NM_005476.7(GNE):c.*691A>T
|
rs10972791
|
0.11652
|
NM_005476.7(GNE):c.*1660A>G
|
rs185870650
|
0.00237
|
NM_005476.7(GNE):c.-102G>C
|
rs1053014986
|
0.00095
|
NM_005476.7(GNE):c.*1728C>T
|
rs41277097
|
0.00070
|
NM_005476.7(GNE):c.1267A>G (p.Ile423Val)
|
rs35638832
|
0.00066
|
NM_005476.7(GNE):c.*2679G>A
|
rs566044462
|
0.00054
|
NM_005476.7(GNE):c.2004C>T (p.Ser668=)
|
rs150045137
|
0.00038
|
NM_005476.7(GNE):c.1509C>G (p.Pro503=)
|
rs141172610
|
0.00036
|
NM_005476.7(GNE):c.*446C>T
|
rs886063924
|
0.00029
|
NM_005476.7(GNE):c.*582A>G
|
rs999645453
|
0.00026
|
NM_005476.7(GNE):c.1933+3G>A
|
rs370730412
|
0.00021
|
NM_005476.7(GNE):c.*1575C>T
|
rs761447556
|
0.00019
|
NM_005476.7(GNE):c.*208T>C
|
rs771508931
|
0.00019
|
NM_005476.7(GNE):c.*1007G>A
|
rs1192808563
|
0.00017
|
NM_005476.7(GNE):c.*1038T>C
|
rs975309543
|
0.00014
|
NM_005476.7(GNE):c.*252A>C
|
rs745365886
|
0.00012
|
NM_005476.7(GNE):c.*2537G>A
|
rs1042849497
|
0.00011
|
NM_005476.7(GNE):c.*2847T>C
|
rs886063915
|
0.00010
|
NM_005476.7(GNE):c.*2877T>C
|
rs886063914
|
0.00010
|
NM_005476.7(GNE):c.1412-4G>A
|
rs146067766
|
0.00009
|
NM_005476.7(GNE):c.1442G>A (p.Arg481Gln)
|
rs138357804
|
0.00009
|
NM_005476.7(GNE):c.1412-5C>T
|
rs369078814
|
0.00008
|
NM_005476.7(GNE):c.165-9C>T
|
rs760509369
|
0.00008
|
NM_005476.7(GNE):c.1651A>G (p.Ile551Val)
|
rs754313408
|
0.00008
|
NM_005476.7(GNE):c.1293T>A (p.Val431=)
|
rs143485388
|
0.00007
|
NM_005476.7(GNE):c.*2448A>G
|
rs757287887
|
0.00006
|
NM_005476.7(GNE):c.*573G>A
|
rs1032415165
|
0.00006
|
NM_005476.7(GNE):c.1070+5G>A
|
rs374170125
|
0.00006
|
NM_005476.7(GNE):c.1871C>T (p.Ala624Val)
|
rs200278654
|
0.00006
|
NM_005476.7(GNE):c.*872C>T
|
rs1008750814
|
0.00005
|
NM_005476.7(GNE):c.1234G>A (p.Val412Ile)
|
rs369714039
|
0.00004
|
NM_005476.7(GNE):c.1429C>T (p.Arg477Cys)
|
rs551854437
|
0.00004
|
NM_005476.7(GNE):c.1572G>A (p.Ala524=)
|
rs112824871
|
0.00004
|
NM_005476.7(GNE):c.1767A>G (p.Ala589=)
|
rs777310871
|
0.00004
|
NM_005476.7(GNE):c.1908G>A (p.Ala636=)
|
rs200812140
|
0.00004
|
NM_005476.7(GNE):c.598A>T (p.Ile200Phe)
|
rs369328625
|
0.00004
|
NM_005476.7(GNE):c.725C>T (p.Ser242Leu)
|
rs771167726
|
0.00004
|
NM_005476.7(GNE):c.828T>C (p.Phe276=)
|
rs770346895
|
0.00004
|
NM_001128227.3(GNE):c.43G>C (p.Gly15Arg)
|
rs762425552
|
0.00003
|
NM_005476.7(GNE):c.*2245A>T
|
rs1193929989
|
0.00003
|
