List of variants in gene DHDDS studied for retinitis pigmentosa

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 496

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HGVS	dbSNP	gnomAD frequency
NM_205861.3(DHDDS):c.*1886C>T	rs2290588	0.30150
NM_205861.3(DHDDS):c.757G>A (p.Val253Met)	rs3816539	0.30121
NM_024887.3(DHDDS):c.-150G>A	rs6656196	0.30080
NM_205861.3(DHDDS):c.*1300G>C	rs12096239	0.22507
NM_205861.3(DHDDS):c.*2032C>T	rs1055323	0.21078
NM_205861.3(DHDDS):c.*629C>T	rs2494394	0.04709
NM_024887.3(DHDDS):c.-119G>A	rs115681222	0.01071
NM_205861.3(DHDDS):c.*2045T>A	rs76326144	0.00381
NM_205861.3(DHDDS):c.*128C>G	rs146706631	0.00352
NM_205861.3(DHDDS):c.324-10C>T	rs144459149	0.00308
NM_205861.3(DHDDS):c.140G>A (p.Arg47Gln)	rs149949619	0.00274
NM_205861.3(DHDDS):c.*515G>T	rs747837144	0.00071
NM_205861.3(DHDDS):c.542+8G>A	rs149948788	0.00060
NM_205861.3(DHDDS):c.*480A>G	rs552046225	0.00056
NM_205861.3(DHDDS):c.*988C>T	rs762077449	0.00050
NM_205861.3(DHDDS):c.*1769G>A	rs74698108	0.00048
NM_205861.3(DHDDS):c.-53T>G	rs375098683	0.00043
NM_205861.3(DHDDS):c.912C>G (p.Ala304=)	rs747231238	0.00031
NM_205861.3(DHDDS):c.*2104A>T	rs182595109	0.00029
NM_205861.3(DHDDS):c.908C>T (p.Ser303Leu)	rs141852437	0.00024
NM_205861.3(DHDDS):c.*464T>C	rs567665048	0.00016
NM_205861.3(DHDDS):c.33T>C (p.Leu11=)	rs139193738	0.00016
NM_205861.3(DHDDS):c.564T>C (p.Leu188=)	rs371976956	0.00016
NM_205861.3(DHDDS):c.124A>G (p.Lys42Glu)	rs147394623	0.00015
NM_205861.3(DHDDS):c.990T>C (p.Thr330=)	rs773902080	0.00014
NM_205861.3(DHDDS):c.*737C>A	rs573311409	0.00013
NM_205861.3(DHDDS):c.387G>C (p.Leu129Phe)	rs372256981	0.00012
NM_205861.3(DHDDS):c.*1497C>T	rs766309543	0.00011
NM_205861.3(DHDDS):c.565G>A (p.Asp189Asn)	rs748833924	0.00011
NM_205861.3(DHDDS):c.*1705G>A	rs1057515508	0.00008
NM_205861.3(DHDDS):c.*433T>C	rs180690900	0.00008
NM_205861.3(DHDDS):c.*620C>T	rs1057515470	0.00007
NM_205861.3(DHDDS):c.874G>A (p.Ala292Thr)	rs376234168	0.00007
NM_205861.3(DHDDS):c.*109C>T	rs1032593244	0.00006
NM_205861.3(DHDDS):c.*1571A>C	rs900974941	0.00006
NM_205861.3(DHDDS):c.*174G>T	rs1022655060	0.00006
NM_205861.3(DHDDS):c.312G>A (p.Leu104=)	rs146693904	0.00006
NM_205861.3(DHDDS):c.480T>C (p.His160=)	rs758260694	0.00006
NM_205861.3(DHDDS):c.504G>A (p.Glu168=)	rs1251271750	0.00006
NM_205861.3(DHDDS):c.761T>C (p.Leu254Pro)	rs755439760	0.00006
NM_205861.3(DHDDS):c.476G>A (p.Arg159His)	rs369429285	0.00005
NM_205861.3(DHDDS):c.65C>T (p.Ala22Val)	rs372070142	0.00005
NM_205861.3(DHDDS):c.*1464C>T	rs766594382	0.00004
NM_205861.3(DHDDS):c.*404C>G	rs572009346	0.00004
NM_205861.3(DHDDS):c.441-24A>G	rs764831063	0.00004
NM_205861.3(DHDDS):c.*1439C>G	rs980945484	0.00003
NM_205861.3(DHDDS):c.219G>A (p.Val73=)	rs771438629	0.00003
NM_205861.3(DHDDS):c.271G>C (p.Asp91His)	rs773154382	0.00003
NM_205861.3(DHDDS):c.273C>T (p.Asp91=)	rs201045286	0.00003
NM_205861.3(DHDDS):c.292C>T (p.Arg98Trp)	rs754564043	0.00003
