NM_212482.4(FN1):c.4486C>T (p.Arg1496Trp)
|
rs139078629
|
0.00542
|
NM_212482.4(FN1):c.5435-7T>C
|
rs202045892
|
0.00068
|
NM_212482.4(FN1):c.3062G>A (p.Arg1021Gln)
|
rs139603893
|
0.00021
|
NM_212482.4(FN1):c.2879C>G (p.Thr960Ser)
|
rs565714281
|
0.00011
|
NM_212482.4(FN1):c.1808A>G (p.Gln603Arg)
|
rs200304359
|
0.00010
|
NM_212482.4(FN1):c.3020A>G (p.Asn1007Ser)
|
rs145838840
|
0.00010
|
NM_212482.4(FN1):c.869G>A (p.Arg290His)
|
rs150990682
|
0.00010
|
NM_212482.4(FN1):c.5741C>A (p.Thr1914Lys)
|
rs765428225
|
0.00009
|
NM_212482.4(FN1):c.1871A>G (p.Asn624Ser)
|
rs199764052
|
0.00007
|
NM_212482.4(FN1):c.3415G>A (p.Val1139Ile)
|
rs201181695
|
0.00007
|
NM_212482.4(FN1):c.3945T>G (p.Phe1315Leu)
|
rs368426539
|
0.00007
|
NM_212482.4(FN1):c.3289G>A (p.Glu1097Lys)
|
rs753807100
|
0.00006
|
NM_212482.4(FN1):c.5482A>G (p.Ser1828Gly)
|
rs199941833
|
0.00006
|
NM_212482.4(FN1):c.5818G>A (p.Val1940Ile)
|
rs780172775
|
0.00006
|
NM_212482.4(FN1):c.6157+4T>C
|
rs779209474
|
0.00006
|
NM_212482.4(FN1):c.6503C>T (p.Pro2168Leu)
|
rs749306234
|
0.00006
|
NM_212482.4(FN1):c.6121C>T (p.Arg2041Trp)
|
rs376754454
|
0.00005
|
NM_212482.4(FN1):c.833C>G (p.Thr278Ser)
|
rs368428323
|
0.00005
|
NM_212482.4(FN1):c.2717C>T (p.Thr906Ile)
|
rs370342980
|
0.00004
|
NM_212482.4(FN1):c.3386G>A (p.Arg1129Gln)
|
rs752850439
|
0.00004
|
NM_212482.4(FN1):c.3866C>T (p.Pro1289Leu)
|
rs751026014
|
0.00004
|
NM_212482.4(FN1):c.3910G>A (p.Ala1304Thr)
|
rs375301501
|
0.00004
|
NM_212482.4(FN1):c.3968A>G (p.Tyr1323Cys)
|
rs200891393
|
0.00004
|
NM_212482.4(FN1):c.4879A>G (p.Ile1627Val)
|
rs370180533
|
0.00004
|
NM_212482.4(FN1):c.6784A>G (p.Ile2262Val)
|
rs1330217896
|
0.00004
|
NM_212482.4(FN1):c.1757A>G (p.Gln586Arg)
|
rs138219703
|
0.00003
|
NM_212482.4(FN1):c.2848C>T (p.His950Tyr)
|
rs746529288
|
0.00003
|
NM_212482.4(FN1):c.4858G>A (p.Ala1620Thr)
|
rs766780476
|
0.00003
|
NM_212482.4(FN1):c.5035A>G (p.Lys1679Glu)
|
rs376728271
|
0.00003
|
NM_212482.4(FN1):c.514A>G (p.Asn172Asp)
|
rs187465805
|
0.00003
|
NM_212482.4(FN1):c.5237C>T (p.Pro1746Leu)
|
rs923283804
|
0.00003
|
NM_212482.4(FN1):c.2112A>G (p.Thr704=)
|
rs1326049626
|
0.00002
|
NM_212482.4(FN1):c.4576G>A (p.Glu1526Lys)
|
rs762667601
|
0.00002
|
NM_212482.4(FN1):c.4817C>A (p.Thr1606Asn)
|
rs769644869
|
0.00002
|
NM_212482.4(FN1):c.5624T>A (p.Val1875Glu)
|
rs746188265
|
0.00002
|
NM_212482.4(FN1):c.5792C>T (p.Thr1931Met)
|
rs771607192
|
0.00002
|
NM_212482.4(FN1):c.587T>A (p.Val196Glu)
|
rs758442993
|
0.00002
|
NM_212482.4(FN1):c.592G>A (p.Gly198Arg)
|
rs561607931
|
0.00002
|
NM_212482.4(FN1):c.6308A>G (p.Asp2103Gly)
|
rs376006995
|
0.00002
|
NM_212482.4(FN1):c.790G>A (p.Gly264Ser)
|
rs950443871
|
0.00002
|
NM_212482.4(FN1):c.907C>T (p.Pro303Ser)
|
rs750138959
|
0.00002
|
NM_212482.4(FN1):c.125C>T (p.Pro42Leu)
|
rs751234033
|
0.00001
|
NM_212482.4(FN1):c.148+3G>A
|
rs370340259
|
0.00001
|
NM_212482.4(FN1):c.1544G>A (p.Arg515Gln)
|
rs376696206
|
0.00001
|
NM_212482.4(FN1):c.2075T>A (p.Val692Glu)
|
rs1418810723
|
0.00001
|
NM_212482.4(FN1):c.2081G>A (p.Arg694His)
|
rs1256920142
|
0.00001
|
NM_212482.4(FN1):c.2105C>T (p.Thr702Ile)
|
rs2062355120
|
0.00001
|
NM_212482.4(FN1):c.2135C>T (p.Thr712Ile)
|
rs776191277
|
0.00001
|
NM_212482.4(FN1):c.2243C>T (p.Ser748Leu)
|
rs766013525
|
0.00001
|
NM_212482.4(FN1):c.2429C>T (p.Ala810Val)
|
rs568343071
|
0.00001
|