NM_005476.7(GNE):c.*512C>T
|
rs537851886
|
0.00003
|
NM_005476.7(GNE):c.*554G>A
|
rs755277976
|
0.00003
|
NM_005476.7(GNE):c.1070+7A>G
|
rs149675783
|
0.00003
|
NM_005476.7(GNE):c.1413C>T (p.Gly471=)
|
rs142836733
|
0.00003
|
NM_005476.7(GNE):c.1634-4G>T
|
rs1021602666
|
0.00003
|
NM_005476.7(GNE):c.1816+4G>C
|
rs760700813
|
0.00003
|
NM_005476.7(GNE):c.1907C>T (p.Ala636Val)
|
rs756488394
|
0.00003
|
NM_005476.7(GNE):c.2044G>A (p.Val682Ile)
|
rs768384042
|
0.00003
|
NM_005476.7(GNE):c.673G>A (p.Asp225Asn)
|
rs121908630
|
0.00003
|
NM_001128227.3(GNE):c.23A>G (p.Gln8Arg)
|
rs765794816
|
0.00002
|
NM_005476.7(GNE):c.*2431A>G
|
rs917794045
|
0.00002
|
NM_005476.7(GNE):c.*2766T>C
|
rs886063916
|
0.00002
|
NM_005476.7(GNE):c.1003C>T (p.Arg335Trp)
|
rs150132839
|
0.00002
|
NM_005476.7(GNE):c.1246G>A (p.Gly416Arg)
|
rs866841518
|
0.00002
|
NM_005476.7(GNE):c.1319A>C (p.Lys440Thr)
|
rs769745306
|
0.00002
|
NM_005476.7(GNE):c.1598G>A (p.Gly533Glu)
|
rs201808007
|
0.00002
|
NM_005476.7(GNE):c.1622T>C (p.Ile541Thr)
|
rs369119154
|
0.00002
|
NM_005476.7(GNE):c.1681T>G (p.Ser561Ala)
|
rs776760528
|
0.00002
|
NM_005476.7(GNE):c.2005G>A (p.Gly669Arg)
|
rs776384541
|
0.00002
|
NM_005476.7(GNE):c.2029C>T (p.His677Tyr)
|
rs527267621
|
0.00002
|
NM_001128227.3(GNE):c.52-9097C>T
|
rs886063929
|
0.00001
|
NM_001128227.3(GNE):c.78A>T (p.Lys26Asn)
|
rs767777879
|
0.00001
|
NM_005476.7(GNE):c.*2453C>A
|
rs1163596916
|
0.00001
|
NM_005476.7(GNE):c.*2550G>A
|
rs191345940
|
0.00001
|
NM_005476.7(GNE):c.*2709T>C
|
rs1390610132
|
0.00001
|
NM_005476.7(GNE):c.*513G>A
|
rs886063923
|
0.00001
|
NM_005476.7(GNE):c.1250C>T (p.Thr417Met)
|
rs1554659711
|
0.00001
|
NM_005476.7(GNE):c.1251G>A (p.Thr417=)
|
rs758086020
|
0.00001
|
NM_005476.7(GNE):c.127G>A (p.Val43Ile)
|
rs1223454836
|
0.00001
|
NM_005476.7(GNE):c.1310T>C (p.Phe437Ser)
|
rs370478702
|
0.00001
|
NM_005476.7(GNE):c.1327G>A (p.Glu443Lys)
|
rs1337925138
|
0.00001
|
NM_005476.7(GNE):c.1354A>G (p.Met452Val)
|
rs746051210
|
0.00001
|
NM_005476.7(GNE):c.1634-8C>T
|
rs756876449
|
0.00001
|
NM_005476.7(GNE):c.1639G>T (p.Gly547Cys)
|
rs1306768272
|
0.00001
|
NM_005476.7(GNE):c.1666T>C (p.Leu556=)
|
rs765440649
|
0.00001
|
NM_005476.7(GNE):c.1675G>A (p.Gly559Arg)
|
rs762009737
|
0.00001
|
NM_005476.7(GNE):c.1807C>T (p.Leu603Phe)
|
rs372732220
|
0.00001
|
NM_005476.7(GNE):c.2008G>T (p.Val670Phe)
|
