ClinVar Miner

List of variants studied for carbohydrate metabolism disease

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 18031
Download table as spreadsheet
HGVS dbSNP
AGL, EcoRI FRAGMENT INS
AGXT, 1-BP INS, 33C
AJ298105.1:g.61273_107768delins6086
ALDOB, 7-BP DEL/1-BP INS, 3-PRIME IVS8
BTD, 15-BP DEL/11-BP INS
DLAT, 3-BP DEL, 361GAA
FUCA1, 1-BP DEL, EX2
FUCA1, 1-BP DEL, EX3
FUCA1, 1-BP DEL, EX5
FUCA1, 2-EX DEL
G6PD A-
G6PD:c.1455-13T>C rs2071429
GAA, IVS1AS, G-C, -1
GALNS, 1-BP DEL, 1374T
GALNS, 2-BP DEL, 1343CA
GBE1, 253-BP DEL
GCK, VAL91LEU
GLYCTK, 1-BP DEL, 1448T
GLYCTK, 1-BP DEL, 1558C
GRCh37/hg19 11p15.1(chr11:18418095-18422557)
GRCh37/hg19 16q24.2(chr16:87969915-87970056)
GRCh37/hg19 5q14.1(chr5:78111022-78111871)
GRCh37/hg19 6p21.33(chr6:31824828-31834398)
GRCh37/hg19 9q22.32(chr9:97401423-97401593)
GRCh37/hg19 Xq13.2(chrX:71801020-71804146)
GYG1, 1-BP DEL, 487G
HADH, 6-BP DEL
HADH, EX1DEL
HK1, 96-BP DEL
HLCS, 1-BP DEL, 780G
IDUA, 1-BP DEL, 1702G
LAMP2, 1-BP DEL, 1219A
LAMP2, 1-BP INS, 974A
LAMP2, 2-BP DEL, 1097AA
LCT, 4-BP DEL, NT4998
LDHA, 20-BP DEL, EX6
M60091.1:c.761insT?
M60091.1:c.772C>T
M60091.1:c.775C>T?
MANBA, IVS-AS, A-G, -2
MANBA, IVS13AS, G-A, -1
Multiple alleles
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_000001.10:g.100330092T>A rs794729208
NC_000001.11:g.(?_23859778)_(23859923_?)del
NC_000001.11:g.(?_42925375)_(42959176_?)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_000001.11:g.112956204G>C
NC_000001.11:g.112956208C>T
NC_000001.11:g.112956306C>T
NC_000001.11:g.112956314A>C
NC_000002.12:g.(?_239048168)_(240879119_?)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_000003.12:g.164978889C>T
NC_000003.12:g.58433858A>G rs373907802
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_000004.12:g.107989730A>G
NC_000004.12:g.107989847G>T
NC_000004.12:g.107989877C>A
NC_000005.10:g.(78839427_78885583)_(78885828_78955294)del
NC_000005.10:g.(78885828_78955294)_(78955503_78964415)del
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.(34644527_34645701)_(34650746_34653247)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_000009.11:g.104198025_104198100del
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_000009.12:g.94620329_94620491del163 rs1563984164
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_000016.10:g.47614206_47644831del
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_000017.11:g.42910914_42911426del
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_000022.11:g.32043044G>A
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.(30700906_30707555)_(30728743_?)del
NC_000023.11:g.(30720096_30720620)_(30720742_30720851)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.(?_149478764)_(149505354_?)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
NC_012920.1:m.3243A>G rs199474657
NEU1, 1-BP DEL, 1337C
NG_008005.1:g.(14407_14970)_(15375_?)del
NG_008005.1:g.(7706_9235)_(15375_?)del
NG_008005.1:g.(?_5001)_(11460_12190)del
NG_008005.1:g.(?_5001)_(9305_10233)del
NG_009029.1:g.(?_4752)_(?_9014)
NG_009029.1:g.[4026_7188del; 7307insGAATAGACCCCA; g.7308_9602del]
NG_013368.1:g.5604_20276del
NM_000027.4(AGA):c.*136T>C
NM_000027.4(AGA):c.*13G>C
NM_000027.4(AGA):c.*183A>C rs1061814
NM_000027.4(AGA):c.*207T>C rs546644917
NM_000027.4(AGA):c.*219T>C
NM_000027.4(AGA):c.*220G>C rs12502301
NM_000027.4(AGA):c.*317T>C rs143028069
NM_000027.4(AGA):c.*35G>C
NM_000027.4(AGA):c.*3C>T
NM_000027.4(AGA):c.*457A>G
NM_000027.4(AGA):c.*48G>A rs752452878
NM_000027.4(AGA):c.*635A>G
NM_000027.4(AGA):c.*680G>A rs886059259
NM_000027.4(AGA):c.*718G>A rs72988642
NM_000027.4(AGA):c.*752G>C rs540646864
NM_000027.4(AGA):c.*819_*820CT[2] rs146345347
NM_000027.4(AGA):c.*850C>T rs149021855
NM_000027.4(AGA):c.*851G>A
NM_000027.4(AGA):c.*852C>T rs182081300
NM_000027.4(AGA):c.*856C>G
NM_000027.4(AGA):c.*868C>G rs886059258
NM_000027.4(AGA):c.*882A>C
NM_000027.4(AGA):c.*8T>C rs112307209
NM_000027.4(AGA):c.*915G>A
NM_000027.4(AGA):c.*96A>T rs141424240
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.102_108del (p.Thr33_Trp34insTer) rs386833417
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.115G>A (p.Ala39Thr) rs763326444
NM_000027.4(AGA):c.121G>T (p.Glu41Ter) rs1560952256
NM_000027.4(AGA):c.127+1G>A rs1057516565
NM_000027.4(AGA):c.127+5G>A
NM_000027.4(AGA):c.127+8T>C
NM_000027.4(AGA):c.127_128insATGCGG (p.Ala43_Trp44insAspAla) rs386833418
NM_000027.4(AGA):c.128-2A>G
NM_000027.4(AGA):c.128-7dup
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.178G>A (p.Gly60Ser)
NM_000027.4(AGA):c.179G>A (p.Gly60Asp) rs121964907
NM_000027.4(AGA):c.18C>T (p.Asn6=) rs1579047707
NM_000027.4(AGA):c.192T>A (p.Cys64Ter) rs386833419
NM_000027.4(AGA):c.192del (p.Cys64fs) rs1553994830
NM_000027.4(AGA):c.19T>C (p.Leu7=)
NM_000027.4(AGA):c.1A>G (p.Met1Val) rs1054938291
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.216del (p.Ser72_Val73insTer) rs1560950739
NM_000027.4(AGA):c.219A>G (p.Val73=)
NM_000027.4(AGA):c.224T>C (p.Phe75Ser)
NM_000027.4(AGA):c.248G>A (p.Gly83Glu)
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+1G>T rs1553994812
NM_000027.4(AGA):c.281+8C>T
NM_000027.4(AGA):c.282-9T>G
NM_000027.4(AGA):c.28C>G (p.Leu10Val)
NM_000027.4(AGA):c.28del (p.Leu10fs) rs1057517062
NM_000027.4(AGA):c.299G>A (p.Gly100Glu) rs386833421
NM_000027.4(AGA):c.302C>T (p.Ala101Val) rs121964908
NM_000027.4(AGA):c.303A>T (p.Ala101=) rs142449515
NM_000027.4(AGA):c.308G>A (p.Gly103Glu)
NM_000027.4(AGA):c.308_310del (p.Gly103del) rs1553994762
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.333del (p.Ile112fs) rs1057517223
NM_000027.4(AGA):c.334A>G (p.Ile112Val)
NM_000027.4(AGA):c.336del (p.Ile112fs) rs386833422
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.365C>A (p.Thr122Lys) rs771563230
NM_000027.4(AGA):c.367_371del (p.Thr123fs)
NM_000027.4(AGA):c.369_373del (p.His124fs) rs386833424
NM_000027.4(AGA):c.373_376del (p.Thr125fs) rs386833425
NM_000027.4(AGA):c.375_376del (p.Leu126fs)
NM_000027.4(AGA):c.376C>G (p.Leu126Val) rs200420067
NM_000027.4(AGA):c.376del (p.Leu126fs) rs1553994755
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.395-8A>G rs386833426
NM_000027.4(AGA):c.3G>C (p.Met1Ile) rs937973897
NM_000027.4(AGA):c.402A>G (p.Thr134=)
NM_000027.4(AGA):c.404T>C (p.Phe135Ser) rs386833427
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.439T>C (p.Ser147Pro) rs386833428
NM_000027.4(AGA):c.446C>G (p.Thr149Ser) rs2228119
NM_000027.4(AGA):c.449C>T (p.Ala150Val)
NM_000027.4(AGA):c.44T>G (p.Leu15Arg) rs386833429
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.490C>T (p.Gln164Ter) rs1057517329
NM_000027.4(AGA):c.503G>A (p.Trp168Ter) rs386833430
NM_000027.4(AGA):c.507+10C>T
NM_000027.4(AGA):c.507+5G>C
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.535T>C (p.Cys179Arg)
NM_000027.4(AGA):c.537C>A (p.Cys179Ter) rs748171793
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.571G>C (p.Asp191His) rs766110192
NM_000027.4(AGA):c.585T>C (p.His195=)
NM_000027.4(AGA):c.595G>T (p.Glu199Ter)
NM_000027.4(AGA):c.598G>A (p.Asp200Asn)
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.623-13T>G
NM_000027.4(AGA):c.623-21dup
NM_000027.4(AGA):c.623-2A>G rs1483909684
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+1G>T rs1057517175
NM_000027.4(AGA):c.698+1del
NM_000027.4(AGA):c.699-7C>T rs886059260
NM_000027.4(AGA):c.705A>G (p.Val235=)
NM_000027.4(AGA):c.70del (p.Ser24fs) rs1057517239
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.754G>C (p.Gly252Arg) rs386833432
NM_000027.4(AGA):c.755G>A (p.Gly252Glu) rs386833433
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.770C>T (p.Thr257Ile) rs386833434
NM_000027.4(AGA):c.776A>G (p.Asn259Ser)
NM_000027.4(AGA):c.780T>C (p.Gly260=)
NM_000027.4(AGA):c.788del (p.Ile262_Leu263insTer) rs386833435
NM_000027.4(AGA):c.792G>A (p.Met264Ile)
NM_000027.4(AGA):c.793C>T (p.Arg265Cys) rs146710132
NM_000027.4(AGA):c.794G>A (p.Arg265His) rs375663828
NM_000027.4(AGA):c.800del (p.Leu267fs) rs794728009
NM_000027.4(AGA):c.800dup (p.Pro268fs) rs386833436
NM_000027.4(AGA):c.806+13_806+16del rs369977700
NM_000027.4(AGA):c.824A>G (p.Tyr275Cys)
NM_000027.4(AGA):c.833GAG[1] (p.Gly279del)
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.86del (p.Leu29fs) rs764598121
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.904G>A (p.Gly302Arg) rs121964905
NM_000027.4(AGA):c.906G>A (p.Gly302=)
NM_000027.4(AGA):c.90C>T (p.Val30=) rs371130120
NM_000027.4(AGA):c.916T>C (p.Cys306Arg) rs121964906
NM_000027.4(AGA):c.92T>C (p.Val31Ala) rs886059263
NM_000027.4(AGA):c.93C>T (p.Val31=) rs922841572
NM_000027.4(AGA):c.940+1G>A rs386833437
NM_000027.4(AGA):c.940+1G>T rs386833437
NM_000027.4(AGA):c.940+8G>A
NM_000027.4(AGA):c.941-2A>G rs1553993921
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.95A>C (p.Asn32Thr) rs886059262
NM_000027.4(AGA):c.965C>T (p.Thr322Ile) rs56849061
NM_000027.4(AGA):c.978T>C (p.Phe326=)
NM_000027.4(AGA):c.978T>G (p.Phe326Leu)
NM_000027.4(AGA):c.979A>G (p.Ser327Gly)
NM_000027.4(AGA):c.987G>C (p.Met329Ile)
NM_000027.4(AGA):c.993T>G (p.Tyr331Ter) rs1201784742
NM_000027.4(AGA):c.999C>G (p.Ser333=)
NM_000027.4(AGA):c.999C>T (p.Ser333=) rs1479579564
NM_000030.2(AGXT):c.-46G>A rs73106672
NM_000030.2(AGXT):c.[299_307dup;308G>A]
NM_000030.2(AGXT):c.[829_830insA;830C>A]
NM_000030.3(AGXT):c.*160G>A rs776483024
NM_000030.3(AGXT):c.*162A>G rs886055844
NM_000030.3(AGXT):c.*194A>T
NM_000030.3(AGXT):c.*19G>A rs143458283
NM_000030.3(AGXT):c.*285G>A
NM_000030.3(AGXT):c.*289A>C rs4344931
NM_000030.3(AGXT):c.*39G>A rs369979466
NM_000030.3(AGXT):c.*41C>A rs4273214
NM_000030.3(AGXT):c.*52C>G
NM_000030.3(AGXT):c.-14G>A rs376396832
NM_000030.3(AGXT):c.-23G>A rs116057889
