|
|
NM_004612.4(TGFBR1):c.1483C>T (p.Leu495Phe)
|
|
|
NM_004612.4(TGFBR1):c.149C>G (p.Thr50Arg)
|
rs1588576221
|
|
NM_004612.4(TGFBR1):c.154G>C (p.Gly52Arg)
|
rs587776865
|
|
NM_004612.4(TGFBR1):c.157C>T (p.Leu53Phe)
|
rs1827123254
|
|
NM_004612.4(TGFBR1):c.162C>T (p.Cys54=)
|
|
|
NM_004612.4(TGFBR1):c.170C>G (p.Ser57Cys)
|
|
|
NM_004612.4(TGFBR1):c.176C>T (p.Thr59Ile)
|
|
|
NM_004612.4(TGFBR1):c.180G>C (p.Glu60Asp)
|
rs1171355842
|
|
NM_004612.4(TGFBR1):c.191A>G (p.Lys64Arg)
|
rs886042300
|
|
NM_004612.4(TGFBR1):c.193G>A (p.Val65Ile)
|
rs1827124531
|
|
NM_004612.4(TGFBR1):c.203A>G (p.Asn68Ser)
|
rs727503469
|
|
NM_004612.4(TGFBR1):c.239G>A (p.Arg80Gln)
|
rs1368326650
|
|
NM_004612.4(TGFBR1):c.248C>T (p.Pro83Leu)
|
rs757374917
|
|
NM_004612.4(TGFBR1):c.256T>C (p.Cys86Arg)
|
rs2118570240
|
|
NM_004612.4(TGFBR1):c.257G>A (p.Cys86Tyr)
|
rs2118570305
|
|
NM_004612.4(TGFBR1):c.281C>G (p.Ser94Cys)
|
|
|
NM_004612.4(TGFBR1):c.283G>A (p.Val95Met)
|
rs1827129569
|
|
NM_004612.4(TGFBR1):c.28C>T (p.Pro10Ser)
|
|
|
NM_004612.4(TGFBR1):c.290C>A (p.Thr97Lys)
|
rs1554698939
|
|
NM_004612.4(TGFBR1):c.2T>C (p.Met1Thr)
|
|
|
NM_004612.4(TGFBR1):c.304A>C (p.Asn102His)
|
|
|
NM_004612.4(TGFBR1):c.305A>G (p.Asn102Ser)
|
|
|
NM_004612.4(TGFBR1):c.307C>G (p.Gln103Glu)
|
rs1827131236
|
|
NM_004612.4(TGFBR1):c.320A>G (p.Asn107Ser)
|
|
|
NM_004612.4(TGFBR1):c.331C>G (p.Leu111Val)
|
rs1244225435
|
|
NM_004612.4(TGFBR1):c.331C>T (p.Leu111Phe)
|
|
|
NM_004612.4(TGFBR1):c.337A>G (p.Thr113Ala)
|
rs762573778
|
|
NM_004612.4(TGFBR1):c.341C>G (p.Thr114Ser)
|
rs1827133059
|
|
NM_004612.4(TGFBR1):c.341C>T (p.Thr114Ile)
|
rs1827133059
|
|
NM_004612.4(TGFBR1):c.342T>A (p.Thr114=)
|
rs371415976
|
|
NM_004612.4(TGFBR1):c.343+5G>C
|
rs2118576878
|
|
NM_004612.4(TGFBR1):c.344-13G>A
|
rs1300742771
|
|
NM_004612.4(TGFBR1):c.346A>G (p.Lys116Glu)
|
rs1827266142
|
|
NM_004612.4(TGFBR1):c.359G>A (p.Gly120Asp)
|
rs1827267269
|
|
NM_004612.4(TGFBR1):c.359G>T (p.Gly120Val)
|
|
|
NM_004612.4(TGFBR1):c.367C>T (p.Pro123Ser)
|
rs1554699525
|
|
NM_004612.4(TGFBR1):c.368C>T (p.Pro123Leu)
|
rs878854713
|
|
NM_004612.4(TGFBR1):c.37CTC[4] (p.Leu15_Val16insLeu)
|
|
|
NM_004612.4(TGFBR1):c.392C>G (p.Ala131Gly)
|
|
|
NM_004612.4(TGFBR1):c.398C>T (p.Pro133Leu)
|
rs1827269407
|
|
NM_004612.4(TGFBR1):c.400G>C (p.Val134Leu)
|
|
|
NM_004612.4(TGFBR1):c.403T>G (p.Cys135Gly)
|
rs1827269961
|
|
NM_004612.4(TGFBR1):c.409G>A (p.Val137Ile)
|
rs745576967
|
|
NM_004612.4(TGFBR1):c.410T>C (p.Val137Ala)
|
|
|
NM_004612.4(TGFBR1):c.419C>T (p.Ser140Leu)
|
rs1057524105
|
|
NM_004612.4(TGFBR1):c.41T>C (p.Leu14Pro)
|
rs1826371375
|
|
NM_004612.4(TGFBR1):c.424A>G (p.Met142Val)
|
rs1029455360
|
|
NM_004612.4(TGFBR1):c.424A>T (p.Met142Leu)
|
rs1029455360
|
|
NM_004612.4(TGFBR1):c.426G>A (p.Met142Ile)
|
|
|
NM_004612.4(TGFBR1):c.430A>G (p.Met144Val)
|
rs1827272468
|
|
NM_004612.4(TGFBR1):c.43C>T (p.Leu15Phe)
|
|
|
NM_004612.4(TGFBR1):c.445C>G (p.His149Asp)
|
|
|
NM_004612.4(TGFBR1):c.449A>G (p.Asn150Ser)
|
rs945370154
|
|
NM_004612.4(TGFBR1):c.460A>G (p.Ile154Val)
|
|
|
NM_004612.4(TGFBR1):c.463C>G (p.His155Asp)
|
rs751679796
|
|
NM_004612.4(TGFBR1):c.470G>A (p.Arg157Gln)
|
rs147146713
|
|
NM_004612.4(TGFBR1):c.487del (p.Asp163fs)
|
rs1827276619
|
|
NM_004612.4(TGFBR1):c.488A>G (p.Asp163Gly)
|
rs2118629610
|
|
NM_004612.4(TGFBR1):c.490C>T (p.Pro164Ser)
|
rs886063222
|
|
NM_004612.4(TGFBR1):c.500A>C (p.Asp167Ala)
|
rs1060502044
|
|
NM_004612.4(TGFBR1):c.503G>T (p.Arg168Leu)
|
rs777965779
|
|
NM_004612.4(TGFBR1):c.505C>G (p.Pro169Ala)
|
rs1827278155
|
|
NM_004612.4(TGFBR1):c.52GCG[11] (p.Ala25_Ala26dup)
|
rs11466445
|
|
NM_004612.4(TGFBR1):c.52GCG[12] (p.Ala24_Ala26dup)
|
rs11466445
|
|
NM_004612.4(TGFBR1):c.52GCG[13] (p.Ala23_Ala26dup)
|
rs11466445
|
|
NM_004612.4(TGFBR1):c.52GCG[14] (p.Ala22_Ala26dup)
|
rs11466445
|
|
NM_004612.4(TGFBR1):c.52GCG[3] (p.Ala21_Ala26del)
|
rs11466445
|
|
NM_004612.4(TGFBR1):c.52GCG[4] (p.Ala22_Ala26del)
|
rs11466445
|
|
NM_004612.4(TGFBR1):c.52GCG[5] (p.Ala23_Ala26del)
|
rs11466445
|
|
NM_004612.4(TGFBR1):c.563G>T (p.Gly188Val)
|
rs1554699638
|
|
NM_004612.4(TGFBR1):c.569G>A (p.Gly190Asp)
|
rs2118632040
|
|
NM_004612.4(TGFBR1):c.572C>T (p.Ser191Leu)
|
|
|
NM_004612.4(TGFBR1):c.574+6A>G
|
|
|
NM_004612.4(TGFBR1):c.574+7_574+8del
|
|
|
NM_004612.4(TGFBR1):c.575G>T (p.Gly192Val)
|
|
|
NM_004612.4(TGFBR1):c.580C>T (p.Pro194Ser)
|
|
|
NM_004612.4(TGFBR1):c.581C>T (p.Pro194Leu)
|
|
|
NM_004612.4(TGFBR1):c.586C>T (p.Leu196Phe)
|
rs863223807
|
|
NM_004612.4(TGFBR1):c.587T>G (p.Leu196Arg)
|
rs886038998
|
|
NM_004612.4(TGFBR1):c.596G>A (p.Arg199Lys)
|
rs397517032
|
|
NM_004612.4(TGFBR1):c.59C>T (p.Ala20Val)
|
rs1333080544
|
|
NM_004612.4(TGFBR1):c.601A>G (p.Ile201Val)
|
rs781042616
|
|
NM_004612.4(TGFBR1):c.602T>C (p.Ile201Thr)
|
|
|
NM_004612.4(TGFBR1):c.604G>A (p.Ala202Thr)
|
|
|
NM_004612.4(TGFBR1):c.611C>T (p.Thr204Ile)
|
rs886039068
|
|
NM_004612.4(TGFBR1):c.615T>G (p.Ile205Met)
|
|
|
NM_004612.4(TGFBR1):c.617T>C (p.Val206Ala)
|
rs1827484742
|
|
NM_004612.4(TGFBR1):c.623A>C (p.Gln208Pro)
|
rs1588585291
|
|
NM_004612.4(TGFBR1):c.623A>T (p.Gln208Leu)
|
rs1588585291
|
|
NM_004612.4(TGFBR1):c.634G>A (p.Gly212Ser)
|
|
|
NM_004612.4(TGFBR1):c.635G>T (p.Gly212Val)
|
|
|
NM_004612.4(TGFBR1):c.638A>T (p.Lys213Ile)
|
|
|
NM_004612.4(TGFBR1):c.644G>A (p.Arg215Gln)
|
rs2118711787
|
|
NM_004612.4(TGFBR1):c.650G>T (p.Gly217Val)
|
|
|
NM_004612.4(TGFBR1):c.655G>T (p.Val219Phe)
|
rs863223810
|
|
NM_004612.4(TGFBR1):c.656T>G (p.Val219Gly)
|
|
|
NM_004612.4(TGFBR1):c.658T>G (p.Trp220Gly)
|
|
|
NM_004612.4(TGFBR1):c.665G>A (p.Gly222Glu)
|
|
|
NM_004612.4(TGFBR1):c.673C>T (p.Arg225Trp)
|
rs1564161544
|
|
NM_004612.4(TGFBR1):c.674G>A (p.Arg225Gln)
|
|
|
NM_004612.4(TGFBR1):c.676G>A (p.Gly226Arg)
|
rs1827486970
|
|
NM_004612.4(TGFBR1):c.679G>A (p.Glu227Lys)
|
rs1060502042
|
|
NM_004612.4(TGFBR1):c.685G>C (p.Val229Leu)
|
|
|
NM_004612.4(TGFBR1):c.691G>A (p.Val231Ile)
|
|
|
NM_004612.4(TGFBR1):c.691G>C (p.Val231Leu)
|
|
|
NM_004612.4(TGFBR1):c.702CTC[1] (p.Ser236del)
|
rs863223830
|
|
NM_004612.4(TGFBR1):c.704C>T (p.Ser235Phe)
|
rs1554700632
|
|
NM_004612.4(TGFBR1):c.706T>C (p.Ser236Pro)
|
|
|
NM_004612.4(TGFBR1):c.707C>T (p.Ser236Phe)
|
rs863223812
|
|
NM_004612.4(TGFBR1):c.70_97+13dup
|
|
|
NM_004612.4(TGFBR1):c.710G>A (p.Arg237Lys)
|
rs1827490566
|
|
NM_004612.4(TGFBR1):c.712GAA[1] (p.Glu239del)
|
rs2118716881
|
|
NM_004612.4(TGFBR1):c.716A>G (p.Glu239Gly)
|
rs2118717180
|
|
NM_004612.4(TGFBR1):c.725G>C (p.Trp242Ser)
|
|
|
NM_004612.4(TGFBR1):c.725G>T (p.Trp242Leu)
|
rs1564161816
|
|
NM_004612.4(TGFBR1):c.730C>T (p.Arg244Cys)
|
rs2118718530
|
|
NM_004612.4(TGFBR1):c.731G>C (p.Arg244Pro)
|
rs1329974247
|
|
NM_004612.4(TGFBR1):c.73_81del (p.Ala25_Leu27del)
|
rs948905780
|
|
NM_004612.4(TGFBR1):c.742A>T (p.Ile248Phe)
|
rs2118719566
|
|
NM_004612.4(TGFBR1):c.752_806-1129del
|
|
|
NM_004612.4(TGFBR1):c.767A>G (p.His256Arg)
|
rs1554700666
|
|
NM_004612.4(TGFBR1):c.775A>G (p.Ile259Val)
|
|
|
NM_004612.4(TGFBR1):c.778C>A (p.Leu260Met)
|
|
|
NM_004612.4(TGFBR1):c.779T>C (p.Leu260Pro)
|
rs397517033
|
|
NM_004612.4(TGFBR1):c.782G>A (p.Gly261Glu)
|
rs2118722783
|
|
NM_004612.4(TGFBR1):c.787A>G (p.Ile263Val)
|
rs1827496536
|
|
NM_004612.4(TGFBR1):c.790G>A (p.Ala264Thr)
|
|
|
NM_004612.4(TGFBR1):c.791C>T (p.Ala264Val)
|
|
|
NM_004612.4(TGFBR1):c.796G>A (p.Asp266Asn)
|
rs1060502043
|
|
NM_004612.4(TGFBR1):c.797A>T (p.Asp266Val)
|
|
|
NM_004612.4(TGFBR1):c.799A>G (p.Asn267Asp)
|
rs727503471
|
|
NM_004612.4(TGFBR1):c.7G>A (p.Ala3Thr)
|
|
|
NM_004612.4(TGFBR1):c.805+5G>A
|
rs1827498156
|
|
NM_004612.4(TGFBR1):c.805+5del
|
rs1300823570
|
|
NM_004612.4(TGFBR1):c.805+7_805+17del
|
rs1827498513
|
|
NM_004612.4(TGFBR1):c.805G>A (p.Asp269Asn)
|
rs1564162124
|
|
NM_004612.4(TGFBR1):c.806-14A>G
|
|
|
NM_004612.4(TGFBR1):c.806A>G (p.Asp269Gly)
|
|
|
NM_004612.4(TGFBR1):c.809A>G (p.Asn270Ser)
|
rs201475375
|
|
NM_004612.4(TGFBR1):c.80_85del (p.Leu27_Leu28del)
|
rs2118166265
|
|
NM_004612.4(TGFBR1):c.814A>C (p.Thr272Pro)
|
rs2118776532
|
|
NM_004612.4(TGFBR1):c.820A>C (p.Thr274Pro)
|
rs863223816
|
|
NM_004612.4(TGFBR1):c.824A>G (p.Gln275Arg)
|
rs863223817
|
|
NM_004612.4(TGFBR1):c.828C>G (p.Leu276=)
|
rs886063224
|
|
NM_004612.4(TGFBR1):c.831_841del (p.Trp277_Asp281delinsTer)
|
rs1827647231
|
|
NM_004612.4(TGFBR1):c.835G>C (p.Val279Leu)
|
rs112300506
|
|
NM_004612.4(TGFBR1):c.842A>C (p.Asp281Ala)
|
rs1827647938
|
|
NM_004612.4(TGFBR1):c.843_851del (p.Asp281_His283del)
|
|
|
NM_004612.4(TGFBR1):c.847C>T (p.His283Tyr)
|
|
|
NM_004612.4(TGFBR1):c.847_849del (p.His283del)
|
rs1588590301
|
|
NM_004612.4(TGFBR1):c.852G>A (p.Glu284=)
|
|
|
NM_004612.4(TGFBR1):c.854A>G (p.His285Arg)
|
rs1588590331
|
|
NM_004612.4(TGFBR1):c.854A>T (p.His285Leu)
|
rs1588590331
|
|
NM_004612.4(TGFBR1):c.85C>T (p.Pro29Ser)