rs746449874
|
0.00001
|
NM_005476.7(GNE):c.2079C>T (p.Asp693=)
|
rs548244588
|
0.00001
|
NM_005476.7(GNE):c.2096C>T (p.Ser699Leu)
|
rs552758282
|
0.00001
|
NM_005476.7(GNE):c.2097G>A (p.Ser699=)
|
rs200490682
|
0.00001
|
NM_005476.7(GNE):c.2113G>A (p.Ala705Thr)
|
rs201216576
|
0.00001
|
NM_005476.7(GNE):c.301C>T (p.Arg101Cys)
|
rs148523065
|
0.00001
|
NM_005476.7(GNE):c.466T>C (p.Tyr156His)
|
rs794727505
|
0.00001
|
NM_005476.7(GNE):c.530G>A (p.Arg177His)
|
rs772597073
|
0.00001
|
NM_005476.7(GNE):c.612G>A (p.Trp204Ter)
|
rs786204476
|
0.00001
|
NM_001128227.2(GNE):c.-60_-59delAA
|
rs751222162
|
|
NM_001128227.2(GNE):c.-97T>G
|
rs757093701
|
|
NM_001128227.3(GNE):c.3G>A (p.Met1Ile)
|
rs1554668704
|
|
NM_001128227.3(GNE):c.4G>A (p.Glu2Lys)
|
rs1403279875
|
|
NM_001128227.3(GNE):c.52-9070C>T
|
rs886063928
|
|
NM_001128227.3(GNE):c.79C>T (p.Arg27Ter)
|
rs794727279
|
|
NM_001128227.3(GNE):c.82_83dup (p.Asn28fs)
|
rs1554664095
|
|
NM_005476.7(GNE):c.*1012CA[10]
|
rs10527967
|
|
NM_005476.7(GNE):c.*1012CA[14]
|
rs10527967
|
|
NM_005476.7(GNE):c.*1012CA[15]
|
rs10527967
|
|
NM_005476.7(GNE):c.*1012CA[16]
|
rs10527967
|
|
NM_005476.7(GNE):c.*1012CA[22]
|
rs10527967
|
|
NM_005476.7(GNE):c.*1127C>T
|
rs1828268117
|
|
NM_005476.7(GNE):c.*1694G>C
|
rs886063918
|
|
NM_005476.7(GNE):c.*1854C>T
|
rs1828233358
|
|
NM_005476.7(GNE):c.*2185T>A
|
rs1828216707
|
|
NM_005476.7(GNE):c.*2410G>C
|
rs886063917
|
|
NM_005476.7(GNE):c.*2905_*2906del
|
rs886063913
|
|
NM_005476.7(GNE):c.*292C>G
|
rs1335595008
|
|
NM_005476.7(GNE):c.*663A>G
|
rs1373838375
|
|
NM_005476.7(GNE):c.*690T>A
|
rs10972792
|
|
NM_005476.7(GNE):c.*692AAT[10]
|
rs113316798
|
|
NM_005476.7(GNE):c.*692AAT[12]
|
rs113316798
|
|
NM_005476.7(GNE):c.*692AAT[13]
|
rs113316798
|
|
NM_005476.7(GNE):c.*692AAT[9]
|
rs113316798
|
|
NM_005476.7(GNE):c.*693A>T
|
rs886063922
|
|
NM_005476.7(GNE):c.*694T>A
|
rs867926432
|
|
NM_005476.7(GNE):c.*702dup
|
rs886063921
|
|
NM_005476.7(GNE):c.*988G>C
|
rs916769105
|
|
NM_005476.7(GNE):c.1039_1042delinsA (p.Leu347_His348delinsAsn)
|
rs1554660095
|
|
NM_005476.7(GNE):c.1057A>G (p.Lys353Glu)
|
rs1554660090
|
|
NM_005476.7(GNE):c.1099G>A (p.Val367Ile)
|
rs1554659769
|
|
NM_005476.7(GNE):c.1268T>G (p.Ile423Arg)
|
rs1313840587
|
|
NM_005476.7(GNE):c.1281+13C>A
|
rs1022557448
|
|
NM_005476.7(GNE):c.1281G>A (p.Lys427=)
|
rs1554659670
|
|
