NM_000478.6(ALPL):c.1100C>T (p.Ser367Phe)
|
rs1300239598
|
0.00001
|
NM_000478.6(ALPL):c.1166C>A (p.Thr389Asn)
|
rs746390776
|
0.00001
|
NM_000478.6(ALPL):c.1271T>C (p.Val424Ala)
|
rs1436960562
|
0.00001
|
NM_000478.6(ALPL):c.127C>T (p.Leu43Phe)
|
rs148357203
|
0.00001
|
NM_000478.6(ALPL):c.1415A>G (p.His472Arg)
|
rs1644755133
|
0.00001
|
NM_000478.6(ALPL):c.331G>A (p.Ala111Thr)
|
rs773257111
|
0.00001
|
NM_000478.6(ALPL):c.352C>A (p.Leu118Met)
|
rs1284058976
|
0.00001
|
NM_000478.6(ALPL):c.422C>T (p.Thr141Ile)
|
rs916300043
|
0.00001
|
NM_000478.6(ALPL):c.454C>T (p.Arg152Cys)
|
rs200621180
|
0.00001
|
NM_000478.6(ALPL):c.629A>G (p.His210Arg)
|
rs748031071
|
0.00001
|
NM_000478.6(ALPL):c.745G>A (p.Gly249Ser)
|
rs770539523
|
0.00001
|
NM_000478.6(ALPL):c.884T>C (p.Met295Thr)
|
rs1220125702
|
0.00001
|
NC_000001.10:g.(?_21880585)_(21884063_?)del
|
|
|
NC_000001.11:g.(?_21573655)_(21573809_?)del
|
|
|
NC_000001.11:g.(?_21575723)_(21575934_?)del
|
|
|
NM_000478.6(ALPL):c.1000G>A (p.Gly334Ser)
|
|
|
NM_000478.6(ALPL):c.1004G>C (p.Arg335Thr)
|
rs1057524727
|
|
NM_000478.6(ALPL):c.1007T>C (p.Ile336Thr)
|
rs1644719271
|
|
NM_000478.6(ALPL):c.106A>C (p.Thr36Pro)
|
rs747167000
|
|
NM_000478.6(ALPL):c.1075A>G (p.Ile359Val)
|
|
|
NM_000478.6(ALPL):c.1099T>A (p.Ser367Thr)
|
|
|
NM_000478.6(ALPL):c.110T>C (p.Leu37Pro)
|
|
|
NM_000478.6(ALPL):c.1112C>T (p.Thr371Ile)
|
|
|
NM_000478.6(ALPL):c.1137T>G (p.His379Gln)
|
|
|
NM_000478.6(ALPL):c.1143C>G (p.His381Gln)
|
rs749419329
|
|
NM_000478.6(ALPL):c.1145T>A (p.Val382Asp)
|
rs2148190075
|
|
NM_000478.6(ALPL):c.1162T>G (p.Tyr388Asp)
|
|
|
NM_000478.6(ALPL):c.1163A>G (p.Tyr388Cys)
|
rs1644722925
|
|
NM_000478.6(ALPL):c.1165A>C (p.Thr389Pro)
|
|
|
NM_000478.6(ALPL):c.1171C>A (p.Arg391Ser)
|
|
|
NM_000478.6(ALPL):c.1183A>T (p.Ile395Phe)
|
rs772682471
|
|
NM_000478.6(ALPL):c.1189+5del
|
rs1208855163
|
|
NM_000478.6(ALPL):c.118G>A (p.Ala40Thr)
|
rs1455153945
|
|
NM_000478.6(ALPL):c.1195G>T (p.Ala399Ser)
|
rs2148192290
|
|
NM_000478.6(ALPL):c.1217A>G (p.Asp406Gly)
|
|
|
NM_000478.6(ALPL):c.1240C>G (p.Leu414Val)
|
|
|
NM_000478.6(ALPL):c.1241T>C (p.Leu414Pro)
|
|
|
NM_000478.6(ALPL):c.1267G>A (p.Val423Met)
|
|
|
NM_000478.6(ALPL):c.1268T>C (p.Val423Ala)
|
rs2148192552
|
|
NM_000478.6(ALPL):c.1285G>A (p.Glu429Lys)
|
rs1553414868
|
|
NM_000478.6(ALPL):c.1292T>C (p.Val431Ala)
|
|
|
NM_000478.6(ALPL):c.1336G>A (p.Ala446Thr)
|
rs2148194520
|
|
NM_000478.6(ALPL):c.1340T>C (p.Val447Ala)
|
rs1570309482
|
|
NM_000478.6(ALPL):c.1356G>T (p.Glu452Asp)
|
|
|
NM_000478.6(ALPL):c.1360C>T (p.His454Tyr)
|
rs2148194615
|
|
NM_000478.6(ALPL):c.1367G>A (p.Gly456Glu)
|
rs1644753808
|
|
NM_000478.6(ALPL):c.1396C>G (p.Pro466Ala)
|
|
|
NM_000478.6(ALPL):c.1397C>G (p.Pro466Arg)
|
|
|
NM_000478.6(ALPL):c.1400T>C (p.Met467Thr)
|
rs763073466
|
|
NM_000478.6(ALPL):c.1402G>T (p.Ala468Ser)