NM_205861.3(DHDDS):c.308G>A (p.Arg103His)	rs115712846	0.00003
NM_205861.3(DHDDS):c.404T>C (p.Ile135Thr)	rs200277808	0.00003
NM_205861.3(DHDDS):c.441-10C>T	rs763275058	0.00003
NM_205861.3(DHDDS):c.651A>G (p.Leu217=)	rs1296634591	0.00003
NM_205861.3(DHDDS):c.688G>A (p.Val230Ile)	rs143075758	0.00003
NM_205861.3(DHDDS):c.74T>G (p.Met25Arg)	rs751817404	0.00003
NM_205861.3(DHDDS):c.*733T>C	rs1055171536	0.00002
NM_205861.3(DHDDS):c.181-9C>T	rs754405782	0.00002
NM_205861.3(DHDDS):c.307C>T (p.Arg103Cys)	rs762393542	0.00002
NM_205861.3(DHDDS):c.590C>G (p.Ser197Cys)	rs772379835	0.00002
NM_205861.3(DHDDS):c.756C>T (p.Ser252=)	rs565600867	0.00002
NM_205861.3(DHDDS):c.909G>A (p.Ser303=)	rs376517028	0.00002
NM_205861.3(DHDDS):c.916C>T (p.Arg306Trp)	rs139109356	0.00002
NM_205861.3(DHDDS):c.919G>C (p.Glu307Gln)	rs762740714	0.00002
NM_024887.3(DHDDS):c.-143C>T	rs1011390170	0.00001
NM_205861.3(DHDDS):c.*1343C>T	rs571845250	0.00001
NM_205861.3(DHDDS):c.*210C>T	rs1389894701	0.00001
NM_205861.3(DHDDS):c.*312C>T	rs1057515469	0.00001
NM_205861.3(DHDDS):c.*986T>A	rs1057515472	0.00001
NM_205861.3(DHDDS):c.102C>T (p.Asp34=)	rs577531413	0.00001
NM_205861.3(DHDDS):c.139C>T (p.Arg47Trp)	rs750366746	0.00001
NM_205861.3(DHDDS):c.181-16C>A	rs1462542158	0.00001
NM_205861.3(DHDDS):c.198G>A (p.Leu66=)	rs1308665778	0.00001
NM_205861.3(DHDDS):c.213A>G (p.Leu71=)	rs1230195916	0.00001
NM_205861.3(DHDDS):c.228C>T (p.Tyr76=)	rs566029202	0.00001
NM_205861.3(DHDDS):c.22G>C (p.Glu8Gln)	rs1415428953	0.00001
NM_205861.3(DHDDS):c.231A>G (p.Ala77=)	rs373249607	0.00001
NM_205861.3(DHDDS):c.270A>T (p.Val90=)	rs1482389957	0.00001
NM_205861.3(DHDDS):c.274G>A (p.Gly92Arg)	rs766371067	0.00001
NM_205861.3(DHDDS):c.293G>A (p.Arg98Gln)	rs752459219	0.00001
NM_205861.3(DHDDS):c.323A>G (p.Lys108Arg)	rs2075232541	0.00001
NM_205861.3(DHDDS):c.324-4T>G	rs747118618	0.00001
NM_205861.3(DHDDS):c.339G>C (p.Lys113Asn)	rs144046776	0.00001
NM_205861.3(DHDDS):c.361C>T (p.Leu121=)	rs770824761	0.00001
NM_205861.3(DHDDS):c.366C>T (p.Gly122=)	rs774001400	0.00001
NM_205861.3(DHDDS):c.425C>T (p.Thr142Met)	rs758751596	0.00001
NM_205861.3(DHDDS):c.426G>A (p.Thr142=)	rs780727048	0.00001
NM_205861.3(DHDDS):c.440+8C>A	rs1454410409	0.00001
NM_205861.3(DHDDS):c.440A>G (p.Lys147Arg)	rs201280820	0.00001
NM_205861.3(DHDDS):c.441-20T>G	rs750044465	0.00001
NM_205861.3(DHDDS):c.45C>T (p.Phe15=)	rs1168720054	0.00001
NM_205861.3(DHDDS):c.465A>G (p.Ala155=)	rs202148886	0.00001
NM_205861.3(DHDDS):c.468C>T (p.Tyr156=)	rs768075911	0.00001
NM_205861.3(DHDDS):c.491A>G (p.Asn164Ser)	rs1429544868	0.00001
NM_205861.3(DHDDS):c.519G>A (p.Val173=)	rs372941732	0.00001
NM_205861.3(DHDDS):c.53A>G (p.Asn18Ser)	rs922422245	0.00001
NM_205861.3(DHDDS):c.542+16T>C	rs774865740	0.00001
NM_205861.3(DHDDS):c.542+7C>T	rs772779004	0.00001
NM_205861.3(DHDDS):c.543-10C>T	rs1326477506	0.00001
NM_205861.3(DHDDS):c.561G>A (p.Leu187=)	rs1264707466	0.00001