|
|
|
NM_004612.4(TGFBR1):c.860C>T (p.Ser287Phe)
|
rs863223832
|
|
NM_004612.4(TGFBR1):c.862C>G (p.Leu288Val)
|
|
|
NM_004612.4(TGFBR1):c.868G>T (p.Asp290Tyr)
|
|
|
NM_004612.4(TGFBR1):c.882A>G (p.Arg294=)
|
|
|
NM_004612.4(TGFBR1):c.886A>G (p.Thr296Ala)
|
|
|
NM_004612.4(TGFBR1):c.887C>G (p.Thr296Arg)
|
|
|
NM_004612.4(TGFBR1):c.895G>A (p.Val299Met)
|
|
|
NM_004612.4(TGFBR1):c.895G>T (p.Val299Leu)
|
rs199822546
|
|
NM_004612.4(TGFBR1):c.896T>C (p.Val299Ala)
|
|
|
NM_004612.4(TGFBR1):c.899A>G (p.Glu300Gly)
|
rs2118779242
|
|
NM_004612.4(TGFBR1):c.907A>T (p.Ile303Leu)
|
|
|
NM_004612.4(TGFBR1):c.916G>C (p.Ala306Pro)
|
|
|
NM_004612.4(TGFBR1):c.91G>T (p.Ala31Ser)
|
|
|
NM_004612.4(TGFBR1):c.923C>T (p.Ser308Phe)
|
rs1564168346
|
|
NM_004612.4(TGFBR1):c.929C>A (p.Ala310Glu)
|
rs202010361
|
|
NM_004612.4(TGFBR1):c.935G>A (p.Gly312Asp)
|
rs869025535
|
|
NM_004612.4(TGFBR1):c.940G>T (p.Ala314Ser)
|
rs1209722877
|
|
NM_004612.4(TGFBR1):c.949C>T (p.His317Tyr)
|
|
|
NM_004612.4(TGFBR1):c.952A>G (p.Met318Val)
|
rs752190665
|
|
NM_004612.4(TGFBR1):c.952A>T (p.Met318Leu)
|
rs752190665
|
|
NM_004612.4(TGFBR1):c.953T>C (p.Met318Thr)
|
|
|
NM_004612.4(TGFBR1):c.958A>T (p.Ile320Phe)
|
rs760419678
|
|
NM_004612.4(TGFBR1):c.959T>A (p.Ile320Asn)
|
rs1554701491
|
|
NM_004612.4(TGFBR1):c.959T>C (p.Ile320Thr)
|
rs1554701491
|
|
NM_004612.4(TGFBR1):c.961G>T (p.Val321Phe)
|
rs1827655038
|
|
NM_004612.4(TGFBR1):c.962T>G (p.Val321Gly)
|
|
|
NM_004612.4(TGFBR1):c.965G>A (p.Gly322Asp)
|
rs863223833
|
|
NM_004612.4(TGFBR1):c.97+15GGCG[4]
|
rs886063221
|
|
NM_004612.4(TGFBR1):c.97+2_97+35dup
|
|
|
NM_004612.4(TGFBR1):c.97+3G>A
|
|
|
NM_004612.4(TGFBR1):c.97+6C>T
|
|
|
NM_004612.4(TGFBR1):c.974-3del
|
rs1443971886
|
|
NM_004612.4(TGFBR1):c.98-4C>A
|
rs1554698879
|
|
NM_004612.4(TGFBR1):c.98C>G (p.Ala33Gly)
|
rs1554698880
|
|
NM_004612.4(TGFBR1):c.98C>T (p.Ala33Val)
|
rs1554698880
|
|
NM_004612.4(TGFBR1):c.992A>C (p.His331Pro)
|
|
|
NM_004612.4(TGFBR1):c.992A>T (p.His331Leu)
|
rs1827738279
|
|
NM_004612.4(TGFBR1):c.994_999del (p.Arg332_Asp333del)
|
rs727504383
|
|
NM_005120.3(MED12):c.1053G>T (p.Met351Ile)
|
rs2147780368
|
|
NM_005120.3(MED12):c.1157G>A (p.Ser386Asn)
|
|
|
NM_005120.3(MED12):c.137A>C (p.Asn46Thr)
|
|
|
NM_005120.3(MED12):c.1504G>A (p.Ala502Thr)
|
|
|
NM_005120.3(MED12):c.1565C>G (p.Ala522Gly)
|
rs1289442309
|
|
NM_005120.3(MED12):c.1660G>A (p.Ala554Thr)
|
rs863223709
|
|
NM_005120.3(MED12):c.184G>A (p.Val62Ile)
|
rs1039763693
|
|
NM_005120.3(MED12):c.1970T>C (p.Leu657Pro)
|
rs2147790051
|
|
NM_005120.3(MED12):c.1984C>T (p.Leu662Phe)
|
|
|
NM_005120.3(MED12):c.2300C>T (p.Ala767Val)
|
|
|
NM_005120.3(MED12):c.2363C>G (p.Ala788Gly)
|
|
|
NM_005120.3(MED12):c.2384C>T (p.Pro795Leu)
|
rs2092301217
|
|
NM_005120.3(MED12):c.2570C>T (p.Thr857Met)
|
|
|
NM_005120.3(MED12):c.2643A>C (p.Glu881Asp)
|
|
|
NM_005120.3(MED12):c.2863G>C (p.Val955Leu)
|
|
|
NM_005120.3(MED12):c.2867A>G (p.Lys956Arg)
|
rs1569481527
|
|
NM_005120.3(MED12):c.2905C>T (p.Arg969Cys)
|
|
|
NM_005120.3(MED12):c.2990G>A (p.Cys997Tyr)
|
rs1556336381
|
|
NM_005120.3(MED12):c.3022G>A (p.Val1008Met)
|
|
|
NM_005120.3(MED12):c.3067A>G (p.Ile1023Val)
|
rs879255526
|
|
NM_005120.3(MED12):c.3223G>T (p.Ala1075Ser)
|
|
|
NM_005120.3(MED12):c.330G>C (p.Gln110His)
|
|
|
NM_005120.3(MED12):c.3385G>A (p.Ala1129Thr)
|
|
|
NM_005120.3(MED12):c.3419G>C (p.Cys1140Ser)
|
|
|
NM_005120.3(MED12):c.3443G>T (p.Arg1148Leu)
|
rs387907360
|
|
NM_005120.3(MED12):c.357C>G (p.Asp119Glu)
|
|
|
NM_005120.3(MED12):c.3661T>G (p.Phe1221Val)
|
|
|
NM_005120.3(MED12):c.3665C>G (p.Ala1222Gly)
|
|
|
NM_005120.3(MED12):c.3762AGG[1] (p.Gly1257del)
|
rs1602300077
|
|
NM_005120.3(MED12):c.3827A>G (p.Asp1276Gly)
|
|
|
NM_005120.3(MED12):c.4048-3C>T
|
|
|
NM_005120.3(MED12):c.4297G>A (p.Ala1433Thr)
|
|
|
NM_005120.3(MED12):c.4643A>G (p.Gln1548Arg)
|
|
|
NM_005120.3(MED12):c.4725C>A (p.Asn1575Lys)
|
rs1556338296
|
|
NM_005120.3(MED12):c.475C>T (p.Leu159Phe)
|
|
|
NM_005120.3(MED12):c.4832G>A (p.Arg1611His)
|
rs1569482153
|
|
NM_005120.3(MED12):c.4870T>G (p.Leu1624Val)
|
rs766406937
|
|
NM_005120.3(MED12):c.4888G>A (p.Asp1630Asn)
|
|
|
NM_005120.3(MED12):c.4997C>T (p.Ala1666Val)
|
rs2092329067
|
|
NM_005120.3(MED12):c.5204G>A (p.Arg1735His)
|
|
|
NM_005120.3(MED12):c.5252C>T (p.Pro1751Leu)
|
rs748064846
|
|
NM_005120.3(MED12):c.5260C>T (p.Pro1754Ser)
|
|
|
NM_005120.3(MED12):c.5303A>G (p.Lys1768Arg)
|
rs1295791827
|
|
NM_005120.3(MED12):c.5332A>G (p.Ser1778Gly)
|
|
|
NM_005120.3(MED12):c.5366G>T (p.Gly1789Val)
|
|
|
NM_005120.3(MED12):c.5401-3C>A
|
rs1180673067
|
|
NM_005120.3(MED12):c.5422C>T (p.Arg1808Trp)
|
rs372271659
|
|
NM_005120.3(MED12):c.5428G>A (p.Gly1810Ser)
|
|
|
NM_005120.3(MED12):c.5432C>T (p.Pro1811Leu)
|
|
|
NM_005120.3(MED12):c.5614C>T (p.Pro1872Ser)
|
|
|
NM_005120.3(MED12):c.566T>C (p.Ile189Thr)
|
|
|
NM_005120.3(MED12):c.5672C>T (p.Ser1891Phe)
|
|
|
NM_005120.3(MED12):c.5716C>G (p.Pro1906Ala)
|
|
|
NM_005120.3(MED12):c.5779G>A (p.Val1927Ile)
|
rs1556339193
|
|
NM_005120.3(MED12):c.5922G>T (p.Gln1974His)
|
rs879255528
|
|
NM_005120.3(MED12):c.5989G>T (p.Gly1997Cys)
|
rs1556339260
|
|
NM_005120.3(MED12):c.6028C>A (p.Leu2010Met)
|
|
|
NM_005120.3(MED12):c.605C>G (p.Ala202Gly)
|
|
|
NM_005120.3(MED12):c.6177_6191del (p.Gln2072_Gln2076del)
|
rs767827315
|
|
NM_005120.3(MED12):c.6265C>T (p.Arg2089Trp)
|
|
|
NM_005120.3(MED12):c.631G>A (p.Gly211Arg)
|
|
|
NM_005120.3(MED12):c.6443A>G (p.Gln2148Arg)
|
rs1569482852
|
|
NM_005120.3(MED12):c.6521T>C (p.Phe2174Ser)
|
|
|
NM_005120.3(MED12):c.656T>C (p.Ile219Thr)
|
|
|
NM_005120.3(MED12):c.679G>C (p.Glu227Gln)
|
|
|
NM_005120.3(MED12):c.938G>T (p.Ser313Ile)
|
|
|
NM_005359.5:c.-496_*1311dup
|
|
|
NM_005359.6(SMAD4):c.1131G>C (p.Glu377Asp)
|
rs1568208287
|
|
NM_005359.6(SMAD4):c.250-10A>T
|
rs1599182364
|
|
NM_005902.4(SMAD3):c.*1326A>G
|
rs886051392
|
|
NM_005902.4(SMAD3):c.*1355C>G
|
rs886051393
|
|
NM_005902.4(SMAD3):c.*1443C>A
|
rs886051394
|
|
NM_005902.4(SMAD3):c.*1493C>A
|
rs886051395
|
|
NM_005902.4(SMAD3):c.*1515C>A
|
rs886051396
|
|
NM_005902.4(SMAD3):c.*1548G>T
|
rs886051397
|
|
NM_005902.4(SMAD3):c.*1614C>A
|
rs886051399
|
|
NM_005902.4(SMAD3):c.*1641T>G
|
rs886051400
|
|
NM_005902.4(SMAD3):c.*1644T>G
|
rs886051401
|
|
NM_005902.4(SMAD3):c.*1695G>T
|
rs886051402
|
|
NM_005902.4(SMAD3):c.*1749G>T
|
rs886051403
|
|
NM_005902.4(SMAD3):c.*1767G>C
|
rs533635017
|
|
NM_005902.4(SMAD3):c.*1784G>T
|
rs886051404
|
|
NM_005902.4(SMAD3):c.*1800_*1803del
|
rs141408841
|
|
NM_005902.4(SMAD3):c.*1820G>T
|
rs886051407
|
|
NM_005902.4(SMAD3):c.*1831G>T
|
rs886051408
|
|
NM_005902.4(SMAD3):c.*1853C>A
|
rs886051409
|
|
NM_005902.4(SMAD3):c.*195G>T
|
rs886051381
|
|
NM_005902.4(SMAD3):c.*2026T>C
|
rs886051410
|
|
NM_005902.4(SMAD3):c.*2038G>T
|
rs886051411
|
|
NM_005902.4(SMAD3):c.*2245C>A
|
rs886051412
|
|
NM_005902.4(SMAD3):c.*2251C>A
|
rs886051413
|
|
NM_005902.4(SMAD3):c.*2291C>A
|
rs886051414
|
|
NM_005902.4(SMAD3):c.*2453C>A
|
rs886051416
|
|
NM_005902.4(SMAD3):c.*2573G>T
|
rs886051418
|
|
NM_005902.4(SMAD3):c.*2580C>A
|
rs886051419
|
|
NM_005902.4(SMAD3):c.*2596G>T
|
rs886051420
|
|
NM_005902.4(SMAD3):c.*2891C>A
|
rs886051421
|
|
NM_005902.4(SMAD3):c.*292G>T
|
rs886051382
|
|
NM_005902.4(SMAD3):c.*2963A>C
|
rs886051422
|
|
NM_005902.4(SMAD3):c.*3120G>T
|
rs886051423
|
|
NM_005902.4(SMAD3):c.*3147G>T
|
rs886051425
|
|
NM_005902.4(SMAD3):c.*3148T>C
|
rs886051426
|
|
NM_005902.4(SMAD3):c.*3174del
|
rs886051427
|
|
NM_005902.4(SMAD3):c.*3174dup
|
rs886051427
|
|
NM_005902.4(SMAD3):c.*3661G>A
|
rs886051430
|
|
NM_005902.4(SMAD3):c.*3738C>T
|
rs886051432
|
|
NM_005902.4(SMAD3):c.*4195G>A
|
rs886051433
|
|
NM_005902.4(SMAD3):c.*4556C>A
|
rs886051435
|
|
NM_005902.4(SMAD3):c.*4556C>T
|
rs886051435
|
|
NM_005902.4(SMAD3):c.*495C>A
|
rs886051383
|
|
NM_005902.4(SMAD3):c.*552G>T
|
rs769408016
|
|
NM_005902.4(SMAD3):c.*573G>T
|
rs886051384
|
|
NM_005902.4(SMAD3):c.*632C>A
|
rs886051386
|
|
NM_005902.4(SMAD3):c.*656C>A
|
rs886051387
|
|
NM_005902.4(SMAD3):c.*678C>A
|
rs886051388
|
|
NM_005902.4(SMAD3):c.*981C>A
|
rs886051390
|
|
NM_005902.4(SMAD3):c.-100C>T
|
rs886051379
|
|
NM_005902.4(SMAD3):c.-164A>C
|
rs886051378
|
|
NM_005902.4(SMAD3):c.-168C>A
|
rs886051377
|
|
NM_005902.4(SMAD3):c.-17_-15delinsACA
|
rs2140188640
|
|
NM_005902.4(SMAD3):c.-240G>T
|
rs886051375
|
|
NM_005902.4(SMAD3):c.-280C>A
|
rs886051372
|
|
NM_005902.4(SMAD3):c.-2C>G
|
rs1490793198
|
|
NM_005902.4(SMAD3):c.1001T>A (p.Ile334Asn)
|
|
|
NM_005902.4(SMAD3):c.1006C>G (p.Pro336Ala)
|
|
|
NM_005902.4(SMAD3):c.1009G>C (p.Gly337Arg)
|
|
|
NM_005902.4(SMAD3):c.100G>A (p.Ala34Thr)
|
rs2140188906
|
|
NM_005902.4(SMAD3):c.1019T>C (p.Leu340Pro)
|
rs2140323401
|
|
NM_005902.4(SMAD3):c.101C>A (p.Ala34Glu)
|
|
|
NM_005902.4(SMAD3):c.1029C>G (p.Phe343Leu)
|