NM_005476.7(GNE):c.1301A>G (p.Tyr434Cys)
|
rs1447770049
|
|
NM_005476.7(GNE):c.1312A>G (p.Asn438Asp)
|
rs2133024785
|
|
NM_005476.7(GNE):c.1332G>C (p.Glu444Asp)
|
rs1554659040
|
|
NM_005476.7(GNE):c.1482G>A (p.Glu494=)
|
rs1485580233
|
|
NM_005476.7(GNE):c.1532C>T (p.Pro511Leu)
|
rs1414079876
|
|
NM_005476.7(GNE):c.1567C>A (p.Leu523Met)
|
rs1554658905
|
|
NM_005476.7(GNE):c.1567C>G (p.Leu523Val)
|
rs1554658905
|
|
NM_005476.7(GNE):c.1583T>G (p.Phe528Cys)
|
rs986773986
|
|
NM_005476.7(GNE):c.1609T>C (p.Phe537Leu)
|
|
|
NM_005476.7(GNE):c.1639G>A (p.Gly547Ser)
|
rs1306768272
|
|
NM_005476.7(GNE):c.1655A>G (p.His552Arg)
|
|
|
NM_005476.7(GNE):c.1670T>C (p.Ile557Thr)
|
rs886043979
|
|
NM_005476.7(GNE):c.1730C>G (p.Pro577Arg)
|
rs1828512489
|
|
NM_005476.7(GNE):c.1730C>T (p.Pro577Leu)
|
rs1828512489
|
|
NM_005476.7(GNE):c.1816+11del
|
rs886063925
|
|
NM_005476.7(GNE):c.1949G>A (p.Gly650Asp)
|
rs1299435942
|
|
NM_005476.7(GNE):c.1982A>G (p.Asn661Ser)
|
rs765173992
|
|
NM_005476.7(GNE):c.2050C>A (p.Arg684Ser)
|
rs139347806
|
|
NM_005476.7(GNE):c.2050C>T (p.Arg684Cys)
|
rs139347806
|
|
NM_005476.7(GNE):c.2086G>A (p.Val696Met)
|
rs121908627
|
|
NM_005476.7(GNE):c.2086G>T (p.Val696Leu)
|
rs121908627
|
|
NM_005476.7(GNE):c.2088GGT[1] (p.Val698del)
|
rs1554657956
|
|
NM_005476.7(GNE):c.2095T>A (p.Ser699Thr)
|
rs1828371895
|
|
NM_005476.7(GNE):c.211A>T (p.Arg71Trp)
|
rs886044539
|
|
NM_005476.7(GNE):c.27G>C (p.Lys9Asn)
|
|
|
NM_005476.7(GNE):c.2T>C (p.Met1Thr)
|
rs1554664086
|
|
NM_005476.7(GNE):c.315T>C (p.Asp105=)
|
rs886063927
|
|
NM_005476.7(GNE):c.392T>C (p.Leu131Pro)
|
|
|
NM_005476.7(GNE):c.469C>A (p.His157Asn)
|
rs1587339749
|
|
NM_005476.7(GNE):c.498G>C (p.Gln166His)
|
rs1829863461
|
|
NM_005476.7(GNE):c.605G>C (p.Arg202Pro)
|
|
|
NM_005476.7(GNE):c.620ATG[1] (p.Asp208del)
|
rs1554661574
|
|
NM_005476.7(GNE):c.6GAA[1] (p.Lys3del)
|
rs1554664082
|
|
NM_005476.7(GNE):c.710T>C (p.Leu237Ser)
|
rs886043407
|
|
NM_005476.7(GNE):c.711G>A (p.Leu237=)
|
rs724159957
|
|
NM_005476.7(GNE):c.748C>A (p.Leu250Met)
|
rs886042585
|
|
NM_005476.7(GNE):c.753T>C (p.Phe251=)
|
rs370479900
|
|
NM_005476.7(GNE):c.769+3dup
|
rs756817842
|
|
NM_005476.7(GNE):c.769+4A>G
|
rs886063926
|
|
NM_005476.7(GNE):c.910G>A (p.Gly304Arg)
|
rs755743750
|
|
NM_005476.7(GNE):c.952C>G (p.Leu318Val)
|
rs1554661032
|
|
NM_005476.7(GNE):c.992T>G (p.Val331Gly)
|
rs1554660119
|
|