NM_000065.5(C6):c.2381+2T>C
|
rs76202909
|
0.00242
|
NM_000065.5(C6):c.821del (p.Gln274fs)
|
rs557023458
|
0.00131
|
NM_000587.4(C7):c.405del (p.Asn136fs)
|
rs139491301
|
0.00088
|
NM_000066.4(C8B):c.271C>T (p.Gln91Ter)
|
rs146187042
|
0.00023
|
NM_001737.5(C9):c.580C>T (p.Arg194Ter)
|
rs146217095
|
0.00023
|
NM_000065.5(C6):c.1786C>T (p.Arg596Ter)
|
rs142881576
|
0.00013
|
NM_000587.4(C7):c.1135G>C (p.Gly379Arg)
|
rs121964921
|
0.00006
|
NM_001737.5(C9):c.460C>T (p.Arg154Ter)
|
rs144138616
|
0.00005
|
NM_001735.3(C5):c.4679-2A>G
|
rs191466386
|
0.00004
|
NM_000065.5(C6):c.928-1G>C
|
rs1432520854
|
0.00001
|
NM_000562.3(C8A):c.630C>A (p.Tyr210Ter)
|
rs748306602
|
0.00001
|
NM_001735.3(C5):c.1407G>A (p.Trp469Ter)
|
rs1408798589
|
0.00001
|
NM_001735.3(C5):c.2257+1G>A
|
rs750416999
|
0.00001
|
NM_001737.5(C9):c.577del (p.Tyr193fs)
|
rs778518669
|
0.00001
|
NM_000065.5(C6):c.1628_1629dup (p.Gln544fs)
|
|
|
NM_000065.5(C6):c.2049C>G (p.Tyr683Ter)
|
rs867425110
|
|
NM_000065.5(C6):c.2101C>A (p.Arg701=)
|
|
|
NM_000065.5(C6):c.2335_2336del (p.Gln779fs)
|
rs771792933
|
|
NM_000065.5(C6):c.2406_2407del (p.Val802_Phe803insTer)
|
rs749432203
|
|
NM_000065.5(C6):c.2624-1G>A
|
|
|
NM_000562.3(C8A):c.1152T>A (p.Tyr384Ter)
|
|
|
NM_000587.4(C7):c.*96TCT[1]
|
|
|
NM_000587.4(C7):c.1561C>A (p.Arg521Ser)
|
rs121964920
|
|
NM_000587.4(C7):c.614G>A (p.Trp205Ter)
|
|
|
NM_001735.3(C5):c.4336del (p.Val1446fs)
|
rs1554718962
|
|
NM_001737.5(C9):c.1038_1042delinsT (p.Ser347fs)
|
rs1753477155
|
|
NM_001737.5(C9):c.1039_1042del (p.Ser347fs)
|
rs1027370764
|
|
NM_001737.5(C9):c.1184_1185del (p.Ser395fs)
|
rs752437276
|
|
NM_001737.5(C9):c.162C>A (p.Cys54Ter)
|
rs34000044
|
|
NM_001737.5(C9):c.184-1G>A
|
|
|