ClinVar Miner

List of variants in gene GCH1 studied for Dystonia 5; GTP cyclohydrolase I deficiency

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Gene type:
ClinVar version:
Total variants: 340
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HGVS dbSNP gnomAD frequency
NM_000161.3(GCH1):c.*243C>T rs841 0.22091
NM_000161.3(GCH1):c.509+15G>A rs116688703 0.00856
NM_000161.3(GCH1):c.211C>T (p.Leu71=) rs141883031 0.00218
NM_000161.3(GCH1):c.671A>G (p.Lys224Arg) rs41298442 0.00037
NM_000161.3(GCH1):c.206C>T (p.Pro69Leu) rs56127440 0.00035
NM_000161.3(GCH1):c.507G>A (p.Ala169=) rs150158277 0.00029
NM_000161.3(GCH1):c.610G>A (p.Val204Ile) rs200891969 0.00013
NM_000161.3(GCH1):c.453+6G>A rs766668821 0.00012
NM_000161.3(GCH1):c.145C>G (p.Pro49Ala) rs573085618 0.00009
NM_000161.3(GCH1):c.593G>A (p.Arg198Gln) rs201238926 0.00009
NM_000161.3(GCH1):c.147C>G (p.Pro49=) rs377631489 0.00008
NM_000161.3(GCH1):c.354C>T (p.Asn118=) rs779337121 0.00008
NM_000161.3(GCH1):c.225C>T (p.Tyr75=) rs961694546 0.00007
NM_000161.3(GCH1):c.297C>T (p.Ala99=) rs776450369 0.00007
NM_000161.3(GCH1):c.328C>G (p.Gln110Glu) rs748944982 0.00007
NM_000161.3(GCH1):c.509+3A>G rs369661042 0.00007
NM_000161.3(GCH1):c.582G>A (p.Thr194=) rs199836777 0.00006
NM_000161.3(GCH1):c.343+3C>T rs781034069 0.00005
NM_000161.3(GCH1):c.454-16C>T rs574131336 0.00005
NM_000161.3(GCH1):c.543T>G (p.Val181=) rs765670568 0.00005
NM_000161.3(GCH1):c.509+19T>C rs374420051 0.00004
NM_000161.3(GCH1):c.510-19A>T rs778122258 0.00004
NM_000161.3(GCH1):c.642A>G (p.Val214=) rs757872064 0.00004
NM_000161.3(GCH1):c.239G>A (p.Ser80Asn) rs770547722 0.00003
NM_000161.3(GCH1):c.324C>T (p.Gly108=) rs772386583 0.00003
NM_000161.3(GCH1):c.343+8C>A rs370233441 0.00003
NM_000161.3(GCH1):c.348C>T (p.Val116=) rs1212537614 0.00003
NM_000161.3(GCH1):c.454-15G>A rs559391590 0.00003
NM_000161.3(GCH1):c.509+8T>A rs753570450 0.00003
NM_000161.3(GCH1):c.542-18T>A rs1362048177 0.00003
NM_000161.3(GCH1):c.542-19C>T rs201405174 0.00003
NM_000161.3(GCH1):c.626+7C>G rs367921543 0.00003
NM_000161.3(GCH1):c.141G>A (p.Ala47=) rs1440497493 0.00002
NM_000161.3(GCH1):c.193G>C (p.Glu65Gln) rs1281386674 0.00002
NM_000161.3(GCH1):c.195G>A (p.Glu65=) rs139350456 0.00002
NM_000161.3(GCH1):c.299C>T (p.Ser100Leu) rs527416949 0.00002
NM_000161.3(GCH1):c.343+7G>A rs754924703 0.00002
NM_000161.3(GCH1):c.435G>A (p.Leu145=) rs763677193 0.00002
NM_000161.3(GCH1):c.542-12T>C rs554517901 0.00002
NM_000161.3(GCH1):c.651T>C (p.Gly217=) rs1443039760 0.00002