NM_212482.4(FN1):c.2761G>A (p.Val921Met)
|
rs1233932664
|
0.00001
|
NM_212482.4(FN1):c.2834A>G (p.Asn945Ser)
|
rs570177360
|
0.00001
|
NM_212482.4(FN1):c.2938G>A (p.Val980Met)
|
rs1409849102
|
0.00001
|
NM_212482.4(FN1):c.3142G>C (p.Val1048Leu)
|
rs2061523342
|
0.00001
|
NM_212482.4(FN1):c.3143T>C (p.Val1048Ala)
|
rs1433400331
|
0.00001
|
NM_212482.4(FN1):c.3271A>G (p.Ile1091Val)
|
rs80101897
|
0.00001
|
NM_212482.4(FN1):c.3690C>A (p.Ser1230Arg)
|
rs144652143
|
0.00001
|
NM_212482.4(FN1):c.3887T>C (p.Ile1296Thr)
|
rs780445850
|
0.00001
|
NM_212482.4(FN1):c.3951C>T (p.Asp1317=)
|
rs763439987
|
0.00001
|
NM_212482.4(FN1):c.3959T>C (p.Val1320Ala)
|
rs770129874
|
0.00001
|
NM_212482.4(FN1):c.4052C>T (p.Thr1351Ile)
|
rs920069022
|
0.00001
|
NM_212482.4(FN1):c.4060C>A (p.Gln1354Lys)
|
rs746652738
|
0.00001
|
NM_212482.4(FN1):c.414A>G (p.Ala138=)
|
rs368265641
|
0.00001
|
NM_212482.4(FN1):c.4520C>T (p.Thr1507Ile)
|
rs1276858220
|
0.00001
|
NM_212482.4(FN1):c.4558G>A (p.Val1520Ile)
|
rs201469351
|
0.00001
|
NM_212482.4(FN1):c.4586C>G (p.Pro1529Arg)
|
rs760993609
|
0.00001
|
NM_212482.4(FN1):c.4720G>A (p.Gly1574Arg)
|
rs764285223
|
0.00001
|
NM_212482.4(FN1):c.4976_4977del (p.Pro1659fs)
|
rs776001460
|
0.00001
|
NM_212482.4(FN1):c.5174G>A (p.Arg1725His)
|
rs755148527
|
0.00001
|
NM_212482.4(FN1):c.5602G>A (p.Val1868Met)
|
rs369072643
|
0.00001
|
NM_212482.4(FN1):c.5659A>G (p.Lys1887Glu)
|
rs145946514
|
0.00001
|
NM_212482.4(FN1):c.604G>A (p.Glu202Lys)
|
rs762827742
|
0.00001
|
NM_212482.4(FN1):c.6220G>A (p.Glu2074Lys)
|
rs1179757867
|
0.00001
|
NM_212482.4(FN1):c.6284A>G (p.Asn2095Ser)
|
rs1253945360
|
0.00001
|
NM_212482.4(FN1):c.6467C>T (p.Thr2156Met)
|
rs147481936
|
0.00001
|
NM_212482.4(FN1):c.6547G>T (p.Glu2183Ter)
|
rs754396418
|
0.00001
|
NM_212482.4(FN1):c.6655G>A (p.Asp2219Asn)
|
rs1240774793
|
0.00001
|
NM_212482.4(FN1):c.665G>A (p.Arg222His)
|
rs778971356
|
0.00001
|
NM_212482.4(FN1):c.6769G>C (p.Ala2257Pro)
|
rs909823419
|
0.00001
|
NM_212482.4(FN1):c.6815A>G (p.His2272Arg)
|
rs1449572655
|
0.00001
|
NM_212482.4(FN1):c.712A>T (p.Thr238Ser)
|
rs1271066449
|
0.00001
|
NM_212482.4(FN1):c.746A>C (p.Lys249Thr)
|
rs1436052369
|
0.00001
|
NM_212482.4(FN1):c.749A>C (p.Asp250Ala)
|
rs372163398
|
0.00001
|
NM_212482.4(FN1):c.755G>A (p.Arg252Gln)
|
rs768600288
|
0.00001
|
NM_212482.4(FN1):c.860C>T (p.Thr287Ile)
|
rs370666158
|
0.00001
|
NM_212482.4(FN1):c.864T>G (p.Asp288Glu)
|
rs759729263
|
0.00001
|
NM_212482.4(FN1):c.872C>A (p.Ala291Glu)
|
rs747310742
|
0.00001
|
NC_000002.11:g.(?_216226278)_(216232770_?)dup
|
|
|
NC_000002.11:g.(?_216226278)_(216300525_?)dup
|
|
|
NM_212482.4(FN1):c.1022G>C (p.Ser341Thr)
|
|
|
NM_212482.4(FN1):c.1033A>G (p.Thr345Ala)
|
rs2106449592
|
|
NM_212482.4(FN1):c.1036+5G>A
|
|
|
NM_212482.4(FN1):c.136A>G (p.Ser46Gly)
|
|
|
NM_212482.4(FN1):c.1401G>C (p.Glu467Asp)
|
|
|
NM_212482.4(FN1):c.1418A>G (p.Asn473Ser)
|
|
|
NM_212482.4(FN1):c.1421A>C (p.Glu474Ala)
|
|
|
NM_212482.4(FN1):c.143G>A (p.Ser48Asn)
|
|
|
NM_212482.4(FN1):c.1462C>A (p.His488Asn)
|
|
|
NM_212482.4(FN1):c.1468A>G (p.Met490Val)
|
|
|
NM_212482.4(FN1):c.1471G>A (p.Gly491Ser)
|
|
|
NM_212482.4(FN1):c.1471G>C (p.Gly491Arg)
|
|
|
NM_212482.4(FN1):c.1472G>A (p.Gly491Asp)
|
|
|
NM_212482.4(FN1):c.147G>A (p.Lys49=)
|
|
|
NM_212482.4(FN1):c.1481T>C (p.Met494Thr)
|
rs2064511350
|
|
NM_212482.4(FN1):c.1484G>A (p.Arg495Lys)
