NM_005476.7(GNE):c.*2391C>T
|
rs1043313
|
0.71766
|
NM_005476.7(GNE):c.*1781G>A
|
rs16933086
|
0.17302
|
NM_005476.7(GNE):c.*691A>T
|
rs10972791
|
0.11652
|
NM_005476.7(GNE):c.*1826G>C
|
rs7044157
|
0.10230
|
NM_005476.7(GNE):c.*630C>T
|
rs150102934
|
0.03992
|
NM_005476.7(GNE):c.600C>T (p.Ile200=)
|
rs7047950
|
0.02902
|
NM_005476.7(GNE):c.*1054C>A
|
rs7048468
|
0.01927
|
NM_005476.7(GNE):c.1770C>T (p.Tyr590=)
|
rs111302956
|
0.01688
|
NM_005476.7(GNE):c.*74G>A
|
rs16933089
|
0.01338
|
NM_005476.7(GNE):c.*2211C>G
|
rs150978860
|
0.01319
|
NM_005476.7(GNE):c.-65G>A
|
rs138897916
|
0.00463
|
NM_005476.7(GNE):c.*1068A>T
|
rs187875852
|
0.00423
|
NM_005476.7(GNE):c.*583G>A
|
rs182741472
|
0.00279
|
NM_005476.7(GNE):c.*1660A>G
|
rs185870650
|
0.00237
|
NM_005476.7(GNE):c.*2056C>T
|
rs183641957
|
0.00160
|
NM_005476.7(GNE):c.1872G>A (p.Ala624=)
|
rs145361930
|
0.00126
|
NM_005476.7(GNE):c.-102G>C
|
rs1053014986
|
0.00095
|
NM_005476.7(GNE):c.*1635G>A
|
rs190727651
|
0.00080
|
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.*2576A>G
|
rs531142218
|
0.00063
|
NM_005476.7(GNE):c.*2679G>A
|
rs566044462
|
0.00054
|
NM_005476.7(GNE):c.*446C>T
|
rs886063924
|
0.00029
|
NM_005476.7(GNE):c.*2789G>A
|
rs140396892
|
0.00026
|
NM_005476.7(GNE):c.*582A>G
|
rs999645453
|
0.00026
|
NM_005476.7(GNE):c.-152G>T
|
rs142004500
|
0.00026
|
NM_005476.7(GNE):c.1132G>T (p.Asp378Tyr)
|
rs199877522
|
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.*2415T>A
|
rs143569888
|
0.00017
|
NM_005476.7(GNE):c.*1038T>C
|
rs975309543
|
0.00014
|
NM_005476.7(GNE):c.*2269C>T
|
rs575299401
|
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.165-9C>T
|
rs760509369
|
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.1281+6A>T
|
rs201025841
|
0.00006
|
NM_005476.7(GNE):c.*872C>T
|
rs1008750814
|
0.00005
|
NM_005476.7(GNE):c.*1204T>C
|
rs183365416
|
0.00004
|
NM_005476.7(GNE):c.1234G>A (p.Val412Ile)
|
rs369714039
|
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.*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.-51C>T
|
rs368282013
|
0.00003
|
NM_005476.7(GNE):c.527A>T (p.Asp176Val)
|
rs139425890
|
0.00003
|
NM_005476.7(GNE):c.*2431A>G
|
rs917794045
|
0.00002
|
NM_005476.7(GNE):c.*2766T>C
|
rs886063916
|
0.00002
|
NM_001128227.3(GNE):c.52-9097C>T
|
rs886063929
|
0.00001
|
NM_005476.7(GNE):c.*1021A>G
|
rs10435799
|
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.1251G>A (p.Thr417=)
|
rs758086020
|
0.00001
|
NM_005476.7(GNE):c.1639G>T (p.Gly547Cys)
|
rs1306768272
|
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.530G>A (p.Arg177His)
|
rs772597073
|
0.00001
|
NM_005476.7(GNE):c.612G>A (p.Trp204Ter)
|
rs786204476
|
0.00001
|
NM_001128227.3(GNE):c.52-9070C>T
|
rs886063928
|
|
NM_001128227.3(GNE):c.79C>T (p.Arg27Ter)
|
rs794727279
|
|
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.*2156G>C
|
rs2741725
|
|
NM_005476.7(GNE):c.*2185T>A
|
rs1828216707
|
|
NM_005476.7(GNE):c.*2196dup
|
rs199874473
|
|
NM_005476.7(GNE):c.*2410G>C
|
rs886063917
|
|
NM_005476.7(GNE):c.*277ATA[1]
|
rs140089561
|
|
NM_005476.7(GNE):c.*2905_*2906del
|
rs886063913
|
|
NM_005476.7(GNE):c.*292C>G
|
rs1335595008
|
|
NM_005476.7(GNE):c.*30C>G
|
rs540975887
|
|
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.*936C>T
|
rs56974443
|
|
NM_005476.7(GNE):c.*937G>A
|
rs191229205
|
|
NM_005476.7(GNE):c.*988G>C
|
rs916769105
|
|
NM_005476.7(GNE):c.1281+13C>A
|
rs1022557448
|
|
NM_005476.7(GNE):c.1482G>A (p.Glu494=)
|
rs1485580233
|
|
NM_005476.7(GNE):c.1816+11del
|
rs886063925
|
|
NM_005476.7(GNE):c.2086G>T (p.Val696Leu)
|
rs121908627
|
|
NM_005476.7(GNE):c.315T>C (p.Asp105=)
|
rs886063927
|
|
NM_005476.7(GNE):c.753T>C (p.Phe251=)
|
rs370479900
|
|
NM_005476.7(GNE):c.769+4A>G
|
rs886063926
|
|