ClinVar Miner

List of variants reported as uncertain significance for Familial thoracic aortic aneurysm and aortic dissection

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ClinVar version:
Total variants: 6784
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HGVS dbSNP gnomAD frequency
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

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