NM_001114753.3(ENG):c.207G>A (p.Leu69=)
|
rs11545664
|
0.14184
|
NM_001114753.3(ENG):c.1029C>T (p.Thr343=)
|
rs3739817
|
0.06792
|
NM_001114753.3(ENG):c.14C>T (p.Thr5Met)
|
rs35400405
|
0.04608
|
NM_001114753.3(ENG):c.1060C>T (p.Leu354=)
|
rs36092484
|
0.03618
|
NM_001114753.3(ENG):c.1794T>C (p.Gly598=)
|
rs41358947
|
0.01435
|
NM_001114753.3(ENG):c.572G>A (p.Gly191Asp)
|
rs41322046
|
0.01000
|
NM_001114753.3(ENG):c.1932C>T (p.Ile644=)
|
rs181330955
|
0.00609
|
NM_001114753.3(ENG):c.120C>T (p.Gly40=)
|
rs41522944
|
0.00355
|
NM_001114753.3(ENG):c.1096G>C (p.Asp366His)
|
rs1800956
|
0.00353
|
NM_001114753.3(ENG):c.1844C>T (p.Ser615Leu)
|
rs148002300
|
0.00134
|
NM_001114753.3(ENG):c.732C>T (p.Pro244=)
|
rs112262663
|
0.00124
|
NM_001114753.3(ENG):c.180C>A (p.Ala60=)
|
rs146188464
|
0.00117
|
NM_001114753.3(ENG):c.225G>A (p.Pro75=)
|
rs116146060
|
0.00091
|
NM_001114753.3(ENG):c.617G>C (p.Gly206Ala)
|
rs201393380
|
0.00080
|
NM_001114753.3(ENG):c.392C>T (p.Pro131Leu)
|
rs139398993
|
0.00077
|
NM_001114753.3(ENG):c.234G>A (p.Leu78=)
|
rs115675061
|
0.00076
|
NM_001114753.3(ENG):c.159C>T (p.Cys53=)
|
rs148475405
|
0.00056
|
NM_001114753.3(ENG):c.687C>T (p.Ala229=)
|
rs376919650
|
0.00042
|
NM_001114753.3(ENG):c.-9G>A
|
rs368423516
|
0.00040
|
NM_001114753.3(ENG):c.640G>A (p.Gly214Ser)
|
rs150932144
|
0.00034
|
NM_001114753.3(ENG):c.1095C>T (p.Asp365=)
|
rs142803546
|
0.00026
|
NM_001114753.3(ENG):c.7C>T (p.Arg3Cys)
|
rs139334561
|
0.00024
|
NM_001114753.3(ENG):c.388C>T (p.Pro130Ser)
|
rs199840979
|
0.00021
|
NM_001114753.3(ENG):c.250G>C (p.Ala84Pro)
|
rs369456364
|
0.00019
|
NM_001114753.3(ENG):c.954G>A (p.Pro318=)
|
rs149590262
|
0.00019
|
NM_001114753.3(ENG):c.694C>T (p.Arg232Trp)
|
rs200372420
|
0.00014
|
NM_001114753.3(ENG):c.306C>T (p.Asn102=)
|
rs148098047
|
0.00012
|
NM_001114753.3(ENG):c.726C>T (p.Cys242=)
|
rs545465750
|
0.00012
|
NM_001114753.3(ENG):c.850G>A (p.Glu284Lys)
|
rs372045549
|
0.00010
|
NM_001114753.3(ENG):c.1133C>T (p.Ala378Val)
|
rs143054595
|
0.00009
|
NM_001114753.3(ENG):c.1098C>T (p.Asp366=)
|
rs201497772
|
0.00008
|
NM_001114753.3(ENG):c.634G>A (p.Val212Met)
|
rs370652082
|
0.00008
|
NM_001114753.3(ENG):c.690-4G>A
|
rs762621671
|
0.00008
|
NM_001114753.3(ENG):c.121G>A (p.Glu41Lys)
|