|
|
|
NM_212482.4(FN1):c.1490C>T (p.Thr497Met)
|
|
|
NM_212482.4(FN1):c.1508G>A (p.Arg503His)
|
|
|
NM_212482.4(FN1):c.1532A>T (p.Tyr511Phe)
|
|
|
NM_212482.4(FN1):c.1676-1G>C
|
rs2106389553
|
|
NM_212482.4(FN1):c.1685A>C (p.Gln562Pro)
|
|
|
NM_212482.4(FN1):c.1747G>T (p.Val583Phe)
|
|
|
NM_212482.4(FN1):c.1751G>C (p.Arg584Thr)
|
|
|
NM_212482.4(FN1):c.176A>G (p.Tyr59Cys)
|
|
|
NM_212482.4(FN1):c.176A>T (p.Tyr59Phe)
|
|
|
NM_212482.4(FN1):c.1816C>G (p.Pro606Ala)
|
|
|
NM_212482.4(FN1):c.1844T>A (p.Phe615Tyr)
|
|
|
NM_212482.4(FN1):c.1879C>G (p.Pro627Ala)
|
|
|
NM_212482.4(FN1):c.1886A>G (p.Gln629Arg)
|
|
|
NM_212482.4(FN1):c.1897C>G (p.Pro633Ala)
|
|
|
NM_212482.4(FN1):c.1897C>T (p.Pro633Ser)
|
|
|
NM_212482.4(FN1):c.191A>G (p.Gln64Arg)
|
|
|
NM_212482.4(FN1):c.1927C>T (p.Leu643Phe)
|
|
|
NM_212482.4(FN1):c.1937G>C (p.Arg646Thr)
|
|
|
NM_212482.4(FN1):c.1939C>T (p.Pro647Ser)
|
|
|
NM_212482.4(FN1):c.1941T>G (p.Pro647=)
|
|
|
NM_212482.4(FN1):c.1951G>A (p.Val651Ile)
|
|
|
NM_212482.4(FN1):c.1958G>A (p.Arg653His)
|
|
|
NM_212482.4(FN1):c.1967A>C (p.Glu656Ala)
|
|
|
NM_212482.4(FN1):c.1970C>T (p.Ala657Val)
|
rs1249819296
|
|
NM_212482.4(FN1):c.1975A>G (p.Ile659Val)
|
|
|
NM_212482.4(FN1):c.1977A>G (p.Ile659Met)
|
|
|
NM_212482.4(FN1):c.1997A>T (p.Tyr666Phe)
|
|
|
NM_212482.4(FN1):c.2032G>A (p.Glu678Lys)
|
|
|
NM_212482.4(FN1):c.2044A>G (p.Ile682Val)
|
|
|
NM_212482.4(FN1):c.2049C>G (p.Ser683Arg)
|
|
|
NM_212482.4(FN1):c.2055G>T (p.Gln685His)
|
|
|
NM_212482.4(FN1):c.2059T>C (p.Tyr687His)
|
|
|
NM_212482.4(FN1):c.2120C>T (p.Thr707Ile)
|
|
|
NM_212482.4(FN1):c.2122+4T>C
|
rs761852573
|
|
NM_212482.4(FN1):c.2140G>C (p.Glu714Gln)
|
|
|
NM_212482.4(FN1):c.2152T>G (p.Phe718Val)
|
|
|
NM_212482.4(FN1):c.2179T>C (p.Ser727Pro)
|
|
|
NM_212482.4(FN1):c.218C>T (p.Ala73Val)
|
|
|
NM_212482.4(FN1):c.2212G>A (p.Val738Ile)
|
|
|
NM_212482.4(FN1):c.2231C>T (p.Ser744Phe)
|
|
|
NM_212482.4(FN1):c.2235C>A (p.Asp745Glu)
|
|
|
NM_212482.4(FN1):c.2237C>T (p.Thr746Ile)
|
rs1575641213
|
|
NM_212482.4(FN1):c.2239G>A (p.Val747Met)
|
|
|
NM_212482.4(FN1):c.2299+3A>T
|
rs2062278053
|
|
NM_212482.4(FN1):c.229A>C (p.Thr77Pro)
|
|
|
NM_212482.4(FN1):c.2335G>C (p.Asp779His)
|
|
|
NM_212482.4(FN1):c.2350C>T (p.Arg784Ter)
|
rs2106284837
|
|
NM_212482.4(FN1):c.2360T>C (p.Ile787Thr)
|
|
|
NM_212482.4(FN1):c.2366A>G (p.Asn789Ser)
|
|
|
NM_212482.4(FN1):c.2372A>C (p.Tyr791Ser)
|
|
|
NM_212482.4(FN1):c.2397G>C (p.Gln799His)
|
|
|
NM_212482.4(FN1):c.2403G>C (p.Leu801Phe)
|
|
|
NM_212482.4(FN1):c.2425A>G (p.Thr809Ala)
|
rs2106284421
|
|
NM_212482.4(FN1):c.2428+2T>C
|
rs113668816
|
|
NM_212482.4(FN1):c.2428+4C>T
|
rs756403424
|
|
NM_212482.4(FN1):c.2428+6T>C
|
|
|
NM_212482.4(FN1):c.242G>A (p.Gly81Glu)
|
|
|
NM_212482.4(FN1):c.2442_2443delinsAT (p.Pro815Ser)
|
|
|
NM_212482.4(FN1):c.2449= (p.Thr817=)
|
|
|
NM_212482.4(FN1):c.2449_2450delinsCT (p.Thr817Leu)
|
|
|
NM_212482.4(FN1):c.2465T>C (p.Val822Ala)
|
|
|
NM_212482.4(FN1):c.2482G>A (p.Val828Ile)
|
|
|
NM_212482.4(FN1):c.2485G>A (p.Val829Ile)
|
|
|
NM_212482.4(FN1):c.2489G>A (p.Arg830His)
|
|
|
NM_212482.4(FN1):c.2506G>C (p.Ala836Pro)
|
rs564633358
|
|
NM_212482.4(FN1):c.2506G>T (p.Ala836Ser)
|
|
|
NM_212482.4(FN1):c.2537C>T (p.Ser846Leu)
|
|
|
NM_212482.4(FN1):c.253T>G (p.Phe85Val)
|
|
|
NM_212482.4(FN1):c.2549A>C (p.Glu850Ala)
|
|
|
NM_212482.4(FN1):c.2557A>C (p.Ser853Arg)
