ClinVar Miner

List of variants studied for carbohydrate metabolism disease by Invitae

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10047
Download table as spreadsheet
HGVS dbSNP
NC_000001.10:g.(?_100314640)_(100390579_?)dup
NC_000001.10:g.(?_100316579)_(100387227_?)dup
NC_000001.10:g.(?_100340233)_(100343394_?)del
NC_000001.10:g.(?_100366308)_(100367832_?)del
NC_000001.10:g.(?_100366308_100367832del
NC_000001.10:g.(?_100381624_100382277del
NC_000001.11:g.(?_23859778)_(23859923_?)del
NC_000001.11:g.(?_99862247)_(99862433_?)del
NC_000001.11:g.(?_99892422)_(99892617_?)del
NC_000001.11:g.(?_99902663)_(99902814_?)del
NC_000001.11:g.(?_99910692)_(99910867_?)del
NC_000001.11:g.(?_99910692)_(99913758_?)del
NC_000001.11:g.(?_99921514)_(99921671_?)del
NC_000001.11:g.(?_99921524)_(99921661_?)del
NC_000003.11:g.(?_15683405)_(15687154_?)del
NC_000003.11:g.(?_25760931)_(25831376_?)del
NC_000003.11:g.(?_25805537)_(25805822_?)del
NC_000003.11:g.(?_25820055)_(25824881_?)del
NC_000003.11:g.(?_50339478)_(50341042_?)del
NC_000003.11:g.(?_81539548)_(81754774_?)del
NC_000003.11:g.(?_81584336)_(81584486_?)del
NC_000003.11:g.(?_81584336)_(81810678_?)del
NC_000003.11:g.(?_81627056)_(81810688_?)del
NC_000003.11:g.(?_81810516)_(81810678_?)del
NC_000003.11:g.170744815T>C
NC_000003.11:g.170744893G>A
NC_000003.11:g.170744920T>G
NC_000003.12:g.(?_15601831)_(15601914_?)del
NC_000003.12:g.(?_25719440)_(25734002_?)del
NC_000003.12:g.(?_25751078)_(25751283_?)del
NC_000003.12:g.(?_33097001)_(33097095_?)del
NC_000003.12:g.(?_58428014)_(58431813_?)del
NC_000003.12:g.(?_81490387)_(81705633_?)del
NC_000003.12:g.(?_81490387)_(81761537_?)del
NC_000003.12:g.(?_81490397)_(81490473_?)del
NC_000003.12:g.(?_81490397)_(81761527_?)del
NC_000003.12:g.(?_81499090)_(81761537_?)del
NC_000003.12:g.(?_81591027)_(81594033_?)del
NC_000003.12:g.(?_81642771)_(81643000_?)del
NC_000003.12:g.(?_81642771)_(81670963_?)del
NC_000003.12:g.(?_81646382)_(81670963_?)del
NC_000003.12:g.(?_81761375)_(81761517_?)del
NC_000004.11:g.(?_178363393)_(178363667_?)del
NC_000004.11:g.(?_39459814)_(39528725_?)dup
NC_000004.11:g.(?_39460718)_(39478755_?)dup
NC_000004.11:g.(?_39460738)_(39478735_?)dup
NC_000004.11:g.(?_996510)_(998355_?)del
NC_000004.12:g.(?_102650517)_(102726703_?)del
NC_000004.12:g.(?_177431688)_(177442395_?)dup
NC_000005.10:g.(?_78885574)_(78885837_?)del
NC_000005.10:g.(?_78964406)_(78969202_?)del
NC_000005.9:g.(?_77385207)_(78135259_?)del
NC_000005.9:g.(?_78111899)_(78135259_?)del
NC_000005.9:g.(?_78181397)_(78181660_?)dup
NC_000005.9:g.(?_78260219)_(78265035_?)del
NC_000005.9:g.(?_78280740)_(78281091_?)del
NC_000007.13:g.(?_151252200)_(151575316_?)del
NC_000007.13:g.(?_151252200)_(151575316_?)dup
NC_000007.13:g.(?_151254277)_(151254328_?)del
NC_000007.13:g.(?_151262800)_(152373170_?)del
NC_000007.13:g.(?_151372486)_(151483647_?)dup
NC_000007.13:g.(?_151478228)_(151573715_?)dup
NC_000007.13:g.(?_151573582)_(151573715_?)dup
NC_000007.13:g.(?_65425884)_(65447170_?)dup
NC_000007.14:g.(?_107901728)_(107906378_?)del
NC_000007.14:g.(?_65960877)_(65982203_?)dup
NC_000007.14:g.(?_65960877)_(66092932_?)del
NC_000007.14:g.(?_65967711)_(65970386_?)del
NC_000007.14:g.(?_65970262)_(65970386_?)del
NC_000007.14:g.(?_65974275)_(65982203_?)del
NC_000008.10:g.(?_42958672)_(43054732_?)dup
NC_000008.10:g.(?_43013698)_(43054712_?)dup
NC_000008.10:g.(?_43028846)_(43028896_?)dup
NC_000008.10:g.(?_43052081)_(43053105_?)del
NC_000008.11:g.(?_43083118)_(43304769_?)dup
NC_000008.11:g.(?_43139449)_(43203827_?)dup
NC_000008.11:g.(?_43140487)_(43199579_?)dup
NC_000008.11:g.(?_43140497)_(43161507_?)del
NC_000008.11:g.(?_43169153)_(43178254_?)del
NC_000008.11:g.(?_43196928)_(43197972_?)del
NC_000009.11:g.(?_104169266_104189861del
NC_000009.11:g.(?_104187883_104189197del
NC_000009.11:g.(?_104187884_104189197del
NC_000009.11:g.(?_104188817)_(104193189_?)del
NC_000009.11:g.(?_104188827)_(104193169_?)del
NC_000009.11:g.(?_34645662_34651235del
NC_000009.11:g.(?_34649002_34650433del
NC_000009.12:g.(?_101424833)_(101437751_?)del
NC_000009.12:g.(?_101426493)_(101437751_?)del
NC_000009.12:g.(?_34645559)_(34648914_?)del
NC_000009.12:g.(?_34645559)_(34649574_?)del
NC_000009.12:g.(?_34645559)_(34651238_?)del
NC_000009.12:g.(?_34646586)_(34651238_?)del
NC_000009.12:g.(?_34646609)_(34650459_?)del
NC_000009.12:g.(?_94639121)_(94639330_?)del
NC_000011.10:g.(?_119024900)_(119029379_?)del
NC_000011.10:g.(?_119028174)_(119029389_?)del
NC_000011.10:g.(?_64746639)_(64747378_?)del
NC_000011.10:g.(?_64750356)_(64750603_?)del
NC_000011.10:g.(?_64750366)_(64750593_?)del
NC_000011.10:g.(?_64758226)_(64758724_?)del
NC_000011.10:g.(?_64758236)_(64758714_?)del
NC_000011.9:g.(?_111896177)_(111922093_?)del
NC_000011.9:g.(?_117856768)_(118972385_?)dup
NC_000011.9:g.(?_118895600)_(118972385_?)dup
NC_000011.9:g.(?_118899922)_(118900089_?)del
NC_000011.9:g.(?_64518138_64519390del
NC_000011.9:g.(?_64525241)_(64527380_?)del
NC_000012.11:g.(?_65094311_65130836del
NC_000012.11:g.(?_65133151)_(65146547_?)dup
NC_000012.12:g.(?_64716721)_(64723133_?)del
NC_000012.12:g.(?_64739371)_(64747928_?)del
NC_000012.12:g.(?_64747692)_(64747938_?)del
NC_000014.8:g.(?_51372090)_(51411141_?)del
NC_000014.9:g.(?_50909875)_(50912323_?)del
NC_000016.10:g.(?_47669195)_(47669437_?)del
NC_000016.10:g.(?_87888109)_(87891974_?)del
NC_000016.10:g.(?_87904766)_(87904924_?)del
NC_000016.10:g.(?_87936289)_(87936470_?)del
NC_000016.10:g.(?_88814419)_(88856897_?)del
NC_000016.10:g.(?_88822569)_(88842849_?)del
NC_000016.10:g.(?_88826682)_(88826858_?)del
NC_000016.10:g.(?_88837602)_(88842849_?)del
NC_000016.10:g.(?_88840972)_(88842849_?)del
NC_000016.10:g.(?_88856738)_(88856897_?)del
NC_000016.9:g.(?_29802081)_(30199917_?)dup
NC_000016.9:g.(?_30066083)_(30081533_?)dup
NC_000016.9:g.(?_47545556)_(47581479_?)del
NC_000016.9:g.(?_47682424)_(47684852_?)dup
NC_000016.9:g.(?_87636753)_(88505740_?)del
NC_000016.9:g.(?_87938372)_(87960571_?)del
NC_000016.9:g.(?_88884395)_(88884552_?)del
NC_000016.9:g.(?_88893090)_(88904193_?)del
NC_000017.10:g.(?_40690347)_(40690783_?)del
NC_000017.10:g.(?_41055938)_(41063453_?)del
NC_000017.10:g.(?_41059530)_(41059655_?)del
NC_000017.10:g.(?_73754587_73758319del
NC_000017.10:g.(?_78078341)_(78093140_?)dup
NC_000017.10:g.(?_78078341)_(78093150_?)dup
NC_000017.10:g.(?_78086381_78091497del
NC_000017.10:g.(?_78090757)_(78093140_?)dup
NC_000017.10:g.(?_78090799_78093893del
NC_000017.10:g.(?_78091652_78092189del
NC_000017.10:g.(?_78091972)_(78092176_?)del
NC_000017.10:g.(?_78092582_78096154del
NC_000017.10:g.(?_78194005)_(78194132_?)del
NC_000017.11:g.(?_42900800)_(42904229_?)del
NC_000017.11:g.(?_80104542)_(80105914_?)del
NC_000017.11:g.(?_80107537)_(80113386_?)del
NC_000017.11:g.(?_80108677)_(80113386_?)del
NC_000017.11:g.(?_80109935)_(80113376_?)del
NC_000017.11:g.(?_80118183)_(80118367_?)del
NC_000017.11:g.(?_80118193)_(80118357_?)del
NC_000017.11:g.(?_80213794)_(80215148_?)del
NC_000019.10:g.(?_12656561)_(12661386_?)del
NC_000019.10:g.(?_48977904)_(48993132_?)dup
NC_000019.10:g.(?_48977914)_(48993363_?)dup
NC_000019.10:g.(?_48987184)_(48987395_?)del
NC_000019.9:g.(?_12758358_12759516del
NC_000019.9:g.(?_12760717)_(12761046_?)del
NC_000019.9:g.(?_12762957)_(12772200_?)del
NC_000019.9:g.(?_49481161)_(49496369_?)dup
NC_000019.9:g.(?_49485502)_(49486104_?)del
NC_000020.10:g.(?_389363)_(411094_?)dup
NC_000020.11:g.(?_408719)_(765794_?)dup
NC_000021.8:g.(?_37133458)_(38311203_?)dup
NC_000021.8:g.(?_38269140)_(38269451_?)del
NC_000021.8:g.(?_38269140)_(38311203_?)del
NC_000021.8:g.(?_38302541)_(38311304_?)del
NC_000021.9:g.(?_36765002)_(36767295_?)del
NC_000021.9:g.(?_36930231)_(36930453_?)dup
NC_000021.9:g.(?_36938822)_(36939004_?)del
NC_000023.10:g.(?_118986730)_(119603030_?)dup
NC_000023.10:g.(?_119565168)_(119603034_?)del
NC_000023.10:g.(?_148564257)_(148586687_?)del
NC_000023.10:g.(?_148564257)_(148586687_?)dup
NC_000023.10:g.(?_148564267)_(148586894_?)del
NC_000023.10:g.(?_148571835)_(148582578_?)del
NC_000023.10:g.(?_148577857)_(148579858_?)del
NC_000023.10:g.(?_148578704)_(148586687_?)del
NC_000023.10:g.(?_148579618)_(148586687_?)del
NC_000023.10:g.(?_148579628)_(148579848_?)dup
NC_000023.10:g.(?_18660114)_(19377781_?)del
NC_000023.11:g.(?_120428464)_(120469189_?)del
NC_000023.11:g.(?_120431313)_(120469179_?)dup
NC_000023.11:g.(?_120431313)_(120470223_?)del
NC_000023.11:g.(?_120441710)_(120449148_?)del
NC_000023.11:g.(?_18920012)_(18920221_?)del
NC_000023.11:g.(?_18929208)_(18983952_?)del
NC_000023.11:g.(?_72644342)_(72676170_?)del
NC_000023.11:g.18895137dup
NM_000027.4(AGA):c.101_107del (p.Trp34fs) rs759063638
NM_000027.4(AGA):c.1023A>G (p.Glu341=) rs113407270
NM_000027.4(AGA):c.1030G>C (p.Asp344His) rs776865078
NM_000027.4(AGA):c.105C>G (p.Pro35=) rs199757656
NM_000027.4(AGA):c.10A>C (p.Lys4Gln) rs149092606
NM_000027.4(AGA):c.127+5G>A
NM_000027.4(AGA):c.127+8T>C
NM_000027.4(AGA):c.128-2A>G
NM_000027.4(AGA):c.129G>A (p.Ala43=)
NM_000027.4(AGA):c.150A>T (p.Gly50=)
NM_000027.4(AGA):c.153C>A (p.Gly51=)
NM_000027.4(AGA):c.153C>T (p.Gly51=)
NM_000027.4(AGA):c.160C>T (p.Leu54=)
NM_000027.4(AGA):c.171G>A (p.Val57=)
NM_000027.4(AGA):c.177C>T (p.Ser59=)
NM_000027.4(AGA):c.18C>T (p.Asn6=) rs1579047707
NM_000027.4(AGA):c.19T>C (p.Leu7=)
NM_000027.4(AGA):c.200_201del (p.Glu67fs) rs386833420
NM_000027.4(AGA):c.204G>A (p.Gln68=)
NM_000027.4(AGA):c.210C>T (p.Asp70=) rs762870187
NM_000027.4(AGA):c.210del (p.Asp70fs)
NM_000027.4(AGA):c.214T>C (p.Ser72Pro) rs121964909
NM_000027.4(AGA):c.219A>G (p.Val73=)
NM_000027.4(AGA):c.24T>C (p.Pro8=) rs34413111
NM_000027.4(AGA):c.27G>T (p.Val9=) rs764924616
NM_000027.4(AGA):c.281+13T>G rs34241758
NM_000027.4(AGA):c.281+8C>T
NM_000027.4(AGA):c.282-9T>G
NM_000027.4(AGA):c.303A>T (p.Ala101=) rs142449515
NM_000027.4(AGA):c.308G>A (p.Gly103Glu)
NM_000027.4(AGA):c.313C>A (p.Leu105Ile) rs76491548
NM_000027.4(AGA):c.319C>T (p.Arg107Ter) rs765070743
NM_000027.4(AGA):c.33C>T (p.Leu11=) rs763702713
NM_000027.4(AGA):c.346C>T (p.Arg116Trp) rs386833423
NM_000027.4(AGA):c.348G>A (p.Arg116=)
NM_000027.4(AGA):c.34G>C (p.Val12Leu)
NM_000027.4(AGA):c.34G>T (p.Val12Leu) rs74626221
NM_000027.4(AGA):c.367_371del (p.Thr123fs)
NM_000027.4(AGA):c.375_376del (p.Leu126fs)
NM_000027.4(AGA):c.376C>G (p.Leu126Val) rs200420067
NM_000027.4(AGA):c.390G>C (p.Glu130Asp)
NM_000027.4(AGA):c.394+10T>G
NM_000027.4(AGA):c.394+19_394+20del rs575232762
NM_000027.4(AGA):c.394+7_394+10del
NM_000027.4(AGA):c.395-4C>T
NM_000027.4(AGA):c.395-7T>C
NM_000027.4(AGA):c.402A>G (p.Thr134=)
NM_000027.4(AGA):c.420G>T (p.Gly140=) rs1579044062
NM_000027.4(AGA):c.432A>G (p.Glu144=)
NM_000027.4(AGA):c.435C>T (p.Asp145=)
NM_000027.4(AGA):c.436T>G (p.Leu146Val) rs146381591
NM_000027.4(AGA):c.446C>G (p.Thr149Ser) rs2228119
NM_000027.4(AGA):c.454C>T (p.Gln152Ter)
NM_000027.4(AGA):c.473G>A (p.Trp158Ter) rs745976989
NM_000027.4(AGA):c.482G>A (p.Arg161Gln) rs192195150
NM_000027.4(AGA):c.488G>C (p.Cys163Ser) rs121964904
NM_000027.4(AGA):c.48C>A (p.Leu16=)
NM_000027.4(AGA):c.48C>T (p.Leu16=)
NM_000027.4(AGA):c.507+10C>T
NM_000027.4(AGA):c.507+8C>T
NM_000027.4(AGA):c.508-2A>G rs986682657
NM_000027.4(AGA):c.523C>T (p.Pro175Ser)
NM_000027.4(AGA):c.537C>T (p.Cys179=)
NM_000027.4(AGA):c.538G>A (p.Gly180Arg) rs373865451
NM_000027.4(AGA):c.549A>G (p.Lys183=)
NM_000027.4(AGA):c.555_558del (p.Gly186fs)
NM_000027.4(AGA):c.585T>C (p.His195=)
NM_000027.4(AGA):c.595G>T (p.Glu199Ter)
NM_000027.4(AGA):c.600T>C (p.Asp200=)
NM_000027.4(AGA):c.60A>G (p.Leu20=) rs114918706
NM_000027.4(AGA):c.622+13T>C rs75260482
NM_000027.4(AGA):c.623-10del rs745896951
NM_000027.4(AGA):c.623-21dup
NM_000027.4(AGA):c.623-6T>C
NM_000027.4(AGA):c.623-7C>T rs201125635
NM_000027.4(AGA):c.63G>A (p.Val21=)
NM_000027.4(AGA):c.645A>G (p.Thr215=) rs201441868
NM_000027.4(AGA):c.657T>C (p.Ala219=) rs886059261
NM_000027.4(AGA):c.675T>C (p.Asn225=) rs138699617
NM_000027.4(AGA):c.677G>A (p.Gly226Asp) rs386833431
NM_000027.4(AGA):c.693A>G (p.Ile231Met) rs1579042146
NM_000027.4(AGA):c.698+1G>A rs1057517175
NM_000027.4(AGA):c.698+1del
NM_000027.4(AGA):c.705A>G (p.Val235=)
NM_000027.4(AGA):c.738T>C (p.Tyr246=)
NM_000027.4(AGA):c.741T>C (p.Ala247=)
NM_000027.4(AGA):c.744C>T (p.Asp248=) rs148052291
NM_000027.4(AGA):c.750T>C (p.Thr250=)
NM_000027.4(AGA):c.757G>A (p.Ala253Thr)
NM_000027.4(AGA):c.75C>T (p.Ser25=)
NM_000027.4(AGA):c.762C>T (p.Ala254=) rs145465919
NM_000027.4(AGA):c.780T>C (p.Gly260=)
NM_000027.4(AGA):c.793C>T (p.Arg265Cys) rs146710132
NM_000027.4(AGA):c.800dup (p.Pro268fs) rs386833436
NM_000027.4(AGA):c.824A>G (p.Tyr275Cys)
NM_000027.4(AGA):c.852A>T (p.Ile284=)
NM_000027.4(AGA):c.854C>T (p.Ala285Val)
NM_000027.4(AGA):c.859C>T (p.Gln287Ter)
NM_000027.4(AGA):c.885G>A (p.Lys295=) rs34019119
NM_000027.4(AGA):c.894A>G (p.Pro298=)
NM_000027.4(AGA):c.902T>C (p.Phe301Ser) rs35916166
NM_000027.4(AGA):c.906G>A (p.Gly302=)
NM_000027.4(AGA):c.90C>T (p.Val30=) rs371130120
NM_000027.4(AGA):c.93C>T (p.Val31=) rs922841572
NM_000027.4(AGA):c.940+8G>A
NM_000027.4(AGA):c.941-5C>T rs377622082
NM_000027.4(AGA):c.941-7G>T
NM_000027.4(AGA):c.941-8G>T
NM_000027.4(AGA):c.965C>T (p.Thr322Ile) rs56849061
NM_000027.4(AGA):c.978T>C (p.Phe326=)
NM_000027.4(AGA):c.987G>C (p.Met329Ile)
NM_000027.4(AGA):c.999C>G (p.Ser333=)
NM_000027.4(AGA):c.999C>T (p.Ser333=) rs1479579564
NM_000035.4(ALDOB):c.-11+1G>C rs181639417
NM_000035.4(ALDOB):c.-214G>A rs185972191
NM_000035.4(ALDOB):c.1000-1G>T
NM_000035.4(ALDOB):c.1005C>G (p.Asn335Lys) rs78340951
NM_000035.4(ALDOB):c.1007_1008delinsT (p.Cys336fs)
NM_000035.4(ALDOB):c.1011G>A (p.Gln337=) rs566549564
NM_000035.4(ALDOB):c.1013C>T (p.Ala338Val) rs77718928
NM_000035.4(ALDOB):c.1014G>A (p.Ala338=) rs546735701
NM_000035.4(ALDOB):c.1026G>A (p.Gln342=)
NM_000035.4(ALDOB):c.1035C>T (p.His345=) rs761508514
NM_000035.4(ALDOB):c.1044T>C (p.Ser348=)
NM_000035.4(ALDOB):c.1062C>G (p.Thr354=)
NM_000035.4(ALDOB):c.1065G>A (p.Gln355=)
NM_000035.4(ALDOB):c.1068G>A (p.Ser356=)
NM_000035.4(ALDOB):c.10C>T (p.Arg4Ter) rs118204428
NM_000035.4(ALDOB):c.112+7G>A
NM_000035.4(ALDOB):c.113-1G>A
NM_000035.4(ALDOB):c.113-1_115del rs786204598
NM_000035.4(ALDOB):c.156T>G (p.Thr52=) rs149671008
NM_000035.4(ALDOB):c.178C>A (p.Arg60=) rs118204429
NM_000035.4(ALDOB):c.178C>T (p.Arg60Ter) rs118204429
NM_000035.4(ALDOB):c.186C>T (p.Ile62=) rs1588172329
NM_000035.4(ALDOB):c.18A>T (p.Pro6=)
NM_000035.4(ALDOB):c.207C>T (p.Ser69=) rs779129856
NM_000035.4(ALDOB):c.222C>T (p.Ile74=)
NM_000035.4(ALDOB):c.231G>T (p.Val77=)
NM_000035.4(ALDOB):c.243C>T (p.His81=) rs182003715
NM_000035.4(ALDOB):c.249C>T (p.Thr83=)
NM_000035.4(ALDOB):c.252C>G (p.Leu84=)
NM_000035.4(ALDOB):c.264C>A (p.Asp88Glu) rs200585150
NM_000035.4(ALDOB):c.282C>T (p.Phe94=) rs549682194
NM_000035.4(ALDOB):c.285A>G (p.Arg95=)
NM_000035.4(ALDOB):c.294C>G (p.Leu98=)
NM_000035.4(ALDOB):c.2T>C (p.Met1Thr)
