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.31+1G>A
|
rs1057516246
|
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.1406A>G (p.Asn469Ser)
|
rs797044818
|
0.00001
|
NM_020533.3(MCOLN1):c.405+1G>A
|
rs148748724
|
0.00001
|
NM_020533.3(MCOLN1):c.681-19A>C
|
rs768736321
|
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
|
NC_000019.9:g.(7591813_7592405)_(7592847_7593043)del
|
|
|
NM_020533.3(MCOLN1):c.1034G>A (p.Trp345Ter)
|
|
|
NM_020533.3(MCOLN1):c.1047dup (p.Phe350fs)
|
rs1057516904
|
|
NM_020533.3(MCOLN1):c.1134+2T>C
|
rs1555742162
|
|
NM_020533.3(MCOLN1):c.1135-1G>A
|
rs1057516458
|
|
NM_020533.3(MCOLN1):c.1135-1G>C
|
rs1057516458
|
|
NM_020533.3(MCOLN1):c.1135-2A>G
|
rs1057517335
|
|
NM_020533.3(MCOLN1):c.1149C>G (p.Tyr383Ter)
|
rs376777270
|
|
NM_020533.3(MCOLN1):c.117del (p.Asp40fs)
|
|
|
NM_020533.3(MCOLN1):c.11dup (p.Ala5fs)
|
|
|
NM_020533.3(MCOLN1):c.1219TTC[1] (p.Phe408del)
|
rs797044817
|
|
NM_020533.3(MCOLN1):c.1230delinsTCAGG (p.Tyr411fs)
|
|
|
NM_020533.3(MCOLN1):c.1237-1G>A
|
rs2146025416
|
|
NM_020533.3(MCOLN1):c.1237-2A>C
|
rs2146025414
|
|
NM_020533.3(MCOLN1):c.1306T>C (p.Tyr436His)
|
|
|
NM_020533.3(MCOLN1):c.1308C>G (p.Tyr436Ter)
|
rs1599255682
|
|
NM_020533.3(MCOLN1):c.1336G>A (p.Val446Met)
|
rs754097561
|
|
NM_020533.3(MCOLN1):c.1336G>T (p.Val446Leu)
|
rs754097561
|
|
NM_020533.3(MCOLN1):c.1360-1G>T
|
|
|
NM_020533.3(MCOLN1):c.141C>G (p.Tyr47Ter)
|
|
|
NM_020533.3(MCOLN1):c.1447C>T (p.Gln483Ter)
|
rs1057516531
|
|
NM_020533.3(MCOLN1):c.236_237insCCATTATGTAAAATCCATTGTCGCATCCACCTTTATTATCAGTCTCTTCCCCACAACAATATTCATGTGCCTAGACCAAGAAGTTATTATCTC (p.Gln79delinsHisHisTyrValLysSerIleValAlaSerThrPheIleIleSerLeuPheProThrThrIlePheMetCysLeuAspGlnGluValIleIleSer)
|
|
|
NM_020533.3(MCOLN1):c.32-1G>C
|
rs2146021137
|
|
NM_020533.3(MCOLN1):c.32-2A>G
|
rs1555741545
|
|
NM_020533.3(MCOLN1):c.38_41dup (p.Leu15fs)
|
rs1555741548
|
|
NM_020533.3(MCOLN1):c.406-1_417del
|
rs2146022784
|
|
NM_020533.3(MCOLN1):c.426del (p.Ser143fs)
|
|
|
NM_020533.3(MCOLN1):c.499del (p.Gln167fs)
|
|
|
NM_020533.3(MCOLN1):c.514C>T (p.Arg172Ter)
|
rs797044824
|
|
NM_020533.3(MCOLN1):c.520del (p.His174fs)
|
|
|
NM_020533.3(MCOLN1):c.54dup (p.Asn19fs)
|
rs1057516602
|
|
NM_020533.3(MCOLN1):c.571+2T>C
|
rs1555741822
|
|
NM_020533.3(MCOLN1):c.572-2A>C
|
rs2146023425
|
|
NM_020533.3(MCOLN1):c.608del (p.Pro203fs)
|
|
|
NM_020533.3(MCOLN1):c.63del (p.Tyr22fs)
|
|
|
NM_020533.3(MCOLN1):c.679A>T (p.Lys227Ter)
|
|
|
NM_020533.3(MCOLN1):c.680+1G>A
|
rs1599254152
|
|
NM_020533.3(MCOLN1):c.681-1G>C
|
|
|
NM_020533.3(MCOLN1):c.681-2A>G
|
rs1057517453
|
|
NM_020533.3(MCOLN1):c.855_856insA (p.His286fs)
|
rs1057517040
|
|
NM_020533.3(MCOLN1):c.865_866insACTG (p.Val289fs)
|
|
|
NM_020533.3(MCOLN1):c.973_984+10del
|
rs779141908
|
|