NM_000161.3(GCH1):c.662T>C (p.Met221Thr) rs104894434 0.00002
NM_000161.3(GCH1):c.737C>T (p.Thr246Ile) rs989328098 0.00002
NM_000161.3(GCH1):c.140C>T (p.Ala47Val) rs2040584415 0.00001
NM_000161.3(GCH1):c.150G>A (p.Ala50=) rs1001181151 0.00001
NM_000161.3(GCH1):c.153C>T (p.Asp51=) rs745516526 0.00001
NM_000161.3(GCH1):c.165C>T (p.Gly55=) rs2040583785 0.00001
NM_000161.3(GCH1):c.170G>A (p.Arg57Gln) rs756782285 0.00001
NM_000161.3(GCH1):c.183G>A (p.Glu61=) rs1396115931 0.00001
NM_000161.3(GCH1):c.187G>A (p.Asp63Asn) rs1404198001 0.00001
NM_000161.3(GCH1):c.196C>T (p.Leu66=) rs1352015026 0.00001
NM_000161.3(GCH1):c.202C>T (p.Leu68Phe) rs2040582582 0.00001
NM_000161.3(GCH1):c.204C>T (p.Leu68=) rs557778839 0.00001
NM_000161.3(GCH1):c.234C>T (p.Ile78=) rs747393714 0.00001
NM_000161.3(GCH1):c.235C>T (p.Leu79=) rs778469112 0.00001
NM_000161.3(GCH1):c.243G>T (p.Ser81=) rs557028351 0.00001
NM_000161.3(GCH1):c.250G>C (p.Glu84Gln) rs755556239 0.00001
NM_000161.3(GCH1):c.274C>A (p.Leu92Ile) rs763294577 0.00001
NM_000161.3(GCH1):c.294G>T (p.Ala98=) rs765416856 0.00001
NM_000161.3(GCH1):c.300G>A (p.Ser100=) rs777068790 0.00001
NM_000161.3(GCH1):c.303C>T (p.Ala101=) rs769173973 0.00001
NM_000161.3(GCH1):c.327C>T (p.Tyr109=) rs2504538966 0.00001
NM_000161.3(GCH1):c.334A>G (p.Thr112Ala) rs199990434 0.00001
NM_000161.3(GCH1):c.343+13G>T rs1180658057 0.00001
NM_000161.3(GCH1):c.343+7G>T rs754924703 0.00001
NM_000161.3(GCH1):c.343+9G>C rs1340383628 0.00001
NM_000161.3(GCH1):c.344-15A>G rs1181987843 0.00001
NM_000161.3(GCH1):c.360T>A (p.Ala120=) rs753942108 0.00001
NM_000161.3(GCH1):c.361A>G (p.Ile121Val) rs1447471890 0.00001
NM_000161.3(GCH1):c.394G>A (p.Val132Met) rs1359856164 0.00001
NM_000161.3(GCH1):c.408C>T (p.Asp136=) rs753357224 0.00001
NM_000161.3(GCH1):c.460A>G (p.Ile154Val) rs373220294 0.00001
NM_000161.3(GCH1):c.486C>A (p.Val162=) rs768067517 0.00001
NM_000161.3(GCH1):c.498C>T (p.Ser166=) rs2039865915 0.00001
NM_000161.3(GCH1):c.509+12T>A rs760292517 0.00001
NM_000161.3(GCH1):c.509+12T>C rs760292517 0.00001
NM_000161.3(GCH1):c.509+9G>T rs763653126 0.00001
NM_000161.3(GCH1):c.510-14T>A rs748309367 0.00001
NM_000161.3(GCH1):c.510-18C>T rs769892908 0.00001
NM_000161.3(GCH1):c.510-8T>C rs2140043752 0.00001
NM_000161.3(GCH1):c.524A>T (p.Tyr175Phe) rs781250171 0.00001
NM_000161.3(GCH1):c.525T>C (p.Tyr175=) rs1193973965 0.00001
NM_000161.3(GCH1):c.541+15T>C rs780398294 0.00001
NM_000161.3(GCH1):c.542-9C>T rs1302065632 0.00001
NM_000161.3(GCH1):c.549G>A (p.Glu183=) rs2039635227 0.00001
NM_000161.3(GCH1):c.571G>A (p.Val191Ile) rs762208304 0.00001
