ClinVar Miner

List of variants in gene PEPD reported as likely benign for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 404
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HGVS dbSNP gnomAD frequency
NM_000285.4(PEPD):c.1256A>G (p.Asp419Gly) rs142070498 0.00426
NM_000285.4(PEPD):c.624+16G>A rs142369843 0.00383
NM_000285.4(PEPD):c.1294G>A (p.Ala432Thr) rs149042427 0.00332
NM_000285.4(PEPD):c.1163G>A (p.Arg388His) rs2230062 0.00278
NM_000285.4(PEPD):c.1098C>T (p.His366=) rs149579451 0.00228
NM_000285.4(PEPD):c.104G>A (p.Arg35Gln) rs200435937 0.00138
NM_000285.4(PEPD):c.456G>A (p.Thr152=) rs200011486 0.00124
NM_000285.4(PEPD):c.967+20G>C rs376640051 0.00114
NM_000285.4(PEPD):c.1442G>T (p.Gly481Val) rs144944440 0.00087
NM_000285.4(PEPD):c.1329T>C (p.Phe443=) rs2230063 0.00081
NM_000285.4(PEPD):c.34G>A (p.Gly12Arg) rs201992066 0.00073
NM_000285.4(PEPD):c.834C>T (p.Gly278=) rs371699300 0.00067
NM_000285.4(PEPD):c.1345-11G>C rs374919986 0.00061
NM_000285.4(PEPD):c.100C>T (p.Leu34=) rs376016676 0.00058
NM_000285.4(PEPD):c.794G>A (p.Arg265Gln) rs200351927 0.00057
NM_000285.4(PEPD):c.259G>A (p.Asp87Asn) rs201865747 0.00049
NM_000285.4(PEPD):c.913G>A (p.Val305Ile) rs200931112 0.00037
NM_000285.4(PEPD):c.1454C>A (p.Ala485Asp) rs781570190 0.00027
NM_000285.4(PEPD):c.548+15T>C rs375333595 0.00026
NM_000285.4(PEPD):c.447C>T (p.Gly149=) rs375023206 0.00025
NM_000285.4(PEPD):c.1325G>A (p.Arg442His) rs568774163 0.00016
NM_000285.4(PEPD):c.946G>A (p.Val316Ile) rs370219399 0.00015
NM_000285.4(PEPD):c.858C>T (p.Ser286=) rs375354020 0.00013
NM_000285.4(PEPD):c.1239G>A (p.Pro413=) rs373060916 0.00012
NM_000285.4(PEPD):c.17+17C>T rs780949525 0.00011
NM_000285.4(PEPD):c.609C>T (p.Ser203=) rs575076607 0.00011
NM_000285.4(PEPD):c.202-5C>T rs765794424 0.00010
NM_000285.4(PEPD):c.912C>T (p.Ala304=) rs199621901 0.00010
NM_000285.4(PEPD):c.984C>T (p.Asp328=) rs368959300 0.00010
NM_000285.4(PEPD):c.1184G>A (p.Arg395Gln) rs561611888 0.00009
NM_000285.4(PEPD):c.183C>T (p.Thr61=) rs560782839 0.00009
NM_000285.4(PEPD):c.492C>T (p.Asp164=) rs370105932 0.00009
NM_000285.4(PEPD):c.756C>T (p.Ala252=) rs374710449 0.00009
NM_000285.4(PEPD):c.967+10G>A rs372949783 0.00009
NM_000285.4(PEPD):c.879C>T (p.Pro293=) rs773934450 0.00008
NM_000285.4(PEPD):c.672-16G>A rs769117075 0.00007
NM_000285.4(PEPD):c.201+12C>T rs555683541 0.00006
NM_000285.4(PEPD):c.393+11G>A rs781758991 0.00006