|
|
|
NM_212482.4(FN1):c.2587A>G (p.Asn863Asp)
|
|
|
NM_212482.4(FN1):c.2593G>A (p.Val865Ile)
|
|
|
NM_212482.4(FN1):c.2620G>A (p.Val874Ile)
|
|
|
NM_212482.4(FN1):c.2633T>G (p.Ile878Ser)
|
rs2106271062
|
|
NM_212482.4(FN1):c.2642A>G (p.Tyr881Cys)
|
|
|
NM_212482.4(FN1):c.2666G>A (p.Ser889Asn)
|
|
|
NM_212482.4(FN1):c.2686C>T (p.Gln896Ter)
|
|
|
NM_212482.4(FN1):c.2702_2703delinsTT (p.Thr901Ile)
|
rs2106270582
|
|
NM_212482.4(FN1):c.2786C>T (p.Pro929Leu)
|
|
|
NM_212482.4(FN1):c.2791G>A (p.Glu931Lys)
|
|
|
NM_212482.4(FN1):c.2807G>A (p.Gly936Asp)
|
|
|
NM_212482.4(FN1):c.2843G>A (p.Gly948Asp)
|
|
|
NM_212482.4(FN1):c.2844C>T (p.Gly948=)
|
|
|
NM_212482.4(FN1):c.2851G>A (p.Gly951Arg)
|
|
|
NM_212482.4(FN1):c.2866A>G (p.Ile956Val)
|
|
|
NM_212482.4(FN1):c.2879C>A (p.Thr960Asn)
|
|
|
NM_212482.4(FN1):c.2882T>C (p.Phe961Ser)
|
|
|
NM_212482.4(FN1):c.2923T>C (p.Phe975Leu)
|
|
|
NM_212482.4(FN1):c.2926A>G (p.Lys976Glu)
|
|
|
NM_212482.4(FN1):c.3010del (p.Gln1004fs)
|
|
|
NM_212482.4(FN1):c.3026C>A (p.Thr1009Asn)
|
|
|
NM_212482.4(FN1):c.3031T>G (p.Ser1011Ala)
|
|
|
NM_212482.4(FN1):c.3083G>A (p.Arg1028Gln)
|
rs1189574802
|
|
NM_212482.4(FN1):c.3095G>A (p.Gly1032Asp)
|
|
|
NM_212482.4(FN1):c.3104G>A (p.Arg1035Gln)
|
|
|
NM_212482.4(FN1):c.3109G>C (p.Gly1037Arg)
|
rs2106243287
|
|
NM_212482.4(FN1):c.3112C>G (p.Gln1038Glu)
|
|
|
NM_212482.4(FN1):c.3121C>A (p.Gln1041Lys)
|
|
|
NM_212482.4(FN1):c.3125A>G (p.Tyr1042Cys)
|
|
|
NM_212482.4(FN1):c.3149A>C (p.Lys1050Thr)
|
rs144581583
|
|
NM_212482.4(FN1):c.3150G>C (p.Lys1050Asn)
|
rs774454208
|
|
NM_212482.4(FN1):c.3173C>A (p.Pro1058His)
|
|
|
NM_212482.4(FN1):c.3176C>T (p.Ala1059Val)
|
|
|
NM_212482.4(FN1):c.3183G>T (p.Glu1061Asp)
|
|
|
NM_212482.4(FN1):c.3190G>T (p.Val1064Leu)
|
|
|
NM_212482.4(FN1):c.3218A>T (p.Gln1073Leu)
|
|
|
NM_212482.4(FN1):c.3221A>G (p.Glu1074Gly)
|
|
|
NM_212482.4(FN1):c.3253+4A>C
|
|
|
NM_212482.4(FN1):c.3253C>T (p.Leu1085=)
|
|
|
NM_212482.4(FN1):c.3254-4A>T
|
|
|
NM_212482.4(FN1):c.3292G>A (p.Val1098Met)
|
|
|
NM_212482.4(FN1):c.3323C>T (p.Thr1108Met)
|
|
|
NM_212482.4(FN1):c.3347A>G (p.Lys1116Arg)
|
|
|
NM_212482.4(FN1):c.3349-1G>T
|
|
|
NM_212482.4(FN1):c.3359G>A (p.Arg1120Gln)
|
|
|
NM_212482.4(FN1):c.3380C>G (p.Ala1127Gly)
|
|
|
NM_212482.4(FN1):c.3411C>G (p.Ser1137Arg)
|
|
|
NM_212482.4(FN1):c.3442G>A (p.Glu1148Lys)
|
|
|
NM_212482.4(FN1):c.3449T>C (p.Val1150Ala)
|
|
|
NM_212482.4(FN1):c.3452A>G (p.Tyr1151Cys)
|
|
|
NM_212482.4(FN1):c.3479A>G (p.Gln1160Arg)
|
rs768213883
|
|
NM_212482.4(FN1):c.3497T>C (p.Ile1166Thr)
|
|
|
NM_212482.4(FN1):c.3505A>G (p.Lys1169Glu)
|
|
|
NM_212482.4(FN1):c.3517C>T (p.Pro1173Ser)
|
|
|
NM_212482.4(FN1):c.3541C>G (p.His1181Asp)
|
|
|
NM_212482.4(FN1):c.3542A>T (p.His1181Leu)
|
|
|
NM_212482.4(FN1):c.3551C>T (p.Ala1184Val)
|
|
|
NM_212482.4(FN1):c.3563C>A (p.Thr1188Asn)
|
|
|
NM_212482.4(FN1):c.3602C>T (p.Pro1201Leu)
|
|
|
NM_212482.4(FN1):c.3643G>A (p.Gly1215Ser)
|
|
|
NM_212482.4(FN1):c.3673_3674del (p.Val1225fs)
|
|
|
NM_212482.4(FN1):c.3677A>T (p.His1226Leu)
|
|
|
NM_212482.4(FN1):c.3697A>C (p.Thr1233Pro)
|
rs998969140
|
|
NM_212482.4(FN1):c.3708C>A (p.Asn1236Lys)
|
|
|
NM_212482.4(FN1):c.3716C>G (p.Pro1239Arg)
|
|
|
NM_212482.4(FN1):c.3718G>A (p.Gly1240Ser)
|
|
|
NM_212482.4(FN1):c.371C>A (p.Thr124Asn)
|
|
|
NM_212482.4(FN1):c.3736A>G (p.Ser1246Gly)
|
|
|