NM_000035.4(ALDOB):c.302del (p.Lys101fs) rs974582114
NM_000035.4(ALDOB):c.318A>G (p.Gly106=)
NM_000035.4(ALDOB):c.324+1G>A rs764826805
NM_000035.4(ALDOB):c.324+7A>C
NM_000035.4(ALDOB):c.324+8C>G rs118168553
NM_000035.4(ALDOB):c.324G>A (p.Lys108=) rs750026492
NM_000035.4(ALDOB):c.325-1G>T
NM_000035.4(ALDOB):c.331C>T (p.Gln111Ter)
NM_000035.4(ALDOB):c.336A>C (p.Gly112=) rs1248064943
NM_000035.4(ALDOB):c.360_363del (p.Asn120fs) rs387906225
NM_000035.4(ALDOB):c.369C>A (p.Thr123=)
NM_000035.4(ALDOB):c.379+1G>T
NM_000035.4(ALDOB):c.380-2A>G rs1300461861
NM_000035.4(ALDOB):c.380-4G>T
NM_000035.4(ALDOB):c.396A>G (p.Ser132=)
NM_000035.4(ALDOB):c.400C>A (p.Arg134Ser) rs10123355
NM_000035.4(ALDOB):c.423T>C (p.Asp141=)
NM_000035.4(ALDOB):c.43del (p.Glu15fs)
NM_000035.4(ALDOB):c.448G>C (p.Ala150Pro) rs1800546
NM_000035.4(ALDOB):c.462T>C (p.Ile154=)
NM_000035.4(ALDOB):c.465C>A (p.Ala155=)
NM_000035.4(ALDOB):c.465C>T (p.Ala155=) rs569981883
NM_000035.4(ALDOB):c.468C>T (p.Asp156=)
NM_000035.4(ALDOB):c.480C>T (p.Ser160=)
NM_000035.4(ALDOB):c.486C>G (p.Leu162=)
NM_000035.4(ALDOB):c.486C>T (p.Leu162=) rs773334784
NM_000035.4(ALDOB):c.488C>T (p.Ala163Val) rs202210810
NM_000035.4(ALDOB):c.489T>A (p.Ala163=) rs578048957
NM_000035.4(ALDOB):c.501C>T (p.Asn167=) rs186836225
NM_000035.4(ALDOB):c.507C>T (p.Asn169=) rs746351347
NM_000035.4(ALDOB):c.511C>T (p.Leu171=)
NM_000035.4(ALDOB):c.522C>T (p.Tyr174=) rs752902486
NM_000035.4(ALDOB):c.524C>A (p.Ala175Asp) rs76917243
NM_000035.4(ALDOB):c.525C>T (p.Ala175=) rs144196914
NM_000035.4(ALDOB):c.537G>A (p.Gln179=) rs775053176
NM_000035.4(ALDOB):c.538C>A (p.Gln180Lys) rs574635615
NM_000035.4(ALDOB):c.540+9C>A
NM_000035.4(ALDOB):c.541-277_651del
NM_000035.4(ALDOB):c.543T>G (p.Asn181Lys) rs35885472
NM_000035.4(ALDOB):c.549G>T (p.Leu183=)
NM_000035.4(ALDOB):c.582T>C (p.Asp194=) rs141988626
NM_000035.4(ALDOB):c.607C>T (p.Gln203Ter)
NM_000035.4(ALDOB):c.612T>A (p.Tyr204Ter) rs370793608
NM_000035.4(ALDOB):c.619G>C (p.Glu207Gln) rs3739721
NM_000035.4(ALDOB):c.621G>A (p.Glu207=)
NM_000035.4(ALDOB):c.625-10T>C
NM_000035.4(ALDOB):c.654T>C (p.Asn218=) rs780943027
NM_000035.4(ALDOB):c.673del (p.Glu225fs)
NM_000035.4(ALDOB):c.681C>T (p.Thr227=) rs61757689
NM_000035.4(ALDOB):c.690G>A (p.Lys230=)
NM_000035.4(ALDOB):c.708T>C (p.Ala236=)
NM_000035.4(ALDOB):c.717C>T (p.Ala239=) rs772197524
NM_000035.4(ALDOB):c.738A>G (p.Pro246=)
NM_000035.4(ALDOB):c.750T>A (p.Ala250=)
NM_000035.4(ALDOB):c.759C>A (p.Thr253=) rs146360505
NM_000035.4(ALDOB):c.759C>T (p.Thr253=) rs146360505
NM_000035.4(ALDOB):c.799+6G>A rs141888548
NM_000035.4(ALDOB):c.800-5A>G
NM_000035.4(ALDOB):c.800-6T>C
NM_000035.4(ALDOB):c.813G>A (p.Leu271=)
NM_000035.4(ALDOB):c.819T>C (p.Gly273=)
NM_000035.4(ALDOB):c.849C>T (p.Asn283=) rs202062631
NM_000035.4(ALDOB):c.865del (p.Leu289fs) rs864309533
NM_000035.4(ALDOB):c.873T>A (p.Pro291=) rs765247994
NM_000035.4(ALDOB):c.906T>C (p.Tyr302=) rs138866018
NM_000035.4(ALDOB):c.912G>C (p.Arg304=)
NM_000035.4(ALDOB):c.915C>G (p.Ala305=)
NM_000035.4(ALDOB):c.933G>A (p.Leu311=)
NM_000035.4(ALDOB):c.949_950insCAGGGCCCGTGCACTGGCTGCCTGGGGTGGCA (p.Lys317fs)
NM_000035.4(ALDOB):c.954T>C (p.Ala318=) rs572044496
NM_000035.4(ALDOB):c.966G>A (p.Glu322=) rs149166711
NM_000035.4(ALDOB):c.996C>T (p.Ala332=)
NM_000035.4(ALDOB):c.99A>C (p.Ala33=)
NM_000046.5(ARSB):c.1011G>A (p.Leu337=)
NM_000046.5(ARSB):c.1026G>A (p.Val342=)
NM_000046.5(ARSB):c.1034G>A (p.Arg345Gln)
NM_000046.5(ARSB):c.1036G>T (p.Glu346Ter)
NM_000046.5(ARSB):c.103_118del (p.Pro35fs)
NM_000046.5(ARSB):c.1048A>G (p.Ile350Val) rs79970603
NM_000046.5(ARSB):c.105G>A (p.Pro35=)
NM_000046.5(ARSB):c.1065A>G (p.Pro355=) rs1580000175
NM_000046.5(ARSB):c.1068A>T (p.Thr356=) rs16876029
NM_000046.5(ARSB):c.1071C>T (p.Leu357=)
NM_000046.5(ARSB):c.1072G>A (p.Val358Met) rs1065757
NM_000046.5(ARSB):c.1078C>T (p.Leu360=) rs140923667
NM_000046.5(ARSB):c.1086G>A (p.Arg362=) rs144879531
NM_000046.5(ARSB):c.1090C>T (p.His364Tyr)
NM_000046.5(ARSB):c.1122C>T (p.Phe374=)
NM_000046.5(ARSB):c.1123G>A (p.Asp375Asn) rs200040980
NM_000046.5(ARSB):c.1125C>T (p.Asp375=)
NM_000046.5(ARSB):c.1126G>A (p.Val376Met) rs1071598
NM_000046.5(ARSB):c.1130G>A (p.Trp377Ter) rs1554079265
NM_000046.5(ARSB):c.113_121del (p.Gly38_Gly40del) rs550086186
NM_000046.5(ARSB):c.113del (p.Gly38fs)
NM_000046.5(ARSB):c.1140_1142+2del
NM_000046.5(ARSB):c.1142+7A>T
NM_000046.5(ARSB):c.1142+9A>C
NM_000046.5(ARSB):c.1143-1G>C rs431905495
NM_000046.5(ARSB):c.1143-4C>A
NM_000046.5(ARSB):c.1143-5T>C rs777189032
NM_000046.5(ARSB):c.1151G>A (p.Ser384Asn) rs25414
NM_000046.5(ARSB):c.1152C>T (p.Ser384=)
NM_000046.5(ARSB):c.1155A>G (p.Pro385=)
NM_000046.5(ARSB):c.1174C>T (p.Leu392=)
NM_000046.5(ARSB):c.1178A>C (p.His393Pro) rs118203944
NM_000046.5(ARSB):c.1191G>A (p.Pro397=) rs25413
NM_000046.5(ARSB):c.1197C>G (p.Phe399Leu) rs200793396
NM_000046.5(ARSB):c.1197C>T (p.Phe399=) rs200793396
NM_000046.5(ARSB):c.1203C>T (p.Asp401=)
NM_000046.5(ARSB):c.1213+6T>C rs1554074118
NM_000046.5(ARSB):c.1214-2A>T
NM_000046.5(ARSB):c.1214-5C>G rs1580962835
NM_000046.5(ARSB):c.1214G>A (p.Cys405Tyr) rs118203941
NM_000046.5(ARSB):c.121dup (p.Ala41fs)
NM_000046.5(ARSB):c.1224C>T (p.Asn408=)
NM_000046.5(ARSB):c.1254T>C (p.Ser418=)
NM_000046.5(ARSB):c.1258C>G (p.Pro420Ala) rs769542268
NM_000046.5(ARSB):c.1272C>A (p.Ala424=)
NM_000046.5(ARSB):c.1289A>G (p.His430Arg) rs1171277553
NM_000046.5(ARSB):c.1292C>A (p.Ala431Asp)
NM_000046.5(ARSB):c.1299dup (p.Arg434Ter)
NM_000046.5(ARSB):c.1308A>C (p.Gly436=)
NM_000046.5(ARSB):c.1325C>T (p.Thr442Met) rs1057520739
NM_000046.5(ARSB):c.1326G>A (p.Thr442=)
NM_000046.5(ARSB):c.132G>T (p.Pro44=)
NM_000046.5(ARSB):c.1334C>T (p.Pro445Leu) rs1554069775
NM_000046.5(ARSB):c.1336+7del rs748129076
NM_000046.5(ARSB):c.1337-3T>A rs183651028
NM_000046.5(ARSB):c.1337-6T>C
NM_000046.5(ARSB):c.1340G>T (p.Cys447Phe) rs1465993279
NM_000046.5(ARSB):c.1347C>T (p.Tyr449=)
NM_000046.5(ARSB):c.1350G>C (p.Trp450Cys) rs555785323
NM_000046.5(ARSB):c.1362G>A (p.Pro454=) rs35757003
NM_000046.5(ARSB):c.1373A>G (p.Asn458Ser) rs144222167
NM_000046.5(ARSB):c.1389C>T (p.Pro463=)
NM_000046.5(ARSB):c.1395A>G (p.Ser465=)
NM_000046.5(ARSB):c.1397A>G (p.Asp466Gly)
NM_000046.5(ARSB):c.1404A>C (p.Pro468=) rs1580961280
NM_000046.5(ARSB):c.1419G>A (p.Trp473Ter)
NM_000046.5(ARSB):c.1425T>C (p.Phe475=)
NM_000046.5(ARSB):c.1434T>C (p.Asp478=)
NM_000046.5(ARSB):c.1435C>T (p.Arg479Trp)
NM_000046.5(ARSB):c.1438dup (p.Asp480fs) rs1167459660
NM_000046.5(ARSB):c.1440C>T (p.Asp480=)
NM_000046.5(ARSB):c.1446A>G (p.Glu482=) rs35714924
NM_000046.5(ARSB):c.1449A>T (p.Glu483Asp) rs1064793027
NM_000046.5(ARSB):c.1466G>A (p.Arg489Lys)
NM_000046.5(ARSB):c.1482C>T (p.Ile494=)
NM_000046.5(ARSB):c.1483G>A (p.Val495Ile)
NM_000046.5(ARSB):c.1488A>G (p.Thr496=)
NM_000046.5(ARSB):c.1500C>T (p.Ser500=) rs762978908
NM_000046.5(ARSB):c.1502G>A (p.Arg501His) rs190643827
NM_000046.5(ARSB):c.150G>A (p.Leu50=)
NM_000046.5(ARSB):c.1533C>T (p.Pro511=) rs528157833
NM_000046.5(ARSB):c.1548A>C (p.Ala516=)
NM_000046.5(ARSB):c.1558del (p.Arg520fs)
NM_000046.5(ARSB):c.1560C>T (p.Arg520=)
NM_000046.5(ARSB):c.1575C>A (p.Ala525=)
NM_000046.5(ARSB):c.1577del (p.Thr526fs) rs1554069660
NM_000046.5(ARSB):c.1578T>C (p.Thr526=)
NM_000046.5(ARSB):c.1584G>A (p.Val528=)
NM_000046.5(ARSB):c.15C>G (p.Gly5=)
NM_000046.5(ARSB):c.1601A>C (p.Ter534Ser)
NM_000046.5(ARSB):c.163C>T (p.Leu55=)
NM_000046.5(ARSB):c.170G>A (p.Trp57Ter)
NM_000046.5(ARSB):c.173del (p.Asn58fs)
NM_000046.5(ARSB):c.18G>C (p.Ala6=)
NM_000046.5(ARSB):c.204C>A (p.Arg68=)
NM_000046.5(ARSB):c.215T>G (p.Leu72Arg) rs397514441
NM_000046.5(ARSB):c.222G>A (p.Ala74=)
NM_000046.5(ARSB):c.231C>T (p.Ala77=)
NM_000046.5(ARSB):c.240G>A (p.Val80=)
NM_000046.5(ARSB):c.245T>G (p.Leu82Arg) rs749465732
NM_000046.5(ARSB):c.261G>A (p.Thr87=)
NM_000046.5(ARSB):c.264G>A (p.Gln88=)
NM_000046.5(ARSB):c.282G>A (p.Ser94=)
NM_000046.5(ARSB):c.300T>C (p.Thr100=)
NM_000046.5(ARSB):c.310C>T (p.Gln104Ter)
NM_000046.5(ARSB):c.312+4C>T
NM_000046.5(ARSB):c.312+8G>A
NM_000046.5(ARSB):c.312+8G>C rs774555967
NM_000046.5(ARSB):c.313-12T>C
NM_000046.5(ARSB):c.315C>T (p.Ile105=)
NM_000046.5(ARSB):c.317G>A (p.Arg106His) rs150087888
NM_000046.5(ARSB):c.324T>C (p.Gly108=)
NM_000046.5(ARSB):c.339A>T (p.Ile113=)
NM_000046.5(ARSB):c.351T>C (p.Cys117=)
NM_000046.5(ARSB):c.363T>C (p.Cys121=)
NM_000046.5(ARSB):c.36C>A (p.Gly12=) rs1580170993
NM_000046.5(ARSB):c.384C>G (p.Leu128=)
NM_000046.5(ARSB):c.385C>T (p.Leu129=)
NM_000046.5(ARSB):c.385del (p.Leu129fs)
NM_000046.5(ARSB):c.393G>T (p.Gln131His)
NM_000046.5(ARSB):c.406G>A (p.Ala136Thr) rs146704780
NM_000046.5(ARSB):c.427del (p.Val143fs) rs766914147
NM_000046.5(ARSB):c.429C>T (p.Val143=)
NM_000046.5(ARSB):c.430G>A (p.Gly144Arg) rs746206847
NM_000046.5(ARSB):c.438G>A (p.Trp146Ter) rs757061042
NM_000046.5(ARSB):c.43C>G (p.Pro15Ala)
NM_000046.5(ARSB):c.441C>G (p.His147Gln)
NM_000046.5(ARSB):c.454C>T (p.Arg152Trp) rs991104525
NM_000046.5(ARSB):c.456G>T (p.Arg152=) rs140747158
NM_000046.5(ARSB):c.468del (p.Pro157fs)
NM_000046.5(ARSB):c.474C>T (p.Thr158=)
NM_000046.5(ARSB):c.477C>T (p.Arg159=)
NM_000046.5(ARSB):c.479G>A (p.Arg160Gln) rs1196325597
NM_000046.5(ARSB):c.499+10A>G
NM_000046.5(ARSB):c.499+7G>A
NM_000046.5(ARSB):c.500-10A>G
NM_000046.5(ARSB):c.510G>C (p.Leu170=) rs768312895
NM_000046.5(ARSB):c.531C>G (p.Ser177=)
NM_000046.5(ARSB):c.531C>T (p.Ser177=)
NM_000046.5(ARSB):c.54G>A (p.Leu18=) rs142781021
NM_000046.5(ARSB):c.550A>G (p.Ile184Val) rs371812342
NM_000046.5(ARSB):c.555C>T (p.Asp185=) rs780886808
NM_000046.5(ARSB):c.570A>G (p.Thr190=) rs148138805
NM_000046.5(ARSB):c.571C>T (p.Arg191Ter) rs371886102
NM_000046.5(ARSB):c.574T>C (p.Cys192Arg) rs1554087423
NM_000046.5(ARSB):c.60C>T (p.Leu20=)
NM_000046.5(ARSB):c.629A>G (p.Tyr210Cys) rs118203943
NM_000046.5(ARSB):c.63C>G (p.Pro21=)
NM_000046.5(ARSB):c.647C>T (p.Thr216Ile) rs200364654
NM_000046.5(ARSB):c.654G>A (p.Arg218=)
NM_000046.5(ARSB):c.658A>G (p.Ile220Val)
NM_000046.5(ARSB):c.663C>T (p.Ala221=)
NM_000046.5(ARSB):c.66C>T (p.Val22=) rs895965810
NM_000046.5(ARSB):c.678T>C (p.His226=) rs1580135735
NM_000046.5(ARSB):c.691-6T>C
NM_000046.5(ARSB):c.694C>T (p.Leu232=)
NM_000046.5(ARSB):c.707T>C (p.Leu236Pro) rs118203940
NM_000046.5(ARSB):c.714C>G (p.Leu238=)
NM_000046.5(ARSB):c.723G>A (p.Val241=) rs199858121
NM_000046.5(ARSB):c.723G>T (p.Val241=) rs199858121
NM_000046.5(ARSB):c.729G>A (p.Glu243=) rs144029271
NM_000046.5(ARSB):c.753C>G (p.Tyr251Ter) rs765711776
NM_000046.5(ARSB):c.756G>A (p.Leu252=) rs544156449
NM_000046.5(ARSB):c.76C>T (p.Leu26=) rs1220314595
NM_000046.5(ARSB):c.783G>A (p.Lys261=)
NM_000046.5(ARSB):c.789G>A (p.Arg263=)
NM_000046.5(ARSB):c.790C>A (p.His264Asn) rs558569339
NM_000046.5(ARSB):c.797A>C (p.Tyr266Ser) rs1554086402
NM_000046.5(ARSB):c.823G>T (p.Glu275Ter) rs1580121683
NM_000046.5(ARSB):c.82C>T (p.Leu28=) rs138587718
NM_000046.5(ARSB):c.837T>C (p.Asn279=)
NM_000046.5(ARSB):c.84G>A (p.Leu28=) rs754324013
NM_000046.5(ARSB):c.879G>A (p.Thr293=)
NM_000046.5(ARSB):c.886A>C (p.Ile296Leu)
NM_000046.5(ARSB):c.88C>T (p.Leu30=) rs766870239
NM_000046.5(ARSB):c.903C>T (p.Asn301=) rs147495977
NM_000046.5(ARSB):c.914C>T (p.Thr305Ile)
NM_000046.5(ARSB):c.918G>A (p.Leu306=)
NM_000046.5(ARSB):c.91T>C (p.Leu31=)
NM_000046.5(ARSB):c.91TTG[1] (p.Leu32del) rs535493472
NM_000046.5(ARSB):c.921A>C (p.Ala307=)
NM_000046.5(ARSB):c.937C>G (p.Pro313Ala) rs749989641
NM_000046.5(ARSB):c.942T>C (p.Leu314=)
NM_000046.5(ARSB):c.944G>A (p.Arg315Gln) rs727503809
NM_000046.5(ARSB):c.963G>A (p.Leu321=)
NM_000046.5(ARSB):c.966G>A (p.Trp322Ter) rs1554079318
NM_000046.5(ARSB):c.971G>T (p.Gly324Val) rs398123125
NM_000046.5(ARSB):c.972A>G (p.Gly324=) rs72762973
NM_000046.5(ARSB):c.975C>T (p.Gly325=)
NM_000046.5(ARSB):c.979C>A (p.Arg327=)
NM_000046.5(ARSB):c.98C>T (p.Ala33Val) rs201168448
NM_000046.5(ARSB):c.999A>G (p.Ala333=) rs1580000383
NM_000046.5(ARSB):c.9G>C (p.Pro3=)
NM_000108.5(DLD):c.1005T>C (p.Gly335=) rs763878786
NM_000108.5(DLD):c.100A>G (p.Thr34Ala) rs138002793
NM_000108.5(DLD):c.1011T>C (p.Ile337=) rs761507009
NM_000108.5(DLD):c.1014A>G (p.Pro338=)
NM_000108.5(DLD):c.1032A>G (p.Gln344=)
NM_000108.5(DLD):c.1047-13_1047-5del rs1462836154
NM_000108.5(DLD):c.1047-4G>T
NM_000108.5(DLD):c.1047-7_1047-4del
NM_000108.5(DLD):c.104dup (p.Tyr35Ter) rs753234219
NM_000108.5(DLD):c.105C>T (p.Tyr35=) rs747810875
NM_000108.5(DLD):c.1101G>A (p.Glu367=)
NM_000108.5(DLD):c.1123G>A (p.Glu375Lys) rs121964992
NM_000108.5(DLD):c.112C>T (p.Gln38Ter) rs1057516698
NM_000108.5(DLD):c.118+10T>G
NM_000108.5(DLD):c.1182C>G (p.Tyr394Ter)
NM_000108.5(DLD):c.1182C>T (p.Tyr394=) rs757087726
NM_000108.5(DLD):c.119-4G>A rs376605135
NM_000108.5(DLD):c.119-5C>T
NM_000108.5(DLD):c.119-7A>G
NM_000108.5(DLD):c.1236+13A>G rs2701026
NM_000108.5(DLD):c.1236+9G>A
NM_000108.5(DLD):c.1237-7G>A
NM_000108.5(DLD):c.1254T>A (p.Val418=)
NM_000108.5(DLD):c.1266A>G (p.Pro422=) rs766756785
NM_000108.5(DLD):c.1272T>C (p.Ala424=)
NM_000108.5(DLD):c.1296T>C (p.Asn432=)
NM_000108.5(DLD):c.12G>A (p.Trp4Ter) rs1562908173
NM_000108.5(DLD):c.1320G>A (p.Lys440=)
NM_000108.5(DLD):c.1344_1347del (p.Asp448fs)
NM_000108.5(DLD):c.1351C>T (p.Leu451=) rs1803921
NM_000108.5(DLD):c.1359A>G (p.Ala453=)
NM_000108.5(DLD):c.1374+10G>A
NM_000108.5(DLD):c.1374+9T>A rs1584473925
NM_000108.5(DLD):c.1395T>C (p.Asn465=) rs76313180
NM_000108.5(DLD):c.1396G>T (p.Glu466Ter)
NM_000108.5(DLD):c.1416_1422del (p.Tyr473fs)
NM_000108.5(DLD):c.1422A>C (p.Gly474=) rs34453495
NM_000108.5(DLD):c.1428C>T (p.Ser476=)
NM_000108.5(DLD):c.1436A>T (p.Asp479Val) rs397514649
NM_000108.5(DLD):c.1443T>G (p.Ala481=) rs775957704
NM_000108.5(DLD):c.1452T>C (p.Cys484=) rs760982359
NM_000108.5(DLD):c.1465-7C>G rs886061908
NM_000108.5(DLD):c.1465-9C>T
NM_000108.5(DLD):c.1467C>A (p.Thr489=)
NM_000108.5(DLD):c.1482T>C (p.Phe494=)
NM_000108.5(DLD):c.1492A>C (p.Asn498His)
NM_000108.5(DLD):c.1500T>C (p.Ala500=) rs773097788
NM_000108.5(DLD):c.1503G>A (p.Ala501=) rs766286119
NM_000108.5(DLD):c.168T>C (p.Ala56=)
NM_000108.5(DLD):c.180T>G (p.Ala60=)
NM_000108.5(DLD):c.183C>G (p.Ala61=)
NM_000108.5(DLD):c.183C>T (p.Ala61=)
NM_000108.5(DLD):c.18T>C (p.Arg6=)
NM_000108.5(DLD):c.198+10G>C
NM_000108.5(DLD):c.199-10T>C
NM_000108.5(DLD):c.199-4G>T
NM_000108.5(DLD):c.199-7G>T rs1358100638
NM_000108.5(DLD):c.204C>G (p.Val68=) rs553951105
NM_000108.5(DLD):c.249T>C (p.Val83=) rs2228664
NM_000108.5(DLD):c.24C>T (p.Tyr8=)
NM_000108.5(DLD):c.267+9G>A rs188936529
NM_000108.5(DLD):c.268-7C>T rs1584463325
NM_000108.5(DLD):c.282C>T (p.Asn94=) rs144617361
NM_000108.5(DLD):c.285T>C (p.Ser95=) rs761564212
NM_000108.5(DLD):c.305A>T (p.His102Leu)
NM_000108.5(DLD):c.308_310delinsT (p.Gly103fs)
NM_000108.5(DLD):c.30C>T (p.Ser10=)
NM_000108.5(DLD):c.321A>G (p.Ala107=) rs138398782
NM_000108.5(DLD):c.337+7A>G
NM_000108.5(DLD):c.338-18T>A rs184851386
NM_000108.5(DLD):c.338-1G>T