NM_000030.3(AGXT):c.-24C>G
NM_000030.3(AGXT):c.1007T>A (p.Val336Asp) rs180177155
NM_000030.3(AGXT):c.1014C>G (p.Tyr338Ter) rs756437332
NM_000030.3(AGXT):c.1019T>C (p.Ile340Thr)
NM_000030.3(AGXT):c.1020A>G (p.Ile340Met) rs4426527
NM_000030.3(AGXT):c.1023C>A (p.Asp341Glu) rs144007007
NM_000030.3(AGXT):c.1045G>A (p.Gly349Ser) rs796052065
NM_000030.3(AGXT):c.1046G>A (p.Gly349Asp)
NM_000030.3(AGXT):c.1049G>A (p.Gly350Asp) rs180177156
NM_000030.3(AGXT):c.1065G>C (p.Thr355=)
NM_000030.3(AGXT):c.106C>T (p.Arg36Cys) rs180177157
NM_000030.3(AGXT):c.1071+12C>T rs375775541
NM_000030.3(AGXT):c.1071+13G>A rs758413374
NM_000030.3(AGXT):c.1071+1G>A rs180177158
NM_000030.3(AGXT):c.1072-91G>A rs180177159
NM_000030.3(AGXT):c.1076T>C (p.Leu359Pro) rs180177160
NM_000030.3(AGXT):c.1079G>A (p.Arg360Gln) rs180177161
NM_000030.3(AGXT):c.107G>A (p.Arg36His) rs180177162
NM_000030.3(AGXT):c.1084G>A (p.Gly362Ser) rs569643246
NM_000030.3(AGXT):c.1102G>A (p.Ala368Thr) rs180177163
NM_000030.3(AGXT):c.1110_1111del (p.Asn372fs) rs796052075
NM_000030.3(AGXT):c.1111G>A (p.Glu371Lys) rs369664123
NM_000030.3(AGXT):c.1125_1126del (p.Val376fs) rs180177164
NM_000030.3(AGXT):c.1142G>A (p.Arg381Lys) rs151185188
NM_000030.3(AGXT):c.1148C>A (p.Ala383Asp) rs796052066
NM_000030.3(AGXT):c.1151T>C (p.Leu384Pro) rs180177165
NM_000030.3(AGXT):c.116_117dup (p.Ala40fs) rs180177166
NM_000030.3(AGXT):c.1174C>T (p.Leu392=) rs180177167
NM_000030.3(AGXT):c.121G>A (p.Gly41Arg) rs121908523
NM_000030.3(AGXT):c.122G>A (p.Gly41Glu) rs180177168
NM_000030.3(AGXT):c.122G>T (p.Gly41Val) rs180177168
NM_000030.3(AGXT):c.125G>A (p.Gly42Glu) rs180177170
NM_000030.3(AGXT):c.126del (p.Leu43fs) rs180177171
NM_000030.3(AGXT):c.126dup (p.Leu43fs) rs180177171
NM_000030.3(AGXT):c.130C>T (p.Gln44Ter) rs180177172
NM_000030.3(AGXT):c.139G>A (p.Gly47Arg) rs180177173
NM_000030.3(AGXT):c.145A>C (p.Met49Leu) rs74205173
NM_000030.3(AGXT):c.165+12G>C rs201989825
NM_000030.3(AGXT):c.165+16A>G rs66494441
NM_000030.3(AGXT):c.165+19_166-48dup rs180177174
NM_000030.3(AGXT):c.165+40A>C rs57017537
NM_000030.3(AGXT):c.165+44T>A rs58120546
NM_000030.3(AGXT):c.166-14C>T rs180177176
NM_000030.3(AGXT):c.166-1G>A rs180177177
NM_000030.3(AGXT):c.166-47T>C rs180177178
NM_000030.3(AGXT):c.166-54C>T rs180177179
NM_000030.3(AGXT):c.166-56C>T rs114401766
NM_000030.3(AGXT):c.166-57C>T rs180177175
NM_000030.3(AGXT):c.167T>A (p.Ile56Asn) rs180177180
NM_000030.3(AGXT):c.174C>A (p.Asp58Glu)
NM_000030.3(AGXT):c.175G>A (p.Glu59Lys) rs767586362
NM_000030.3(AGXT):c.187G>C (p.Gly63Arg) rs180177181
NM_000030.3(AGXT):c.198C>A (p.Tyr66Ter)
NM_000030.3(AGXT):c.198C>G (p.Tyr66Ter) rs121908521
NM_000030.3(AGXT):c.205C>T (p.Gln69Ter) rs180177182
NM_000030.3(AGXT):c.209C>A (p.Thr70Asn) rs796052058
NM_000030.3(AGXT):c.214A>C (p.Asn72His)
NM_000030.3(AGXT):c.215dup (p.Asn72fs) rs796052069
NM_000030.3(AGXT):c.221_227dup (p.Val77fs) rs180177183
NM_000030.3(AGXT):c.22G>C (p.Val8Leu) rs796052057
NM_000030.3(AGXT):c.242C>A (p.Ser81Ter) rs180177184
NM_000030.3(AGXT):c.242C>T (p.Ser81Leu) rs180177184
NM_000030.3(AGXT):c.244G>C (p.Gly82Arg) rs180177185
NM_000030.3(AGXT):c.245G>A (p.Gly82Glu) rs121908522
NM_000030.3(AGXT):c.248A>G (p.His83Arg) rs180177186
NM_000030.3(AGXT):c.252T>A (p.Cys84Ter)
NM_000030.3(AGXT):c.254C>A (p.Ala85Asp) rs796052059
NM_000030.3(AGXT):c.260_271del (p.Glu87_Leu90del) rs1553648333
NM_000030.3(AGXT):c.264C>T (p.Ala88=) rs35698882
NM_000030.3(AGXT):c.26C>A (p.Thr9Asn) rs115014558
NM_000030.3(AGXT):c.276del (p.Asn92fs) rs180177187
NM_000030.3(AGXT):c.27C>A (p.Thr9=) rs180177188
NM_000030.3(AGXT):c.283G>A (p.Glu95Lys) rs180177189
NM_000030.3(AGXT):c.283_285dup (p.Glu95dup) rs180177190
NM_000030.3(AGXT):c.28C>T (p.Pro10Ser) rs180177191
NM_000030.3(AGXT):c.296C>A (p.Ser99Tyr) rs180177192
NM_000030.3(AGXT):c.2T>C (p.Met1Thr) rs138584408
NM_000030.3(AGXT):c.2_3delinsAT (p.Met1Asn) rs180177194
NM_000030.3(AGXT):c.302T>C (p.Leu101Pro) rs180177195
NM_000030.3(AGXT):c.31C>G (p.Pro11Ala)
NM_000030.3(AGXT):c.322T>C (p.Trp108Arg) rs180177197
NM_000030.3(AGXT):c.323G>A (p.Trp108Ter) rs180177198
NM_000030.3(AGXT):c.324G>T (p.Trp108Cys) rs796052060
NM_000030.3(AGXT):c.326G>T (p.Gly109Val) rs180177199
NM_000030.3(AGXT):c.327del (p.Gln110fs) rs180177200
NM_000030.3(AGXT):c.32C>A (p.Pro11His) rs34116584
NM_000030.3(AGXT):c.32C>G (p.Pro11Arg) rs34116584
NM_000030.3(AGXT):c.32C>T (p.Pro11Leu) rs34116584
NM_000030.3(AGXT):c.32_33del (p.Pro11fs) rs180177201
NM_000030.3(AGXT):c.331C>T (p.Arg111Ter) rs180177202
NM_000030.3(AGXT):c.332G>A (p.Arg111Gln) rs180177203
NM_000030.3(AGXT):c.335C>A (p.Ala112Asp) rs796052061
NM_000030.3(AGXT):c.33del (p.Lys12fs) rs180177201
NM_000030.3(AGXT):c.33dup (p.Lys12fs) rs180177201
NM_000030.3(AGXT):c.341A>G (p.Asp114Gly)
NM_000030.3(AGXT):c.346G>A (p.Gly116Arg) rs180177207
NM_000030.3(AGXT):c.349G>T (p.Glu117Ter) rs180177208
NM_000030.3(AGXT):c.352C>T (p.Arg118Cys) rs376844297
NM_000030.3(AGXT):c.353G>A (p.Arg118His) rs138025751
NM_000030.3(AGXT):c.358+13C>T rs34995778
NM_000030.3(AGXT):c.358+1G>T rs796052067
NM_000030.3(AGXT):c.358+2T>G rs113681235
NM_000030.3(AGXT):c.358+56_358+64del rs180177209
NM_000030.3(AGXT):c.358G>T (p.Gly120Ter)
NM_000030.3(AGXT):c.359-1_382del rs796052070
NM_000030.3(AGXT):c.35A>G (p.Lys12Arg) rs142969817
NM_000030.3(AGXT):c.364C>T (p.Arg122Ter) rs180177210
NM_000030.3(AGXT):c.371A>C (p.His124Pro) rs180177211
NM_000030.3(AGXT):c.385G>C (p.Asp129His) rs180177212
NM_000030.3(AGXT):c.3G>T (p.Met1Ile) rs180177213
NM_000030.3(AGXT):c.406_410dup (p.Gln137fs) rs1553648488
NM_000030.3(AGXT):c.409C>T (p.Gln137Ter) rs180177214
NM_000030.3(AGXT):c.40C>T (p.Leu14=)
NM_000030.3(AGXT):c.412G>T (p.Glu138Ter)
NM_000030.3(AGXT):c.416_418del (p.Val139del) rs180177215
NM_000030.3(AGXT):c.423+1G>A rs1553648493
NM_000030.3(AGXT):c.423+29C>T rs117043148
NM_000030.3(AGXT):c.423+36A>C rs180177216
NM_000030.3(AGXT):c.423+45T>G rs117357855
NM_000030.3(AGXT):c.423G>C (p.Glu141Asp) rs180177217
NM_000030.3(AGXT):c.423G>T (p.Glu141Asp) rs180177217
NM_000030.3(AGXT):c.424-12dup rs398122323
NM_000030.3(AGXT):c.424-16G>A rs74895925
NM_000030.3(AGXT):c.424-2A>G rs180177219
NM_000030.3(AGXT):c.424-4T>C rs369523966
NM_000030.3(AGXT):c.439A>T (p.Lys147Ter)
NM_000030.3(AGXT):c.445del (p.Val149fs) rs180177220
NM_000030.3(AGXT):c.447_454del (p.Leu151fs) rs180177221
NM_000030.3(AGXT):c.449T>C (p.Leu150Pro) rs180177222
NM_000030.3(AGXT):c.454T>A (p.Phe152Ile) rs121908524
NM_000030.3(AGXT):c.457T>G (p.Leu153Val) rs180177223
NM_000030.3(AGXT):c.460del (p.Thr154fs) rs180177224
NM_000030.3(AGXT):c.466G>A (p.Gly156Arg) rs121908530
NM_000030.3(AGXT):c.466G>C (p.Gly156Arg) rs121908530
NM_000030.3(AGXT):c.473C>A (p.Ser158Ter) rs180177225
NM_000030.3(AGXT):c.473C>T (p.Ser158Leu) rs180177225
NM_000030.3(AGXT):c.481G>A (p.Gly161Ser) rs180177227
NM_000030.3(AGXT):c.481G>C (p.Gly161Arg) rs180177227
NM_000030.3(AGXT):c.481G>T (p.Gly161Cys) rs180177227
NM_000030.3(AGXT):c.484G>A (p.Val162Met) rs147497484
NM_000030.3(AGXT):c.489G>A (p.Leu163=) rs147601535
NM_000030.3(AGXT):c.491A>T (p.Gln164Leu)
NM_000030.3(AGXT):c.497T>C (p.Leu166Pro) rs180177230
NM_000030.3(AGXT):c.508G>A (p.Gly170Arg) rs121908529
NM_000030.3(AGXT):c.510G>A (p.Gly170=)
NM_000030.3(AGXT):c.518G>A (p.Cys173Tyr) rs180177231
NM_000030.3(AGXT):c.519C>A (p.Cys173Ter) rs180177232
NM_000030.3(AGXT):c.519_520delinsGA (p.Cys173_His174delinsTrpAsn) rs180177233
NM_000030.3(AGXT):c.524+2T>A rs1553648568
NM_000030.3(AGXT):c.524+3G>A rs886055839
NM_000030.3(AGXT):c.524+6C>A rs770992934
NM_000030.3(AGXT):c.524+91C>T rs10196315
NM_000030.3(AGXT):c.525-1G>A rs180177234
NM_000030.3(AGXT):c.533G>A (p.Cys178Tyr) rs180177235
NM_000030.3(AGXT):c.534C>G (p.Cys178Trp)
NM_000030.3(AGXT):c.537G>C (p.Leu179=) rs565927450
NM_000030.3(AGXT):c.547G>A (p.Asp183Asn) rs180177236
NM_000030.3(AGXT):c.551C>T (p.Ser184Leu)
NM_000030.3(AGXT):c.557C>T (p.Ala186Val) rs117195882
NM_000030.3(AGXT):c.557_562delinsATCGGT (p.Ala186_Ser187delinsAspArg) rs180177237
NM_000030.3(AGXT):c.560C>T (p.Ser187Phe) rs180177238
NM_000030.3(AGXT):c.567C>T (p.Gly189=) rs373612587
NM_000030.3(AGXT):c.568G>A (p.Gly190Arg) rs180177239
NM_000030.3(AGXT):c.570del (p.Thr191fs) rs180177240
NM_000030.3(AGXT):c.577del (p.Leu193fs) rs180177241
NM_000030.3(AGXT):c.577dup (p.Leu193fs) rs180177241
NM_000030.3(AGXT):c.583A>C (p.Met195Leu) rs180177243
NM_000030.3(AGXT):c.584T>G (p.Met195Arg) rs180177244
NM_000030.3(AGXT):c.590G>A (p.Arg197Gln) rs34664134
NM_000030.3(AGXT):c.595G>A (p.Gly199Ser) rs796052062
NM_000030.3(AGXT):c.596-2A>G rs180177245
NM_000030.3(AGXT):c.601G>A (p.Asp201Asn) rs886055840
NM_000030.3(AGXT):c.603C>A (p.Asp201Glu) rs180177246
NM_000030.3(AGXT):c.605T>A (p.Ile202Asn) rs536352238
NM_000030.3(AGXT):c.612C>A (p.Tyr204Ter) rs180177247
NM_000030.3(AGXT):c.613T>C (p.Ser205Pro) rs121908520
NM_000030.3(AGXT):c.614C>A (p.Ser205Ter) rs180177248
NM_000030.3(AGXT):c.614C>T (p.Ser205Leu) rs180177248
NM_000030.3(AGXT):c.628G>C (p.Ala210Pro) rs180177250
NM_000030.3(AGXT):c.642_645del (p.Pro215fs) rs180177251
NM_000030.3(AGXT):c.646G>A (p.Gly216Arg) rs180177252
NM_000030.3(AGXT):c.653C>A (p.Ser218Ter)
NM_000030.3(AGXT):c.653C>T (p.Ser218Leu) rs180177253
NM_000030.3(AGXT):c.654G>A (p.Ser218=) rs33958047
NM_000030.3(AGXT):c.65A>G (p.Asn22Ser) rs34885252
NM_000030.3(AGXT):c.661T>C (p.Ser221Pro) rs180177254
NM_000030.3(AGXT):c.662_664del (p.Ser221del) rs796052071
NM_000030.3(AGXT):c.673_676del (p.Lys225fs) rs1057516896
NM_000030.3(AGXT):c.679_680+2del rs180177255
NM_000030.3(AGXT):c.680+130C>T rs78178548
NM_000030.3(AGXT):c.680+17C>T rs11693280
NM_000030.3(AGXT):c.680+1G>A rs111996685
NM_000030.3(AGXT):c.680+1G>C rs111996685
NM_000030.3(AGXT):c.680+2T>A rs111742810