NM_212482.4(FN1):c.373T>G (p.Cys125Gly)
|
|
|
NM_212482.4(FN1):c.3748G>A (p.Val1250Ile)
|
|
|
NM_212482.4(FN1):c.376A>G (p.Ile126Val)
|
|
|
NM_212482.4(FN1):c.3793C>T (p.Pro1265Ser)
|
|
|
NM_212482.4(FN1):c.3829G>C (p.Asp1277His)
|
|
|
NM_212482.4(FN1):c.382G>A (p.Ala128Thr)
|
|
|
NM_212482.4(FN1):c.3860G>A (p.Trp1287Ter)
|
|
|
NM_212482.4(FN1):c.3863C>T (p.Thr1288Ile)
|
|
|
NM_212482.4(FN1):c.3875C>A (p.Ser1292Tyr)
|
|
|
NM_212482.4(FN1):c.3892T>C (p.Tyr1298His)
|
|
|
NM_212482.4(FN1):c.3902C>T (p.Thr1301Ile)
|
|
|
NM_212482.4(FN1):c.3908T>C (p.Val1303Ala)
|
|
|
NM_212482.4(FN1):c.3935T>C (p.Phe1312Ser)
|
|
|
NM_212482.4(FN1):c.3941A>T (p.Asp1314Val)
|
|
|
NM_212482.4(FN1):c.3944T>C (p.Phe1315Ser)
|
rs2059889279
|
|
NM_212482.4(FN1):c.3963A>G (p.Gly1321=)
|
|
|
NM_212482.4(FN1):c.3971C>T (p.Thr1324Ile)
|
rs777406895
|
|
NM_212482.4(FN1):c.3972A>C (p.Thr1324=)
|
rs1559439747
|
|
NM_212482.4(FN1):c.3987G>T (p.Glu1329Asp)
|
|
|
NM_212482.4(FN1):c.4004A>G (p.Asp1335Gly)
|
|
|
NM_212482.4(FN1):c.4012G>A (p.Val1338Ile)
|
|
|
NM_212482.4(FN1):c.404G>A (p.Cys135Tyr)
|
|
|
NM_212482.4(FN1):c.4054C>G (p.Leu1352Val)
|
|
|
NM_212482.4(FN1):c.4064A>G (p.Gln1355Arg)
|
rs2106090049
|
|
NM_212482.4(FN1):c.4067C>T (p.Thr1356Met)
|
|
|
NM_212482.4(FN1):c.4069+3G>A
|
|
|
NM_212482.4(FN1):c.4069G>A (p.Ala1357Thr)
|
|
|
NM_212482.4(FN1):c.418C>T (p.Arg140Cys)
|
|
|
NM_212482.4(FN1):c.4253-16_4253-15delinsTG
|
|
|
NM_212482.4(FN1):c.4265G>A (p.Gly1422Asp)
|
rs1205335918
|
|
NM_212482.4(FN1):c.4276G>C (p.Val1426Leu)
|
|
|
NM_212482.4(FN1):c.4291A>G (p.Ser1431Gly)
|
|
|
NM_212482.4(FN1):c.4300G>A (p.Glu1434Lys)
|
|
|
NM_212482.4(FN1):c.4325G>C (p.Arg1442Thr)
|
|
|
NM_212482.4(FN1):c.4331G>C (p.Arg1444Thr)
|
|
|
NM_212482.4(FN1):c.4341A>G (p.Thr1447=)
|
|
|
NM_212482.4(FN1):c.4342+2T>C
|
|
|
NM_212482.4(FN1):c.4343-9G>T
|
rs1376505353
|
|
NM_212482.4(FN1):c.4343G>A (p.Gly1448Asp)
|
|
|
NM_212482.4(FN1):c.4352C>T (p.Ser1451Phe)
|
|
|
NM_212482.4(FN1):c.4363A>G (p.Ile1455Val)
|
|
|
NM_212482.4(FN1):c.4364T>C (p.Ile1455Thr)
|
|
|
NM_212482.4(FN1):c.4388A>G (p.Asn1463Ser)
|
rs2059090179
|
|
NM_212482.4(FN1):c.4418G>A (p.Arg1473Gln)
|
rs1377048525
|
|
NM_212482.4(FN1):c.4445G>A (p.Arg1482His)
|
|
|
NM_212482.4(FN1):c.4447C>T (p.His1483Tyr)
|
|
|
NM_212482.4(FN1):c.4469G>C (p.Gly1490Ala)
|
|
|
NM_212482.4(FN1):c.4487G>A (p.Arg1496Gln)
|
|
|
NM_212482.4(FN1):c.4520C>G (p.Thr1507Ser)
|
|
|
NM_212482.4(FN1):c.4537A>G (p.Thr1513Ala)
|
|
|
NM_212482.4(FN1):c.4582A>G (p.Ser1528Gly)
|
rs1160138127
|
|
NM_212482.4(FN1):c.4588T>G (p.Leu1530Val)
|
|
|
NM_212482.4(FN1):c.4595T>C (p.Ile1532Thr)
|
rs767639606
|
|
NM_212482.4(FN1):c.4649C>A (p.Ala1550Glu)
|
rs202245868
|
|
NM_212482.4(FN1):c.4649C>T (p.Ala1550Val)
|
|
|
NM_212482.4(FN1):c.4660A>G (p.Ser1554Gly)
|
|
|
NM_212482.4(FN1):c.4696G>A (p.Val1566Met)
|
|
|
NM_212482.4(FN1):c.469C>G (p.Pro157Ala)
|
|
|
NM_212482.4(FN1):c.4732G>A (p.Gly1578Arg)
|
|
|
NM_212482.4(FN1):c.4738A>G (p.Ser1580Gly)
|
|
|
NM_212482.4(FN1):c.4795C>A (p.Leu1599Ile)
|
rs2105965499
|
|
NM_212482.4(FN1):c.4804G>A (p.Gly1602Arg)
|
|
|
NM_212482.4(FN1):c.4826T>G (p.Val1609Gly)
|
|
|
NM_212482.4(FN1):c.4828T>C (p.Tyr1610His)
|
|
|
NM_212482.4(FN1):c.4844G>A (p.Arg1615His)
|
|
|
NM_212482.4(FN1):c.4892C>T (p.Thr1631Ile)
|
|
|
NM_212482.4(FN1):c.4905_4913del (p.Pro1636_Gln1638del)
|
|
|
NM_212482.4(FN1):c.4921G>C (p.Val1641Leu)