rs199675436
|
0.00007
|
NM_001114753.3(ENG):c.1762G>A (p.Val588Ile)
|
rs201768056
|
0.00007
|
NM_001114753.3(ENG):c.218C>T (p.Thr73Met)
|
rs200960408
|
0.00005
|
NM_001114753.3(ENG):c.654G>A (p.Ala218=)
|
rs773156160
|
0.00005
|
NM_001114753.3(ENG):c.1761C>T (p.Leu587=)
|
rs546872552
|
0.00004
|
NM_001114753.3(ENG):c.1851G>A (p.Thr617=)
|
rs747344646
|
0.00004
|
NM_001114753.3(ENG):c.705G>A (p.Thr235=)
|
rs755116051
|
0.00004
|
NM_001114753.3(ENG):c.9C>T (p.Arg3=)
|
rs752431673
|
0.00004
|
NM_001114753.3(ENG):c.1093G>A (p.Asp365Asn)
|
rs548690138
|
0.00003
|
NM_001114753.3(ENG):c.1134G>A (p.Ala378=)
|
rs1329127701
|
0.00003
|
NM_001114753.3(ENG):c.405C>G (p.Thr135=)
|
rs773521685
|
0.00003
|
NM_001114753.3(ENG):c.45C>G (p.Ala15=)
|
rs768137759
|
0.00003
|
NM_001114753.3(ENG):c.999G>A (p.Arg333=)
|
rs371174838
|
0.00003
|
NM_001114753.3(ENG):c.1806C>T (p.Ile602=)
|
rs373002544
|
0.00002
|
NM_001114753.3(ENG):c.338G>A (p.Gly113Glu)
|
rs1169024767
|
0.00002
|
NM_001114753.3(ENG):c.393G>A (p.Pro131=)
|
rs760121099
|
0.00002
|
NM_001114753.3(ENG):c.990C>T (p.Cys330=)
|
rs369202854
|
0.00002
|
NM_001114753.3(ENG):c.-10C>T
|
rs756994701
|
0.00001
|
NM_001114753.3(ENG):c.1014C>T (p.Pro338=)
|
rs1057522787
|
0.00001
|
NM_001114753.3(ENG):c.1056G>A (p.Pro352=)
|
rs769530262
|
0.00001
|
NM_001114753.3(ENG):c.1058A>G (p.Glu353Gly)
|
rs868730895
|
0.00001
|
NM_001114753.3(ENG):c.1092C>T (p.Ala364=)
|
rs375427398
|
0.00001
|
NM_001114753.3(ENG):c.111C>T (p.Pro37=)
|
rs755626994
|
0.00001
|
NM_001114753.3(ENG):c.524-2A>G
|
rs1060501414
|
0.00001
|
NM_001114753.3(ENG):c.575G>A (p.Arg192His)
|
rs1029569378
|
0.00001
|
NM_001114753.3(ENG):c.579G>A (p.Thr193=)
|
rs769703434
|
0.00001
|
NM_001114753.3(ENG):c.582C>T (p.Leu194=)
|
rs140663846
|
0.00001
|
NM_001114753.3(ENG):c.613C>T (p.Arg205Trp)
|
rs762209698
|
0.00001
|
NM_001114753.3(ENG):c.675G>A (p.Pro225=)
|
rs757608428
|
0.00001
|
NM_001114753.3(ENG):c.684G>A (p.Ser228=)
|
rs368752783
|
0.00001
|
NM_001114753.3(ENG):c.691C>A (p.Pro231Thr)
|
rs769339049
|
0.00001
|
NM_001114753.3(ENG):c.768C>T (p.Pro256=)
|
rs780493782
|
0.00001
|
NM_001114753.3(ENG):c.786C>T (p.Leu262=)
|
rs368800416
|
0.00001
|
NM_001114753.3(ENG):c.790G>A (p.Asp264Asn)
|
rs1210433339
|
0.00001
|