NM_205861.3(DHDDS):c.57C>T (p.Ile19=)	rs981419090	0.00001
NM_205861.3(DHDDS):c.587G>A (p.Arg196His)	rs912516570	0.00001
NM_205861.3(DHDDS):c.63+13C>T	rs370926608	0.00001
NM_205861.3(DHDDS):c.64-12C>A	rs201786378	0.00001
NM_205861.3(DHDDS):c.64-7T>C	rs557755780	0.00001
NM_205861.3(DHDDS):c.658-11A>G	rs1243630480	0.00001
NM_205861.3(DHDDS):c.658-2A>G	rs1248671884	0.00001
NM_205861.3(DHDDS):c.681C>G (p.Phe227Leu)	rs773292741	0.00001
NM_205861.3(DHDDS):c.691C>G (p.Leu231Val)	rs372352032	0.00001
NM_205861.3(DHDDS):c.706A>T (p.Thr236Ser)	rs763763588	0.00001
NM_205861.3(DHDDS):c.723C>T (p.Phe241=)	rs375378756	0.00001
NM_205861.3(DHDDS):c.724G>A (p.Glu242Lys)	rs1229969030	0.00001
NM_205861.3(DHDDS):c.733C>G (p.Leu245Val)	rs1305856826	0.00001
NM_205861.3(DHDDS):c.738G>A (p.Gln246=)	rs369614880	0.00001
NM_205861.3(DHDDS):c.753T>C (p.His251=)	rs915027151	0.00001
NM_205861.3(DHDDS):c.765+18G>T	rs748452578	0.00001
NM_205861.3(DHDDS):c.78G>A (p.Pro26=)	rs988933766	0.00001
NM_205861.3(DHDDS):c.794G>A (p.Arg265Gln)	rs771106680	0.00001
NM_205861.3(DHDDS):c.837G>A (p.Glu279=)	rs772459112	0.00001
NM_205861.3(DHDDS):c.892C>T (p.Arg298Cys)	rs919843886	0.00001
NM_205861.3(DHDDS):c.904C>T (p.Leu302Phe)	rs779438727	0.00001
NM_205861.3(DHDDS):c.917G>A (p.Arg306Gln)	rs543487813	0.00001
NM_205861.3(DHDDS):c.987C>T (p.Gly329=)	rs1381026387	0.00001
NC_000001.10:g.(?_26757796)_(26764723_?)del
NC_000001.10:g.(?_26759437)_(26774171_?)del
NC_000001.10:g.(?_26764639)_(26764795_?)del
NC_000001.10:g.(?_26784272)_(26784406_?)del
NC_000001.10:g.(?_26784272)_(26795632_?)del
NM_205861.3(DHDDS):c.*1261C>T	rs993797663
NM_205861.3(DHDDS):c.*1431C>T	rs867968139
NM_205861.3(DHDDS):c.*1574C>T	rs2075546722
NM_205861.3(DHDDS):c.*2069A>G	rs573602803
NM_205861.3(DHDDS):c.*226C>G	rs2075529207
NM_205861.3(DHDDS):c.*55C>T	rs1057515504
NM_205861.3(DHDDS):c.*573C>T	rs539236177
NM_205861.3(DHDDS):c.*623G>A	rs77122971
NM_205861.3(DHDDS):c.*634G>A	rs911133080
NM_205861.3(DHDDS):c.*769G>T	rs80313266
NM_205861.3(DHDDS):c.-37G>A	rs2075117953
NM_205861.3(DHDDS):c.100del (p.Asp34fs)
NM_205861.3(DHDDS):c.102C>A (p.Asp34Glu)
NM_205861.3(DHDDS):c.103G>C (p.Gly35Arg)
NM_205861.3(DHDDS):c.104G>A (p.Gly35Glu)	rs2075181154
NM_205861.3(DHDDS):c.108C>T (p.Asn36=)
NM_205861.3(DHDDS):c.109C>T (p.Arg37Cys)	rs1553121072
NM_205861.3(DHDDS):c.110G>A (p.Arg37His)	rs1553121073
NM_205861.3(DHDDS):c.110G>T (p.Arg37Leu)
NM_205861.3(DHDDS):c.111T>G (p.Arg37=)	rs2075181248
NM_205861.3(DHDDS):c.112C>T (p.Arg38Cys)	rs2124374558
NM_205861.3(DHDDS):c.117T>C (p.Tyr39=)
NM_205861.3(DHDDS):c.120C>G (p.Ala40=)
NM_205861.3(DHDDS):c.125A>G (p.Lys42Arg)
NM_205861.3(DHDDS):c.126G>A (p.Lys42=)	rs1044233189
NM_205861.3(DHDDS):c.12C>T (p.Ile4=)
NM_205861.3(DHDDS):c.135G>T (p.Val45=)
NM_205861.3(DHDDS):c.138G>A (p.Glu46=)	rs768883929
NM_205861.3(DHDDS):c.139C>A (p.Arg47=)
NM_205861.3(DHDDS):c.141G>A (p.Arg47=)
