NM_000245.4(MET):c.1124A>G (p.Asn375Ser)
|
rs33917957
|
0.01723
|
NM_000245.4(MET):c.2975C>T (p.Thr992Ile)
|
rs56391007
|
0.00911
|
NM_000245.4(MET):c.1085T>C (p.Met362Thr)
|
rs77523018
|
0.00742
|
NM_000245.4(MET):c.504G>T (p.Glu168Asp)
|
rs55985569
|
0.00420
|
NM_000245.4(MET):c.-14-4G>A
|
rs144126521
|
0.00331
|
NM_000245.4(MET):c.2908C>T (p.Arg970Cys)
|
rs34589476
|
0.00327
|
NM_000245.4(MET):c.2365-21G>C
|
rs140853140
|
0.00242
|
NM_000245.4(MET):c.1715G>A (p.Ser572Asn)
|
rs199771406
|
0.00188
|
NM_000245.4(MET):c.2584-9T>C
|
rs74994656
|
0.00119
|
NM_000245.4(MET):c.1039G>A (p.Ala347Thr)
|
rs200074800
|
0.00068
|
NM_000245.4(MET):c.406G>A (p.Val136Ile)
|
rs199701987
|
0.00058
|
NM_000245.4(MET):c.71G>A (p.Gly24Glu)
|
rs180985111
|
0.00055
|
NM_000245.4(MET):c.3523-12C>G
|
rs186524917
|
0.00053
|
NM_000245.4(MET):c.607T>A (p.Ser203Thr)
|
rs200861145
|
0.00053
|
NM_000245.4(MET):c.959C>T (p.Ala320Val)
|
rs35776110
|
0.00045
|
NM_000245.4(MET):c.2715C>T (p.Ser905=)
|
rs45572835
|
0.00039
|
NM_000245.4(MET):c.901A>G (p.Thr301Ala)
|
rs201687037
|
0.00038
|
NM_000245.4(MET):c.1966-17T>C
|
rs555288487
|
0.00027
|
NM_000245.4(MET):c.967A>G (p.Ser323Gly)
|
rs201467281
|
0.00024
|
NM_000245.4(MET):c.1076G>A (p.Arg359Gln)
|
rs201274041
|
0.00022
|
NM_000245.4(MET):c.3632+42C>G
|
rs376183825
|
0.00021
|
NM_000245.4(MET):c.1412G>A (p.Gly471Glu)
|
rs373312981
|
0.00016
|
NM_000245.4(MET):c.4087G>A (p.Ala1363Thr)
|
rs45578433
|
0.00016
|
NM_000245.4(MET):c.40C>T (p.Leu14Phe)
|
rs763344951
|
0.00015
|
NM_000245.4(MET):c.2365-14G>T
|
rs769247886
|
0.00013
|
NM_000245.4(MET):c.3798+5T>C
|
rs368150874
|
0.00012
|
NM_000245.4(MET):c.110T>C (p.Val37Ala)
|
rs201315884
|
0.00009
|
NM_000245.4(MET):c.3236A>G (p.His1079Arg)
|
rs758292223
|
0.00009
|
NM_000245.4(MET):c.1669A>G (p.Thr557Ala)
|
rs374733251
|
0.00008
|
NM_000245.4(MET):c.3218C>T (p.Pro1073Leu)
|
rs370529693
|
0.00007
|
NM_000245.4(MET):c.12C>T (p.Pro4=)
|
rs772251895
|
0.00006
|
NM_000245.4(MET):c.632T>G (p.Leu211Trp)
|
rs45483396
|
0.00005
|
NM_000245.4(MET):c.1132G>A (p.Val378Ile)
|
rs749738523
|
0.00004
|
NM_000245.4(MET):c.1278C>T (p.Arg426=)
|
rs748508881
|
0.00004
|
NM_000245.4(MET):c.142G>A (p.Ala48Thr)
|
rs374050750
|
0.00004
|
NM_000245.4(MET):c.1863-10T>C
|
rs758048261
|
0.00004
|
NM_000245.4(MET):c.1881T>C (p.Gly627=)
|
rs200050499
|
0.00004
|
NM_000245.4(MET):c.1992G>A (p.Pro664=)
|
rs373842614
|
0.00004
|
NM_000245.4(MET):c.2103-4T>C
