NM_000245.4(MET):c.*1886T>A
|
rs536185931
|
0.00076
|
NM_000245.4(MET):c.406G>A (p.Val136Ile)
|
rs199701987
|
0.00058
|
NM_000245.4(MET):c.*1636C>T
|
rs186175651
|
0.00057
|
NM_000245.4(MET):c.*1637G>A
|
rs534514626
|
0.00026
|
NM_000245.4(MET):c.*655C>T
|
rs563978117
|
0.00026
|
NM_000245.4(MET):c.*2079G>A
|
rs757859772
|
0.00024
|
NM_000245.4(MET):c.*1784T>A
|
rs554029534
|
0.00023
|
NM_000245.4(MET):c.*1593G>A
|
rs764929802
|
0.00020
|
NM_000245.4(MET):c.1412G>A (p.Gly471Glu)
|
rs373312981
|
0.00016
|
NM_000245.4(MET):c.1771C>T (p.Arg591Trp)
|
rs45602940
|
0.00015
|
NM_000245.4(MET):c.2684C>T (p.Thr895Met)
|
rs199502137
|
0.00011
|
NM_000245.4(MET):c.*1714C>A
|
rs747850853
|
0.00009
|
NM_000245.4(MET):c.1669A>G (p.Thr557Ala)
|
rs374733251
|
0.00008
|
NM_000245.4(MET):c.*1878A>G
|
rs770910579
|
0.00007
|
NM_000245.4(MET):c.1862C>T (p.Thr621Ile)
|
rs375951814
|
0.00007
|
NM_000245.4(MET):c.803C>T (p.Thr268Ile)
|
rs757427533
|
0.00007
|
NM_000245.4(MET):c.*803T>A
|
rs1001801655
|
0.00006
|
NM_000245.4(MET):c.818C>A (p.Thr273Asn)
|
rs368144654
|
0.00006
|
NM_000245.4(MET):c.1988C>T (p.Ser663Leu)
|
rs376459715
|
0.00005
|
NM_000245.4(MET):c.2674G>A (p.Val892Ile)
|
rs761243391
|
0.00005
|
NM_000245.4(MET):c.4007G>A (p.Arg1336Gln)
|
rs369312680
|
0.00005
|
NM_000245.4(MET):c.*221G>A
|
rs886061946
|
0.00004
|
NM_000245.4(MET):c.*76C>T
|
rs527496385
|
0.00004
|
NM_000245.4(MET):c.1320A>G (p.Thr440=)
|
rs763726060
|
0.00004
|
NM_000245.4(MET):c.142G>A (p.Ala48Thr)
|
rs374050750
|
0.00004
|
NM_000245.4(MET):c.2825C>T (p.Ser942Leu)
|
rs375576430
|
0.00004
|
NM_000245.4(MET):c.2909G>A (p.Arg970His)
|
rs45607832
|
0.00004
|
NM_000245.4(MET):c.341A>T (p.Asp114Val)
|
rs773659883
|
0.00004
|
NM_000245.4(MET):c.4016C>T (p.Ala1339Val)
|
rs1453842331
|
0.00004
|
NM_000245.4(MET):c.4034T>C (p.Ile1345Thr)
|
rs768188910
|
0.00004
|
NM_000245.4(MET):c.428G>A (p.Arg143Gln)
|
rs35469582
|
0.00004
|
NM_000245.4(MET):c.*2051C>T
|
rs886061951
|
0.00003
|
NM_000245.4(MET):c.*296G>C
|
rs1237383281
|
0.00003
|
NM_000245.4(MET):c.2555T>A (p.Met852Lys)
|
rs369758288
|
0.00003
|
NM_000245.4(MET):c.2971C>T (p.Pro991Ser)
|
rs768678989
|
0.00003
|
NM_000245.4(MET):c.3221G>A (p.Ser1074Asn)
|
