NM_000344.4(SMN1):c.*3+80T>G
|
rs143838139
|
0.08111
|
NM_000344.4(SMN1):c.835-8C>A
|
rs200146682
|
0.00036
|
NM_000344.4(SMN1):c.864G>T (p.Arg288Ser)
|
rs368899583
|
0.00014
|
NM_000344.4(SMN1):c.*1G>A
|
rs763144752
|
0.00010
|
NM_000344.4(SMN1):c.865T>A (p.Cys289Ser)
|
rs187925143
|
0.00007
|
NM_000344.4(SMN1):c.835-33T>G
|
rs1335244738
|
0.00001
|
NM_000344.4(SMN1):c.835-3C>T
|
rs772466166
|
0.00001
|
NM_000344.4(SMN1):c.*10C>A
|
rs1749796858
|
|
NM_000344.4(SMN1):c.*2G>C
|
rs1286965446
|
|
NM_000344.4(SMN1):c.*3+1G>A
|
rs1290417835
|
|
NM_000344.4(SMN1):c.*3+1G>C
|
rs1290417835
|
|
NM_000344.4(SMN1):c.*3+4_*3+7del
|
|
|
NM_000344.4(SMN1):c.*4G>A
|
rs1749796463
|
|
NM_000344.4(SMN1):c.*6A>G
|
rs1749796591
|
|
NM_000344.4(SMN1):c.835-13A>G
|
rs1561503068
|
|
NM_000344.4(SMN1):c.835-13A>T
|
rs1561503068
|
|
NM_000344.4(SMN1):c.835-13del
|
rs1561503075
|
|
NM_000344.4(SMN1):c.835-14T>A
|
rs370146091
|
|
NM_000344.4(SMN1):c.835-15T>G
|
rs1554082375
|
|
NM_000344.4(SMN1):c.835-17C>G
|
rs1749768663
|
|
NM_000344.4(SMN1):c.835-17C>T
|
rs1749768663
|
|
NM_000344.4(SMN1):c.835-18C>T
|
rs1554082373
|
|
NM_000344.4(SMN1):c.835-19T>A
|
rs1749768312
|
|
NM_000344.4(SMN1):c.835-1G>A
|
rs1217001154
|
|
NM_000344.4(SMN1):c.835-21C>A
|
rs1292776799
|
|
NM_000344.4(SMN1):c.835-24T>A
|
rs748758067
|
|
NM_000344.4(SMN1):c.835-24T>G
|
rs748758067
|
|
NM_000344.4(SMN1):c.835-24del
|
rs555928635
|
|
NM_000344.4(SMN1):c.835-28T>C
|
rs1554082369
|
|
NM_000344.4(SMN1):c.835-29T>G
|
rs1554082368
|
|
NM_000344.4(SMN1):c.835-2A>G
|
rs141760116
|
|
NM_000344.4(SMN1):c.835-2A>T
|
rs141760116
|
|
NM_000344.4(SMN1):c.835-31T>G
|
rs1749767005
|
|
NM_000344.4(SMN1):c.836G>A (p.Gly279Asp)
|
rs76163360
|
|
NM_000344.4(SMN1):c.837T>C (p.Gly279=)
|
rs1561503108
|
|
NM_000344.4(SMN1):c.840C>G (p.Phe280Leu)
|
rs1164325688
|
|
NM_000344.4(SMN1):c.841A>C (p.Arg281=)
|
rs1482083567
|
|
NM_000344.4(SMN1):c.842G>C (p.Arg281Thr)
|
rs1561503124
|
|
NM_000344.4(SMN1):c.847A>C (p.Asn283His)
|
rs1561503132
|
|
NM_000344.4(SMN1):c.855dup (p.Glu286fs)
|
rs1554082383
|
|
NM_000344.4(SMN1):c.861_864del (p.Arg288fs)
|
|
|
NM_000344.4(SMN1):c.883T>G (p.Ter295Glu)
|
rs1749775863
|
|