|
rs753740913
|
0.00004
|
NM_000245.4(MET):c.2584-16T>C
|
rs766575983
|
0.00004
|
NM_000245.4(MET):c.1972G>A (p.Val658Ile)
|
rs587778446
|
0.00003
|
NM_000245.4(MET):c.2888-16T>C
|
rs1035141881
|
0.00003
|
NM_000245.4(MET):c.3633-4G>C
|
rs1477354447
|
0.00003
|
NM_000245.4(MET):c.639G>A (p.Ser213=)
|
rs587780738
|
0.00003
|
NM_000245.4(MET):c.1201-15C>T
|
rs1392417542
|
0.00002
|
NM_000245.4(MET):c.1965+14T>C
|
rs543293293
|
0.00002
|
NM_000245.4(MET):c.2731-8A>T
|
rs538856434
|
0.00002
|
NM_000245.4(MET):c.939G>A (p.Val313=)
|
rs375716972
|
0.00002
|
NM_000245.4(MET):c.-7T>C
|
rs863224376
|
0.00001
|
NM_000245.4(MET):c.1200+8A>G
|
rs879254331
|
0.00001
|
NM_000245.4(MET):c.1306G>A (p.Glu436Lys)
|
rs200740468
|
0.00001
|
NM_000245.4(MET):c.1393-6G>A
|
rs202194405
|
0.00001
|
NM_000245.4(MET):c.1393-9G>A
|
rs1474428051
|
0.00001
|
NM_000245.4(MET):c.1528-13C>T
|
rs751613983
|
0.00001
|
NM_000245.4(MET):c.1528-9T>C
|
rs767768257
|
0.00001
|
NM_000245.4(MET):c.1701+7A>T
|
rs749081367
|
0.00001
|
NM_000245.4(MET):c.1702-20G>A
|
rs201975734
|
0.00001
|
NM_000245.4(MET):c.1702-3T>C
|
rs754686930
|
0.00001
|
NM_000245.4(MET):c.1862+8T>G
|
rs1366709635
|
0.00001
|
NM_000245.4(MET):c.1863-6T>C
|
rs1168220004
|
0.00001
|
NM_000245.4(MET):c.1966-9C>T
|
rs750268644
|
0.00001
|
NM_000245.4(MET):c.2102+7T>C
|
rs1584941903
|
0.00001
|
NM_000245.4(MET):c.2102+9A>T
|
rs201495740
|
0.00001
|
NM_000245.4(MET):c.2103-15A>T
|
rs1471890312
|
0.00001
|
NM_000245.4(MET):c.2365-11T>C
|
rs1367439751
|
0.00001
|
NM_000245.4(MET):c.2365-12G>A
|
rs986494432
|
0.00001
|
NM_000245.4(MET):c.2365-16T>C
|
rs763349755
|
0.00001
|
NM_000245.4(MET):c.2583+7A>T
|
rs756403758
|
0.00001
|
NM_000245.4(MET):c.2888-17T>C
|
rs767063578
|
0.00001
|
NM_000245.4(MET):c.3260-4A>G
|
rs864622521
|
0.00001
|
NM_000245.4(MET):c.3341-12T>C
|
rs1235902821
|
0.00001
|
NM_000245.4(MET):c.3633-11C>T
|
rs1424157003
|
0.00001
|
NM_000245.4(MET):c.3633-7T>C
|
rs863224379
|
0.00001
|
NM_000245.4(MET):c.3799-10G>A
|
rs1270863054
|
0.00001
|
NM_000245.4(MET):c.689C>T (p.Thr230Met)
|
rs587780740
|
0.00001
|
NM_000245.4(MET):c.-14-4G>T
|
|
|
NM_000245.4(MET):c.1200+9C>A
|
|
|
NM_000245.4(MET):c.1200+9C>T
|
|
|
NM_000245.4(MET):c.1201-12A>C
|
rs2116778819
|
|
NM_000245.4(MET):c.1201-13T>C
|
|
|
NM_000245.4(MET):c.1201-17A>G
|
|
|
NM_000245.4(MET):c.1201-18G>A
|
|
|
NM_000245.4(MET):c.1201-18G>C
|
|
|
NM_000245.4(MET):c.1201-20A>G
|
|
|
NM_000245.4(MET):c.1392+10T>G
