NM_001005373.4(LRSAM1):c.1913-1G>A
|
rs756880678
|
0.00003
|
NM_001005373.4(LRSAM1):c.1144C>T (p.Arg382Ter)
|
rs752177472
|
0.00001
|
NM_001005373.4(LRSAM1):c.1279C>T (p.Arg427Ter)
|
rs138226428
|
0.00001
|
NM_001005373.4(LRSAM1):c.1694del (p.Leu565fs)
|
rs749012928
|
0.00001
|
NM_001005373.4(LRSAM1):c.1815del (p.Asp607fs)
|
rs747130246
|
0.00001
|
NM_001005373.4(LRSAM1):c.2019dup (p.Glu674fs)
|
rs1315010600
|
0.00001
|
NM_001005373.4(LRSAM1):c.988C>T (p.Gln330Ter)
|
rs1156243243
|
0.00001
|
NC_000009.11:g.(?_130229999)_(130230129_?)del
|
|
|
NC_000009.11:g.(?_130245209)_(130245319_?)del
|
|
|
NC_000009.11:g.(?_130265033)_(130265178_?)del
|
|
|
NC_000009.12:g.(?_127501000)_(127501153_?)del
|
|
|
NM_001005373.4(LRSAM1):c.1037_1040del (p.Asn346fs)
|
rs1588121150
|
|
NM_001005373.4(LRSAM1):c.109del (p.Ser37fs)
|
rs1834464693
|
|
NM_001005373.4(LRSAM1):c.1135_1136del (p.Ser379fs)
|
rs2132073231
|
|
NM_001005373.4(LRSAM1):c.1333del (p.Gln445fs)
|
rs866892723
|
|
NM_001005373.4(LRSAM1):c.1493_1494del (p.Glu498fs)
|
rs1588132672
|
|
NM_001005373.4(LRSAM1):c.1546C>T (p.Gln516Ter)
|
|
|
NM_001005373.4(LRSAM1):c.1606_1609dup (p.Glu537fs)
|
|
|
NM_001005373.4(LRSAM1):c.1717C>T (p.Gln573Ter)
|
|
|
NM_001005373.4(LRSAM1):c.1911del (p.Glu638fs)
|
|
|
NM_001005373.4(LRSAM1):c.1914G>A (p.Glu638=)
|
rs387907032
|
|
NM_001005373.4(LRSAM1):c.1956_1957dup (p.Gln653fs)
|
rs775965001
|
|
NM_001005373.4(LRSAM1):c.1957dup (p.Gln653fs)
|
rs775965001
|
|
NM_001005373.4(LRSAM1):c.2047-1G>A
|
rs1564287793
|
|
NM_001005373.4(LRSAM1):c.2075_2087del (p.His692fs)
|
|
|
NM_001005373.4(LRSAM1):c.2080T>C (p.Cys694Arg)
|
rs759312530
|
|
NM_001005373.4(LRSAM1):c.2081G>A (p.Cys694Tyr)
|
rs886041051
|
|
NM_001005373.4(LRSAM1):c.2089C>T (p.Gln697Ter)
|
rs961918637
|
|
NM_001005373.4(LRSAM1):c.2093_2104del (p.Gln698_Gln701del)
|
rs1554763017
|
|
NM_001005373.4(LRSAM1):c.2104_2133dup (p.Pro702_Gln711dup)
|
rs1564287871
|
|
NM_001005373.4(LRSAM1):c.2108_2114del (p.Leu703fs)
|
|
|
NM_001005373.4(LRSAM1):c.2120C>T (p.Pro707Leu)
|
rs797044913
|
|
NM_001005373.4(LRSAM1):c.2121_2122dup (p.Leu708fs)
|
rs786200930
|
|
NM_001005373.4(LRSAM1):c.352C>T (p.Gln118Ter)
|
rs2132010730
|
|
NM_001005373.4(LRSAM1):c.382C>T (p.Gln128Ter)
|
rs1168470052
|
|
NM_001005373.4(LRSAM1):c.388C>T (p.Gln130Ter)
|
rs1554754342
|
|
NM_001005373.4(LRSAM1):c.428_435dup (p.Val146fs)
|
|
|
NM_001005373.4(LRSAM1):c.448C>T (p.Arg150Ter)
|
|
|
NM_001005373.4(LRSAM1):c.602dup (p.Leu201fs)
|
rs1215220865
|
|
NM_001005373.4(LRSAM1):c.636C>G (p.Tyr212Ter)
|
rs1345228128
|
|
NM_001005373.4(LRSAM1):c.940C>T (p.Gln314Ter)
|
|
|