rs2140323430
|
|
NM_005902.4(SMAD3):c.1033A>T (p.Asn345Tyr)
|
|
|
NM_005902.4(SMAD3):c.1044C>G (p.Phe348Leu)
|
|
|
NM_005902.4(SMAD3):c.1045G>A (p.Ala349Thr)
|
rs1963249175
|
|
NM_005902.4(SMAD3):c.1062G>T (p.Gln354His)
|
rs1567003470
|
|
NM_005902.4(SMAD3):c.1080T>G (p.Phe360Leu)
|
rs2140323584
|
|
NM_005902.4(SMAD3):c.1081G>A (p.Glu361Lys)
|
rs387906856
|
|
NM_005902.4(SMAD3):c.1087G>A (p.Val363Ile)
|
|
|
NM_005902.4(SMAD3):c.1088T>C (p.Val363Ala)
|
|
|
NM_005902.4(SMAD3):c.1088T>G (p.Val363Gly)
|
rs1595962693
|
|
NM_005902.4(SMAD3):c.1091A>G (p.Tyr364Cys)
|
rs886039177
|
|
NM_005902.4(SMAD3):c.1099A>C (p.Thr367Pro)
|
|
|
NM_005902.4(SMAD3):c.109A>T (p.Ser37Cys)
|
|
|
NM_005902.4(SMAD3):c.1102C>G (p.Arg368Gly)
|
rs757106110
|
|
NM_005902.4(SMAD3):c.1106T>A (p.Met369Lys)
|
rs1294653592
|
|
NM_005902.4(SMAD3):c.110G>T (p.Ser37Ile)
|
rs1555405107
|
|
NM_005902.4(SMAD3):c.110_115del (p.Ser37_Val39delinsIle)
|
rs863223769
|
|
NM_005902.4(SMAD3):c.110_121del (p.Ser37_Lys40del)
|
rs863223755
|
|
NM_005902.4(SMAD3):c.1112C>A (p.Thr371Asn)
|
rs1963251370
|
|
NM_005902.4(SMAD3):c.1117C>A (p.Arg373Ser)
|
rs863223746
|
|
NM_005902.4(SMAD3):c.1118G>T (p.Arg373Leu)
|
rs1060500766
|
|
NM_005902.4(SMAD3):c.1121T>A (p.Met374Lys)
|
rs1555414240
|
|
NM_005902.4(SMAD3):c.1124G>A (p.Ser375Asn)
|
rs1232656160
|
|
NM_005902.4(SMAD3):c.1124G>T (p.Ser375Ile)
|
|
|
NM_005902.4(SMAD3):c.1132A>G (p.Lys378Glu)
|
rs2140323743
|
|
NM_005902.4(SMAD3):c.1135G>A (p.Gly379Ser)
|
|
|
NM_005902.4(SMAD3):c.1137C>T (p.Gly379=)
|
|
|
NM_005902.4(SMAD3):c.1138T>G (p.Trp380Gly)
|
rs1963252441
|
|
NM_005902.4(SMAD3):c.1141G>A (p.Gly381Arg)
|
|
|
NM_005902.4(SMAD3):c.1142G>T (p.Gly381Val)
|
rs1963252519
|
|
NM_005902.4(SMAD3):c.1144G>A (p.Ala382Thr)
|
|
|
NM_005902.4(SMAD3):c.1153A>G (p.Arg385Gly)
|
rs886038836
|
|
NM_005902.4(SMAD3):c.1154+3C>G
|
|
|
NM_005902.4(SMAD3):c.1154+3C>T
|
|
|
NM_005902.4(SMAD3):c.1154+4A>G
|
rs1963253277
|
|
NM_005902.4(SMAD3):c.1155-1G>A
|
rs1963331116
|
|
NM_005902.4(SMAD3):c.115G>C (p.Val39Leu)
|
rs2140188954
|
|
NM_005902.4(SMAD3):c.1175C>A (p.Thr392Asn)
|
rs1555414486
|
|
NM_005902.4(SMAD3):c.1178C>G (p.Pro393Arg)
|
|
|
NM_005902.4(SMAD3):c.1178C>T (p.Pro393Leu)
|
|
|
NM_005902.4(SMAD3):c.1180T>G (p.Cys394Gly)
|
rs2140327744
|
|
NM_005902.4(SMAD3):c.1183T>A (p.Trp395Arg)
|
|
|
NM_005902.4(SMAD3):c.1185G>T (p.Trp395Cys)
|
|
|
NM_005902.4(SMAD3):c.1187T>A (p.Ile396Asn)
|
rs1595965957
|
|
NM_005902.4(SMAD3):c.1187T>C (p.Ile396Thr)
|
rs1595965957
|
|
NM_005902.4(SMAD3):c.1190A>G (p.Glu397Gly)
|
rs1060500765
|
|
NM_005902.4(SMAD3):c.1190A>T (p.Glu397Val)
|
rs1060500765
|
|
NM_005902.4(SMAD3):c.1195C>T (p.His399Tyr)
|
rs1233301604
|
|
NM_005902.4(SMAD3):c.1221T>G (p.Leu407=)
|
|
|
NM_005902.4(SMAD3):c.1222G>C (p.Asp408His)
|
rs201263330
|
|
NM_005902.4(SMAD3):c.1228G>T (p.Val410Phe)
|
rs863223748
|
|
NM_005902.4(SMAD3):c.1228_1229insATGGCCTTTGCAGTGCCA (p.Val410delinsAspGlyLeuCysSerAlaIle)
|
rs1963333453
|
|
NM_005902.4(SMAD3):c.1230C>A (p.Val410=)
|
|
|
NM_005902.4(SMAD3):c.1231C>T (p.Leu411Phe)
|
|
|
NM_005902.4(SMAD3):c.1250C>T (p.Pro417Leu)
|
rs1963334413
|
|
NM_005902.4(SMAD3):c.1252A>G (p.Ser418Gly)
|
|
|
NM_005902.4(SMAD3):c.1259G>A (p.Arg420His)
|
rs762012589
|
|
NM_005902.4(SMAD3):c.1262G>A (p.Cys421Tyr)
|
|
|
NM_005902.4(SMAD3):c.1265C>A (p.Ser422Tyr)
|
rs1567005581
|
|
NM_005902.4(SMAD3):c.1265C>G (p.Ser422Cys)
|
|
|
NM_005902.4(SMAD3):c.1268G>A (p.Ser423Asn)
|
rs1555414503
|
|
NM_005902.4(SMAD3):c.1269T>A (p.Ser423Arg)
|
rs1060500772
|
|
NM_005902.4(SMAD3):c.1277A>T (p.Ter426Leu)
|
rs1555414505
|
|
NM_005902.4(SMAD3):c.1278G>C (p.Ter426Tyr)
|
rs1555414506
|
|
NM_005902.4(SMAD3):c.145G>C (p.Asp49His)
|
|
|
NM_005902.4(SMAD3):c.145G>T (p.Asp49Tyr)
|
rs1959914506
|
|
NM_005902.4(SMAD3):c.148G>A (p.Glu50Lys)
|
rs863223751
|
|
NM_005902.4(SMAD3):c.152T>C (p.Leu51Pro)
|
|
|
NM_005902.4(SMAD3):c.152T>G (p.Leu51Arg)
|
rs1595882150
|
|
NM_005902.4(SMAD3):c.157A>G (p.Lys53Glu)
|
rs2140189069
|
|
NM_005902.4(SMAD3):c.160G>A (p.Ala54Thr)
|
rs2140189075
|
|
NM_005902.4(SMAD3):c.161C>G (p.Ala54Gly)
|
|
|
NM_005902.4(SMAD3):c.163A>T (p.Ile55Phe)
|
|
|
NM_005902.4(SMAD3):c.163_177del (p.Ile55_Asn59del)
|
rs1595882160
|
|
NM_005902.4(SMAD3):c.170C>A (p.Thr57Lys)
|
rs1959915488
|
|
NM_005902.4(SMAD3):c.182A>C (p.Asn61Thr)
|
|
|
NM_005902.4(SMAD3):c.185C>T (p.Thr62Ile)
|
rs1959916186
|
|
NM_005902.4(SMAD3):c.190T>C (p.Cys64Arg)
|
rs1060500768
|
|
NM_005902.4(SMAD3):c.191G>A (p.Cys64Tyr)
|
|
|
NM_005902.4(SMAD3):c.193A>T (p.Ile65Phe)
|
|
|
NM_005902.4(SMAD3):c.194T>A (p.Ile65Asn)
|
|
|
NM_005902.4(SMAD3):c.194T>C (p.Ile65Thr)
|
rs1555405117
|
|
NM_005902.4(SMAD3):c.199A>G (p.Ile67Val)
|
|
|
NM_005902.4(SMAD3):c.203C>T (p.Pro68Leu)
|
|
|
NM_005902.4(SMAD3):c.205A>G (p.Arg69Gly)
|
rs1959916737
|
|
NM_005902.4(SMAD3):c.206+3G>T
|
rs1265081565
|
|
NM_005902.4(SMAD3):c.206+4G>A
|
|
|
NM_005902.4(SMAD3):c.206+5G>A
|
rs1959917032
|
|
NM_005902.4(SMAD3):c.206G>A (p.Arg69Lys)
|
rs1959916789
|
|
NM_005902.4(SMAD3):c.207-6_207-5insA
|
|
|
NM_005902.4(SMAD3):c.212T>C (p.Leu71Pro)
|
rs1262859970
|
|
NM_005902.4(SMAD3):c.214G>C (p.Asp72His)
|
|
|
NM_005902.4(SMAD3):c.215A>G (p.Asp72Gly)
|
|
|
NM_005902.4(SMAD3):c.217G>A (p.Gly73Ser)
|
rs1595941556
|
|
NM_005902.4(SMAD3):c.221G>A (p.Arg74Gln)
|
rs1566991387
|
|
NM_005902.4(SMAD3):c.229G>A (p.Val77Met)
|
|
|
NM_005902.4(SMAD3):c.229G>T (p.Val77Leu)
|
|
|
NM_005902.4(SMAD3):c.236A>G (p.His79Arg)
|
|
|
NM_005902.4(SMAD3):c.238C>T (p.Arg80Trp)
|
rs750707381
|
|
NM_005902.4(SMAD3):c.239G>C (p.Arg80Pro)
|
rs758823376
|
|
NM_005902.4(SMAD3):c.23C>G (p.Thr8Ser)
|
rs2140188733
|
|
NM_005902.4(SMAD3):c.243G>T (p.Lys81Asn)
|
rs1555412065
|
|
NM_005902.4(SMAD3):c.253C>T (p.His85Tyr)
|
|
|
NM_005902.4(SMAD3):c.25C>T (p.Pro9Ser)
|
|
|
NM_005902.4(SMAD3):c.262T>C (p.Tyr88His)
|
|
|
NM_005902.4(SMAD3):c.263A>G (p.Tyr88Cys)
|
rs1595941635
|
|
NM_005902.4(SMAD3):c.269G>C (p.Arg90Pro)
|
|
|
NM_005902.4(SMAD3):c.270_271delinsAA (p.Leu91Met)
|
rs1962535802
|
|
NM_005902.4(SMAD3):c.272T>C (p.Leu91Pro)
|
|
|
NM_005902.4(SMAD3):c.278G>T (p.Arg93Leu)
|
rs863223765
|
|
NM_005902.4(SMAD3):c.290T>C (p.Leu97Pro)
|
rs1595941698
|
|
NM_005902.4(SMAD3):c.292C>T (p.His98Tyr)
|
rs1962536933
|
|
NM_005902.4(SMAD3):c.298CAC[1] (p.His101del)
|
|
|
NM_005902.4(SMAD3):c.303C>G (p.His101Gln)
|
|
|
NM_005902.4(SMAD3):c.306_308dup (p.Leu103dup)
|
rs1962537774
|
|
NM_005902.4(SMAD3):c.308_309delinsCG (p.Leu103Pro)
|
rs2140294002
|
|
NM_005902.4(SMAD3):c.309_310inv (p.Arg104Trp)
|
|
|
NM_005902.4(SMAD3):c.309_311delinsGCA (p.Arg104Gln)
|
rs2140294017
|
|
NM_005902.4(SMAD3):c.310C>T (p.Arg104Trp)
|
rs1360614387
|
|
NM_005902.4(SMAD3):c.311G>A (p.Arg104Gln)
|
|
|
NM_005902.4(SMAD3):c.313G>C (p.Ala105Pro)
|
|
|
NM_005902.4(SMAD3):c.313G>T (p.Ala105Ser)
|
|
|
NM_005902.4(SMAD3):c.313_314delinsTT (p.Ala105Phe)
|
|
|
NM_005902.4(SMAD3):c.314C>T (p.Ala105Val)
|
|
|
NM_005902.4(SMAD3):c.316A>T (p.Met106Leu)
|
|
|
NM_005902.4(SMAD3):c.317T>C (p.Met106Thr)
|
rs1301737199
|
|
NM_005902.4(SMAD3):c.320A>G (p.Glu107Gly)
|
|
|
NM_005902.4(SMAD3):c.322C>A (p.Leu108Met)
|
rs1595941782
|
|
NM_005902.4(SMAD3):c.323T>G (p.Leu108Arg)
|
rs1962538901
|
|
NM_005902.4(SMAD3):c.325T>A (p.Cys109Ser)
|
rs1555412079
|
|
NM_005902.4(SMAD3):c.326G>A (p.Cys109Tyr)
|
rs878854814
|
|
NM_005902.4(SMAD3):c.331T>C (p.Phe111Leu)
|
rs1595941801
|
|
NM_005902.4(SMAD3):c.335C>T (p.Ala112Val)
|
rs387906854
|
|
NM_005902.4(SMAD3):c.340A>G (p.Asn114Asp)
|
rs2140294134
|
|
NM_005902.4(SMAD3):c.343A>G (p.Met115Val)
|
|
|
NM_005902.4(SMAD3):c.345G>A (p.Met115Ile)
|
rs1595941837
|
|
NM_005902.4(SMAD3):c.346AAG[1] (p.Lys117del)
|
rs2140294164
|
|
NM_005902.4(SMAD3):c.358G>T (p.Val120Phe)
|
|
|
NM_005902.4(SMAD3):c.359T>G (p.Val120Gly)
|
rs1962540440
|
|
NM_005902.4(SMAD3):c.364G>T (p.Val122Leu)
|
|
|
NM_005902.4(SMAD3):c.371C>T (p.Pro124Leu)
|
rs886039050
|
|
NM_005902.4(SMAD3):c.376C>A (p.His126Asn)
|
|
|
NM_005902.4(SMAD3):c.376C>T (p.His126Tyr)
|
rs886038771
|
|
NM_005902.4(SMAD3):c.377A>G (p.His126Arg)
|
rs863223766
|
|
NM_005902.4(SMAD3):c.379T>A (p.Tyr127Asn)
|
rs1962541191
|
|
NM_005902.4(SMAD3):c.384G>C (p.Gln128His)
|
rs1962541593
|
|
NM_005902.4(SMAD3):c.401-11C>A
|
rs1962548669
|
|
NM_005902.4(SMAD3):c.401-7C>A
|
rs774268232
|
|
NM_005902.4(SMAD3):c.41G>C (p.Arg14Pro)
|
|
|
NM_005902.4(SMAD3):c.436_447del (p.Ile146_Glu149del)
|
rs1555412124
|
|
NM_005902.4(SMAD3):c.445G>A (p.Glu149Lys)
|
rs1429991069
|
|
NM_005902.4(SMAD3):c.448T>C (p.Phe150Leu)
|
rs751860407
|
|
NM_005902.4(SMAD3):c.449T>A (p.Phe150Tyr)
|
|
|
NM_005902.4(SMAD3):c.451C>T (p.Pro151Ser)
|
|
|
NM_005902.4(SMAD3):c.454C>G (p.Pro152Ala)
|
|
|
NM_005902.4(SMAD3):c.463G>A (p.Asp155Asn)
|
|
|
NM_005902.4(SMAD3):c.467A>G (p.Tyr156Cys)
|
rs1397686956
|
|
NM_005902.4(SMAD3):c.46C>G (p.Leu16Val)