NM_205861.3(DHDDS):c.143A>G (p.Gln48Arg)	rs938589146
NM_205861.3(DHDDS):c.144G>A (p.Gln48=)
NM_205861.3(DHDDS):c.144G>C (p.Gln48His)
NM_205861.3(DHDDS):c.148G>A (p.Gly50Ser)
NM_205861.3(DHDDS):c.153C>T (p.His51=)
NM_205861.3(DHDDS):c.155C>T (p.Ser52Leu)
NM_205861.3(DHDDS):c.157C>G (p.Gln53Glu)	rs1057515434
NM_205861.3(DHDDS):c.161G>T (p.Gly54Val)
NM_205861.3(DHDDS):c.167A>G (p.Asn56Ser)
NM_205861.3(DHDDS):c.168C>T (p.Asn56=)
NM_205861.3(DHDDS):c.171G>A (p.Lys57=)
NM_205861.3(DHDDS):c.177T>C (p.Ala59=)
NM_205861.3(DHDDS):c.180+13G>A
NM_205861.3(DHDDS):c.180+15C>T
NM_205861.3(DHDDS):c.180+18A>G
NM_205861.3(DHDDS):c.180+19G>A
NM_205861.3(DHDDS):c.180+6dup
NM_205861.3(DHDDS):c.180+8T>C
NM_205861.3(DHDDS):c.180+9G>A
NM_205861.3(DHDDS):c.180+9G>T	rs1472332898
NM_205861.3(DHDDS):c.181-17G>A
NM_205861.3(DHDDS):c.181-5C>T	rs2124403419
NM_205861.3(DHDDS):c.181-7C>G	rs2075230604
NM_205861.3(DHDDS):c.181-7C>T	rs2075230604
NM_205861.3(DHDDS):c.181-8C>T
NM_205861.3(DHDDS):c.186G>A (p.Leu62=)	rs2124403465
NM_205861.3(DHDDS):c.186G>T (p.Leu62=)	rs2124403465
NM_205861.3(DHDDS):c.187C>T (p.Arg63Trp)
NM_205861.3(DHDDS):c.188G>A (p.Arg63Gln)
NM_205861.3(DHDDS):c.189G>C (p.Arg63=)
NM_205861.3(DHDDS):c.191G>A (p.Trp64Ter)
NM_205861.3(DHDDS):c.19G>A (p.Gly7Arg)
NM_205861.3(DHDDS):c.1_2del (p.Met1fs)
NM_205861.3(DHDDS):c.202C>T (p.Leu68=)	rs2124403620
NM_205861.3(DHDDS):c.207C>T (p.Gly69=)
NM_205861.3(DHDDS):c.208A>C (p.Ile70Leu)	rs1253678123
NM_205861.3(DHDDS):c.208A>G (p.Ile70Val)
NM_205861.3(DHDDS):c.20G>A (p.Gly7Glu)	rs2075118494
NM_205861.3(DHDDS):c.210C>T (p.Ile70=)	rs1343687682
NM_205861.3(DHDDS):c.229G>A (p.Ala77Thr)
NM_205861.3(DHDDS):c.230C>T (p.Ala77Val)
NM_205861.3(DHDDS):c.251A>G (p.Lys84Arg)
NM_205861.3(DHDDS):c.254G>A (p.Arg85His)	rs2124404009
NM_205861.3(DHDDS):c.257C>G (p.Ser86Cys)
NM_205861.3(DHDDS):c.259A>G (p.Lys87Glu)	rs760975808
NM_205861.3(DHDDS):c.261G>A (p.Lys87=)
NM_205861.3(DHDDS):c.264T>C (p.Ser88=)	rs2075231676
NM_205861.3(DHDDS):c.264_267del (p.Ser88fs)
NM_205861.3(DHDDS):c.294G>A (p.Arg98=)	rs2075232193
NM_205861.3(DHDDS):c.294G>T (p.Arg98=)	rs2075232193
NM_205861.3(DHDDS):c.299A>C (p.Lys100Thr)	rs755746499
NM_205861.3(DHDDS):c.299A>G (p.Lys100Arg)	rs755746499
NM_205861.3(DHDDS):c.305G>A (p.Ser102Asn)
NM_205861.3(DHDDS):c.309C>T (p.Arg103=)	rs545547217
NM_205861.3(DHDDS):c.310T>C (p.Leu104=)
NM_205861.3(DHDDS):c.314T>C (p.Met105Thr)
NM_205861.3(DHDDS):c.323+10T>C	rs2124404634
NM_205861.3(DHDDS):c.323+11A>C
NM_205861.3(DHDDS):c.323+16A>T
NM_205861.3(DHDDS):c.323+17G>A
NM_205861.3(DHDDS):c.323+2_323+5del
NM_205861.3(DHDDS):c.323+7T>G
NM_205861.3(DHDDS):c.323+9C>G
NM_205861.3(DHDDS):c.324-18C>T
NM_205861.3(DHDDS):c.324-1G>T
NM_205861.3(DHDDS):c.324-20T>C
NM_205861.3(DHDDS):c.324-6G>C
NM_205861.3(DHDDS):c.324-7T>C	rs1421223894
NM_205861.3(DHDDS):c.324-8C>T
NM_205861.3(DHDDS):c.324-9C>A
NM_205861.3(DHDDS):c.324-9C>T
NM_205861.3(DHDDS):c.328A>G (p.Lys110Glu)