rs752641437
|
0.00003
|
NM_000245.4(MET):c.3356G>C (p.Gly1119Ala)
|
rs201037977
|
0.00003
|
NM_000245.4(MET):c.4100C>G (p.Ser1367Cys)
|
rs747239403
|
0.00003
|
NM_000245.4(MET):c.762A>C (p.Glu254Asp)
|
rs760278126
|
0.00003
|
NM_000245.4(MET):c.788C>T (p.Thr263Met)
|
rs764052874
|
0.00003
|
NM_000245.4(MET):c.*530G>A
|
rs185897782
|
0.00002
|
NM_000245.4(MET):c.1081G>T (p.Ala361Ser)
|
rs786202310
|
0.00002
|
NM_000245.4(MET):c.2755G>A (p.Val919Ile)
|
rs759522148
|
0.00002
|
NM_000245.4(MET):c.4011A>G (p.Ile1337Met)
|
rs376418811
|
0.00002
|
NM_000245.4(MET):c.4074C>T (p.Asn1358=)
|
rs772860611
|
0.00002
|
NM_000245.4(MET):c.4090C>T (p.Pro1364Ser)
|
rs765332671
|
0.00002
|
NM_000245.4(MET):c.*1477C>T
|
rs750893461
|
0.00001
|
NM_000245.4(MET):c.*41A>G
|
rs771518812
|
0.00001
|
NM_000245.4(MET):c.1099A>G (p.Ile367Val)
|
rs774146015
|
0.00001
|
NM_000245.4(MET):c.1171G>A (p.Gly391Arg)
|
rs587778443
|
0.00001
|
NM_000245.4(MET):c.1238G>A (p.Arg413His)
|
rs375391602
|
0.00001
|
NM_000245.4(MET):c.1336A>G (p.Ile446Val)
|
rs779022887
|
0.00001
|
NM_000245.4(MET):c.143C>G (p.Ala48Gly)
|
rs80256822
|
0.00001
|
NM_000245.4(MET):c.1444G>A (p.Asp482Asn)
|
rs863224694
|
0.00001
|
NM_000245.4(MET):c.1450C>T (p.His484Tyr)
|
rs771272439
|
0.00001
|
NM_000245.4(MET):c.1451A>G (p.His484Arg)
|
rs781545528
|
0.00001
|
NM_000245.4(MET):c.1693A>G (p.Ile565Val)
|
rs745479104
|
0.00001
|
NM_000245.4(MET):c.1772G>A (p.Arg591Gln)
|
rs775965879
|
0.00001
|
NM_000245.4(MET):c.1904A>G (p.Asn635Ser)
|
rs773826297
|
0.00001
|
NM_000245.4(MET):c.215T>C (p.Val72Ala)
|
rs973796037
|
0.00001
|
NM_000245.4(MET):c.2192G>A (p.Arg731Gln)
|
rs45446492
|
0.00001
|
NM_000245.4(MET):c.2673C>T (p.Ala891=)
|
rs561131509
|
0.00001
|
NM_000245.4(MET):c.2716G>A (p.Glu906Lys)
|
rs778115147
|
0.00001
|
NM_000245.4(MET):c.2914G>A (p.Asp972Asn)
|
rs756031094
|
0.00001
|
NM_000245.4(MET):c.2974A>G (p.Thr992Ala)
|
rs774433287
|
0.00001
|
NM_000245.4(MET):c.3091A>G (p.Met1031Val)
|
rs45564937
|
0.00001
|
NM_000245.4(MET):c.362T>C (p.Val121Ala)
|
rs879254339
|
0.00001
|
NM_000245.4(MET):c.3878C>G (p.Thr1293Ser)
|
rs779121848
|
0.00001
|
NM_000245.4(MET):c.3997C>G (p.Leu1333Val)
|
rs758738756
|
0.00001
|