NM_000030.3(AGXT):c.680+480_776+69delinsTGAGA rs1553648931
NM_000030.3(AGXT):c.680+5G>C rs180177256
NM_000030.3(AGXT):c.680+75G>A rs117619103
NM_000030.3(AGXT):c.681-1G>T rs112673831
NM_000030.3(AGXT):c.681-94G>A rs141154272
NM_000030.3(AGXT):c.683AGA[1] (p.Lys229del) rs1553648979
NM_000030.3(AGXT):c.683AGA[3] (p.Lys229dup) rs1553648979
NM_000030.3(AGXT):c.697C>T (p.Arg233Cys) rs121908526
NM_000030.3(AGXT):c.698G>A (p.Arg233His) rs121908527
NM_000030.3(AGXT):c.698G>T (p.Arg233Leu) rs121908527
NM_000030.3(AGXT):c.705G>A (p.Thr235=) rs35977912
NM_000030.3(AGXT):c.725dup (p.Asp243fs) rs180177257
NM_000030.3(AGXT):c.727G>C (p.Asp243His) rs180177258
NM_000030.3(AGXT):c.731T>C (p.Ile244Thr) rs121908525
NM_000030.3(AGXT):c.732C>A (p.Ile244=) rs147106773
NM_000030.3(AGXT):c.737G>A (p.Trp246Ter) rs180177259
NM_000030.3(AGXT):c.738G>A (p.Trp246Ter) rs121908528
NM_000030.3(AGXT):c.742G>T (p.Ala248Ser) rs180177260
NM_000030.3(AGXT):c.743C>T (p.Ala248Val) rs372482918
NM_000030.3(AGXT):c.744del (p.Asn249fs) rs180177261
NM_000030.3(AGXT):c.74T>G (p.Leu25Arg) rs180177262
NM_000030.3(AGXT):c.751_752delinsAA (p.Trp251Lys) rs796052072
NM_000030.3(AGXT):c.752G>A (p.Trp251Ter) rs786204545
NM_000030.3(AGXT):c.753G>A (p.Trp251Ter) rs180177263
NM_000030.3(AGXT):c.757T>C (p.Cys253Arg) rs180177264
NM_000030.3(AGXT):c.776+1G>A rs180177265
NM_000030.3(AGXT):c.776+1G>C rs180177265
NM_000030.3(AGXT):c.776+2T>G rs1553649007
NM_000030.3(AGXT):c.777-17C>A rs112319664
NM_000030.3(AGXT):c.777-1G>C rs180177267
NM_000030.3(AGXT):c.777-2A>G rs796052068
NM_000030.3(AGXT):c.777-44A>G rs12464426
NM_000030.3(AGXT):c.777-45C>T rs12478859
NM_000030.3(AGXT):c.77T>C (p.Leu26Pro) rs180177268
NM_000030.3(AGXT):c.781C>G (p.His261Asp) rs778567956
NM_000030.3(AGXT):c.783T>A (p.His261Gln) rs180177269
NM_000030.3(AGXT):c.795C>T (p.Pro265=) rs760015739
NM_000030.3(AGXT):c.798_802delinsACAATCTCAG (p.Ile267fs) rs180177270
NM_000030.3(AGXT):c.806T>C (p.Leu269Pro) rs180177271
NM_000030.3(AGXT):c.822G>C (p.Glu274Asp) rs146525143
NM_000030.3(AGXT):c.823A>C (p.Ser275Arg) rs180177272
NM_000030.3(AGXT):c.823_824dup (p.Ser275fs) rs180177273
NM_000030.3(AGXT):c.82C>T (p.Pro28Ser) rs376684240
NM_000030.3(AGXT):c.834del (p.Ile279fs) rs180177276
NM_000030.3(AGXT):c.836T>C (p.Ile279Thr) rs140992177
NM_000030.3(AGXT):c.837T>G (p.Ile279Met) rs180177277
NM_000030.3(AGXT):c.839C>T (p.Ala280Val) rs73106685
NM_000030.3(AGXT):c.83del (p.Pro28fs) rs180177278
NM_000030.3(AGXT):c.840G>A (p.Ala280=) rs143295006
NM_000030.3(AGXT):c.844C>T (p.Gln282Ter) rs180177279
NM_000030.3(AGXT):c.845A>G (p.Gln282Arg) rs180177280
NM_000030.3(AGXT):c.846+1G>A rs180177281
NM_000030.3(AGXT):c.846+1G>T rs180177281
NM_000030.3(AGXT):c.846+52G>A rs12695032
NM_000030.3(AGXT):c.846+5A>G
NM_000030.3(AGXT):c.846+646_942+139del
NM_000030.3(AGXT):c.846G>C (p.Gln282His) rs180177284
NM_000030.3(AGXT):c.847-1G>C rs180177285
NM_000030.3(AGXT):c.847-2_847-1del rs1553649375
NM_000030.3(AGXT):c.847-3C>G rs180177286
NM_000030.3(AGXT):c.851T>C (p.Leu284Pro) rs180177287
NM_000030.3(AGXT):c.853G>T (p.Glu285Ter) rs180177288
NM_000030.3(AGXT):c.860_861delinsCG (p.Ser287Thr) rs180177289
NM_000030.3(AGXT):c.865C>T (p.Arg289Cys) rs180177290
NM_000030.3(AGXT):c.866G>A (p.Arg289His) rs61729604
NM_000030.3(AGXT):c.876C>A (p.Arg292=) rs763852365
NM_000030.3(AGXT):c.882C>T (p.Ala294=)
NM_000030.3(AGXT):c.883G>A (p.Ala295Thr) rs13408961
NM_000030.3(AGXT):c.883GCG[1] (p.Ala296del) rs180177291
NM_000030.3(AGXT):c.885G>A (p.Ala295=) rs377132245
NM_000030.3(AGXT):c.891T>G (p.Tyr297Ter) rs180177292
NM_000030.3(AGXT):c.893T>C (p.Leu298Pro) rs180177293
NM_000030.3(AGXT):c.901C>T (p.Arg301Cys) rs886055841
NM_000030.3(AGXT):c.907C>T (p.Gln303Ter) rs180177294
NM_000030.3(AGXT):c.919del (p.Leu307fs) rs180177295
NM_000030.3(AGXT):c.922C>T (p.Gln308Ter) rs180177296
NM_000030.3(AGXT):c.930C>T (p.Phe310=) rs886055842
NM_000030.3(AGXT):c.942+12C>G
NM_000030.3(AGXT):c.942+14T>G rs886055843
NM_000030.3(AGXT):c.942+1G>T rs180177297
NM_000030.3(AGXT):c.942G>A (p.Pro314=)
NM_000030.3(AGXT):c.943-117C>T rs10199038
NM_000030.3(AGXT):c.943-1G>A rs180177298
NM_000030.3(AGXT):c.943-1G>T rs180177298
NM_000030.3(AGXT):c.947T>C (p.Leu316Pro) rs796052063
NM_000030.3(AGXT):c.949C>T (p.Arg317Trp) rs774030578
NM_000030.3(AGXT):c.950G>A (p.Arg317Gln)
NM_000030.3(AGXT):c.956C>T (p.Pro319Leu) rs180177299
NM_000030.3(AGXT):c.959_960del (p.Thr320fs) rs796052074
NM_000030.3(AGXT):c.971_972del (p.Val324fs) rs180177300
NM_000030.3(AGXT):c.976G>A (p.Val326Ile) rs115057148
NM_000030.3(AGXT):c.976del (p.Val326fs) rs180177301
NM_000030.3(AGXT):c.983_988del (p.Ala328_Tyr330delinsAsp) rs180177302
NM_000030.3(AGXT):c.996G>A (p.Trp332Ter) rs796052064
NM_000030.3(AGXT):c.997A>T (p.Arg333Ter) rs180177303
NM_000035.4(ALDOB):c.*1003A>G rs80292759
NM_000035.4(ALDOB):c.*1119C>T
NM_000035.4(ALDOB):c.*1151A>G rs491979
NM_000035.4(ALDOB):c.*122G>A rs41310087
NM_000035.4(ALDOB):c.*12C>T rs201867948
NM_000035.4(ALDOB):c.*145A>G
NM_000035.4(ALDOB):c.*150del rs200345626
NM_000035.4(ALDOB):c.*152A>G
NM_000035.4(ALDOB):c.*189C>T
NM_000035.4(ALDOB):c.*206C>A rs17772869
NM_000035.4(ALDOB):c.*209C>T
NM_000035.4(ALDOB):c.*268T>C rs142431256
NM_000035.4(ALDOB):c.*26C>T
NM_000035.4(ALDOB):c.*286C>T rs886063291
NM_000035.4(ALDOB):c.*289C>G rs886063290
NM_000035.4(ALDOB):c.*503T>C
NM_000035.4(ALDOB):c.*505C>A rs17772845
NM_000035.4(ALDOB):c.*516T>A
NM_000035.4(ALDOB):c.*552T>A rs41308902
NM_000035.4(ALDOB):c.*567C>T rs540272117
NM_000035.4(ALDOB):c.*568G>A
NM_000035.4(ALDOB):c.*612A>G rs41296049
NM_000035.4(ALDOB):c.*683T>C
NM_000035.4(ALDOB):c.*69C>T rs4577
NM_000035.4(ALDOB):c.*714A>G rs886063289
NM_000035.4(ALDOB):c.*729G>C
NM_000035.4(ALDOB):c.*752C>G rs555999328
NM_000035.4(ALDOB):c.*802A>G rs886063288
NM_000035.4(ALDOB):c.*819A>C
NM_000035.4(ALDOB):c.*849T>C rs181650438
NM_000035.4(ALDOB):c.*897G>A rs17772839
NM_000035.4(ALDOB):c.*898T>C rs886063287
NM_000035.4(ALDOB):c.-10-2043_624+62del
NM_000035.4(ALDOB):c.-11+1G>C rs181639417
NM_000035.4(ALDOB):c.-1C>T rs560091436
NM_000035.4(ALDOB):c.-214G>A rs185972191
NM_000035.4(ALDOB):c.1000-1G>T
NM_000035.4(ALDOB):c.1000-1_1006delinsTG
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.1027T>C (p.Tyr343His) rs369586696
NM_000035.4(ALDOB):c.1035C>T (p.His345=) rs761508514
NM_000035.4(ALDOB):c.1044T>C (p.Ser348=)
NM_000035.4(ALDOB):c.1044_1049delinsACACT (p.Ser349fs)
NM_000035.4(ALDOB):c.1062C>G (p.Thr354=)
NM_000035.4(ALDOB):c.1063C>T (p.Gln355Ter) rs1554702065
NM_000035.4(ALDOB):c.1065G>A (p.Gln355=)
NM_000035.4(ALDOB):c.1068G>A (p.Ser356=)
NM_000035.4(ALDOB):c.1095G>C (p.Ter365Tyr) rs900220679
NM_000035.4(ALDOB):c.10C>T (p.Arg4Ter) rs118204428
NM_000035.4(ALDOB):c.112+1G>A
NM_000035.4(ALDOB):c.112+1del rs1057516534
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.113-7A>C
NM_000035.4(ALDOB):c.127C>T (p.Arg43Cys)
NM_000035.4(ALDOB):c.136A>T (p.Arg46Trp) rs41281039
NM_000035.4(ALDOB):c.146del (p.Val49fs)
NM_000035.4(ALDOB):c.156T>G (p.Thr52=) rs149671008
NM_000035.4(ALDOB):c.166C>T (p.Arg56Cys)
NM_000035.4(ALDOB):c.170G>C (p.Arg57Pro)
NM_000035.4(ALDOB):c.172C>T (p.Gln58Ter)
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.187C>T (p.Leu63Phe)
NM_000035.4(ALDOB):c.18A>T (p.Pro6=)
NM_000035.4(ALDOB):c.207C>T (p.Ser69=) rs779129856
NM_000035.4(ALDOB):c.214C>T (p.Gln72Ter)
NM_000035.4(ALDOB):c.221T>C (p.Ile74Thr) rs781023784
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.250del (p.Leu84fs)
NM_000035.4(ALDOB):c.252C>G (p.Leu84=)
NM_000035.4(ALDOB):c.255C>T (p.Tyr85=)
NM_000035.4(ALDOB):c.264C>A (p.Asp88Glu) rs200585150
NM_000035.4(ALDOB):c.270G>A (p.Gln90=)
NM_000035.4(ALDOB):c.282C>T (p.Phe94=) rs549682194
NM_000035.4(ALDOB):c.285A>G (p.Arg95=)
NM_000035.4(ALDOB):c.287del (p.Asn96fs) rs1554702890
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.306_317dup (p.Val104_Ile107dup)
NM_000035.4(ALDOB):c.309C>T (p.Ile103=) rs747019279
NM_000035.4(ALDOB):c.318A>G (p.Gly106=)
NM_000035.4(ALDOB):c.324+1G>A rs764826805
NM_000035.4(ALDOB):c.324+2T>A rs1057516379
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>A rs1402966846
NM_000035.4(ALDOB):c.325-1G>C
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.344C>T (p.Pro115Leu)
NM_000035.4(ALDOB):c.345_372del (p.Leu116fs)
NM_000035.4(ALDOB):c.352G>A (p.Gly118Arg)
NM_000035.4(ALDOB):c.360_363del (p.Asn120fs) rs387906225
NM_000035.4(ALDOB):c.369C>A (p.Thr123=)
NM_000035.4(ALDOB):c.375T>C (p.Ile125=) rs886063292
NM_000035.4(ALDOB):c.379+1G>A rs138121153
NM_000035.4(ALDOB):c.379+1G>T
NM_000035.4(ALDOB):c.380-1G>A rs1554702666
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.401G>A (p.Arg134His) rs145252200
NM_000035.4(ALDOB):c.403T>C (p.Cys135Arg)
NM_000035.4(ALDOB):c.420del (p.Asp141fs) rs1057517421
NM_000035.4(ALDOB):c.423T>C (p.Asp141=)
NM_000035.4(ALDOB):c.439A>T (p.Lys147Ter)
NM_000035.4(ALDOB):c.43del (p.Glu15fs)
NM_000035.4(ALDOB):c.442T>C (p.Trp148Arg) rs118204430
NM_000035.4(ALDOB):c.444G>A (p.Trp148Ter) rs1057516902
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.466G>A (p.Asp156Asn)
NM_000035.4(ALDOB):c.468C>T (p.Asp156=)
NM_000035.4(ALDOB):c.469C>T (p.Gln157Ter)
NM_000035.4(ALDOB):c.474T>A (p.Cys158Ter)
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>G (p.Tyr174Ter) rs752902486
NM_000035.4(ALDOB):c.522C>T (p.Tyr174=) rs752902486
NM_000035.4(ALDOB):c.523G>A (p.Ala175Thr) rs755134927
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.529A>G (p.Ile177Val)
NM_000035.4(ALDOB):c.532T>C (p.Cys178Arg)
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+1G>C
NM_000035.4(ALDOB):c.540+9C>A
NM_000035.4(ALDOB):c.541-153_800-175del
NM_000035.4(ALDOB):c.541-277_651del