|
rs2140188791
|
|
NM_005902.4(SMAD3):c.481C>A (p.Pro161Thr)
|
|
|
NM_005902.4(SMAD3):c.481C>T (p.Pro161Ser)
|
|
|
NM_005902.4(SMAD3):c.490A>G (p.Thr164Ala)
|
|
|
NM_005902.4(SMAD3):c.490A>T (p.Thr164Ser)
|
rs1254152984
|
|
NM_005902.4(SMAD3):c.514C>T (p.Pro172Ser)
|
|
|
NM_005902.4(SMAD3):c.529C>T (p.Pro177Ser)
|
|
|
NM_005902.4(SMAD3):c.532+3A>G
|
|
|
NM_005902.4(SMAD3):c.532+5G>T
|
rs1962555390
|
|
NM_005902.4(SMAD3):c.533-1G>A
|
rs1350129614
|
|
NM_005902.4(SMAD3):c.544C>T (p.Pro182Ser)
|
|
|
NM_005902.4(SMAD3):c.56A>G (p.Lys19Arg)
|
rs1959912294
|
|
NM_005902.4(SMAD3):c.575G>A (p.Ser192Asn)
|
|
|
NM_005902.4(SMAD3):c.596G>C (p.Ser199Thr)
|
|
|
NM_005902.4(SMAD3):c.596G>T (p.Ser199Ile)
|
rs2140296884
|
|
NM_005902.4(SMAD3):c.598A>G (p.Met200Val)
|
|
|
NM_005902.4(SMAD3):c.5C>G (p.Ser2Trp)
|
|
|
NM_005902.4(SMAD3):c.601G>T (p.Asp201Tyr)
|
rs1182834384
|
|
NM_005902.4(SMAD3):c.602A>G (p.Asp201Gly)
|
rs1416321033
|
|
NM_005902.4(SMAD3):c.603C>G (p.Asp201Glu)
|
|
|
NM_005902.4(SMAD3):c.607+1G>T
|
rs1060500771
|
|
NM_005902.4(SMAD3):c.608G>A (p.Gly203Asp)
|
rs1962720069
|
|
NM_005902.4(SMAD3):c.625C>A (p.Pro209Thr)
|
|
|
NM_005902.4(SMAD3):c.626C>T (p.Pro209Leu)
|
rs1209899173
|
|
NM_005902.4(SMAD3):c.631C>G (p.Pro211Ala)
|
|
|
NM_005902.4(SMAD3):c.634A>T (p.Met212Leu)
|
rs1962721215
|
|
NM_005902.4(SMAD3):c.635T>C (p.Met212Thr)
|
|
|
NM_005902.4(SMAD3):c.644C>G (p.Ala215Gly)
|
rs376353913
|
|
NM_005902.4(SMAD3):c.644C>T (p.Ala215Val)
|
rs376353913
|
|
NM_005902.4(SMAD3):c.647A>G (p.His216Arg)
|
|
|
NM_005902.4(SMAD3):c.652A>G (p.Asn218Asp)
|
rs1962722777
|
|
NM_005902.4(SMAD3):c.658+4A>C
|
|
|
NM_005902.4(SMAD3):c.658+5G>A
|
rs1962723153
|
|
NM_005902.4(SMAD3):c.658G>A (p.Asp220Asn)
|
rs2140301204
|
|
NM_005902.4(SMAD3):c.658G>C (p.Asp220His)
|
|
|
NM_005902.4(SMAD3):c.659-12del
|
|
|
NM_005902.4(SMAD3):c.661C>G (p.Leu221Val)
|
rs1566999319
|
|
NM_005902.4(SMAD3):c.676T>C (p.Tyr226His)
|
rs1963044923
|
|
NM_005902.4(SMAD3):c.679T>G (p.Cys227Gly)
|
rs1963045127
|
|
NM_005902.4(SMAD3):c.682G>A (p.Glu228Lys)
|
rs863223735
|
|
NM_005902.4(SMAD3):c.686C>T (p.Pro229Leu)
|
rs1232187684
|
|
NM_005902.4(SMAD3):c.695G>C (p.Trp232Ser)
|
|
|
NM_005902.4(SMAD3):c.699C>G (p.Cys233Trp)
|
rs2140313911
|
|
NM_005902.4(SMAD3):c.707C>T (p.Ser236Phe)
|
rs1963046088
|
|
NM_005902.4(SMAD3):c.709TAC[1] (p.Tyr238del)
|
rs863223752
|
|
NM_005902.4(SMAD3):c.716_723delinsTT (p.Glu239_Asn241delinsVal)
|
|
|
NM_005902.4(SMAD3):c.719T>A (p.Leu240Gln)
|
|
|
NM_005902.4(SMAD3):c.71A>G (p.Asn24Ser)
|
|
|
NM_005902.4(SMAD3):c.720_743del (p.Asn241_Phe248del)
|
rs1566999378
|
|
NM_005902.4(SMAD3):c.721A>C (p.Asn241His)
|
|
|
NM_005902.4(SMAD3):c.728G>A (p.Arg243His)
|
rs863223736
|
|
NM_005902.4(SMAD3):c.72C>G (p.Asn24Lys)
|
rs780995229
|
|
NM_005902.4(SMAD3):c.730G>T (p.Val244Phe)
|
rs773543026
|
|
NM_005902.4(SMAD3):c.734G>A (p.Gly245Glu)
|
rs1963047822
|
|
NM_005902.4(SMAD3):c.742T>G (p.Phe248Val)
|
|
|
NM_005902.4(SMAD3):c.744C>G (p.Phe248Leu)
|
|
|
NM_005902.4(SMAD3):c.763A>T (p.Met255Leu)
|
|
|
NM_005902.4(SMAD3):c.769G>A (p.Val257Met)
|
rs1963049659
|
|
NM_005902.4(SMAD3):c.773A>C (p.Asp258Ala)
|
rs1566999483
|
|
NM_005902.4(SMAD3):c.773A>G (p.Asp258Gly)
|
rs1566999483
|
|
NM_005902.4(SMAD3):c.776G>A (p.Gly259Asp)
|
rs1963050062
|
|
NM_005902.4(SMAD3):c.781A>G (p.Thr261Ala)
|
rs1060500764
|
|
NM_005902.4(SMAD3):c.787C>T (p.Pro263Ser)
|
rs863223739
|
|
NM_005902.4(SMAD3):c.788C>T (p.Pro263Leu)
|
rs387906855
|
|
NM_005902.4(SMAD3):c.790_792dup (p.Ser264dup)
|
rs2140314233
|
|
NM_005902.4(SMAD3):c.79GAG[1] (p.Glu28del)
|
|
|
NM_005902.4(SMAD3):c.805T>C (p.Phe269Leu)
|
rs1595956712
|
|
NM_005902.4(SMAD3):c.827A>G (p.Asn276Ser)
|
|
|
NM_005902.4(SMAD3):c.835A>G (p.Arg279Gly)
|
rs1595956756
|
|
NM_005902.4(SMAD3):c.838A>T (p.Asn280Tyr)
|
rs2140314384
|
|
NM_005902.4(SMAD3):c.839A>G (p.Asn280Ser)
|
rs1433790279
|
|
NM_005902.4(SMAD3):c.842C>T (p.Ala281Val)
|
rs1963053530
|
|
NM_005902.4(SMAD3):c.850G>C (p.Glu284Gln)
|
rs886038991
|
|
NM_005902.4(SMAD3):c.854T>C (p.Leu285Pro)
|
|
|
NM_005902.4(SMAD3):c.864_866dup (p.Arg288_His289insGln)
|
|
|
NM_005902.4(SMAD3):c.871+5G>A
|
rs1963055122
|
|
NM_005902.4(SMAD3):c.871G>A (p.Gly291Arg)
|
rs730880215
|
|
NM_005902.4(SMAD3):c.871G>C (p.Gly291Arg)
|
|
|
NM_005902.4(SMAD3):c.872-15C>A
|
rs747102986
|
|
NM_005902.4(SMAD3):c.872-6_872-5del
|
rs1963174213
|
|
NM_005902.4(SMAD3):c.880G>A (p.Val294Met)
|
rs863223744
|
|
NM_005902.4(SMAD3):c.881T>C (p.Val294Ala)
|
|
|
NM_005902.4(SMAD3):c.884G>A (p.Arg295Gln)
|
rs772730200
|
|
NM_005902.4(SMAD3):c.884G>T (p.Arg295Leu)
|
rs772730200
|
|
NM_005902.4(SMAD3):c.887T>C (p.Leu296Pro)
|
rs2140319849
|
|
NM_005902.4(SMAD3):c.907G>A (p.Val303Ile)
|
rs1060500767
|
|
NM_005902.4(SMAD3):c.908T>A (p.Val303Asp)
|
rs1555414011
|
|
NM_005902.4(SMAD3):c.920G>A (p.Cys307Tyr)
|
|
|
NM_005902.4(SMAD3):c.922C>T (p.Leu308Phe)
|
rs764656928
|
|
NM_005902.4(SMAD3):c.925A>G (p.Ser309Gly)
|
rs754409301
|
|
NM_005902.4(SMAD3):c.931A>G (p.Ser311Gly)
|
|
|
NM_005902.4(SMAD3):c.934G>A (p.Ala312Thr)
|
rs750756638
|
|
NM_005902.4(SMAD3):c.934G>C (p.Ala312Pro)
|
|
|
NM_005902.4(SMAD3):c.937A>G (p.Ile313Val)
|
rs1595960434
|
|
NM_005902.4(SMAD3):c.943G>A (p.Val315Ile)
|
|
|
NM_005902.4(SMAD3):c.943G>T (p.Val315Phe)
|
rs1468779374
|
|
NM_005902.4(SMAD3):c.947A>G (p.Gln316Arg)
|
|
|
NM_005902.4(SMAD3):c.955A>G (p.Asn319Asp)
|
rs1595960455
|
|
NM_005902.4(SMAD3):c.967C>T (p.Arg323Cys)
|
rs967072552
|
|
NM_005902.4(SMAD3):c.96G>C (p.Glu32Asp)
|
rs1450927153
|
|
NM_005902.4(SMAD3):c.992T>A (p.Val331Asp)
|
rs1555414028
|
|
NM_005902.4(SMAD3):c.994T>C (p.Cys332Arg)
|
|
|
NM_005911.6(MAT2A):c.1019A>G (p.Lys340Arg)
|
|
|
NM_005911.6(MAT2A):c.1053G>T (p.Lys351Asn)
|
rs2103919654
|
|
NM_005911.6(MAT2A):c.1110T>G (p.Ile370Met)
|
rs141157197
|
|
NM_005911.6(MAT2A):c.1172A>G (p.Lys391Arg)
|
rs1236378217
|
|
NM_005911.6(MAT2A):c.11A>G (p.Gln4Arg)
|
|
|
NM_005911.6(MAT2A):c.16A>C (p.Asn6His)
|
|
|
NM_005911.6(MAT2A):c.170-11_170-10del
|
rs1175001476
|
|
NM_005911.6(MAT2A):c.25C>T (p.His9Tyr)
|
rs909244613
|
|
NM_005911.6(MAT2A):c.286T>G (p.Ser96Ala)
|
rs2103916591
|
|
NM_005911.6(MAT2A):c.305A>C (p.Lys102Thr)
|
|
|
NM_005911.6(MAT2A):c.317T>G (p.Val106Gly)
|
rs2103917082
|
|
NM_005911.6(MAT2A):c.374G>A (p.Arg125Lys)
|
|
|
NM_005911.6(MAT2A):c.37A>G (p.Ile13Val)
|
|
|
NM_005911.6(MAT2A):c.384A>C (p.Glu128Asp)
|
|
|
NM_005911.6(MAT2A):c.460A>G (p.Ile154Val)
|
|
|
NM_005911.6(MAT2A):c.549A>G (p.Gln183=)
|
|
|
NM_005911.6(MAT2A):c.55C>T (p.Leu19Phe)
|
rs1691389356
|
|
NM_005911.6(MAT2A):c.574C>T (p.Arg192Ter)
|
|
|
NM_005911.6(MAT2A):c.614T>C (p.Ile205Thr)
|
|
|
NM_005911.6(MAT2A):c.658G>A (p.Asp220Asn)
|
|
|
NM_005911.6(MAT2A):c.697G>C (p.Ala233Pro)
|
|
|
NM_005911.6(MAT2A):c.800T>C (p.Ile267Thr)
|
rs2103918667
|
|
NM_005911.6(MAT2A):c.8G>A (p.Gly3Glu)
|
rs1691387581
|
|
NM_006258.4(PRKG1):c.-5G>A
|
|
|
NM_006258.4(PRKG1):c.1003T>C (p.Ser335Pro)
|
|
|
NM_006258.4(PRKG1):c.1042A>C (p.Asn348His)
|
|
|
NM_006258.4(PRKG1):c.1066G>A (p.Ala356Thr)
|
|
|
NM_006258.4(PRKG1):c.1067C>T (p.Ala356Val)
|
|
|
NM_006258.4(PRKG1):c.1076A>G (p.Lys359Arg)
|
rs869025500
|
|
NM_006258.4(PRKG1):c.1083A>C (p.Glu361Asp)
|
|
|
NM_006258.4(PRKG1):c.1085C>T (p.Ala362Val)
|
|
|
NM_006258.4(PRKG1):c.1091C>T (p.Ala364Val)
|
|
|
NM_006258.4(PRKG1):c.1148T>C (p.Val383Ala)
|
|
|
NM_006258.4(PRKG1):c.1188T>G (p.Ser396Arg)
|
|
|
NM_006258.4(PRKG1):c.1258C>T (p.His420Tyr)
|
|
|
NM_006258.4(PRKG1):c.127C>G (p.Gln43Glu)
|
|
|
NM_006258.4(PRKG1):c.1280T>A (p.Ile427Asn)
|
|
|
NM_006258.4(PRKG1):c.1304T>C (p.Phe435Ser)
|
|
|
NM_006258.4(PRKG1):c.1306A>C (p.Ile436Leu)
|
|
|
NM_006258.4(PRKG1):c.1325C>T (p.Thr442Ile)
|
|
|
NM_006258.4(PRKG1):c.133G>A (p.Glu45Lys)
|
|
|
NM_006258.4(PRKG1):c.1405G>A (p.Gly469Ser)
|
|
|
NM_006258.4(PRKG1):c.1450G>C (p.Val484Leu)
|
|
|
NM_006258.4(PRKG1):c.149G>A (p.Arg50His)
|
|
|
NM_006258.4(PRKG1):c.1529G>A (p.Arg510Gln)
|
|
|
NM_006258.4(PRKG1):c.1532G>T (p.Gly511Val)
|
|
|
NM_006258.4(PRKG1):c.1594A>T (p.Thr532Ser)
|
|
|
NM_006258.4(PRKG1):c.1726C>T (p.Pro576Ser)
|
rs1482011029
|
|
NM_006258.4(PRKG1):c.1765A>T (p.Ile589Phe)
|
|
|
NM_006258.4(PRKG1):c.1788G>T (p.Lys596Asn)
|
|
|
NM_006258.4(PRKG1):c.1792A>G (p.Ile598Val)
|
|
|
NM_006258.4(PRKG1):c.1855G>T (p.Gly619Trp)
|
|
|
NM_006258.4(PRKG1):c.1891C>T (p.His631Tyr)
|
rs1554824244
|
|
NM_006258.4(PRKG1):c.1896A>T (p.Lys632Asn)
|
|
|
NM_006258.4(PRKG1):c.1934G>T (p.Gly645Val)
|
rs2132462447
|
|
NM_006258.4(PRKG1):c.1961G>C (p.Ser654Thr)
|
|
|
NM_006258.4(PRKG1):c.197G>T (p.Ser66Ile)
|
rs530013905
|
|
NM_006258.4(PRKG1):c.200C>T (p.Thr67Ile)
|
|
|
NM_006258.4(PRKG1):c.271C>T (p.Leu91Phe)
|
|
|
NM_006258.4(PRKG1):c.307C>T (p.Pro103Ser)
|
|
|
NM_006258.4(PRKG1):c.319G>C (p.Asp107His)
|
rs751916382
|
|