NM_000108.5(DLD):c.342C>T (p.Ser114=)
NM_000108.5(DLD):c.34G>A (p.Ala12Thr) rs75077312
NM_000108.5(DLD):c.351C>T (p.Arg117=)
NM_000108.5(DLD):c.367A>G (p.Met123Val) rs111352707
NM_000108.5(DLD):c.36C>T (p.Ala12=) rs780127925
NM_000108.5(DLD):c.375G>A (p.Glu125=) rs559057715
NM_000108.5(DLD):c.387T>A (p.Thr129=)
NM_000108.5(DLD):c.40-10C>G
NM_000108.5(DLD):c.417C>G (p.Ala139=)
NM_000108.5(DLD):c.439-4A>G
NM_000108.5(DLD):c.439-6G>C rs369208046
NM_000108.5(DLD):c.439-7T>C rs10263341
NM_000108.5(DLD):c.439-7_439-6inv
NM_000108.5(DLD):c.444T>G (p.Val148=)
NM_000108.5(DLD):c.470C>G (p.Thr157Ser) rs142232609
NM_000108.5(DLD):c.474C>A (p.Gly158=)
NM_000108.5(DLD):c.48T>C (p.His16=)
NM_000108.5(DLD):c.495G>A (p.Thr165=)
NM_000108.5(DLD):c.507C>A (p.Gly169=)
NM_000108.5(DLD):c.507C>T (p.Gly169=) rs144351432
NM_000108.5(DLD):c.519T>G (p.Val173=) rs148559280
NM_000108.5(DLD):c.528A>T (p.Thr176=)
NM_000108.5(DLD):c.540T>C (p.Leu180=)
NM_000108.5(DLD):c.543A>T (p.Ile181=) rs61749952
NM_000108.5(DLD):c.549G>A (p.Thr183=) rs150630885
NM_000108.5(DLD):c.55C>G (p.Arg19Gly) rs144038427
NM_000108.5(DLD):c.57A>T (p.Arg19=) rs754899464
NM_000108.5(DLD):c.583-1G>C
NM_000108.5(DLD):c.583-3C>T rs186031819
NM_000108.5(DLD):c.597A>G (p.Thr199=)
NM_000108.5(DLD):c.597A>T (p.Thr199=) rs768248572
NM_000108.5(DLD):c.609T>C (p.Ser203=)
NM_000108.5(DLD):c.633dup (p.Val212fs) rs1040811473
NM_000108.5(DLD):c.654T>C (p.Val218=) rs1584465590
NM_000108.5(DLD):c.669A>C (p.Val223=)
NM_000108.5(DLD):c.675T>C (p.Gly225=) rs73726765
NM_000108.5(DLD):c.684+7G>A rs75123588
NM_000108.5(DLD):c.684+9T>A
NM_000108.5(DLD):c.685-14T>A rs80111449
NM_000108.5(DLD):c.685-4G>A
NM_000108.5(DLD):c.685-4G>T
NM_000108.5(DLD):c.685-8_685-5del
NM_000108.5(DLD):c.685G>T (p.Gly229Cys) rs121964990
NM_000108.5(DLD):c.699A>G (p.Gln233=)
NM_000108.5(DLD):c.723A>G (p.Ala241=)
NM_000108.5(DLD):c.72A>G (p.Leu24=)
NM_000108.5(DLD):c.735A>G (p.Leu245=)
NM_000108.5(DLD):c.741T>C (p.His247=)
NM_000108.5(DLD):c.763A>C (p.Met255Leu) rs533405046
NM_000108.5(DLD):c.777A>G (p.Lys259=) rs1065762
NM_000108.5(DLD):c.788G>A (p.Arg263His) rs145670503
NM_000108.5(DLD):c.803_804del (p.Gln268fs) rs764611160
NM_000108.5(DLD):c.807G>T (p.Gly269=)
NM_000108.5(DLD):c.814T>C (p.Phe272Leu) rs942843326
NM_000108.5(DLD):c.821dup (p.Leu274fs)
NM_000108.5(DLD):c.826A>T (p.Thr276Ser) rs148873419
NM_000108.5(DLD):c.834T>C (p.Val278=)
NM_000108.5(DLD):c.875+1G>A rs1328820332
NM_000108.5(DLD):c.876-6A>T rs199944006
NM_000108.5(DLD):c.888T>C (p.Ala296=)
NM_000108.5(DLD):c.93T>C (p.Pro31=)
NM_000108.5(DLD):c.946C>T (p.Arg316Ter)
NM_000108.5(DLD):c.94C>T (p.Leu32=)
NM_000108.5(DLD):c.951C>G (p.Pro317=) rs778207997
NM_000108.5(DLD):c.954T>C (p.Phe318=)
NM_000108.5(DLD):c.96G>C (p.Leu32=) rs765623212
NM_000147.4(FUCA1):c.1026T>G (p.Thr342=) rs771696380
NM_000147.4(FUCA1):c.1119A>G (p.Lys373=) rs370453371
NM_000147.4(FUCA1):c.1125G>A (p.Trp375Ter) rs794727774
NM_000147.4(FUCA1):c.1127G>A (p.Arg376Gln) rs145603001
NM_000147.4(FUCA1):c.1138G>T (p.Glu380Ter) rs80358195
NM_000147.4(FUCA1):c.1148C>T (p.Thr383Ile) rs114490852
NM_000147.4(FUCA1):c.1274G>A (p.Gly425Glu) rs150422575
NM_000147.4(FUCA1):c.209C>T (p.Pro70Leu) rs770492031
NM_000147.4(FUCA1):c.29C>G (p.Pro10Arg) rs2070956
NM_000147.4(FUCA1):c.327G>A (p.Gln109=) rs61996281
NM_000147.4(FUCA1):c.402G>C (p.Leu134Phe) rs143691289
NM_000147.4(FUCA1):c.405G>A (p.Thr135=) rs145153173
NM_000147.4(FUCA1):c.433T>C (p.Trp145Arg) rs150062050
NM_000147.4(FUCA1):c.437C>T (p.Pro146Leu) rs2228424
NM_000147.4(FUCA1):c.4C>T (p.Arg2Trp) rs2070955
NM_000147.4(FUCA1):c.525-8T>G rs41268125
NM_000147.4(FUCA1):c.648C>T (p.Tyr216=) rs80358198
NM_000147.4(FUCA1):c.759C>T (p.Ser253=) rs757698879
NM_000147.4(FUCA1):c.778G>A (p.Val260Ile) rs665
NM_000147.4(FUCA1):c.7G>C (p.Ala3Pro) rs61996282
NM_000147.4(FUCA1):c.857A>G (p.Gln286Arg) rs13551
NM_000147.4(FUCA1):c.882G>C (p.Glu294Asp) rs1483687600
NM_000147.4(FUCA1):c.936G>A (p.Leu312=) rs140932886
NM_000147.4(FUCA1):c.943G>A (p.Val315Ile) rs746590345
NM_000147.4(FUCA1):c.969+5G>C rs115939152
NM_000147.5(FUCA1):c.1138G>C (p.Glu380Gln)
NM_000147.5(FUCA1):c.1295G>A (p.Trp432Ter)
NM_000147.5(FUCA1):c.1359C>T (p.Pro453=)
NM_000147.5(FUCA1):c.144G>A (p.Pro48=)
NM_000147.5(FUCA1):c.350C>T (p.Pro117Leu)
NM_000147.5(FUCA1):c.492G>C (p.Leu164Phe)
NM_000147.5(FUCA1):c.532C>T (p.Arg178Cys)
NM_000147.5(FUCA1):c.533G>A (p.Arg178His)
NM_000147.5(FUCA1):c.580C>A (p.Leu194Ile)
NM_000147.5(FUCA1):c.663-11A>G
NM_000147.5(FUCA1):c.86G>T (p.Arg29Leu)
NM_000151.4(G6PC1):c.-77G>A
NM_000151.4(G6PC1):c.1002C>T (p.Pro334=) rs143991162
NM_000151.4(G6PC1):c.1007C>A (p.Ala336Glu)
NM_000151.4(G6PC1):c.1011C>T (p.Ser337=)
NM_000151.4(G6PC1):c.1012G>T (p.Val338Phe) rs367727229
NM_000151.4(G6PC1):c.1018_1027delinsA (p.Val340_Tyr343delinsAsn) rs1555560204
NM_000151.4(G6PC1):c.1022T>A (p.Ile341Asn) rs387906505
NM_000151.4(G6PC1):c.1029C>T (p.Tyr343=)
NM_000151.4(G6PC1):c.1035C>T (p.Leu345=)
NM_000151.4(G6PC1):c.1039C>T (p.Gln347Ter) rs80356487
NM_000151.4(G6PC1):c.1056G>A (p.Pro352=) rs779263877
NM_000151.4(G6PC1):c.1068G>A (p.Ser356=) rs776022311
NM_000151.4(G6PC1):c.108C>T (p.Ile36=)
NM_000151.4(G6PC1):c.113A>T (p.Asp38Val) rs104894565
NM_000151.4(G6PC1):c.132C>T (p.Tyr44=) rs202190197
NM_000151.4(G6PC1):c.136del (p.Leu46fs) rs1057517227
NM_000151.4(G6PC1):c.144C>T (p.Pro48=)
NM_000151.4(G6PC1):c.14T>G (p.Met5Arg) rs1250172816
NM_000151.4(G6PC1):c.160_224dup (p.Lys76_Trp77insArgLysLeuTrpAlaLeuAsnSerPheGlyTer)
NM_000151.4(G6PC1):c.161A>C (p.Gln54Pro) rs1057517008
NM_000151.4(G6PC1):c.189G>A (p.Trp63Ter) rs764920787
NM_000151.4(G6PC1):c.18T>C (p.Asn6=) rs144652516
NM_000151.4(G6PC1):c.193G>C (p.Ala65Pro) rs369472089
NM_000151.4(G6PC1):c.193G>T (p.Ala65Ser)
NM_000151.4(G6PC1):c.219C>A (p.Leu73=)
NM_000151.4(G6PC1):c.219C>T (p.Leu73=)
NM_000151.4(G6PC1):c.220G>A (p.Val74Ile)
NM_000151.4(G6PC1):c.225T>C (p.Phe75=)
NM_000151.4(G6PC1):c.228G>C (p.Lys76Asn)
NM_000151.4(G6PC1):c.229T>C (p.Trp77Arg) rs104894566
NM_000151.4(G6PC1):c.231-1G>A rs1555559279
NM_000151.4(G6PC1):c.231-5C>T
NM_000151.4(G6PC1):c.246G>A (p.Gln82=)
NM_000151.4(G6PC1):c.247C>T (p.Arg83Cys) rs1801175
NM_000151.4(G6PC1):c.248G>A (p.Arg83His) rs1801176
NM_000151.4(G6PC1):c.252A>G (p.Pro84=)
NM_000151.4(G6PC1):c.255C>A (p.Tyr85Ter) rs748363083
NM_000151.4(G6PC1):c.255C>T (p.Tyr85=)
NM_000151.4(G6PC1):c.256T>C (p.Trp86Arg)
NM_000151.4(G6PC1):c.262del (p.Val88fs) rs755612674
NM_000151.4(G6PC1):c.285C>T (p.Ser95=)
NM_000151.4(G6PC1):c.294C>T (p.Ser98=) rs777452219
NM_000151.4(G6PC1):c.310C>T (p.Gln104Ter)
NM_000151.4(G6PC1):c.323C>T (p.Thr108Ile) rs1597988331
NM_000151.4(G6PC1):c.324del (p.Cys109fs)
NM_000151.4(G6PC1):c.326G>A (p.Cys109Tyr) rs886052955
NM_000151.4(G6PC1):c.328G>A (p.Glu110Lys) rs104894567
NM_000151.4(G6PC1):c.340+10C>A rs368450665
NM_000151.4(G6PC1):c.340+7G>T
NM_000151.4(G6PC1):c.341G>C (p.Gly114Ala)
NM_000151.4(G6PC1):c.354C>G (p.Gly118=)
NM_000151.4(G6PC1):c.356A>T (p.His119Leu)
NM_000151.4(G6PC1):c.360C>T (p.Ala120=)
NM_000151.4(G6PC1):c.365G>A (p.Gly122Asp)
NM_000151.4(G6PC1):c.368C>A (p.Thr123Lys)
NM_000151.4(G6PC1):c.370G>A (p.Ala124Thr) rs104894568
NM_000151.4(G6PC1):c.379_380dup (p.Tyr128fs) rs80356488
NM_000151.4(G6PC1):c.384C>G (p.Tyr128Ter)
NM_000151.4(G6PC1):c.384C>T (p.Tyr128=)
NM_000151.4(G6PC1):c.388_389delinsTA (p.Met130Ter)
NM_000151.4(G6PC1):c.405T>C (p.Leu135=)
NM_000151.4(G6PC1):c.42G>A (p.Gln14=)
NM_000151.4(G6PC1):c.432G>A (p.Pro144=) rs161628
NM_000151.4(G6PC1):c.435C>G (p.Thr145=)
NM_000151.4(G6PC1):c.446+1G>C rs1597989983
NM_000151.4(G6PC1):c.446+2T>C rs1597989985
NM_000151.4(G6PC1):c.446+7A>C
NM_000151.4(G6PC1):c.447-6T>C rs1597990833
NM_000151.4(G6PC1):c.453G>A (p.Leu151=)
NM_000151.4(G6PC1):c.456T>C (p.Asn152=)
NM_000151.4(G6PC1):c.45A>G (p.Ser15=)
NM_000151.4(G6PC1):c.467G>T (p.Trp156Leu) rs1189630738
NM_000151.4(G6PC1):c.508C>T (p.Arg170Ter) rs373345919
NM_000151.4(G6PC1):c.509G>A (p.Arg170Gln)
NM_000151.4(G6PC1):c.516C>A (p.Tyr172Ter) rs1555559991
NM_000151.4(G6PC1):c.518T>C (p.Leu173Pro) rs775826449
NM_000151.4(G6PC1):c.549T>C (p.Ala183=)
NM_000151.4(G6PC1):c.558G>T (p.Leu186=) rs141376085
NM_000151.4(G6PC1):c.562+10G>A rs199505156
NM_000151.4(G6PC1):c.562+7G>A
NM_000151.4(G6PC1):c.562G>A (p.Gly188Ser) rs80356482
NM_000151.4(G6PC1):c.562G>C (p.Gly188Arg) rs80356482
NM_000151.4(G6PC1):c.563-5C>T rs1246163955
NM_000151.4(G6PC1):c.563-6A>G
NM_000151.4(G6PC1):c.570T>C (p.Ala190=) rs753671536
NM_000151.4(G6PC1):c.582T>C (p.Thr194=)
NM_000151.4(G6PC1):c.610G>T (p.Ala204Ser)
NM_000151.4(G6PC1):c.615C>T (p.Ser205=) rs374522795
NM_000151.4(G6PC1):c.626A>G (p.Tyr209Cys)
NM_000151.4(G6PC1):c.634A>T (p.Ile212Phe) rs756944737
NM_000151.4(G6PC1):c.642C>T (p.Phe214=)
NM_000151.4(G6PC1):c.646C>T (p.Leu216=) rs749665480
NM_000151.4(G6PC1):c.648G>T (p.Leu216=) rs80356484
NM_000151.4(G6PC1):c.657C>T (p.Phe219=)
NM_000151.4(G6PC1):c.663C>T (p.Ile221=)
NM_000151.4(G6PC1):c.664G>A (p.Gly222Arg)
NM_000151.4(G6PC1):c.66T>C (p.Asn22=)
NM_000151.4(G6PC1):c.694G>A (p.Val232Ile) rs145172999
NM_000151.4(G6PC1):c.699C>T (p.Asp233=)
NM_000151.4(G6PC1):c.702C>G (p.Leu234=)
NM_000151.4(G6PC1):c.705G>A (p.Leu235=)
NM_000151.4(G6PC1):c.706T>A (p.Trp236Arg)
NM_000151.4(G6PC1):c.708G>A (p.Trp236Ter)
NM_000151.4(G6PC1):c.723C>T (p.Ala241=) rs762967975
NM_000151.4(G6PC1):c.726G>A (p.Gln242=)
NM_000151.4(G6PC1):c.753C>A (p.Val251=) rs1422424986
NM_000151.4(G6PC1):c.753C>T (p.Val251=)
NM_000151.4(G6PC1):c.765C>T (p.Thr255=) rs1555560144
NM_000151.4(G6PC1):c.780C>T (p.Ser260=)
NM_000151.4(G6PC1):c.786C>T (p.Leu262=) rs138509513
NM_000151.4(G6PC1):c.792C>G (p.Asn264Lys)
NM_000151.4(G6PC1):c.79del (p.Gln27fs) rs80356479
NM_000151.4(G6PC1):c.800C>T (p.Thr267Met)
NM_000151.4(G6PC1):c.801G>A (p.Thr267=)
NM_000151.4(G6PC1):c.804C>T (p.Leu268=)
NM_000151.4(G6PC1):c.809G>T (p.Gly270Val) rs80356483
NM_000151.4(G6PC1):c.821C>T (p.Ala274Val)
NM_000151.4(G6PC1):c.822T>C (p.Ala274=)
NM_000151.4(G6PC1):c.870G>A (p.Lys290=)
NM_000151.4(G6PC1):c.879A>G (p.Pro293=) rs529957748
NM_000151.4(G6PC1):c.883C>T (p.Arg295Cys) rs104894563
NM_000151.4(G6PC1):c.909C>T (p.Leu303=) rs368282218
NM_000151.4(G6PC1):c.910G>A (p.Val304Ile) rs768385469
NM_000151.4(G6PC1):c.930C>T (p.Asp310=)
NM_000151.4(G6PC1):c.942C>G (p.Pro314=) rs141352548
NM_000151.4(G6PC1):c.943C>G (p.Pro315Ala) rs143321486
NM_000151.4(G6PC1):c.948C>A (p.Ser316=) rs137978566
NM_000151.4(G6PC1):c.954C>T (p.Val318=) rs372612424
NM_000151.4(G6PC1):c.960G>T (p.Leu320=) rs531727073
NM_000151.4(G6PC1):c.964T>G (p.Phe322Val) rs1567706564
NM_000151.4(G6PC1):c.969C>A (p.Tyr323Ter) rs780226142
NM_000151.4(G6PC1):c.969C>T (p.Tyr323=)
NM_000151.4(G6PC1):c.992C>T (p.Ala331Val) rs149486847
NM_000151.4(G6PC1):c.993G>A (p.Ala331=) rs369238258
NM_000151.4(G6PC1):c.993G>C (p.Ala331=) rs369238258
NM_000151.4(G6PC1):c.999G>A (p.Val333=)
NM_000152.3(GAA):c.2065G>A (p.Glu689Lys) rs1800309
NM_000152.5(GAA):c.-32-13T>C
NM_000152.5(GAA):c.-32-13T>G rs386834236
NM_000152.5(GAA):c.-32-3C>A rs1055945806
NM_000152.5(GAA):c.1000G>A (p.Gly334Ser)
NM_000152.5(GAA):c.1005G>A (p.Gly335=) rs1598576696
NM_000152.5(GAA):c.1012G>T (p.Asp338Tyr)
NM_000152.5(GAA):c.1019A>G (p.Tyr340Cys) rs144857480
NM_000152.5(GAA):c.1035A>C (p.Pro345=) rs942325926
NM_000152.5(GAA):c.1039C>T (p.Pro347Ser)
NM_000152.5(GAA):c.1041C>T (p.Pro347=) rs1489442441
NM_000152.5(GAA):c.1044G>A (p.Lys348=)
NM_000152.5(GAA):c.1047C>T (p.Ser349=) rs138262940
NM_000152.5(GAA):c.1048G>A (p.Val350Met) rs200412003
NM_000152.5(GAA):c.1051del (p.Val351fs) rs786204507
NM_000152.5(GAA):c.1053G>A (p.Val351=) rs773063199
NM_000152.5(GAA):c.1053G>T (p.Val351=) rs773063199
NM_000152.5(GAA):c.1056G>A (p.Gln352=)
NM_000152.5(GAA):c.1059G>A (p.Gln353=) rs376146090
NM_000152.5(GAA):c.1064T>C (p.Leu355Pro) rs766074609
NM_000152.5(GAA):c.1065G>A (p.Leu355=)
NM_000152.5(GAA):c.1068C>T (p.Asp356=) rs751215137
NM_000152.5(GAA):c.1069G>T (p.Val357Phe)
NM_000152.5(GAA):c.1071T>C (p.Val357=) rs1598576937
NM_000152.5(GAA):c.1075+13C>T rs41292402
NM_000152.5(GAA):c.1075+4G>A rs754290055
NM_000152.5(GAA):c.1075+9T>C rs751918816
NM_000152.5(GAA):c.1075G>T (p.Gly359Ter) rs1064794288
NM_000152.5(GAA):c.1076-22T>G rs762260678
NM_000152.5(GAA):c.1076-4G>T
NM_000152.5(GAA):c.1080C>T (p.Tyr360=)
NM_000152.5(GAA):c.1082C>T (p.Pro361Leu) rs755253527
NM_000152.5(GAA):c.1083G>A (p.Pro361=) rs781379047
NM_000152.5(GAA):c.1086C>T (p.Phe362=)
NM_000152.5(GAA):c.108G>A (p.Leu36=)
NM_000152.5(GAA):c.1092G>A (p.Pro364=) rs777730774
NM_000152.5(GAA):c.1095A>G (p.Pro365=)
NM_000152.5(GAA):c.1099T>C (p.Trp367Arg) rs1555600061
NM_000152.5(GAA):c.109C>G (p.Leu37Val) rs369775994
NM_000152.5(GAA):c.1103G>A (p.Gly368Asp)
NM_000152.5(GAA):c.1103G>T (p.Gly368Val) rs368244038
NM_000152.5(GAA):c.1105C>T (p.Leu369=)
NM_000152.5(GAA):c.1106T>C (p.Leu369Pro)
NM_000152.5(GAA):c.1110C>T (p.Gly370=)
NM_000152.5(GAA):c.1114C>T (p.His372Tyr) rs1555600070
NM_000152.5(GAA):c.1116C>T (p.His372=)
NM_000152.5(GAA):c.1122C>T (p.Cys374=)
NM_000152.5(GAA):c.1123C>T (p.Arg375Cys) rs372486238
NM_000152.5(GAA):c.1124G>A (p.Arg375His) rs142752477
NM_000152.5(GAA):c.1124G>T (p.Arg375Leu) rs142752477
NM_000152.5(GAA):c.1128_1129delinsC (p.Trp376fs) rs786204646
NM_000152.5(GAA):c.1129G>T (p.Gly377Cys)
NM_000152.5(GAA):c.1133A>G (p.Tyr378Cys)
NM_000152.5(GAA):c.1134C>A (p.Tyr378Ter)
NM_000152.5(GAA):c.1136C>A (p.Ser379Tyr)
NM_000152.5(GAA):c.1136C>T (p.Ser379Phe)
NM_000152.5(GAA):c.1137C>G (p.Ser379=)
NM_000152.5(GAA):c.1140C>A (p.Ser380=)
NM_000152.5(GAA):c.1140C>T (p.Ser380=) rs1214685237
NM_000152.5(GAA):c.1143C>T (p.Thr381=) rs111832449
NM_000152.5(GAA):c.1143del (p.Ala382fs) rs757458607
NM_000152.5(GAA):c.1144G>A (p.Ala382Thr)
NM_000152.5(GAA):c.1147A>G (p.Ile383Val) rs794727837
NM_000152.5(GAA):c.1153C>T (p.Arg385Cys) rs767821988
NM_000152.5(GAA):c.1155C>T (p.Arg385=)
NM_000152.5(GAA):c.115C>A (p.Pro39Thr)
NM_000152.5(GAA):c.1165G>A (p.Glu389Lys)
NM_000152.5(GAA):c.1170C>T (p.Asn390=) rs757174980
NM_000152.5(GAA):c.1176C>T (p.Thr392=)
NM_000152.5(GAA):c.1180G>A (p.Ala394Thr)
NM_000152.5(GAA):c.1182C>T (p.Ala394=)
NM_000152.5(GAA):c.1188C>G (p.Phe396Leu) rs756126944
NM_000152.5(GAA):c.118C>G (p.Arg40Gly)
NM_000152.5(GAA):c.118C>T (p.Arg40Ter) rs767409395
NM_000152.5(GAA):c.1190C>T (p.Pro397Leu) rs776008078
NM_000152.5(GAA):c.1192C>A (p.Leu398Met)
NM_000152.5(GAA):c.1192C>T (p.Leu398=) rs369707231
NM_000152.5(GAA):c.1193del (p.Leu398fs) rs1057517286
NM_000152.5(GAA):c.1194+3G>C rs368539333
NM_000152.5(GAA):c.1194+6T>C rs1470004759
NM_000152.5(GAA):c.1194+8G>T
NM_000152.5(GAA):c.1195-15G>A rs373840229
NM_000152.5(GAA):c.1195-2A>C
NM_000152.5(GAA):c.1195-5T>C
NM_000152.5(GAA):c.1195-8G>A rs1194778188
NM_000152.5(GAA):c.1195-9T>C
NM_000152.5(GAA):c.1197C>T (p.Asp399=)
NM_000152.5(GAA):c.1198G>A (p.Val400Ile) rs758334520