NM_000035.4(ALDOB):c.543T>G (p.Asn181Lys) rs35885472
NM_000035.4(ALDOB):c.546del (p.Leu183fs) rs1057517091
NM_000035.4(ALDOB):c.548_553del (p.Leu183_Val184del) rs387906226
NM_000035.4(ALDOB):c.549G>T (p.Leu183=)
NM_000035.4(ALDOB):c.554C>G (p.Pro185Arg)
NM_000035.4(ALDOB):c.557T>C (p.Ile186Thr)
NM_000035.4(ALDOB):c.582T>C (p.Asp194=) rs141988626
NM_000035.4(ALDOB):c.583G>A (p.Gly195Arg)
NM_000035.4(ALDOB):c.607C>T (p.Gln203Ter)
NM_000035.4(ALDOB):c.612T>A (p.Tyr204Ter) rs370793608
NM_000035.4(ALDOB):c.612T>G (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.625-1G>A rs1564077542
NM_000035.4(ALDOB):c.625-2A>G rs786204503
NM_000035.4(ALDOB):c.62del (p.Gln21fs)
NM_000035.4(ALDOB):c.640T>C (p.Tyr214His)
NM_000035.4(ALDOB):c.654T>C (p.Asn218=) rs780943027
NM_000035.4(ALDOB):c.664G>T (p.Val222Phe) rs1554702442
NM_000035.4(ALDOB):c.673del (p.Glu225fs)
NM_000035.4(ALDOB):c.677G>A (p.Gly226Asp)
NM_000035.4(ALDOB):c.680C>A (p.Thr227Asn)
NM_000035.4(ALDOB):c.681C>T (p.Thr227=) rs61757689
NM_000035.4(ALDOB):c.683_688dup (p.Lys230_Pro231insMetLeu)
NM_000035.4(ALDOB):c.686T>C (p.Leu229Pro) rs1554702433
NM_000035.4(ALDOB):c.689del (p.Lys230fs)
NM_000035.4(ALDOB):c.690G>A (p.Lys230=)
NM_000035.4(ALDOB):c.698T>A (p.Met233Lys) rs777324536
NM_000035.4(ALDOB):c.708T>C (p.Ala236=)
NM_000035.4(ALDOB):c.712dup (p.His238fs) rs1554702425
NM_000035.4(ALDOB):c.717C>T (p.Ala239=) rs772197524
NM_000035.4(ALDOB):c.720C>A (p.Cys240Ter) rs118204426
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.761dup (p.Thr255fs)
NM_000035.4(ALDOB):c.770T>C (p.Leu257Pro)
NM_000035.4(ALDOB):c.799+11C>T rs182245025
NM_000035.4(ALDOB):c.799+2T>A
NM_000035.4(ALDOB):c.799+6G>A rs141888548
NM_000035.4(ALDOB):c.800-2A>C rs199965465
NM_000035.4(ALDOB):c.800-5A>G
NM_000035.4(ALDOB):c.800-6T>C
NM_000035.4(ALDOB):c.806_808del (p.Cys269del) rs1159180033
NM_000035.4(ALDOB):c.812del (p.Leu271fs) rs1554702353
NM_000035.4(ALDOB):c.813G>A (p.Leu271=)
NM_000035.4(ALDOB):c.819T>C (p.Gly273=)
NM_000035.4(ALDOB):c.839C>A (p.Ala280Asp)
NM_000035.4(ALDOB):c.841_842del (p.Thr281fs)
NM_000035.4(ALDOB):c.849C>T (p.Asn283=) rs202062631
NM_000035.4(ALDOB):c.851T>C (p.Leu284Pro)
NM_000035.4(ALDOB):c.865_867del (p.Leu289del) rs118204425
NM_000035.4(ALDOB):c.865del (p.Leu289fs) rs864309533
NM_000035.4(ALDOB):c.873T>A (p.Pro291=) rs765247994
NM_000035.4(ALDOB):c.887G>A (p.Trp296Ter)
NM_000035.4(ALDOB):c.888G>A (p.Trp296Ter) rs1057517133
NM_000035.4(ALDOB):c.906T>C (p.Tyr302=) rs138866018
NM_000035.4(ALDOB):c.910C>T (p.Arg304Trp)
NM_000035.4(ALDOB):c.911G>A (p.Arg304Gln) rs145078268
NM_000035.4(ALDOB):c.912G>C (p.Arg304=)
NM_000035.4(ALDOB):c.915C>G (p.Ala305=)
NM_000035.4(ALDOB):c.932T>C (p.Leu311Pro)
NM_000035.4(ALDOB):c.933G>A (p.Leu311=)
NM_000035.4(ALDOB):c.940dup (p.Trp314fs) rs1554702328
NM_000035.4(ALDOB):c.941G>A (p.Trp314Ter) rs1554702325
NM_000035.4(ALDOB):c.949_950insCAGGGCCCGTGCACTGGCTGCCTGGGGTGGCA (p.Lys317fs)
NM_000035.4(ALDOB):c.94G>C (p.Ala32Pro)
NM_000035.4(ALDOB):c.954T>C (p.Ala318=) rs572044496
NM_000035.4(ALDOB):c.954_995del (p.Ala319_Ala332del)
NM_000035.4(ALDOB):c.956C>T (p.Ala319Val) rs755508323
NM_000035.4(ALDOB):c.964G>T (p.Glu322Ter) rs1172384674
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_000035.4:c.-10_624del
NM_000035.4:c.1_624del
NM_000046.3(ARSB):c.*3195A>G rs16875887
NM_000046.3(ARSB):c.-1015A>G rs886060801
NM_000046.3(ARSB):c.-1058A>G rs886060802
NM_000046.3(ARSB):c.-1178A>G rs163126
NM_000046.3(ARSB):c.-726C>T rs116419942
NM_000046.3(ARSB):c.-840_-839dupCA rs1255033691
NM_000046.3(ARSB):c.-848C>T rs571164401
NM_000046.3(ARSB):c.-850dupT rs574333268
NM_000046.3(ARSB):c.-906C>G rs62377914
NM_000046.3(ARSB):c.-958A>G rs57586329
NM_000046.3:c.384_386delCTC
NM_000046.4(ARSB):c.313-7412_690+1601del
NM_000046.4:c.(312+1_313-1_690+1_691-1)del
NM_000046.5(ARSB):c.*1146G>A
NM_000046.5(ARSB):c.*1147G>A rs886060792
NM_000046.5(ARSB):c.*1153C>A
NM_000046.5(ARSB):c.*1169T>C rs886060791
NM_000046.5(ARSB):c.*1257A>C rs754567
NM_000046.5(ARSB):c.*1276C>G rs886060790
NM_000046.5(ARSB):c.*1286C>T rs886060789
NM_000046.5(ARSB):c.*1302G>T rs754566
NM_000046.5(ARSB):c.*1326G>T
NM_000046.5(ARSB):c.*1360T>A rs886060788
NM_000046.5(ARSB):c.*1372dup rs551749278
NM_000046.5(ARSB):c.*1373A>G
NM_000046.5(ARSB):c.*1387C>T rs555581069
NM_000046.5(ARSB):c.*1420G>A
NM_000046.5(ARSB):c.*1469C>T rs55710452
NM_000046.5(ARSB):c.*1499C>G rs886060787
NM_000046.5(ARSB):c.*1513C>T rs886060786
NM_000046.5(ARSB):c.*1539dup rs886060785
NM_000046.5(ARSB):c.*1594C>A
NM_000046.5(ARSB):c.*1610G>A rs867100156
NM_000046.5(ARSB):c.*1635G>A
NM_000046.5(ARSB):c.*166G>A
NM_000046.5(ARSB):c.*1729del rs369595123
NM_000046.5(ARSB):c.*1899dup rs886060784
NM_000046.5(ARSB):c.*1951A>G
NM_000046.5(ARSB):c.*1989C>T rs878926507
NM_000046.5(ARSB):c.*2013G>A rs113059935
NM_000046.5(ARSB):c.*2022T>G rs7704939
NM_000046.5(ARSB):c.*202A>G rs73770019
NM_000046.5(ARSB):c.*2080G>A rs886060783
NM_000046.5(ARSB):c.*2092A>T
NM_000046.5(ARSB):c.*212A>G rs561718720
NM_000046.5(ARSB):c.*2155C>T
NM_000046.5(ARSB):c.*2158C>T
NM_000046.5(ARSB):c.*2164T>A
NM_000046.5(ARSB):c.*2243A>G rs145585943
NM_000046.5(ARSB):c.*2251G>A
NM_000046.5(ARSB):c.*2287C>T rs886060782
NM_000046.5(ARSB):c.*2408A>G
NM_000046.5(ARSB):c.*2524A>T
NM_000046.5(ARSB):c.*2525A>T
NM_000046.5(ARSB):c.*2526T>A
NM_000046.5(ARSB):c.*2543_*2545dup rs397976147
NM_000046.5(ARSB):c.*2559G>A
NM_000046.5(ARSB):c.*2571A>G
NM_000046.5(ARSB):c.*2578A>T rs548093605
NM_000046.5(ARSB):c.*2593T>G
NM_000046.5(ARSB):c.*2608G>A rs569254528
NM_000046.5(ARSB):c.*2637_*2639dup rs886060781
NM_000046.5(ARSB):c.*2654A>G
NM_000046.5(ARSB):c.*2672A>G rs886060780
NM_000046.5(ARSB):c.*2680C>T
NM_000046.5(ARSB):c.*2684G>A
NM_000046.5(ARSB):c.*2707C>T rs183918206
NM_000046.5(ARSB):c.*2708G>A rs141667208
NM_000046.5(ARSB):c.*2784C>A
NM_000046.5(ARSB):c.*2831T>A
NM_000046.5(ARSB):c.*2859T>C rs116826065
NM_000046.5(ARSB):c.*2975G>T rs3088247
NM_000046.5(ARSB):c.*3047T>C rs560253823
NM_000046.5(ARSB):c.*3147G>A
NM_000046.5(ARSB):c.*3152A>G rs886060779
NM_000046.5(ARSB):c.*3163T>C rs886060778
NM_000046.5(ARSB):c.*3174T>G rs886060777
NM_000046.5(ARSB):c.*3181T>A rs11750774
NM_000046.5(ARSB):c.*3181T>G rs11750774
NM_000046.5(ARSB):c.*340A>C
NM_000046.5(ARSB):c.*384T>A
NM_000046.5(ARSB):c.*420A>G
NM_000046.5(ARSB):c.*608G>A rs886060796
NM_000046.5(ARSB):c.*60G>A rs2173012
NM_000046.5(ARSB):c.*618C>T rs757857543
NM_000046.5(ARSB):c.*619G>T rs886060795
NM_000046.5(ARSB):c.*635C>G rs534480571
NM_000046.5(ARSB):c.*793T>A rs886060794
NM_000046.5(ARSB):c.*810C>T rs777160780
NM_000046.5(ARSB):c.*922C>T
NM_000046.5(ARSB):c.*933C>T
NM_000046.5(ARSB):c.*965A>G
NM_000046.5(ARSB):c.*990C>T rs886060793
NM_000046.5(ARSB):c.*994C>A
NM_000046.5(ARSB):c.-19G>A
NM_000046.5(ARSB):c.1001G>T (p.Ser334Ile) rs1554079311
NM_000046.5(ARSB):c.1011G>A (p.Leu337=)
NM_000046.5(ARSB):c.1026G>A (p.Val342=)
NM_000046.5(ARSB):c.1028A>T (p.Lys343Met) rs1554079305
NM_000046.5(ARSB):c.1032C>G (p.Asn344Lys) rs1554079304
NM_000046.5(ARSB):c.1034G>A (p.Arg345Gln)
NM_000046.5(ARSB):c.1036G>T (p.Glu346Ter)
NM_000046.5(ARSB):c.1036del (p.Glu346fs) rs1554079302
NM_000046.5(ARSB):c.103_118del (p.Pro35fs)
NM_000046.5(ARSB):c.1048A>G (p.Ile350Val) rs79970603
NM_000046.5(ARSB):c.1048A>T (p.Ile350Phe) rs79970603
NM_000046.5(ARSB):c.1052C>T (p.Ser351Phe) rs756671977
NM_000046.5(ARSB):c.1057T>A (p.Trp353Arg) rs1554079297
NM_000046.5(ARSB):c.1059G>A (p.Trp353Ter) rs1554079296
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.1079T>C (p.Leu360Pro) rs1554079284
NM_000046.5(ARSB):c.1086G>A (p.Arg362=) rs144879531
NM_000046.5(ARSB):c.108_120del (p.Ser37fs) rs1028653411
NM_000046.5(ARSB):c.1090C>T (p.His364Tyr)
NM_000046.5(ARSB):c.1115A>G (p.Asp372Gly) rs1554079277
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.1127T>A (p.Val376Glu) rs1554079268
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+1G>T rs746396210
NM_000046.5(ARSB):c.1142+2T>A rs781510986
NM_000046.5(ARSB):c.1142+2T>C rs781510986
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.1143-8T>G rs431905496
NM_000046.5(ARSB):c.114del (p.Ala39fs) rs1554032252
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.1161dup (p.Arg388fs) rs1554074135
NM_000046.5(ARSB):c.1163G>C (p.Arg388Thr) rs1554074134
NM_000046.5(ARSB):c.1168G>A (p.Glu390Lys) rs1554074132
NM_000046.5(ARSB):c.116_123del (p.Ala39fs) rs1554032243
NM_000046.5(ARSB):c.1174C>T (p.Leu392=)
NM_000046.5(ARSB):c.1178A>C (p.His393Pro) rs118203944
NM_000046.5(ARSB):c.1178A>G (p.His393Arg) rs118203944
NM_000046.5(ARSB):c.1191G>A (p.Pro397=) rs25413
NM_000046.5(ARSB):c.1195T>C (p.Phe399Leu) rs762979755
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.1208C>G (p.Ser403Ter) rs771296632
NM_000046.5(ARSB):c.1208del (p.Ser403fs) rs1554074124
NM_000046.5(ARSB):c.1213+5G>A rs1554074119
NM_000046.5(ARSB):c.1213+6T>C rs1554074118
NM_000046.5(ARSB):c.1214-15A>T
NM_000046.5(ARSB):c.1214-2A>G rs1554069808
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.1231G>A (p.Ala411Thr) rs886060797
NM_000046.5(ARSB):c.124A>G (p.Ser42Gly)
NM_000046.5(ARSB):c.1254T>C (p.Ser418=)
NM_000046.5(ARSB):c.1258C>G (p.Pro420Ala) rs769542268
NM_000046.5(ARSB):c.1261G>T (p.Glu421Ter) rs1554069793
NM_000046.5(ARSB):c.1272C>A (p.Ala424=)
NM_000046.5(ARSB):c.1279del (p.Thr427fs) rs1554069791
NM_000046.5(ARSB):c.1286dup (p.His430fs) rs1554069786
NM_000046.5(ARSB):c.1288C>A (p.His430Asn) rs1554069785
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.1301G>T (p.Arg434Ile) rs1252936336
NM_000046.5(ARSB):c.1308A>C (p.Gly436=)
NM_000046.5(ARSB):c.1315A>G (p.Lys439Glu) rs1554069778
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+2T>G rs768012515
NM_000046.5(ARSB):c.1336+7del rs748129076