NM_205861.3(DHDDS):c.336G>A (p.Gln112=)
NM_205861.3(DHDDS):c.345G>A (p.Gly115=)
NM_205861.3(DHDDS):c.348G>A (p.Val116=)	rs2124425536
NM_205861.3(DHDDS):c.350G>C (p.Cys117Ser)	rs2124425567
NM_205861.3(DHDDS):c.356G>A (p.Arg119Gln)
NM_205861.3(DHDDS):c.357G>A (p.Arg119=)
NM_205861.3(DHDDS):c.357G>C (p.Arg119=)	rs1440891060
NM_205861.3(DHDDS):c.363G>A (p.Leu121=)
NM_205861.3(DHDDS):c.363G>C (p.Leu121=)	rs1570342748
NM_205861.3(DHDDS):c.364G>A (p.Gly122Ser)
NM_205861.3(DHDDS):c.367G>A (p.Asp123Asn)
NM_205861.3(DHDDS):c.373C>T (p.His125Tyr)
NM_205861.3(DHDDS):c.374_377dup (p.Pro128fs)	rs2124425894
NM_205861.3(DHDDS):c.377T>C (p.Leu126Ser)
NM_205861.3(DHDDS):c.384C>T (p.Pro128=)
NM_205861.3(DHDDS):c.387G>A (p.Leu129=)
NM_205861.3(DHDDS):c.390T>G (p.Asp130Glu)	rs2124426006
NM_205861.3(DHDDS):c.399G>C (p.Glu133Asp)	rs2075268700
NM_205861.3(DHDDS):c.408A>G (p.Ala136=)
NM_205861.3(DHDDS):c.40C>A (p.Arg14=)
NM_205861.3(DHDDS):c.411A>C (p.Gln137His)	rs1356542583
NM_205861.3(DHDDS):c.419A>G (p.Gln140Arg)	rs2075269440
NM_205861.3(DHDDS):c.423C>A (p.Ala141=)
NM_205861.3(DHDDS):c.423C>T (p.Ala141=)	rs1290238393
NM_205861.3(DHDDS):c.425C>G (p.Thr142Arg)	rs758751596
NM_205861.3(DHDDS):c.429G>A (p.Lys143=)	rs2124426337
NM_205861.3(DHDDS):c.42G>A (p.Arg14=)
NM_205861.3(DHDDS):c.42G>C (p.Arg14=)	rs2124329616
NM_205861.3(DHDDS):c.435C>T (p.Tyr145=)
NM_205861.3(DHDDS):c.438C>T (p.Asn146=)	rs2124426386
NM_205861.3(DHDDS):c.440+10C>T
NM_205861.3(DHDDS):c.440+12_440+13del
NM_205861.3(DHDDS):c.440+14T>G	rs1283007450
NM_205861.3(DHDDS):c.440+20T>C	rs2124426555
NM_205861.3(DHDDS):c.440+6T>C
NM_205861.3(DHDDS):c.440+7T>A
NM_205861.3(DHDDS):c.440+7T>G
NM_205861.3(DHDDS):c.441-12_441-10del
NM_205861.3(DHDDS):c.441-14T>G
NM_205861.3(DHDDS):c.441-16_441-15del
NM_205861.3(DHDDS):c.441-18C>A	rs2124432827
NM_205861.3(DHDDS):c.441-2A>T	rs922956992
NM_205861.3(DHDDS):c.441-5C>T	rs1325644117
NM_205861.3(DHDDS):c.443G>A (p.Cys148Tyr)
NM_205861.3(DHDDS):c.445T>C (p.Phe149Leu)
NM_205861.3(DHDDS):c.447C>A (p.Phe149Leu)	rs752178339
NM_205861.3(DHDDS):c.44T>A (p.Phe15Tyr)
NM_205861.3(DHDDS):c.450G>A (p.Leu150=)	rs2124433011
NM_205861.3(DHDDS):c.450G>T (p.Leu150=)
NM_205861.3(DHDDS):c.459T>C (p.Cys153=)	rs1262736639
NM_205861.3(DHDDS):c.475C>T (p.Arg159Cys)	rs752722280
NM_205861.3(DHDDS):c.486C>T (p.Ile162=)
NM_205861.3(DHDDS):c.492T>C (p.Asn164=)
NM_205861.3(DHDDS):c.496G>A (p.Val166Met)
NM_205861.3(DHDDS):c.496G>C (p.Val166Leu)
NM_205861.3(DHDDS):c.498G>A (p.Val166=)	rs2124433383
NM_205861.3(DHDDS):c.501A>G (p.Arg167=)
NM_205861.3(DHDDS):c.502G>C (p.Glu168Gln)
NM_205861.3(DHDDS):c.510C>T (p.Ala170=)
NM_205861.3(DHDDS):c.510dup (p.Trp171fs)	rs2124433466
NM_205861.3(DHDDS):c.512G>T (p.Trp171Leu)	rs367557625
NM_205861.3(DHDDS):c.513G>A (p.Trp171Ter)
NM_205861.3(DHDDS):c.513G>C (p.Trp171Cys)
NM_205861.3(DHDDS):c.514G>C (p.Gly172Arg)
NM_205861.3(DHDDS):c.516G>C (p.Gly172=)	rs776512735