|
|
|
NM_212482.4(FN1):c.4948A>C (p.Ser1650Arg)
|
|
|
NM_212482.4(FN1):c.4957T>C (p.Trp1653Arg)
|
|
|
NM_212482.4(FN1):c.5002A>G (p.Thr1668Ala)
|
|
|
NM_212482.4(FN1):c.5003C>G (p.Thr1668Ser)
|
|
|
NM_212482.4(FN1):c.5012A>G (p.Asn1671Ser)
|
|
|
NM_212482.4(FN1):c.5051-1G>A
|
|
|
NM_212482.4(FN1):c.5063T>C (p.Met1688Thr)
|
|
|
NM_212482.4(FN1):c.5090T>C (p.Val1697Ala)
|
|
|
NM_212482.4(FN1):c.5099T>C (p.Val1700Ala)
|
|
|
NM_212482.4(FN1):c.5101G>A (p.Val1701Ile)
|
|
|
NM_212482.4(FN1):c.5128G>A (p.Gly1710Arg)
|
|
|
NM_212482.4(FN1):c.5134A>C (p.Ser1712Arg)
|
|
|
NM_212482.4(FN1):c.5139G>T (p.Gln1713His)
|
rs1186182399
|
|
NM_212482.4(FN1):c.5141C>G (p.Pro1714Arg)
|
rs756109261
|
|
NM_212482.4(FN1):c.5155G>C (p.Ala1719Pro)
|
|
|
NM_212482.4(FN1):c.5164+3A>G
|
rs2105944563
|
|
NM_212482.4(FN1):c.5164+4C>T
|
|
|
NM_212482.4(FN1):c.5168T>C (p.Ile1723Thr)
|
|
|
NM_212482.4(FN1):c.5173C>A (p.Arg1725Ser)
|
|
|
NM_212482.4(FN1):c.5179A>G (p.Lys1727Glu)
|
|
|
NM_212482.4(FN1):c.5197G>A (p.Asp1733Asn)
|
|
|
NM_212482.4(FN1):c.5209G>A (p.Asp1737Asn)
|
|
|
NM_212482.4(FN1):c.5219A>G (p.Lys1740Arg)
|
|
|
NM_212482.4(FN1):c.5255G>A (p.Arg1752Lys)
|
|
|
NM_212482.4(FN1):c.5288G>C (p.Gly1763Ala)
|
|
|
NM_212482.4(FN1):c.5321A>T (p.Glu1774Val)
|
|
|
NM_212482.4(FN1):c.5341C>T (p.Gln1781Ter)
|
|
|
NM_212482.4(FN1):c.5344G>T (p.Gly1782Cys)
|
|
|
NM_212482.4(FN1):c.5351G>T (p.Arg1784Ile)
|
rs2058110478
|
|
NM_212482.4(FN1):c.5354C>T (p.Pro1785Leu)
|
|
|
NM_212482.4(FN1):c.5363A>C (p.Glu1788Ala)
|
|
|
NM_212482.4(FN1):c.5369_5370del (p.Thr1790fs)
|
rs771111687
|
|
NM_212482.4(FN1):c.5370A>G (p.Thr1790=)
|
|
|
NM_212482.4(FN1):c.5401G>C (p.Glu1801Gln)
|
|
|
NM_212482.4(FN1):c.5401_5402delinsTT (p.Glu1801Leu)
|
|
|
NM_212482.4(FN1):c.5413_5414del (p.Leu1805fs)
|
|
|
NM_212482.4(FN1):c.5437A>C (p.Ile1813Leu)
|
|
|
NM_212482.4(FN1):c.5437A>G (p.Ile1813Val)
|
|
|
NM_212482.4(FN1):c.5449A>G (p.Thr1817Ala)
|
|
|
NM_212482.4(FN1):c.547+18C>G
|
|
|
NM_212482.4(FN1):c.547+3G>C
|
|
|
NM_212482.4(FN1):c.547+6T>C
|
|
|
NM_212482.4(FN1):c.5483G>C (p.Ser1828Thr)
|
|
|
NM_212482.4(FN1):c.5509A>C (p.Asn1837His)
|
|
|
NM_212482.4(FN1):c.5524G>A (p.Gly1842Arg)
|
rs761673575
|
|
NM_212482.4(FN1):c.5531G>A (p.Arg1844Gln)
|
|
|
NM_212482.4(FN1):c.5536C>T (p.Arg1846Trp)
|
|
|
NM_212482.4(FN1):c.5537G>A (p.Arg1846Gln)
|
|
|
NM_212482.4(FN1):c.5560G>A (p.Gly1854Arg)
|
|
|
NM_212482.4(FN1):c.556T>A (p.Cys186Ser)
|
|
|
NM_212482.4(FN1):c.5570A>G (p.Lys1857Arg)
|
|
|
NM_212482.4(FN1):c.5579A>G (p.Asn1860Ser)
|
|
|
NM_212482.4(FN1):c.5584G>C (p.Ala1862Pro)
|
|
|
NM_212482.4(FN1):c.5585C>A (p.Ala1862Asp)
|
|
|
NM_212482.4(FN1):c.5587C>G (p.Pro1863Ala)
|
rs1575355312
|
|
NM_212482.4(FN1):c.5597C>T (p.Ser1866Leu)
|
|
|
NM_212482.4(FN1):c.5614G>C (p.Gly1872Arg)
|
|
|
NM_212482.4(FN1):c.5617C>T (p.Leu1873Phe)
|
|
|
NM_212482.4(FN1):c.5630C>T (p.Thr1877Ile)
|
|
|
NM_212482.4(FN1):c.5696T>C (p.Val1899Ala)
|
|
|
NM_212482.4(FN1):c.5711A>G (p.Asn1904Ser)
|
|
|
NM_212482.4(FN1):c.5714T>G (p.Val1905Gly)
|
|
|
NM_212482.4(FN1):c.5723C>T (p.Pro1908Leu)
|
|
|
NM_212482.4(FN1):c.5732C>T (p.Ala1911Val)
|
|
|
NM_212482.4(FN1):c.5755A>T (p.Thr1919Ser)
|
|
|
NM_212482.4(FN1):c.575G>A (p.Gly192Glu)
|
|
|
NM_212482.4(FN1):c.5810T>C (p.Val1937Ala)
|
|
|
NM_212482.4(FN1):c.582del (p.Tyr195fs)
|
rs2106515356
|
|
NM_212482.4(FN1):c.5842A>G (p.Ile1948Val)