NM_000046.5(ARSB):c.1336G>A (p.Gly446Ser) rs1554069772
NM_000046.5(ARSB):c.1336G>C (p.Gly446Arg) rs1554069772
NM_000046.5(ARSB):c.1337-3T>A rs183651028
NM_000046.5(ARSB):c.1337-6T>C
NM_000046.5(ARSB):c.1340G>C (p.Cys447Ser) rs1465993279
NM_000046.5(ARSB):c.1340G>T (p.Cys447Phe) rs1465993279
NM_000046.5(ARSB):c.1347C>T (p.Tyr449=)
NM_000046.5(ARSB):c.1349G>T (p.Trp450Leu) rs1554069685
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.1366C>T (p.Gln456Ter) rs200188234
NM_000046.5(ARSB):c.1373A>G (p.Asn458Ser) rs144222167
NM_000046.5(ARSB):c.1389C>T (p.Pro463=)
NM_000046.5(ARSB):c.1391C>A (p.Ser464Ter) rs769996056
NM_000046.5(ARSB):c.1394C>G (p.Ser465Ter) rs1209412483
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.1415T>C (p.Leu472Pro) rs1211360114
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.1442C>T (p.Pro481Leu) rs906245021
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.1450A>G (p.Arg484Gly) rs201101343
NM_000046.5(ARSB):c.1453C>G (p.His485Asp) rs751829762
NM_000046.5(ARSB):c.1457A>T (p.Asp486Val) rs1554069670
NM_000046.5(ARSB):c.1466G>A (p.Arg489Lys)
NM_000046.5(ARSB):c.1475del (p.Pro492fs) rs1554069669
NM_000046.5(ARSB):c.1482C>T (p.Ile494=)
NM_000046.5(ARSB):c.1482del (p.Ile494fs) rs1554069668
NM_000046.5(ARSB):c.1483G>A (p.Val495Ile)
NM_000046.5(ARSB):c.1488A>G (p.Thr496=)
NM_000046.5(ARSB):c.1493T>C (p.Leu498Pro) rs774358117
NM_000046.5(ARSB):c.149T>A (p.Leu50Ter) rs1554032222
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.1507C>T (p.Gln503Ter) rs771113472
NM_000046.5(ARSB):c.150G>A (p.Leu50=)
NM_000046.5(ARSB):c.1515C>T (p.Tyr505=) rs1554069663
NM_000046.5(ARSB):c.152T>C (p.Leu51Pro) rs1554032220
NM_000046.5(ARSB):c.1533C>T (p.Pro511=) rs528157833
NM_000046.5(ARSB):c.1534_1556del (p.Val512fs) rs1310996698
NM_000046.5(ARSB):c.1539C>G (p.Tyr513Ter) rs1251438062
NM_000046.5(ARSB):c.1546G>A (p.Ala516Thr)
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.1562G>A (p.Cys521Tyr) rs1554069661
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.157G>A (p.Asp53Asn) rs1554032217
NM_000046.5(ARSB):c.1582_1596del (p.Val528_Trp532del) rs1554069658
NM_000046.5(ARSB):c.1584G>A (p.Val528=)
NM_000046.5(ARSB):c.1592C>G (p.Pro531Arg) rs1554069659
NM_000046.5(ARSB):c.15C>G (p.Gly5=)
NM_000046.5(ARSB):c.1600T>C (p.Ter534Gln) rs1554069657
NM_000046.5(ARSB):c.1601A>C (p.Ter534Ser)
NM_000046.5(ARSB):c.1601A>G (p.Ter534Trp) rs1554069655
NM_000046.5(ARSB):c.160G>A (p.Asp54Asn) rs1554032216
NM_000046.5(ARSB):c.163C>T (p.Leu55=)
NM_000046.5(ARSB):c.167G>A (p.Gly56Asp) rs1554032211
NM_000046.5(ARSB):c.170G>A (p.Trp57Ter)
NM_000046.5(ARSB):c.171G>C (p.Trp57Cys) rs1554032205
NM_000046.5(ARSB):c.173del (p.Asn58fs)
NM_000046.5(ARSB):c.175G>A (p.Asp59Asn) rs1236509896
NM_000046.5(ARSB):c.176A>T (p.Asp59Val) rs1179935748
NM_000046.5(ARSB):c.178G>A (p.Val60Ile)
NM_000046.5(ARSB):c.189_190insA (p.Gly64fs) rs1554032196
NM_000046.5(ARSB):c.18G>C (p.Ala6=)
NM_000046.5(ARSB):c.194C>T (p.Ser65Phe) rs1233331806
NM_000046.5(ARSB):c.196C>T (p.Arg66Cys)
NM_000046.5(ARSB):c.204C>A (p.Arg68=)
NM_000046.5(ARSB):c.206C>T (p.Thr69Met) rs1554032175
NM_000046.5(ARSB):c.207_213dup (p.Leu72fs) rs1554032160
NM_000046.5(ARSB):c.208_215del (p.Pro70fs) rs1554032155
NM_000046.5(ARSB):c.215T>A (p.Leu72Gln) rs397514441
NM_000046.5(ARSB):c.215T>C (p.Leu72Pro) rs397514441
NM_000046.5(ARSB):c.215T>G (p.Leu72Arg) rs397514441
NM_000046.5(ARSB):c.219del (p.Asp73fs) rs1554032153
NM_000046.5(ARSB):c.222G>A (p.Ala74=)
NM_000046.5(ARSB):c.223_232del (p.Leu75fs) rs1554032145
NM_000046.5(ARSB):c.231C>T (p.Ala77=)
NM_000046.5(ARSB):c.236G>A (p.Gly79Glu) rs1271212818
NM_000046.5(ARSB):c.237_243del (p.Val80fs) rs1554032134
NM_000046.5(ARSB):c.238del (p.Val80fs) rs431905493
NM_000046.5(ARSB):c.240G>A (p.Val80=)
NM_000046.5(ARSB):c.245T>G (p.Leu82Arg) rs749465732
NM_000046.5(ARSB):c.245del (p.Leu82fs) rs750845916
NM_000046.5(ARSB):c.246G>A (p.Leu82=) rs1035210606
NM_000046.5(ARSB):c.247G>T (p.Asp83Tyr) rs1247117898
NM_000046.5(ARSB):c.247_248del (p.Asp83fs) rs1554032131
NM_000046.5(ARSB):c.253T>C (p.Tyr85His) rs1554032129
NM_000046.5(ARSB):c.257del (p.Tyr86fs) rs1554032122
NM_000046.5(ARSB):c.260C>G (p.Thr87Arg) rs1413561387
NM_000046.5(ARSB):c.261G>A (p.Thr87=)
NM_000046.5(ARSB):c.262C>T (p.Gln88Ter) rs1299207831
NM_000046.5(ARSB):c.263dup (p.Pro89fs) rs1554032118
NM_000046.5(ARSB):c.264G>A (p.Gln88=)
NM_000046.5(ARSB):c.264G>C (p.Gln88His) rs750947605
NM_000046.5(ARSB):c.264G>T (p.Gln88His)
NM_000046.5(ARSB):c.270_274del (p.Cys91fs) rs1554032110
NM_000046.5(ARSB):c.271T>C (p.Cys91Arg) rs1554032113
NM_000046.5(ARSB):c.272G>A (p.Cys91Tyr) rs1554032112
NM_000046.5(ARSB):c.275C>A (p.Thr92Lys) rs751010538
NM_000046.5(ARSB):c.275C>T (p.Thr92Met) rs751010538
NM_000046.5(ARSB):c.277C>T (p.Pro93Ser) rs1554032104
NM_000046.5(ARSB):c.278C>T (p.Pro93Leu) rs1339096448
NM_000046.5(ARSB):c.281C>A (p.Ser94Ter) rs1554032099
NM_000046.5(ARSB):c.281C>T (p.Ser94Leu) rs1554032099
NM_000046.5(ARSB):c.282G>A (p.Ser94=)
NM_000046.5(ARSB):c.284G>A (p.Arg95Gln) rs118203942
NM_000046.5(ARSB):c.288C>G (p.Ser96Arg) rs1554032095
NM_000046.5(ARSB):c.289C>T (p.Gln97Ter) rs1554032094
NM_000046.5(ARSB):c.290A>G (p.Gln97Arg) rs886039914
NM_000046.5(ARSB):c.293T>A (p.Leu98Gln) rs1554032090
NM_000046.5(ARSB):c.293T>C (p.Leu98Pro) rs1554032090
NM_000046.5(ARSB):c.293T>G (p.Leu98Arg) rs1554032090
NM_000046.5(ARSB):c.300T>C (p.Thr100=)
NM_000046.5(ARSB):c.305G>A (p.Arg102His) rs759356342
NM_000046.5(ARSB):c.307_312+147del rs1554089838
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.312G>C (p.Gln104His) rs1478202079
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.323G>T (p.Gly108Val) rs768802200
NM_000046.5(ARSB):c.324T>C (p.Gly108=)
NM_000046.5(ARSB):c.328C>T (p.Gln110Ter) rs1554088099
NM_000046.5(ARSB):c.332A>C (p.His111Pro) rs1554088096
NM_000046.5(ARSB):c.339A>T (p.Ile113=)
NM_000046.5(ARSB):c.347C>A (p.Pro116His) rs775780931
NM_000046.5(ARSB):c.349T>C (p.Cys117Arg) rs118203939
NM_000046.5(ARSB):c.351T>C (p.Cys117=)
NM_000046.5(ARSB):c.356_358del (p.Pro119_Ser120delinsArg) rs1554088087
NM_000046.5(ARSB):c.361T>C (p.Cys121Arg) rs1554088083
NM_000046.5(ARSB):c.363T>C (p.Cys121=)
NM_000046.5(ARSB):c.36C>A (p.Gly12=) rs1580170993
NM_000046.5(ARSB):c.375dup (p.Glu126Ter) rs1554088081
NM_000046.5(ARSB):c.384C>G (p.Leu128=)
NM_000046.5(ARSB):c.384_386del (p.Leu129del) rs1180227844
NM_000046.5(ARSB):c.385C>T (p.Leu129=)
NM_000046.5(ARSB):c.385del (p.Leu129fs)
NM_000046.5(ARSB):c.389C>T (p.Pro130Leu) rs1435155976
NM_000046.5(ARSB):c.393G>T (p.Gln131His)
NM_000046.5(ARSB):c.395T>C (p.Leu132Pro) rs1554088079
NM_000046.5(ARSB):c.406G>A (p.Ala136Thr) rs146704780
NM_000046.5(ARSB):c.410G>T (p.Gly137Val) rs118203938
NM_000046.5(ARSB):c.413A>G (p.Tyr138Cys) rs1554088061
NM_000046.5(ARSB):c.418A>C (p.Thr140Pro) rs1554088058
NM_000046.5(ARSB):c.426G>C (p.Met142Ile) rs1554088053
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.436T>C (p.Trp146Arg) rs1554088037
NM_000046.5(ARSB):c.437G>C (p.Trp146Ser) rs1554088034
NM_000046.5(ARSB):c.437G>T (p.Trp146Leu) rs1554088034
NM_000046.5(ARSB):c.438G>A (p.Trp146Ter) rs757061042
NM_000046.5(ARSB):c.43C>G (p.Pro15Ala)
NM_000046.5(ARSB):c.440A>C (p.His147Pro) rs1554088030
NM_000046.5(ARSB):c.441C>G (p.His147Gln)
NM_000046.5(ARSB):c.454C>T (p.Arg152Trp) rs991104525
NM_000046.5(ARSB):c.455G>A (p.Arg152Gln) rs776814144
NM_000046.5(ARSB):c.456G>T (p.Arg152=) rs140747158
NM_000046.5(ARSB):c.464G>A (p.Cys155Tyr) rs1554088019
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.478C>T (p.Arg160Ter) rs1255777033
NM_000046.5(ARSB):c.479G>A (p.Arg160Gln) rs1196325597
NM_000046.5(ARSB):c.489_491del (p.Thr164del) rs1214445569
NM_000046.5(ARSB):c.498del (p.Phe166fs) rs1554088002
NM_000046.5(ARSB):c.499+10A>G
NM_000046.5(ARSB):c.499+7G>A
NM_000046.5(ARSB):c.499G>A (p.Gly167Arg) rs1554087999
NM_000046.5(ARSB):c.500-10A>G
NM_000046.5(ARSB):c.509T>G (p.Leu170Arg) rs1484763838
NM_000046.5(ARSB):c.510G>C (p.Leu170=) rs768312895
NM_000046.5(ARSB):c.511G>A (p.Gly171Ser) rs1554087445
NM_000046.5(ARSB):c.523T>G (p.Tyr175Asp) rs748739839
NM_000046.5(ARSB):c.531C>G (p.Ser177=)
NM_000046.5(ARSB):c.531C>T (p.Ser177=)
NM_000046.5(ARSB):c.532C>G (p.His178Asp) rs1554087441
NM_000046.5(ARSB):c.533A>T (p.His178Leu) rs1554087439
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.589C>T (p.Arg197Ter) rs773460207
NM_000046.5(ARSB):c.60C>T (p.Leu20=)
NM_000046.5(ARSB):c.629A>G (p.Tyr210Cys) rs118203943
NM_000046.5(ARSB):c.630_636del (p.Met209_Tyr210insTer) rs1554087406
NM_000046.5(ARSB):c.635C>T (p.Thr212Ile) rs1554087409
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.659_660del (p.Ile220fs) rs1554087395
NM_000046.5(ARSB):c.663C>T (p.Ala221=)
NM_000046.5(ARSB):c.666C>T (p.Leu222=)
NM_000046.5(ARSB):c.667A>G (p.Ile223Val) rs367650121
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.691-1G>A rs778868348
NM_000046.5(ARSB):c.691-22T>C rs6870443
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.710C>A (p.Ala237Asp) rs1554086435
NM_000046.5(ARSB):c.714C>G (p.Leu238=)
NM_000046.5(ARSB):c.716A>G (p.Gln239Arg) rs1554086431
NM_000046.5(ARSB):c.719C>T (p.Ser240Phe) rs1554086430
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.725A>C (p.His242Pro) rs1554086428
NM_000046.5(ARSB):c.729G>A (p.Glu243=) rs144029271
NM_000046.5(ARSB):c.743del (p.Pro248fs) rs431905494
NM_000046.5(ARSB):c.750_754delinsCCTGAAG (p.Glu250fs) rs1554086417
NM_000046.5(ARSB):c.750_754delinsCCTGAAGTCAAG (p.Glu250fs) rs1554086417
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.765T>A (p.Tyr255Ter) rs1554086414
NM_000046.5(ARSB):c.76C>T (p.Leu26=) rs1220314595
NM_000046.5(ARSB):c.783G>A (p.Lys261=)