NM_001114753.3(ENG):c.792C>T (p.Asp264=)
|
rs763763510
|
0.00001
|
NM_001114753.3(ENG):c.831C>T (p.Tyr277=)
|
rs121918400
|
0.00001
|
NM_001114753.3(ENG):c.943G>A (p.Val315Met)
|
rs763508329
|
0.00001
|
NM_001114753.3(ENG):c.-127C>T
|
rs1060501408
|
|
NM_001114753.3(ENG):c.-58G>A
|
|
|
NM_001114753.3(ENG):c.1002_1003delinsCT (p.Gln335Ter)
|
|
|
NM_001114753.3(ENG):c.1003C>T (p.Gln335Ter)
|
|
|
NM_001114753.3(ENG):c.1042_1054del (p.Asp348fs)
|
|
|
NM_001114753.3(ENG):c.1064T>C (p.Leu355Pro)
|
|
|
NM_001114753.3(ENG):c.1071_1080dup (p.Thr361fs)
|
|
|
NM_001114753.3(ENG):c.1077C>A (p.Ile359=)
|
rs1830549327
|
|
NM_001114753.3(ENG):c.1080_1083del (p.Thr361fs)
|
rs863223540
|
|
NM_001114753.3(ENG):c.1084_1085del (p.Lys362fs)
|
rs1554810051
|
|
NM_001114753.3(ENG):c.1088G>A (p.Cys363Tyr)
|
|
|
NM_001114753.3(ENG):c.1088dup (p.Cys363fs)
|
|
|
NM_001114753.3(ENG):c.1099G>A (p.Ala367Thr)
|
|
|
NM_001114753.3(ENG):c.1099_1102del (p.Asp366_Ala367insTer)
|
|
|
NM_001114753.3(ENG):c.1104del (p.Met368fs)
|
|
|
NM_001114753.3(ENG):c.1109T>C (p.Leu370Pro)
|
|
|
NM_001114753.3(ENG):c.1120A>G (p.Lys374Glu)
|
|
|
NM_001114753.3(ENG):c.1121_1122delinsGC (p.Lys374Ser)
|
rs2131885751
|
|
NM_001114753.3(ENG):c.1121_1124del (p.Lys374fs)
|
rs1064793734
|
|
NM_001114753.3(ENG):c.1122_1125del (p.Lys374fs)
|
|
|
NM_001114753.3(ENG):c.1130T>C (p.Val377Ala)
|
|
|
NM_001114753.3(ENG):c.1134+1G>T
|
|
|
NM_001114753.3(ENG):c.121G>T (p.Glu41Ter)
|
|
|
NM_001114753.3(ENG):c.145G>T (p.Val49Phe)
|
rs1252348200
|
|
NM_001114753.3(ENG):c.154G>C (p.Gly52Arg)
|
|
|
NM_001114753.3(ENG):c.155G>A (p.Gly52Asp)
|
rs1564462765
|
|
NM_001114753.3(ENG):c.157T>C (p.Cys53Arg)
|
|
|
NM_001114753.3(ENG):c.159C>A (p.Cys53Ter)
|
rs148475405
|
|
NM_001114753.3(ENG):c.171C>T (p.Ala57=)
|
|
|
NM_001114753.3(ENG):c.1770C>T (p.Pro590=)
|
rs370943570
|
|
NM_001114753.3(ENG):c.179_180delinsAA (p.Ala60Glu)
|
rs1060504230
|
|
NM_001114753.3(ENG):c.1807G>A (p.Gly603Arg)
|
rs1830302008
|
|
NM_001114753.3(ENG):c.1821T>C (p.Thr607=)
|
|
|
NM_001114753.3(ENG):c.1845G>T (p.Ser615=)
|
rs759950184
|
|
NM_001114753.3(ENG):c.1857C>A (p.Ser619=)
|
|
|
NM_001114753.3(ENG):c.1860C>A (p.Pro620=)
|
|
|
NM_001114753.3(ENG):c.1868G>A (p.Arg623Gln)
|
|
|
NM_001114753.3(ENG):c.1883C>T (p.Ala628Val)
|
|
