NM_000252.3(MTM1):c.109C>T (p.Arg37Ter)
|
rs587783753
|
0.00001
|
NM_000252.3(MTM1):c.1261C>T (p.Arg421Ter)
|
rs587783771
|
0.00001
|
NM_000252.3(MTM1):c.1040T>G (p.Leu347Ter)
|
rs398123264
|
|
NM_000252.3(MTM1):c.1088_1089del (p.Lys363fs)
|
rs587783752
|
|
NM_000252.3(MTM1):c.1109C>G (p.Ser370Ter)
|
rs1557414505
|
|
NM_000252.3(MTM1):c.1228G>T (p.Glu410Ter)
|
rs17852824
|
|
NM_000252.3(MTM1):c.1261-10A>G
|
rs397518445
|
|
NM_000252.3(MTM1):c.1262G>A (p.Arg421Gln)
|
rs587783772
|
|
NM_000252.3(MTM1):c.1306_1310dup (p.Phe438fs)
|
rs398123267
|
|
NM_000252.3(MTM1):c.1357_1358del (p.Pro453fs)
|
rs398123268
|
|
NM_000252.3(MTM1):c.137-11T>A
|
rs1557412659
|
|
NM_000252.3(MTM1):c.1381C>T (p.Gln461Ter)
|
rs782234944
|
|
NM_000252.3(MTM1):c.1415_1416del (p.Ser472fs)
|
rs797044503
|
|
NM_000252.3(MTM1):c.141_144del
|
rs587783791
|
|
NM_000252.3(MTM1):c.1420C>T (p.Arg474Ter)
|
rs587783792
|
|
NM_000252.3(MTM1):c.142_143del (p.Glu48fs)
|
rs398123270
|
|
NM_000252.3(MTM1):c.1447G>T (p.Glu483Ter)
|
rs2148511944
|
|
NM_000252.3(MTM1):c.1558C>T (p.Arg520Ter)
|
rs587783805
|
|
NM_000252.3(MTM1):c.1611C>A (p.Tyr537Ter)
|
rs886041657
|
|
NM_000252.3(MTM1):c.1644+1G>T
|
rs398123272
|
|
NM_000252.3(MTM1):c.1644+3_1644+6del
|
rs797044504
|
|
NM_000252.3(MTM1):c.197C>T (p.Thr66Ile)
|
rs2148434107
|
|
NM_000252.3(MTM1):c.19del (p.Ser7fs)
|
rs886044770
|
|
NM_000252.3(MTM1):c.205C>T (p.Arg69Cys)
|
rs132630304
|
|
NM_000252.3(MTM1):c.231+1G>A
|
rs587783810
|
|
NM_000252.3(MTM1):c.342_342+4del
|
rs797045717
|
|
NM_000252.3(MTM1):c.444+1G>A
|
rs886044840
|
|
NM_000252.3(MTM1):c.49G>T (p.Glu17Ter)
|
rs886039522
|
|
NM_000252.3(MTM1):c.503del (p.Asn168fs)
|
rs1603185038
|
|
NM_000252.3(MTM1):c.509_528dup (p.Gly177fs)
|
|
|
NM_000252.3(MTM1):c.564TAA[1] (p.Asn189del)
|
rs878853108
|
|
NM_000252.3(MTM1):c.593dup (p.Tyr198Ter)
|
rs886041343
|
|
NM_000252.3(MTM1):c.595_599del (p.Pro199fs)
|
rs398123273
|
|
NM_000252.3(MTM1):c.614C>T (p.Pro205Leu)
|
rs587783841
|
|
NM_000252.3(MTM1):c.70C>T (p.Arg24Ter)
|
rs398123275
|
|
NM_000252.3(MTM1):c.721C>T (p.Arg241Cys)
|
rs132630305
|
|
NM_000252.3(MTM1):c.757C>T (p.Arg253Ter)
|
rs587783854
|
|
NM_000252.3(MTM1):c.814del (p.Ser272fs)
|
rs1603192748
|
|
NM_000252.3(MTM1):c.949dup (p.Met317fs)
|
rs797045722
|
|
NM_000252.3(MTM1):c.969del (p.Lys323_Val324insTer)
|
rs587783865
|
|
NM_000252.3(MTM1):c.969dup (p.Val324fs)
|
rs587783865
|
|
Single allele
|
|
|