NM_000046.5(ARSB):c.785dup (p.Asn262fs) rs749015246
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.803G>T (p.Gly268Val) rs1554086400
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.883_884dup (p.Ile296fs) rs1554086370
NM_000046.5(ARSB):c.886A>C (p.Ile296Leu)
NM_000046.5(ARSB):c.887T>A (p.Ile296Asn) rs1554086368
NM_000046.5(ARSB):c.88C>T (p.Leu30=) rs766870239
NM_000046.5(ARSB):c.899-1337_1142+1055del
NM_000046.5(ARSB):c.900T>A (p.Asp300Glu) rs1280123243
NM_000046.5(ARSB):c.900T>G (p.Asp300Glu) rs1280123243
NM_000046.5(ARSB):c.903C>G (p.Asn301Lys) rs147495977
NM_000046.5(ARSB):c.903C>T (p.Asn301=) rs147495977
NM_000046.5(ARSB):c.904G>A (p.Gly302Arg) rs779378413
NM_000046.5(ARSB):c.908G>A (p.Gly303Glu) rs1408739927
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.922G>A (p.Gly308Arg) rs1554079335
NM_000046.5(ARSB):c.923G>A (p.Gly308Glu) rs1554079333
NM_000046.5(ARSB):c.928A>G (p.Asn310Asp) rs1402584432
NM_000046.5(ARSB):c.936G>T (p.Trp312Cys) rs759384989
NM_000046.5(ARSB):c.937C>G (p.Pro313Ala) rs749989641
NM_000046.5(ARSB):c.937C>T (p.Pro313Ser) rs749989641
NM_000046.5(ARSB):c.942T>C (p.Leu314=)
NM_000046.5(ARSB):c.943C>T (p.Arg315Ter) rs891298440
NM_000046.5(ARSB):c.944G>A (p.Arg315Gln) rs727503809
NM_000046.5(ARSB):c.944G>C (p.Arg315Pro) rs727503809
NM_000046.5(ARSB):c.951A>G (p.Arg317=)
NM_000046.5(ARSB):c.960C>G (p.Ser320Arg) rs762614315
NM_000046.5(ARSB):c.962T>C (p.Leu321Pro) rs1554079320
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.979C>T (p.Arg327Ter) rs773492223
NM_000046.5(ARSB):c.982G>C (p.Gly328Arg) rs748454316
NM_000046.5(ARSB):c.98C>T (p.Ala33Val) rs201168448
NM_000046.5(ARSB):c.995T>G (p.Val332Gly) rs1554079312
NM_000046.5(ARSB):c.999A>G (p.Ala333=) rs1580000383
NM_000046.5(ARSB):c.9G>C (p.Pro3=)
NM_000060.2(BTD):c.[1171C>T;1334G>T]
NM_000060.2(BTD):c.[1207T>G;1330G>C]
NM_000060.2(BTD):c.[133G>A;1271G>C]
NM_000060.2(BTD):c.[133G>A;865G>C]
NM_000060.2(BTD):c.[159C>A;160G>T]
NM_000060.2(BTD):c.[212T>C;236G>A]
NM_000060.2(BTD):c.[235C>T;1361A>C]
NM_000060.2(BTD):c.[235C>T;470G>A]
NM_000060.2(BTD):c.[283C>T;1330G>C]
NM_000060.2(BTD):c.[470G>A;1330G>C]
NM_000060.2(BTD):c.[511G>A;1330G>C]
NM_000060.2(BTD):c.[641A>G;1330G>C]
NM_000060.2(BTD):c.[794A>T;933T>G]
NM_000060.2(BTD):c.[98_104delGCGGCTGinsTCC;212T>C]
NM_000060.4(BTD):c.407dup (p.Val137Glyfs) rs397514439
NM_000108.5(DLD):c.*1027T>G
NM_000108.5(DLD):c.*1074C>G
NM_000108.5(DLD):c.*1088A>G rs886061912
NM_000108.5(DLD):c.*1092C>T rs546777301
NM_000108.5(DLD):c.*1145A>T
NM_000108.5(DLD):c.*1231A>G
NM_000108.5(DLD):c.*1300A>G
NM_000108.5(DLD):c.*1307C>T rs568807016
NM_000108.5(DLD):c.*1401G>T
NM_000108.5(DLD):c.*1422C>T
NM_000108.5(DLD):c.*1451T>C rs2108223
NM_000108.5(DLD):c.*1505C>T
NM_000108.5(DLD):c.*1640A>G
NM_000108.5(DLD):c.*167T>C rs886061909
NM_000108.5(DLD):c.*1688G>A rs8440
NM_000108.5(DLD):c.*1724C>G rs886061913
NM_000108.5(DLD):c.*1736T>C rs190655078
NM_000108.5(DLD):c.*1791_*1794del rs760145994
NM_000108.5(DLD):c.*1857A>C rs774099916
NM_000108.5(DLD):c.*1876G>A
NM_000108.5(DLD):c.*1877A>G rs182010485
NM_000108.5(DLD):c.*18A>T rs8721
NM_000108.5(DLD):c.*207G>A rs4564
NM_000108.5(DLD):c.*225C>T rs553824101
NM_000108.5(DLD):c.*28G>T rs17154615
NM_000108.5(DLD):c.*355A>G rs886061910
NM_000108.5(DLD):c.*374G>T
NM_000108.5(DLD):c.*394A>G
NM_000108.5(DLD):c.*470G>A rs111619940
NM_000108.5(DLD):c.*470G>T
NM_000108.5(DLD):c.*474T>C
NM_000108.5(DLD):c.*487C>T rs4518
NM_000108.5(DLD):c.*498T>G rs886061911
NM_000108.5(DLD):c.*648G>A rs57801571
NM_000108.5(DLD):c.*739G>A
NM_000108.5(DLD):c.*845G>A
NM_000108.5(DLD):c.*855C>T rs116055514
NM_000108.5(DLD):c.*887T>C
NM_000108.5(DLD):c.*898C>T
NM_000108.5(DLD):c.*947G>T rs7777259
NM_000108.5(DLD):c.*978T>C rs2158835
NM_000108.5(DLD):c.-10C>T
NM_000108.5(DLD):c.-8G>T rs372155330
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>G (p.Tyr35Ter) rs747810875
NM_000108.5(DLD):c.105C>T (p.Tyr35=) rs747810875
NM_000108.5(DLD):c.105del (p.Thr34_Tyr35insTer) rs1554396895
NM_000108.5(DLD):c.1081A>G (p.Met361Val) rs121964993
NM_000108.5(DLD):c.1101G>A (p.Glu367=)
NM_000108.5(DLD):c.1105G>T (p.Glu369Ter)
NM_000108.5(DLD):c.1119T>A (p.Cys373Ter)
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.116C>T (p.Pro39Leu) rs766396602
NM_000108.5(DLD):c.1178T>C (p.Ile393Thr) rs121964991
NM_000108.5(DLD):c.117G>A (p.Pro39=) rs751621846
NM_000108.5(DLD):c.118+10T>G
NM_000108.5(DLD):c.118+1G>T rs1554396908
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.1228A>C (p.Lys410Gln) rs886061907
NM_000108.5(DLD):c.1236+13A>G rs2701026
NM_000108.5(DLD):c.1236+1G>T rs1554400483
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.1313T>C (p.Met438Thr)
NM_000108.5(DLD):c.1320G>A (p.Lys440=)
NM_000108.5(DLD):c.1333A>G (p.Lys445Glu)
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.1382G>A (p.Gly461Glu) rs757275923
NM_000108.5(DLD):c.1395T>C (p.Asn465=) rs76313180
NM_000108.5(DLD):c.1396G>T (p.Glu466Ter)
NM_000108.5(DLD):c.140T>C (p.Ile47Thr) rs397514651
NM_000108.5(DLD):c.1416_1422del (p.Tyr473fs)
NM_000108.5(DLD):c.1421del (p.Gly474fs) rs1554400699
NM_000108.5(DLD):c.1422A>C (p.Gly474=) rs34453495
NM_000108.5(DLD):c.1428C>T (p.Ser476=)
NM_000108.5(DLD):c.1429_1432del (p.Cys477fs) rs1554400704
NM_000108.5(DLD):c.1436A>T (p.Asp479Val) rs397514649
NM_000108.5(DLD):c.1439T>C (p.Ile480Thr)
NM_000108.5(DLD):c.1440A>G (p.Ile480Met) rs772512477
NM_000108.5(DLD):c.1443T>G (p.Ala481=) rs775957704
NM_000108.5(DLD):c.1444A>G (p.Arg482Gly) rs397514650
NM_000108.5(DLD):c.1446_1447del (p.Arg482fs) rs1554400713
NM_000108.5(DLD):c.1452T>C (p.Cys484=) rs760982359
NM_000108.5(DLD):c.1463C>T (p.Pro488Leu) rs121964988
NM_000108.5(DLD):c.1463del (p.Pro488fs) rs1554400720
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.1471T>C (p.Ser491Pro)
NM_000108.5(DLD):c.1482T>C (p.Phe494=)
NM_000108.5(DLD):c.1483A>G (p.Arg495Gly) rs121964989
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.1520_1523del (p.Ile507fs) rs777884525
NM_000108.5(DLD):c.1528T>C (p.Ter510Arg) rs1554400769
NM_000108.5(DLD):c.161A>G (p.Tyr54Cys) rs763303046
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.191G>C (p.Gly64Ala)
NM_000108.5(DLD):c.198+10G>C
NM_000108.5(DLD):c.198+1G>A rs1554398193
NM_000108.5(DLD):c.199-10T>C
NM_000108.5(DLD):c.199-1G>A rs1554398264
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.214A>G (p.Lys72Glu) rs121964987
NM_000108.5(DLD):c.223dup (p.Thr75fs) rs1057517214
NM_000108.5(DLD):c.226C>T (p.Leu76Phe)
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+15del rs886061906
NM_000108.5(DLD):c.267+9G>A rs188936529
NM_000108.5(DLD):c.268-2A>G rs1554398461
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>A (p.Ser10=)
NM_000108.5(DLD):c.30C>T (p.Ser10=)
NM_000108.5(DLD):c.321A>G (p.Ala107=) rs138398782
NM_000108.5(DLD):c.325A>T (p.Arg109Ter)
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.338-2_338-1delinsT rs1554398624
NM_000108.5(DLD):c.342C>T (p.Ser114=)
NM_000108.5(DLD):c.345del (p.Val116fs) rs1554398625
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.39+1G>A rs111257462
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.508G>A (p.Gly170Ser)
NM_000108.5(DLD):c.519T>G (p.Val173=) rs148559280
NM_000108.5(DLD):c.520A>G (p.Ile174Val)
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.656T>C (p.Ile219Thr)
NM_000108.5(DLD):c.669A>C (p.Val223=)
NM_000108.5(DLD):c.675T>C (p.Gly225=) rs73726765
NM_000108.5(DLD):c.677T>C (p.Val226Ala) rs750449027
NM_000108.5(DLD):c.684+1G>T rs780025714
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.748G>T (p.Gly250Ter)
NM_000108.5(DLD):c.74A>C (p.Gln25Pro) rs61749951
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.802C>T (p.Gln268Ter)
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.82del (p.Ser28fs) rs764704217
NM_000108.5(DLD):c.834T>C (p.Val278=)
NM_000108.5(DLD):c.857A>G (p.Asp286Gly)
NM_000108.5(DLD):c.860G>A (p.Gly287Glu) rs202125745
NM_000108.5(DLD):c.865dup (p.Ile289fs) rs1554400179
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.904G>T (p.Glu302Ter)
NM_000108.5(DLD):c.936C>A (p.Cys312Ter)
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_000146.4(FTL):c.163T>C (p.Leu55=) rs2230267
NM_000147.4(FUCA1):c.*270T>C rs143441916
NM_000147.4(FUCA1):c.*286C>A rs886046324
NM_000147.4(FUCA1):c.*438_*442del rs886046323
NM_000147.4(FUCA1):c.*527A>G rs886046322
NM_000147.4(FUCA1):c.*544T>A rs886046321
NM_000147.4(FUCA1):c.-12T>C rs2070954
NM_000147.4(FUCA1):c.-44G>A rs139832548
NM_000147.4(FUCA1):c.-86T>G rs2070953
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.1160G>A (p.Trp387Ter) rs80358197
NM_000147.4(FUCA1):c.1229T>G (p.Leu410Arg) rs80358199
NM_000147.4(FUCA1):c.1274G>A (p.Gly425Glu) rs150422575
NM_000147.4(FUCA1):c.1279C>T (p.Gln427Ter) rs118204450
NM_000147.4(FUCA1):c.151_160del (p.Ala51fs) rs1570692560
NM_000147.4(FUCA1):c.167C>G (p.Ala56Gly) rs886046325
NM_000147.4(FUCA1):c.209C>T (p.Pro70Leu) rs770492031
NM_000147.4(FUCA1):c.244C>T (p.Gln82Ter) rs80358196
NM_000147.4(FUCA1):c.29C>G (p.Pro10Arg) rs2070956
NM_000147.4(FUCA1):c.30G>C (p.Pro10=) rs886046326
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.422G>T (p.Gly141Val) rs753232669
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.464C>T (p.Ser155Phe) rs587779398
NM_000147.4(FUCA1):c.4C>A (p.Arg2=) rs2070955
NM_000147.4(FUCA1):c.4C>T (p.Arg2Trp) rs2070955
NM_000147.4(FUCA1):c.525-8T>G rs41268125
NM_000147.4(FUCA1):c.564G>A (p.Trp188Ter) rs189315801
NM_000147.4(FUCA1):c.648C>A (p.Tyr216Ter) rs80358198
NM_000147.4(FUCA1):c.648C>T (p.Tyr216=) rs80358198
NM_000147.4(FUCA1):c.649G>A (p.Asp217Asn) rs781345107
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.790C>T (p.Arg264Ter) rs587779399
