NM_000543.5(SMPD1):c.533T>A (p.Ile178Asn)
|
rs749780769
|
0.00004
|
NM_000543.5(SMPD1):c.730G>A (p.Gly244Arg)
|
rs120074122
|
0.00003
|
NM_000543.5(SMPD1):c.1297T>C (p.Cys433Arg)
|
rs779528546
|
0.00001
|
NM_000543.5(SMPD1):c.1341-1G>A
|
rs1057516854
|
0.00001
|
NM_000543.5(SMPD1):c.1427G>A (p.Arg476Gln)
|
rs763566905
|
0.00001
|
NM_000543.5(SMPD1):c.1801G>A (p.Ala601Thr)
|
rs750433951
|
0.00001
|
NM_000543.5(SMPD1):c.1804C>T (p.Arg602Cys)
|
rs763099671
|
0.00001
|
NM_000543.5(SMPD1):c.319-1G>A
|
rs1352986086
|
0.00001
|
NM_000543.5(SMPD1):c.491G>T (p.Gly164Val)
|
rs1047531932
|
0.00001
|
NM_000543.5(SMPD1):c.1026G>C (p.Trp342Cys)
|
rs281860668
|
|
NM_000543.5(SMPD1):c.1076C>T (p.Ala359Val)
|
rs797044800
|
|
NM_000543.5(SMPD1):c.1091+1G>A
|
rs1847955457
|
|
NM_000543.5(SMPD1):c.1132C>A (p.Arg378Ser)
|
|
|
NM_000543.5(SMPD1):c.1132C>T (p.Arg378Cys)
|
rs369088417
|
|
NM_000543.5(SMPD1):c.1144C>G (p.Leu382Val)
|
|
|
NM_000543.5(SMPD1):c.1144C>T (p.Leu382Phe)
|
rs281860666
|
|
NM_000543.5(SMPD1):c.1154A>G (p.Asn385Ser)
|
rs120074123
|
|
NM_000543.5(SMPD1):c.1154A>T (p.Asn385Ile)
|
|
|
NM_000543.5(SMPD1):c.1263+1G>A
|
rs2134018090
|
|
NM_000543.5(SMPD1):c.1264-1G>A
|
rs1057516454
|
|
NM_000543.5(SMPD1):c.1264-1G>T
|
rs1057516454
|
|
NM_000543.5(SMPD1):c.1264-2A>G
|
rs774309925
|
|
NM_000543.5(SMPD1):c.1279C>A (p.His427Asn)
|
rs760930408
|
|
NM_000543.5(SMPD1):c.1279C>T (p.His427Tyr)
|
|
|
NM_000543.5(SMPD1):c.1280A>T (p.His427Leu)
|
rs794727629
|
|
NM_000543.5(SMPD1):c.1286C>T (p.Pro429Leu)
|
rs281860669
|
|
NM_000543.5(SMPD1):c.1288C>G (p.Pro430Ala)
|
|
|
NM_000543.5(SMPD1):c.1288C>T (p.Pro430Ser)
|
rs140688153
|
|
NM_000543.5(SMPD1):c.1289C>T (p.Pro430Leu)
|
|
|
NM_000543.5(SMPD1):c.1340+2T>C
|
|
|
NM_000543.5(SMPD1):c.1340+2T>G
|
rs1301641750
|
|
NM_000543.5(SMPD1):c.1340+2_1340+9del
|
|
|
NM_000543.5(SMPD1):c.1341-21_1341-18del
|
|
|
NM_000543.5(SMPD1):c.1358C>A (p.Ala453Asp)
|
|
|
NM_000543.5(SMPD1):c.1378A>C (p.Thr460Pro)
|
rs794727705
|
|
NM_000543.5(SMPD1):c.1393T>C (p.Phe465Leu)
|
rs1258231226
|
|
NM_000543.5(SMPD1):c.1395T>G (p.Phe465Leu)
|
rs1848061944
|
|
NM_000543.5(SMPD1):c.1406A>G (p.Tyr469Cys)
|
rs267607074
|
|
NM_000543.5(SMPD1):c.1430C>A (p.Pro477Gln)
|
rs753508874
|
|
NM_000543.5(SMPD1):c.1457G>A (p.Ser486Asn)
|
rs2134021618
|
|
NM_000543.5(SMPD1):c.1486+5G>C
|
|
|
NM_000543.5(SMPD1):c.1492C>A (p.Arg498Ser)
|
|
|
NM_000543.5(SMPD1):c.1493G>C (p.Arg498Pro)
|
rs120074117
|
|
NM_000543.5(SMPD1):c.1546C>T (p.His516Tyr)
|
|
|
NM_000543.5(SMPD1):c.1547A>T (p.His516Leu)
|
|
|
NM_000543.5(SMPD1):c.1556A>G (p.Tyr519Cys)
|
rs371837210
|
|
NM_000543.5(SMPD1):c.1736G>A (p.Gly579Asp)
|
|
|
NM_000543.5(SMPD1):c.1804del (p.Arg602fs)
|
rs1848099900
|
|
NM_000543.5(SMPD1):c.1828C>T (p.Arg610Cys)
|
|
|
NM_000543.5(SMPD1):c.1829G>A (p.Arg610His)
|
|
|
NM_000543.5(SMPD1):c.318+2T>C
|
rs1225462507
|
|
NM_000543.5(SMPD1):c.319-2A>G
|
|
|
NM_000543.5(SMPD1):c.476G>A (p.Cys159Tyr)
|
|
|
NM_000543.5(SMPD1):c.610C>A (p.Leu204Ile)
|
|
|
NM_000543.5(SMPD1):c.611T>A (p.Leu204His)
|
rs2134010621
|
|
NM_000543.5(SMPD1):c.631T>C (p.Trp211Arg)
|
|
|
NM_000543.5(SMPD1):c.633G>C (p.Trp211Cys)
|
|
|
NM_000543.5(SMPD1):c.667T>G (p.Cys223Gly)
|
rs1847923379
|
|
NM_000543.5(SMPD1):c.688C>A (p.Arg230Ser)
|
|
|
NM_000543.5(SMPD1):c.731G>A (p.Gly244Glu)
|
|
|
NM_000543.5(SMPD1):c.731G>C (p.Gly244Ala)
|
rs2134011288
|
|
NM_000543.5(SMPD1):c.749G>A (p.Ser250Asn)
|
|
|
NM_000543.5(SMPD1):c.840C>G (p.Asp280Glu)
|
rs2134011919
|
|
NM_000543.5(SMPD1):c.910C>G (p.Leu304Val)
|
rs2134012389
|
|
NM_000543.5(SMPD1):c.910C>T (p.Leu304Phe)
|
rs2134012389
|
|
NM_000543.5(SMPD1):c.941T>C (p.Val314Ala)
|
|
|
NM_000543.5(SMPD1):c.961C>T (p.His321Tyr)
|
rs2134012749
|
|
NM_000543.5(SMPD1):c.973C>T (p.Pro325Ser)
|
|
|
NM_000543.5(SMPD1):c.994C>G (p.Pro332Ala)
|
|
|
NM_000543.5(SMPD1):c.994C>T (p.Pro332Ser)
|
|
|
NM_000543.5(SMPD1):c.995C>A (p.Pro332His)
|
|
|
NM_000543.5(SMPD1):c.995C>T (p.Pro332Leu)
|
rs202081954
|
|