List of variants in gene ALDH4A1 studied for Deficiency of pyrroline-5-carboxylate reductase

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

Total variants: 126

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HGVS	dbSNP
NC_000001.10:g.(?_19199319)_(19204126_?)dup
NM_003748.4(ALDH4A1):c.*1040C>T
NM_003748.4(ALDH4A1):c.*1041G>A
NM_003748.4(ALDH4A1):c.*1152G>T	rs886045702
NM_003748.4(ALDH4A1):c.*1173C>T	rs115664776
NM_003748.4(ALDH4A1):c.*1182G>C
NM_003748.4(ALDH4A1):c.*118G>A	rs11740
NM_003748.4(ALDH4A1):c.*1197C>G	rs7419135
NM_003748.4(ALDH4A1):c.*1198A>G	rs7366541
NM_003748.4(ALDH4A1):c.*1199A>C	rs886045701
NM_003748.4(ALDH4A1):c.*122T>C	rs2230712
NM_003748.4(ALDH4A1):c.*1239G>C	rs1138328
NM_003748.4(ALDH4A1):c.*1275A>C	rs1138333
NM_003748.4(ALDH4A1):c.*189G>A	rs11484737
NM_003748.4(ALDH4A1):c.*19C>T
NM_003748.4(ALDH4A1):c.*210C>A	rs886045705
NM_003748.4(ALDH4A1):c.*223G>A	rs553318512
NM_003748.4(ALDH4A1):c.*272C>T	rs41273171
NM_003748.4(ALDH4A1):c.*35C>T	rs2230710
NM_003748.4(ALDH4A1):c.*367C>T
NM_003748.4(ALDH4A1):c.*444T>C	rs9117
NM_003748.4(ALDH4A1):c.*464G>A	rs536186688
NM_003748.4(ALDH4A1):c.*502A>G	rs1802783
NM_003748.4(ALDH4A1):c.*646G>A	rs567528405
NM_003748.4(ALDH4A1):c.*690G>A	rs886045704
NM_003748.4(ALDH4A1):c.*702C>T	rs3202002
NM_003748.4(ALDH4A1):c.*711C>G
NM_003748.4(ALDH4A1):c.*712C>T	rs14311
NM_003748.4(ALDH4A1):c.*719C>T	rs778905588
NM_003748.4(ALDH4A1):c.*763T>C	rs1138267
NM_003748.4(ALDH4A1):c.*776C>T
NM_003748.4(ALDH4A1):c.*900G>C
NM_003748.4(ALDH4A1):c.*903C>T	rs148846466
NM_003748.4(ALDH4A1):c.*921G>A	rs1138269
NM_003748.4(ALDH4A1):c.*925C>T	rs1140477
NM_003748.4(ALDH4A1):c.*944C>T	rs886045703
NM_003748.4(ALDH4A1):c.*9C>T	rs138534161
NM_003748.4(ALDH4A1):c.-24G>A	rs886045707
NM_003748.4(ALDH4A1):c.-26G>T	rs536547354
NM_003748.4(ALDH4A1):c.-4C>A	rs9426797
NM_003748.4(ALDH4A1):c.-7A>G	rs9426679
NM_003748.4(ALDH4A1):c.102C>T (p.Asn34=)	rs148778436
NM_003748.4(ALDH4A1):c.1050G>C (p.Ala350=)	rs2230705
NM_003748.4(ALDH4A1):c.1055C>T (p.Ser352Leu)	rs137852937
NM_003748.4(ALDH4A1):c.1070C>T (p.Pro357Leu)
NM_003748.4(ALDH4A1):c.1073A>G (p.His358Arg)	rs145243354
NM_003748.4(ALDH4A1):c.1082G>C (p.Trp361Ser)	rs763793413
NM_003748.4(ALDH4A1):c.1086G>A (p.Pro362=)	rs41310410
NM_003748.4(ALDH4A1):c.1086G>C (p.Pro362=)	rs41310410
NM_003748.4(ALDH4A1):c.108C>T (p.Pro36=)	rs768297819
NM_003748.4(ALDH4A1):c.1093A>C (p.Lys365Gln)	rs770756077
NM_003748.4(ALDH4A1):c.1096G>A (p.Gly366Arg)	rs41306567
NM_003748.4(ALDH4A1):c.1098G>A (p.Gly366=)	rs147471420
NM_003748.4(ALDH4A1):c.1099C>T (p.Arg367Trp)
NM_003748.4(ALDH4A1):c.1137C>T (p.Asp379=)
NM_003748.4(ALDH4A1):c.1162T>C (p.Phe388Leu)	rs41273175
NM_003748.4(ALDH4A1):c.1185+10G>A
NM_003748.4(ALDH4A1):c.1186-11G>A
NM_003748.4(ALDH4A1):c.1195C>T (p.Arg399Cys)
NM_003748.4(ALDH4A1):c.1196G>A (p.Arg399His)
NM_003748.4(ALDH4A1):c.1212G>A (p.Leu404=)
NM_003748.4(ALDH4A1):c.1218C>T (p.His406=)	rs111291014
NM_003748.4(ALDH4A1):c.1221A>G (p.Ala407=)	rs2230706
NM_003748.4(ALDH4A1):c.1230A>G (p.Ser410=)	rs7550938
NM_003748.4(ALDH4A1):c.1236C>G (p.Ser412Arg)	rs201762741
