NM_020533.3(MCOLN1):c.406-2A>G
|
rs104886461
|
0.00009
|
NM_020533.3(MCOLN1):c.1084G>T (p.Asp362Tyr)
|
rs121908372
|
0.00004
|
NM_020533.3(MCOLN1):c.304C>T (p.Arg102Ter)
|
rs121908373
|
0.00003
|
NM_020533.3(MCOLN1):c.920del (p.Leu307fs)
|
rs755042147
|
0.00003
|
NM_020533.3(MCOLN1):c.1207C>T (p.Arg403Cys)
|
rs121908374
|
0.00001
|
NM_020533.3(MCOLN1):c.405+1G>A
|
rs148748724
|
0.00001
|
NM_020533.3(MCOLN1):c.445dup (p.Tyr149fs)
|
rs1568398702
|
0.00001
|
NM_020533.3(MCOLN1):c.694A>C (p.Thr232Pro)
|
rs767122713
|
0.00001
|
NM_020533.3(MCOLN1):c.964C>T (p.Arg322Ter)
|
rs121908371
|
0.00001
|
NM_020533.3(MCOLN1):c.984+1G>A
|
rs767950930
|
0.00001
|
AF287270:g.511_6943del
|
|
|
NC_000019.10:g.(?_7522731)_(7528277_?)del
|
|
|
NC_000019.10:g.7521739_7528168del
|
|
|
NC_000019.9:g.(?_6361586)_(8212364_?)del
|
|
|
NC_000019.9:g.(?_7587627)_(7587677_?)del
|
|
|
NM_020533.2(MCOLN1):c.-1015_789del
|
|
|
NM_020533.3(MCOLN1):c.1005G>A (p.Trp335Ter)
|
|
|
NM_020533.3(MCOLN1):c.1036del (p.Glu346fs)
|
|
|
NM_020533.3(MCOLN1):c.1047dup (p.Phe350fs)
|
rs1057516904
|
|
NM_020533.3(MCOLN1):c.1135-1G>C
|
rs1057516458
|
|
NM_020533.3(MCOLN1):c.1208_1218del (p.Arg403fs)
|
|
|
NM_020533.3(MCOLN1):c.1210dup (p.Tyr404fs)
|
rs797044822
|
|
NM_020533.3(MCOLN1):c.1212C>A (p.Tyr404Ter)
|
|
|
NM_020533.3(MCOLN1):c.1219TTC[1] (p.Phe408del)
|
rs797044817
|
|
NM_020533.3(MCOLN1):c.1336G>A (p.Val446Met)
|
rs754097561
|
|
NM_020533.3(MCOLN1):c.1415_1419del (p.Asp472fs)
|
|
|
NM_020533.3(MCOLN1):c.1417_1418del (p.Met473fs)
|
|
|
NM_020533.3(MCOLN1):c.1453_1463dup (p.Ser488fs)
|
rs797044823
|
|
NM_020533.3(MCOLN1):c.1569del (p.Ile524fs)
|
|
|
NM_020533.3(MCOLN1):c.159C>A (p.Cys53Ter)
|
rs776845391
|
|
NM_020533.3(MCOLN1):c.1605_1606del (p.Ser535fs)
|
|
|
NM_020533.3(MCOLN1):c.1615del (p.Ala539fs)
|
rs1555742780
|
|
NM_020533.3(MCOLN1):c.1627C>T (p.Gln543Ter)
|
rs1368027694
|
|
NM_020533.3(MCOLN1):c.165del (p.Lys55fs)
|
rs2146021332
|
|
NM_020533.3(MCOLN1):c.166_182del (p.Phe56fs)
|
rs2022549661
|
|
NM_020533.3(MCOLN1):c.169C>T (p.Arg57Ter)
|
rs765577483
|
|
NM_020533.3(MCOLN1):c.1704A>T (p.Gly568=)
|
rs751298168
|
|
NM_020533.3(MCOLN1):c.192C>A (p.Cys64Ter)
|
rs2022550603
|
|
NM_020533.3(MCOLN1):c.230del (p.Thr77fs)
|
rs2146021402
|
|
NM_020533.3(MCOLN1):c.236_237ins[NC_012920.1:m.12435_12527] (p.Gln79delinsHisHisTyrValLysSerIleValAlaSerThrPheIleIleSerLeuPheProThrThrIlePheMetCysLeuAspGlnGluValIleIleSer)
|
|
|
NM_020533.3(MCOLN1):c.278del (p.Phe93fs)
|
rs2146022423
|
|
NM_020533.3(MCOLN1):c.327C>G (p.Tyr109Ter)
|
|
|
NM_020533.3(MCOLN1):c.38_41dup (p.Leu15fs)
|
rs1555741548
|
|
NM_020533.3(MCOLN1):c.405+1G>C
|
rs148748724
|
|
NM_020533.3(MCOLN1):c.405+2T>C
|
rs2146022577
|
|
NM_020533.3(MCOLN1):c.419del (p.Pro140fs)
|
rs2146022798
|
|
NM_020533.3(MCOLN1):c.499C>T (p.Gln167Ter)
|
rs1056159821
|
|
NM_020533.3(MCOLN1):c.504del (p.Tyr169fs)
|
rs2146022877
|
|
NM_020533.3(MCOLN1):c.507C>G (p.Tyr169Ter)
|
rs896210352
|
|
NM_020533.3(MCOLN1):c.507del (p.Tyr170fs)
|
|
|
NM_020533.3(MCOLN1):c.514C>T (p.Arg172Ter)
|
rs797044824
|
|
NM_020533.3(MCOLN1):c.54dup (p.Asn19fs)
|
rs1057516602
|
|
NM_020533.3(MCOLN1):c.571+2T>C
|
rs1555741822
|
|
NM_020533.3(MCOLN1):c.594del (p.Glu199fs)
|
rs1349755445
|
|
NM_020533.3(MCOLN1):c.608del (p.Pro203fs)
|
|
|
NM_020533.3(MCOLN1):c.615dup (p.Ser206fs)
|
rs886041533
|
|
NM_020533.3(MCOLN1):c.654C>A (p.Tyr218Ter)
|
rs757685298
|
|
NM_020533.3(MCOLN1):c.66T>G (p.Tyr22Ter)
|
rs2146021205
|
|
NM_020533.3(MCOLN1):c.680+1G>A
|
rs1599254152
|
|
NM_020533.3(MCOLN1):c.724del (p.Leu242fs)
|
rs2146023956
|
|
NM_020533.3(MCOLN1):c.762T>G (p.Tyr254Ter)
|
|
|
NM_020533.3(MCOLN1):c.777+1G>C
|
rs1057518781
|
|
NM_020533.3(MCOLN1):c.832C>T (p.Gln278Ter)
|
|
|
NM_020533.3(MCOLN1):c.844C>T (p.Gln282Ter)
|
rs2146024231
|
|
NM_020533.3(MCOLN1):c.871C>T (p.Gln291Ter)
|
|
|
NM_020533.3(MCOLN1):c.874_877delinsTACT (p.His292_Gly293delinsTyrTer)
|
rs2022601213
|
|
NM_020533.3(MCOLN1):c.880_881del (p.Asp294fs)
|
rs2022607233
|
|
NM_020533.3(MCOLN1):c.940del (p.Leu314fs)
|
|
|
NM_020533.3(MCOLN1):c.948dup (p.Ala317fs)
|
rs2146024554
|
|
NM_020533.3(MCOLN1):c.95dup (p.Pro33fs)
|
rs2022547761
|
|
NM_020533.3:c.236_237ins[NC_012920.1:g.12435_12528]
|
|
|