NM_000152.5(GAA):c.119G>A (p.Arg40Gln) rs374476196
NM_000152.5(GAA):c.11G>A (p.Arg4Lys) rs372147077
NM_000152.5(GAA):c.1203G>A (p.Gln401=) rs1800304
NM_000152.5(GAA):c.1209C>T (p.Asn403=) rs751333479
NM_000152.5(GAA):c.1210G>A (p.Asp404Asn) rs141533320
NM_000152.5(GAA):c.1211A>G (p.Asp404Gly)
NM_000152.5(GAA):c.1212C>T (p.Asp404=)
NM_000152.5(GAA):c.1214T>C (p.Leu405Pro)
NM_000152.5(GAA):c.1218C>T (p.Asp406=)
NM_000152.5(GAA):c.1225dup (p.Asp409fs)
NM_000152.5(GAA):c.1228T>C (p.Ser410Pro)
NM_000152.5(GAA):c.1229C>T (p.Ser410Phe) rs777431563
NM_000152.5(GAA):c.1232G>A (p.Arg411Gln) rs372799904
NM_000152.5(GAA):c.1232G>C (p.Arg411Pro) rs372799904
NM_000152.5(GAA):c.1239C>T (p.Asp413=)
NM_000152.5(GAA):c.1245G>A (p.Thr415=) rs760920034
NM_000152.5(GAA):c.1253A>G (p.Lys418Arg)
NM_000152.5(GAA):c.1254G>A (p.Lys418=)
NM_000152.5(GAA):c.1264C>T (p.Arg422Trp) rs776704385
NM_000152.5(GAA):c.1265G>A (p.Arg422Gln) rs2229224
NM_000152.5(GAA):c.1273C>T (p.Pro425Ser) rs1283810246
NM_000152.5(GAA):c.1274C>T (p.Pro425Leu) rs765235868
NM_000152.5(GAA):c.1275G>A (p.Pro425=) rs762826072
NM_000152.5(GAA):c.1285C>G (p.Gln429Glu) rs528369909
NM_000152.5(GAA):c.1286A>G (p.Gln429Arg) rs200294882
NM_000152.5(GAA):c.1288G>A (p.Glu430Lys) rs375433002
NM_000152.5(GAA):c.1292_1295dup (p.Gln433fs) rs996798292
NM_000152.5(GAA):c.1293G>T (p.Leu431=)
NM_000152.5(GAA):c.1298A>G (p.Gln433Arg) rs201463496
NM_000152.5(GAA):c.1302C>T (p.Gly434=) rs752231775
NM_000152.5(GAA):c.1306C>T (p.Arg436Trp)
NM_000152.5(GAA):c.1308del (p.Arg437fs)
NM_000152.5(GAA):c.1309C>T (p.Arg437Cys) rs770610356
NM_000152.5(GAA):c.1310G>A (p.Arg437His) rs150868652
NM_000152.5(GAA):c.1316T>A (p.Met439Lys) rs747610090
NM_000152.5(GAA):c.1317G>A (p.Met439Ile)
NM_000152.5(GAA):c.1317GAT[1] (p.Met440del) rs1555600235
NM_000152.5(GAA):c.131G>T (p.Gly44Val) rs550609502
NM_000152.5(GAA):c.1320G>T (p.Met440Ile) rs550837627
NM_000152.5(GAA):c.1323C>T (p.Ile441=)
NM_000152.5(GAA):c.1324G>A (p.Val442Met) rs377559348
NM_000152.5(GAA):c.1326+8C>A rs762988038
NM_000152.5(GAA):c.1326+8C>T
NM_000152.5(GAA):c.1327-18A>G rs2278619
NM_000152.5(GAA):c.1327-5C>A
NM_000152.5(GAA):c.1327-7T>G
NM_000152.5(GAA):c.1327-8C>T rs1598579967
NM_000152.5(GAA):c.132C>T (p.Gly44=)
NM_000152.5(GAA):c.1332T>C (p.Pro444=) rs200007324
NM_000152.5(GAA):c.1336dup (p.Ile446fs)
NM_000152.5(GAA):c.1338C>T (p.Ile446=)
NM_000152.5(GAA):c.133T>G (p.Ser45Ala)
NM_000152.5(GAA):c.1343G>C (p.Ser448Thr) rs145712232
NM_000152.5(GAA):c.1343G>T (p.Ser448Ile) rs145712232
NM_000152.5(GAA):c.1346C>T (p.Ser449Leu) rs753483808
NM_000152.5(GAA):c.1347G>A (p.Ser449=) rs756938942
NM_000152.5(GAA):c.1347G>C (p.Ser449=)
NM_000152.5(GAA):c.1347_1365dup (p.Arg456fs)
NM_000152.5(GAA):c.134C>T (p.Ser45Phe)
NM_000152.5(GAA):c.1352C>G (p.Pro451Arg) rs7215458
NM_000152.5(GAA):c.1356C>T (p.Ala452=) rs757893858
NM_000152.5(GAA):c.1357G>A (p.Gly453Arg) rs550065979
NM_000152.5(GAA):c.1358G>A (p.Gly453Glu)
NM_000152.5(GAA):c.1370C>T (p.Pro457Leu)
NM_000152.5(GAA):c.1372T>C (p.Tyr458His) rs1567832012
NM_000152.5(GAA):c.1374C>T (p.Tyr458=) rs1800305
NM_000152.5(GAA):c.1375G>A (p.Asp459Asn) rs535644999
NM_000152.5(GAA):c.1375G>C (p.Asp459His) rs535644999
NM_000152.5(GAA):c.1375G>T (p.Asp459Tyr)
NM_000152.5(GAA):c.1377C>T (p.Asp459=)
NM_000152.5(GAA):c.1377dup (p.Glu460fs)
NM_000152.5(GAA):c.1378G>A (p.Glu460Lys) rs771213237
NM_000152.5(GAA):c.1387C>T (p.Arg463Trp) rs199748889
NM_000152.5(GAA):c.1388G>A (p.Arg463Gln) rs886053545
NM_000152.5(GAA):c.1388_1405del (p.Arg463_Thr469delinsPro)
NM_000152.5(GAA):c.138C>T (p.Ser46=) rs753375900
NM_000152.5(GAA):c.1390A>T (p.Arg464Trp)
NM_000152.5(GAA):c.1392G>C (p.Arg464Ser) rs372786811
NM_000152.5(GAA):c.1396G>C (p.Val466Leu) rs375006053
NM_000152.5(GAA):c.1396del (p.Val466fs)
NM_000152.5(GAA):c.1402A>T (p.Ile468Phe) rs886043148
NM_000152.5(GAA):c.1406C>T (p.Thr469Ile) rs768500880
NM_000152.5(GAA):c.1409A>C (p.Asn470Thr) rs144155165
NM_000152.5(GAA):c.1410C>A (p.Asn470Lys)
NM_000152.5(GAA):c.1410C>T (p.Asn470=) rs886043068
NM_000152.5(GAA):c.1411G>A (p.Glu471Lys)
NM_000152.5(GAA):c.1411_1414del (p.Glu471fs) rs770276275
NM_000152.5(GAA):c.1416C>A (p.Thr472=)
NM_000152.5(GAA):c.1416C>G (p.Thr472=) rs368492669
NM_000152.5(GAA):c.1416C>T (p.Thr472=) rs368492669
NM_000152.5(GAA):c.1417G>A (p.Gly473Ser) rs201409613
NM_000152.5(GAA):c.1418G>C (p.Gly473Ala) rs886043976
NM_000152.5(GAA):c.1425G>A (p.Pro475=) rs753140491
NM_000152.5(GAA):c.1426C>A (p.Leu476Met) rs756613882
NM_000152.5(GAA):c.1426_1429delinsGTTGG (p.Leu476fs)
NM_000152.5(GAA):c.1431T>G (p.Ile477Met) rs1598580369
NM_000152.5(GAA):c.1432G>A (p.Gly478Arg) rs778068209
NM_000152.5(GAA):c.1434G>A (p.Gly478=) rs886043285
NM_000152.5(GAA):c.1437+2T>C
NM_000152.5(GAA):c.1437+6G>A
NM_000152.5(GAA):c.1437+7C>G
NM_000152.5(GAA):c.1437+8G>A rs779194427
NM_000152.5(GAA):c.1438-10C>G
NM_000152.5(GAA):c.1438-10C>T rs1029231930
NM_000152.5(GAA):c.1438-19G>C rs2304844
NM_000152.5(GAA):c.1438-1G>C rs147804176
NM_000152.5(GAA):c.1438-1G>T rs147804176
NM_000152.5(GAA):c.1438-2A>G rs1555600730
NM_000152.5(GAA):c.1438-7T>C
NM_000152.5(GAA):c.1438-9G>A rs202211401
NM_000152.5(GAA):c.1438G>A (p.Val480Ile)
NM_000152.5(GAA):c.1439T>C (p.Val480Ala) rs1224298513
NM_000152.5(GAA):c.1440A>G (p.Val480=) rs1555600737
NM_000152.5(GAA):c.1441T>C (p.Trp481Arg) rs772883420
NM_000152.5(GAA):c.1443G>A (p.Trp481Ter)
NM_000152.5(GAA):c.1445C>G (p.Pro482Arg)
NM_000152.5(GAA):c.1446C>T (p.Pro482=) rs529513250
NM_000152.5(GAA):c.1447G>A (p.Gly483Arg) rs770590394
NM_000152.5(GAA):c.1455T>G (p.Thr485=)
NM_000152.5(GAA):c.1457C>T (p.Ala486Val)
NM_000152.5(GAA):c.1458C>T (p.Ala486=)
NM_000152.5(GAA):c.1464C>T (p.Pro488=)
NM_000152.5(GAA):c.1464dup (p.Asp489fs)
NM_000152.5(GAA):c.1465G>A (p.Asp489Asn) rs398123169
NM_000152.5(GAA):c.1478C>T (p.Pro493Leu) rs148842275
NM_000152.5(GAA):c.1482A>G (p.Thr494=) rs202064115
NM_000152.5(GAA):c.1486C>T (p.Leu496=) rs1598581572
NM_000152.5(GAA):c.1488G>A (p.Leu496=) rs750777002
NM_000152.5(GAA):c.148G>A (p.Glu50Lys) rs1555598609
NM_000152.5(GAA):c.148G>T (p.Glu50Ter)
NM_000152.5(GAA):c.1491C>T (p.Ala497=) rs373993015
NM_000152.5(GAA):c.1500G>A (p.Glu500=) rs893313279
NM_000152.5(GAA):c.1504A>G (p.Met502Val) rs376067362
NM_000152.5(GAA):c.1518C>T (p.Phe506=) rs1464913441
NM_000152.5(GAA):c.1519dup (p.His507fs)
NM_000152.5(GAA):c.1533C>G (p.Pro511=) rs1598581655
NM_000152.5(GAA):c.1536C>T (p.Phe512=) rs143491365
NM_000152.5(GAA):c.1537G>A (p.Asp513Asn)
NM_000152.5(GAA):c.1539C>T (p.Asp513=)
NM_000152.5(GAA):c.1540G>A (p.Gly514Ser)
NM_000152.5(GAA):c.1548G>A (p.Trp516Ter) rs140826989
NM_000152.5(GAA):c.1551+10G>T
NM_000152.5(GAA):c.1551+7G>A
NM_000152.5(GAA):c.1551+7G>T
NM_000152.5(GAA):c.1552-13G>A rs111261964
NM_000152.5(GAA):c.1552-14_1552-1del rs1567833173
NM_000152.5(GAA):c.1552-3C>G rs375470378
NM_000152.5(GAA):c.1552-8T>C
NM_000152.5(GAA):c.1554C>T (p.Asp518=)
NM_000152.5(GAA):c.1555A>G (p.Met519Val)
NM_000152.5(GAA):c.1557_1561dup (p.Glu521fs)
NM_000152.5(GAA):c.1559A>G (p.Asn520Ser)
NM_000152.5(GAA):c.1560C>T (p.Asn520=) rs116322271
NM_000152.5(GAA):c.1564C>G (p.Pro522Ala) rs892129065
NM_000152.5(GAA):c.1564C>T (p.Pro522Ser)
NM_000152.5(GAA):c.1568C>G (p.Ser523Cys)
NM_000152.5(GAA):c.1576A>G (p.Ile526Val)
NM_000152.5(GAA):c.1579_1580del (p.Arg527fs)
NM_000152.5(GAA):c.1579del (p.Arg527fs)
NM_000152.5(GAA):c.1581G>A (p.Arg527=) rs1042396
NM_000152.5(GAA):c.1585T>C (p.Ser529Pro) rs1598582021
NM_000152.5(GAA):c.1593C>T (p.Asp531=) rs138732016
NM_000152.5(GAA):c.1594G>A (p.Gly532Ser) rs773576381
NM_000152.5(GAA):c.1594G>T (p.Gly532Cys)
NM_000152.5(GAA):c.1599C>T (p.Cys533=) rs142766716
NM_000152.5(GAA):c.159C>T (p.His53=)
NM_000152.5(GAA):c.1601C>G (p.Pro534Arg) rs1039935633
NM_000152.5(GAA):c.1601C>T (p.Pro534Leu)
NM_000152.5(GAA):c.1602C>A (p.Pro534=)
NM_000152.5(GAA):c.1605C>A (p.Asn535Lys)
NM_000152.5(GAA):c.1607A>G (p.Asn536Ser) rs368568190
NM_000152.5(GAA):c.1608T>G (p.Asn536Lys)
NM_000152.5(GAA):c.1619A>G (p.Asn540Ser)
NM_000152.5(GAA):c.161C>T (p.Pro54Leu)
NM_000152.5(GAA):c.1625C>T (p.Pro542Leu) rs1598582130
NM_000152.5(GAA):c.1626C>G (p.Pro542=) rs947585663
NM_000152.5(GAA):c.1629C>T (p.Tyr543=) rs372193105
NM_000152.5(GAA):c.1629_1630delinsTA (p.Val544Met) rs1598582152
NM_000152.5(GAA):c.1630G>A (p.Val544Met) rs567695610
NM_000152.5(GAA):c.1631T>A (p.Val544Glu) rs1567833361
NM_000152.5(GAA):c.1633C>T (p.Pro545Ser)
NM_000152.5(GAA):c.1636+10C>A
NM_000152.5(GAA):c.1636+15dup
NM_000152.5(GAA):c.1636+7T>C rs1041767114
NM_000152.5(GAA):c.1636+8C>T rs572293131
NM_000152.5(GAA):c.1636+9G>A
NM_000152.5(GAA):c.1636+9G>T rs200302174
NM_000152.5(GAA):c.1637-9C>T
NM_000152.5(GAA):c.1642G>T (p.Val548Phe) rs1567834141
NM_000152.5(GAA):c.1643T>C (p.Val548Ala)
NM_000152.5(GAA):c.1646G>C (p.Gly549Ala)
NM_000152.5(GAA):c.1650G>A (p.Gly550=)
NM_000152.5(GAA):c.1650dup (p.Thr551fs)
NM_000152.5(GAA):c.1655T>C (p.Leu552Pro) rs779556619
NM_000152.5(GAA):c.1656C>A (p.Leu552=)
NM_000152.5(GAA):c.1662G>A (p.Ala554=) rs775954786
NM_000152.5(GAA):c.1669A>G (p.Ile557Val)
NM_000152.5(GAA):c.1669A>T (p.Ile557Phe) rs747150965
NM_000152.5(GAA):c.1674T>C (p.Cys558=)
NM_000152.5(GAA):c.167A>T (p.His56Leu)
NM_000152.5(GAA):c.1680C>T (p.Ser560=)
NM_000152.5(GAA):c.1683C>T (p.Ser561=)
NM_000152.5(GAA):c.1692T>G (p.Phe564Leu) rs886043997
NM_000152.5(GAA):c.1695C>G (p.Leu565=)
NM_000152.5(GAA):c.1699A>C (p.Thr567Pro)
NM_000152.5(GAA):c.169C>T (p.Gln57Ter) rs1057516251
NM_000152.5(GAA):c.1704C>T (p.His568=)
NM_000152.5(GAA):c.1704dup (p.Tyr569fs)
NM_000152.5(GAA):c.1710C>G (p.Asn570Lys) rs765362308
NM_000152.5(GAA):c.1710C>T (p.Asn570=)
NM_000152.5(GAA):c.1711C>T (p.Leu571=)
NM_000152.5(GAA):c.1715A>C (p.His572Pro)
NM_000152.5(GAA):c.1716C>T (p.His572=)
NM_000152.5(GAA):c.1719C>A (p.Asn573Lys)
NM_000152.5(GAA):c.1719C>T (p.Asn573=)
NM_000152.5(GAA):c.1722C>T (p.Leu574=) rs561357893
NM_000152.5(GAA):c.1725C>T (p.Tyr575=) rs112517802
NM_000152.5(GAA):c.1726G>A (p.Gly576Ser) rs1800307
NM_000152.5(GAA):c.1727G>A (p.Gly576Asp) rs1555601255
NM_000152.5(GAA):c.172C>T (p.Gln58Ter) rs201185475
NM_000152.5(GAA):c.1734C>T (p.Thr578=)
NM_000152.5(GAA):c.1735G>A (p.Glu579Lys) rs991082382
NM_000152.5(GAA):c.1739C>T (p.Ala580Val)
NM_000152.5(GAA):c.1743C>G (p.Ile581Met)
NM_000152.5(GAA):c.1743C>T (p.Ile581=) rs527970795
NM_000152.5(GAA):c.1744G>A (p.Ala582Thr)
NM_000152.5(GAA):c.1750C>A (p.His584Asn) rs780475756
NM_000152.5(GAA):c.1753A>T (p.Arg585Trp) rs1555601273
NM_000152.5(GAA):c.1754+12G>A rs2304840
NM_000152.5(GAA):c.1754+1_1754+7del
NM_000152.5(GAA):c.1754+6G>C rs1282791373
NM_000152.5(GAA):c.1754+9C>G
NM_000152.5(GAA):c.1754G>A (p.Arg585Lys)
NM_000152.5(GAA):c.1755-1G>A
NM_000152.5(GAA):c.1755-3C>T
NM_000152.5(GAA):c.1755-7A>G rs781539108
NM_000152.5(GAA):c.1757C>T (p.Ala586Val) rs770021831
NM_000152.5(GAA):c.1758G>A (p.Ala586=) rs79795428
NM_000152.5(GAA):c.1761_1765delinsT (p.Val588fs)
NM_000152.5(GAA):c.1771C>T (p.Arg591Trp) rs770983413
NM_000152.5(GAA):c.1776G>A (p.Gly592=)
NM_000152.5(GAA):c.1776G>C (p.Gly592=)
NM_000152.5(GAA):c.1780C>T (p.Arg594Cys) rs1428112902
NM_000152.5(GAA):c.1781G>C (p.Arg594Pro) rs775450536
NM_000152.5(GAA):c.1796C>A (p.Ser599Tyr) rs753505203
NM_000152.5(GAA):c.1797C>T (p.Ser599=)
NM_000152.5(GAA):c.1798C>T (p.Arg600Cys) rs764670084
NM_000152.5(GAA):c.1799G>A (p.Arg600His) rs377544304
NM_000152.5(GAA):c.17C>A (p.Pro6Gln) rs771409180
NM_000152.5(GAA):c.17C>T (p.Pro6Leu) rs771409180
NM_000152.5(GAA):c.1800C>T (p.Arg600=) rs1598584611
NM_000152.5(GAA):c.1802C>A (p.Ser601Ter) rs374470794
NM_000152.5(GAA):c.1802C>T (p.Ser601Leu) rs374470794
NM_000152.5(GAA):c.1803G>A (p.Ser601=) rs368993048
NM_000152.5(GAA):c.1803G>T (p.Ser601=) rs368993048
NM_000152.5(GAA):c.1806C>A (p.Thr602=) rs1598584645
NM_000152.5(GAA):c.1815C>T (p.Gly605=)
NM_000152.5(GAA):c.1817A>C (p.His606Pro)
NM_000152.5(GAA):c.1818C>T (p.His606=) rs374368644
NM_000152.5(GAA):c.1819G>A (p.Gly607Ser) rs940955642
NM_000152.5(GAA):c.1822C>T (p.Arg608Ter)
NM_000152.5(GAA):c.1823G>A (p.Arg608Gln) rs377126280
NM_000152.5(GAA):c.1826A>T (p.Tyr609Phe)
NM_000152.5(GAA):c.1826dup (p.Tyr609Ter) rs786204727
NM_000152.5(GAA):c.1827C>T (p.Tyr609=) rs745754277
NM_000152.5(GAA):c.1827del (p.Arg608_Tyr609insTer) rs781088002
NM_000152.5(GAA):c.1828G>A (p.Ala610Thr) rs144731405
NM_000152.5(GAA):c.1830C>T (p.Ala610=) rs61736896
NM_000152.5(GAA):c.1831G>A (p.Gly611Ser)
NM_000152.5(GAA):c.1832G>A (p.Gly611Asp) rs1057517105
NM_000152.5(GAA):c.183C>T (p.Ser61=) rs17853995
NM_000152.5(GAA):c.1841C>A (p.Thr614Lys) rs369531647
NM_000152.5(GAA):c.1841C>T (p.Thr614Met) rs369531647
NM_000152.5(GAA):c.1842G>A (p.Thr614=) rs373955374
NM_000152.5(GAA):c.1842G>C (p.Thr614=)
NM_000152.5(GAA):c.1843G>A (p.Gly615Arg) rs549029029
NM_000152.5(GAA):c.1844G>T (p.Gly615Val)
NM_000152.5(GAA):c.1848C>T (p.Asp616=) rs377175810
NM_000152.5(GAA):c.1849G>A (p.Val617Met) rs767977395
NM_000152.5(GAA):c.1851G>A (p.Val617=) rs886042906
NM_000152.5(GAA):c.1856G>A (p.Ser619Asn) rs753269119
NM_000152.5(GAA):c.1857C>G (p.Ser619Arg) rs914396317
NM_000152.5(GAA):c.1860C>T (p.Ser620=) rs370369972
NM_000152.5(GAA):c.1870C>T (p.Leu624Phe)
NM_000152.5(GAA):c.1871T>C (p.Leu624Pro)
NM_000152.5(GAA):c.1872C>T (p.Leu624=) rs373103422
NM_000152.5(GAA):c.1873G>T (p.Ala625Ser)
NM_000152.5(GAA):c.1876T>G (p.Ser626Ala) rs1235035841
NM_000152.5(GAA):c.1880C>T (p.Ser627Phe) rs1024137874
NM_000152.5(GAA):c.1881C>T (p.Ser627=)
NM_000152.5(GAA):c.1882G>A (p.Val628Met) rs745911962
NM_000152.5(GAA):c.1884G>C (p.Val628=) rs780130036
NM_000152.5(GAA):c.1888+1G>A
NM_000152.5(GAA):c.1888+5G>T rs528282884
NM_000152.5(GAA):c.1888+6_1888+14del
NM_000152.5(GAA):c.1888+8C>T rs772887194
NM_000152.5(GAA):c.1889-5C>T rs794727115
NM_000152.5(GAA):c.1889-7C>G
NM_000152.5(GAA):c.1893C>T (p.Ile631=) rs1598585395
NM_000152.5(GAA):c.1898A>C (p.Gln633Pro)
NM_000152.5(GAA):c.18G>A (p.Pro6=) rs774703637
NM_000152.5(GAA):c.18G>C (p.Pro6=) rs774703637
NM_000152.5(GAA):c.1905C>T (p.Asn635=)
NM_000152.5(GAA):c.1906C>T (p.Leu636=)
NM_000152.5(GAA):c.1909C>A (p.Leu637Met)
NM_000152.5(GAA):c.1912G>T (p.Gly638Trp) rs757617999
NM_000152.5(GAA):c.1913G>T (p.Gly638Val)
NM_000152.5(GAA):c.1914G>A (p.Gly638=) rs1305357140
NM_000152.5(GAA):c.1920T>G (p.Pro640=) rs144090460
NM_000152.5(GAA):c.1926C>T (p.Val642=)
NM_000152.5(GAA):c.1927G>A (p.Gly643Arg) rs28937909
NM_000152.5(GAA):c.1927G>T (p.Gly643Trp)
NM_000152.5(GAA):c.1929G>A (p.Gly643=) rs371096565
NM_000152.5(GAA):c.1930G>T (p.Ala644Ser)
NM_000152.5(GAA):c.1932C>T (p.Ala644=) rs746194098
NM_000152.5(GAA):c.1933G>A (p.Asp645Asn) rs368438393
NM_000152.5(GAA):c.1933G>C (p.Asp645His) rs368438393
NM_000152.5(GAA):c.1935C>A (p.Asp645Glu) rs28940868
NM_000152.5(GAA):c.1935C>T (p.Asp645=)
NM_000152.5(GAA):c.1936G>A (p.Val646Ile)
NM_000152.5(GAA):c.1941C>A (p.Cys647Ter) rs776948121
NM_000152.5(GAA):c.1941C>G (p.Cys647Trp) rs776948121
