NM_000232.5(SGCB):c.341C>T (p.Ser114Phe)
|
rs150518260
|
0.00019
|
NM_000232.5(SGCB):c.271C>T (p.Arg91Cys)
|
rs555514820
|
0.00002
|
NM_000232.5(SGCB):c.551A>G (p.Tyr184Cys)
|
rs1365923535
|
0.00002
|
NM_000232.5(SGCB):c.265G>A (p.Val89Met)
|
rs762652676
|
0.00001
|
NM_000232.5(SGCB):c.452C>G (p.Thr151Arg)
|
rs28936383
|
0.00001
|
NM_000232.5(SGCB):c.499G>A (p.Gly167Ser)
|
rs779516489
|
0.00001
|
NM_000232.5(SGCB):c.544A>C (p.Thr182Pro)
|
rs751427686
|
0.00001
|
NM_000232.5(SGCB):c.601C>T (p.Gln201Ter)
|
rs773554421
|
0.00001
|
NM_000232.5(SGCB):c.621+1G>T
|
rs1264362642
|
0.00001
|
NM_000232.5(SGCB):c.622-2A>G
|
rs780596734
|
0.00001
|
NM_000232.5(SGCB):c.85A>T (p.Arg29Ter)
|
rs747809412
|
0.00001
|
NC_000004.11:g.(?_52890123)_(52904425_?)del
|
|
|
NC_000004.11:g.(?_52894124)_(52896039_?)del
|
|
|
NC_000004.11:g.(?_52894876)_(52895107_?)del
|
|
|
NC_000004.11:g.(?_52899577)_(52899826_?)del
|
|
|
NC_000004.12:g.(?_52033421)_(52033650_?)del
|
|
|
NM_000232.5(SGCB):c.102del (p.Glu35fs)
|
rs2109376007
|
|
NM_000232.5(SGCB):c.132C>G (p.Tyr44Ter)
|
rs1737305761
|
|
NM_000232.5(SGCB):c.165_166del (p.Gly56fs)
|
|
|
NM_000232.5(SGCB):c.243+2T>C
|
rs1553940661
|
|
NM_000232.5(SGCB):c.243+3_243+6del
|
rs1553940660
|
|
NM_000232.5(SGCB):c.253_254del (p.Val85fs)
|
rs1553940274
|
|
NM_000232.5(SGCB):c.255dup (p.Ile86fs)
|
rs2109372084
|
|
NM_000232.5(SGCB):c.261G>A (p.Trp87Ter)
|
rs2109372060
|
|
NM_000232.5(SGCB):c.272G>C (p.Arg91Pro)
|
rs104893869
|
|
NM_000232.5(SGCB):c.272G>T (p.Arg91Leu)
|
rs104893869
|
|
NM_000232.5(SGCB):c.299T>A (p.Met100Lys)
|
rs104893871
|
|
NM_000232.5(SGCB):c.323T>G (p.Leu108Arg)
|
rs104893870
|
|
NM_000232.5(SGCB):c.325C>T (p.Arg109Ter)
|
rs750773622
|
|
NM_000232.5(SGCB):c.34-150_243+150del
|
|
|
NM_000232.5(SGCB):c.34-1G>A
|
rs1484409119
|
|
NM_000232.5(SGCB):c.366_367del (p.Leu122_Tyr123insTer)
|
rs1578126090
|
|
NM_000232.5(SGCB):c.36_37delinsG (p.Ser13fs)
|
|
|
NM_000232.5(SGCB):c.373dup (p.Ser125fs)
|
rs2109371877
|
|
NM_000232.5(SGCB):c.377_384dup (p.Gly129delinsGlnTer)
|
rs751427729
|
|
NM_000232.5(SGCB):c.37del (p.Ser13fs)
|
|
|
NM_000232.5(SGCB):c.391C>T (p.Arg131Ter)
|
rs1013015106
|
|
NM_000232.5(SGCB):c.433del (p.Val145fs)
|
|
|
NM_000232.5(SGCB):c.460_482del (p.Ser154fs)
|
|
|
NM_000232.5(SGCB):c.466_467del (p.Glu156fs)
|
rs1578125670
|
|
NM_000232.5(SGCB):c.494del (p.Asp165fs)
|
|
|
NM_000232.5(SGCB):c.518dup (p.Arg174fs)
|
|
|
NM_000232.5(SGCB):c.539dup (p.Ser181fs)
|
rs1737176330
|
|
NM_000232.5(SGCB):c.543_547del (p.Ser181fs)
|
|
|
NM_000232.5(SGCB):c.544A>G (p.Thr182Ala)
|
|
|
NM_000232.5(SGCB):c.551_552del (p.Asp183_Tyr184insTer)
|
rs1057517051
|
|
NM_000232.5(SGCB):c.552T>G (p.Tyr184Ter)
|
rs104893868
|
|
NM_000232.5(SGCB):c.558_568del (p.His187fs)
|
|
|
NM_000232.5(SGCB):c.567dup (p.His190fs)
|
rs1263020044
|
|
NM_000232.5(SGCB):c.572del (p.Leu191fs)
|
rs886042546
|
|
NM_000232.5(SGCB):c.579dup (p.Gly194fs)
|
rs2109370922
|
|
NM_000232.5(SGCB):c.583dup (p.Val195fs)
|
|
|
NM_000232.5(SGCB):c.595_598del (p.Asn199fs)
|
rs762114570
|
|
NM_000232.5(SGCB):c.621+1G>A
|
rs1264362642
|
|
NM_000232.5(SGCB):c.622-1G>C
|
rs2109370093
|
|
NM_000232.5(SGCB):c.622-1G>T
|
|
|
NM_000232.5(SGCB):c.650del (p.Asn217fs)
|
rs1553940079
|
|
NM_000232.5(SGCB):c.656_657del (p.Lys219fs)
|
rs775458201
|
|
NM_000232.5(SGCB):c.661_662insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAGTTG (p.Val220_Asp221insGlyProGlyAlaValAlaHisAlaCysAsnProSerThrLeuGlyGlyArgGlyGlyArgIleThrArgSerXaaXaaXaaLysLysLysLysLysLysLysLysVal)
|
|
|
NM_000232.5(SGCB):c.683G>A (p.Gly228Glu)
|
rs1737147925
|
|
NM_000232.5(SGCB):c.708_709insTTTTCATTATGGGC (p.Lys237fs)
|
|
|
NM_000232.5(SGCB):c.735_736del (p.Asn246fs)
|
rs2109369924
|
|
NM_000232.5(SGCB):c.82G>T (p.Glu28Ter)
|
rs771814273
|
|
NM_000232.5(SGCB):c.82_86del (p.Glu28fs)
|
rs1553940687
|
|
NM_000232.5(SGCB):c.85dup (p.Arg29fs)
|
rs2109376054
|
|
NM_000232.5(SGCB):c.87_89del (p.Arg30del)
|
rs780654411
|
|
NM_000232.5:c.74_283del
|
|
|