NM_000147.4(FUCA1):c.7G>C (p.Ala3Pro) rs61996282
NM_000147.4(FUCA1):c.810del (p.Cys271fs) rs1557510081
NM_000147.4(FUCA1):c.825A>T (p.Gly275=) rs199675692
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.923G>A (p.Arg308His) rs372537257
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+1G>A rs1570679652
NM_000147.4(FUCA1):c.969+5G>C rs115939152
NM_000147.5(FUCA1):c.*342C>A
NM_000147.5(FUCA1):c.*97T>C
NM_000147.5(FUCA1):c.1024A>G (p.Thr342Ala)
NM_000147.5(FUCA1):c.106C>T (p.Arg36Cys)
NM_000147.5(FUCA1):c.1075G>A (p.Gly359Arg)
NM_000147.5(FUCA1):c.1076G>A (p.Gly359Glu)
NM_000147.5(FUCA1):c.1138G>C (p.Glu380Gln)
NM_000147.5(FUCA1):c.1260+7A>C
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.170del (p.Lys57fs)
NM_000147.5(FUCA1):c.215G>A (p.Trp72Ter)
NM_000147.5(FUCA1):c.237del (p.Trp79fs)
NM_000147.5(FUCA1):c.343T>C (p.Phe115Leu)
NM_000147.5(FUCA1):c.350C>T (p.Pro117Leu)
NM_000147.5(FUCA1):c.389+15G>C
NM_000147.5(FUCA1):c.390-95_768+150del
NM_000147.5(FUCA1):c.404C>A (p.Thr135Lys)
NM_000147.5(FUCA1):c.420A>C (p.Glu140Asp)
NM_000147.5(FUCA1):c.472G>A (p.Val158Met)
NM_000147.5(FUCA1):c.489T>C (p.Asp163=)
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.662+5G>C
NM_000147.5(FUCA1):c.662_662+8del
NM_000147.5(FUCA1):c.663-11A>G
NM_000147.5(FUCA1):c.691G>A (p.Gly231Arg)
NM_000147.5(FUCA1):c.768+1G>A
NM_000147.5(FUCA1):c.82del (p.Val28fs)
NM_000147.5(FUCA1):c.86G>T (p.Arg29Leu)
NM_000147.5(FUCA1):c.952G>T (p.Glu318Ter)
NM_000147.5(FUCA1):c.995G>A (p.Gly332Glu)
NM_000151.4(G6PC1):c.*1012C>T rs75063448
NM_000151.4(G6PC1):c.*1039G>T rs549474805
NM_000151.4(G6PC1):c.*103C>T
NM_000151.4(G6PC1):c.*119C>T rs886052957
NM_000151.4(G6PC1):c.*120G>A rs150477898
NM_000151.4(G6PC1):c.*1210C>G rs144568330
NM_000151.4(G6PC1):c.*1227dup rs397735497
NM_000151.4(G6PC1):c.*1294C>A rs161620
NM_000151.4(G6PC1):c.*1304G>A rs549833149
NM_000151.4(G6PC1):c.*1311G>A
NM_000151.4(G6PC1):c.*1313A>G rs886052962
NM_000151.4(G6PC1):c.*1324C>T rs548787621
NM_000151.4(G6PC1):c.*1400G>A
NM_000151.4(G6PC1):c.*1454C>T rs148453821
NM_000151.4(G6PC1):c.*1458C>T
NM_000151.4(G6PC1):c.*1466T>C
NM_000151.4(G6PC1):c.*1513C>T rs374021788
NM_000151.4(G6PC1):c.*1514G>A
NM_000151.4(G6PC1):c.*1527C>T
NM_000151.4(G6PC1):c.*1545_*1552TTTTAGAA[1] rs397717945
NM_000151.4(G6PC1):c.*1550G>T
NM_000151.4(G6PC1):c.*1552A>T rs138968865
NM_000151.4(G6PC1):c.*1640G>T
NM_000151.4(G6PC1):c.*1652C>T rs765883953
NM_000151.4(G6PC1):c.*1671C>T
NM_000151.4(G6PC1):c.*17G>A
NM_000151.4(G6PC1):c.*1901A>G
NM_000151.4(G6PC1):c.*1970A>G rs192778595
NM_000151.4(G6PC1):c.*1981C>T rs573802724
NM_000151.4(G6PC1):c.*1986T>C rs542411157
NM_000151.4(G6PC1):c.*2081T>A
NM_000151.4(G6PC1):c.*2088A>T rs9902963
NM_000151.4(G6PC1):c.*2095T>A rs692180
NM_000151.4(G6PC1):c.*211T>C rs886052958
NM_000151.4(G6PC1):c.*2133C>T rs183542930
NM_000151.4(G6PC1):c.*2134G>A rs886052963
NM_000151.4(G6PC1):c.*2184T>A
NM_000151.4(G6PC1):c.*2311C>T rs372226654
NM_000151.4(G6PC1):c.*23T>C rs2229611
NM_000151.4(G6PC1):c.*2418G>C
NM_000151.4(G6PC1):c.*2474C>T
NM_000151.4(G6PC1):c.*24A>C rs377739870
NM_000151.4(G6PC1):c.*2501C>G rs886052964
NM_000151.4(G6PC1):c.*250G>A
NM_000151.4(G6PC1):c.*2519G>T rs886052965
NM_000151.4(G6PC1):c.*251C>T
NM_000151.4(G6PC1):c.*2532G>A rs76156285
NM_000151.4(G6PC1):c.*2611C>T rs186556135
NM_000151.4(G6PC1):c.*2687del rs113390675
NM_000151.4(G6PC1):c.*2723G>A
NM_000151.4(G6PC1):c.*2800G>A rs886052967
NM_000151.4(G6PC1):c.*2847T>C rs139115520
NM_000151.4(G6PC1):c.*2857C>T
NM_000151.4(G6PC1):c.*286A>G rs886052959
NM_000151.4(G6PC1):c.*2975A>T
NM_000151.4(G6PC1):c.*2980A>G
NM_000151.4(G6PC1):c.*2981G>T rs886052968
NM_000151.4(G6PC1):c.*3G>A rs191399793
NM_000151.4(G6PC1):c.*492A>C rs532485841
NM_000151.4(G6PC1):c.*556C>T rs533491939
NM_000151.4(G6PC1):c.*607G>A rs886052960
NM_000151.4(G6PC1):c.*680G>A
NM_000151.4(G6PC1):c.*703G>A rs375295552
NM_000151.4(G6PC1):c.*714A>G rs886052961
NM_000151.4(G6PC1):c.*727T>C rs80193931
NM_000151.4(G6PC1):c.*745G>T rs116897758
NM_000151.4(G6PC1):c.*877T>C rs72826982
NM_000151.4(G6PC1):c.*887T>C
NM_000151.4(G6PC1):c.*986A>T rs370935410
NM_000151.4(G6PC1):c.-45G>A rs367816430
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.1051C>T (p.Gln351Ter)
NM_000151.4(G6PC1):c.1056G>A (p.Pro352=) rs779263877
NM_000151.4(G6PC1):c.1065G>T (p.Lys355Asn)
NM_000151.4(G6PC1):c.1067C>A (p.Ser356Ter) rs1555560217
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.133G>A (p.Val45Ile)
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.150_151del (p.Trp50fs) rs1057516674
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.208del (p.Trp70fs)
NM_000151.4(G6PC1):c.209G>A (p.Trp70Ter) rs1567702823
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.230+11T>C
NM_000151.4(G6PC1):c.230+1G>C rs863224023
NM_000151.4(G6PC1):c.230+4A>G rs587776757
NM_000151.4(G6PC1):c.231-12G>A
NM_000151.4(G6PC1):c.231-1G>A rs1555559279
NM_000151.4(G6PC1):c.231-5C>T
NM_000151.4(G6PC1):c.241G>A (p.Gly81Arg) rs756632286
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.258G>A (p.Trp86Ter) rs142917638
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+20C>T rs183285298
NM_000151.4(G6PC1):c.340+7G>A
NM_000151.4(G6PC1):c.340+7G>T
NM_000151.4(G6PC1):c.341G>A (p.Gly114Glu) rs544563908
NM_000151.4(G6PC1):c.341G>C (p.Gly114Ala)
NM_000151.4(G6PC1):c.354C>G (p.Gly118=)
NM_000151.4(G6PC1):c.355C>G (p.His119Asp)
NM_000151.4(G6PC1):c.356A>T (p.His119Leu)
NM_000151.4(G6PC1):c.360C>T (p.Ala120=)
NM_000151.4(G6PC1):c.361A>G (p.Met121Val) rs1555559733
NM_000151.4(G6PC1):c.365G>A (p.Gly122Asp)
NM_000151.4(G6PC1):c.368C>A (p.Thr123Lys)
NM_000151.4(G6PC1):c.368C>T (p.Thr123Ile)
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.381C>A (p.Tyr127Ter) rs1555559741
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.388_400del (p.Met130fs) rs1567705064
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.447-1G>A rs1411037881
NM_000151.4(G6PC1):c.447-6T>C rs1597990833
NM_000151.4(G6PC1):c.447G>A (p.Arg149=) rs549712764
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.468G>A (p.Trp156Ter)
NM_000151.4(G6PC1):c.479G>A (p.Trp160Ter)
NM_000151.4(G6PC1):c.47C>G (p.Thr16Arg) rs1555558914
NM_000151.4(G6PC1):c.497T>C (p.Val166Ala) rs104894571
NM_000151.4(G6PC1):c.497T>G (p.Val166Gly) rs104894571
NM_000151.4(G6PC1):c.499dup (p.Cys167fs) rs1057516630
NM_000151.4(G6PC1):c.508C>T (p.Arg170Ter) rs373345919
NM_000151.4(G6PC1):c.509G>A (p.Arg170Gln)
NM_000151.4(G6PC1):c.511del (p.Ile171fs) rs1597990895
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.526C>T (p.His176Tyr) rs1597990906
NM_000151.4(G6PC1):c.52_67dup (p.Tyr23fs) rs1555558920
NM_000151.4(G6PC1):c.538C>T (p.Gln180Ter) rs1597990921
NM_000151.4(G6PC1):c.549T>C (p.Ala183=)
NM_000151.4(G6PC1):c.550G>T (p.Gly184Ter)
NM_000151.4(G6PC1):c.551G>A (p.Gly184Glu) rs104894569
NM_000151.4(G6PC1):c.551G>T (p.Gly184Val) rs104894569
NM_000151.4(G6PC1):c.553G>A (p.Val185Ile)
NM_000151.4(G6PC1):c.558G>T (p.Leu186=) rs141376085
NM_000151.4(G6PC1):c.560C>G (p.Ser187Ter) rs1485038937
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.563-3C>G rs1597991608
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.577G>C (p.Glu193Gln) rs886052956
NM_000151.4(G6PC1):c.580A>G (p.Thr194Ala)
NM_000151.4(G6PC1):c.582T>C (p.Thr194=)
NM_000151.4(G6PC1):c.59A>G (p.Gln20Arg)
NM_000151.4(G6PC1):c.606T>C (p.Tyr202=) rs1555560103
NM_000151.4(G6PC1):c.610G>T (p.Ala204Ser)
NM_000151.4(G6PC1):c.615C>T (p.Ser205=) rs374522795
NM_000151.4(G6PC1):c.61del (p.Gln20_Val21insTer)
NM_000151.4(G6PC1):c.626A>G (p.Tyr209Cys)
NM_000151.4(G6PC1):c.634A>G (p.Ile212Val)
NM_000151.4(G6PC1):c.634A>T (p.Ile212Phe) rs756944737
NM_000151.4(G6PC1):c.638C>T (p.Thr213Ile) rs201649392
NM_000151.4(G6PC1):c.642C>T (p.Phe214=)
NM_000151.4(G6PC1):c.643T>C (p.Phe215Leu)
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.665G>C (p.Gly222Ala) rs515726229
NM_000151.4(G6PC1):c.66T>C (p.Asn22=)
NM_000151.4(G6PC1):c.674T>C (p.Leu225Pro) rs1555560128
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.707G>A (p.Trp236Ter) rs1457925404
NM_000151.4(G6PC1):c.708G>A (p.Trp236Ter)
NM_000151.4(G6PC1):c.723C>T (p.Ala241=) rs762967975
NM_000151.4(G6PC1):c.724C>T (p.Gln242Ter) rs80356485
NM_000151.4(G6PC1):c.726G>A (p.Gln242=)
NM_000151.4(G6PC1):c.731G>A (p.Trp244Ter) rs1555560140
NM_000151.4(G6PC1):c.753C>A (p.Val251=) rs1422424986
NM_000151.4(G6PC1):c.753C>T (p.Val251=)
NM_000151.4(G6PC1):c.757del (p.Ile253fs)
NM_000151.4(G6PC1):c.765C>T (p.Thr255=) rs1555560144
NM_000151.4(G6PC1):c.770C>A (p.Pro257His) rs1597991733
NM_000151.4(G6PC1):c.780C>T (p.Ser260=)
NM_000151.4(G6PC1):c.781CTC[1] (p.Leu262del) rs1305819623
NM_000151.4(G6PC1):c.786C>T (p.Leu262=) rs138509513
NM_000151.4(G6PC1):c.792C>A (p.Asn264Lys) rs1555560149
NM_000151.4(G6PC1):c.792C>G (p.Asn264Lys)
NM_000151.4(G6PC1):c.798del (p.Thr267fs) rs749323139
NM_000151.4(G6PC1):c.79C>T (p.Gln27Ter) rs1057516367
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.81G>C (p.Gln27His) rs371611000
NM_000151.4(G6PC1):c.821C>T (p.Ala274Val)
NM_000151.4(G6PC1):c.822T>C (p.Ala274=)
NM_000151.4(G6PC1):c.82G>A (p.Asp28Asn)
NM_000151.4(G6PC1):c.858del (p.Lys287fs) rs1057516858
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.888C>G (p.Leu296=) rs1266860369
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.922G>A (p.Val308Ile) rs774448424
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.952_953insGT (p.Val318fs) rs1555560185
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.965T>A (p.Phe322Tyr) rs863224022
NM_000151.4(G6PC1):c.969C>A (p.Tyr323Ter) rs780226142
NM_000151.4(G6PC1):c.969C>T (p.Tyr323=)
NM_000151.4(G6PC1):c.980_982del (p.Phe327del) rs80356486