NM_000152.5(GAA):c.1941C>T (p.Cys647=) rs776948121
NM_000152.5(GAA):c.1942G>A (p.Gly648Ser) rs536906561
NM_000152.5(GAA):c.1943G>T (p.Gly648Val) rs1448515860
NM_000152.5(GAA):c.1947C>A (p.Phe649Leu) rs770248553
NM_000152.5(GAA):c.1948C>A (p.Leu650Met) rs1359573192
NM_000152.5(GAA):c.194C>A (p.Pro65His) rs1482530928
NM_000152.5(GAA):c.1952G>A (p.Gly651Asp)
NM_000152.5(GAA):c.1952del (p.Gly651fs) rs1567835775
NM_000152.5(GAA):c.1958C>A (p.Thr653Asn)
NM_000152.5(GAA):c.1959C>T (p.Thr653=)
NM_000152.5(GAA):c.1972T>G (p.Cys658Gly)
NM_000152.5(GAA):c.1976_1977del (p.Val659fs)
NM_000152.5(GAA):c.1977G>A (p.Val659=) rs751873094
NM_000152.5(GAA):c.1978C>T (p.Arg660Cys) rs759518659
NM_000152.5(GAA):c.1979G>A (p.Arg660His) rs374143224
NM_000152.5(GAA):c.197G>A (p.Arg66Gln) rs200202628
NM_000152.5(GAA):c.1985C>T (p.Thr662Ile)
NM_000152.5(GAA):c.1986C>T (p.Thr662=)
NM_000152.5(GAA):c.1987C>T (p.Gln663Ter)
NM_000152.5(GAA):c.1989G>A (p.Gln663=) rs1189531783
NM_000152.5(GAA):c.1989G>T (p.Gln663His)
NM_000152.5(GAA):c.1996G>A (p.Ala666Thr) rs916566117
NM_000152.5(GAA):c.1996G>T (p.Ala666Ser) rs916566117
NM_000152.5(GAA):c.199del (p.Asp67fs)
NM_000152.5(GAA):c.1A>G (p.Met1Val) rs786204467
NM_000152.5(GAA):c.2003A>G (p.Tyr668Cys) rs1555601633
NM_000152.5(GAA):c.2012T>C (p.Met671Thr)
NM_000152.5(GAA):c.2014C>T (p.Arg672Trp) rs757111744
NM_000152.5(GAA):c.2015G>A (p.Arg672Gln) rs778418246
NM_000152.5(GAA):c.2025C>T (p.Asn675=) rs143951130
NM_000152.5(GAA):c.2035A>G (p.Ser679Gly)
NM_000152.5(GAA):c.2040+11_2040+18dup
NM_000152.5(GAA):c.2040+1G>T rs1057516928
NM_000152.5(GAA):c.2040+20A>G rs2304836
NM_000152.5(GAA):c.2040+4G>C rs1598585909
NM_000152.5(GAA):c.2040+8G>A
NM_000152.5(GAA):c.2040+8G>C rs779647712
NM_000152.5(GAA):c.2041-4G>A
NM_000152.5(GAA):c.2041-4G>T rs775757700
NM_000152.5(GAA):c.2041-7C>T
NM_000152.5(GAA):c.2041C>T (p.Pro681Ser)
NM_000152.5(GAA):c.2043C>A (p.Pro681=)
NM_000152.5(GAA):c.2043C>T (p.Pro681=)
NM_000152.5(GAA):c.2045A>G (p.Gln682Arg) rs1484576607
NM_000152.5(GAA):c.204C>T (p.Ala68=)
NM_000152.5(GAA):c.2050C>T (p.Pro684Ser) rs776486462
NM_000152.5(GAA):c.2051C>T (p.Pro684Leu) rs147327209
NM_000152.5(GAA):c.2052G>A (p.Pro684=) rs546463058
NM_000152.5(GAA):c.2055C>T (p.Tyr685=) rs750214208
NM_000152.5(GAA):c.2057_2058delinsAA (p.Ser686Lys) rs1598586309
NM_000152.5(GAA):c.205C>G (p.Gln69Glu) rs370174315
NM_000152.5(GAA):c.2064C>T (p.Ser688=) rs140996643
NM_000152.5(GAA):c.2066_2070dup (p.Ala691fs) rs398123171
NM_000152.5(GAA):c.2069C>T (p.Pro690Leu) rs532624326
NM_000152.5(GAA):c.206A>G (p.Gln69Arg)
NM_000152.5(GAA):c.2070G>A (p.Pro690=)
NM_000152.5(GAA):c.2074C>T (p.Gln692Ter)
NM_000152.5(GAA):c.2077C>A (p.Gln693Lys)
NM_000152.5(GAA):c.2078A>G (p.Gln693Arg)
NM_000152.5(GAA):c.2082del (p.Ala694_Met695insTer)
NM_000152.5(GAA):c.2092G>A (p.Ala698Thr) rs367632754
NM_000152.5(GAA):c.2097C>T (p.Leu699=) rs1381174968
NM_000152.5(GAA):c.2099C>T (p.Thr700Ile)
NM_000152.5(GAA):c.209C>A (p.Ala70Glu) rs775376321
NM_000152.5(GAA):c.2100C>T (p.Thr700=) rs199571088
NM_000152.5(GAA):c.2104C>T (p.Arg702Cys) rs786204645
NM_000152.5(GAA):c.2105G>A (p.Arg702His) rs398123172
NM_000152.5(GAA):c.2105G>T (p.Arg702Leu) rs398123172
NM_000152.5(GAA):c.2109C>T (p.Tyr703=) rs150728610
NM_000152.5(GAA):c.2110G>A (p.Ala704Thr)
NM_000152.5(GAA):c.2115C>T (p.Leu705=)
NM_000152.5(GAA):c.2118C>G (p.Leu706=)
NM_000152.5(GAA):c.2118C>T (p.Leu706=)
NM_000152.5(GAA):c.2122C>A (p.His708Asn) rs149916476
NM_000152.5(GAA):c.2122C>G (p.His708Asp)
NM_000152.5(GAA):c.2122C>T (p.His708Tyr) rs149916476
NM_000152.5(GAA):c.2124C>T (p.His708=)
NM_000152.5(GAA):c.212A>G (p.His71Arg) rs760205477
NM_000152.5(GAA):c.2132_2133delinsGG (p.Thr711Arg) rs1555601773
NM_000152.5(GAA):c.2133A>G (p.Thr711=) rs1800310
NM_000152.5(GAA):c.2134C>T (p.Leu712=)
NM_000152.5(GAA):c.2140C>T (p.His714Tyr) rs1332887976
NM_000152.5(GAA):c.2140del (p.His714fs) rs786204549
NM_000152.5(GAA):c.2142C>T (p.His714=)
NM_000152.5(GAA):c.2148C>A (p.Ala716=)
NM_000152.5(GAA):c.2151C>T (p.His717=) rs758725073
NM_000152.5(GAA):c.2152G>A (p.Val718Ile) rs141017311
NM_000152.5(GAA):c.2154C>G (p.Val718=) rs1800311
NM_000152.5(GAA):c.2154C>T (p.Val718=) rs1800311
NM_000152.5(GAA):c.2155G>A (p.Ala719Thr) rs143324027
NM_000152.5(GAA):c.2155G>T (p.Ala719Ser) rs143324027
NM_000152.5(GAA):c.2156C>A (p.Ala719Glu) rs146762316
NM_000152.5(GAA):c.2156C>T (p.Ala719Val) rs146762316
NM_000152.5(GAA):c.2157G>A (p.Ala719=) rs201523530
NM_000152.5(GAA):c.2161G>C (p.Glu721Gln) rs140376273
NM_000152.5(GAA):c.2163G>A (p.Glu721=)
NM_000152.5(GAA):c.2164A>T (p.Thr722Ser) rs774307734
NM_000152.5(GAA):c.2166C>T (p.Thr722=) rs759452172
NM_000152.5(GAA):c.2167G>A (p.Val723Met)
NM_000152.5(GAA):c.216C>T (p.Pro72=) rs753287841
NM_000152.5(GAA):c.2170G>A (p.Ala724Thr)
NM_000152.5(GAA):c.2172C>T (p.Ala724=)
NM_000152.5(GAA):c.2173C>T (p.Arg725Trp) rs121907938
NM_000152.5(GAA):c.2173del (p.Arg725fs)
NM_000152.5(GAA):c.2174G>A (p.Arg725Gln) rs577042191
NM_000152.5(GAA):c.2175G>T (p.Arg725=)
NM_000152.5(GAA):c.2178C>A (p.Pro726=)
NM_000152.5(GAA):c.2178C>T (p.Pro726=)
NM_000152.5(GAA):c.2179C>T (p.Leu727Phe) rs1290010789
NM_000152.5(GAA):c.217G>A (p.Gly73Ser)
NM_000152.5(GAA):c.217G>T (p.Gly73Cys)
NM_000152.5(GAA):c.2182T>C (p.Phe728Leu) rs1232306443
NM_000152.5(GAA):c.2185del (p.Leu729fs) rs1057516581
NM_000152.5(GAA):c.2189+10C>T
NM_000152.5(GAA):c.2189+9C>G
NM_000152.5(GAA):c.2190-10C>A rs1567838707
NM_000152.5(GAA):c.2190-4G>A rs759974338
NM_000152.5(GAA):c.2196C>A (p.Pro732=) rs915890435
NM_000152.5(GAA):c.2198A>G (p.Lys733Arg)
NM_000152.5(GAA):c.2205T>C (p.Ser735=)
NM_000152.5(GAA):c.2207G>A (p.Ser736Asn) rs553430197
NM_000152.5(GAA):c.2211C>T (p.Thr737=)
NM_000152.5(GAA):c.2214G>A (p.Trp738Ter) rs1057516328
NM_000152.5(GAA):c.2215A>G (p.Thr739Ala)
NM_000152.5(GAA):c.2215A>T (p.Thr739Ser) rs578245757
NM_000152.5(GAA):c.2218G>A (p.Val740Met) rs752122499
NM_000152.5(GAA):c.221G>A (p.Arg74His)
NM_000152.5(GAA):c.2221G>A (p.Asp741Asn) rs755272974
NM_000152.5(GAA):c.2223C>G (p.Asp741Glu) rs767773929
NM_000152.5(GAA):c.2227C>T (p.Gln743Ter) rs1057516277
NM_000152.5(GAA):c.2230C>T (p.Leu744Phe) rs1347832021
NM_000152.5(GAA):c.2235G>A (p.Leu745=)
NM_000152.5(GAA):c.2237G>A (p.Trp746Ter) rs752921215
NM_000152.5(GAA):c.2237G>C (p.Trp746Ser) rs752921215
NM_000152.5(GAA):c.2237G>T (p.Trp746Leu) rs752921215
NM_000152.5(GAA):c.2238G>A (p.Trp746Ter) rs1800312
NM_000152.5(GAA):c.2238G>C (p.Trp746Cys) rs1800312
NM_000152.5(GAA):c.223C>T (p.Pro75Ser) rs755561471
NM_000152.5(GAA):c.2242dup (p.Glu748fs) rs777275355
NM_000152.5(GAA):c.2245G>T (p.Ala749Ser) rs148311222
NM_000152.5(GAA):c.2253C>T (p.Leu751=) rs140441758
NM_000152.5(GAA):c.2268C>T (p.Leu756=)
NM_000152.5(GAA):c.2269C>T (p.Gln757Ter) rs200483245
NM_000152.5(GAA):c.2274C>T (p.Ala758=) rs150431943
NM_000152.5(GAA):c.2275G>A (p.Gly759Arg) rs138183791
NM_000152.5(GAA):c.2281delinsAT (p.Ala761fs) rs1057516924
NM_000152.5(GAA):c.2283C>T (p.Ala761=) rs774769974
NM_000152.5(GAA):c.2284G>A (p.Glu762Lys) rs760063214
NM_000152.5(GAA):c.2284G>T (p.Glu762Ter)
NM_000152.5(GAA):c.2289G>A (p.Val763=)
NM_000152.5(GAA):c.2294G>A (p.Gly765Asp)
NM_000152.5(GAA):c.2296T>A (p.Tyr766Asn)
NM_000152.5(GAA):c.2297A>C (p.Tyr766Ser) rs144016984
NM_000152.5(GAA):c.2297A>G (p.Tyr766Cys) rs144016984
NM_000152.5(GAA):c.229G>T (p.Ala77Ser) rs781365881
NM_000152.5(GAA):c.2300del (p.Phe767fs) rs1555602692
NM_000152.5(GAA):c.2306T>C (p.Leu769Ser)
NM_000152.5(GAA):c.2307G>A (p.Leu769=)
NM_000152.5(GAA):c.2307G>C (p.Leu769Phe) rs372800172
NM_000152.5(GAA):c.2319C>T (p.Tyr773=) rs377402848
NM_000152.5(GAA):c.231A>G (p.Ala77=)
NM_000152.5(GAA):c.2323C>A (p.Leu775Met) rs147290429
NM_000152.5(GAA):c.2325G>A (p.Leu775=)
NM_000152.5(GAA):c.2330C>T (p.Thr777Met) rs746779016
NM_000152.5(GAA):c.2330_2331+4dup rs762245732
NM_000152.5(GAA):c.2331+20G>A rs2304832
NM_000152.5(GAA):c.2331+4A>C
NM_000152.5(GAA):c.2331G>A (p.Thr777=) rs375311693
NM_000152.5(GAA):c.2332-10C>G rs373606162
NM_000152.5(GAA):c.2332-12A>T rs200965268
NM_000152.5(GAA):c.2332-1G>C rs1555602832
NM_000152.5(GAA):c.2332-5T>G rs1276069832
NM_000152.5(GAA):c.2338G>A (p.Val780Ile) rs1126690
NM_000152.5(GAA):c.2347C>T (p.Leu783Phe)
NM_000152.5(GAA):c.2355C>T (p.Ser785=)
NM_000152.5(GAA):c.235C>T (p.Pro79Ser)
NM_000152.5(GAA):c.2362C>A (p.Pro788Thr)
NM_000152.5(GAA):c.2366C>A (p.Pro789Gln)
NM_000152.5(GAA):c.2367A>G (p.Pro789=)
NM_000152.5(GAA):c.2367dup (p.Pro790fs) rs1555602860
NM_000152.5(GAA):c.2368C>T (p.Pro790Ser)
NM_000152.5(GAA):c.2381G>A (p.Arg794His) rs200505871
NM_000152.5(GAA):c.2381G>C (p.Arg794Pro)
NM_000152.5(GAA):c.2383G>T (p.Glu795Ter) rs886043882
NM_000152.5(GAA):c.2389G>A (p.Ala797Thr) rs539031621
NM_000152.5(GAA):c.2391C>T (p.Ala797=) rs767494597
NM_000152.5(GAA):c.2392A>G (p.Ile798Val)
NM_000152.5(GAA):c.2395C>T (p.His799Tyr) rs143347747
NM_000152.5(GAA):c.2400C>T (p.Ser800=) rs115705591
NM_000152.5(GAA):c.2401G>A (p.Glu801Lys)
NM_000152.5(GAA):c.2403G>A (p.Glu801=)
NM_000152.5(GAA):c.2404G>A (p.Gly802Arg) rs148412962
NM_000152.5(GAA):c.2407C>T (p.Gln803Ter) rs1344266804
NM_000152.5(GAA):c.2408A>G (p.Gln803Arg) rs142487534
NM_000152.5(GAA):c.2408_2426del (p.Gln803fs)
NM_000152.5(GAA):c.2409G>A (p.Gln803=)
NM_000152.5(GAA):c.240A>G (p.Thr80=) rs778124725
NM_000152.5(GAA):c.2415G>A (p.Val805=) rs150536507
NM_000152.5(GAA):c.2415G>T (p.Val805=)
NM_000152.5(GAA):c.2417C>T (p.Thr806Met) rs139850074
NM_000152.5(GAA):c.2418G>A (p.Thr806=) rs371528938
NM_000152.5(GAA):c.241C>T (p.Gln81Ter) rs1555598687
NM_000152.5(GAA):c.2423C>T (p.Pro808Leu) rs773498009
NM_000152.5(GAA):c.2424G>A (p.Pro808=) rs763272351
NM_000152.5(GAA):c.2427C>G (p.Ala809=) rs766325117
NM_000152.5(GAA):c.2428C>T (p.Pro810Ser)
NM_000152.5(GAA):c.2430C>G (p.Pro810=) rs554839058
NM_000152.5(GAA):c.2430C>T (p.Pro810=) rs554839058
NM_000152.5(GAA):c.2432del (p.Leu811fs)
NM_000152.5(GAA):c.2444A>C (p.Asn815Thr)
NM_000152.5(GAA):c.2444A>G (p.Asn815Ser)
NM_000152.5(GAA):c.2445C>T (p.Asn815=) rs755846997
NM_000152.5(GAA):c.2446G>A (p.Val816Ile) rs1800314
NM_000152.5(GAA):c.244T>C (p.Cys82Arg)
NM_000152.5(GAA):c.2451C>T (p.His817=)
NM_000152.5(GAA):c.2455C>T (p.Arg819Trp) rs61736895
NM_000152.5(GAA):c.2456G>A (p.Arg819Gln) rs374687883
NM_000152.5(GAA):c.2458G>T (p.Ala820Ser) rs745378120
NM_000152.5(GAA):c.2459C>T (p.Ala820Val) rs786204304
NM_000152.5(GAA):c.2459_2461del (p.Ala820del) rs1182634884
NM_000152.5(GAA):c.2466C>T (p.Tyr822=)
NM_000152.5(GAA):c.2467A>T (p.Ile823Phe) rs758038288
NM_000152.5(GAA):c.246C>T (p.Cys82=) rs749584846
NM_000152.5(GAA):c.2476C>T (p.Leu826=)
NM_000152.5(GAA):c.2478G>A (p.Leu826=) rs201183207
NM_000152.5(GAA):c.247G>A (p.Asp83Asn) rs771101156
NM_000152.5(GAA):c.2480A>G (p.Gln827Arg)
NM_000152.5(GAA):c.2481+110_2646+39del rs1598592604
NM_000152.5(GAA):c.2481+16G>A rs41292408
NM_000152.5(GAA):c.2481+5C>G rs1598592432
NM_000152.5(GAA):c.2481+6T>C rs1479232207
NM_000152.5(GAA):c.2481+7G>A
NM_000152.5(GAA):c.2482-8C>A
NM_000152.5(GAA):c.2482-8C>G
NM_000152.5(GAA):c.2482-8C>T
NM_000152.5(GAA):c.2488G>C (p.Gly830Arg) rs1598593166
NM_000152.5(GAA):c.2495C>T (p.Thr832Ile) rs1555603057
NM_000152.5(GAA):c.2496A>G (p.Thr832=)
NM_000152.5(GAA):c.249C>T (p.Asp83=) rs377351519
NM_000152.5(GAA):c.2501_2502del (p.Thr834fs) rs886043343
NM_000152.5(GAA):c.2505G>C (p.Glu835Asp) rs771259598
NM_000152.5(GAA):c.2509C>T (p.Arg837Cys) rs752421149
NM_000152.5(GAA):c.250G>A (p.Val84Ile) rs139595011
NM_000152.5(GAA):c.2510G>A (p.Arg837His) rs746095374
NM_000152.5(GAA):c.2515C>A (p.Gln839Lys) rs920085419
NM_000152.5(GAA):c.2520C>T (p.Pro840=)
NM_000152.5(GAA):c.2521A>G (p.Met841Val) rs1184116513
NM_000152.5(GAA):c.2525C>T (p.Ala842Val)
NM_000152.5(GAA):c.2529G>A (p.Leu843=)
NM_000152.5(GAA):c.252C>A (p.Val84=)
NM_000152.5(GAA):c.252C>T (p.Val84=) rs775079960
NM_000152.5(GAA):c.2544C>T (p.Thr848=) rs776487269
NM_000152.5(GAA):c.2550T>C (p.Gly850=)
NM_000152.5(GAA):c.2553G>A (p.Gly851=) rs1042397
NM_000152.5(GAA):c.2553G>C (p.Gly851=)
NM_000152.5(GAA):c.2555A>G (p.Glu852Gly)
NM_000152.5(GAA):c.2559C>G (p.Ala853=)
NM_000152.5(GAA):c.2560C>T (p.Arg854Ter) rs121907943
NM_000152.5(GAA):c.2561G>A (p.Arg854Gln) rs149968110
NM_000152.5(GAA):c.2566G>A (p.Glu856Lys)
NM_000152.5(GAA):c.2571G>T (p.Leu857=) rs17853996
NM_000152.5(GAA):c.257C>G (p.Pro86Arg) rs2229222
NM_000152.5(GAA):c.2580C>T (p.Asp860=) rs61736894
NM_000152.5(GAA):c.2581G>A (p.Asp861Asn)
NM_000152.5(GAA):c.258C>A (p.Pro86=) rs146615896
NM_000152.5(GAA):c.258dup (p.Asn87fs) rs761317813
NM_000152.5(GAA):c.2595G>A (p.Leu865=)
NM_000152.5(GAA):c.2597A>C (p.Glu866Ala)
NM_000152.5(GAA):c.2597A>T (p.Glu866Val) rs951742543
NM_000152.5(GAA):c.2598A>C (p.Glu866Asp) rs1445358978
NM_000152.5(GAA):c.2604G>A (p.Leu868=)
NM_000152.5(GAA):c.2608C>A (p.Arg870=)
NM_000152.5(GAA):c.2608C>T (p.Arg870Ter) rs780321415
NM_000152.5(GAA):c.2609G>A (p.Arg870Gln) rs747076541
NM_000152.5(GAA):c.260A>G (p.Asn87Ser)
NM_000152.5(GAA):c.2610A>G (p.Arg870=)
NM_000152.5(GAA):c.261C>G (p.Asn87Lys)
NM_000152.5(GAA):c.2637G>A (p.Leu879=)
NM_000152.5(GAA):c.2641A>G (p.Arg881Gly) rs769578772
NM_000152.5(GAA):c.2643G>A (p.Arg881=)
NM_000152.5(GAA):c.2646+8C>A
NM_000152.5(GAA):c.2646+8del
NM_000152.5(GAA):c.2646+9T>C
NM_000152.5(GAA):c.2647-23del rs749000061
NM_000152.5(GAA):c.2647-6G>A rs201525743
NM_000152.5(GAA):c.2647-6G>T rs201525743
NM_000152.5(GAA):c.2647-7G>A rs192679574
NM_000152.5(GAA):c.2647-8C>G
NM_000152.5(GAA):c.2647-8C>T rs139201641
NM_000152.5(GAA):c.264C>T (p.Ser88=)
NM_000152.5(GAA):c.2652G>A (p.Thr884=) rs143642048
NM_000152.5(GAA):c.2655C>T (p.Ile885=) rs774840779
NM_000152.5(GAA):c.265C>T (p.Arg89Cys) rs534192892
NM_000152.5(GAA):c.2662G>T (p.Glu888Ter) rs765718882
NM_000152.5(GAA):c.2665C>T (p.Leu889=)
NM_000152.5(GAA):c.2668G>C (p.Val890Leu) rs377286472
NM_000152.5(GAA):c.266G>A (p.Arg89His) rs200586324
NM_000152.5(GAA):c.2671C>T (p.Arg891Cys) rs377249041
NM_000152.5(GAA):c.2672G>A (p.Arg891His) rs199524847
NM_000152.5(GAA):c.2672G>T (p.Arg891Leu) rs199524847
NM_000152.5(GAA):c.268T>A (p.Phe90Ile)
NM_000152.5(GAA):c.2697G>T (p.Leu899=)
NM_000152.5(GAA):c.26C>T (p.Ser9Phe)
NM_000152.5(GAA):c.2700G>A (p.Gln900=)
NM_000152.5(GAA):c.2706del (p.Lys903fs) rs1428358278
NM_000152.5(GAA):c.2707_2709del (p.Lys903del) rs121907939
NM_000152.5(GAA):c.270C>T (p.Phe90=) rs768078324
NM_000152.5(GAA):c.2712G>A (p.Val904=) rs886043848
NM_000152.5(GAA):c.271G>A (p.Asp91Asn) rs1800299
NM_000152.5(GAA):c.2721G>A (p.Leu907=)
NM_000152.5(GAA):c.2722G>T (p.Gly908Cys)
NM_000152.5(GAA):c.2725G>A (p.Val909Met) rs138407065
NM_000152.5(GAA):c.2732C>T (p.Thr911Met) rs1027032995
NM_000152.5(GAA):c.2736G>A (p.Ala912=) rs142472738
NM_000152.5(GAA):c.2739C>G (p.Pro913=) rs370765733
NM_000152.5(GAA):c.2739C>T (p.Pro913=) rs370765733
NM_000152.5(GAA):c.2740C>T (p.Gln914Ter) rs1555603264