NM_000245.4(MET):c.446A>G (p.Asn149Ser)
|
rs772398152
|
0.00001
|
NM_000245.4(MET):c.600C>G (p.Thr200=)
|
rs1225303075
|
0.00001
|
NC_000007.13:g.(?_116339129)_(116340348_?)dup
|
|
|
NC_000007.13:g.(?_116339133)_(116399550_?)dup
|
|
|
NC_000007.13:g.(?_116395399)_(116395579_?)dup
|
|
|
NC_000007.14:g.(?_116699075)_(116796134_?)dup
|
|
|
NC_000007.14:g.(?_116699085)_(116700294_?)dup
|
|
|
NC_000007.14:g.(?_116740842)_(116796134_?)dup
|
|
|
NC_000007.14:g.(?_116740846)_(116741031_?)del
|
|
|
NM_000245.4(MET):c.*105C>A
|
rs886061945
|
|
NM_000245.4(MET):c.*1244G>T
|
rs144559852
|
|
NM_000245.4(MET):c.*1359T>C
|
rs1795712500
|
|
NM_000245.4(MET):c.*1460C>G
|
rs886061949
|
|
NM_000245.4(MET):c.*1809C>T
|
rs868554436
|
|
NM_000245.4(MET):c.*1882G>T
|
rs886061950
|
|
NM_000245.4(MET):c.*1909A>G
|
rs1795730503
|
|
NM_000245.4(MET):c.*1929A>G
|
rs1321841621
|
|
NM_000245.4(MET):c.*2134T>A
|
rs144156652
|
|
NM_000245.4(MET):c.*2147T>C
|
rs1795737615
|
|
NM_000245.4(MET):c.*2202G>T
|
rs14456
|
|
NM_000245.4(MET):c.*2245G>T
|
rs1447240969
|
|
NM_000245.4(MET):c.*27C>A
|
rs1795669540
|
|
NM_000245.4(MET):c.*2G>T
|
rs1795668471
|
|
NM_000245.4(MET):c.*359G>A
|
rs1795682838
|
|
NM_000245.4(MET):c.*422T>A
|
rs886061947
|
|
NM_000245.4(MET):c.*438T>A
|
rs955990225
|
|
NM_000245.4(MET):c.*480T>C
|
rs1207133647
|
|
NM_000245.4(MET):c.*493A>C
|
rs1795687373
|
|
NM_000245.4(MET):c.*786C>T
|
rs935854365
|
|
NM_000245.4(MET):c.*984C>T
|
rs573510587
|
|
NM_000245.4(MET):c.*995G>T
|
rs886061948
|
|
NM_000245.4(MET):c.1011G>A (p.Leu337=)
|
rs886061942
|
|
NM_000245.4(MET):c.1125C>G (p.Asn375Lys)
|
rs776693512
|
|
NM_000245.4(MET):c.1157T>G (p.Leu386Arg)
|
rs1554379180
|
|
NM_000245.4(MET):c.1174C>A (p.Pro392Thr)
|
rs886061943
|
|
NM_000245.4(MET):c.135C>G (p.Asn45Lys)
|
rs1562883006
|
|
NM_000245.4(MET):c.1361A>T (p.Asn454Ile)
|
rs587780734
|
|
NM_000245.4(MET):c.1393-1G>T
|
rs1584921909
|
|
NM_000245.4(MET):c.1484C>G (p.Thr495Arg)
|
rs45585831
|
|
NM_000245.4(MET):c.1489A>G (p.Asn497Asp)
|
rs766209435
|
|
NM_000245.4(MET):c.1496A>G (p.Asn499Ser)
|
rs1253878709
|
|
NM_000245.4(MET):c.1507C>G (p.Leu503Val)
|
rs1417433919
|
|
NM_000245.4(MET):c.1508T>A (p.Leu503Gln)
|
rs1562908826
|
|
