NM_005859.5(PURA):c.155G>A (p.Gly52Glu)
|
rs763614822
|
0.00001
|
NM_005859.5(PURA):c.394C>G (p.Leu132Val)
|
rs746218892
|
0.00001
|
NM_005859.5(PURA):c.79G>C (p.Gly27Arg)
|
rs1470806491
|
0.00001
|
NM_005859.5(PURA):c.847G>C (p.Glu283Gln)
|
rs750482815
|
0.00001
|
NM_005859.5(PURA):c.919G>A (p.Ala307Thr)
|
rs751843411
|
0.00001
|
NC_000005.9:g.(?_136633338)_(140998481_?)dup
|
|
|
NC_000005.9:g.(?_136957787)_(140078137_?)dup
|
|
|
NM_005859.5(PURA):c.102TGG[3] (p.Gly42_Ser43insGly)
|
|
|
NM_005859.5(PURA):c.102_113del (p.Gly39_Gly42del)
|
rs1053480508
|
|
NM_005859.5(PURA):c.102_119del (p.Gly37_Gly42del)
|
rs1184201512
|
|
NM_005859.5(PURA):c.102_125del (p.Gly35_Gly42del)
|
|
|
NM_005859.5(PURA):c.102_137dup (p.Gly49_Ala50insGlyGlyGlyGlyGlySerGlyGlyGlyGlyGlyGly)
|
|
|
NM_005859.5(PURA):c.108_113del (p.Gly41_Gly42del)
|
|
|
NM_005859.5(PURA):c.109G>T (p.Gly37Cys)
|
rs1763037641
|
|
NM_005859.5(PURA):c.109_126dup (p.Gly42_Ser43insGlyGlyGlyGlyGlyGly)
|
|
|
NM_005859.5(PURA):c.112_126dup (p.Gly38_Gly42dup)
|
rs1561793030
|
|
NM_005859.5(PURA):c.114_119del (p.Gly41_Gly42del)
|
rs2126748653
|
|
NM_005859.5(PURA):c.114_122dup (p.Gly40_Gly42dup)
|
rs761730239
|
|
NM_005859.5(PURA):c.114_125del (p.Gly39_Gly42del)
|
|
|
NM_005859.5(PURA):c.114_140del (p.Gly41_Gly49del)
|
rs1271325628
|
|
NM_005859.5(PURA):c.114_140dup (p.Gly49_Ala50insGlyGlySerGlyGlyGlyGlyGlyGly)
|
|
|
NM_005859.5(PURA):c.127_138dup (p.Ser43_Gly46dup)
|
rs756194966
|
|
NM_005859.5(PURA):c.129T>C (p.Ser43=)
|
|
|
NM_005859.5(PURA):c.132CGG[8] (p.Gly49_Ala50insGlyGlyGly)
|
|
|
NM_005859.5(PURA):c.180G>A (p.Glu60=)
|
|
|
NM_005859.5(PURA):c.185C>T (p.Ala62Val)
|
rs2126748800
|
|
NM_005859.5(PURA):c.194G>T (p.Arg65Leu)
|
|
|
NM_005859.5(PURA):c.197T>A (p.Val66Glu)
|
|
|
NM_005859.5(PURA):c.203_211del (p.Ile68_Asn70del)
|
|
|
NM_005859.5(PURA):c.232A>G (p.Lys78Glu)
|
|
|
NM_005859.5(PURA):c.236A>C (p.Gln79Pro)
|
|
|
NM_005859.5(PURA):c.275G>C (p.Gly92Ala)
|
rs2126748878
|
|
NM_005859.5(PURA):c.29A>T (p.Gln10Leu)
|
|
|
NM_005859.5(PURA):c.305T>C (p.Leu102Pro)
|
rs793888531
|
|
NM_005859.5(PURA):c.34G>T (p.Gly12Cys)
|
rs2126748529
|
|
NM_005859.5(PURA):c.363C>T (p.Tyr121=)
|
|
|
NM_005859.5(PURA):c.385C>T (p.Pro129Ser)
|
rs1763045680
|
|
NM_005859.5(PURA):c.38C>T (p.Ala13Val)
|
|
|
NM_005859.5(PURA):c.419G>C (p.Arg140Pro)
|
rs793888536
|
|
NM_005859.5(PURA):c.425C>A (p.Ala142Glu)
|
|
|
NM_005859.5(PURA):c.426G>C (p.Ala142=)
|
|
|
NM_005859.5(PURA):c.436G>A (p.Glu146Lys)
|
rs1763047012
|
|
NM_005859.5(PURA):c.43C>A (p.Leu15Met)
|
rs923665124
|
|
NM_005859.5(PURA):c.43C>G (p.Leu15Val)
|
|
|
NM_005859.5(PURA):c.441C>T (p.Phe147=)
|
|
|