NM_000285.4(PEPD):c.1281G>A (p.Ala427=) rs183038027 0.00005
NM_000285.4(PEPD):c.504-6C>T rs370887337 0.00005
NM_000285.4(PEPD):c.885C>T (p.Asn295=) rs771953603 0.00005
NM_000285.4(PEPD):c.1044C>T (p.Ser348=) rs577733369 0.00004
NM_000285.4(PEPD):c.1152+14T>C rs542598101 0.00004
NM_000285.4(PEPD):c.366C>T (p.Ala122=) rs201145610 0.00004
NM_000285.4(PEPD):c.394-10G>A rs781780985 0.00004
NM_000285.4(PEPD):c.504-10C>T rs201605550 0.00004
NM_000285.4(PEPD):c.624+14C>T rs762712383 0.00004
NM_000285.4(PEPD):c.6G>A (p.Ala2=) rs752794552 0.00004
NM_000285.4(PEPD):c.777C>T (p.Ala259=) rs573678038 0.00004
NM_000285.4(PEPD):c.798G>A (p.Thr266=) rs1474482898 0.00004
NM_000285.4(PEPD):c.861C>T (p.Asp287=) rs764126413 0.00004
NM_000285.4(PEPD):c.941G>A (p.Arg314His) rs201447445 0.00004
NM_000285.4(PEPD):c.1170C>T (p.Asp390=) rs1362850797 0.00003
NM_000285.4(PEPD):c.1311C>T (p.Arg437=) rs369197590 0.00003
NM_000285.4(PEPD):c.1344+13G>A rs375401743 0.00003
NM_000285.4(PEPD):c.1455C>T (p.Ala485=) rs375224388 0.00003
NM_000285.4(PEPD):c.462C>T (p.Ser154=) rs375631938 0.00003
NM_000285.4(PEPD):c.671+12dup rs766743959 0.00003
NM_000285.4(PEPD):c.672-9C>G rs886054336 0.00003
NM_000285.4(PEPD):c.740+7G>A rs1279487088 0.00003
NM_000285.4(PEPD):c.819-4G>A rs370100218 0.00003
NM_000285.4(PEPD):c.1176C>T (p.Pro392=) rs530300580 0.00002
NM_000285.4(PEPD):c.201+13G>A rs780612884 0.00002
NM_000285.4(PEPD):c.279G>A (p.Ser93=) rs780889402 0.00002
NM_000285.4(PEPD):c.384C>T (p.Tyr128=) rs768352518 0.00002
NM_000285.4(PEPD):c.534A>G (p.Pro178=) rs376361050 0.00002
NM_000285.4(PEPD):c.548+8C>T rs1356650312 0.00002
NM_000285.4(PEPD):c.57G>A (p.Pro19=) rs759161136 0.00002
NM_000285.4(PEPD):c.672-18G>A rs747868803 0.00002
NM_000285.4(PEPD):c.741-17C>A rs762723153 0.00002
NM_000285.4(PEPD):c.819-13C>T rs749490639 0.00002
NM_000285.4(PEPD):c.967+12G>T rs768628385 0.00002
NM_000285.4(PEPD):c.1089T>C (p.Phe363=) rs749751344 0.00001
NM_000285.4(PEPD):c.1125C>T (p.Asp375=) rs752440638 0.00001
NM_000285.4(PEPD):c.1153-6C>T rs886054335 0.00001
NM_000285.4(PEPD):c.1173G>A (p.Glu391=) rs540500595 0.00001
NM_000285.4(PEPD):c.1293C>T (p.Arg431=) rs758148546 0.00001
NM_000285.4(PEPD):c.1317C>T (p.Val439=) rs369183873 0.00001
NM_000285.4(PEPD):c.1344+12C>T rs1249813509 0.00001
NM_000285.4(PEPD):c.1345-13C>T rs1228756092 0.00001
NM_000285.4(PEPD):c.1353C>T (p.Ile451=) rs770898814 0.00001