NM_000152.5(GAA):c.2745G>C (p.Gln915His)
NM_000152.5(GAA):c.2751C>T (p.Leu917=) rs146507838
NM_000152.5(GAA):c.2754C>A (p.Ser918=) rs1598594382
NM_000152.5(GAA):c.2757C>T (p.Asn919=) rs766916186
NM_000152.5(GAA):c.2758G>A (p.Gly920Ser) rs375021198
NM_000152.5(GAA):c.2761G>T (p.Val921Phe) rs1555603286
NM_000152.5(GAA):c.2769C>A (p.Val923=) rs1272166322
NM_000152.5(GAA):c.2769C>T (p.Val923=)
NM_000152.5(GAA):c.276C>A (p.Cys92Ter) rs1232001857
NM_000152.5(GAA):c.276C>T (p.Cys92=)
NM_000152.5(GAA):c.2772C>T (p.Ser924=)
NM_000152.5(GAA):c.2776T>C (p.Phe926Leu) rs1555603301
NM_000152.5(GAA):c.277G>A (p.Ala93Thr) rs142481170
NM_000152.5(GAA):c.2780C>T (p.Thr927Ile) rs1800315
NM_000152.5(GAA):c.2788C>A (p.Pro930Thr) rs1598594483
NM_000152.5(GAA):c.2790C>T (p.Pro930=)
NM_000152.5(GAA):c.2791G>A (p.Asp931Asn)
NM_000152.5(GAA):c.2793C>T (p.Asp931=)
NM_000152.5(GAA):c.2799+10C>G rs1482012226
NM_000152.5(GAA):c.2799+2C>T rs1555603318
NM_000152.5(GAA):c.2800-10T>C
NM_000152.5(GAA):c.2800-9C>G rs886053547
NM_000152.5(GAA):c.280C>A (p.Pro94Thr)
NM_000152.5(GAA):c.2815_2816del (p.Val939fs) rs763359208
NM_000152.5(GAA):c.2819C>T (p.Ser940Leu)
NM_000152.5(GAA):c.2819_2820insAG (p.Leu941fs)
NM_000152.5(GAA):c.281_282del (p.Pro94fs) rs1057516503
NM_000152.5(GAA):c.2820G>A (p.Ser940=) rs992579033
NM_000152.5(GAA):c.2829G>A (p.Met943Ile)
NM_000152.5(GAA):c.282del (p.Asp95fs)
NM_000152.5(GAA):c.2833G>C (p.Glu945Gln) rs1034101189
NM_000152.5(GAA):c.2842C>T (p.Leu948Phe) rs769312350
NM_000152.5(GAA):c.2845G>A (p.Val949Ile) rs183458422
NM_000152.5(GAA):c.286A>G (p.Lys96Glu) rs778816809
NM_000152.5(GAA):c.292A>T (p.Ile98Phe)
NM_000152.5(GAA):c.297C>T (p.Thr99=) rs771846178
NM_000152.5(GAA):c.300G>A (p.Gln100=)
NM_000152.5(GAA):c.303A>G (p.Glu101=)
NM_000152.5(GAA):c.307T>G (p.Cys103Gly) rs398123174
NM_000152.5(GAA):c.309C>T (p.Cys103=) rs373307393
NM_000152.5(GAA):c.310G>A (p.Glu104Lys) rs201902338
NM_000152.5(GAA):c.310G>C (p.Glu104Gln)
NM_000152.5(GAA):c.311_313del (p.Glu104del)
NM_000152.5(GAA):c.314C>T (p.Ala105Val)
NM_000152.5(GAA):c.316C>G (p.Arg106Gly)
NM_000152.5(GAA):c.316C>T (p.Arg106Cys)
NM_000152.5(GAA):c.317G>A (p.Arg106His) rs772534106
NM_000152.5(GAA):c.318C>T (p.Arg106=) rs762542246
NM_000152.5(GAA):c.319G>A (p.Gly107Ser) rs151323405
NM_000152.5(GAA):c.31C>G (p.Arg11Gly) rs772394815
NM_000152.5(GAA):c.31C>T (p.Arg11Trp) rs772394815
NM_000152.5(GAA):c.322T>A (p.Cys108Ser)
NM_000152.5(GAA):c.324T>C (p.Cys108=) rs1800300
NM_000152.5(GAA):c.328T>C (p.Tyr110His)
NM_000152.5(GAA):c.32G>A (p.Arg11Gln) rs138812846
NM_000152.5(GAA):c.32G>T (p.Arg11Leu)
NM_000152.5(GAA):c.340_341insT (p.Lys114fs)
NM_000152.5(GAA):c.342del (p.Lys114fs) rs1555598796
NM_000152.5(GAA):c.347G>C (p.Gly116Ala) rs754285414
NM_000152.5(GAA):c.347G>T (p.Gly116Val) rs754285414
NM_000152.5(GAA):c.351G>A (p.Leu117=) rs574947353
NM_000152.5(GAA):c.355G>A (p.Gly119Arg) rs1555598802
NM_000152.5(GAA):c.359C>G (p.Ala120Gly) rs779208773
NM_000152.5(GAA):c.362A>G (p.Gln121Arg) rs150284874
NM_000152.5(GAA):c.364A>G (p.Met122Val)
NM_000152.5(GAA):c.365del (p.Met122fs) rs786204661
NM_000152.5(GAA):c.368G>A (p.Gly123Glu) rs138034915
NM_000152.5(GAA):c.368G>T (p.Gly123Val)
NM_000152.5(GAA):c.36C>T (p.Leu12=) rs200548806
NM_000152.5(GAA):c.370C>G (p.Gln124Glu) rs1291571294
NM_000152.5(GAA):c.378G>A (p.Trp126Ter)
NM_000152.5(GAA):c.383T>C (p.Phe128Ser)
NM_000152.5(GAA):c.393C>G (p.Pro131=) rs769276948
NM_000152.5(GAA):c.395G>C (p.Ser132Thr) rs772908626
NM_000152.5(GAA):c.408C>T (p.Tyr136=)
NM_000152.5(GAA):c.412C>G (p.Leu138Val) rs761221259
NM_000152.5(GAA):c.420C>A (p.Asn140Lys)
NM_000152.5(GAA):c.423G>T (p.Leu141=)
NM_000152.5(GAA):c.425G>A (p.Ser142Asn) rs754195673
NM_000152.5(GAA):c.426C>A (p.Ser142Arg)
NM_000152.5(GAA):c.42C>G (p.Ala14=) rs141377453
NM_000152.5(GAA):c.42C>T (p.Ala14=)
NM_000152.5(GAA):c.43G>A (p.Val15Ile) rs772157487
NM_000152.5(GAA):c.444C>T (p.Tyr148=) rs886043112
NM_000152.5(GAA):c.446C>T (p.Thr149Met)
NM_000152.5(GAA):c.447G>A (p.Thr149=) rs2289536
NM_000152.5(GAA):c.448G>A (p.Ala150Thr) rs991177340
NM_000152.5(GAA):c.452C>T (p.Thr151Ile) rs1567826289
NM_000152.5(GAA):c.456G>C (p.Leu152=)
NM_000152.5(GAA):c.460_465del (p.Arg154_Thr155del) rs1555598888
NM_000152.5(GAA):c.461G>A (p.Arg154His)
NM_000152.5(GAA):c.466A>T (p.Thr156Ser)
NM_000152.5(GAA):c.471C>T (p.Pro157=)
NM_000152.5(GAA):c.471del (p.Thr158fs) rs1057517320
NM_000152.5(GAA):c.482_483del (p.Pro161fs) rs764750389
NM_000152.5(GAA):c.487G>A (p.Asp163Asn) rs1204103099
NM_000152.5(GAA):c.488A>T (p.Asp163Val)
NM_000152.5(GAA):c.49G>A (p.Ala17Thr) rs751425831
NM_000152.5(GAA):c.502C>T (p.Arg168Trp)
NM_000152.5(GAA):c.503G>A (p.Arg168Gln) rs376685205
NM_000152.5(GAA):c.503G>C (p.Arg168Pro) rs376685205
NM_000152.5(GAA):c.510C>T (p.Asp170=) rs564758226
NM_000152.5(GAA):c.511G>A (p.Val171Met) rs886053543
NM_000152.5(GAA):c.514A>G (p.Met172Val) rs1307823755
NM_000152.5(GAA):c.525T>C (p.Thr175=)
NM_000152.5(GAA):c.525del (p.Glu176fs) rs386834235
NM_000152.5(GAA):c.530A>C (p.Asn177Thr)
NM_000152.5(GAA):c.531C>T (p.Asn177=) rs886053544
NM_000152.5(GAA):c.532C>T (p.Arg178Cys) rs762439362
NM_000152.5(GAA):c.533G>A (p.Arg178His) rs762267535
NM_000152.5(GAA):c.539A>G (p.His180Arg)
NM_000152.5(GAA):c.543C>T (p.Phe181=)
NM_000152.5(GAA):c.545C>G (p.Thr182Arg) rs200524747
NM_000152.5(GAA):c.546+18G>A rs190153982
NM_000152.5(GAA):c.546+2_546+6dup
NM_000152.5(GAA):c.546+3G>A rs371405931
NM_000152.5(GAA):c.546+4G>C
NM_000152.5(GAA):c.546+5G>T rs756024023
NM_000152.5(GAA):c.546+6C>T rs375727055
NM_000152.5(GAA):c.546+7A>C rs1329049814
NM_000152.5(GAA):c.546+8G>A rs200107080
NM_000152.5(GAA):c.546G>A (p.Thr182=) rs143523371
NM_000152.5(GAA):c.546G>C (p.Thr182=) rs143523371
NM_000152.5(GAA):c.547-39T>G rs12452721
NM_000152.5(GAA):c.547-4C>G rs3816256
NM_000152.5(GAA):c.547-67C>G
NM_000152.5(GAA):c.55G>A (p.Val19Met) rs200343198
NM_000152.5(GAA):c.566G>A (p.Arg189Lys) rs1598571878
NM_000152.5(GAA):c.568C>T (p.Arg190Cys) rs771258854
NM_000152.5(GAA):c.569G>A (p.Arg190His) rs528367092
NM_000152.5(GAA):c.569G>T (p.Arg190Leu)
NM_000152.5(GAA):c.573C>A (p.Tyr191Ter) rs376229714
NM_000152.5(GAA):c.573C>T (p.Tyr191=) rs376229714
NM_000152.5(GAA):c.574G>A (p.Glu192Lys)
NM_000152.5(GAA):c.576G>C (p.Glu192Asp) rs760655446
NM_000152.5(GAA):c.583T>C (p.Leu195=)
NM_000152.5(GAA):c.590C>T (p.Thr197Ile)
NM_000152.5(GAA):c.594G>A (p.Pro198=)
NM_000152.5(GAA):c.596A>G (p.His199Arg) rs1042393
NM_000152.5(GAA):c.600C>T (p.Val200=) rs150895924
NM_000152.5(GAA):c.603C>T (p.His201=)
NM_000152.5(GAA):c.607C>T (p.Arg203Trp) rs751286274
NM_000152.5(GAA):c.608G>A (p.Arg203Gln)
NM_000152.5(GAA):c.610G>A (p.Ala204Thr)
NM_000152.5(GAA):c.614C>T (p.Pro205Leu) rs775065551
NM_000152.5(GAA):c.615G>A (p.Pro205=) rs141427808
NM_000152.5(GAA):c.618C>G (p.Ser206=)
NM_000152.5(GAA):c.618C>T (p.Ser206=) rs146292898
NM_000152.5(GAA):c.621A>G (p.Pro207=)
NM_000152.5(GAA):c.624C>G (p.Leu208=)
NM_000152.5(GAA):c.625T>C (p.Tyr209His) rs930808379
NM_000152.5(GAA):c.627C>T (p.Tyr209=)
NM_000152.5(GAA):c.630C>T (p.Ser210=)
NM_000152.5(GAA):c.631G>A (p.Val211Met) rs760995790
NM_000152.5(GAA):c.634G>A (p.Glu212Lys) rs768596085
NM_000152.5(GAA):c.642C>T (p.Ser214=) rs1800301
NM_000152.5(GAA):c.643G>A (p.Glu215Lys) rs201286896
NM_000152.5(GAA):c.643G>T (p.Glu215Ter)
NM_000152.5(GAA):c.649C>T (p.Pro217Ser) rs1567827215
NM_000152.5(GAA):c.654C>T (p.Phe218=) rs762830719
NM_000152.5(GAA):c.655G>A (p.Gly219Arg) rs370950728
NM_000152.5(GAA):c.658G>T (p.Val220Leu) rs530478036
NM_000152.5(GAA):c.663C>A (p.Ile221=)
NM_000152.5(GAA):c.663C>G (p.Ile221Met) rs142878958
NM_000152.5(GAA):c.663C>T (p.Ile221=) rs142878958
NM_000152.5(GAA):c.664G>A (p.Val222Met) rs374569672
NM_000152.5(GAA):c.667_668delinsTA (p.Arg223Tyr)
NM_000152.5(GAA):c.668G>A (p.Arg223His) rs1042395
NM_000152.5(GAA):c.670C>T (p.Arg224Trp) rs757700700
NM_000152.5(GAA):c.671G>A (p.Arg224Gln) rs200210219
NM_000152.5(GAA):c.676C>G (p.Leu226Val) rs113085339
NM_000152.5(GAA):c.67A>G (p.Thr23Ala) rs2289537
NM_000152.5(GAA):c.681C>T (p.Asp227=)
NM_000152.5(GAA):c.682G>A (p.Gly228Ser) rs747150907
NM_000152.5(GAA):c.683G>A (p.Gly228Asp)
NM_000152.5(GAA):c.683dup (p.Arg229fs)
NM_000152.5(GAA):c.685C>T (p.Arg229Cys) rs375295347
NM_000152.5(GAA):c.686G>A (p.Arg229His) rs776509432
NM_000152.5(GAA):c.686G>C (p.Arg229Pro) rs776509432
NM_000152.5(GAA):c.687C>T (p.Arg229=) rs149814041
NM_000152.5(GAA):c.688G>A (p.Val230Met) rs145866792
NM_000152.5(GAA):c.68C>T (p.Thr23Ile)
NM_000152.5(GAA):c.692+5G>T rs763027848
NM_000152.5(GAA):c.692+9T>C rs367661167
NM_000152.5(GAA):c.693-10T>C
NM_000152.5(GAA):c.693-4G>A rs200088236
NM_000152.5(GAA):c.693-4G>T rs200088236
NM_000152.5(GAA):c.693-5C>T rs763538104
NM_000152.5(GAA):c.693-5del rs1555599563
NM_000152.5(GAA):c.69C>T (p.Thr23=) rs746351336
NM_000152.5(GAA):c.702G>A (p.Thr234=) rs755337511
NM_000152.5(GAA):c.704C>T (p.Thr235Met) rs752950890
NM_000152.5(GAA):c.705G>A (p.Thr235=) rs2304846
NM_000152.5(GAA):c.706G>T (p.Val236Leu)
NM_000152.5(GAA):c.708G>A (p.Val236=)
NM_000152.5(GAA):c.708G>T (p.Val236=)
NM_000152.5(GAA):c.70G>A (p.Ala24Thr) rs139716763
NM_000152.5(GAA):c.711G>A (p.Ala237=) rs368328598
NM_000152.5(GAA):c.715C>T (p.Leu239=) rs778882374
NM_000152.5(GAA):c.716del (p.Leu239fs) rs1555599594
NM_000152.5(GAA):c.723T>G (p.Phe241Leu)
NM_000152.5(GAA):c.725C>A (p.Ala242Glu) rs745861849
NM_000152.5(GAA):c.725C>T (p.Ala242Val) rs745861849
NM_000152.5(GAA):c.726G>A (p.Ala242=) rs148578399
NM_000152.5(GAA):c.726G>C (p.Ala242=)
NM_000152.5(GAA):c.72T>C (p.Ala24=)
NM_000152.5(GAA):c.732G>C (p.Gln244His)
NM_000152.5(GAA):c.736del (p.Leu246fs) rs886043920
NM_000152.5(GAA):c.737T>G (p.Leu246Arg) rs1555599608
NM_000152.5(GAA):c.745T>C (p.Ser249Pro) rs1386718298
NM_000152.5(GAA):c.747C>T (p.Ser249=) rs1555599614
NM_000152.5(GAA):c.750C>T (p.Thr250=)
NM_000152.5(GAA):c.752C>T (p.Ser251Leu) rs200856561
NM_000152.5(GAA):c.753G>A (p.Ser251=)
NM_000152.5(GAA):c.753G>T (p.Ser251=)
NM_000152.5(GAA):c.754C>T (p.Leu252=) rs1598575013
NM_000152.5(GAA):c.758C>G (p.Pro253Arg) rs1169157671
NM_000152.5(GAA):c.759_763del (p.Ser254fs)
NM_000152.5(GAA):c.759del (p.Ser254fs)
NM_000152.5(GAA):c.75A>G (p.Ala25=)
NM_000152.5(GAA):c.761C>T (p.Ser254Leu) rs577915581
NM_000152.5(GAA):c.762G>A (p.Ser254=) rs533960093
NM_000152.5(GAA):c.765G>A (p.Gln255=) rs1450999199
NM_000152.5(GAA):c.766_784del (p.Tyr256fs)
NM_000152.5(GAA):c.766_785delinsC (p.Tyr256fs) rs786204532
NM_000152.5(GAA):c.767A>G (p.Tyr256Cys)
NM_000152.5(GAA):c.769A>G (p.Ile257Val)
NM_000152.5(GAA):c.76C>T (p.Leu26Phe) rs149761650
NM_000152.5(GAA):c.77T>G (p.Leu26Arg) rs1385098269
NM_000152.5(GAA):c.780C>T (p.Leu260=) rs372614893
NM_000152.5(GAA):c.781G>A (p.Ala261Thr) rs543360994
NM_000152.5(GAA):c.783C>A (p.Ala261=)
NM_000152.5(GAA):c.783C>T (p.Ala261=) rs757356178
NM_000152.5(GAA):c.784G>A (p.Glu262Lys) rs201896815
NM_000152.5(GAA):c.787C>T (p.His263Tyr) rs1555599660
NM_000152.5(GAA):c.78C>T (p.Leu26=)
NM_000152.5(GAA):c.792C>G (p.Leu264=)
NM_000152.5(GAA):c.794G>A (p.Ser265Asn) rs772002851
NM_000152.5(GAA):c.796C>T (p.Pro266Ser) rs1555599667
NM_000152.5(GAA):c.797C>T (p.Pro266Leu) rs1567828977
NM_000152.5(GAA):c.798C>G (p.Pro266=) rs1598575210
NM_000152.5(GAA):c.799_803delinsA (p.Leu267fs)
NM_000152.5(GAA):c.806_830del (p.Leu269fs) rs1598575231
NM_000152.5(GAA):c.816C>T (p.Ser272=)
NM_000152.5(GAA):c.830C>T (p.Thr277Ile) rs1598575278
NM_000152.5(GAA):c.834G>A (p.Leu278=) rs776314424
NM_000152.5(GAA):c.840_842dup (p.Arg281dup)
NM_000152.5(GAA):c.841C>T (p.Arg281Trp) rs142967546
NM_000152.5(GAA):c.842G>A (p.Arg281Gln)
NM_000152.5(GAA):c.843G>A (p.Arg281=)
NM_000152.5(GAA):c.849T>C (p.Leu283=)
NM_000152.5(GAA):c.84G>A (p.Gly28=)
NM_000152.5(GAA):c.851C>G (p.Ala284Gly) rs147569830
NM_000152.5(GAA):c.851C>T (p.Ala284Val) rs147569830
NM_000152.5(GAA):c.852G>A (p.Ala284=) rs142626724
NM_000152.5(GAA):c.853C>T (p.Pro285Ser) rs886042086
NM_000152.5(GAA):c.854C>G (p.Pro285Arg) rs764622267
NM_000152.5(GAA):c.855C>A (p.Pro285=) rs754080080
NM_000152.5(GAA):c.857C>T (p.Thr286Met)
NM_000152.5(GAA):c.858+10C>A rs758283022
NM_000152.5(GAA):c.858+10C>T rs758283022
NM_000152.5(GAA):c.858+4C>G rs886042706
NM_000152.5(GAA):c.858+6GCGGCGG[3] rs1555599723
NM_000152.5(GAA):c.858+7_858+8insACCGGGC
NM_000152.5(GAA):c.858+7_858+8insAGCAGGC rs3071247
NM_000152.5(GAA):c.858+7_858+8insAGCGGGC rs3071247
NM_000152.5(GAA):c.858+7_858+8insAGCGGGCGGCGGGC rs3071247
NM_000152.5(GAA):c.858+7_858+8insAGTGGGC rs3071247
NM_000152.5(GAA):c.858+8G>A rs5822325
NM_000152.5(GAA):c.858G>A (p.Thr286=) rs201056962
NM_000152.5(GAA):c.859-3C>T rs1356743231
NM_000152.5(GAA):c.859-4C>T
NM_000152.5(GAA):c.859-5C>T
NM_000152.5(GAA):c.859-9A>G
NM_000152.5(GAA):c.859C>T (p.Pro287Ser) rs369735511
NM_000152.5(GAA):c.861C>T (p.Pro287=) rs778580823
NM_000152.5(GAA):c.862G>A (p.Gly288Ser) rs200125735
NM_000152.5(GAA):c.863G>A (p.Gly288Asp) rs769074720
NM_000152.5(GAA):c.866C>T (p.Ala289Val) rs145903608
NM_000152.5(GAA):c.867G>A (p.Ala289=) rs534515557
NM_000152.5(GAA):c.868A>G (p.Asn290Asp) rs552929702
NM_000152.5(GAA):c.871C>T (p.Leu291Phe)
NM_000152.5(GAA):c.875A>G (p.Tyr292Cys) rs1057516600
NM_000152.5(GAA):c.876C>T (p.Tyr292=) rs763216519
NM_000152.5(GAA):c.877G>A (p.Gly293Arg) rs121907945
NM_000152.5(GAA):c.879G>A (p.Gly293=)
NM_000152.5(GAA):c.883C>A (p.His295Asn)
NM_000152.5(GAA):c.896T>G (p.Leu299Arg) rs121907940
NM_000152.5(GAA):c.899C>T (p.Ala300Val)
NM_000152.5(GAA):c.8T>C (p.Val3Ala)
NM_000152.5(GAA):c.900G>A (p.Ala300=) rs759425304
NM_000152.5(GAA):c.906G>A (p.Glu302=) rs1488323868
NM_000152.5(GAA):c.909C>T (p.Asp303=) rs752724918
NM_000152.5(GAA):c.910G>A (p.Gly304Ser) rs140301384
NM_000152.5(GAA):c.912C>T (p.Gly304=)
NM_000152.5(GAA):c.913G>A (p.Gly305Arg) rs200154987
NM_000152.5(GAA):c.915G>A (p.Gly305=) rs150343359
NM_000152.5(GAA):c.917C>T (p.Ser306Leu) rs138097673
NM_000152.5(GAA):c.918G>A (p.Ser306=) rs373276219
NM_000152.5(GAA):c.91C>T (p.Leu31=)
NM_000152.5(GAA):c.921A>C (p.Ala307=)
NM_000152.5(GAA):c.921A>T (p.Ala307=) rs1800303
NM_000152.5(GAA):c.922C>T (p.His308Tyr) rs112025212
NM_000152.5(GAA):c.924C>A (p.His308Gln) rs370105640
NM_000152.5(GAA):c.924C>T (p.His308=) rs370105640
NM_000152.5(GAA):c.925G>A (p.Gly309Arg) rs543300039
NM_000152.5(GAA):c.928G>T (p.Val310Leu)
NM_000152.5(GAA):c.93_95del (p.Leu32del) rs1278892703
NM_000152.5(GAA):c.942C>T (p.Asn314=)
NM_000152.5(GAA):c.952A>T (p.Met318Leu) rs886044506
NM_000152.5(GAA):c.953T>A (p.Met318Lys) rs121907936
NM_000152.5(GAA):c.953T>C (p.Met318Thr) rs121907936
NM_000152.5(GAA):c.955+12G>A rs2252455
NM_000152.5(GAA):c.955+5G>A
NM_000152.5(GAA):c.955+5G>C
NM_000152.5(GAA):c.955G>A (p.Asp319Asn)
NM_000152.5(GAA):c.956-3C>T
NM_000152.5(GAA):c.956-8C>A
NM_000152.5(GAA):c.966G>A (p.Leu322=) rs1197362128
NM_000152.5(GAA):c.969G>T (p.Gln323His) rs1266693289