|
|
|
NM_212482.4(FN1):c.584A>G (p.Tyr195Cys)
|
|
|
NM_212482.4(FN1):c.593_595del (p.Gly198del)
|
|
|
NM_212482.4(FN1):c.6060G>C (p.Arg2020Ser)
|
|
|
NM_212482.4(FN1):c.6067G>A (p.Gly2023Ser)
|
|
|
NM_212482.4(FN1):c.6067G>C (p.Gly2023Arg)
|
rs759164727
|
|
NM_212482.4(FN1):c.6089A>G (p.Lys2030Arg)
|
|
|
NM_212482.4(FN1):c.6091C>G (p.Pro2031Ala)
|
|
|
NM_212482.4(FN1):c.6098C>A (p.Ser2033Tyr)
|
|
|
NM_212482.4(FN1):c.6107G>A (p.Arg2036Lys)
|
|
|
NM_212482.4(FN1):c.6119C>G (p.Pro2040Arg)
|
|
|
NM_212482.4(FN1):c.6122G>A (p.Arg2041Gln)
|
|
|
NM_212482.4(FN1):c.6128G>A (p.Arg2043His)
|
|
|
NM_212482.4(FN1):c.6134G>T (p.Gly2045Val)
|
|
|
NM_212482.4(FN1):c.6173C>G (p.Thr2058Ser)
|
|
|
NM_212482.4(FN1):c.6179A>G (p.Tyr2060Cys)
|
|
|
NM_212482.4(FN1):c.6194T>C (p.Ile2065Thr)
|
|
|
NM_212482.4(FN1):c.6224C>T (p.Pro2075Leu)
|
rs775398685
|
|
NM_212482.4(FN1):c.6242A>C (p.Lys2081Thr)
|
|
|
NM_212482.4(FN1):c.6248A>G (p.Asp2083Gly)
|
|
|
NM_212482.4(FN1):c.6280C>G (p.Pro2094Ala)
|
rs2056381605
|
|
NM_212482.4(FN1):c.6305T>C (p.Leu2102Ser)
|
rs2106250153
|
|
NM_212482.4(FN1):c.6330G>C (p.Lys2110Asn)
|
|
|
NM_212482.4(FN1):c.6346C>T (p.His2116Tyr)
|
|
|
NM_212482.4(FN1):c.638G>A (p.Cys213Tyr)
|
rs1559604072
|
|
NM_212482.4(FN1):c.638G>C (p.Cys213Ser)
|
|
|
NM_212482.4(FN1):c.6403C>T (p.Pro2135Ser)
|
|
|
NM_212482.4(FN1):c.6430G>A (p.Glu2144Lys)
|
|
|
NM_212482.4(FN1):c.6431A>G (p.Glu2144Gly)
|
rs2106249069
|
|
NM_212482.4(FN1):c.6433G>A (p.Glu2145Lys)
|
|
|
NM_212482.4(FN1):c.643T>C (p.Cys215Arg)
|
|
|
NM_212482.4(FN1):c.6448C>T (p.Arg2150Trp)
|
|
|
NM_212482.4(FN1):c.6456_6458delinsTTATGCCTAAAGTGGTTTTAG (p.Pro2153delinsTyrAlaTer)
|
|
|
NM_212482.4(FN1):c.6458C>T (p.Pro2153Leu)
|
|
|
NM_212482.4(FN1):c.6466A>G (p.Thr2156Ala)
|
|
|
NM_212482.4(FN1):c.6511G>C (p.Val2171Leu)
|
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NM_212482.4(FN1):c.6546G>C (p.Arg2182Ser)
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NM_212482.4(FN1):c.6563A>T (p.His2188Leu)
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NM_212482.4(FN1):c.6566T>C (p.Leu2189Pro)
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rs2056301741
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NM_212482.4(FN1):c.6568T>A (p.Tyr2190Asn)
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NM_212482.4(FN1):c.6577G>A (p.Gly2193Ser)
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NM_212482.4(FN1):c.6581C>T (p.Pro2194Leu)
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NM_212482.4(FN1):c.6581dup (p.Leu2196fs)
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NM_212482.4(FN1):c.6604A>G (p.Thr2202Ala)
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NM_212482.4(FN1):c.6614A>C (p.Glu2205Ala)
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NM_212482.4(FN1):c.6631A>G (p.Thr2211Ala)
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NM_212482.4(FN1):c.6686C>T (p.Pro2229Leu)
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NM_212482.4(FN1):c.6705A>C (p.Glu2235Asp)
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NM_212482.4(FN1):c.6707C>A (p.Pro2236His)
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NM_212482.4(FN1):c.6714+1G>A
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NM_212482.4(FN1):c.671C>G (p.Thr224Ser)
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NM_212482.4(FN1):c.6767G>A (p.Gly2256Asp)