NM_000285.4(PEPD):c.1392G>T (p.Leu464=) rs758361826 0.00001
NM_000285.4(PEPD):c.18-8C>T rs778269854 0.00001
NM_000285.4(PEPD):c.202-7G>A rs763346457 0.00001
NM_000285.4(PEPD):c.330-19C>G rs777280359 0.00001
NM_000285.4(PEPD):c.375C>T (p.Asp125=) rs550472850 0.00001
NM_000285.4(PEPD):c.393+10C>T rs750985093 0.00001
NM_000285.4(PEPD):c.394-9A>T rs1435051635 0.00001
NM_000285.4(PEPD):c.402C>T (p.Ser134=) rs373639982 0.00001
NM_000285.4(PEPD):c.432C>T (p.Leu144=) rs750044618 0.00001
NM_000285.4(PEPD):c.594C>T (p.Thr198=) rs951655012 0.00001
NM_000285.4(PEPD):c.624+15G>A rs538519269 0.00001
NM_000285.4(PEPD):c.672-8C>G rs1428759678 0.00001
NM_000285.4(PEPD):c.678C>T (p.Phe226=) rs746307467 0.00001
NM_000285.4(PEPD):c.696C>G (p.Ser232=) rs1212822412 0.00001
NM_000285.4(PEPD):c.72C>A (p.Ala24=) rs917108629 0.00001
NM_000285.4(PEPD):c.740+10G>C rs746397420 0.00001
NM_000285.4(PEPD):c.818+19C>G rs1298905708 0.00001
NM_000285.4(PEPD):c.873C>T (p.Ser291=) rs1027620117 0.00001
NM_000285.4(PEPD):c.945C>T (p.Ala315=) rs529524294 0.00001
NM_000285.4(PEPD):c.967+15G>A rs749126560 0.00001
NM_000285.4(PEPD):c.967+18G>C rs369759038 0.00001
NM_000285.4(PEPD):c.969T>C (p.Gly323=) rs1568445341 0.00001
NM_000285.4(PEPD):c.1005C>A (p.Arg335=)
NM_000285.4(PEPD):c.1008C>T (p.Ile336=)
NM_000285.4(PEPD):c.1026C>T (p.Ala342=)
NM_000285.4(PEPD):c.1038C>T (p.Ile346=)
NM_000285.4(PEPD):c.1041G>A (p.Leu347=)
NM_000285.4(PEPD):c.1041G>C (p.Leu347=)
NM_000285.4(PEPD):c.1050C>T (p.Ser350=)
NM_000285.4(PEPD):c.1056C>T (p.Asp352=)
NM_000285.4(PEPD):c.1059C>T (p.Ala353=)
NM_000285.4(PEPD):c.1074C>T (p.His358=)
NM_000285.4(PEPD):c.1075C>T (p.Leu359=)
NM_000285.4(PEPD):c.1083C>T (p.Ala361=)
NM_000285.4(PEPD):c.1086G>A (p.Val362=)
NM_000285.4(PEPD):c.1095T>C (p.Pro365=)
NM_000285.4(PEPD):c.1101G>A (p.Gly367=)
NM_000285.4(PEPD):c.1107C>G (p.Gly369=)
NM_000285.4(PEPD):c.1113C>T (p.Phe371=)
NM_000285.4(PEPD):c.1122T>C (p.Ile374=)
NM_000285.4(PEPD):c.1146C>T (p.Tyr382=)
NM_000285.4(PEPD):c.1152+13A>G
NM_000285.4(PEPD):c.1152+13_1152+16del
NM_000285.4(PEPD):c.1152+16G>A
NM_000285.4(PEPD):c.1152+9G>A
NM_000285.4(PEPD):c.1153-13C>G
NM_000285.4(PEPD):c.1153-13_1153-12del
NM_000285.4(PEPD):c.1153-15C>G
NM_000285.4(PEPD):c.1153-16C>T
NM_000285.4(PEPD):c.1155C>T (p.Gly385=)
NM_000285.4(PEPD):c.1167C>T (p.Ile389=)
NM_000285.4(PEPD):c.1185G>A (p.Arg395=)
NM_000285.4(PEPD):c.1185G>C (p.Arg395=)
NM_000285.4(PEPD):c.1189C>T (p.Leu397=)