NM_205861.3(DHDDS):c.516G>T (p.Gly172=)
NM_205861.3(DHDDS):c.517G>A (p.Val173Met)	rs2075282159
NM_205861.3(DHDDS):c.517dup (p.Val173fs)	rs1272594778
NM_205861.3(DHDDS):c.51C>T (p.Ala17=)
NM_205861.3(DHDDS):c.531G>T (p.Leu177=)
NM_205861.3(DHDDS):c.532T>C (p.Leu178=)
NM_205861.3(DHDDS):c.542+11T>C
NM_205861.3(DHDDS):c.542+11T>G	rs1268905536
NM_205861.3(DHDDS):c.542+18G>A
NM_205861.3(DHDDS):c.542+6C>A
NM_205861.3(DHDDS):c.542+6C>G	rs1286935101
NM_205861.3(DHDDS):c.542+7C>A	rs772779004
NM_205861.3(DHDDS):c.542+8G>T	rs149948788
NM_205861.3(DHDDS):c.543-10C>G
NM_205861.3(DHDDS):c.543-11G>C
NM_205861.3(DHDDS):c.543-11G>T
NM_205861.3(DHDDS):c.543-3T>C
NM_205861.3(DHDDS):c.543-5C>G
NM_205861.3(DHDDS):c.543-7A>G	rs2124489161
NM_205861.3(DHDDS):c.543-8C>G	rs2124489154
NM_205861.3(DHDDS):c.547A>C (p.Ile183Leu)	rs1294679503
NM_205861.3(DHDDS):c.549C>T (p.Ile183=)	rs2124489198
NM_205861.3(DHDDS):c.550T>G (p.Ser184Ala)
NM_205861.3(DHDDS):c.559C>G (p.Leu187Val)
NM_205861.3(DHDDS):c.561G>T (p.Leu187=)	rs1264707466
NM_205861.3(DHDDS):c.565G>C (p.Asp189His)
NM_205861.3(DHDDS):c.566A>G (p.Asp189Gly)
NM_205861.3(DHDDS):c.568A>T (p.Lys190Ter)
NM_205861.3(DHDDS):c.56T>G (p.Ile19Ser)
NM_205861.3(DHDDS):c.570G>A (p.Lys190=)	rs1570357051
NM_205861.3(DHDDS):c.571T>C (p.Cys191Arg)
NM_205861.3(DHDDS):c.576C>G (p.Leu192=)
NM_205861.3(DHDDS):c.580A>G (p.Thr194Ala)
NM_205861.3(DHDDS):c.584A>C (p.Asn195Thr)	rs778754350
NM_205861.3(DHDDS):c.586C>T (p.Arg196Cys)
NM_205861.3(DHDDS):c.588C>A (p.Arg196=)	rs745513492
NM_205861.3(DHDDS):c.58A>G (p.Ile20Val)	rs955247503
NM_205861.3(DHDDS):c.591T>G (p.Ser197=)	rs794727876
NM_205861.3(DHDDS):c.592C>T (p.Pro198Ser)	rs1288778858
NM_205861.3(DHDDS):c.600T>C (p.Pro200=)
NM_205861.3(DHDDS):c.603C>T (p.Asp201=)	rs775940416
NM_205861.3(DHDDS):c.604A>G (p.Ile202Val)	rs1196016348
NM_205861.3(DHDDS):c.613C>T (p.Arg205Trp)
NM_205861.3(DHDDS):c.614G>A (p.Arg205Gln)	rs1557447255
NM_205861.3(DHDDS):c.615G>T (p.Arg205=)
NM_205861.3(DHDDS):c.616A>G (p.Thr206Ala)	rs2124489724
NM_205861.3(DHDDS):c.620C>G (p.Ser207Cys)
NM_205861.3(DHDDS):c.621T>A (p.Ser207=)	rs1280728029
NM_205861.3(DHDDS):c.621T>C (p.Ser207=)	rs1280728029
NM_205861.3(DHDDS):c.623G>A (p.Gly208Glu)
NM_205861.3(DHDDS):c.628G>A (p.Val210Met)
NM_205861.3(DHDDS):c.63+11del	rs2124329873
NM_205861.3(DHDDS):c.63+18G>A
NM_205861.3(DHDDS):c.63+19C>T
NM_205861.3(DHDDS):c.63+6C>T
NM_205861.3(DHDDS):c.63+9T>C
NM_205861.3(DHDDS):c.632G>A (p.Arg211Gln)	rs1553122926
NM_205861.3(DHDDS):c.64-11C>T
NM_205861.3(DHDDS):c.64-12C>T	rs201786378
NM_205861.3(DHDDS):c.64-19T>C
NM_205861.3(DHDDS):c.64-19T>G
NM_205861.3(DHDDS):c.64-20T>C
NM_205861.3(DHDDS):c.64-3C>T
NM_205861.3(DHDDS):c.64-6C>T
NM_205861.3(DHDDS):c.64-9A>C	rs1252758141
NM_205861.3(DHDDS):c.644del (p.Phe215fs)
NM_205861.3(DHDDS):c.646T>C (p.Leu216=)	rs2124489873
NM_205861.3(DHDDS):c.649C>T (p.Leu217=)
NM_205861.3(DHDDS):c.650_657+54del
NM_205861.3(DHDDS):c.657+11T>G