|
rs2116784727
|
|
NM_000245.4(MET):c.1392+7G>A
|
|
|
NM_000245.4(MET):c.1392+7G>T
|
|
|
NM_000245.4(MET):c.1392+8C>T
|
|
|
NM_000245.4(MET):c.1393-10dup
|
|
|
NM_000245.4(MET):c.1393-12T>C
|
|
|
NM_000245.4(MET):c.1393-19T>C
|
rs995271235
|
|
NM_000245.4(MET):c.1393-2A>T
|
rs1584921898
|
|
NM_000245.4(MET):c.142_144delinsACA (p.Ala48Thr)
|
|
|
NM_000245.4(MET):c.1528-10C>T
|
|
|
NM_000245.4(MET):c.1528-13del
|
|
|
NM_000245.4(MET):c.1528-15C>T
|
|
|
NM_000245.4(MET):c.1528-17A>C
|
|
|
NM_000245.4(MET):c.1528-18C>T
|
|
|
NM_000245.4(MET):c.1528-19C>T
|
|
|
NM_000245.4(MET):c.1528-6T>C
|
|
|
NM_000245.4(MET):c.1528-8C>T
|
|
|
NM_000245.4(MET):c.1702-11T>C
|
|
|
NM_000245.4(MET):c.1702-12T>C
|
|
|
NM_000245.4(MET):c.1702-15A>C
|
rs200635057
|
|
NM_000245.4(MET):c.1702-15A>G
|
|
|
NM_000245.4(MET):c.1862+7A>C
|
|
|
NM_000245.4(MET):c.1863-10_1863-9insC
|
|
|
NM_000245.4(MET):c.1863-13G>A
|
|
|
NM_000245.4(MET):c.1863-13G>C
|
rs764856420
|
|
NM_000245.4(MET):c.1863-13G>T
|
|
|
NM_000245.4(MET):c.1863-14G>C
|
|
|
NM_000245.4(MET):c.1863-14G>T
|
|
|
NM_000245.4(MET):c.1863-16T>C
|
rs759151928
|
|
NM_000245.4(MET):c.1863-18T>C
|
|
|
NM_000245.4(MET):c.1863-5T>C
|
rs751421114
|
|
NM_000245.4(MET):c.1863-5dup
|
rs766900241
|
|
NM_000245.4(MET):c.1863-7T>C
|
rs763829971
|
|
NM_000245.4(MET):c.1965+7A>G
|
rs2116921524
|
|
NM_000245.4(MET):c.1966-13A>G
|
|
|
NM_000245.4(MET):c.1973T>C (p.Val658Ala)
|
rs1584941533
|
|
NM_000245.4(MET):c.2102+5T>G
|
rs1794247110
|
|
NM_000245.4(MET):c.2102+8_2102+22del
|
|
|
NM_000245.4(MET):c.2103-12T>C
|
|
|
NM_000245.4(MET):c.2103-14T>C
|
|
|
NM_000245.4(MET):c.2103-15del
|
rs1164805994
|
|
NM_000245.4(MET):c.2103-1G>T
|
rs1336351205
|
|
NM_000245.4(MET):c.2103-2A>T
|
rs1470403316
|
|
NM_000245.4(MET):c.2103-6G>A
|
rs1475118987
|
|
NM_000245.4(MET):c.2103-7del
|
rs761227260
|
|
NM_000245.4(MET):c.2103-7dup
|
rs761227260
|
|
NM_000245.4(MET):c.2265-10G>T
|
rs1355716761
|
|
NM_000245.4(MET):c.2265-10del
|
|
|
NM_000245.4(MET):c.2265-15A>G
|
rs201304108
|
|
NM_000245.4(MET):c.2265-18T>C
|
|
|
NM_000245.4(MET):c.2364+7C>G
|
|
|
NM_000245.4(MET):c.2365-14G>A
|
rs769247886
|
|
NM_000245.4(MET):c.2365-21_2365-20del
|
|
|
NM_000245.4(MET):c.2365-5T>C
|
|
|
NM_000245.4(MET):c.2365-9T>C
|
|
|
NM_000245.4(MET):c.252C>T (p.Tyr84=)
|
rs1584876265
|
|
NM_000245.4(MET):c.2583+10G>T
|
rs2116957648
|
|
NM_000245.4(MET):c.2584-10T>C
|
rs1308148206
|
|
NM_000245.4(MET):c.2584-11T>C