NM_000285.4(PEPD):c.1197T>G (p.Thr399=)
NM_000285.4(PEPD):c.1206C>T (p.His402=)
NM_000285.4(PEPD):c.120G>A (p.Val40=)
NM_000285.4(PEPD):c.1215A>C (p.Pro405=)
NM_000285.4(PEPD):c.1215A>G (p.Pro405=)
NM_000285.4(PEPD):c.1230C>G (p.Thr410=)
NM_000285.4(PEPD):c.1230C>T (p.Thr410=)
NM_000285.4(PEPD):c.1248C>T (p.Tyr416=)
NM_000285.4(PEPD):c.1254C>T (p.Ile418=)
NM_000285.4(PEPD):c.1264C>T (p.Leu422=)
NM_000285.4(PEPD):c.126C>G (p.Ala42=) rs754957045
NM_000285.4(PEPD):c.126C>T (p.Ala42=)
NM_000285.4(PEPD):c.1275C>T (p.Ala425=)
NM_000285.4(PEPD):c.1287G>A (p.Pro429=)
NM_000285.4(PEPD):c.1296C>G (p.Ala432=) rs1600070329
NM_000285.4(PEPD):c.1305T>G (p.Leu435=)
NM_000285.4(PEPD):c.1308C>T (p.Asn436=)
NM_000285.4(PEPD):c.1311C>A (p.Arg437=) rs369197590
NM_000285.4(PEPD):c.1318C>T (p.Leu440=)
NM_000285.4(PEPD):c.1332C>T (p.Arg444=)
NM_000285.4(PEPD):c.133A>G (p.Ile45Val)
NM_000285.4(PEPD):c.1341C>T (p.Gly447=)
NM_000285.4(PEPD):c.1344+10C>A
NM_000285.4(PEPD):c.1344+10C>T
NM_000285.4(PEPD):c.1344+15del rs2145320591
NM_000285.4(PEPD):c.1344+4_1344+7dup
NM_000285.4(PEPD):c.1345-10C>G
NM_000285.4(PEPD):c.1345-11G>A
NM_000285.4(PEPD):c.1345-15G>A
NM_000285.4(PEPD):c.1345-16dup
NM_000285.4(PEPD):c.1345-17C>G rs370471235
NM_000285.4(PEPD):c.1345-18T>C
NM_000285.4(PEPD):c.1345-19G>A
NM_000285.4(PEPD):c.1345-23GT[2] rs750965279
NM_000285.4(PEPD):c.1345-8T>C
NM_000285.4(PEPD):c.1350C>A (p.Arg450=)
NM_000285.4(PEPD):c.135C>T (p.Ile45=)
NM_000285.4(PEPD):c.1365C>G (p.Val455=)
NM_000285.4(PEPD):c.1371G>A (p.Val457=)
NM_000285.4(PEPD):c.1374T>G (p.Thr458=)
NM_000285.4(PEPD):c.138G>A (p.Val46=)
NM_000285.4(PEPD):c.1401C>T (p.Cys467=)
NM_000285.4(PEPD):c.1416G>T (p.Val472=)
NM_000285.4(PEPD):c.1422G>A (p.Glu474=)
NM_000285.4(PEPD):c.1431A>G (p.Ala477=)
NM_000285.4(PEPD):c.144G>A (p.Leu48=) rs772942483
NM_000285.4(PEPD):c.144G>T (p.Leu48=)
NM_000285.4(PEPD):c.1461C>G (p.Thr487=)
NM_000285.4(PEPD):c.1461C>T (p.Thr487=)
NM_000285.4(PEPD):c.150C>T (p.Gly50=)
NM_000285.4(PEPD):c.151G>A (p.Gly51Arg)
NM_000285.4(PEPD):c.153G>T (p.Gly51=)
NM_000285.4(PEPD):c.156G>A (p.Glu52=)
NM_000285.4(PEPD):c.15C>T (p.Thr5=)
NM_000285.4(PEPD):c.168C>A (p.Arg56=)
NM_000285.4(PEPD):c.168C>G (p.Arg56=)
NM_000285.4(PEPD):c.17+11C>A
NM_000285.4(PEPD):c.17+11C>G
NM_000285.4(PEPD):c.17+12G>A rs775048548
NM_000285.4(PEPD):c.17+12G>C rs775048548
NM_000285.4(PEPD):c.17+12G>T
NM_000285.4(PEPD):c.17+13C>A