NM_000161.3(GCH1):c.573A>G (p.Val191=) rs1357043572 0.00001
NM_000161.3(GCH1):c.581C>T (p.Thr194Met) rs1008663334 0.00001
NM_000161.3(GCH1):c.592C>A (p.Arg198=) rs752447862 0.00001
NM_000161.3(GCH1):c.606C>T (p.Val202=) rs1171007081 0.00001
NM_000161.3(GCH1):c.626+18T>A rs747199590 0.00001
NM_000161.3(GCH1):c.626+20T>C rs775439923 0.00001
NM_000161.3(GCH1):c.626+2dup rs1474519447 0.00001
NM_000161.3(GCH1):c.691T>C (p.Leu231=) rs915108762 0.00001
NM_000161.3(GCH1):c.722G>A (p.Arg241Gln) rs775733967 0.00001
NM_000161.3(GCH1):c.752G>A (p.Ter251=) rs201255606 0.00001
NC_000014.8:g.(?_55310492)_(55332164_?)dup
NC_000014.8:g.(?_55310735)_(55312590_?)dup
NC_000014.8:g.(?_55310735)_(55313868_?)del
NC_000014.8:g.(?_55310735)_(55326474_?)del
NC_000014.8:g.(?_55310735)_(55369403_?)del
NC_000014.8:g.(?_55312466)_(55313868_?)del
NC_000014.8:g.(?_55313807)_(55313858_?)del
NC_000014.8:g.(?_55326379)_(55332174_?)dup
NC_000014.8:g.(?_55332039)_(55369387_?)del
NC_000014.8:g.(?_55369019)_(55369381_?)del
NC_000014.9:g.(?_54859671)_(54865446_?)del
NC_000014.9:g.(?_54865307)_(54865456_?)del
NC_000014.9:g.(?_54865317)_(54865446_?)del
NC_000014.9:g.(?_54902311)_(54902702_?)del
NM_000161.3(GCH1):c.126C>A (p.Pro42=) rs2140127497
NM_000161.3(GCH1):c.126C>T (p.Pro42=) rs2140127497
NM_000161.3(GCH1):c.127_130dup (p.Ala44fs) rs1595031524
NM_000161.3(GCH1):c.137G>A (p.Ser46Asn) rs2504540653
NM_000161.3(GCH1):c.138C>A (p.Ser46Arg) rs1239964950
NM_000161.3(GCH1):c.140C>A (p.Ala47Glu) rs2040584415
NM_000161.3(GCH1):c.141G>T (p.Ala47=) rs1440497493
NM_000161.3(GCH1):c.142C>T (p.Gln48Ter) rs104894444
NM_000161.3(GCH1):c.145C>T (p.Pro49Ser) rs573085618
NM_000161.3(GCH1):c.146C>A (p.Pro49His)
NM_000161.3(GCH1):c.153C>A (p.Asp51Glu) rs745516526
NM_000161.3(GCH1):c.154G>A (p.Gly52Ser) rs375788167
NM_000161.3(GCH1):c.154G>C (p.Gly52Arg)
NM_000161.3(GCH1):c.154G>T (p.Gly52Cys) rs375788167
NM_000161.3(GCH1):c.156C>T (p.Gly52=) rs2504540466
NM_000161.3(GCH1):c.158G>A (p.Trp53Ter) rs2140127425
NM_000161.3(GCH1):c.158G>T (p.Trp53Leu)
NM_000161.3(GCH1):c.162G>A (p.Lys54=) rs2504540429
NM_000161.3(GCH1):c.163G>A (p.Gly55Ser) rs2140127419
NM_000161.3(GCH1):c.164G>A (p.Gly55Asp) rs1464045587
NM_000161.3(GCH1):c.168G>A (p.Glu56=) rs2140127407
NM_000161.3(GCH1):c.172C>T (p.Pro58Ser) rs2040583643
NM_000161.3(GCH1):c.174C>T (p.Pro58=) rs2504540310
NM_000161.3(GCH1):c.175C>G (p.Arg59Gly) rs753312849
NM_000161.3(GCH1):c.185del (p.Glu62fs) rs2504540200
NM_000161.3(GCH1):c.186G>A (p.Glu62=) rs752590798