|
|
|
NM_000245.4(MET):c.2584-18T>C
|
|
|
NM_000245.4(MET):c.2584-1G>T
|
rs1240673121
|
|
NM_000245.4(MET):c.2584-3C>T
|
rs1337305891
|
|
NM_000245.4(MET):c.2584-4T>C
|
rs1554397896
|
|
NM_000245.4(MET):c.2584-7del
|
rs587780736
|
|
NM_000245.4(MET):c.2584-8C>T
|
rs370833501
|
|
NM_000245.4(MET):c.2584-8_2584-7dup
|
|
|
NM_000245.4(MET):c.2730+3G>A
|
|
|
NM_000245.4(MET):c.2730+4G>A
|
|
|
NM_000245.4(MET):c.2730+8T>C
|
|
|
NM_000245.4(MET):c.2731-16T>C
|
|
|
NM_000245.4(MET):c.2731-17T>C
|
|
|
NM_000245.4(MET):c.2731-18T>C
|
|
|
NM_000245.4(MET):c.2887+9T>C
|
|
|
NM_000245.4(MET):c.2888-12_2888-9del
|
|
|
NM_000245.4(MET):c.2888-16_2888-13del
|
rs747887276
|
|
NM_000245.4(MET):c.2888-19T>C
|
|
|
NM_000245.4(MET):c.2888-20T>C
|
|
|
NM_000245.4(MET):c.2888-21_2888-20delinsGC
|
rs2116995433
|
|
NM_000245.4(MET):c.3028+10A>C
|
rs763648816
|
|
NM_000245.4(MET):c.3028+10A>G
|
rs763648816
|
|
NM_000245.4(MET):c.3028+10A>T
|
|
|
NM_000245.4(MET):c.3028+5A>G
|
|
|
NM_000245.4(MET):c.3029-18T>C
|
rs1794944566
|
|
NM_000245.4(MET):c.3260-12del
|
|
|
NM_000245.4(MET):c.3260-9T>C
|
|
|
NM_000245.4(MET):c.3340+8G>A
|
rs541156628
|
|
NM_000245.4(MET):c.3341-10G>A
|
rs1281663962
|
|
NM_000245.4(MET):c.3341-14A>C
|
|
|
NM_000245.4(MET):c.3523-10T>C
|
rs2117059286
|
|
NM_000245.4(MET):c.3523-14C>T
|
|
|
NM_000245.4(MET):c.3523-16CT[2]
|
|
|
NM_000245.4(MET):c.3523-5T>C
|
|
|
NM_000245.4(MET):c.3523-6C>T
|
rs1554400069
|
|
NM_000245.4(MET):c.3632+10A>G
|
|
|
NM_000245.4(MET):c.3632+7A>C
|
rs1795175584
|
|
NM_000245.4(MET):c.3633-13G>A
|
|
|
NM_000245.4(MET):c.3633-14T>C
|
|
|
NM_000245.4(MET):c.3633-14del
|
|
|
NM_000245.4(MET):c.3633-18T>C
|
|
|
NM_000245.4(MET):c.3633-4G>A
|
rs1477354447
|
|
NM_000245.4(MET):c.3633-8delinsCC
|
|
|
NM_000245.4(MET):c.3798+10T>G
|
|
|
NM_000245.4(MET):c.3798+8A>G
|
|
|
NM_000245.4(MET):c.3798+9T>C
|
|
|
NM_000245.4(MET):c.3799-12T>C
|
|
|
NM_000245.4(MET):c.3799-20C>T
|
|
|
NM_000245.4(MET):c.3799-4C>T
|
rs2117107162
|
|
NM_000245.4(MET):c.3799-8T>C
|
|
|
NM_000245.4(MET):c.3799-9T>C
|
|
|
NM_000245.4(MET):c.3867C>T (p.Thr1289=)
|
rs587780532
|
|
NM_000245.4(MET):c.3935+8G>A
|
rs2117109392
|
|
NM_000245.4(MET):c.3935+9T>C
|
|
|
NM_000245.4(MET):c.3936-13_3936-10del
|
rs745366999
|
|
NM_000245.4(MET):c.3936-19G>C
|
|
|
NM_000245.4(MET):c.3936-19del
|
|
|
NM_000245.4(MET):c.51C>T (p.Thr17=)
|
rs1584875653
|
|
NM_000245.4(MET):c.850A>G (p.Ile284Val)
|
rs776014448
|
|