NM_030943.4(AMN):c.1349A>G (p.Glu450Gly)
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rs370794142
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0.00053
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NM_030943.4(AMN):c.928G>A (p.Val310Met)
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rs201788173
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0.00043
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NM_030943.4(AMN):c.651+3G>T
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rs751723677
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0.00034
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NM_030943.4(AMN):c.1123G>C (p.Val375Leu)
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rs759831593
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0.00009
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NM_030943.4(AMN):c.197T>C (p.Val66Ala)
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rs371713937
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0.00007
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NM_030943.4(AMN):c.805C>T (p.Arg269Trp)
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rs200712130
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0.00006
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NM_030943.4(AMN):c.400C>G (p.Arg134Gly)
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rs758317090
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0.00005
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NM_030943.4(AMN):c.1141C>T (p.Pro381Ser)
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rs1345352857
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0.00004
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NM_030943.4(AMN):c.500C>T (p.Ser167Leu)
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rs774698023
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0.00004
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NM_030943.4(AMN):c.448T>C (p.Phe150Leu)
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rs1039668619
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0.00003
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NM_030943.4(AMN):c.811C>T (p.Arg271Trp)
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rs765147150
|
0.00003
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NM_030943.4(AMN):c.110G>A (p.Ser37Asn)
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rs200648108
|
0.00002
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NM_030943.4(AMN):c.1324G>A (p.Val442Ile)
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rs760175392
|
0.00002
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NM_030943.4(AMN):c.532G>A (p.Asp178Asn)
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rs575761625
|
0.00002
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NM_030943.4(AMN):c.108G>C (p.Trp36Cys)
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rs199835580
|
0.00001
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NM_030943.4(AMN):c.296-3C>T
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rs764763091
|
0.00001
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NM_030943.4(AMN):c.356G>T (p.Arg119Leu)
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rs533436439
|
0.00001
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NM_030943.4(AMN):c.790G>A (p.Ala264Thr)
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rs1450455717
|
0.00001
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NM_030943.4(AMN):c.1145T>C (p.Leu382Pro)
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NM_030943.4(AMN):c.1148T>C (p.Leu383Pro)
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NM_030943.4(AMN):c.1169+17_1169+36del
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NM_030943.4(AMN):c.1192G>T (p.Ala398Ser)
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NM_030943.4(AMN):c.1199C>T (p.Ala400Val)
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NM_030943.4(AMN):c.1219C>T (p.Arg407Cys)
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NM_030943.4(AMN):c.1257G>A (p.Leu419=)
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rs2139313588
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NM_030943.4(AMN):c.1270C>G (p.Arg424Gly)
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NM_030943.4(AMN):c.1288A>C (p.Lys430Gln)
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NM_030943.4(AMN):c.1308_1323dup (p.Val442fs)
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rs2139314176
|
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NM_030943.4(AMN):c.130G>A (p.Ala44Thr)
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NM_030943.4(AMN):c.1310G>A (p.Ser437Asn)
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NM_030943.4(AMN):c.1330C>T (p.Pro444Ser)
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rs1354241478
|
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NM_030943.4(AMN):c.1343_1348dup (p.Gly448_Ala449dup)
|
rs36040113
|
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NM_030943.4(AMN):c.140C>T (p.Ala47Val)
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NM_030943.4(AMN):c.149T>C (p.Phe50Ser)
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rs772475317
|
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NM_030943.4(AMN):c.163-3C>T
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NM_030943.4(AMN):c.206T>C (p.Met69Thr)
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NM_030943.4(AMN):c.294G>A (p.Ala98=)
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NM_030943.4(AMN):c.296-9C>G
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NM_030943.4(AMN):c.316G>A (p.Asp106Asn)
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NM_030943.4(AMN):c.365A>G (p.Asp122Gly)
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NM_030943.4(AMN):c.395C>T (p.Ala132Val)
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NM_030943.4(AMN):c.43G>T (p.Ala15Ser)
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NM_030943.4(AMN):c.44-7_44-5del
|
rs774101952
|
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NM_030943.4(AMN):c.440G>C (p.Ser147Thr)
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NM_030943.4(AMN):c.454G>A (p.Val152Met)
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NM_030943.4(AMN):c.481G>T (p.Val161Leu)
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NM_030943.4(AMN):c.491_492delinsAG (p.Arg164Gln)
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NM_030943.4(AMN):c.56C>T (p.Ala19Val)
|
rs979571435
|
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NM_030943.4(AMN):c.62C>T (p.Ser21Phe)
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NM_030943.4(AMN):c.652-20A>G
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NM_030943.4(AMN):c.682C>G (p.Gln228Glu)
|
rs1163522093
|
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NM_030943.4(AMN):c.712G>A (p.Ala238Thr)
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NM_030943.4(AMN):c.754C>T (p.Leu252Phe)
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NM_030943.4(AMN):c.806G>T (p.Arg269Leu)
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NM_030943.4(AMN):c.855C>G (p.His285Gln)
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NM_030943.4(AMN):c.864G>T (p.Gln288His)
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NM_030943.4(AMN):c.873_874dup (p.Ser292fs)
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rs2139311797
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NM_030943.4(AMN):c.892T>C (p.Ser298Pro)
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NM_030943.4(AMN):c.914C>T (p.Thr305Met)
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