NM_205861.3(DHDDS):c.657+17T>C
NM_205861.3(DHDDS):c.657+1G>A
NM_205861.3(DHDDS):c.657+8A>G
NM_205861.3(DHDDS):c.658-11A>C
NM_205861.3(DHDDS):c.658-11A>T
NM_205861.3(DHDDS):c.658-11_658-9dup	rs2124501126
NM_205861.3(DHDDS):c.658-12T>C
NM_205861.3(DHDDS):c.658-12T>G
NM_205861.3(DHDDS):c.658-17C>T
NM_205861.3(DHDDS):c.658-19T>C
NM_205861.3(DHDDS):c.658-20C>G
NM_205861.3(DHDDS):c.658-5C>G
NM_205861.3(DHDDS):c.658-5C>T
NM_205861.3(DHDDS):c.658-8T>C	rs1358796301
NM_205861.3(DHDDS):c.658-9C>T	rs1291000354
NM_205861.3(DHDDS):c.660C>A (p.Thr220=)
NM_205861.3(DHDDS):c.665_668del (p.His222fs)
NM_205861.3(DHDDS):c.668C>G (p.Ser223Cys)	rs2124501296
NM_205861.3(DHDDS):c.684A>G (p.Gln228=)	rs766651316
NM_205861.3(DHDDS):c.687C>T (p.Pro229=)	rs1166377469
NM_205861.3(DHDDS):c.691C>T (p.Leu231=)
NM_205861.3(DHDDS):c.698C>G (p.Pro233Arg)
NM_205861.3(DHDDS):c.699A>G (p.Pro233=)
NM_205861.3(DHDDS):c.6A>G (p.Ser2=)	rs2124329360
NM_205861.3(DHDDS):c.702G>A (p.Glu234=)	rs2124501446
NM_205861.3(DHDDS):c.705T>A (p.Tyr235Ter)
NM_205861.3(DHDDS):c.705T>C (p.Tyr235=)
NM_205861.3(DHDDS):c.709T>C (p.Phe237Leu)	rs2124501513
NM_205861.3(DHDDS):c.710T>G (p.Phe237Cys)	rs1057515468
NM_205861.3(DHDDS):c.711T>C (p.Phe237=)	rs1258300851
NM_205861.3(DHDDS):c.714G>A (p.Trp238Ter)	rs2124501559
NM_205861.3(DHDDS):c.717C>G (p.Asn239Lys)
NM_205861.3(DHDDS):c.720C>T (p.Leu240=)	rs1570359391
NM_205861.3(DHDDS):c.722T>G (p.Phe241Cys)	rs1038914770
NM_205861.3(DHDDS):c.732C>T (p.Ile244=)
NM_205861.3(DHDDS):c.733C>T (p.Leu245=)
NM_205861.3(DHDDS):c.744G>C (p.Gln248His)	rs2075407784
NM_205861.3(DHDDS):c.750C>A (p.Asn250Lys)
NM_205861.3(DHDDS):c.750C>T (p.Asn250=)	rs373118655
NM_205861.3(DHDDS):c.756C>A (p.Ser252Arg)
NM_205861.3(DHDDS):c.764A>G (p.Gln255Arg)
NM_205861.3(DHDDS):c.765+19C>T
NM_205861.3(DHDDS):c.765+5G>T	rs1335999297
NM_205861.3(DHDDS):c.765+7A>G
NM_205861.3(DHDDS):c.765+7A>T
NM_205861.3(DHDDS):c.765+8A>G
NM_205861.3(DHDDS):c.765+9G>C
NM_205861.3(DHDDS):c.766-10T>C	rs1275353596
NM_205861.3(DHDDS):c.766-10T>G	rs1275353596
NM_205861.3(DHDDS):c.766-12T>A
NM_205861.3(DHDDS):c.766-18C>T	rs2124551912
NM_205861.3(DHDDS):c.766-20T>C
NM_205861.3(DHDDS):c.766-4del	rs2075521285
NM_205861.3(DHDDS):c.766-6dup	rs2124552025
NM_205861.3(DHDDS):c.766-7C>G
NM_205861.3(DHDDS):c.766-8T>C
NM_205861.3(DHDDS):c.772del (p.Arg258fs)
NM_205861.3(DHDDS):c.773G>A (p.Arg258Gln)
NM_205861.3(DHDDS):c.775G>A (p.Asp259Asn)	rs1057515435
NM_205861.3(DHDDS):c.776A>G (p.Asp259Gly)
NM_205861.3(DHDDS):c.77C>T (p.Pro26Leu)
NM_205861.3(DHDDS):c.783T>C (p.Tyr261=)
NM_205861.3(DHDDS):c.789G>A (p.Glu263=)	rs2124552202
NM_205861.3(DHDDS):c.792G>C (p.Glu264Asp)
NM_205861.3(DHDDS):c.793C>T (p.Arg265Trp)	rs749723641
NM_205861.3(DHDDS):c.79A>C (p.Lys27Gln)
NM_205861.3(DHDDS):c.801G>A (p.Arg267=)
NM_205861.3(DHDDS):c.808C>T (p.Leu270=)	rs2124552293
NM_205861.3(DHDDS):c.813G>A (p.Glu271=)	rs774310289
NM_205861.3(DHDDS):c.816G>A (p.Arg272=)
