NM_003361.4(UMOD):c.1406C>T (p.Thr469Met)
|
rs143583842
|
0.00051
|
NM_003361.4(UMOD):c.1763G>A (p.Arg588Gln)
|
rs387907549
|
0.00014
|
NM_003361.4(UMOD):c.1648G>A (p.Val550Ile)
|
rs188709583
|
0.00013
|
NM_003361.4(UMOD):c.599G>A (p.Arg200His)
|
rs940287917
|
0.00013
|
NM_003361.4(UMOD):c.430G>A (p.Asp144Asn)
|
rs769398465
|
0.00009
|
NM_003361.4(UMOD):c.*88G>A
|
rs547514548
|
0.00004
|
NM_003361.4(UMOD):c.685A>T (p.Met229Leu)
|
rs756226236
|
0.00004
|
NM_003361.4(UMOD):c.875C>A (p.Ser292Tyr)
|
rs147199402
|
0.00004
|
NM_003361.4(UMOD):c.*59G>A
|
rs886051783
|
0.00003
|
NM_003361.4(UMOD):c.1360G>A (p.Gly454Ser)
|
rs774173431
|
0.00002
|
NM_003361.4(UMOD):c.1459G>A (p.Val487Met)
|
rs375158769
|
0.00002
|
NM_003361.4(UMOD):c.1640G>A (p.Arg547Gln)
|
rs780358900
|
0.00002
|
NM_003361.4(UMOD):c.1680C>G (p.Asp560Glu)
|
rs200473249
|
0.00002
|
NM_003361.4(UMOD):c.1901C>T (p.Thr634Ile)
|
rs751927256
|
0.00002
|
NM_003361.4(UMOD):c.758G>A (p.Gly253Asp)
|
rs760253448
|
0.00002
|
NM_003361.4(UMOD):c.*262C>G
|
rs1422710573
|
0.00001
|
NM_003361.4(UMOD):c.*39C>T
|
rs770789937
|
0.00001
|
NM_003361.4(UMOD):c.1131G>C (p.Trp377Cys)
|
rs201738891
|
0.00001
|
NM_003361.4(UMOD):c.1390C>T (p.Gln464Ter)
|
rs373412017
|
0.00001
|
NM_003361.4(UMOD):c.472G>A (p.Gly158Arg)
|
rs1239315488
|
0.00001
|
NM_003361.4(UMOD):c.808G>A (p.Gly270Ser)
|
rs781101544
|
0.00001
|
NM_003361.4(UMOD):c.*226_*229del
|
rs886051782
|
|
NM_003361.4(UMOD):c.*231A>G
|
rs886051781
|
|
NM_003361.4(UMOD):c.-57C>T
|
rs767217667
|
|
NM_003361.4(UMOD):c.1093C>T (p.Arg365Trp)
|
|
|
NM_003361.4(UMOD):c.1100C>G (p.Ser367Trp)
|
rs138178893
|
|
NM_003361.4(UMOD):c.115G>C (p.Ala39Pro)
|
rs1245943973
|
|
NM_003361.4(UMOD):c.116C>A (p.Ala39Asp)
|
rs762973149
|
|
NM_003361.4(UMOD):c.1182+5G>T
|
rs755374625
|
|
NM_003361.4(UMOD):c.1189G>A (p.Glu397Lys)
|
|
|
NM_003361.4(UMOD):c.1195del (p.His399fs)
|
rs780493255
|
|
NM_003361.4(UMOD):c.1372G>A (p.Val458Met)
|
|
|
NM_003361.4(UMOD):c.1382C>A (p.Ala461Glu)
|
rs780475918
|
|
NM_003361.4(UMOD):c.139G>A (p.Val47Ile)
|
rs917737950
|
|
NM_003361.4(UMOD):c.1445A>T (p.Glu482Val)
|
|
|
NM_003361.4(UMOD):c.1520A>G (p.Tyr507Cys)
|
rs1965189208
|
|
NM_003361.4(UMOD):c.172G>A (p.Gly58Ser)
|
|
|
NM_003361.4(UMOD):c.176A>G (p.Asp59Gly)
|
|
|
NM_003361.4(UMOD):c.1859dup (p.Leu620fs)
|
rs886051784
|
|
NM_003361.4(UMOD):c.202G>A (p.Glu68Lys)
|
rs1965761636
|
|
NM_003361.4(UMOD):c.208G>A (p.Ala70Thr)
|
|
|
NM_003361.4(UMOD):c.359G>A (p.Cys120Tyr)
|
|
|
NM_003361.4(UMOD):c.382_383insT (p.Asn128fs)
|
|
|
NM_003361.4(UMOD):c.480C>T (p.Asp160=)
|
rs1965738932
|
|
NM_003361.4(UMOD):c.529C>T (p.His177Tyr)
|
|
|
NM_003361.4(UMOD):c.539T>C (p.Leu180Pro)
|
rs794727496
|
|
NM_003361.4(UMOD):c.544G>A (p.Glu182Lys)
|
|
|
NM_003361.4(UMOD):c.548A>G (p.Tyr183Cys)
|
rs1064796542
|
|
NM_003361.4(UMOD):c.698G>T (p.Gly233Val)
|
rs1965720354
|
|
NM_003361.4(UMOD):c.725T>A (p.Ile242Asn)
|
|
|
NM_003361.4(UMOD):c.768C>G (p.Cys256Trp)
|
rs774838407
|
|
NM_003361.4(UMOD):c.77C>T (p.Thr26Ile)
|
rs769806862
|
|
NM_003361.4(UMOD):c.799T>C (p.Cys267Arg)
|
|
|
NM_003361.4(UMOD):c.854C>A (p.Ala285Glu)
|
rs766919534
|
|
NM_003361.4(UMOD):c.859T>C (p.Cys287Arg)
|
|
|
NM_003361.4(UMOD):c.865+7C>G
|
rs759063012
|
|
NM_003361.4(UMOD):c.895G>A (p.Glu299Lys)
|
rs1965696937
|
|
NM_003361.4(UMOD):c.998T>C (p.Leu333Pro)
|
rs1965583936
|
|