NM_000285.4(PEPD):c.17+14C>T
NM_000285.4(PEPD):c.17+15T>C
NM_000285.4(PEPD):c.17+16C>T
NM_000285.4(PEPD):c.17+18C>G
NM_000285.4(PEPD):c.17+20C>A
NM_000285.4(PEPD):c.17+20C>T
NM_000285.4(PEPD):c.17+8C>G
NM_000285.4(PEPD):c.17+90G>A
NM_000285.4(PEPD):c.171C>T (p.Tyr57=)
NM_000285.4(PEPD):c.177C>T (p.Thr59=)
NM_000285.4(PEPD):c.18-11T>C
NM_000285.4(PEPD):c.18-14T>C
NM_000285.4(PEPD):c.18-15C>T
NM_000285.4(PEPD):c.18-16G>T
NM_000285.4(PEPD):c.18-20G>A
NM_000285.4(PEPD):c.18-8C>G rs778269854
NM_000285.4(PEPD):c.186G>A (p.Gly62=)
NM_000285.4(PEPD):c.201+10C>T
NM_000285.4(PEPD):c.201+7C>T
NM_000285.4(PEPD):c.201+9C>T
NM_000285.4(PEPD):c.202-10C>T
NM_000285.4(PEPD):c.202-16C>A
NM_000285.4(PEPD):c.202-16C>T rs756746814
NM_000285.4(PEPD):c.202-18T>C
NM_000285.4(PEPD):c.202-19G>A
NM_000285.4(PEPD):c.202-6C>A
NM_000285.4(PEPD):c.202-8C>T
NM_000285.4(PEPD):c.213T>C (p.Phe71=)
NM_000285.4(PEPD):c.222G>A (p.Ala74=)
NM_000285.4(PEPD):c.225C>T (p.Phe75=)
NM_000285.4(PEPD):c.228T>G (p.Gly76=)
NM_000285.4(PEPD):c.24G>A (p.Ser8=) rs374014841
NM_000285.4(PEPD):c.258C>T (p.Ile86=)
NM_000285.4(PEPD):c.273G>C (p.Gly91=)
NM_000285.4(PEPD):c.282C>T (p.Thr94=)
NM_000285.4(PEPD):c.285G>C (p.Leu95=) rs1263234162
NM_000285.4(PEPD):c.285G>T (p.Leu95=)
NM_000285.4(PEPD):c.31C>T (p.Leu11=)
NM_000285.4(PEPD):c.329+14T>C
NM_000285.4(PEPD):c.330-11T>C
NM_000285.4(PEPD):c.330-12_330-11del
NM_000285.4(PEPD):c.330-13G>C rs1568504819
NM_000285.4(PEPD):c.330-16T>C
NM_000285.4(PEPD):c.330-16TG[3] rs2145335424
NM_000285.4(PEPD):c.330-17T>C
NM_000285.4(PEPD):c.330-6T>C
NM_000285.4(PEPD):c.333C>A (p.Ile111=)
NM_000285.4(PEPD):c.348C>T (p.His116=)
NM_000285.4(PEPD):c.351C>T (p.Phe117=)
NM_000285.4(PEPD):c.366C>A (p.Ala122=)
NM_000285.4(PEPD):c.372C>T (p.Asp124=)
NM_000285.4(PEPD):c.393+12G>A
NM_000285.4(PEPD):c.393+13CTC[2]
NM_000285.4(PEPD):c.393+16C>T
NM_000285.4(PEPD):c.393+17T>G
NM_000285.4(PEPD):c.393+18C>T
NM_000285.4(PEPD):c.393+8del
NM_000285.4(PEPD):c.394-10G>C
NM_000285.4(PEPD):c.394-11C>T
NM_000285.4(PEPD):c.394-5_394-3del
NM_000285.4(PEPD):c.394-8C>A
NM_000285.4(PEPD):c.411G>A (p.Thr137=)
NM_000285.4(PEPD):c.42A>G (p.Glu14=)
NM_000285.4(PEPD):c.441+10T>C
NM_000285.4(PEPD):c.441+12G>A
NM_000285.4(PEPD):c.441+19G>A
NM_000285.4(PEPD):c.441+19G>T
NM_000285.4(PEPD):c.441+20G>A
NM_000285.4(PEPD):c.442-10C>G
NM_000285.4(PEPD):c.442-10C>T
NM_000285.4(PEPD):c.442-13TC[3]
NM_000285.4(PEPD):c.442-15_442-14del