NM_205861.3(DHDDS):c.817G>A (p.Asp273Asn)	rs182263884
NM_205861.3(DHDDS):c.817G>T (p.Asp273Tyr)	rs182263884
NM_205861.3(DHDDS):c.81A>G (p.Lys27=)	rs759795707
NM_205861.3(DHDDS):c.822G>C (p.Gln274His)	rs2124552427
NM_205861.3(DHDDS):c.839A>C (p.Gln280Pro)
NM_205861.3(DHDDS):c.842T>C (p.Leu281Pro)
NM_205861.3(DHDDS):c.843G>A (p.Leu281=)
NM_205861.3(DHDDS):c.845T>C (p.Leu282Pro)	rs775810457
NM_205861.3(DHDDS):c.846G>C (p.Leu282=)
NM_205861.3(DHDDS):c.846G>T (p.Leu282=)	rs2075522251
NM_205861.3(DHDDS):c.847C>A (p.Arg283=)	rs1327145984
NM_205861.3(DHDDS):c.848G>A (p.Arg283Gln)	rs761750566
NM_205861.3(DHDDS):c.851A>G (p.Glu284Gly)
NM_205861.3(DHDDS):c.853G>A (p.Gly285Arg)
NM_205861.3(DHDDS):c.855G>A (p.Gly285=)	rs928446379
NM_205861.3(DHDDS):c.855G>T (p.Gly285=)	rs928446379
NM_205861.3(DHDDS):c.856C>A (p.Leu286Ile)
NM_205861.3(DHDDS):c.857T>C (p.Leu286Pro)
NM_205861.3(DHDDS):c.85A>G (p.Ile29Val)	rs2075180906
NM_205861.3(DHDDS):c.864C>T (p.Ala288=)
NM_205861.3(DHDDS):c.866G>T (p.Ser289Ile)	rs1193686226
NM_205861.3(DHDDS):c.869G>C (p.Gly290Ala)
NM_205861.3(DHDDS):c.86T>C (p.Ile29Thr)	rs2124374344
NM_205861.3(DHDDS):c.873C>A (p.Asp291Glu)
NM_205861.3(DHDDS):c.873C>T (p.Asp291=)	rs759006198
NM_205861.3(DHDDS):c.876C>G (p.Ala292=)
NM_205861.3(DHDDS):c.879G>A (p.Gln293=)	rs1570370915
NM_205861.3(DHDDS):c.883C>T (p.Arg295Ter)
NM_205861.3(DHDDS):c.884G>A (p.Arg295Gln)
NM_205861.3(DHDDS):c.886A>C (p.Arg296=)	rs2124552882
NM_205861.3(DHDDS):c.893G>A (p.Arg298His)
NM_205861.3(DHDDS):c.893G>C (p.Arg298Pro)	rs778103040
NM_205861.3(DHDDS):c.894C>A (p.Arg298=)
NM_205861.3(DHDDS):c.898C>A (p.His300Asn)
NM_205861.3(DHDDS):c.898C>T (p.His300Tyr)
NM_205861.3(DHDDS):c.909G>C (p.Ser303=)
NM_205861.3(DHDDS):c.909G>T (p.Ser303=)	rs376517028
NM_205861.3(DHDDS):c.915A>G (p.Arg305=)
NM_205861.3(DHDDS):c.916C>A (p.Arg306=)	rs139109356
NM_205861.3(DHDDS):c.91T>C (p.Phe31Leu)
NM_205861.3(DHDDS):c.921A>G (p.Glu307=)
NM_205861.3(DHDDS):c.922G>A (p.Glu308Lys)	rs2075524191
NM_205861.3(DHDDS):c.933A>G (p.Gln311=)
NM_205861.3(DHDDS):c.939C>T (p.Phe313=)
NM_205861.3(DHDDS):c.93C>T (p.Phe31=)	rs1281509733
NM_205861.3(DHDDS):c.940C>T (p.Leu314=)	rs1553124038
NM_205861.3(DHDDS):c.945G>C (p.Gln315His)
NM_205861.3(DHDDS):c.946G>A (p.Ala316Thr)
NM_205861.3(DHDDS):c.946G>T (p.Ala316Ser)
NM_205861.3(DHDDS):c.94A>G (p.Ile32Val)
NM_205861.3(DHDDS):c.951G>A (p.Leu317=)
NM_205861.3(DHDDS):c.957C>G (p.Leu319=)	rs763737754
NM_205861.3(DHDDS):c.961C>T (p.Arg321Ter)
NM_205861.3(DHDDS):c.962G>A (p.Arg321Gln)	rs562974074
NM_205861.3(DHDDS):c.962G>C (p.Arg321Pro)
NM_205861.3(DHDDS):c.973C>T (p.Leu325=)
NM_205861.3(DHDDS):c.979C>G (p.Arg327Gly)
NM_205861.3(DHDDS):c.979C>T (p.Arg327Cys)	rs758618507
NM_205861.3(DHDDS):c.980G>A (p.Arg327His)	rs780269059
NM_205861.3(DHDDS):c.989C>A (p.Thr330Asn)
NM_205861.3(DHDDS):c.995C>G (p.Ser332Ter)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.