|
rs1196976671
|
|
NM_000478.6(ALPL):c.1426G>C (p.Glu476Gln)
|
rs1057517173
|
|
NM_000478.6(ALPL):c.1427A>G (p.Glu476Gly)
|
rs2148195004
|
|
NM_000478.6(ALPL):c.1444C>T (p.His482Tyr)
|
|
|
NM_000478.6(ALPL):c.145A>G (p.Asn49Asp)
|
|
|
NM_000478.6(ALPL):c.1468A>T (p.Ile490Phe)
|
|
|
NM_000478.6(ALPL):c.152C>T (p.Ala51Val)
|
|
|
NM_000478.6(ALPL):c.176G>A (p.Gly59Glu)
|
|
|
NM_000478.6(ALPL):c.182G>A (p.Gly61Glu)
|
|
|
NM_000478.6(ALPL):c.187G>T (p.Gly63Cys)
|
|
|
NM_000478.6(ALPL):c.188G>T (p.Gly63Val)
|
rs1490668038
|
|
NM_000478.6(ALPL):c.212G>C (p.Arg71Pro)
|
rs121918003
|
|
NM_000478.6(ALPL):c.278C>T (p.Pro93Leu)
|
|
|
NM_000478.6(ALPL):c.284T>A (p.Val95Glu)
|
rs2148152665
|
|
NM_000478.6(ALPL):c.305A>T (p.Asn102Ile)
|
|
|
NM_000478.6(ALPL):c.344C>T (p.Thr115Ile)
|
|
|
NM_000478.6(ALPL):c.346G>T (p.Ala116Ser)
|
rs121918013
|
|
NM_000478.6(ALPL):c.394G>A (p.Ala132Thr)
|
rs757771793
|
|
NM_000478.6(ALPL):c.395C>G (p.Ala132Gly)
|
rs1558548925
|
|
NM_000478.6(ALPL):c.395C>T (p.Ala132Val)
|
rs1558548925
|
|
NM_000478.6(ALPL):c.407G>C (p.Arg136Pro)
|
rs121918011
|
|
NM_000478.6(ALPL):c.436G>C (p.Glu146Gln)
|
|
|
NM_000478.6(ALPL):c.457T>C (p.Trp153Arg)
|
rs1644512630
|
|
NM_000478.6(ALPL):c.473-1G>A
|
|
|
NM_000478.6(ALPL):c.508A>G (p.Asn170Asp)
|
rs2148161378
|
|
NM_000478.6(ALPL):c.517A>G (p.Thr173Ala)
|
|
|
NM_000478.6(ALPL):c.520C>T (p.Pro174Ser)
|
|
|
NM_000478.6(ALPL):c.529G>T (p.Ala177Ser)
|
|
|
NM_000478.6(ALPL):c.536C>T (p.Ala179Val)
|
rs748250829
|
|
NM_000478.6(ALPL):c.547G>A (p.Asp183Asn)
|
rs1644529037
|
|
NM_000478.6(ALPL):c.550C>G (p.Arg184Gly)
|
|
|
NM_000478.6(ALPL):c.571G>C (p.Glu191Gln)
|
|
|
NM_000478.6(ALPL):c.62-1G>A
|
|
|
NM_000478.6(ALPL):c.620A>C (p.Gln207Pro)
|
rs121918004
|
|
NM_000478.6(ALPL):c.643A>G (p.Ile215Val)
|
|
|
NM_000478.6(ALPL):c.649-1G>A
|
rs2148171286
|
|
NM_000478.6(ALPL):c.659G>A (p.Gly220Glu)
|
|
|
NM_000478.6(ALPL):c.661G>T (p.Gly221Cys)
|
rs769020799
|
|
NM_000478.6(ALPL):c.662G>T (p.Gly221Val)
|
|
|
NM_000478.6(ALPL):c.671A>T (p.Lys224Ile)
|
|
|
NM_000478.6(ALPL):c.715G>T (p.Asp239Tyr)
|
rs1416572796
|
|
NM_000478.6(ALPL):c.746G>C (p.Gly249Ala)
|
rs121918018
|
|
NM_000478.6(ALPL):c.792+1G>A
|
|
|
NM_000478.6(ALPL):c.792+1G>C
|
|
|
NM_000478.6(ALPL):c.823C>T (p.Leu275Phe)
|
|
|
NM_000478.6(ALPL):c.862+2T>G
|
|
|
NM_000478.6(ALPL):c.880G>A (p.Asp294Asn)
|
|
|
NM_000478.6(ALPL):c.881A>G (p.Asp294Gly)
|
|
|
NM_000478.6(ALPL):c.883A>G (p.Met295Val)
|
|
|
NM_000478.6(ALPL):c.894G>T (p.Glu298Asp)
|
|
|
NM_000478.6(ALPL):c.919C>T (p.Pro307Ser)
|
|
|
NM_000478.6(ALPL):c.967A>G (p.Asn323Asp)
|
rs2148184736
|
|
NM_000478.6(ALPL):c.969C>A (p.Asn323Lys)
|
|
|
NM_000478.6(ALPL):c.969C>G (p.Asn323Lys)
|
|
|
NM_000478.6(ALPL):c.98C>G (p.Ala33Gly)
|
|
|
NM_000478.6(ALPL):c.997+3A>C
|
rs1553414147
|
|
NM_000478.6(ALPL):c.998-2A>G
|
rs1057516622
|
|