NM_000161.3(GCH1):c.186G>T (p.Glu62Asp) rs752590798
NM_000161.3(GCH1):c.186_197delinsA (p.Asp63fs) rs1555362845
NM_000161.3(GCH1):c.192C>T (p.Asn64=) rs1486693649
NM_000161.3(GCH1):c.194A>T (p.Glu65Val) rs2140127337
NM_000161.3(GCH1):c.197T>C (p.Leu66Pro) rs1042390728
NM_000161.3(GCH1):c.198G>C (p.Leu66=) rs2504540062
NM_000161.3(GCH1):c.212T>C (p.Leu71Pro) rs1555362843
NM_000161.3(GCH1):c.212del (p.Leu71fs) rs2140127278
NM_000161.3(GCH1):c.215C>G (p.Ala72Gly) rs2504539859
NM_000161.3(GCH1):c.220_223del (p.Ala74fs) rs1566687321
NM_000161.3(GCH1):c.229_246del (p.Ser77_Leu82del) rs2140127202
NM_000161.3(GCH1):c.230C>G (p.Ser77Cys) rs748666093
NM_000161.3(GCH1):c.233del (p.Ile78fs) rs61762303
NM_000161.3(GCH1):c.238A>T (p.Ser80Cys) rs2140127221
NM_000161.3(GCH1):c.241T>C (p.Ser81Pro) rs2140127208
NM_000161.3(GCH1):c.242C>A (p.Ser81Ter)
NM_000161.3(GCH1):c.246G>A (p.Leu82=)
NM_000161.3(GCH1):c.246G>C (p.Leu82=) rs2504539581
NM_000161.3(GCH1):c.248dup (p.Glu84fs) rs1595031221
NM_000161.3(GCH1):c.249C>T (p.Gly83=)
NM_000161.3(GCH1):c.250G>T (p.Glu84Ter) rs755556239
NM_000161.3(GCH1):c.251A>G (p.Glu84Gly) rs1595031209
NM_000161.3(GCH1):c.252G>A (p.Glu84=) rs1263510185
NM_000161.3(GCH1):c.255C>T (p.Asn85=) rs752645828
NM_000161.3(GCH1):c.257C>G (p.Pro86Arg) rs1555362836
NM_000161.3(GCH1):c.258C>T (p.Pro86=)
NM_000161.3(GCH1):c.260A>C (p.Gln87Pro) rs1595031190
NM_000161.3(GCH1):c.261G>T (p.Gln87His) rs2504539417
NM_000161.3(GCH1):c.266A>G (p.Gln89Arg) rs2140127145
NM_000161.3(GCH1):c.268G>A (p.Gly90Arg) rs2504539350
NM_000161.3(GCH1):c.270G>A (p.Gly90=) rs2040580937
NM_000161.3(GCH1):c.272T>A (p.Leu91Gln) rs2504539343
NM_000161.3(GCH1):c.273G>A (p.Leu91=) rs2504539331
NM_000161.3(GCH1):c.274C>T (p.Leu92Phe) rs763294577
NM_000161.3(GCH1):c.278A>G (p.Lys93Arg)
NM_000161.3(GCH1):c.278dup (p.Thr94fs) rs1555362835
NM_000161.3(GCH1):c.279G>T (p.Lys93Asn) rs2040580789
NM_000161.3(GCH1):c.280A>G (p.Thr94Ala) rs2504539278
NM_000161.3(GCH1):c.281C>A (p.Thr94Lys) rs1566687244
NM_000161.3(GCH1):c.281C>T (p.Thr94Met) rs1566687244
NM_000161.3(GCH1):c.289A>T (p.Arg97Trp) rs2140127094
NM_000161.3(GCH1):c.293C>T (p.Ala98Val) rs2040580445
NM_000161.3(GCH1):c.295G>C (p.Ala99Pro) rs1566687219
NM_000161.3(GCH1):c.298T>C (p.Ser100Pro) rs2504539183
NM_000161.3(GCH1):c.300G>C (p.Ser100=) rs777068790
NM_000161.3(GCH1):c.305T>C (p.Met102Thr) rs2140127042
NM_000161.3(GCH1):c.307C>T (p.Gln103Ter) rs2504539104
NM_000161.3(GCH1):c.308A>G (p.Gln103Arg)
NM_000161.3(GCH1):c.309del (p.Gln103fs)
NM_000161.3(GCH1):c.321G>C (p.Lys107Asn) rs1375057499