NM_006258.4(PRKG1):c.337A>G (p.Ile113Val)
|
rs1554841032
|
|
NM_006258.4(PRKG1):c.369G>C (p.Glu123Asp)
|
|
|
NM_006258.4(PRKG1):c.38A>G (p.Glu13Gly)
|
|
|
NM_006258.4(PRKG1):c.397T>G (p.Cys133Gly)
|
|
|
NM_006258.4(PRKG1):c.440A>G (p.Lys147Arg)
|
|
|
NM_006258.4(PRKG1):c.505G>A (p.Gly169Ser)
|
|
|
NM_006258.4(PRKG1):c.610C>T (p.Leu204Phe)
|
rs1839257214
|
|
NM_006258.4(PRKG1):c.643A>G (p.Ile215Val)
|
|
|
NM_006258.4(PRKG1):c.664A>G (p.Ile222Val)
|
|
|
NM_006258.4(PRKG1):c.766C>T (p.His256Tyr)
|
|
|
NM_006258.4(PRKG1):c.865C>G (p.Pro289Ala)
|
|
|
NM_006258.4(PRKG1):c.866C>T (p.Pro289Leu)
|
rs549568221
|
|
NM_006258.4(PRKG1):c.881T>G (p.Val294Gly)
|
|
|
NM_006258.4(PRKG1):c.910T>A (p.Trp304Arg)
|
|
|
NM_006258.4(PRKG1):c.957C>A (p.Asn319Lys)
|
|
|
NM_006258.4(PRKG1):c.958G>A (p.Val320Ile)
|
rs768491086
|
|
NM_006258.4(PRKG1):c.974C>A (p.Ala325Asp)
|
|
|
NM_012186.3(FOXE3):c.398C>A (p.Pro133His)
|
rs759971494
|
|
NM_017617.5(NOTCH1):c.1018G>A (p.Ala340Thr)
|
|
|
NM_017617.5(NOTCH1):c.1024G>A (p.Ala342Thr)
|
|
|
NM_017617.5(NOTCH1):c.1046C>T (p.Thr349Ile)
|
|
|
NM_017617.5(NOTCH1):c.1058G>A (p.Arg353His)
|
|
|
NM_017617.5(NOTCH1):c.1070T>C (p.Phe357Ser)
|
rs1843316172
|
|
NM_017617.5(NOTCH1):c.1146C>A (p.Asn382Lys)
|
|
|
NM_017617.5(NOTCH1):c.1156A>G (p.Asn386Asp)
|
|
|
NM_017617.5(NOTCH1):c.1189A>G (p.Ile397Val)
|
|
|
NM_017617.5(NOTCH1):c.1196C>A (p.Thr399Asn)
|
|
|
NM_017617.5(NOTCH1):c.1325A>C (p.Gln442Pro)
|
|
|
NM_017617.5(NOTCH1):c.1379C>T (p.Pro460Leu)
|
|
|
NM_017617.5(NOTCH1):c.139G>C (p.Val47Leu)
|
|
|
NM_017617.5(NOTCH1):c.1533G>T (p.Glu511Asp)
|
|
|
NM_017617.5(NOTCH1):c.1553C>G (p.Thr518Arg)
|
|
|
NM_017617.5(NOTCH1):c.1591G>A (p.Glu531Lys)
|
|
|
NM_017617.5(NOTCH1):c.1640C>T (p.Pro547Leu)
|
|
|
NM_017617.5(NOTCH1):c.164C>G (p.Pro55Arg)
|
|
|
NM_017617.5(NOTCH1):c.1669+7G>T
|
rs1843261979
|
|
NM_017617.5(NOTCH1):c.1684C>T (p.His562Tyr)
|
|
|
NM_017617.5(NOTCH1):c.16G>T (p.Ala6Ser)
|
|
|
NM_017617.5(NOTCH1):c.1701C>G (p.Ile567Met)
|
rs773932034
|
|
NM_017617.5(NOTCH1):c.1711G>A (p.Asp571Asn)
|
rs373125283
|
|
NM_017617.5(NOTCH1):c.1712A>C (p.Asp571Ala)
|
rs1008678112
|
|
NM_017617.5(NOTCH1):c.1718A>C (p.Asp573Ala)
|
rs890104857
|
|
NM_017617.5(NOTCH1):c.1719C>A (p.Asp573Glu)
|
rs1002136018
|
|
NM_017617.5(NOTCH1):c.1726C>T (p.His576Tyr)
|
|
|
NM_017617.5(NOTCH1):c.1741A>G (p.Lys581Glu)
|
rs778992111
|
|
NM_017617.5(NOTCH1):c.1753G>A (p.Ala585Thr)
|
rs775217381
|
|
NM_017617.5(NOTCH1):c.17_18delinsTT (p.Ala6Val)
|
rs878855023
|
|
NM_017617.5(NOTCH1):c.1862G>T (p.Arg621Leu)
|
|
|
NM_017617.5(NOTCH1):c.1898C>T (p.Thr633Ile)
|
|
|
NM_017617.5(NOTCH1):c.1903+7G>A
|
rs760116150
|
|
NM_017617.5(NOTCH1):c.1915G>A (p.Glu639Lys)
|
|
|
NM_017617.5(NOTCH1):c.1982G>C (p.Gly661Ala)
|
|
|
NM_017617.5(NOTCH1):c.2014+11del
|
rs1293617360
|
|
NM_017617.5(NOTCH1):c.2054A>C (p.Asn685Thr)
|
rs781473342
|
|
NM_017617.5(NOTCH1):c.2092A>G (p.Asn698Asp)
|
|
|
NM_017617.5(NOTCH1):c.2150T>C (p.Val717Ala)
|
|
|
NM_017617.5(NOTCH1):c.2185G>T (p.Ala729Ser)
|
|
|
NM_017617.5(NOTCH1):c.2218G>T (p.Asp740Tyr)
|
|
|
NM_017617.5(NOTCH1):c.2243C>A (p.Thr748Asn)
|
rs1284149123
|
|
NM_017617.5(NOTCH1):c.2280C>A (p.Asn760Lys)
|
|
|
NM_017617.5(NOTCH1):c.2291A>G (p.Asn764Ser)
|
rs1454630791
|
|
NM_017617.5(NOTCH1):c.2338C>T (p.Arg780Trp)
|
rs756642176
|
|
NM_017617.5(NOTCH1):c.2350A>G (p.Ser784Gly)
|
|
|
NM_017617.5(NOTCH1):c.2351G>C (p.Ser784Thr)
|
|
|
NM_017617.5(NOTCH1):c.2374A>C (p.Ile792Leu)
|
|
|
NM_017617.5(NOTCH1):c.2408A>G (p.Gln803Arg)
|
|
|
NM_017617.5(NOTCH1):c.2414C>A (p.Thr805Lys)
|
|
|
NM_017617.5(NOTCH1):c.2424C>A (p.Asp808Glu)
|
rs371627685
|
|
NM_017617.5(NOTCH1):c.2434G>C (p.Gly812Arg)
|
rs201620755
|
|
NM_017617.5(NOTCH1):c.2461T>C (p.Tyr821His)
|
|
|
NM_017617.5(NOTCH1):c.2481G>C (p.Glu827Asp)
|
|
|
NM_017617.5(NOTCH1):c.2494C>T (p.Pro832Ser)
|
|
|
NM_017617.5(NOTCH1):c.2498G>A (p.Cys833Tyr)
|
|
|
NM_017617.5(NOTCH1):c.2501C>G (p.Ala834Gly)
|
rs202144877
|
|
NM_017617.5(NOTCH1):c.2507G>A (p.Ser836Asn)
|
|
|
NM_017617.5(NOTCH1):c.2524G>A (p.Gly842Arg)
|
|
|
NM_017617.5(NOTCH1):c.2527G>A (p.Glu843Lys)
|
rs750170645
|
|
NM_017617.5(NOTCH1):c.2549A>G (p.Tyr850Cys)
|
|
|
NM_017617.5(NOTCH1):c.2558_2560del (p.Phe853del)
|
rs779164170
|
|
NM_017617.5(NOTCH1):c.2566G>T (p.Val856Phe)
|
|
|
NM_017617.5(NOTCH1):c.2593A>T (p.Thr865Ser)
|
rs1843168932
|
|
NM_017617.5(NOTCH1):c.2613C>G (p.Asn871Lys)
|
|
|
NM_017617.5(NOTCH1):c.2626A>G (p.Ser876Gly)
|
|
|
NM_017617.5(NOTCH1):c.2636G>T (p.Arg879Leu)
|
rs368011392
|
|
NM_017617.5(NOTCH1):c.2658C>A (p.Asn886Lys)
|
|
|
NM_017617.5(NOTCH1):c.2659A>G (p.Thr887Ala)
|
|
|
NM_017617.5(NOTCH1):c.269_270delinsTG (p.Ala90Val)
|
rs1554730737
|
|
NM_017617.5(NOTCH1):c.2705G>A (p.Arg902His)
|
rs373075482
|
|
NM_017617.5(NOTCH1):c.2708A>C (p.Asn903Thr)
|
|
|
NM_017617.5(NOTCH1):c.2741-3C>G
|
|
|
NM_017617.5(NOTCH1):c.2759G>C (p.Gly920Ala)
|
|
|
NM_017617.5(NOTCH1):c.2762C>T (p.Ser921Phe)
|
|
|
NM_017617.5(NOTCH1):c.2768C>T (p.Thr923Ile)
|
|
|
NM_017617.5(NOTCH1):c.2771A>C (p.Asp924Ala)
|
|
|
NM_017617.5(NOTCH1):c.2778C>G (p.Ile926Met)
|
|
|
NM_017617.5(NOTCH1):c.2864G>A (p.Arg955His)
|
rs557049479
|
|
NM_017617.5(NOTCH1):c.2890G>A (p.Val964Met)
|
|
|
NM_017617.5(NOTCH1):c.2898_2899delinsGA (p.Ser966_Tyr967delinsArgAsn)
|
rs1843149230
|
|
NM_017617.5(NOTCH1):c.2899T>A (p.Tyr967Asn)
|
|
|
NM_017617.5(NOTCH1):c.289C>T (p.Leu97Phe)
|
|
|
NM_017617.5(NOTCH1):c.2902A>G (p.Thr968Ala)
|
|
|
NM_017617.5(NOTCH1):c.2914C>T (p.Pro972Ser)
|
|
|
NM_017617.5(NOTCH1):c.2918C>T (p.Ala973Val)
|
|
|
NM_017617.5(NOTCH1):c.2928C>A (p.Ser976Arg)
|
|
|
NM_017617.5(NOTCH1):c.2970-10C>A
|
rs2133349102
|
|
NM_017617.5(NOTCH1):c.3010T>G (p.Ser1004Ala)
|
|
|
NM_017617.5(NOTCH1):c.3041C>T (p.Thr1014Met)
|
|
|
NM_017617.5(NOTCH1):c.3061G>C (p.Asp1021His)
|
|
|
NM_017617.5(NOTCH1):c.3080C>T (p.Ser1027Leu)
|
|
|
NM_017617.5(NOTCH1):c.3098G>A (p.Gly1033Asp)
|
|
|
NM_017617.5(NOTCH1):c.3104C>T (p.Thr1035Ile)
|
rs886039138
|
|
NM_017617.5(NOTCH1):c.3114C>G (p.Asp1038Glu)
|
|
|
NM_017617.5(NOTCH1):c.3148G>A (p.Gly1050Ser)
|
|
|
NM_017617.5(NOTCH1):c.3160C>T (p.Pro1054Ser)
|
|
|
NM_017617.5(NOTCH1):c.3176T>C (p.Leu1059Pro)
|
|
|
NM_017617.5(NOTCH1):c.3181C>T (p.His1061Tyr)
|
rs766126767
|
|
NM_017617.5(NOTCH1):c.3236C>T (p.Thr1079Ile)
|
|
|
NM_017617.5(NOTCH1):c.3238C>G (p.Gln1080Glu)
|
|
|
NM_017617.5(NOTCH1):c.3268A>G (p.Thr1090Ala)
|
|
|
NM_017617.5(NOTCH1):c.3283G>A (p.Asp1095Asn)
|
|
|
NM_017617.5(NOTCH1):c.3326-3C>T
|
|
|
NM_017617.5(NOTCH1):c.335G>A (p.Arg112His)
|
rs768625801
|
|
NM_017617.5(NOTCH1):c.3383C>T (p.Thr1128Met)
|
|
|
NM_017617.5(NOTCH1):c.338A>G (p.Asn113Ser)
|
|
|
NM_017617.5(NOTCH1):c.3456C>G (p.Ser1152Arg)
|
|
|
NM_017617.5(NOTCH1):c.3465G>C (p.Gln1155His)
|
|
|
NM_017617.5(NOTCH1):c.3511-3C>T
|
|
|
NM_017617.5(NOTCH1):c.3527A>G (p.His1176Arg)
|
|
|
NM_017617.5(NOTCH1):c.352G>A (p.Asp118Asn)
|
rs745590123
|
|
NM_017617.5(NOTCH1):c.3536A>T (p.Asn1179Ile)
|
|
|
NM_017617.5(NOTCH1):c.3549G>T (p.Glu1183Asp)
|
|
|
NM_017617.5(NOTCH1):c.3556G>A (p.Glu1186Lys)
|
|
|
NM_017617.5(NOTCH1):c.3579G>T (p.Gln1193His)
|
rs61751544
|
|
NM_017617.5(NOTCH1):c.35C>T (p.Ala12Val)
|
rs1473062369
|
|
NM_017617.5(NOTCH1):c.3600C>G (p.Asp1200Glu)
|
|
|
NM_017617.5(NOTCH1):c.3604C>T (p.Pro1202Ser)
|
rs1554728268
|
|
NM_017617.5(NOTCH1):c.3609C>A (p.Asn1203Lys)
|
rs1843104558
|
|
NM_017617.5(NOTCH1):c.3635G>T (p.Gly1212Val)
|
|
|
NM_017617.5(NOTCH1):c.3638C>G (p.Thr1213Ser)
|
rs750536437
|
|
NM_017617.5(NOTCH1):c.3667G>A (p.Asp1223Asn)
|
|
|
NM_017617.5(NOTCH1):c.3694G>T (p.Val1232Leu)
|
|
|
NM_017617.5(NOTCH1):c.3732C>G (p.Cys1244Trp)
|
|
|
NM_017617.5(NOTCH1):c.376A>G (p.Lys126Glu)
|
rs1589072528
|
|
NM_017617.5(NOTCH1):c.3770C>G (p.Pro1257Arg)
|
|
|
NM_017617.5(NOTCH1):c.3853G>T (p.Val1285Leu)
|
rs756972680
|
|
NM_017617.5(NOTCH1):c.3870C>G (p.Asp1290Glu)
|
|
|
NM_017617.5(NOTCH1):c.3899C>T (p.Thr1300Ile)
|
|
|
NM_017617.5(NOTCH1):c.3970G>T (p.Val1324Leu)
|
rs149057410
|
|
NM_017617.5(NOTCH1):c.4014+3A>G
|
|
|
NM_017617.5(NOTCH1):c.4031C>G (p.Thr1344Arg)
|
rs201215245
|
|
NM_017617.5(NOTCH1):c.4031C>T (p.Thr1344Met)
|
rs201215245
|
|
NM_017617.5(NOTCH1):c.4049G>A (p.Arg1350His)
|
rs150343794
|
|
NM_017617.5(NOTCH1):c.4049G>T (p.Arg1350Leu)
|
rs150343794
|
|
NM_017617.5(NOTCH1):c.404G>C (p.Gly135Ala)
|
|
|
NM_017617.5(NOTCH1):c.4099C>A (p.Pro1367Thr)
|
|
|
NM_017617.5(NOTCH1):c.4105A>G (p.Ser1369Gly)
|
|
|
NM_017617.5(NOTCH1):c.4166G>T (p.Ser1389Ile)
|
|
|
NM_017617.5(NOTCH1):c.4184A>T (p.Asn1395Ile)
|
|
|
NM_017617.5(NOTCH1):c.4200G>C (p.Gln1400His)
|
|
|
NM_017617.5(NOTCH1):c.4210G>A (p.Glu1404Lys)
|
|
|
NM_017617.5(NOTCH1):c.4260C>T (p.Phe1420=)
|
|
|
NM_017617.5(NOTCH1):c.4313_4314delinsAA (p.Arg1438Gln)
|
rs1843068742
|
|
NM_017617.5(NOTCH1):c.4325C>G (p.Pro1442Arg)
|
|
|
NM_017617.5(NOTCH1):c.4325C>T (p.Pro1442Leu)