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NM_212482.4(FN1):c.6767G>T (p.Gly2256Val)
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NM_212482.4(FN1):c.676A>C (p.Thr226Pro)
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NM_212482.4(FN1):c.6781= (p.Val2261=)
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NM_212482.4(FN1):c.6811A>T (p.Arg2271Trp)
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NM_212482.4(FN1):c.6820G>A (p.Val2274Ile)
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NM_212482.4(FN1):c.6832GTT[1] (p.Val2279del)
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NM_212482.4(FN1):c.685+1G>A
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NM_212482.4(FN1):c.685+5G>A
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rs2106514540
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NM_212482.4(FN1):c.6853+12C>G
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rs111303746
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NM_212482.4(FN1):c.687T>G (p.Asn229Lys)
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NM_212482.4(FN1):c.688A>G (p.Arg230Gly)
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NM_212482.4(FN1):c.692G>A (p.Cys231Tyr)
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rs2106488910
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NM_212482.4(FN1):c.697G>A (p.Asp233Asn)
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NM_212482.4(FN1):c.697G>C (p.Asp233His)
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rs759240555
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NM_212482.4(FN1):c.703G>A (p.Asp235Asn)
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NM_212482.4(FN1):c.718T>A (p.Tyr240Asn)
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NM_212482.4(FN1):c.719A>G (p.Tyr240Cys)
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NM_212482.4(FN1):c.761A>G (p.Asn254Ser)
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NM_212482.4(FN1):c.770A>G (p.Gln257Arg)
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NM_212482.4(FN1):c.772T>C (p.Cys258Arg)
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NM_212482.4(FN1):c.773G>A (p.Cys258Tyr)
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rs1553658948
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NM_212482.4(FN1):c.773G>T (p.Cys258Phe)
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NM_212482.4(FN1):c.790G>T (p.Gly264Cys)
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NM_212482.4(FN1):c.793C>G (p.Arg265Gly)
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NM_212482.4(FN1):c.811G>A (p.Glu271Lys)
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NM_212482.4(FN1):c.832A>G (p.Thr278Ala)
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NM_212482.4(FN1):c.843C>T (p.Ser281=)
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NM_212482.4(FN1):c.854C>T (p.Pro285Leu)
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NM_212482.4(FN1):c.898C>G (p.Pro300Ala)
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NM_212482.4(FN1):c.899C>T (p.Pro300Leu)
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NM_212482.4(FN1):c.976C>T (p.Gln326Ter)
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rs1057518335
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