NM_000161.3(GCH1):c.322G>A (p.Gly108Ser) rs2140127010
NM_000161.3(GCH1):c.323G>A (p.Gly108Asp) rs104894435
NM_000161.3(GCH1):c.324C>A (p.Gly108=) rs772386583
NM_000161.3(GCH1):c.333G>A (p.Glu111=)
NM_000161.3(GCH1):c.343+10C>T rs1227665541
NM_000161.3(GCH1):c.343+11C>T rs954395660
NM_000161.3(GCH1):c.343+12C>A
NM_000161.3(GCH1):c.343+12C>G rs780031153
NM_000161.3(GCH1):c.343+12dup rs759191308
NM_000161.3(GCH1):c.343+14C>G rs2040578952
NM_000161.3(GCH1):c.343+14_343+15del rs2040578915
NM_000161.3(GCH1):c.343+16G>A rs758205935
NM_000161.3(GCH1):c.343+17G>A rs2504538675
NM_000161.3(GCH1):c.343+9G>T rs1340383628
NM_000161.3(GCH1):c.344-14G>C rs2504412747
NM_000161.3(GCH1):c.344-1G>A rs1555360050
NM_000161.3(GCH1):c.344-1G>C rs1555360050
NM_000161.3(GCH1):c.344-3C>G rs2039977194
NM_000161.3(GCH1):c.344-9del rs2504412734
NM_000161.3(GCH1):c.349C>T (p.Leu117=) rs1348102212
NM_000161.3(GCH1):c.351A>C (p.Leu117=) rs2504412650
NM_000161.3(GCH1):c.355G>A (p.Asp119Asn) rs1221794990
NM_000161.3(GCH1):c.366T>G (p.Phe122Leu) rs2140074154
NM_000161.3(GCH1):c.367G>A (p.Asp123Asn) rs2140074143
NM_000161.3(GCH1):c.369T>C (p.Asp123=) rs2504412549
NM_000161.3(GCH1):c.369T>G (p.Asp123Glu)
NM_000161.3(GCH1):c.390G>A (p.Val130=)
NM_000161.3(GCH1):c.395T>C (p.Val132Ala) rs1555360034
NM_000161.3(GCH1):c.395_396del (p.Val132fs) rs2140074097
NM_000161.3(GCH1):c.400G>A (p.Asp134Asn) rs1353623780
NM_000161.3(GCH1):c.416C>T (p.Ser139Phe) rs144542994
NM_000161.3(GCH1):c.418A>G (p.Met140Val) rs2504412325
NM_000161.3(GCH1):c.420G>A (p.Met140Ile) rs1360081603
NM_000161.3(GCH1):c.423T>G (p.Cys141Trp) rs2140074056
NM_000161.3(GCH1):c.432C>T (p.His144=) rs2039976135
NM_000161.3(GCH1):c.435G>T (p.Leu145Phe) rs763677193
NM_000161.3(GCH1):c.439C>A (p.Pro147Thr) rs867158370
NM_000161.3(GCH1):c.440C>T (p.Pro147Leu) rs1594989087
NM_000161.3(GCH1):c.440_453+9dup rs770766855
NM_000161.3(GCH1):c.452A>G (p.Lys151Arg) rs2140073994
NM_000161.3(GCH1):c.453+11C>G rs761527210
NM_000161.3(GCH1):c.453+14T>C rs2504412070
NM_000161.3(GCH1):c.453+15G>T
NM_000161.3(GCH1):c.453+16T>C rs1435100229
NM_000161.3(GCH1):c.453+1G>A rs2140073990
NM_000161.3(GCH1):c.453+1G>C rs2140073990
NM_000161.3(GCH1):c.453+2T>G rs2140073988
NM_000161.3(GCH1):c.453+6G>T rs766668821
NM_000161.3(GCH1):c.454-11C>T rs2504390810
NM_000161.3(GCH1):c.454-13C>G rs2504390827
NM_000161.3(GCH1):c.458A>G (p.His153Arg) rs2504390690
NM_000161.3(GCH1):c.462T>G (p.Ile154Met) rs1566665914
NM_000161.3(GCH1):c.473del (p.Pro158fs) rs2039866628
