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.681-19A>C
|
rs768736321
|
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
|
NM_020533.2(MCOLN1):c.-1015_789del
|
|
|
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.1447C>T (p.Gln483Ter)
|
rs1057516531
|
|
NM_020533.3(MCOLN1):c.1476del (p.Phe493fs)
|
rs1555742362
|
|
NM_020533.3(MCOLN1):c.1621del (p.Ile541fs)
|
rs1555742787
|
|
NM_020533.3(MCOLN1):c.1717GAG[1] (p.Glu574del)
|
rs1555742834
|
|
NM_020533.3(MCOLN1):c.1735del (p.Leu578_Val579insTer)
|
rs1555742837
|
|
NM_020533.3(MCOLN1):c.32-2A>G
|
rs1555741545
|
|
NM_020533.3(MCOLN1):c.38_41dup (p.Leu15fs)
|
rs1555741548
|
|
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.681-2A>G
|
rs1057517453
|
|
NM_020533.3(MCOLN1):c.777+12dup
|
rs563339019
|
|
NM_020533.3(MCOLN1):c.840_845del (p.His280_Ile281del)
|
rs1555742012
|
|
NM_020533.3(MCOLN1):c.855_856insA (p.His286fs)
|
rs1057517040
|
|
NM_020533.3(MCOLN1):c.973_984+10del
|
rs779141908
|
|