|
|
|
NM_017617.5(NOTCH1):c.4335C>G (p.Ile1445Met)
|
rs373960609
|
|
NM_017617.5(NOTCH1):c.433G>A (p.Ala145Thr)
|
rs1388726872
|
|
NM_017617.5(NOTCH1):c.433G>T (p.Ala145Ser)
|
|
|
NM_017617.5(NOTCH1):c.4343C>T (p.Ala1448Val)
|
|
|
NM_017617.5(NOTCH1):c.4546T>C (p.Phe1516Leu)
|
|
|
NM_017617.5(NOTCH1):c.4548C>G (p.Phe1516Leu)
|
|
|
NM_017617.5(NOTCH1):c.4568G>T (p.Arg1523Leu)
|
|
|
NM_017617.5(NOTCH1):c.4587-10dup
|
rs766780122
|
|
NM_017617.5(NOTCH1):c.4587-5C>T
|
|
|
NM_017617.5(NOTCH1):c.4589C>T (p.Pro1530Leu)
|
|
|
NM_017617.5(NOTCH1):c.461A>G (p.Gln154Arg)
|
|
|
NM_017617.5(NOTCH1):c.4636G>A (p.Asp1546Asn)
|
|
|
NM_017617.5(NOTCH1):c.4640A>G (p.Gln1547Arg)
|
rs1055806143
|
|
NM_017617.5(NOTCH1):c.4685C>T (p.Ala1562Val)
|
|
|
NM_017617.5(NOTCH1):c.4696C>T (p.Pro1566Ser)
|
|
|
NM_017617.5(NOTCH1):c.4792C>T (p.Arg1598Cys)
|
|
|
NM_017617.5(NOTCH1):c.4801C>A (p.His1601Asn)
|
|
|
NM_017617.5(NOTCH1):c.4814T>C (p.Val1605Ala)
|
|
|
NM_017617.5(NOTCH1):c.4822C>T (p.Arg1608Cys)
|
|
|
NM_017617.5(NOTCH1):c.4835G>A (p.Gly1612Asp)
|
rs1223921509
|
|
NM_017617.5(NOTCH1):c.4841A>T (p.Gln1614Leu)
|
|
|
NM_017617.5(NOTCH1):c.4852C>T (p.Pro1618Ser)
|
|
|
NM_017617.5(NOTCH1):c.4867G>C (p.Glu1623Gln)
|
|
|
NM_017617.5(NOTCH1):c.4870G>C (p.Glu1624Gln)
|
rs1843052920
|
|
NM_017617.5(NOTCH1):c.4891A>G (p.Ile1631Val)
|
|
|
NM_017617.5(NOTCH1):c.4901CCG[1] (p.Ala1635del)
|
|
|
NM_017617.5(NOTCH1):c.4913G>T (p.Trp1638Leu)
|
|
|
NM_017617.5(NOTCH1):c.4949C>A (p.Ala1650Asp)
|
|
|
NM_017617.5(NOTCH1):c.4951T>G (p.Ser1651Ala)
|
|
|
NM_017617.5(NOTCH1):c.4963G>C (p.Gly1655Arg)
|
|
|
NM_017617.5(NOTCH1):c.4964G>A (p.Gly1655Asp)
|
|
|
NM_017617.5(NOTCH1):c.4966G>A (p.Gly1656Ser)
|
|
|
NM_017617.5(NOTCH1):c.4971C>G (p.Ser1657Arg)
|
rs367838230
|
|
NM_017617.5(NOTCH1):c.4974G>C (p.Glu1658Asp)
|
|
|
NM_017617.5(NOTCH1):c.4987C>T (p.Arg1663Trp)
|
|
|
NM_017617.5(NOTCH1):c.499C>G (p.Pro167Ala)
|
|
|
NM_017617.5(NOTCH1):c.5008G>T (p.Asp1670Tyr)
|
|
|
NM_017617.5(NOTCH1):c.5019-10del
|
rs1843030303
|
|
NM_017617.5(NOTCH1):c.5092G>T (p.Asp1698Tyr)
|
|
|
NM_017617.5(NOTCH1):c.5132G>A (p.Ser1711Asn)
|
|
|
NM_017617.5(NOTCH1):c.5166G>C (p.Gln1722His)
|
|
|
NM_017617.5(NOTCH1):c.5167+3A>G
|
rs1025172473
|
|
NM_017617.5(NOTCH1):c.5168G>C (p.Ser1723Thr)
|
|
|
NM_017617.5(NOTCH1):c.5210T>C (p.Met1737Thr)
|
|
|
NM_017617.5(NOTCH1):c.5215G>A (p.Val1739Met)
|
rs377294245
|
|
NM_017617.5(NOTCH1):c.5236C>T (p.Leu1746Phe)
|
|
|
NM_017617.5(NOTCH1):c.5266C>G (p.Leu1756Val)
|
|
|
NM_017617.5(NOTCH1):c.5319C>G (p.Phe1773Leu)
|
|
|
NM_017617.5(NOTCH1):c.5321A>G (p.Lys1774Arg)
|
|
|
NM_017617.5(NOTCH1):c.536T>A (p.Val179Asp)
|
|
|
NM_017617.5(NOTCH1):c.5394G>T (p.Lys1798Asn)
|
|
|
NM_017617.5(NOTCH1):c.5395A>C (p.Asn1799His)
|
|
|
NM_017617.5(NOTCH1):c.5434G>A (p.Glu1812Lys)
|
rs1843005451
|
|
NM_017617.5(NOTCH1):c.5438G>T (p.Trp1813Leu)
|
rs755659037
|
|
NM_017617.5(NOTCH1):c.5441G>C (p.Gly1814Ala)
|
|
|
NM_017617.5(NOTCH1):c.5447A>G (p.Glu1816Gly)
|
rs2133329831
|
|
NM_017617.5(NOTCH1):c.5455G>C (p.Glu1819Gln)
|
rs2133329789
|
|
NM_017617.5(NOTCH1):c.5474T>C (p.Phe1825Ser)
|
|
|
NM_017617.5(NOTCH1):c.5476G>A (p.Glu1826Lys)
|
rs374103443
|
|
NM_017617.5(NOTCH1):c.551A>G (p.Gln184Arg)
|
|
|
NM_017617.5(NOTCH1):c.5536C>A (p.Gln1846Lys)
|
|
|
NM_017617.5(NOTCH1):c.5561G>A (p.Arg1854His)
|
rs878855028
|
|
NM_017617.5(NOTCH1):c.5603A>T (p.Asp1868Val)
|
|
|
NM_017617.5(NOTCH1):c.5612G>A (p.Cys1871Tyr)
|
|
|
NM_017617.5(NOTCH1):c.5630G>A (p.Arg1877His)
|
|
|
NM_017617.5(NOTCH1):c.569G>T (p.Arg190Leu)
|
|
|
NM_017617.5(NOTCH1):c.5723C>T (p.Ala1908Val)
|
rs886039188
|
|
NM_017617.5(NOTCH1):c.5732C>G (p.Ser1911Cys)
|
|
|
NM_017617.5(NOTCH1):c.5756G>A (p.Ser1919Asn)
|
|
|
NM_017617.5(NOTCH1):c.5903C>T (p.Ala1968Val)
|
|
|
NM_017617.5(NOTCH1):c.5914G>A (p.Asp1972Asn)
|
rs1414380652
|
|
NM_017617.5(NOTCH1):c.592G>A (p.Glu198Lys)
|
|
|
NM_017617.5(NOTCH1):c.59G>T (p.Arg20Leu)
|
rs1554733799
|
|
NM_017617.5(NOTCH1):c.6008C>T (p.Ala2003Val)
|
|
|
NM_017617.5(NOTCH1):c.6016G>A (p.Ala2006Thr)
|
|
|
NM_017617.5(NOTCH1):c.602C>T (p.Ser201Phe)
|
|
|
NM_017617.5(NOTCH1):c.6065A>G (p.Asn2022Ser)
|
|
|
NM_017617.5(NOTCH1):c.607C>A (p.Arg203Ser)
|
|
|
NM_017617.5(NOTCH1):c.6137T>C (p.Val2046Ala)
|
rs1374171839
|
|
NM_017617.5(NOTCH1):c.6159C>A (p.Asn2053Lys)
|
|
|
NM_017617.5(NOTCH1):c.6167T>C (p.Met2056Thr)
|
|
|
NM_017617.5(NOTCH1):c.6175A>G (p.Asn2059Asp)
|
|
|
NM_017617.5(NOTCH1):c.62-4C>T
|
|
|
NM_017617.5(NOTCH1):c.6284G>T (p.Arg2095Leu)
|
rs756874994
|
|
NM_017617.5(NOTCH1):c.6290C>T (p.Pro2097Leu)
|
|
|
NM_017617.5(NOTCH1):c.629A>G (p.His210Arg)
|
|
|
NM_017617.5(NOTCH1):c.6314T>C (p.Met2105Thr)
|
|
|
NM_017617.5(NOTCH1):c.6343G>C (p.Glu2115Gln)
|
|
|
NM_017617.5(NOTCH1):c.6375C>G (p.His2125Gln)
|
rs369009290
|
|
NM_017617.5(NOTCH1):c.6388G>C (p.Gly2130Arg)
|
|
|
NM_017617.5(NOTCH1):c.6428A>G (p.Asn2143Ser)
|
rs1085307778
|
|
NM_017617.5(NOTCH1):c.6433T>C (p.Tyr2145His)
|
|
|
NM_017617.5(NOTCH1):c.6454G>A (p.Gly2152Ser)
|
rs116317506
|
|
NM_017617.5(NOTCH1):c.6487A>C (p.Ser2163Arg)
|
|
|
NM_017617.5(NOTCH1):c.6533C>T (p.Ala2178Val)
|
|
|
NM_017617.5(NOTCH1):c.6578G>A (p.Ser2193Asn)
|
|
|
NM_017617.5(NOTCH1):c.6583G>C (p.Gly2195Arg)
|
|
|
NM_017617.5(NOTCH1):c.6691C>G (p.Leu2231Val)
|
|
|
NM_017617.5(NOTCH1):c.6715G>A (p.Asp2239Asn)
|
|
|
NM_017617.5(NOTCH1):c.6724C>G (p.Leu2242Val)
|
|
|
NM_017617.5(NOTCH1):c.6738C>G (p.His2246Gln)
|
rs1842927243
|
|
NM_017617.5(NOTCH1):c.6740T>C (p.Leu2247Pro)
|
|
|
NM_017617.5(NOTCH1):c.6744C>G (p.Asn2248Lys)
|
rs372771288
|
|
NM_017617.5(NOTCH1):c.6769G>T (p.Ala2257Ser)
|
|
|
NM_017617.5(NOTCH1):c.6799G>C (p.Glu2267Gln)
|
|
|
NM_017617.5(NOTCH1):c.6851C>T (p.Thr2284Ile)
|
rs1341934554
|
|
NM_017617.5(NOTCH1):c.6857T>A (p.Leu2286Gln)
|
|
|
NM_017617.5(NOTCH1):c.6860G>A (p.Gly2287Asp)
|
|
|
NM_017617.5(NOTCH1):c.6881T>C (p.Leu2294Pro)
|
|
|
NM_017617.5(NOTCH1):c.6905C>T (p.Thr2302Ile)
|
|
|
NM_017617.5(NOTCH1):c.691G>A (p.Gly231Ser)
|
rs1247729687
|
|
NM_017617.5(NOTCH1):c.6927G>C (p.Glu2309Asp)
|
|
|
NM_017617.5(NOTCH1):c.6946A>G (p.Ser2316Gly)
|
|
|
NM_017617.5(NOTCH1):c.6983G>A (p.Gly2328Glu)
|
rs1451926227
|
|
NM_017617.5(NOTCH1):c.7000C>T (p.Pro2334Ser)
|
|
|
NM_017617.5(NOTCH1):c.7001C>A (p.Pro2334His)
|
|
|
NM_017617.5(NOTCH1):c.700C>T (p.Arg234Cys)
|
rs567890045
|
|
NM_017617.5(NOTCH1):c.7019C>T (p.Pro2340Leu)
|
|
|
NM_017617.5(NOTCH1):c.7030C>T (p.His2344Tyr)
|
|
|
NM_017617.5(NOTCH1):c.7039G>C (p.Val2347Leu)
|
|
|
NM_017617.5(NOTCH1):c.7040T>C (p.Val2347Ala)
|
|
|
NM_017617.5(NOTCH1):c.7042G>A (p.Gly2348Ser)
|
|
|
NM_017617.5(NOTCH1):c.7124C>T (p.Thr2375Ile)
|
|
|
NM_017617.5(NOTCH1):c.715G>A (p.Val239Ile)
|
|
|
NM_017617.5(NOTCH1):c.7209G>C (p.Gln2403His)
|
rs61751486
|
|
NM_017617.5(NOTCH1):c.7227GCC[3] (p.Pro2415_Gln2416insPro)
|
|
|
NM_017617.5(NOTCH1):c.7231C>T (p.Pro2411Ser)
|
|
|
NM_017617.5(NOTCH1):c.7232CAC[4] (p.Pro2415del)
|
rs762336270
|
|
NM_017617.5(NOTCH1):c.7271C>T (p.Ala2424Val)
|
|
|
NM_017617.5(NOTCH1):c.7324G>C (p.Asp2442His)
|
rs2133315459
|
|
NM_017617.5(NOTCH1):c.7355C>T (p.Ala2452Val)
|
|
|
NM_017617.5(NOTCH1):c.7382G>A (p.Ser2461Asn)
|
|
|
NM_017617.5(NOTCH1):c.7433C>G (p.Ala2478Gly)
|
|
|
NM_017617.5(NOTCH1):c.7438C>T (p.Gln2480Ter)
|
rs1554826355
|
|
NM_017617.5(NOTCH1):c.7475C>T (p.Ser2492Leu)
|
|
|
NM_017617.5(NOTCH1):c.7541C>T (p.Pro2514Leu)
|
rs1564567473
|
|
NM_017617.5(NOTCH1):c.805G>A (p.Gly269Arg)
|
|
|
NM_017617.5(NOTCH1):c.865+2C>T
|
rs1164392989
|
|
NM_017617.5(NOTCH1):c.87G>T (p.Glu29Asp)
|
|
|
NM_017617.5(NOTCH1):c.901C>G (p.Leu301Val)
|
|
|
NM_017617.5(NOTCH1):c.908C>T (p.Pro303Leu)
|
|
|
NM_017617.5(NOTCH1):c.922A>C (p.Asn308His)
|
|
|
NM_017617.5(NOTCH1):c.946C>T (p.His316Tyr)
|
|
|
NM_017617.5(NOTCH1):c.956A>G (p.Tyr319Cys)
|
rs1554730095
|
|
NM_017617.5(NOTCH1):c.959A>G (p.Asn320Ser)
|
|
|
NM_017617.5(NOTCH1):c.985G>A (p.Gly329Ser)
|
|
|
NM_017668.3(NDE1):c.*1155A>G
|
rs886051752
|
|
NM_017668.3(NDE1):c.*1663C>A
|
rs886051754
|
|
NM_017668.3(NDE1):c.*290dup
|
rs886051743
|
|
NM_017668.3(NDE1):c.*630C>G
|
rs2040672480
|
|
NM_017668.3(NDE1):c.*897A>C
|
rs565400287
|
|
NM_017668.3(NDE1):c.*899CA[8]
|
rs34909724
|
|
NM_017668.3(NDE1):c.*919dup
|
rs886051749
|
|
NM_017668.3(NDE1):c.1001C>G (p.Ser334Cys)
|
rs2040631854
|
|
NM_017668.3(NDE1):c.947+11948G>A
|
rs2151173150
|
|
NM_017668.3(NDE1):c.947+6367C>T
|
rs886051728
|
|
NM_017668.3(NDE1):c.947+6469C>A
|
rs573168314
|
|
NM_017668.3(NDE1):c.947+6490G>T
|
rs886051730
|
|
NM_017668.3(NDE1):c.947+6554T>C
|
rs886051731
|
|
NM_017668.3(NDE1):c.947+6612A>G
|
rs886051732
|
|
NM_017668.3(NDE1):c.947+6655_947+6656del
|
rs768695681
|
|
NM_017668.3(NDE1):c.948-3135C>T
|
rs759760029
|
|
NM_017668.3(NDE1):c.948-3356G>T
|
rs142108062
|
|
NM_017668.3(NDE1):c.948-3870G>C
|
rs201567063
|
|
NM_017668.3(NDE1):c.948-3873C>G