|
NM_001114753.3(ENG):c.1884G>A (p.Ala628=)
|
|
|
NM_001114753.3(ENG):c.1890T>G (p.Ala630=)
|
|
|
NM_001114753.3(ENG):c.1900T>G (p.Ser634Ala)
|
|
|
NM_001114753.3(ENG):c.1904C>T (p.Ser635Leu)
|
|
|
NM_001114753.3(ENG):c.1905G>A (p.Ser635=)
|
|
|
NM_001114753.3(ENG):c.1920C>G (p.Thr640=)
|
|
|
NM_001114753.3(ENG):c.1923C>T (p.Asn641=)
|
|
|
NM_001114753.3(ENG):c.1926C>T (p.His642=)
|
|
|
NM_001114753.3(ENG):c.1934G>C (p.Gly645Ala)
|
|
|
NM_001114753.3(ENG):c.1935G>A (p.Gly645=)
|
|
|
NM_001114753.3(ENG):c.1962C>A (p.Thr654=)
|
|
|
NM_001114753.3(ENG):c.1A>G (p.Met1Val)
|
rs1060501418
|
|
NM_001114753.3(ENG):c.205del (p.Leu69fs)
|
|
|
NM_001114753.3(ENG):c.219+1G>A
|
rs1554812253
|
|
NM_001114753.3(ENG):c.219+2T>C
|
rs2131918332
|
|
NM_001114753.3(ENG):c.219+5G>A
|
rs1554812252
|
|
NM_001114753.3(ENG):c.219G>A (p.Thr73=)
|
rs755348996
|
|
NM_001114753.3(ENG):c.224del (p.Pro75fs)
|
rs1554810932
|
|
NM_001114753.3(ENG):c.229C>T (p.Gln77Ter)
|
rs1588585997
|
|
NM_001114753.3(ENG):c.232C>T (p.Leu78=)
|
rs1060504229
|
|
NM_001114753.3(ENG):c.235G>T (p.Glu79Ter)
|
rs763992842
|
|
NM_001114753.3(ENG):c.238C>T (p.Leu80=)
|
|
|
NM_001114753.3(ENG):c.239T>A (p.Leu80Gln)
|
|
|
NM_001114753.3(ENG):c.239del (p.Leu80fs)
|
|
|
NM_001114753.3(ENG):c.23T>C (p.Leu8Pro)
|
rs1564466414
|
|
NM_001114753.3(ENG):c.247C>T (p.Gln83Ter)
|
rs863223532
|
|
NM_001114753.3(ENG):c.249G>T (p.Gln83His)
|
|
|
NM_001114753.3(ENG):c.258del (p.Lys86fs)
|
|
|
NM_001114753.3(ENG):c.263del (p.Asn88fs)
|
|
|
NM_001114753.3(ENG):c.272G>A (p.Trp91Ter)
|
|
|
NM_001114753.3(ENG):c.277C>T (p.Arg93Ter)
|
rs886039506
|
|
NM_001114753.3(ENG):c.277dup (p.Arg93fs)
|
rs1830717066
|
|
NM_001114753.3(ENG):c.282G>A (p.Glu94=)
|
|
|
NM_001114753.3(ENG):c.291G>T (p.Leu97=)
|
|
|
NM_001114753.3(ENG):c.293T>A (p.Val98Asp)
|
rs1830715947
|
|
NM_001114753.3(ENG):c.2T>C (p.Met1Thr)
|
rs267606783
|
|
NM_001114753.3(ENG):c.312T>C (p.Ser104=)
|
|
|
NM_001114753.3(ENG):c.313_314del (p.Val105fs)
|
|
|
NM_001114753.3(ENG):c.315C>T (p.Val105=)
|
rs1489927188
|
|
NM_001114753.3(ENG):c.321_322delinsTT (p.His108Tyr)
|
rs1060501425
|
|
NM_001114753.3(ENG):c.33C>T (p.Ala11=)
|
|
|
NM_001114753.3(ENG):c.35T>C (p.Leu12Pro)
|
rs1829096574
|
|
NM_001114753.3(ENG):c.360+1G>A
|
rs886039505