NM_000285.4(PEPD):c.442-19C>G
NM_000285.4(PEPD):c.442-4C>T
NM_000285.4(PEPD):c.442-5C>T
NM_000285.4(PEPD):c.456G>T (p.Thr152=)
NM_000285.4(PEPD):c.465C>T (p.Gly155=)
NM_000285.4(PEPD):c.471C>T (p.Val157=)
NM_000285.4(PEPD):c.483C>T (p.Ala161=)
NM_000285.4(PEPD):c.486C>T (p.Ser162=)
NM_000285.4(PEPD):c.495C>T (p.Gly165=)
NM_000285.4(PEPD):c.498C>T (p.Ile166=)
NM_000285.4(PEPD):c.503+13C>T
NM_000285.4(PEPD):c.503+16C>T
NM_000285.4(PEPD):c.503+17C>A
NM_000285.4(PEPD):c.503+18A>G
NM_000285.4(PEPD):c.503+7C>G
NM_000285.4(PEPD):c.504-15C>G
NM_000285.4(PEPD):c.504-20G>A rs1365602674
NM_000285.4(PEPD):c.504-7C>T
NM_000285.4(PEPD):c.507C>G (p.Phe169Leu)
NM_000285.4(PEPD):c.507C>T (p.Phe169=) rs377714630
NM_000285.4(PEPD):c.519T>C (p.Asn173=) rs2145297764
NM_000285.4(PEPD):c.522C>G (p.Thr174=)
NM_000285.4(PEPD):c.525T>C (p.Ile175=)
NM_000285.4(PEPD):c.531C>T (p.His177=)
NM_000285.4(PEPD):c.537G>A (p.Glu179=)
NM_000285.4(PEPD):c.540C>A (p.Ile180=)
NM_000285.4(PEPD):c.540C>T (p.Ile180=)
NM_000285.4(PEPD):c.541G>C (p.Val181Leu) rs372629704
NM_000285.4(PEPD):c.548+10G>A rs2145297652
NM_000285.4(PEPD):c.548+11C>G
NM_000285.4(PEPD):c.548+11C>T
NM_000285.4(PEPD):c.548+12C>T
NM_000285.4(PEPD):c.548+19C>T
NM_000285.4(PEPD):c.548+20A>T
NM_000285.4(PEPD):c.548+9G>A
NM_000285.4(PEPD):c.549-10G>C rs768598482
NM_000285.4(PEPD):c.549-13_549-11del
NM_000285.4(PEPD):c.549-15C>G
NM_000285.4(PEPD):c.549-16_549-3dup
NM_000285.4(PEPD):c.549-9T>C
NM_000285.4(PEPD):c.564G>A (p.Thr188=)
NM_000285.4(PEPD):c.591T>C (p.Tyr197=)
NM_000285.4(PEPD):c.615C>T (p.Ala205=)
NM_000285.4(PEPD):c.624+15G>C
NM_000285.4(PEPD):c.624+18T>C
NM_000285.4(PEPD):c.624+19C>T
NM_000285.4(PEPD):c.625-10C>T
NM_000285.4(PEPD):c.625-11C>T
NM_000285.4(PEPD):c.625-13A>G
NM_000285.4(PEPD):c.625-6C>T rs1415588917
NM_000285.4(PEPD):c.636T>C (p.Ala212=)
NM_000285.4(PEPD):c.63G>A (p.Ala21=)
NM_000285.4(PEPD):c.66C>T (p.Leu22=)
NM_000285.4(PEPD):c.671+11A>G
NM_000285.4(PEPD):c.671+13G>C
NM_000285.4(PEPD):c.671+15T>C rs2145271688
NM_000285.4(PEPD):c.671+19C>T
NM_000285.4(PEPD):c.671+20C>T
NM_000285.4(PEPD):c.671+8A>G
NM_000285.4(PEPD):c.672-14C>T
NM_000285.4(PEPD):c.672-17C>A
NM_000285.4(PEPD):c.672-19C>G
NM_000285.4(PEPD):c.672-19C>T
NM_000285.4(PEPD):c.672-6C>T
NM_000285.4(PEPD):c.672-8C>T
NM_000285.4(PEPD):c.684C>T (p.His228=)
NM_000285.4(PEPD):c.687C>T (p.Tyr229=)
NM_000285.4(PEPD):c.693C>T (p.Tyr231=)