NM_000152.5(GAA):c.96C>G (p.Leu32=) rs1598569164
NM_000152.5(GAA):c.972G>A (p.Pro324=) rs763445243
NM_000152.5(GAA):c.972G>C (p.Pro324=)
NM_000152.5(GAA):c.979G>A (p.Ala327Thr)
NM_000152.5(GAA):c.982C>T (p.Leu328Phe) rs1555599956
NM_000152.5(GAA):c.989G>A (p.Trp330Ter) rs1555599960
NM_000152.5(GAA):c.993G>A (p.Arg331=) rs749831587
NM_000152.5(GAA):c.996G>A (p.Ser332=)
NM_000152.5(GAA):c.999A>G (p.Thr333=) rs1598576668
NM_000154.2(GALK1):c.-22T>C rs545362817
NM_000154.2(GALK1):c.1005G>T (p.Val335=)
NM_000154.2(GALK1):c.1011G>C (p.Gly337=)
NM_000154.2(GALK1):c.1025G>A (p.Arg342His)
NM_000154.2(GALK1):c.1035C>T (p.Gly345=) rs576223041
NM_000154.2(GALK1):c.1036G>A (p.Gly346Ser) rs375690568
NM_000154.2(GALK1):c.1044C>T (p.Phe348=) rs372653001
NM_000154.2(GALK1):c.1057G>A (p.Val353Met)
NM_000154.2(GALK1):c.105G>C (p.Pro35=)
NM_000154.2(GALK1):c.1077C>T (p.Ser359=) rs376050836
NM_000154.2(GALK1):c.1083_1096delinsATG (p.Pro362fs)
NM_000154.2(GALK1):c.1089C>T (p.His363=) rs200502537
NM_000154.2(GALK1):c.1096C>T (p.Arg366Trp) rs536478616
NM_000154.2(GALK1):c.10T>C (p.Leu4=)
NM_000154.2(GALK1):c.1101C>T (p.His367=) rs1436958552
NM_000154.2(GALK1):c.1107+5G>A rs201663491
NM_000154.2(GALK1):c.1107+7G>A
NM_000154.2(GALK1):c.1107+9G>A
NM_000154.2(GALK1):c.1116C>T (p.Tyr372=) rs763195503
NM_000154.2(GALK1):c.1119C>T (p.Gly373=) rs73997615
NM_000154.2(GALK1):c.1131C>T (p.Thr377=)
NM_000154.2(GALK1):c.1152C>T (p.Ala384=)
NM_000154.2(GALK1):c.1155T>C (p.Asp385=)
NM_000154.2(GALK1):c.1167G>A (p.Val389=) rs150586960
NM_000154.2(GALK1):c.116A>C (p.Asn39Thr)
NM_000154.2(GALK1):c.117C>T (p.Asn39=) rs1599336904
NM_000154.2(GALK1):c.147G>A (p.Gln49=)
NM_000154.2(GALK1):c.150C>T (p.Gly50=) rs1599336859
NM_000154.2(GALK1):c.153G>T (p.Leu51=)
NM_000154.2(GALK1):c.157C>T (p.Leu53=)
NM_000154.2(GALK1):c.163A>G (p.Met55Val)
NM_000154.2(GALK1):c.166-10C>T
NM_000154.2(GALK1):c.166-6dup
NM_000154.2(GALK1):c.171G>A (p.Leu57=) rs779604073
NM_000154.2(GALK1):c.187C>T (p.Leu63=) rs1555748724
NM_000154.2(GALK1):c.189G>A (p.Leu63=) rs7211385
NM_000154.2(GALK1):c.195C>T (p.Gly65=) rs1301639431
NM_000154.2(GALK1):c.216G>A (p.Leu72=)
NM_000154.2(GALK1):c.231C>A (p.Thr77=)
NM_000154.2(GALK1):c.255C>T (p.Pro85=)
NM_000154.2(GALK1):c.260G>A (p.Arg87Gln)
NM_000154.2(GALK1):c.273A>G (p.Pro91=)
NM_000154.2(GALK1):c.291C>G (p.Arg97=) rs368542855
NM_000154.2(GALK1):c.294G>T (p.Ser98=) rs766656571
NM_000154.2(GALK1):c.297G>A (p.Leu99=)
NM_000154.2(GALK1):c.298G>T (p.Glu100Ter)
NM_000154.2(GALK1):c.300G>A (p.Glu100=)
NM_000154.2(GALK1):c.30G>T (p.Ala10=) rs1174194549
NM_000154.2(GALK1):c.336A>G (p.Gly112=)
NM_000154.2(GALK1):c.345G>A (p.Gln115=)
NM_000154.2(GALK1):c.351C>T (p.Tyr117=)
NM_000154.2(GALK1):c.363C>A (p.Pro121=) rs779234943
NM_000154.2(GALK1):c.369T>C (p.Pro123=)
NM_000154.2(GALK1):c.372C>A (p.Gly124=)
NM_000154.2(GALK1):c.396A>C (p.Ser132=) rs766401384
NM_000154.2(GALK1):c.408G>A (p.Gly136=)
NM_000154.2(GALK1):c.410del (p.Gly137fs) rs767329054
NM_000154.2(GALK1):c.410dup (p.Gly138fs) rs767329054
NM_000154.2(GALK1):c.417G>A (p.Leu139=)
NM_000154.2(GALK1):c.417G>C (p.Leu139=)
NM_000154.2(GALK1):c.42C>T (p.Ala14=)
NM_000154.2(GALK1):c.432C>T (p.Ser144=) rs150323432
NM_000154.2(GALK1):c.441G>A (p.Val147=)
NM_000154.2(GALK1):c.447G>A (p.Thr149=) rs765744088
NM_000154.2(GALK1):c.475+7G>C
NM_000154.2(GALK1):c.489A>T (p.Ile163=)
NM_000154.2(GALK1):c.495C>T (p.Ala165=)
NM_000154.2(GALK1):c.498C>T (p.Arg166=)
NM_000154.2(GALK1):c.510T>A (p.Cys170Ter)
NM_000154.2(GALK1):c.519C>G (p.Ala173=) rs141983398
NM_000154.2(GALK1):c.519C>T (p.Ala173=)
NM_000154.2(GALK1):c.530del (p.Phe177fs)
NM_000154.2(GALK1):c.531C>T (p.Phe177=)
NM_000154.2(GALK1):c.537G>A (p.Gly179=)
NM_000154.2(GALK1):c.573T>C (p.Leu191=)
NM_000154.2(GALK1):c.587G>A (p.Gly196Asp)
NM_000154.2(GALK1):c.591C>T (p.His197=)
NM_000154.2(GALK1):c.593C>T (p.Ala198Val) rs80084721
NM_000154.2(GALK1):c.594G>A (p.Ala198=)
NM_000154.2(GALK1):c.594G>C (p.Ala198=)
NM_000154.2(GALK1):c.60C>T (p.Phe20=) rs556192480
NM_000154.2(GALK1):c.611+1G>T
NM_000154.2(GALK1):c.611+9C>T rs370204015
NM_000154.2(GALK1):c.612-4C>G
NM_000154.2(GALK1):c.645C>T (p.Asp215=)
NM_000154.2(GALK1):c.654G>A (p.Leu218=)
NM_000154.2(GALK1):c.657C>T (p.Ala219=) rs754593748
NM_000154.2(GALK1):c.660G>A (p.Val220=)
NM_000154.2(GALK1):c.660G>C (p.Val220=)
NM_000154.2(GALK1):c.663C>T (p.Leu221=)
NM_000154.2(GALK1):c.66G>A (p.Glu22=) rs367558510
NM_000154.2(GALK1):c.67G>T (p.Glu23Ter)
NM_000154.2(GALK1):c.710del (p.Pro237fs)
NM_000154.2(GALK1):c.746C>T (p.Ala249Val) rs149825190
NM_000154.2(GALK1):c.747G>A (p.Ala249=) rs140053358
NM_000154.2(GALK1):c.748C>T (p.Leu250=) rs904702679
NM_000154.2(GALK1):c.765C>T (p.Leu255=)
NM_000154.2(GALK1):c.766C>T (p.Arg256Trp) rs376790302
NM_000154.2(GALK1):c.771G>A (p.Glu257=) rs764099539
NM_000154.2(GALK1):c.780G>A (p.Leu260=)
NM_000154.2(GALK1):c.787C>T (p.Leu263=) rs886053420
NM_000154.2(GALK1):c.794-6C>T
NM_000154.2(GALK1):c.81G>A (p.Glu27=)
NM_000154.2(GALK1):c.829C>A (p.Arg277=)
NM_000154.2(GALK1):c.82C>A (p.Pro28Thr) rs104894572
NM_000154.2(GALK1):c.82C>T (p.Pro28Ser)
NM_000154.2(GALK1):c.840C>T (p.His280=) rs375779311
NM_000154.2(GALK1):c.853_874del (p.Ile285fs) rs770087254
NM_000154.2(GALK1):c.857G>A (p.Arg286Gln) rs145641205
NM_000154.2(GALK1):c.858G>A (p.Arg286=) rs1349483506
NM_000154.2(GALK1):c.864G>A (p.Thr288=)
NM_000154.2(GALK1):c.864G>C (p.Thr288=) rs201247556
NM_000154.2(GALK1):c.876G>A (p.Ala292=)
NM_000154.2(GALK1):c.900C>T (p.Tyr300=)
NM_000154.2(GALK1):c.909T>C (p.Phe303=)
NM_000154.2(GALK1):c.915C>T (p.Arg305=)
NM_000154.2(GALK1):c.919A>C (p.Met307Leu)
NM_000154.2(GALK1):c.928A>G (p.Ser310Gly)
NM_000154.2(GALK1):c.934C>T (p.Arg312Cys) rs201972845
NM_000154.2(GALK1):c.935G>A (p.Arg312His) rs181526665
NM_000154.2(GALK1):c.93C>G (p.Ala31=)
NM_000154.2(GALK1):c.93C>T (p.Ala31=)
NM_000154.2(GALK1):c.945-4G>A
NM_000154.2(GALK1):c.948C>T (p.Asp316=) rs370706611
NM_000154.2(GALK1):c.94G>A (p.Val32Met) rs104894576
NM_000154.2(GALK1):c.957G>A (p.Glu319=) rs76160162
NM_000154.2(GALK1):c.966C>T (p.Cys322=)
NM_000154.2(GALK1):c.975G>A (p.Leu325=) rs1247403138
NM_000154.2(GALK1):c.975G>T (p.Leu325=) rs1247403138
NM_000154.2(GALK1):c.982C>T (p.Leu328=)
NM_000154.2(GALK1):c.987G>A (p.Val329=) rs184160171
NM_000155.2(GALT):c.-119_-116delGTCA rs111033640
NM_000155.3(GALT):c.790_792invCTA (p.Leu264Ter)
NM_000155.4(GALT):c.1008G>A (p.Met336Ile)
NM_000155.4(GALT):c.100T>A (p.Tyr34Asn) rs111033836
NM_000155.4(GALT):c.1014C>G (p.Gly338=) rs111033811
NM_000155.4(GALT):c.1017C>T (p.Tyr339=)
NM_000155.4(GALT):c.1018G>A (p.Glu340Lys) rs111033806
NM_000155.4(GALT):c.1024C>A (p.Leu342Ile) rs111033812
NM_000155.4(GALT):c.1030C>A (p.Gln344Lys) rs111033814
NM_000155.4(GALT):c.1030C>T (p.Gln344Ter)
NM_000155.4(GALT):c.1038G>A (p.Gln346=)
NM_000155.4(GALT):c.1048del (p.Thr350fs) rs775762045
NM_000155.4(GALT):c.1055A>G (p.Glu352Gly)
NM_000155.4(GALT):c.1059+7A>C
NM_000155.4(GALT):c.1059+8C>T
NM_000155.4(GALT):c.1060-10C>T
NM_000155.4(GALT):c.1071A>G (p.Arg357=) rs1587241773
NM_000155.4(GALT):c.1077G>A (p.Arg359=) rs148967210
NM_000155.4(GALT):c.1080A>T (p.Ala360=)
NM_000155.4(GALT):c.1085C>T (p.Pro362Leu)
NM_000155.4(GALT):c.1087G>A (p.Glu363Lys) rs367543273
NM_000155.4(GALT):c.108G>A (p.Pro36=)
NM_000155.4(GALT):c.108G>C (p.Pro36=)
NM_000155.4(GALT):c.1095T>C (p.His365=)
NM_000155.4(GALT):c.1102C>T (p.Leu368=)
NM_000155.4(GALT):c.1116C>T (p.Asp372=) rs757314660
NM_000155.4(GALT):c.1128A>G (p.Ala376=)
NM_000155.4(GALT):c.1128A>T (p.Ala376=) rs781374930
NM_000155.4(GALT):c.1132A>G (p.Ile378Val) rs111033819
NM_000155.4(GALT):c.1135G>A (p.Ala379Thr) rs780064274
NM_000155.4(GALT):c.1139G>A (p.Ter380=)
NM_000155.4(GALT):c.153G>A (p.Arg51=)
NM_000155.4(GALT):c.157T>A (p.Trp53Arg) rs1131691837
NM_000155.4(GALT):c.174G>A (p.Glu58=)
NM_000155.4(GALT):c.183T>G (p.Leu61=)
NM_000155.4(GALT):c.18C>T (p.Thr6=)
NM_000155.4(GALT):c.192A>T (p.Thr64=)
NM_000155.4(GALT):c.197C>T (p.Pro66Leu) rs111033656
NM_000155.4(GALT):c.199C>T (p.Arg67Cys) rs111033658
NM_000155.4(GALT):c.1A>G (p.Met1Val) rs111033639
NM_000155.4(GALT):c.200G>A (p.Arg67His) rs758430398
NM_000155.4(GALT):c.210T>G (p.Pro70=)
NM_000155.4(GALT):c.211C>T (p.Leu71Phe)
NM_000155.4(GALT):c.231G>A (p.Gly77=) rs1269693119
NM_000155.4(GALT):c.252+10T>C
NM_000155.4(GALT):c.252+1G>A rs768154316
NM_000155.4(GALT):c.252+9G>A
NM_000155.4(GALT):c.253-2A>G rs111033661
NM_000155.4(GALT):c.253-5G>A rs762136953
NM_000155.4(GALT):c.253-6C>A
NM_000155.4(GALT):c.253-6C>T
NM_000155.4(GALT):c.267C>T (p.Tyr89=) rs145628307
NM_000155.4(GALT):c.270T>C (p.Asp90=)
NM_000155.4(GALT):c.289_291del (p.Asn97del) rs398123179
NM_000155.4(GALT):c.290A>G (p.Asn97Ser) rs111033669
NM_000155.4(GALT):c.291C>T (p.Asn97=) rs398123180
NM_000155.4(GALT):c.292G>A (p.Asp98Asn) rs111033670
NM_000155.4(GALT):c.292G>C (p.Asp98His) rs111033670
NM_000155.4(GALT):c.295T>A (p.Phe99Ile)
NM_000155.4(GALT):c.303T>C (p.Ala101=)
NM_000155.4(GALT):c.324T>C (p.Ser108=)
NM_000155.4(GALT):c.328+33G>A
NM_000155.4(GALT):c.328+7T>C rs774350978
NM_000155.4(GALT):c.329-2A>C rs111033667
NM_000155.4(GALT):c.329-7A>T
NM_000155.4(GALT):c.329-8_329-7dup
NM_000155.4(GALT):c.32G>A (p.Arg11His) rs757632977
NM_000155.4(GALT):c.346C>G (p.Leu116Val)
NM_000155.4(GALT):c.359del (p.Lys120fs)
NM_000155.4(GALT):c.363T>C (p.Ser121=)
NM_000155.4(GALT):c.366T>G (p.Ala122=)
NM_000155.4(GALT):c.367C>G (p.Arg123Gly) rs111033674
NM_000155.4(GALT):c.367C>T (p.Arg123Ter) rs111033674
NM_000155.4(GALT):c.377+8T>C
NM_000155.4(GALT):c.378-12G>A
NM_000155.4(GALT):c.378-2A>G
NM_000155.4(GALT):c.378-4C>T
NM_000155.4(GALT):c.378-7C>T
NM_000155.4(GALT):c.378-9A>G rs371470838
NM_000155.4(GALT):c.379A>G (p.Lys127Glu) rs111033682
NM_000155.4(GALT):c.390C>T (p.Cys130=) rs1410761611
NM_000155.4(GALT):c.396C>A (p.His132Gln) rs367543256
NM_000155.4(GALT):c.396C>T (p.His132=)
NM_000155.4(GALT):c.400del (p.Trp134fs) rs111033689
NM_000155.4(GALT):c.404C>T (p.Ser135Leu) rs111033690
NM_000155.4(GALT):c.405G>A (p.Ser135=) rs141232328
NM_000155.4(GALT):c.413C>T (p.Thr138Met) rs111033686
NM_000155.4(GALT):c.414G>A (p.Thr138=) rs116479817
NM_000155.4(GALT):c.414G>T (p.Thr138=) rs116479817
NM_000155.4(GALT):c.419C>T (p.Pro140Leu)
NM_000155.4(GALT):c.425T>A (p.Met142Lys) rs111033695
NM_000155.4(GALT):c.428C>G (p.Ser143Trp)
NM_000155.4(GALT):c.428C>T (p.Ser143Leu) rs111033697
NM_000155.4(GALT):c.442C>T (p.Arg148Trp) rs111033693
NM_000155.4(GALT):c.443G>A (p.Arg148Gln) rs111033694
NM_000155.4(GALT):c.44C>T (p.Ser15Leu)
NM_000155.4(GALT):c.450T>A (p.Val150=) rs886063884
NM_000155.4(GALT):c.456T>C (p.Asp152=)
NM_000155.4(GALT):c.459A>G (p.Ala153=) rs141498518
NM_000155.4(GALT):c.480G>A (p.Glu160=) rs1587238612
NM_000155.4(GALT):c.498T>C (p.Pro166=) rs193922249
NM_000155.4(GALT):c.502G>T (p.Val168Leu) rs367543258
NM_000155.4(GALT):c.502_504del (p.Val168del)
NM_000155.4(GALT):c.504G>A (p.Val168=)
NM_000155.4(GALT):c.507+9G>A
NM_000155.4(GALT):c.508-17G>A rs12000481
NM_000155.4(GALT):c.508-24G>A rs41274867
NM_000155.4(GALT):c.508-29del rs111033711
NM_000155.4(GALT):c.508-2_509del
NM_000155.4(GALT):c.508-9A>G
NM_000155.4(GALT):c.510C>A (p.Ile170=) rs61735984
NM_000155.4(GALT):c.512T>C (p.Phe171Ser) rs111033715
NM_000155.4(GALT):c.542C>A (p.Ser181Tyr)
NM_000155.4(GALT):c.550C>T (p.His184Tyr)
NM_000155.4(GALT):c.553C>T (p.Pro185Ser) rs111033826
NM_000155.4(GALT):c.554C>T (p.Pro185Leu) rs111033722
NM_000155.4(GALT):c.556C>T (p.His186Tyr) rs111033725
NM_000155.4(GALT):c.563A>G (p.Gln188Arg) rs75391579
NM_000155.4(GALT):c.564+1G>A rs111033723
NM_000155.4(GALT):c.564+7G>A rs760189807
NM_000155.4(GALT):c.564+9G>A
NM_000155.4(GALT):c.565-7T>C
NM_000155.4(GALT):c.567A>G (p.Val189=)
NM_000155.4(GALT):c.572C>T (p.Ala191Val) rs794727838
NM_000155.4(GALT):c.575G>A (p.Ser192Asn) rs111033734
NM_000155.4(GALT):c.584T>C (p.Leu195Pro) rs111033728
NM_000155.4(GALT):c.585G>T (p.Leu195=)
NM_000155.4(GALT):c.587C>T (p.Pro196Leu) rs886042066
NM_000155.4(GALT):c.598C>T (p.Gln200Ter) rs1564101619
NM_000155.4(GALT):c.601C>T (p.Arg201Cys) rs111033739
NM_000155.4(GALT):c.602G>A (p.Arg201His) rs111033735
NM_000155.4(GALT):c.607G>A (p.Glu203Lys) rs111033736
NM_000155.4(GALT):c.609G>A (p.Glu203=)
NM_000155.4(GALT):c.610C>T (p.Arg204Ter) rs111033737
NM_000155.4(GALT):c.617A>G (p.Gln206Arg) rs1587239309
NM_000155.4(GALT):c.619C>T (p.Gln207Ter) rs111033743
NM_000155.4(GALT):c.626A>C (p.Tyr209Ser) rs111033744
NM_000155.4(GALT):c.626A>G (p.Tyr209Cys) rs111033744
NM_000155.4(GALT):c.632G>C (p.Ser211Thr)
NM_000155.4(GALT):c.642A>G (p.Gly214=)
NM_000155.4(GALT):c.645G>A (p.Glu215=)
NM_000155.4(GALT):c.652C>T (p.Leu218=) rs2070075
NM_000155.4(GALT):c.663C>T (p.Tyr221=)
NM_000155.4(GALT):c.667C>T (p.Arg223Cys) rs111033750
NM_000155.4(GALT):c.669C>T (p.Arg223=)
NM_000155.4(GALT):c.678A>G (p.Leu226=) rs777577533
NM_000155.4(GALT):c.682A>C (p.Arg228=)
NM_000155.4(GALT):c.687+9G>C rs117998880
NM_000155.4(GALT):c.688-10G>A
NM_000155.4(GALT):c.688-1G>C
NM_000155.4(GALT):c.688-4C>T rs374014228
NM_000155.4(GALT):c.691C>G (p.Arg231Gly)
NM_000155.4(GALT):c.691C>T (p.Arg231Cys) rs111033749
NM_000155.4(GALT):c.692G>A (p.Arg231His) rs111033754
NM_000155.4(GALT):c.6G>A (p.Ser2=)
NM_000155.4(GALT):c.700C>T (p.Leu234=) rs751351126
NM_000155.4(GALT):c.702A>G (p.Leu234=)
NM_000155.4(GALT):c.726G>A (p.Leu242=)
NM_000155.4(GALT):c.737G>A (p.Trp246Ter)
NM_000155.4(GALT):c.747G>A (p.Trp249Ter) rs111033758
NM_000155.4(GALT):c.752_753delinsCT (p.Tyr251Ser) rs886043390
NM_000155.4(GALT):c.754C>A (p.Gln252Lys) rs1564101859
NM_000155.4(GALT):c.759A>G (p.Thr253=)
NM_000155.4(GALT):c.760C>T (p.Leu254=)
NM_000155.4(GALT):c.762G>A (p.Leu254=)
NM_000155.4(GALT):c.762G>C (p.Leu254=)
NM_000155.4(GALT):c.772C>T (p.Arg258Cys) rs368166217
NM_000155.4(GALT):c.773G>A (p.Arg258His)
NM_000155.4(GALT):c.775C>T (p.Arg259Trp) rs786204763
NM_000155.4(GALT):c.776G>A (p.Arg259Gln) rs886042070
NM_000155.4(GALT):c.790del (p.Leu264fs)
NM_000155.4(GALT):c.793C>G (p.Pro265Ala) rs111033764
NM_000155.4(GALT):c.795T>G (p.Pro265=)
NM_000155.4(GALT):c.796G>T (p.Glu266Ter)
NM_000155.4(GALT):c.797A>G (p.Glu266Gly)
NM_000155.4(GALT):c.799C>T (p.Leu267=) rs764006034
NM_000155.4(GALT):c.814C>T (p.Arg272Cys) rs111033766
NM_000155.4(GALT):c.814del (p.Arg272fs)
NM_000155.4(GALT):c.815G>A (p.Arg272His) rs111033831
NM_000155.4(GALT):c.82+10C>T
NM_000155.4(GALT):c.82+8C>A
NM_000155.4(GALT):c.82+8C>T rs368244179
NM_000155.4(GALT):c.820+13A>C
NM_000155.4(GALT):c.820+13A>G rs111033768
NM_000155.4(GALT):c.820+4A>C rs398123186
NM_000155.4(GALT):c.821-46G>T rs111033776
NM_000155.4(GALT):c.821-7A>G rs767337193
NM_000155.4(GALT):c.827C>G (p.Ala276Gly) rs1564102003
NM_000155.4(GALT):c.831C>T (p.Ser277=)
NM_000155.4(GALT):c.840G>A (p.Lys280=)
NM_000155.4(GALT):c.844C>G (p.Leu282Val) rs111033772
NM_000155.4(GALT):c.855G>T (p.Lys285Asn) rs111033773