|
|
NM_001114753.3(ENG):c.360+1G>C
|
rs886039505
|
|
NM_001114753.3(ENG):c.360+1G>T
|
rs886039505
|
|
NM_001114753.3(ENG):c.360+2dup
|
|
|
NM_001114753.3(ENG):c.360+5G>A
|
rs1060501417
|
|
NM_001114753.3(ENG):c.360+5G>C
|
rs1060501417
|
|
NM_001114753.3(ENG):c.361-2A>G
|
|
|
NM_001114753.3(ENG):c.361-2A>T
|
|
|
NM_001114753.3(ENG):c.391_392dup (p.Gly132fs)
|
|
|
NM_001114753.3(ENG):c.3G>T (p.Met1Ile)
|
|
|
NM_001114753.3(ENG):c.402C>T (p.Asn134=)
|
|
|
NM_001114753.3(ENG):c.417A>C (p.Pro139=)
|
rs748286907
|
|
NM_001114753.3(ENG):c.439_440insAAGC (p.Leu147fs)
|
|
|
NM_001114753.3(ENG):c.445dup (p.Trp149fs)
|
|
|
NM_001114753.3(ENG):c.446G>A (p.Trp149Ter)
|
rs863223534
|
|
NM_001114753.3(ENG):c.447G>A (p.Trp149Ter)
|
|
|
NM_001114753.3(ENG):c.447G>C (p.Trp149Cys)
|
rs878853657
|
|
NM_001114753.3(ENG):c.451_470delinsTCTGCTG (p.Ala151fs)
|
|
|
NM_001114753.3(ENG):c.457_458del (p.Arg153fs)
|
rs2131890509
|
|
NM_001114753.3(ENG):c.457_458dup (p.Pro155fs)
|
|
|
NM_001114753.3(ENG):c.457dup (p.Arg153fs)
|
|
|
NM_001114753.3(ENG):c.493C>G (p.Pro165Ala)
|
|
|
NM_001114753.3(ENG):c.496dup (p.Gln166fs)
|
rs1830620247
|
|
NM_001114753.3(ENG):c.502A>T (p.Ile168Phe)
|
|
|
NM_001114753.3(ENG):c.503TCC[2] (p.Leu170del)
|
|
|
NM_001114753.3(ENG):c.506T>C (p.Leu169Pro)
|
|
|
NM_001114753.3(ENG):c.511C>T (p.Arg171Ter)
|
rs1554810490
|
|
NM_001114753.3(ENG):c.512G>C (p.Arg171Pro)
|
rs756980265
|
|
NM_001114753.3(ENG):c.516G>A (p.Leu172=)
|
|
|
NM_001114753.3(ENG):c.523+1G>A
|
rs113930974
|
|
NM_001114753.3(ENG):c.523+1G>C
|
rs113930974
|
|
NM_001114753.3(ENG):c.523+5G>C
|
|
|
NM_001114753.3(ENG):c.523G>A (p.Ala175Thr)
|
|
|
NM_001114753.3(ENG):c.523G>C (p.Ala175Pro)
|
|
|
NM_001114753.3(ENG):c.524-1G>T
|
|
|
NM_001114753.3(ENG):c.545G>A (p.Cys182Tyr)
|
|
|
NM_001114753.3(ENG):c.558del (p.Ser187fs)
|
rs2131889490
|
|
NM_001114753.3(ENG):c.562C>T (p.Gln188Ter)
|
rs863223537
|
|
NM_001114753.3(ENG):c.564G>A (p.Gln188=)
|
|
|
NM_001114753.3(ENG):c.565G>A (p.Asp189Asn)
|
rs147792018
|
|
NM_001114753.3(ENG):c.569T>A (p.Met190Lys)
|
rs1830602163
|
|
NM_001114753.3(ENG):c.581T>C (p.Leu194Pro)
|
rs2131889364
|
|
NM_001114753.3(ENG):c.581_582del (p.Leu194fs)
|
|
|
NM_001114753.3(ENG):c.582_583insCATG (p.Glu195fs)
|
|
|