NM_005859.5(PURA):c.456C>T (p.Asn152=)
|
|
|
NM_005859.5(PURA):c.458G>C (p.Arg153Pro)
|
rs886039610
|
|
NM_005859.5(PURA):c.461A>G (p.Lys154Arg)
|
|
|
NM_005859.5(PURA):c.478_480del (p.Lys160del)
|
rs1763048440
|
|
NM_005859.5(PURA):c.493G>A (p.Gly165Ser)
|
rs1561793272
|
|
NM_005859.5(PURA):c.508A>T (p.Ile170Phe)
|
|
|
NM_005859.5(PURA):c.518C>A (p.Thr173Lys)
|
rs745982412
|
|
NM_005859.5(PURA):c.524A>G (p.Asn175Ser)
|
|
|
NM_005859.5(PURA):c.547A>G (p.Thr183Ala)
|
|
|
NM_005859.5(PURA):c.54C>T (p.Gly18=)
|
|
|
NM_005859.5(PURA):c.55G>A (p.Gly19Ser)
|
rs2126748559
|
|
NM_005859.5(PURA):c.585C>T (p.Leu195=)
|
|
|
NM_005859.5(PURA):c.58T>C (p.Ser20Pro)
|
rs1763035593
|
|
NM_005859.5(PURA):c.595C>T (p.Arg199Cys)
|
rs1763051347
|
|
NM_005859.5(PURA):c.626A>T (p.Tyr209Phe)
|
|
|
NM_005859.5(PURA):c.634G>C (p.Glu212Gln)
|
rs1561793355
|
|
NM_005859.5(PURA):c.638A>T (p.Glu213Val)
|
rs1763052435
|
|
NM_005859.5(PURA):c.651G>T (p.Glu217Asp)
|
|
|
NM_005859.5(PURA):c.65G>A (p.Gly22Glu)
|
rs2126748571
|
|
NM_005859.5(PURA):c.666C>T (p.Thr222=)
|
|
|
NM_005859.5(PURA):c.66G>C (p.Gly22=)
|
|
|
NM_005859.5(PURA):c.674C>T (p.Thr225Ile)
|
rs1763053031
|
|
NM_005859.5(PURA):c.692T>G (p.Phe231Cys)
|
rs1554129113
|
|
NM_005859.5(PURA):c.6G>C (p.Ala2=)
|
|
|
NM_005859.5(PURA):c.72C>T (p.Pro24=)
|
|
|
NM_005859.5(PURA):c.73G>A (p.Gly25Ser)
|
rs1561792992
|
|
NM_005859.5(PURA):c.757T>G (p.Tyr253Asp)
|
|
|
NM_005859.5(PURA):c.762C>A (p.Arg254=)
|
|
|
NM_005859.5(PURA):c.763A>G (p.Asn255Asp)
|
|
|
NM_005859.5(PURA):c.769A>G (p.Ile257Val)
|
rs770307150
|
|
NM_005859.5(PURA):c.779C>T (p.Pro260Leu)
|
rs1064795567
|
|
NM_005859.5(PURA):c.77C>T (p.Ser26Leu)
|
rs1763036339
|
|
NM_005859.5(PURA):c.787_789del (p.Val263del)
|
rs1581036663
|
|
NM_005859.5(PURA):c.78G>A (p.Ser26=)
|
|
|
NM_005859.5(PURA):c.849G>C (p.Glu283Asp)
|
|
|
NM_005859.5(PURA):c.851A>C (p.Lys284Thr)
|
|
|
NM_005859.5(PURA):c.869C>T (p.Ala290Val)
|
|
|
NM_005859.5(PURA):c.872C>T (p.Ala291Val)
|
|
|
NM_005859.5(PURA):c.875G>C (p.Cys292Ser)
|
|
|
NM_005859.5(PURA):c.884_892del (p.Leu295_Gln297del)
|
rs1763056656
|
|
NM_005859.5(PURA):c.88_93del (p.26SG[2])
|
rs1763036497
|
|
NM_005859.5(PURA):c.900G>A (p.Gln300=)
|
|
|
NM_005859.5(PURA):c.922G>A (p.Ala308Thr)
|
rs1286829864
|
|
NM_005859.5(PURA):c.923C>T (p.Ala308Val)
|
|
|
NM_005859.5(PURA):c.941A>C (p.Gln314Pro)
|
rs1763059029
|
|
NM_005859.5(PURA):c.948G>A (p.Glu316=)
|
|
|
NM_005859.5(PURA):c.950A>T (p.Glu317Val)
|
rs1581036746
|
|
NM_005859.5(PURA):c.951A>C (p.Glu317Asp)
|
|
|
NM_005859.5(PURA):c.956_964del (p.Gly319_Glu321del)
|
rs2126749514
|
|
NM_005859.5(PURA):c.957G>A (p.Gly319=)
|
|
|