|
rs766965358
|
|
NM_017668.3(NDE1):c.948-5750_948-5749delinsAC
|
rs2040287388
|
|
NM_017668.3(NDE1):c.962dup (p.Cys321fs)
|
rs2040628585
|
|
NM_017668.3(NDE1):c.978A>T (p.Lys326Asn)
|
rs2040629877
|
|
NM_017668.3(NDE1):c.992C>T (p.Ser331Leu)
|
rs2040631048
|
|
NM_017668.3(NDE1):c.993G>C (p.Ser331=)
|
rs1171298608
|
|
NM_019055.6(ROBO4):c.1400G>A (p.Arg467Gln)
|
|
|
NM_019055.6(ROBO4):c.1570T>C (p.Trp524Arg)
|
|
|
NM_019055.6(ROBO4):c.1603T>C (p.Ser535Pro)
|
|
|
NM_019055.6(ROBO4):c.1640G>A (p.Arg547Gln)
|
|
|
NM_019055.6(ROBO4):c.1676G>C (p.Arg559Pro)
|
|
|
NM_019055.6(ROBO4):c.2689G>A (p.Asp897Asn)
|
|
|
NM_019055.6(ROBO4):c.656G>A (p.Arg219His)
|
|
|
NM_024817.3(THSD4):c.1343G>A (p.Ser448Asn)
|
|
|
NM_024817.3(THSD4):c.2575G>T (p.Gly859Trp)
|
|
|
NM_024817.3(THSD4):c.25C>G (p.Leu9Val)
|
|
|
NM_024817.3(THSD4):c.578A>C (p.Lys193Thr)
|
|
|
NM_030777.4(SLC2A10):c.1002T>A (p.Asn334Lys)
|
rs377238665
|
|
NM_030777.4(SLC2A10):c.1018G>A (p.Gly340Ser)
|
rs1333501401
|
|
NM_030777.4(SLC2A10):c.1027G>C (p.Gly343Arg)
|
|
|
NM_030777.4(SLC2A10):c.1033T>C (p.Ser345Pro)
|
|
|
NM_030777.4(SLC2A10):c.1048G>C (p.Asp350His)
|
|
|
NM_030777.4(SLC2A10):c.1057C>G (p.Leu353Val)
|
rs200196034
|
|
NM_030777.4(SLC2A10):c.1080T>G (p.Asn360Lys)
|
rs772874942
|
|
NM_030777.4(SLC2A10):c.1093G>A (p.Glu365Lys)
|
|
|
NM_030777.4(SLC2A10):c.1162C>G (p.Arg388Gly)
|
|
|
NM_030777.4(SLC2A10):c.1192C>G (p.Pro398Ala)
|
|
|
NM_030777.4(SLC2A10):c.1252G>A (p.Val418Ile)
|
|
|
NM_030777.4(SLC2A10):c.1292C>A (p.Thr431Asn)
|
|
|
NM_030777.4(SLC2A10):c.1325A>G (p.Glu442Gly)
|
|
|
NM_030777.4(SLC2A10):c.1360T>A (p.Phe454Ile)
|
rs1980003027
|
|
NM_030777.4(SLC2A10):c.1403A>G (p.Asp468Gly)
|
|
|
NM_030777.4(SLC2A10):c.1411+5G>A
|
|
|
NM_030777.4(SLC2A10):c.1420G>A (p.Gly474Ser)
|
|
|
NM_030777.4(SLC2A10):c.152T>C (p.Val51Ala)
|
|
|
NM_030777.4(SLC2A10):c.153G>A (p.Val51=)
|
|
|
NM_030777.4(SLC2A10):c.1546C>T (p.Arg516Trp)
|
|
|
NM_030777.4(SLC2A10):c.1555C>G (p.Leu519Val)
|
|
|
NM_030777.4(SLC2A10):c.1564G>T (p.Gly522Cys)
|
|
|
NM_030777.4(SLC2A10):c.181G>A (p.Ala61Thr)
|
|
|
NM_030777.4(SLC2A10):c.194G>T (p.Gly65Val)
|
|
|
NM_030777.4(SLC2A10):c.251T>C (p.Val84Ala)
|
|
|
NM_030777.4(SLC2A10):c.251T>G (p.Val84Gly)
|
|
|
NM_030777.4(SLC2A10):c.26C>T (p.Pro9Leu)
|
|
|
NM_030777.4(SLC2A10):c.316G>A (p.Ala106Thr)
|
rs6094438
|
|
NM_030777.4(SLC2A10):c.325G>T (p.Gly109Cys)
|
|
|
NM_030777.4(SLC2A10):c.340C>T (p.Leu114Phe)
|
|
|
NM_030777.4(SLC2A10):c.4+6T>A
|
|
|
NM_030777.4(SLC2A10):c.430A>T (p.Thr144Ser)
|
rs748746893
|
|
NM_030777.4(SLC2A10):c.433G>A (p.Val145Met)
|
rs772308135
|
|
NM_030777.4(SLC2A10):c.464A>C (p.Tyr155Ser)
|
rs1015767771
|
|
NM_030777.4(SLC2A10):c.504C>A (p.Phe168Leu)
|
rs540023880
|
|
NM_030777.4(SLC2A10):c.526G>A (p.Val176Ile)
|
|
|
NM_030777.4(SLC2A10):c.547C>T (p.Leu183Phe)
|
|
|
NM_030777.4(SLC2A10):c.566C>T (p.Thr189Ile)
|
|
|
NM_030777.4(SLC2A10):c.590A>G (p.Asp197Gly)
|
rs1158420839
|
|
NM_030777.4(SLC2A10):c.604C>G (p.Gln202Glu)
|
|
|
NM_030777.4(SLC2A10):c.624G>C (p.Lys208Asn)
|
|
|
NM_030777.4(SLC2A10):c.649T>C (p.Ser217Pro)
|
|
|
NM_030777.4(SLC2A10):c.673C>T (p.Arg225Cys)
|
rs199659394
|
|
NM_030777.4(SLC2A10):c.686G>A (p.Arg229Gln)
|
|
|
NM_030777.4(SLC2A10):c.689G>A (p.Gly230Asp)
|
|
|
NM_030777.4(SLC2A10):c.697A>G (p.Thr233Ala)
|
|
|
NM_030777.4(SLC2A10):c.766A>G (p.Thr256Ala)
|
|
|
NM_030777.4(SLC2A10):c.784G>A (p.Gly262Ser)
|
|
|
NM_030777.4(SLC2A10):c.796G>A (p.Gly266Arg)
|
|
|
NM_030777.4(SLC2A10):c.848C>G (p.Ala283Gly)
|
|
|
NM_030777.4(SLC2A10):c.883G>A (p.Gly295Ser)
|
|
|
NM_030777.4(SLC2A10):c.890G>A (p.Arg297Lys)
|
|
|
NM_030777.4(SLC2A10):c.890G>C (p.Arg297Thr)
|
|
|
NM_030777.4(SLC2A10):c.922G>A (p.Ala308Thr)
|
|
|
NM_030777.4(SLC2A10):c.949G>C (p.Val317Leu)
|
rs781230863
|
|
NM_053025.4(MYLK):c.*1031C>A
|
rs886057843
|
|
NM_053025.4(MYLK):c.*1041G>T
|
rs886057842
|
|
NM_053025.4(MYLK):c.*1174_*1177dup
|
rs146691098
|
|
NM_053025.4(MYLK):c.*1254GT[4]
|
rs550448371
|
|
NM_053025.4(MYLK):c.*1526C>A
|
rs886057840
|
|
NM_053025.4(MYLK):c.*1671A>T
|
rs886057838
|
|
NM_053025.4(MYLK):c.*252T>C
|
rs886057854
|
|
NM_053025.4(MYLK):c.*258G>T
|
rs886057853
|
|
NM_053025.4(MYLK):c.*334_*335insAAATGC
|
rs886057852
|
|
NM_053025.4(MYLK):c.*416dup
|
rs886057851
|
|
NM_053025.4(MYLK):c.*524C>A
|
rs886057850
|
|
NM_053025.4(MYLK):c.*713C>A
|
rs886057848
|
|
NM_053025.4(MYLK):c.*76dup
|
rs35930843
|
|
NM_053025.4(MYLK):c.*812C>A
|
rs886057846
|
|
NM_053025.4(MYLK):c.*857_*860dup
|
rs886057845
|
|
NM_053025.4(MYLK):c.1016A>G (p.Gln339Arg)
|
rs2108792544
|
|
NM_053025.4(MYLK):c.1048G>A (p.Ala350Thr)
|
rs532659627
|
|
NM_053025.4(MYLK):c.1060C>T (p.Pro354Ser)
|
|
|
NM_053025.4(MYLK):c.1072G>A (p.Ala358Thr)
|
|
|
NM_053025.4(MYLK):c.1085G>A (p.Gly362Glu)
|
|
|
NM_053025.4(MYLK):c.1120C>T (p.Pro374Ser)
|
rs1553822427
|
|
NM_053025.4(MYLK):c.1123G>A (p.Ala375Thr)
|
rs374894375
|
|
NM_053025.4(MYLK):c.1141A>G (p.Thr381Ala)
|
|
|
NM_053025.4(MYLK):c.1178A>G (p.Asp393Gly)
|
|
|
NM_053025.4(MYLK):c.1179TGT[1] (p.Val395del)
|
rs771815695
|
|
NM_053025.4(MYLK):c.1206A>T (p.Arg402Ser)
|
rs908614111
|
|
NM_053025.4(MYLK):c.1211C>T (p.Pro404Leu)
|
|
|
NM_053025.4(MYLK):c.1223A>G (p.Gln408Arg)
|
|
|
NM_053025.4(MYLK):c.1235C>T (p.Ala412Val)
|
|
|
NM_053025.4(MYLK):c.123C>A (p.Asn41Lys)
|
rs886057866
|
|
NM_053025.4(MYLK):c.1297T>C (p.Phe433Leu)
|
rs886057864
|
|
NM_053025.4(MYLK):c.1327C>A (p.Pro443Thr)
|
rs35156360
|
|
NM_053025.4(MYLK):c.1348_1356delinsTCT (p.Glu450_Thr452delinsSer)
|
rs1064792964
|
|
NM_053025.4(MYLK):c.1382T>C (p.Ile461Thr)
|
|
|
NM_053025.4(MYLK):c.1390T>G (p.Tyr464Asp)
|
|
|
NM_053025.4(MYLK):c.1403G>A (p.Gly468Asp)
|
|
|
NM_053025.4(MYLK):c.1441G>T (p.Asp481Tyr)
|
|
|
NM_053025.4(MYLK):c.1462A>C (p.Thr488Pro)
|
|
|
NM_053025.4(MYLK):c.1480G>T (p.Gly494Cys)
|
|
|
NM_053025.4(MYLK):c.1481G>C (p.Gly494Ala)
|
rs1052992526
|
|
NM_053025.4(MYLK):c.1538C>T (p.Ala513Val)
|
|
|
NM_053025.4(MYLK):c.1586A>G (p.Gln529Arg)
|
|
|
NM_053025.4(MYLK):c.1607C>G (p.Ser536Cys)
|
|
|
NM_053025.4(MYLK):c.1625T>C (p.Val542Ala)
|
|
|
NM_053025.4(MYLK):c.1631G>C (p.Arg544Pro)
|
|
|
NM_053025.4(MYLK):c.1641G>C (p.Trp547Cys)
|
|
|
NM_053025.4(MYLK):c.164G>A (p.Arg55Gln)
|
rs768984022
|
|
NM_053025.4(MYLK):c.1651G>A (p.Gly551Arg)
|
|
|
NM_053025.4(MYLK):c.165G>A (p.Arg55=)
|
rs749471860
|
|
NM_053025.4(MYLK):c.1670C>T (p.Ala557Val)
|
|
|
NM_053025.4(MYLK):c.1673G>C (p.Arg558Pro)
|
|
|
NM_053025.4(MYLK):c.1690G>C (p.Gly564Arg)
|
|
|
NM_053025.4(MYLK):c.170G>A (p.Arg57Gln)
|
|
|
NM_053025.4(MYLK):c.1726G>A (p.Glu576Lys)
|
rs2062115226
|
|
NM_053025.4(MYLK):c.1758G>C (p.Glu586Asp)
|
|
|
NM_053025.4(MYLK):c.179C>T (p.Pro60Leu)
|
rs1060502532
|
|
NM_053025.4(MYLK):c.17T>C (p.Leu6Pro)
|
rs2109106403
|
|
NM_053025.4(MYLK):c.1802A>C (p.His601Pro)
|
rs45477891
|
|
NM_053025.4(MYLK):c.1843G>A (p.Val615Met)
|
|
|
NM_053025.4(MYLK):c.184C>G (p.Pro62Ala)
|
|
|
NM_053025.4(MYLK):c.1875C>G (p.Phe625Leu)
|
|
|
NM_053025.4(MYLK):c.1885C>T (p.Leu629Phe)
|
|
|
NM_053025.4(MYLK):c.1942+6T>C
|
rs2061616966
|
|
NM_053025.4(MYLK):c.1948C>T (p.Pro650Ser)
|
|
|
NM_053025.4(MYLK):c.1954C>T (p.Pro652Ser)
|
|
|
NM_053025.4(MYLK):c.1955C>T (p.Pro652Leu)
|
|
|
NM_053025.4(MYLK):c.1997C>T (p.Ser666Leu)
|
rs2061566265
|
|
NM_053025.4(MYLK):c.2053G>A (p.Val685Met)
|
|
|
NM_053025.4(MYLK):c.2060C>G (p.Pro687Arg)
|
rs144923036
|
|
NM_053025.4(MYLK):c.2080A>C (p.Thr694Pro)
|
|
|
NM_053025.4(MYLK):c.2081C>A (p.Thr694Asn)
|
|
|
NM_053025.4(MYLK):c.209G>A (p.Gly70Glu)
|
|
|
NM_053025.4(MYLK):c.2105G>A (p.Gly702Glu)
|
rs759950113
|
|
NM_053025.4(MYLK):c.2108A>T (p.Glu703Val)
|
|
|
NM_053025.4(MYLK):c.2110G>A (p.Val704Ile)
|
|
|
NM_053025.4(MYLK):c.2125G>C (p.Val709Leu)
|
|
|
NM_053025.4(MYLK):c.2149G>A (p.Asp717Asn)
|
rs150936840
|
|
NM_053025.4(MYLK):c.2231T>C (p.Ile744Thr)
|
|
|
NM_053025.4(MYLK):c.2262G>C (p.Trp754Cys)
|
|
|
NM_053025.4(MYLK):c.230G>A (p.Gly77Asp)
|
|
|
NM_053025.4(MYLK):c.2318A>G (p.Asn773Ser)
|
|
|
NM_053025.4(MYLK):c.232C>G (p.Arg78Gly)
|
|
|
NM_053025.4(MYLK):c.232C>T (p.Arg78Cys)
|
|
|
NM_053025.4(MYLK):c.2350G>T (p.Val784Leu)
|
|
|
NM_053025.4(MYLK):c.23C>T (p.Ala8Val)
|
|
|
NM_053025.4(MYLK):c.2417A>G (p.Gln806Arg)
|
|
|
NM_053025.4(MYLK):c.2429T>A (p.Met810Lys)
|
rs1553805024
|
|
NM_053025.4(MYLK):c.2453C>T (p.Ala818Val)
|
|
|
NM_053025.4(MYLK):c.2521G>A (p.Gly841Ser)
|
|
|
NM_053025.4(MYLK):c.2534G>C (p.Arg845Pro)
|
|
|
NM_053025.4(MYLK):c.2551C>T (p.Pro851Ser)
|
|
|
NM_053025.4(MYLK):c.2564C>T (p.Ala855Val)
|
rs886057863
|
|
NM_053025.4(MYLK):c.2597G>A (p.Gly866Asp)
|
|
|
NM_053025.4(MYLK):c.2609G>A (p.Arg870Gln)
|
|
|
NM_053025.4(MYLK):c.2626C>A (p.Arg876Ser)
|
rs369503342
|
|
NM_053025.4(MYLK):c.2654A>C (p.Glu885Ala)
|
|
|
NM_053025.4(MYLK):c.2681A>G (p.Gln894Arg)
|
|
|
NM_053025.4(MYLK):c.2690T>C (p.Phe897Ser)