NM_001114753.3(ENG):c.582_584del (p.Glu195del)
|
|
|
NM_001114753.3(ENG):c.586T>C (p.Trp196Arg)
|
rs2131889336
|
|
NM_001114753.3(ENG):c.587G>A (p.Trp196Ter)
|
rs1588582870
|
|
NM_001114753.3(ENG):c.591G>A (p.Arg197=)
|
|
|
NM_001114753.3(ENG):c.595dup (p.Arg199fs)
|
|
|
NM_001114753.3(ENG):c.614G>C (p.Arg205Pro)
|
|
|
NM_001114753.3(ENG):c.615G>A (p.Arg205=)
|
|
|
NM_001114753.3(ENG):c.617del (p.Gly206fs)
|
rs1830599423
|
|
NM_001114753.3(ENG):c.619T>C (p.Cys207Arg)
|
rs2131889169
|
|
NM_001114753.3(ENG):c.619del (p.Cys207fs)
|
|
|
NM_001114753.3(ENG):c.626T>A (p.Leu209Ter)
|
rs1243079862
|
|
NM_001114753.3(ENG):c.635_654del (p.Val212fs)
|
|
|
NM_001114753.3(ENG):c.63del (p.Thr22fs)
|
|
|
NM_001114753.3(ENG):c.640_643del (p.Gly214fs)
|
rs864622666
|
|
NM_001114753.3(ENG):c.647del (p.Lys216fs)
|
|
|
NM_001114753.3(ENG):c.659T>C (p.Ile220Thr)
|
rs1588582695
|
|
NM_001114753.3(ENG):c.662T>C (p.Leu221Pro)
|
rs1554810378
|
|
NM_001114753.3(ENG):c.663G>A (p.Leu221=)
|
rs747788064
|
|
NM_001114753.3(ENG):c.67+1G>A
|
rs1554813783
|
|
NM_001114753.3(ENG):c.67+2T>C
|
rs2131936480
|
|
NM_001114753.3(ENG):c.674del (p.Pro225fs)
|
rs1830596596
|
|
NM_001114753.3(ENG):c.674dup (p.His227fs)
|
|
|
NM_001114753.3(ENG):c.68-1G>A
|
rs878853659
|
|
NM_001114753.3(ENG):c.681C>T (p.His227=)
|
|
|
NM_001114753.3(ENG):c.689+1G>T
|
|
|
NM_001114753.3(ENG):c.690-1G>A
|
rs1554810272
|
|
NM_001114753.3(ENG):c.692C>A (p.Pro231His)
|
rs1289232116
|
|
NM_001114753.3(ENG):c.694_699del (p.Arg232_Thr233del)
|
rs2131888057
|
|
NM_001114753.3(ENG):c.699G>A (p.Thr233=)
|
|
|
NM_001114753.3(ENG):c.700dup (p.Val234fs)
|
|
|
NM_001114753.3(ENG):c.701_705dup (p.Val236Ter)
|
|
|
NM_001114753.3(ENG):c.707T>A (p.Val236Glu)
|
rs1588582073
|
|
NM_001114753.3(ENG):c.707T>C (p.Val236Ala)
|
|
|
NM_001114753.3(ENG):c.713T>A (p.Val238Glu)
|
rs1060501415
|
|
NM_001114753.3(ENG):c.715dup (p.Glu239fs)
|
rs1554810257
|
|
NM_001114753.3(ENG):c.716A>G (p.Glu239Gly)
|
|
|
NM_001114753.3(ENG):c.720G>C (p.Leu240=)
|
|
|
NM_001114753.3(ENG):c.721_725del (p.Ser241fs)
|
rs1064794219
|
|
NM_001114753.3(ENG):c.729A>C (p.Ala243=)
|
rs1242657224
|
|
NM_001114753.3(ENG):c.740del (p.Leu247fs)
|
|
|
NM_001114753.3(ENG):c.743del (p.Asp248fs)
|
rs1588581961
|
|
NM_001114753.3(ENG):c.752T>A (p.Leu251His)