NM_000161.3(GCH1):c.474T>C (p.Pro158=) rs752768323
NM_000161.3(GCH1):c.476A>G (p.Asn159Ser) rs2504390607
NM_000161.3(GCH1):c.480G>A (p.Lys160=) rs1486750298
NM_000161.3(GCH1):c.491G>C (p.Gly164Ala) rs2504390482
NM_000161.3(GCH1):c.493C>T (p.Leu165Phe) rs755485677
NM_000161.3(GCH1):c.506C>G (p.Ala169Gly) rs1362858344
NM_000161.3(GCH1):c.507G>C (p.Ala169=) rs150158277
NM_000161.3(GCH1):c.508A>G (p.Arg170Gly) rs2039865673
NM_000161.3(GCH1):c.509+14T>C rs925038391
NM_000161.3(GCH1):c.509+16C>T rs1167656938
NM_000161.3(GCH1):c.509+1_509+3delinsTGTGAG rs1594982939
NM_000161.3(GCH1):c.509+20G>C rs2039865201
NM_000161.3(GCH1):c.509+2T>A
NM_000161.3(GCH1):c.509+6T>C rs2140063307
NM_000161.3(GCH1):c.509+9G>A rs763653126
NM_000161.3(GCH1):c.510-13C>A rs1172601960
NM_000161.3(GCH1):c.510-13C>G rs1172601960
NM_000161.3(GCH1):c.510-19A>G rs778122258
NM_000161.3(GCH1):c.510-1G>A rs1555358604
NM_000161.3(GCH1):c.510-9C>G rs1432670962
NM_000161.3(GCH1):c.514G>C (p.Val172Leu)
NM_000161.3(GCH1):c.514G>T (p.Val172Leu) rs1566660315
NM_000161.3(GCH1):c.532A>G (p.Arg178Gly) rs1594971274
NM_000161.3(GCH1):c.532A>T (p.Arg178Ter) rs1594971274
NM_000161.3(GCH1):c.532_537del (p.Arg178_Leu179del) rs2039654207
NM_000161.3(GCH1):c.533G>A (p.Arg178Lys)
NM_000161.3(GCH1):c.539A>G (p.Gln180Arg) rs1566660298
NM_000161.3(GCH1):c.541+10A>G rs2504348315
NM_000161.3(GCH1):c.541+1G>C rs1555358599
NM_000161.3(GCH1):c.541+1G>T rs1555358599
NM_000161.3(GCH1):c.541G>A (p.Val181Ile) rs2504348355
NM_000161.3(GCH1):c.542-13A>G rs769562483
NM_000161.3(GCH1):c.542-20G>A rs2504343833
NM_000161.3(GCH1):c.542-5C>G
NM_000161.3(GCH1):c.550C>T (p.Arg184Cys) rs2140041841
NM_000161.3(GCH1):c.551G>A (p.Arg184His) rs104894445
NM_000161.3(GCH1):c.555T>C (p.Leu185=)
NM_000161.3(GCH1):c.567T>C (p.Ile189=)
NM_000161.3(GCH1):c.575C>T (p.Ala192Val) rs2504343337
NM_000161.3(GCH1):c.578T>A (p.Ile193Asn) rs2140041744
NM_000161.3(GCH1):c.578_583del (p.Ile193_Glu195delinsLys) rs2140041733
NM_000161.3(GCH1):c.591G>C (p.Leu197Phe) rs2504343201
NM_000161.3(GCH1):c.592C>T (p.Arg198Trp) rs752447862
NM_000161.3(GCH1):c.594G>A (p.Arg198=)
NM_000161.3(GCH1):c.594G>T (p.Arg198=) rs754602206
NM_000161.3(GCH1):c.596C>T (p.Pro199Leu) rs2140041686
NM_000161.3(GCH1):c.599C>G (p.Ala200Gly) rs2140041678
NM_000161.3(GCH1):c.601G>C (p.Gly201Arg) rs2140041673
NM_000161.3(GCH1):c.607G>A (p.Gly203Arg) rs988395114
NM_000161.3(GCH1):c.614T>A (p.Val205Glu) rs1418922853
NM_000161.3(GCH1):c.615G>A (p.Val205=) rs762802357
NM_000161.3(GCH1):c.617T>C (p.Val206Ala) rs773159175