|
|
|
NM_053025.4(MYLK):c.2697C>A (p.Asp899Glu)
|
|
|
NM_053025.4(MYLK):c.269G>A (p.Ser90Asn)
|
|
|
NM_053025.4(MYLK):c.2725A>T (p.Thr909Ser)
|
|
|
NM_053025.4(MYLK):c.272T>C (p.Leu91Pro)
|
|
|
NM_053025.4(MYLK):c.2731T>C (p.Ser911Pro)
|
|
|
NM_053025.4(MYLK):c.2740G>A (p.Asp914Asn)
|
rs561148360
|
|
NM_053025.4(MYLK):c.2740G>C (p.Asp914His)
|
rs561148360
|
|
NM_053025.4(MYLK):c.2740G>T (p.Asp914Tyr)
|
rs561148360
|
|
NM_053025.4(MYLK):c.2791_2792delinsAT (p.Arg931Met)
|
rs1553803967
|
|
NM_053025.4(MYLK):c.2792G>T (p.Arg931Leu)
|
|
|
NM_053025.4(MYLK):c.2829G>T (p.Arg943Ser)
|
rs886057861
|
|
NM_053025.4(MYLK):c.2838C>G (p.His946Gln)
|
rs1200981327
|
|
NM_053025.4(MYLK):c.2849A>C (p.Gln950Pro)
|
rs200536833
|
|
NM_053025.4(MYLK):c.2849A>G (p.Gln950Arg)
|
|
|
NM_053025.4(MYLK):c.2854G>A (p.Asp952Asn)
|
rs971096950
|
|
NM_053025.4(MYLK):c.2866G>A (p.Val956Ile)
|
|
|
NM_053025.4(MYLK):c.290A>C (p.His97Pro)
|
rs756800370
|
|
NM_053025.4(MYLK):c.2911G>C (p.Val971Leu)
|
|
|
NM_053025.4(MYLK):c.2975C>G (p.Pro992Arg)
|
|
|
NM_053025.4(MYLK):c.2984A>T (p.Asn995Ile)
|
|
|
NM_053025.4(MYLK):c.305G>T (p.Gly102Val)
|
rs758300915
|
|
NM_053025.4(MYLK):c.3083A>G (p.Asn1028Ser)
|
|
|
NM_053025.4(MYLK):c.3091C>T (p.Pro1031Ser)
|
|
|
NM_053025.4(MYLK):c.3096_3131del (p.1032_1043AETLKPMGNAKP[1])
|
rs758966808
|
|
NM_053025.4(MYLK):c.3096_3131dup (p.1032_1043AETLKPMGNAKP[3])
|
rs758966808
|
|
NM_053025.4(MYLK):c.3130G>C (p.Ala1044Pro)
|
|
|
NM_053025.4(MYLK):c.3134A>G (p.Glu1045Gly)
|
|
|
NM_053025.4(MYLK):c.3149T>C (p.Met1050Thr)
|
|
|
NM_053025.4(MYLK):c.3221A>T (p.Asp1074Val)
|
|
|
NM_053025.4(MYLK):c.3277_3278del (p.Ser1093fs)
|
rs1553803217
|
|
NM_053025.4(MYLK):c.3285del (p.Thr1096fs)
|
|
|
NM_053025.4(MYLK):c.3289G>A (p.Ala1097Thr)
|
|
|
NM_053025.4(MYLK):c.329A>G (p.Asn110Ser)
|
|
|
NM_053025.4(MYLK):c.3319G>A (p.Val1107Ile)
|
|
|
NM_053025.4(MYLK):c.3339G>C (p.Lys1113Asn)
|
|
|
NM_053025.4(MYLK):c.3343C>G (p.Leu1115Val)
|
|
|
NM_053025.4(MYLK):c.33C>A (p.His11Gln)
|
|
|
NM_053025.4(MYLK):c.344G>T (p.Arg115Leu)
|
|
|
NM_053025.4(MYLK):c.3458G>A (p.Cys1153Tyr)
|
|
|
NM_053025.4(MYLK):c.3463G>T (p.Val1155Phe)
|
|
|
NM_053025.4(MYLK):c.3511G>A (p.Val1171Ile)
|
|
|
NM_053025.4(MYLK):c.3526G>A (p.Ala1176Thr)
|
rs758839208
|
|
NM_053025.4(MYLK):c.3559G>A (p.Val1187Met)
|
|
|
NM_053025.4(MYLK):c.355G>A (p.Val119Met)
|
|
|
NM_053025.4(MYLK):c.3565+4G>A
|
|
|
NM_053025.4(MYLK):c.3565+7C>T
|
rs768638357
|
|
NM_053025.4(MYLK):c.3569C>T (p.Ala1190Val)
|
|
|
NM_053025.4(MYLK):c.356T>C (p.Val119Ala)
|
|
|
NM_053025.4(MYLK):c.3578G>T (p.Ser1193Ile)
|
|
|
NM_053025.4(MYLK):c.3584A>G (p.Asn1195Ser)
|
|
|
NM_053025.4(MYLK):c.3598G>A (p.Glu1200Lys)
|
rs2108456120
|
|
NM_053025.4(MYLK):c.3637G>A (p.Val1213Met)
|
rs368390254
|
|
NM_053025.4(MYLK):c.3637G>C (p.Val1213Leu)
|
rs368390254
|
|
NM_053025.4(MYLK):c.3653-2A>G
|
|
|
NM_053025.4(MYLK):c.3704-3C>G
|
|
|
NM_053025.4(MYLK):c.3751G>A (p.Ala1251Thr)
|
|
|
NM_053025.4(MYLK):c.3755G>A (p.Gly1252Glu)
|
rs886039046
|
|
NM_053025.4(MYLK):c.3805T>C (p.Cys1269Arg)
|
rs750286831
|
|
NM_053025.4(MYLK):c.3831+5G>A
|
rs1198605932
|
|
NM_053025.4(MYLK):c.3863A>G (p.Asn1288Ser)
|
rs1576474081
|
|
NM_053025.4(MYLK):c.3868G>C (p.Glu1290Gln)
|
|
|
NM_053025.4(MYLK):c.3893T>C (p.Leu1298Pro)
|
|
|
NM_053025.4(MYLK):c.389A>C (p.Gln130Pro)
|
|
|
NM_053025.4(MYLK):c.3902G>A (p.Arg1301His)
|
rs770980369
|
|
NM_053025.4(MYLK):c.3902G>T (p.Arg1301Leu)
|
|
|
NM_053025.4(MYLK):c.390G>C (p.Gln130His)
|
|
|
NM_053025.4(MYLK):c.3910C>A (p.His1304Asn)
|
rs758161864
|
|
NM_053025.4(MYLK):c.3917G>C (p.Gly1306Ala)
|
|
|
NM_053025.4(MYLK):c.3927_3929del (p.Leu1311del)
|
|
|
NM_053025.4(MYLK):c.3966G>C (p.Gln1322His)
|
rs2108323798
|
|
NM_053025.4(MYLK):c.3976A>G (p.Thr1326Ala)
|
|
|
NM_053025.4(MYLK):c.3986-1G>A
|
|
|
NM_053025.4(MYLK):c.3995A>T (p.Asp1332Val)
|
|
|
NM_053025.4(MYLK):c.4013C>G (p.Pro1338Arg)
|
|
|
NM_053025.4(MYLK):c.4055G>T (p.Trp1352Leu)
|
rs2059420831
|
|
NM_053025.4(MYLK):c.4066T>C (p.Ser1356Pro)
|
|
|
NM_053025.4(MYLK):c.4070A>G (p.Tyr1357Cys)
|
|
|
NM_053025.4(MYLK):c.4074T>A (p.Asp1358Glu)
|
|
|
NM_053025.4(MYLK):c.4082G>A (p.Ser1361Asn)
|
rs886039143
|
|
NM_053025.4(MYLK):c.4109T>C (p.Ile1370Thr)
|
|
|
NM_053025.4(MYLK):c.4225G>A (p.Val1409Met)
|
rs751056847
|
|
NM_053025.4(MYLK):c.423-8C>T
|
rs751696363
|
|
NM_053025.4(MYLK):c.4276G>C (p.Glu1426Gln)
|
|
|
NM_053025.4(MYLK):c.4291C>A (p.Pro1431Thr)
|
|
|
NM_053025.4(MYLK):c.4352C>T (p.Thr1451Ile)
|
rs2059118422
|
|
NM_053025.4(MYLK):c.4361T>A (p.Ile1454Asn)
|
|
|
NM_053025.4(MYLK):c.4367C>A (p.Thr1456Asn)
|
rs1553781315
|
|
NM_053025.4(MYLK):c.4369G>A (p.Glu1457Lys)
|
rs1018778128
|
|
NM_053025.4(MYLK):c.4385A>G (p.Asp1462Gly)
|
|
|
NM_053025.4(MYLK):c.4455A>C (p.Lys1485Asn)
|
rs941766411
|
|
NM_053025.4(MYLK):c.4504G>A (p.Glu1502Lys)
|
|
|
NM_053025.4(MYLK):c.4532G>C (p.Ser1511Thr)
|
|
|
NM_053025.4(MYLK):c.454C>A (p.Arg152Ser)
|
rs559933360
|
|
NM_053025.4(MYLK):c.4550A>T (p.His1517Leu)
|
|
|
NM_053025.4(MYLK):c.4568A>G (p.Gln1523Arg)
|
|
|
NM_053025.4(MYLK):c.4645C>T (p.Arg1549Cys)
|
rs886039186
|
|
NM_053025.4(MYLK):c.4659G>T (p.Glu1553Asp)
|
|
|
NM_053025.4(MYLK):c.4678C>T (p.Arg1560Cys)
|
|
|
NM_053025.4(MYLK):c.467G>T (p.Trp156Leu)
|
|
|
NM_053025.4(MYLK):c.4699C>T (p.Arg1567Trp)
|
rs1347636672
|
|
NM_053025.4(MYLK):c.4715G>A (p.Gly1572Glu)
|
rs1060502534
|
|
NM_053025.4(MYLK):c.4720G>A (p.Glu1574Lys)
|
|
|
NM_053025.4(MYLK):c.4807C>G (p.Leu1603Val)
|
|
|
NM_053025.4(MYLK):c.4849T>C (p.Ser1617Pro)
|
|
|
NM_053025.4(MYLK):c.4869C>T (p.Gly1623=)
|
|
|
NM_053025.4(MYLK):c.4915G>C (p.Gly1639Arg)
|
rs143900788
|
|
NM_053025.4(MYLK):c.4921G>A (p.Ala1641Thr)
|
|
|
NM_053025.4(MYLK):c.4963G>A (p.Val1655Ile)
|
|
|
NM_053025.4(MYLK):c.4996G>A (p.Asp1666Asn)
|
|
|
NM_053025.4(MYLK):c.5002G>A (p.Glu1668Lys)
|
|
|
NM_053025.4(MYLK):c.5017G>A (p.Val1673Ile)
|
|
|
NM_053025.4(MYLK):c.5041G>A (p.Asp1681Asn)
|
|
|
NM_053025.4(MYLK):c.5108A>C (p.Asp1703Ala)
|
rs763359005
|
|
NM_053025.4(MYLK):c.5114+7A>G
|
rs1553774672
|
|
NM_053025.4(MYLK):c.5120G>A (p.Arg1707His)
|
rs1328179065
|
|
NM_053025.4(MYLK):c.5132C>G (p.Thr1711Arg)
|
rs374662467
|
|
NM_053025.4(MYLK):c.5138G>A (p.Cys1713Tyr)
|
|
|
NM_053025.4(MYLK):c.5213A>G (p.Lys1738Arg)
|
|
|
NM_053025.4(MYLK):c.523G>A (p.Gly175Arg)
|
rs2062771575
|
|
NM_053025.4(MYLK):c.5243C>T (p.Thr1748Met)
|
|
|
NM_053025.4(MYLK):c.52A>G (p.Ser18Gly)
|
|
|
NM_053025.4(MYLK):c.5323G>C (p.Gly1775Arg)
|
|
|
NM_053025.4(MYLK):c.5368G>A (p.Glu1790Lys)
|
|
|
NM_053025.4(MYLK):c.536G>C (p.Arg179Pro)
|
|
|
NM_053025.4(MYLK):c.5402C>T (p.Ala1801Val)
|
|
|
NM_053025.4(MYLK):c.5412G>T (p.Lys1804Asn)
|
rs139045748
|
|
NM_053025.4(MYLK):c.5426C>G (p.Pro1809Arg)
|
rs1553770523
|
|
NM_053025.4(MYLK):c.5501G>C (p.Gly1834Ala)
|
|
|
NM_053025.4(MYLK):c.5510A>C (p.Asp1837Ala)
|
rs918643720
|
|
NM_053025.4(MYLK):c.5513C>T (p.Pro1838Leu)
|
|
|
NM_053025.4(MYLK):c.5529C>A (p.Phe1843Leu)
|
rs1559957766
|
|
NM_053025.4(MYLK):c.5535T>G (p.Asp1845Glu)
|
|
|
NM_053025.4(MYLK):c.5605A>G (p.Ile1869Val)
|
|
|
NM_053025.4(MYLK):c.5625T>G (p.Asp1875Glu)
|
|
|
NM_053025.4(MYLK):c.5629G>T (p.Asp1877Tyr)
|
|
|
NM_053025.4(MYLK):c.562C>A (p.Pro188Thr)
|
|
|
NM_053025.4(MYLK):c.5642C>T (p.Thr1881Ile)
|
|
|
NM_053025.4(MYLK):c.5675C>G (p.Thr1892Ser)
|
|
|
NM_053025.4(MYLK):c.5695G>A (p.Val1899Met)
|
rs1553768575
|
|
NM_053025.4(MYLK):c.5706G>A (p.Met1902Ile)
|
rs1194619668
|
|
NM_053025.4(MYLK):c.5709G>C (p.Glu1903Asp)
|
|
|
NM_053025.4(MYLK):c.5732A>T (p.Glu1911Val)
|
|
|
NM_053025.4(MYLK):c.587A>C (p.Lys196Thr)
|
|
|
NM_053025.4(MYLK):c.588+13_588+16del
|
rs570821069
|
|
NM_053025.4(MYLK):c.608C>A (p.Pro203Gln)
|
rs772426809
|
|
NM_053025.4(MYLK):c.617G>A (p.Arg206His)
|
|
|
NM_053025.4(MYLK):c.620T>C (p.Val207Ala)
|
|
|
NM_053025.4(MYLK):c.626T>G (p.Val209Gly)
|
|
|
NM_053025.4(MYLK):c.640G>A (p.Gly214Ser)
|
|
|
NM_053025.4(MYLK):c.646C>G (p.Gln216Glu)
|
|
|
NM_053025.4(MYLK):c.649G>T (p.Val217Phe)
|
rs1553824777
|
|
NM_053025.4(MYLK):c.667G>T (p.Val223Phe)
|
|
|
NM_053025.4(MYLK):c.70G>T (p.Val24Phe)
|
|
|
NM_053025.4(MYLK):c.728C>T (p.Ser243Leu)
|
rs202126043
|
|
NM_053025.4(MYLK):c.758T>C (p.Leu253Ser)
|
|
|
NM_053025.4(MYLK):c.773+10G>A
|
rs747893112
|
|
NM_053025.4(MYLK):c.7G>T (p.Asp3Tyr)
|
rs2064882893
|
|
NM_053025.4(MYLK):c.811G>T (p.Val271Phe)
|
|
|
NM_053025.4(MYLK):c.835A>C (p.Ile279Leu)
|
|
|
NM_053025.4(MYLK):c.839C>G (p.Ser280Ter)
|
|
|
NM_053025.4(MYLK):c.83C>G (p.Pro28Arg)
|
|
|
NM_053025.4(MYLK):c.852G>T (p.Lys284Asn)
|
|
|
NM_053025.4(MYLK):c.883A>G (p.Lys295Glu)
|
|
|
NM_053025.4(MYLK):c.916C>G (p.Pro306Ala)
|
|
|
NM_053025.4(MYLK):c.932A>G (p.Asn311Ser)
|
|
|
NM_053025.4(MYLK):c.992C>T (p.Thr331Met)
|
rs371825849
|
|
NM_080473.5(GATA5):c.143G>T (p.Gly48Val)
|
rs869025434
|
|
Single allele
|
|
|