NM_000155.4(GALT):c.863A>G (p.Asn288Ser)
NM_000155.4(GALT):c.864C>T (p.Asn288=) rs372134800
NM_000155.4(GALT):c.876G>A (p.Thr292=) rs1055607
NM_000155.4(GALT):c.879C>T (p.Ser293=) rs115527942
NM_000155.4(GALT):c.885_886insATGGCGTCCTTTCCC (p.Tyr296_Ser297insMetAlaSerPhePro) rs886043498
NM_000155.4(GALT):c.887A>G (p.Tyr296Cys) rs775789069
NM_000155.4(GALT):c.892A>G (p.Met298Val)
NM_000155.4(GALT):c.899G>A (p.Trp300Ter) rs1064794295
NM_000155.4(GALT):c.904+11del
NM_000155.4(GALT):c.904+1G>A
NM_000155.4(GALT):c.904+1G>T rs367543271
NM_000155.4(GALT):c.905-5G>A
NM_000155.4(GALT):c.919T>A (p.Ser307Thr) rs61735983
NM_000155.4(GALT):c.933C>T (p.Ala311=)
NM_000155.4(GALT):c.938G>A (p.Trp313Ter) rs1410159094
NM_000155.4(GALT):c.940A>G (p.Asn314Asp) rs2070074
NM_000155.4(GALT):c.945T>C (p.His315=) rs61735982
NM_000155.4(GALT):c.947G>A (p.Trp316Ter) rs111033790
NM_000155.4(GALT):c.951G>A (p.Gln317=)
NM_000155.4(GALT):c.957C>A (p.His319Gln) rs111033792
NM_000155.4(GALT):c.958G>A (p.Ala320Thr) rs111033795
NM_000155.4(GALT):c.961C>T (p.His321Tyr) rs367543266
NM_000155.4(GALT):c.974C>T (p.Pro325Leu) rs111033794
NM_000155.4(GALT):c.976C>T (p.Leu326Phe)
NM_000155.4(GALT):c.982C>T (p.Arg328Cys) rs144993986
NM_000155.4(GALT):c.993T>C (p.Thr331=)
NM_000155.4(GALT):c.997C>G (p.Arg333Gly) rs111033800
NM_000155.4(GALT):c.997C>T (p.Arg333Trp) rs111033800
NM_000155.4(GALT):c.998G>A (p.Arg333Gln) rs111033808
NM_000155.4(GALT):c.999G>C (p.Arg333=)
NM_000158.4(GBE1):c.1000= (p.Ile334=)
NM_000158.4(GBE1):c.1000A>G (p.Ile334Val)
NM_000158.4(GBE1):c.1011C>T (p.Phe337=) rs916259056
NM_000158.4(GBE1):c.1038G>A (p.Leu346=)
NM_000158.4(GBE1):c.105C>T (p.Asp35=)
NM_000158.4(GBE1):c.1074T>C (p.Gly358=)
NM_000158.4(GBE1):c.1080G>A (p.Thr360=) rs200645261
NM_000158.4(GBE1):c.108G>A (p.Pro36=) rs775188750
NM_000158.4(GBE1):c.1108+8A>T
NM_000158.4(GBE1):c.1108+8del
NM_000158.4(GBE1):c.1109-6del
NM_000158.4(GBE1):c.1110T>C (p.Gly370=)
NM_000158.4(GBE1):c.1134T>G (p.Ser378Arg) rs36099971
NM_000158.4(GBE1):c.1143C>T (p.Phe381=)
NM_000158.4(GBE1):c.114G>A (p.Leu38=)
NM_000158.4(GBE1):c.1167C>T (p.Ala389=)
NM_000158.4(GBE1):c.1173T>G (p.Thr391=)
NM_000158.4(GBE1):c.118C>A (p.Pro40Thr) rs35196441
NM_000158.4(GBE1):c.1200T>C (p.Val400=) rs1464112150
NM_000158.4(GBE1):c.1204A>G (p.Thr402Ala)
NM_000158.4(GBE1):c.1209G>A (p.Leu403=)
NM_000158.4(GBE1):c.1215C>T (p.Pro405=)
NM_000158.4(GBE1):c.1239del (p.Asp413fs) rs758504480
NM_000158.4(GBE1):c.1242A>G (p.Val414=)
NM_000158.4(GBE1):c.1245_1258del (p.Gly416fs)
NM_000158.4(GBE1):c.1283G>C (p.Gly428Ala) rs756129254
NM_000158.4(GBE1):c.1284G>A (p.Gly428=)
NM_000158.4(GBE1):c.12G>A (p.Pro4=)
NM_000158.4(GBE1):c.12G>C (p.Pro4=)
NM_000158.4(GBE1):c.1300C>T (p.Arg434Ter)
NM_000158.4(GBE1):c.1302A>G (p.Arg434=)
NM_000158.4(GBE1):c.1322A>G (p.Asp441Gly)
NM_000158.4(GBE1):c.1335+9C>G rs754084067
NM_000158.4(GBE1):c.1336-1G>A
NM_000158.4(GBE1):c.135C>T (p.Phe45=)
NM_000158.4(GBE1):c.1362C>T (p.Asp454=)
NM_000158.4(GBE1):c.1374C>T (p.Gly458=)
NM_000158.4(GBE1):c.1375G>A (p.Asp459Asn)
NM_000158.4(GBE1):c.1386C>G (p.Tyr462Ter)
NM_000158.4(GBE1):c.1389G>A (p.Thr463=) rs757933285
NM_000158.4(GBE1):c.1392C>T (p.Leu464=) rs563241317
NM_000158.4(GBE1):c.1402C>A (p.Arg468Ser)
NM_000158.4(GBE1):c.1406A>G (p.Tyr469Cys) rs760661724
NM_000158.4(GBE1):c.143+10G>T rs9820490
NM_000158.4(GBE1):c.143+2T>C
NM_000158.4(GBE1):c.143+8C>G rs750447886
NM_000158.4(GBE1):c.143+9G>A rs1267149365
NM_000158.4(GBE1):c.1447-4G>C
NM_000158.4(GBE1):c.1467G>A (p.Ser489=)
NM_000158.4(GBE1):c.1468del (p.Leu490fs) rs774465102
NM_000158.4(GBE1):c.1470G>A (p.Leu490=)
NM_000158.4(GBE1):c.1471G>A (p.Ala491Thr)
NM_000158.4(GBE1):c.1473A>G (p.Ala491=)
NM_000158.4(GBE1):c.1479G>A (p.Trp493Ter)
NM_000158.4(GBE1):c.1492G>A (p.Glu498Lys) rs201758548
NM_000158.4(GBE1):c.1512T>C (p.Ser504=)
NM_000158.4(GBE1):c.1519A>G (p.Thr507Ala) rs2228389
NM_000158.4(GBE1):c.1521T>C (p.Thr507=) rs372821643
NM_000158.4(GBE1):c.1522C>G (p.Pro508Ala)
NM_000158.4(GBE1):c.1543C>T (p.Arg515Cys) rs80338672
NM_000158.4(GBE1):c.1544G>A (p.Arg515His) rs201958741
NM_000158.4(GBE1):c.1561A>T (p.Lys521Ter)
NM_000158.4(GBE1):c.1569T>C (p.Ile523=)
NM_000158.4(GBE1):c.1570C>G (p.Arg524Gly) rs137852888
NM_000158.4(GBE1):c.1570C>T (p.Arg524Ter) rs137852888
NM_000158.4(GBE1):c.1571G>A (p.Arg524Gln) rs80338673
NM_000158.4(GBE1):c.1581G>A (p.Thr527=) rs140571802
NM_000158.4(GBE1):c.159C>T (p.Ser53=)
NM_000158.4(GBE1):c.15G>A (p.Met5Ile) rs62267114
NM_000158.4(GBE1):c.1618+1G>A
NM_000158.4(GBE1):c.1618+4A>G
NM_000158.4(GBE1):c.1619-9G>A
NM_000158.4(GBE1):c.1621A>G (p.Asn541Asp)
NM_000158.4(GBE1):c.1635T>C (p.His545=) rs780741533
NM_000158.4(GBE1):c.1638T>C (p.Pro546=)
NM_000158.4(GBE1):c.1647A>C (p.Leu549Phe) rs544404712
NM_000158.4(GBE1):c.1650C>T (p.Asp550=)
NM_000158.4(GBE1):c.1655C>T (p.Pro552Leu) rs777589783
NM_000158.4(GBE1):c.1675_1676dup (p.Ser559fs)
NM_000158.4(GBE1):c.1706del (p.His568_Leu569insTer)
NM_000158.4(GBE1):c.170A>G (p.Lys57Arg) rs544821452
NM_000158.4(GBE1):c.1713C>T (p.Asp571=) rs373148836
NM_000158.4(GBE1):c.1716C>T (p.Asp572=) rs2229520
NM_000158.4(GBE1):c.1719C>T (p.Asp573=)
NM_000158.4(GBE1):c.1722T>C (p.Leu574=) rs367905308
NM_000158.4(GBE1):c.176T>C (p.Ile59Thr) rs28763904
NM_000158.4(GBE1):c.1770G>A (p.Leu590=)
NM_000158.4(GBE1):c.1781A>G (p.Tyr594Cys) rs370246900
NM_000158.4(GBE1):c.1788G>A (p.Trp596Ter)
NM_000158.4(GBE1):c.1803+1G>A
NM_000158.4(GBE1):c.1803+2T>C rs539203557
NM_000158.4(GBE1):c.1804-2A>T
NM_000158.4(GBE1):c.1806C>A (p.Ala602=)
NM_000158.4(GBE1):c.1809C>T (p.Tyr603=)
NM_000158.4(GBE1):c.1825G>A (p.Glu609Lys) rs772802187
NM_000158.4(GBE1):c.1842T>A (p.Ile614=)
NM_000158.4(GBE1):c.1860T>C (p.Gly620=)
NM_000158.4(GBE1):c.1877A>G (p.Asn626Ser) rs185631651
NM_000158.4(GBE1):c.1902T>C (p.Thr634=)
NM_000158.4(GBE1):c.1909C>T (p.Arg637Ter) rs766935302
NM_000158.4(GBE1):c.1917A>G (p.Gly639=)
NM_000158.4(GBE1):c.1932G>A (p.Gly644=)
NM_000158.4(GBE1):c.1935-10A>G
NM_000158.4(GBE1):c.1935-7G>T rs1474858058
NM_000158.4(GBE1):c.195T>C (p.Gly65=)
NM_000158.4(GBE1):c.1960G>A (p.Ala654Thr)
NM_000158.4(GBE1):c.1964C>T (p.Ala655Val)
NM_000158.4(GBE1):c.1965G>A (p.Ala655=)
NM_000158.4(GBE1):c.1988T>C (p.Leu663Pro) rs761908536
NM_000158.4(GBE1):c.1989G>A (p.Leu663=)
NM_000158.4(GBE1):c.1995C>T (p.His665=) rs201515305
NM_000158.4(GBE1):c.2001T>A (p.Thr667=)
NM_000158.4(GBE1):c.2004C>T (p.Asp668=)
NM_000158.4(GBE1):c.2016G>A (p.Glu672=) rs571448518
NM_000158.4(GBE1):c.2017G>A (p.Ala673Thr) rs193074572
NM_000158.4(GBE1):c.2028T>C (p.His676=)
NM_000158.4(GBE1):c.202_203del (p.Lys68fs)
NM_000158.4(GBE1):c.2035C>T (p.Arg679Cys) rs202158511
NM_000158.4(GBE1):c.2053-3351G>A
NM_000158.4(GBE1):c.2053-4G>C
NM_000158.4(GBE1):c.2058C>T (p.Tyr686=)
NM_000158.4(GBE1):c.2067C>T (p.Ser689=)
NM_000158.4(GBE1):c.2074G>A (p.Ala692Thr) rs192877602
NM_000158.4(GBE1):c.2081T>A (p.Ile694Asn)
NM_000158.4(GBE1):c.2088G>A (p.Gln696=)
NM_000158.4(GBE1):c.2103G>A (p.Pro701=) rs775617188
NM_000158.4(GBE1):c.211A>C (p.Arg71=) rs1576206635
NM_000158.4(GBE1):c.213A>C (p.Arg71Ser)
NM_000158.4(GBE1):c.216del (p.Tyr73fs)
NM_000158.4(GBE1):c.231C>T (p.Gly77=) rs375359843
NM_000158.4(GBE1):c.24G>A (p.Ala8=) rs28763906
NM_000158.4(GBE1):c.259T>C (p.Tyr87His)
NM_000158.4(GBE1):c.270A>G (p.Glu90=)
NM_000158.4(GBE1):c.279G>A (p.Pro93=)
NM_000158.4(GBE1):c.288del (p.Gly97fs) rs1057517315
NM_000158.4(GBE1):c.313+8C>G
NM_000158.4(GBE1):c.313+9T>C rs772444966
NM_000158.4(GBE1):c.314-8T>A
NM_000158.4(GBE1):c.333G>A (p.Ser111=) rs374518318
NM_000158.4(GBE1):c.333G>C (p.Ser111=) rs374518318
NM_000158.4(GBE1):c.333G>T (p.Ser111=)
NM_000158.4(GBE1):c.336C>A (p.Tyr112Ter)
NM_000158.4(GBE1):c.33C>G (p.Pro11=) rs773585404
NM_000158.4(GBE1):c.342C>T (p.Tyr114=) rs13320194
NM_000158.4(GBE1):c.346A>G (p.Lys116Glu) rs377305989
NM_000158.4(GBE1):c.350T>C (p.Leu117Pro) rs186942296
NM_000158.4(GBE1):c.351G>T (p.Leu117=) rs749666538
NM_000158.4(GBE1):c.369G>A (p.Glu123=)
NM_000158.4(GBE1):c.405C>T (p.Leu135=) rs139882066
NM_000158.4(GBE1):c.432A>G (p.Val144=)
NM_000158.4(GBE1):c.43G>A (p.Glu15Lys)
NM_000158.4(GBE1):c.43G>T (p.Glu15Ter)
NM_000158.4(GBE1):c.450C>T (p.Ser150=)
NM_000158.4(GBE1):c.453A>G (p.Gly151=)
NM_000158.4(GBE1):c.45G>A (p.Glu15=) rs370326965
NM_000158.4(GBE1):c.465T>C (p.Tyr155=)
NM_000158.4(GBE1):c.477G>A (p.Pro159=)
NM_000158.4(GBE1):c.483A>C (p.Ala161=)
NM_000158.4(GBE1):c.492G>A (p.Val164=)
NM_000158.4(GBE1):c.505del (p.Asp169fs)
NM_000158.4(GBE1):c.552T>C (p.Tyr184=) rs1576185089
NM_000158.4(GBE1):c.555+14del rs573234623
NM_000158.4(GBE1):c.555+1G>T rs759707498
NM_000158.4(GBE1):c.556-4G>A
NM_000158.4(GBE1):c.556-6C>T
NM_000158.4(GBE1):c.556-9A>G
NM_000158.4(GBE1):c.568A>G (p.Arg190Gly) rs2229519
NM_000158.4(GBE1):c.576G>A (p.Lys192=)
NM_000158.4(GBE1):c.579G>A (p.Lys193=) rs17019144
NM_000158.4(GBE1):c.609T>C (p.His203=)
NM_000158.4(GBE1):c.610G>T (p.Val204Leu)
NM_000158.4(GBE1):c.627T>C (p.His209=)
NM_000158.4(GBE1):c.640G>A (p.Ala214Thr) rs201166587
NM_000158.4(GBE1):c.648T>C (p.Tyr216=) rs1295929595
NM_000158.4(GBE1):c.64C>T (p.Leu22=)
NM_000158.4(GBE1):c.669A>G (p.Val223=)
NM_000158.4(GBE1):c.671T>C (p.Leu224Pro) rs137852886
NM_000158.4(GBE1):c.691+2T>C rs192044702
NM_000158.4(GBE1):c.70del (p.Asp24fs)
NM_000158.4(GBE1):c.718A>G (p.Ile240Val)
NM_000158.4(GBE1):c.75G>A (p.Val25=)
NM_000158.4(GBE1):c.760A>G (p.Thr254Ala) rs770427750
NM_000158.4(GBE1):c.768C>T (p.Phe256=)
NM_000158.4(GBE1):c.783C>G (p.Ser261Arg) rs1559673607
NM_000158.4(GBE1):c.789T>C (p.Tyr263=)
NM_000158.4(GBE1):c.78C>G (p.Pro26=) rs1575782131
NM_000158.4(GBE1):c.791G>A (p.Gly264Glu)
NM_000158.4(GBE1):c.792A>G (p.Gly264=)
NM_000158.4(GBE1):c.807A>G (p.Leu269=) rs760271506
NM_000158.4(GBE1):c.808C>T (p.Gln270Ter)
NM_000158.4(GBE1):c.822C>T (p.Asp274=)
NM_000158.4(GBE1):c.825A>T (p.Thr275=)
NM_000158.4(GBE1):c.839G>A (p.Gly280Asp) rs28763902
NM_000158.4(GBE1):c.846A>C (p.Ile282=)
NM_000158.4(GBE1):c.84G>A (p.Leu28=)
NM_000158.4(GBE1):c.859G>C (p.Val287Leu) rs116899644
NM_000158.4(GBE1):c.905T>C (p.Met302Thr) rs1189654498
NM_000158.4(GBE1):c.909_912del (p.Phe303fs)
NM_000158.4(GBE1):c.91C>T (p.Leu31Phe)
NM_000158.4(GBE1):c.924C>T (p.Ser308=) rs765783805
NM_000158.4(GBE1):c.942A>G (p.Gly314=)
NM_000158.4(GBE1):c.956A>G (p.His319Arg)
NM_000158.4(GBE1):c.969T>C (p.Asp323=) rs555689284
NM_000158.4(GBE1):c.986A>C (p.Tyr329Ser) rs80338671
NM_000158.4(GBE1):c.986A>G (p.Tyr329Cys) rs80338671
NM_000158.4(GBE1):c.987C>T (p.Tyr329=) rs573055138
NM_000158.4(GBE1):c.990C>T (p.Ser330=) rs371194644
NM_000158.4(GBE1):c.992+2T>G
NM_000158.4(GBE1):c.992+8C>T
NM_000158.4(GBE1):c.993-9A>T
NM_000181.4(GUSB):c.-12G>A rs2279903
NM_000181.4(GUSB):c.1020G>A (p.Gly340=) rs372851133
NM_000181.4(GUSB):c.1023A>G (p.Lys341=) rs774381911
NM_000181.4(GUSB):c.1041T>C (p.Gly347=) rs141303888
NM_000181.4(GUSB):c.105G>C (p.Ser35=)
NM_000181.4(GUSB):c.1062G>A (p.Ala354=) rs554759648
NM_000181.4(GUSB):c.1065C>T (p.Asp355=)
NM_000181.4(GUSB):c.1066-5C>T rs376501876
NM_000181.4(GUSB):c.1069C>T (p.Arg357Ter) rs121918185
NM_000181.4(GUSB):c.1091C>T (p.Pro364Leu)
NM_000181.4(GUSB):c.1136A>G (p.Asn379Ser)
NM_000181.4(GUSB):c.1137C>T (p.Asn379=)
NM_000181.4(GUSB):c.1138G>A (p.Ala380Thr)
NM_000181.4(GUSB):c.1238C>T (p.Ala413Val)
NM_000181.4(GUSB):c.1240C>T (p.Leu414=) rs150686327
NM_000181.4(GUSB):c.1291G>A (p.Glu431Lys)
NM_000181.4(GUSB):c.1329C>T (p.Val443=) rs139776224
NM_000181.4(GUSB):c.1337G>A (p.Trp446Ter) rs1434169374
NM_000181.4(GUSB):c.1359G>A (p.Ala453=) rs118066970
NM_000181.4(GUSB):c.13T>C (p.Ser5Pro) rs190496263
NM_000181.4(GUSB):c.1402G>A (p.Ala468Thr) rs752854143
NM_000181.4(GUSB):c.1412A>C (p.Lys471Thr) rs1302470051
NM_000181.4(GUSB):c.147C>T (p.Ala49=)
NM_000181.4(GUSB):c.1482G>A (p.Pro494=) rs548880426
NM_000181.4(GUSB):c.157G>A (p.Asp53Asn)
NM_000181.4(GUSB):c.162C>T (p.Asn54=) rs74975849
NM_000181.4(GUSB):c.163C>T (p.Arg55Ter)
NM_000181.4(GUSB):c.1653+151A>G rs1880555
NM_000181.4(GUSB):c.169C>G (p.Arg57Gly)
NM_000181.4(GUSB):c.170G>T (p.Arg57Leu) rs769252159
NM_000181.4(GUSB):c.1740C>T (p.Tyr580=) rs1061361
NM_000181.4(GUSB):c.1741G>A (p.Val581Met)
NM_000181.4(GUSB):c.1752G>A (p.Glu584=) rs141430018
NM_000181.4(GUSB):c.1789+9C>T rs545446158
NM_000181.4(GUSB):c.1790-2dup
NM_000181.4(GUSB):c.1790-4G>T rs879010457
NM_000181.4(GUSB):c.1790-5del rs750022485
NM_000181.4(GUSB):c.1816A>G (p.Lys606Glu)
NM_000181.4(GUSB):c.1856C>T (p.Ala619Val) rs121918172
NM_000181.4(GUSB):c.1857G>A (p.Ala619=)
NM_000181.4(GUSB):c.185A>G (p.Gln62Arg)
NM_000181.4(GUSB):c.1880G>A (p.Trp627Ter)
NM_000181.4(GUSB):c.1887T>G (p.Ile629Met)
NM_000181.4(GUSB):c.1929A>G (p.Gln643=)
NM_000181.4(GUSB):c.1942A>C (p.Ser648Arg) rs776024156
NM_000181.4(GUSB):c.1946T>C (p.Leu649Pro) rs9530
NM_000181.4(GUSB):c.211-7T>C
NM_000181.4(GUSB):c.211-8C>G rs2293340
NM_000181.4(GUSB):c.216C>T (p.Gly72=) rs77774169
NM_000181.4(GUSB):c.222C>T (p.Thr74=) rs140016611
NM_000181.4(GUSB):c.22G>T (p.Ala8Ser)
NM_000181.4(GUSB):c.447C>T (p.Phe149=)
NM_000181.4(GUSB):c.450G>C (p.Glu150Asp)
NM_000181.4(GUSB):c.453C>G (p.Ala151=) rs144397476
NM_000181.4(GUSB):c.454G>A (p.Asp152Asn) rs149606212
NM_000181.4(GUSB):c.456C>T (p.Asp152=)
NM_000181.4(GUSB):c.466C>T (p.Leu156=)
NM_000181.4(GUSB):c.510C>T (p.Ile170=) rs752674900
NM_000181.4(GUSB):c.526C>T (p.Leu176Phe) rs121918181
NM_000181.4(GUSB):c.532C>T (p.Pro178Ser)
NM_000181.4(GUSB):c.536C>T (p.Thr179Ile)
NM_000181.4(GUSB):c.54C>T (p.Gly18=) rs759514074
NM_000181.4(GUSB):c.552G>A (p.Gly184=)
NM_000181.4(GUSB):c.561A>G (p.Gln187=) rs74430256
NM_000181.4(GUSB):c.613T>C (p.Tyr205His)
NM_000181.4(GUSB):c.658C>G (p.Leu220Val)
NM_000181.4(GUSB):c.669A>T (p.Thr223=) rs201178083
NM_000181.4(GUSB):c.678C>T (p.Thr226=) rs537957979
NM_000181.4(GUSB):c.684C>A (p.Ile228=) rs375590538
NM_000181.4(GUSB):c.684C>T (p.Ile228=)
NM_000181.4(GUSB):c.695C>G (p.Thr232Ser)
NM_000181.4(GUSB):c.697G>A (p.Val233Ile) rs202210104
NM_000181.4(GUSB):c.725-16C>T
NM_000181.4(GUSB):c.764T>A (p.Leu255Gln)
NM_000181.4(GUSB):c.807C>T (p.Val269=) rs571704452
NM_000181.4(GUSB):c.918G>T (p.Gln306His) rs375828604
NM_000181.4(GUSB):c.933G>A (p.Thr311=)
NM_000181.4(GUSB):c.988G>T (p.Ala330Ser) rs561880652
NM_000199.5(SGSH):c.1002C>T (p.Ala334=) rs145596938
NM_000199.5(SGSH):c.1008T>C (p.Phe336=)
NM_000199.5(SGSH):c.1027dup (p.Leu343fs) rs778700037
NM_000199.5(SGSH):c.1035C>T (p.Gly345=) rs748069998
NM_000199.5(SGSH):c.1050G>A (p.Pro350=) rs373992449
NM_000199.5(SGSH):c.1053G>A (p.Ala351=)
NM_000199.5(SGSH):c.1062C>T (p.Ala354=) rs150750383
NM_000199.5(SGSH):c.1063G>A (p.Glu355Lys) rs766938111
NM_000199.5(SGSH):c.1068C>G (p.Pro356=)
NM_000199.5(SGSH):c.1076C>T (p.Ala359Val) rs202150579
NM_000199.5(SGSH):c.1080C>T (p.Thr360=)
NM_000199.5(SGSH):c.1080del (p.Val361fs) rs770947426
NM_000199.5(SGSH):c.1081G>A (p.Val361Ile) rs9894254
NM_000199.5(SGSH):c.1083C>G (p.Val361=)