NM_018006.5(TRMU):c.28G>T (p.Ala10Ser)
|
rs11090865
|
0.13476
|
NM_018006.5(TRMU):c.387A>G (p.Ala129=)
|
rs144586525
|
0.00478
|
NM_018006.5(TRMU):c.-147C>A
|
rs190351151
|
0.00097
|
NM_018006.5(TRMU):c.902A>G (p.Tyr301Cys)
|
rs186961144
|
0.00020
|
NM_018006.5(TRMU):c.835G>A (p.Val279Met)
|
rs387907022
|
0.00011
|
NM_018006.5(TRMU):c.40G>A (p.Gly14Ser)
|
rs751248771
|
0.00004
|
NM_018006.5(TRMU):c.1102-3C>G
|
rs753039116
|
0.00002
|
NM_018006.5(TRMU):c.249-2A>G
|
rs768299416
|
0.00002
|
NM_018006.5(TRMU):c.680G>C (p.Arg227Thr)
|
rs764622793
|
0.00002
|
NM_018006.5(TRMU):c.96_97del (p.Phe35fs)
|
rs762738569
|
0.00002
|
NM_018006.5(TRMU):c.994C>T (p.Arg332Ter)
|
rs759790041
|
0.00002
|
NM_018006.5(TRMU):c.117G>A (p.Trp39Ter)
|
rs1174791046
|
0.00001
|
NM_018006.5(TRMU):c.718C>T (p.Arg240Ter)
|
rs367683258
|
0.00001
|
NM_018006.5(TRMU):c.803del (p.Ala268fs)
|
rs745338284
|
0.00001
|
NM_018006.5(TRMU):c.83-2A>G
|
rs747853875
|
0.00001
|
NM_018006.5(TRMU):c.1019-1G>A
|
rs773484808
|
|
NM_018006.5(TRMU):c.1019-2_1023del
|
|
|
NM_018006.5(TRMU):c.1028_1029del (p.Val343fs)
|
|
|
NM_018006.5(TRMU):c.1041_1044dup (p.Asp349fs)
|
|
|
NM_018006.5(TRMU):c.1073_1081dup (p.Gln358_Val360dup)
|
rs753112330
|
|
NM_018006.5(TRMU):c.1085_1101+7del
|
|
|
NM_018006.5(TRMU):c.1101+1G>A
|
|
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NM_018006.5(TRMU):c.1102-22_1130del
|
|
|
NM_018006.5(TRMU):c.1103_1109del
|
|
|
NM_018006.5(TRMU):c.1142G>A (p.Gly381Glu)
|
rs774047684
|
|
NM_018006.5(TRMU):c.177_178del (p.Arg59fs)
|
|
|
NM_018006.5(TRMU):c.229T>C (p.Tyr77His)
|
rs118203990
|
|
NM_018006.5(TRMU):c.231T>A (p.Tyr77Ter)
|
|
|
NM_018006.5(TRMU):c.248+1G>T
|
|
|
NM_018006.5(TRMU):c.249-2A>C
|
|
|
NM_018006.5(TRMU):c.260_263del (p.Asn87fs)
|
|
|
NM_018006.5(TRMU):c.27C>T (p.Cys9=)
|
rs1297282365
|
|
NM_018006.5(TRMU):c.31_32del (p.Leu11fs)
|
|
|
NM_018006.5(TRMU):c.333del (p.His112fs)
|
|
|
NM_018006.5(TRMU):c.333dup (p.His112fs)
|
rs756600903
|
|
NM_018006.5(TRMU):c.355+1G>C
|
rs1407825579
|
|
NM_018006.5(TRMU):c.355+1G>T
|
|
|
NM_018006.5(TRMU):c.356-2_356-1del
|
rs2147053913
|
|
NM_018006.5(TRMU):c.356-2del
|
|
|
NM_018006.5(TRMU):c.380dup (p.His127fs)
|
|
|
NM_018006.5(TRMU):c.397del (p.Leu133fs)
|
|
|
NM_018006.5(TRMU):c.416_417del (p.Val138_Phe139insTer)
|
|
|
NM_018006.5(TRMU):c.428_459dup (p.Arg154fs)
|
rs2147054656
|
|
NM_018006.5(TRMU):c.458del (p.Asn153fs)
|
|
|
NM_018006.5(TRMU):c.478+1G>A
|
rs1569072157
|
|
NM_018006.5(TRMU):c.479-1G>A
|
|
|
NM_018006.5(TRMU):c.4C>T (p.Gln2Ter)
|
rs1464059546
|
|
NM_018006.5(TRMU):c.522CTT[1] (p.Phe176del)
|
rs762710723
|
|
NM_018006.5(TRMU):c.544C>T (p.Gln182Ter)
|
|
|
NM_018006.5(TRMU):c.575dup (p.Leu195fs)
|
|
|
NM_018006.5(TRMU):c.581del (p.Gly194fs)
|
rs763926467
|
|
NM_018006.5(TRMU):c.581dup (p.Leu195fs)
|
|
|
NM_018006.5(TRMU):c.591del (p.Glu198fs)
|
|
|
NM_018006.5(TRMU):c.5_27dup (p.Ala10fs)
|
|
|
NM_018006.5(TRMU):c.645_649del (p.Lys216fs)
|
|
|
NM_018006.5(TRMU):c.652-2A>G
|
|
|
NM_018006.5(TRMU):c.660dup (p.Met221fs)
|
|
|
NM_018006.5(TRMU):c.679_686del (p.Lys226_Arg227insTer)
|
|
|
NM_018006.5(TRMU):c.692_705dup (p.Tyr236fs)
|
|
|
NM_018006.5(TRMU):c.703C>T (p.Gln235Ter)
|
rs1800386420
|
|
NM_018006.5(TRMU):c.706-2A>G
|
|
|
NM_018006.5(TRMU):c.737_738insT (p.Ile247fs)
|
|
|
NM_018006.5(TRMU):c.772+2T>G
|
rs2147096093
|
|
NM_018006.5(TRMU):c.777G>A (p.Trp259Ter)
|
|
|
NM_018006.5(TRMU):c.824_825del (p.Glu275fs)
|
|
|
NM_018006.5(TRMU):c.824_825dup (p.Pro276fs)
|
rs1191230933
|
|
NM_018006.5(TRMU):c.830G>A (p.Trp277Ter)
|
|
|
NM_018006.5(TRMU):c.867_868del (p.Phe290fs)
|
|
|
NM_018006.5(TRMU):c.872_873del (p.Val291fs)
|
|
|
NM_018006.5(TRMU):c.873+2T>G
|
|
|
NM_018006.5(TRMU):c.874-1G>C
|
|
|
NM_018006.5(TRMU):c.874-2A>G
|
|
|
NM_018006.5(TRMU):c.87C>G (p.Tyr29Ter)
|
rs769668643
|
|
NM_018006.5(TRMU):c.880del (p.Arg294fs)
|
rs1490906786
|
|
NM_018006.5(TRMU):c.882del (p.Thr295fs)
|
|
|
NM_018006.5(TRMU):c.903C>A (p.Tyr301Ter)
|
|
|
NM_018006.5(TRMU):c.925del (p.Arg309fs)
|
|
|
NM_018006.5(TRMU):c.954dup (p.Ala319fs)
|
rs863224242
|
|
NM_018006.5(TRMU):c.994del (p.Arg332fs)
|
|
|