NM_000245.4(MET):c.1627G>A (p.Asp543Asn)
|
rs763991073
|
|
NM_000245.4(MET):c.16G>T (p.Val6Leu)
|
rs1395233386
|
|
NM_000245.4(MET):c.1863-5dup
|
rs766900241
|
|
NM_000245.4(MET):c.1866G>C (p.Leu622Phe)
|
rs1562921668
|
|
NM_000245.4(MET):c.1933G>A (p.Gly645Arg)
|
rs763849125
|
|
NM_000245.4(MET):c.1965+11T>G
|
rs780230492
|
|
NM_000245.4(MET):c.2191C>T (p.Arg731Ter)
|
rs377336878
|
|
NM_000245.4(MET):c.2265-48G>T
|
rs587780540
|
|
NM_000245.4(MET):c.236A>G (p.Gln79Arg)
|
rs1562883214
|
|
NM_000245.4(MET):c.2375A>G (p.His792Arg)
|
rs980467681
|
|
NM_000245.4(MET):c.2510A>G (p.His837Arg)
|
rs1041349799
|
|
NM_000245.4(MET):c.2568T>G (p.Asn856Lys)
|
rs118057172
|
|
NM_000245.4(MET):c.2672C>G (p.Ala891Gly)
|
rs1562929174
|
|
NM_000245.4(MET):c.2828C>T (p.Thr943Ile)
|
rs2116992551
|
|
NM_000245.4(MET):c.2887+1G>T
|
|
|
NM_000245.4(MET):c.2887+5A>T
|
rs752292538
|
|
NM_000245.4(MET):c.2892G>A (p.Leu964=)
|
rs1584955273
|
|
NM_000245.4(MET):c.2893G>A (p.Gly965Ser)
|
rs1413209214
|
|
NM_000245.4(MET):c.2917G>A (p.Ala973Thr)
|
rs1584955330
|
|
NM_000245.4(MET):c.2995G>C (p.Glu999Gln)
|
rs1404824650
|
|
NM_000245.4(MET):c.3065G>T (p.Arg1022Leu)
|
rs45612435
|
|
NM_000245.4(MET):c.3200A>T (p.Gln1067Leu)
|
rs1554398900
|
|
NM_000245.4(MET):c.3246A>T (p.Glu1082Asp)
|
rs1794955289
|
|
NM_000245.4(MET):c.3352A>G (p.Ile1118Val)
|
rs755234697
|
|
NM_000245.4(MET):c.3400T>A (p.Phe1134Ile)
|
|
|
NM_000245.4(MET):c.367G>A (p.Asp123Asn)
|
rs760106468
|
|
NM_000245.4(MET):c.3991T>G (p.Ser1331Ala)
|
rs1562941559
|
|
NM_000245.4(MET):c.4041G>T (p.Glu1347Asp)
|
rs1562941622
|
|
NM_000245.4(MET):c.410A>G (p.Asn137Ser)
|
rs1584876716
|
|
NM_000245.4(MET):c.4118A>G (p.Asp1373Gly)
|
rs773898036
|
|
NM_000245.4(MET):c.4122C>A (p.Asn1374Lys)
|
rs370767911
|
|
NM_000245.4(MET):c.4140C>A (p.Asp1380Glu)
|
rs370368651
|
|
NM_000245.4(MET):c.425A>G (p.Gln142Arg)
|
rs768640780
|
|
NM_000245.4(MET):c.569A>G (p.Asp190Gly)
|
rs1028165414
|
|
NM_000245.4(MET):c.728A>G (p.Asp243Gly)
|
rs1562883992
|
|
NM_000245.4(MET):c.799G>A (p.Glu267Lys)
|
rs755954919
|
|
NM_000245.4(MET):c.847T>C (p.Ser283Pro)
|
rs1791505194
|
|
NM_000245.4(MET):c.925A>C (p.Thr309Pro)
|
rs35601148
|
|
NM_001127500.2(MET):c.(?_-1)_1200+?dup
|
|
|