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.*128T>C rs886053549
NM_000152.5(GAA):c.*139dup rs865903736
NM_000152.5(GAA):c.*163G>T
NM_000152.5(GAA):c.*219G>A
NM_000152.5(GAA):c.*223C>T rs8132
NM_000152.5(GAA):c.*264G>A
NM_000152.5(GAA):c.*288G>T rs568131293
NM_000152.5(GAA):c.*2C>T
NM_000152.5(GAA):c.*309C>T rs886053550
NM_000152.5(GAA):c.*310C>T
NM_000152.5(GAA):c.*313C>G
NM_000152.5(GAA):c.*3G>A rs1800317
NM_000152.5(GAA):c.*419G>T rs7567
NM_000152.5(GAA):c.*443G>A rs147801821
NM_000152.5(GAA):c.*521A>G rs142506588
NM_000152.5(GAA):c.*64G>T
NM_000152.5(GAA):c.*66G>A
NM_000152.5(GAA):c.*82C>T
NM_000152.5(GAA):c.*91G>A rs2229221
NM_000152.5(GAA):c.*98A>T rs886053548
NM_000152.5(GAA):c.-178G>A rs77514632
NM_000152.5(GAA):c.-236C>T rs886053541
NM_000152.5(GAA):c.-260G>C rs2304849
NM_000152.5(GAA):c.-312C>T rs574326920
NM_000152.5(GAA):c.-32-13T>C
NM_000152.5(GAA):c.-32-13T>G rs386834236
NM_000152.5(GAA):c.-32-1G>C rs1555598460
NM_000152.5(GAA):c.-32-2A>G
NM_000152.5(GAA):c.-32-3C>A rs1055945806
NM_000152.5(GAA):c.-325C>T
NM_000152.5(GAA):c.-338C>G rs144639114
NM_000152.5(GAA):c.-62A>C rs367731841
NM_000152.5(GAA):c.-75C>G
NM_000152.5(GAA):c.1000G>A (p.Gly334Ser)
NM_000152.5(GAA):c.1001G>A (p.Gly334Asp)
NM_000152.5(GAA):c.1003G>A (p.Gly335Arg)
NM_000152.5(GAA):c.1004G>A (p.Gly335Glu) rs730880022
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.1030_1031del (p.Gly344fs) rs1567829962
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.1062C>A (p.Tyr354Ter) rs1064796703
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+12T>G rs370842677
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.1076-15G>C
NM_000152.5(GAA):c.1076-1G>A rs1555600050
NM_000152.5(GAA):c.1076-22T>G rs762260678
NM_000152.5(GAA):c.1076-2A>G rs1057516290
NM_000152.5(GAA):c.1076-4G>T
NM_000152.5(GAA):c.1080C>T (p.Tyr360=)
NM_000152.5(GAA):c.1082C>G (p.Pro361Arg) rs755253527
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.1099del (p.Trp367fs) rs1057516785
NM_000152.5(GAA):c.109C>G (p.Leu37Val) rs369775994
NM_000152.5(GAA):c.1100G>A (p.Trp367Ter)
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.1115A>T (p.His372Leu) rs1057516520
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>A (p.Gly377Ser) rs752002666
NM_000152.5(GAA):c.1129G>C (p.Gly377Arg) rs752002666
NM_000152.5(GAA):c.1129G>T (p.Gly377Cys)
NM_000152.5(GAA):c.1130del (p.Gly377fs) rs754134578
NM_000152.5(GAA):c.1132_1136delinsGGCTA (p.Tyr378_Ser379delinsGlyTyr) rs1598577393
NM_000152.5(GAA):c.1133A>G (p.Tyr378Cys)
NM_000152.5(GAA):c.1134C>A (p.Tyr378Ter)
NM_000152.5(GAA):c.1134C>G (p.Tyr378Ter) rs1567830317
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.1153del (p.Arg385fs) rs1555600102
NM_000152.5(GAA):c.1155C>T (p.Arg385=)
NM_000152.5(GAA):c.1156C>T (p.Gln386Ter) rs786204517
NM_000152.5(GAA):c.115C>A (p.Pro39Thr)
NM_000152.5(GAA):c.1165G>A (p.Glu389Lys)
NM_000152.5(GAA):c.1165del (p.Glu389fs) rs1555600111
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.1192dup (p.Leu398fs) rs1057516546
NM_000152.5(GAA):c.1193T>C (p.Leu398Pro) rs1598577666
NM_000152.5(GAA):c.1193del (p.Leu398fs) rs1057517286
NM_000152.5(GAA):c.1194+2T>C rs1057516215
NM_000152.5(GAA):c.1194+3G>C rs368539333
NM_000152.5(GAA):c.1194+5G>A
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.1195-19_2190-17del
NM_000152.5(GAA):c.1195-1G>A rs1555600166
NM_000152.5(GAA):c.1195-2A>C
NM_000152.5(GAA):c.1195-2A>G
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.1216G>A (p.Asp406Asn) rs1555600179
NM_000152.5(GAA):c.1218C>T (p.Asp406=)
NM_000152.5(GAA):c.1222A>G (p.Met408Val) rs560575383
NM_000152.5(GAA):c.1225dup (p.Asp409fs)
NM_000152.5(GAA):c.1226_1227insG (p.Asp409fs) rs1598578030
NM_000152.5(GAA):c.1228T>C (p.Ser410Pro)
NM_000152.5(GAA):c.1229C>T (p.Ser410Phe) rs777431563
NM_000152.5(GAA):c.1231C>T (p.Arg411Trp)
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.1242_1244del (p.Phe414_Thr415delinsLeu) rs1555600194
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.1280T>C (p.Met427Thr) rs1555600212
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>C (p.Met440Ile) rs550837627
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+1G>A rs1205507761
NM_000152.5(GAA):c.1326+2T>C rs1434761678
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.1327-2A>G
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.1336A>G (p.Ile446Val)
NM_000152.5(GAA):c.1336_1356dup (p.Ile446_Ala452dup) rs1555600488
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.1356del (p.Ser454fs)
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.1398_1400dup (p.Phe467dup)
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.1408_1410del (p.Asn470del)
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.1427T>C (p.Leu476Pro)
NM_000152.5(GAA):c.1431T>G (p.Ile477Met) rs1598580369
NM_000152.5(GAA):c.1431del (p.Ile477fs) rs1598580364
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+1G>A rs1555600575
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.1437G>A (p.Lys479=) rs796051877
NM_000152.5(GAA):c.1438-108G>A
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.1441del (p.Trp481fs)
NM_000152.5(GAA):c.1443G>A (p.Trp481Ter)
NM_000152.5(GAA):c.1445C>G (p.Pro482Arg)
NM_000152.5(GAA):c.1445C>T (p.Pro482Leu)
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.1448G>T (p.Gly483Val)
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.148_859-11del
NM_000152.5(GAA):c.1491C>T (p.Ala497=) rs373993015
NM_000152.5(GAA):c.1496G>A (p.Trp499Ter) rs766680292
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.1538A>G (p.Asp513Gly) rs1598581682
NM_000152.5(GAA):c.1539C>T (p.Asp513=)
NM_000152.5(GAA):c.1540G>A (p.Gly514Ser)
NM_000152.5(GAA):c.1547G>A (p.Trp516Ter)
NM_000152.5(GAA):c.1548G>A (p.Trp516Ter) rs140826989
NM_000152.5(GAA):c.1551+10G>T
NM_000152.5(GAA):c.1551+1G>A
NM_000152.5(GAA):c.1551+1G>C rs770780848
NM_000152.5(GAA):c.1551+1G>T rs770780848
NM_000152.5(GAA):c.1551+49C>A rs2304843
NM_000152.5(GAA):c.1551+5G>A
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.1552-14C>T rs199715011
NM_000152.5(GAA):c.1552-14_1552-1del rs1567833173
NM_000152.5(GAA):c.1552-2A>G rs1555600846
NM_000152.5(GAA):c.1552-3C>G rs375470378
NM_000152.5(GAA):c.1552-8T>C
NM_000152.5(GAA):c.1553_1555dup (p.Met519_Asn520insAsn)
NM_000152.5(GAA):c.1554C>T (p.Asp518=)
NM_000152.5(GAA):c.1555A>G (p.Met519Val)
NM_000152.5(GAA):c.1556T>C (p.Met519Thr) rs786204720
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.1561G>A (p.Glu521Lys) rs121907937
NM_000152.5(GAA):c.1562A>T (p.Glu521Val)
NM_000152.5(GAA):c.1564C>G (p.Pro522Ala) rs892129065
NM_000152.5(GAA):c.1564C>T (p.Pro522Ser)
NM_000152.5(GAA):c.1567del (p.Ser523fs) rs1057517267
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.1634C>T (p.Pro545Leu) rs121907942
NM_000152.5(GAA):c.1636+10C>A
NM_000152.5(GAA):c.1636+15dup
NM_000152.5(GAA):c.1636+460_2672del
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.1637-185A>G
NM_000152.5(GAA):c.1637-9C>T
NM_000152.5(GAA):c.1638G>A (p.Gly546=)
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.1654del (p.Leu552fs)
NM_000152.5(GAA):c.1655T>C (p.Leu552Pro) rs779556619
NM_000152.5(GAA):c.1656C>A (p.Leu552=)
NM_000152.5(GAA):c.1657C>T (p.Gln553Ter)
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.1687C>T (p.Gln563Ter) rs1057516426
NM_000152.5(GAA):c.1692T>G (p.Phe564Leu) rs886043997
NM_000152.5(GAA):c.1692del (p.Leu565fs) rs1555601234
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>G (p.His568Gln)
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>G (p.His572Gln)
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>A (p.Tyr575Ter)
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+104C>G
NM_000152.5(GAA):c.1754+12G>A rs2304840
NM_000152.5(GAA):c.1754+144C>T
NM_000152.5(GAA):c.1754+1G>A rs886043399
NM_000152.5(GAA):c.1754+1_1754+7del
NM_000152.5(GAA):c.1754+21C>T rs373387713
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.1772G>A (p.Arg591Gln)
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.1784C>T (p.Pro595Leu) rs763772240
NM_000152.5(GAA):c.1794C>G (p.Ile598Met)
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>G (p.Ser601Trp) 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.1804A>G (p.Thr602Ala)
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.1819_1836dup (p.Gly607_His612dup) rs1555601409
NM_000152.5(GAA):c.1820G>A (p.Gly607Asp)
NM_000152.5(GAA):c.1822C>T (p.Arg608Ter)
NM_000152.5(GAA):c.1823G>A (p.Arg608Gln) rs377126280
NM_000152.5(GAA):c.1824_1828dup (p.Ala610fs) rs1057516826
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.1836C>G (p.His612Gln)
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>A (p.Gly615Glu)
NM_000152.5(GAA):c.1844G>T (p.Gly615Val)
NM_000152.5(GAA):c.1847dup (p.Asp616fs) rs1475559733
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+21G>A rs2304837
NM_000152.5(GAA):c.1888+49_1888+72del rs1555601511
NM_000152.5(GAA):c.1888+51_1888+74del rs1555601512
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.1895T>G (p.Leu632Arg) rs1598585402
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>A (p.Asn635Lys) rs1414146587
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.1910_1918del (p.Leu637_Val639del)
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.1933G>T (p.Asp645Tyr) 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>A (p.Gly648Asp)
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.1951_1952delinsT (p.Gly651fs) rs1567835781
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.1961C>A (p.Ser654Ter) rs1057518106
NM_000152.5(GAA):c.1962_1964del (p.Glu656del)
NM_000152.5(GAA):c.196C>T (p.Arg66Trp)
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