|
|
|
NM_001114753.3(ENG):c.764G>T (p.Gly255Val)
|
rs2131887828
|
|
NM_001114753.3(ENG):c.766_767delinsA (p.Pro256fs)
|
|
|
NM_001114753.3(ENG):c.767_786del (p.Pro256fs)
|
rs2131887701
|
|
NM_001114753.3(ENG):c.771del (p.Tyr258fs)
|
rs1588581902
|
|
NM_001114753.3(ENG):c.771dup (p.Tyr258fs)
|
rs1588581902
|
|
NM_001114753.3(ENG):c.772del (p.Tyr258fs)
|
rs1830580093
|
|
NM_001114753.3(ENG):c.776del (p.Val259fs)
|
rs1588581880
|
|
NM_001114753.3(ENG):c.787_789del (p.Ile263del)
|
rs1830579035
|
|
NM_001114753.3(ENG):c.806T>A (p.Met269Lys)
|
rs752331196
|
|
NM_001114753.3(ENG):c.815G>A (p.Trp272Ter)
|
rs1588581785
|
|
NM_001114753.3(ENG):c.816+5G>C
|
|
|
NM_001114753.3(ENG):c.816G>A (p.Trp272Ter)
|
rs886041326
|
|
NM_001114753.3(ENG):c.817-1G>C
|
rs1564455715
|
|
NM_001114753.3(ENG):c.822del (p.Gly275fs)
|
|
|
NM_001114753.3(ENG):c.828del (p.Glu276fs)
|
|
|
NM_001114753.3(ENG):c.832T>C (p.Ser278Pro)
|
|
|
NM_001114753.3(ENG):c.841del (p.Ile281fs)
|
|
|
NM_001114753.3(ENG):c.858C>T (p.Asn286=)
|
|
|
NM_001114753.3(ENG):c.870C>T (p.Phe290=)
|
rs1830570141
|
|
NM_001114753.3(ENG):c.878del (p.Pro293fs)
|
|
|
NM_001114753.3(ENG):c.895del (p.Leu299fs)
|
rs1064795636
|
|
NM_001114753.3(ENG):c.899T>C (p.Leu300Pro)
|
rs1335718486
|
|
NM_001114753.3(ENG):c.89G>A (p.Cys30Tyr)
|
|
|
NM_001114753.3(ENG):c.904dup (p.Glu302fs)
|
rs1554810177
|
|
NM_001114753.3(ENG):c.906G>A (p.Glu302=)
|
|
|
NM_001114753.3(ENG):c.908C>A (p.Ala303Asp)
|
|
|
NM_001114753.3(ENG):c.909C>T (p.Ala303=)
|
rs200306464
|
|
NM_001114753.3(ENG):c.910del (p.Arg304fs)
|
|
|
NM_001114753.3(ENG):c.916del (p.Leu306fs)
|
|
|
NM_001114753.3(ENG):c.917T>C (p.Leu306Pro)
|
|
|
NM_001114753.3(ENG):c.917_918del (p.Leu306fs)
|
|
|
NM_001114753.3(ENG):c.919_920del (p.Asn307fs)
|
|
|
NM_001114753.3(ENG):c.920A>T (p.Asn307Ile)
|
|
|
NM_001114753.3(ENG):c.923C>A (p.Ala308Asp)
|
rs1482440395
|
|
NM_001114753.3(ENG):c.933G>T (p.Val311=)
|
|
|
NM_001114753.3(ENG):c.95T>A (p.Leu32His)
|
|
|
NM_001114753.3(ENG):c.990C>A (p.Cys330Ter)
|
|
|
NM_001114753.3(ENG):c.991+1G>C
|
|
|
NM_001114753.3(ENG):c.991+4A>G
|
rs2131886797
|
|
NM_001114753.3(ENG):c.991G>A (p.Gly331Ser)
|
rs1060501410
|
|
NM_001114753.3(ENG):c.992-3C>G
|
rs1830552318
|
|
NM_001114753.3(ENG):c.992-5C>G
|
|
|