NM_000161.3(GCH1):c.621A>T (p.Glu207Asp) rs2140041594
NM_000161.3(GCH1):c.626+17C>G rs2140041535
NM_000161.3(GCH1):c.626+1G>A rs1555358507
NM_000161.3(GCH1):c.626+1G>T rs1555358507
NM_000161.3(GCH1):c.626+2T>C rs2504342839
NM_000161.3(GCH1):c.626+5G>A rs1594970015
NM_000161.3(GCH1):c.626+5G>C rs1594970015
NM_000161.3(GCH1):c.626+6T>G rs2504342804
NM_000161.3(GCH1):c.626+7C>T rs367921543
NM_000161.3(GCH1):c.626+9G>C rs374007793
NM_000161.3(GCH1):c.626+9G>T rs374007793
NM_000161.3(GCH1):c.626C>T (p.Thr209Ile) rs141634133
NM_000161.3(GCH1):c.627-10del rs2504337034
NM_000161.3(GCH1):c.627-14_627-10del rs2504337042
NM_000161.3(GCH1):c.627-19G>T rs1252697277
NM_000161.3(GCH1):c.627-20T>C
NM_000161.3(GCH1):c.627-2A>G rs2504336988
NM_000161.3(GCH1):c.627-9_627-7del rs2504337027
NM_000161.3(GCH1):c.631A>G (p.Met211Val) rs2140038951
NM_000161.3(GCH1):c.631_632del (p.Met211fs) rs886039379
NM_000161.3(GCH1):c.634T>C (p.Cys212Arg) rs2039604113
NM_000161.3(GCH1):c.635G>A (p.Cys212Tyr) rs2504336908
NM_000161.3(GCH1):c.641T>C (p.Val214Ala) rs2140038925
NM_000161.3(GCH1):c.646C>T (p.Arg216Ter) rs41298440
NM_000161.3(GCH1):c.647G>C (p.Arg216Pro) rs2039603118
NM_000161.3(GCH1):c.650G>T (p.Gly217Val) rs2039603046
NM_000161.3(GCH1):c.661A>G (p.Met221Val) rs2504336720
NM_000161.3(GCH1):c.666C>T (p.Asn222=) rs773232145
NM_000161.3(GCH1):c.673del (p.Thr225fs) rs2140038846
NM_000161.3(GCH1):c.675T>A (p.Thr225=) rs2504336619
NM_000161.3(GCH1):c.676G>C (p.Val226Leu) rs2140038840
NM_000161.3(GCH1):c.687A>G (p.Thr229=) rs2504336538
NM_000161.3(GCH1):c.689T>C (p.Met230Thr) rs2140038798
NM_000161.3(GCH1):c.694G>C (p.Gly232Arg) rs2504336491
NM_000161.3(GCH1):c.695G>A (p.Gly232Asp) rs2140038792
NM_000161.3(GCH1):c.703C>T (p.Arg235Trp)
NM_000161.3(GCH1):c.705G>C (p.Arg235=) rs2504336444
NM_000161.3(GCH1):c.709G>A (p.Asp237Asn) rs2140038782
NM_000161.3(GCH1):c.712C>A (p.Pro238Thr) rs2140038781
NM_000161.3(GCH1):c.714A>T (p.Pro238=) rs2504336385
NM_000161.3(GCH1):c.721C>T (p.Arg241Trp) rs1375209791
NM_000161.3(GCH1):c.724G>T (p.Glu242Ter) rs1296731359
NM_000161.3(GCH1):c.732C>T (p.Phe244=) rs745929907
NM_000161.3(GCH1):c.745A>G (p.Arg249Gly) rs2039600745
NM_000161.3(GCH1):c.747G>T (p.Arg249Ser)
NM_000161.3(GCH1):c.747_748delinsCT (p.Arg249_Ser250delinsSerCys) rs2504336159
NM_000161.3(GCH1):c.750C>T (p.Ser250=) rs2039600418
NM_000161.3(GCH1):c.751T>C (p.Ter251Arg) rs2504336140
NM_000161.3(GCH1):c.753A>C (p.Ter251Cys) rs1555358379
NM_000161.3(GCH1):c.753A>G (p.Ter251Trp)

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