NM_003748.4(ALDH4A1):c.1251C>T (p.Ala417=)	rs2230707
NM_003748.4(ALDH4A1):c.1252G>C (p.Gly418Arg)	rs148586081
NM_003748.4(ALDH4A1):c.1261T>C (p.Cys421Arg)	rs149414160
NM_003748.4(ALDH4A1):c.1348G>A (p.Gly450Arg)
NM_003748.4(ALDH4A1):c.135T>G (p.Pro45=)	rs147154947
NM_003748.4(ALDH4A1):c.1369G>A (p.Val457Ile)	rs199828375
NM_003748.4(ALDH4A1):c.1377G>C (p.Pro459=)	rs146222625
NM_003748.4(ALDH4A1):c.1380T>C (p.Asp460=)	rs2230708
NM_003748.4(ALDH4A1):c.1381G>A (p.Asp461Asn)	rs377270740
NM_003748.4(ALDH4A1):c.1385A>C (p.Lys462Thr)	rs150762865
NM_003748.4(ALDH4A1):c.1408G>A (p.Val470Ile)	rs2230709
NM_003748.4(ALDH4A1):c.1417A>G (p.Thr473Ala)	rs6695033
NM_003748.4(ALDH4A1):c.1439G>A (p.Gly480Glu)	rs762708368
NM_003748.4(ALDH4A1):c.1460+15C>T
NM_003748.4(ALDH4A1):c.150G>A (p.Leu50=)
NM_003748.4(ALDH4A1):c.1548C>T (p.Gly516=)	rs61749348
NM_003748.4(ALDH4A1):c.1560dup (p.Gly521fs)	rs779536510
NM_003748.4(ALDH4A1):c.157-14G>A
NM_003748.4(ALDH4A1):c.1571G>A (p.Arg524Gln)
NM_003748.4(ALDH4A1):c.1580-5C>T
NM_003748.4(ALDH4A1):c.1583C>A (p.Thr528Asn)	rs61757683
NM_003748.4(ALDH4A1):c.1624A>G (p.Thr542Ala)
NM_003748.4(ALDH4A1):c.1625C>T (p.Thr542Met)	rs771061582
NM_003748.4(ALDH4A1):c.1631C>T (p.Pro544Leu)	rs72953172
NM_003748.4(ALDH4A1):c.1632G>A (p.Pro544=)
NM_003748.4(ALDH4A1):c.1678G>A (p.Ala560Thr)
NM_003748.4(ALDH4A1):c.1681T>A (p.Tyr561Asn)	rs528211463
NM_003748.4(ALDH4A1):c.16C>T (p.Pro6Ser)
NM_003748.4(ALDH4A1):c.198C>T (p.Cys66=)
NM_003748.4(ALDH4A1):c.199G>A (p.Val67Met)
NM_003748.4(ALDH4A1):c.21del (p.Leu8fs)	rs387906314
NM_003748.4(ALDH4A1):c.225G>A (p.Thr75=)	rs79920636
NM_003748.4(ALDH4A1):c.228G>A (p.Ser76=)	rs145686117
NM_003748.4(ALDH4A1):c.244G>A (p.Val82Met)	rs76762510
NM_003748.4(ALDH4A1):c.250-6T>A
NM_003748.4(ALDH4A1):c.298-14C>T
NM_003748.4(ALDH4A1):c.298-1G>C	rs1557620472
NM_003748.4(ALDH4A1):c.337C>T (p.Arg113Trp)	rs142923662
NM_003748.4(ALDH4A1):c.362T>C (p.Ile121Thr)
NM_003748.4(ALDH4A1):c.369C>G (p.Asp123Glu)	rs147600006
NM_003748.4(ALDH4A1):c.381C>G (p.Ile127Met)
NM_003748.4(ALDH4A1):c.397G>T (p.Asp133Tyr)
NM_003748.4(ALDH4A1):c.413C>T (p.Pro138Leu)	rs139640415
NM_003748.4(ALDH4A1):c.421G>A (p.Ala141Thr)	rs377259750
NM_003748.4(ALDH4A1):c.433G>A (p.Ala145Thr)	rs113846237
NM_003748.4(ALDH4A1):c.446T>A (p.Val149Glu)	rs886045706
NM_003748.4(ALDH4A1):c.47C>T (p.Pro16Leu)	rs146450609
NM_003748.4(ALDH4A1):c.487G>A (p.Ala163Thr)	rs201780333
NM_003748.4(ALDH4A1):c.490G>C (p.Ala164Pro)	rs369957092
NM_003748.4(ALDH4A1):c.584C>T (p.Thr195Met)	rs72936434
NM_003748.4(ALDH4A1):c.59C>A (p.Ala20Asp)
NM_003748.4(ALDH4A1):c.648C>T (p.Gly216=)	rs139340058
NM_003748.4(ALDH4A1):c.678+3G>A	rs138788183
NM_003748.4(ALDH4A1):c.698A>G (p.Lys233Arg)
NM_003748.4(ALDH4A1):c.740G>T (p.Arg247Leu)
NM_003748.4(ALDH4A1):c.744C>T (p.Ile248=)	rs60427141
NM_003748.4(ALDH4A1):c.800C>A (p.Pro267His)	rs141843191
NM_003748.4(ALDH4A1):c.842G>T (p.Gly281Val)
NM_003748.4(ALDH4A1):c.866+1G>A	rs78532707
NM_003748.4(ALDH4A1):c.876A>G (p.Lys292=)
NM_003748.4(ALDH4A1):c.974G>A (p.Arg325His)

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