NM_000285.4(PEPD):c.702C>G (p.Gly234=)
NM_000285.4(PEPD):c.702C>T (p.Gly234=) rs753617751
NM_000285.4(PEPD):c.705C>T (p.Gly235=)
NM_000285.4(PEPD):c.729C>T (p.Cys243=)
NM_000285.4(PEPD):c.72C>T (p.Ala24=)
NM_000285.4(PEPD):c.735C>T (p.Cys245=)
NM_000285.4(PEPD):c.740+10G>A
NM_000285.4(PEPD):c.740+11C>T
NM_000285.4(PEPD):c.740+17G>A
NM_000285.4(PEPD):c.740+5G>A
NM_000285.4(PEPD):c.741-13C>T
NM_000285.4(PEPD):c.741-15C>T
NM_000285.4(PEPD):c.741-19C>T
NM_000285.4(PEPD):c.753A>G (p.Ser251=)
NM_000285.4(PEPD):c.753A>T (p.Ser251=)
NM_000285.4(PEPD):c.768C>T (p.Tyr256=) rs149406115
NM_000285.4(PEPD):c.771A>T (p.Gly257=)
NM_000285.4(PEPD):c.777C>A (p.Ala259=)
NM_000285.4(PEPD):c.786C>T (p.Pro262=)
NM_000285.4(PEPD):c.789C>T (p.Asn263=)
NM_000285.4(PEPD):c.818+12C>T
NM_000285.4(PEPD):c.818+15C>T
NM_000285.4(PEPD):c.818+16G>A
NM_000285.4(PEPD):c.818+17G>C
NM_000285.4(PEPD):c.818+17G>T
NM_000285.4(PEPD):c.819-11T>G
NM_000285.4(PEPD):c.819-14T>A
NM_000285.4(PEPD):c.819-16C>G
NM_000285.4(PEPD):c.819-20C>A
NM_000285.4(PEPD):c.819-5C>T
NM_000285.4(PEPD):c.819-8C>T
NM_000285.4(PEPD):c.81G>A (p.Arg27=)
NM_000285.4(PEPD):c.825C>T (p.Phe275=)
NM_000285.4(PEPD):c.828C>T (p.Asp276=)
NM_000285.4(PEPD):c.840G>A (p.Glu280=)
NM_000285.4(PEPD):c.843T>C (p.Tyr281=)
NM_000285.4(PEPD):c.852C>T (p.Phe284=)
NM_000285.4(PEPD):c.864C>T (p.Ile288=)
NM_000285.4(PEPD):c.867C>T (p.Thr289=)
NM_000285.4(PEPD):c.870C>T (p.Cys290=)
NM_000285.4(PEPD):c.873C>G (p.Ser291=)
NM_000285.4(PEPD):c.894C>T (p.Phe298=)
NM_000285.4(PEPD):c.90G>T (p.Leu30=)
NM_000285.4(PEPD):c.918T>C (p.Tyr306=)
NM_000285.4(PEPD):c.927G>A (p.Val309=)
NM_000285.4(PEPD):c.928C>T (p.Leu310=)
NM_000285.4(PEPD):c.945C>A (p.Ala315=)
NM_000285.4(PEPD):c.954T>C (p.Gly318=)
NM_000285.4(PEPD):c.967+14C>T
NM_000285.4(PEPD):c.967+15G>C
NM_000285.4(PEPD):c.967+15G>T
NM_000285.4(PEPD):c.967+17T>C
NM_000285.4(PEPD):c.967+18G>T
NM_000285.4(PEPD):c.967+19G>C
NM_000285.4(PEPD):c.967+19G>T
NM_000285.4(PEPD):c.967+20G>A
NM_000285.4(PEPD):c.967+8G>C
NM_000285.4(PEPD):c.967+9C>A
NM_000285.4(PEPD):c.968-14C>T
NM_000285.4(PEPD):c.968-17C>G
NM_000285.4(PEPD):c.968-18G>C
NM_000285.4(PEPD):c.97C>A (p.Arg33=)
NM_000285.4(PEPD):c.981T>C (p.Pro327=)
NM_000285.4(PEPD):c.990C>T (p.His330=)
NM_000285.4(PEPD):c.994C>T (p.Leu332=)
NM_000285.4(PEPD):c.99G>C (p.Arg33=)
NM_000285.4(PEPD):c.9G>A (p.Ala3=)

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