NM_032520.5(GNPTG):c.238_243del (p.Lys80_Tyr81del)
|
rs773452586
|
0.00008
|
NM_032520.5(GNPTG):c.758C>A (p.Ser253Ter)
|
rs761299690
|
0.00008
|
NM_032520.5(GNPTG):c.610-2A>G
|
rs193302855
|
0.00004
|
NM_032520.5(GNPTG):c.196C>T (p.Arg66Ter)
|
rs193302848
|
0.00001
|
NM_032520.5(GNPTG):c.233+1G>A
|
rs376679416
|
0.00001
|
NM_032520.5(GNPTG):c.271C>T (p.Gln91Ter)
|
rs1394867404
|
0.00001
|
NM_032520.5(GNPTG):c.316G>A (p.Gly106Ser)
|
rs137852885
|
0.00001
|
NM_032520.5(GNPTG):c.527-10G>A
|
rs1336176104
|
0.00001
|
NM_032520.4(GNPTG):c.499dup (p.Leu167Profs)
|
rs756959430
|
|
NM_032520.4(GNPTG):c.611delG
|
rs193302856
|
|
NM_032520.5(GNPTG):c.125_126delinsAG (p.Phe42Ter)
|
|
|
NM_032520.5(GNPTG):c.133C>T (p.Gln45Ter)
|
rs2141633130
|
|
NM_032520.5(GNPTG):c.183dup (p.Val62fs)
|
rs1291377834
|
|
NM_032520.5(GNPTG):c.187dup (p.His63fs)
|
|
|
NM_032520.5(GNPTG):c.190_193dup (p.Phe65fs)
|
rs2141861740
|
|
NM_032520.5(GNPTG):c.202del (p.Ser68fs)
|
|
|
NM_032520.5(GNPTG):c.203C>A (p.Ser68Ter)
|
rs552402857
|
|
NM_032520.5(GNPTG):c.233+1G>C
|
rs376679416
|
|
NM_032520.5(GNPTG):c.234-1G>A
|
rs112850896
|
|
NM_032520.5(GNPTG):c.234-1G>C
|
rs112850896
|
|
NM_032520.5(GNPTG):c.242_243del (p.Lys80_Tyr81insTer)
|
rs1555451643
|
|
NM_032520.5(GNPTG):c.294G>A (p.Trp98Ter)
|
rs757581909
|
|
NM_032520.5(GNPTG):c.300del (p.Tyr101fs)
|
|
|
NM_032520.5(GNPTG):c.318-1G>A
|
rs193302847
|
|
NM_032520.5(GNPTG):c.318-1G>C
|
rs193302847
|
|
NM_032520.5(GNPTG):c.318-28_351del
|
rs2034895916
|
|
NM_032520.5(GNPTG):c.328G>T (p.Glu110Ter)
|
rs763678034
|
|
NM_032520.5(GNPTG):c.333G>A (p.Trp111Ter)
|
rs137852884
|
|
NM_032520.5(GNPTG):c.344ACA[1] (p.Asn116del)
|
rs193302849
|
|
NM_032520.5(GNPTG):c.355_356dup (p.Gly120fs)
|
|
|
NM_032520.5(GNPTG):c.363_364insA (p.Trp122fs)
|
|
|
NM_032520.5(GNPTG):c.365G>A (p.Trp122Ter)
|
rs1291093292
|
|
NM_032520.5(GNPTG):c.366G>A (p.Trp122Ter)
|
rs757394606
|
|
NM_032520.5(GNPTG):c.384_385dup (p.Cys129fs)
|
|
|
NM_032520.5(GNPTG):c.385_400del (p.Cys129fs)
|
rs2141862610
|
|
NM_032520.5(GNPTG):c.417_429del (p.Leu140fs)
|
rs2141862900
|
|
NM_032520.5(GNPTG):c.436_446del (p.Asn146fs)
|
rs1555451874
|
|
NM_032520.5(GNPTG):c.445del (p.Ala149fs)
|
rs281864956
|
|
NM_032520.5(GNPTG):c.461_465del (p.Pro154fs)
|
|
|
NM_032520.5(GNPTG):c.478_479insTAGG (p.Ala160fs)
|
rs753596034
|
|
NM_032520.5(GNPTG):c.514del (p.His172fs)
|
rs1321245057
|
|
NM_032520.5(GNPTG):c.564G>A (p.Trp188Ter)
|
|
|
NM_032520.5(GNPTG):c.568C>T (p.Gln190Ter)
|
|
|
NM_032520.5(GNPTG):c.571del (p.Gln190_Val191insTer)
|
rs2141863595
|
|
NM_032520.5(GNPTG):c.592G>T (p.Glu198Ter)
|
|
|
NM_032520.5(GNPTG):c.601_602dup (p.Gln203fs)
|
rs2141863669
|
|
NM_032520.5(GNPTG):c.607C>T (p.Gln203Ter)
|
rs2141863683
|
|
NM_032520.5(GNPTG):c.607dup (p.Gln203fs)
|
rs756225251
|
|
NM_032520.5(GNPTG):c.608dup (p.His205fs)
|
|
|
NM_032520.5(GNPTG):c.609+1G>A
|
|
|
NM_032520.5(GNPTG):c.609+1G>T
|
rs1260510628
|
|
NM_032520.5(GNPTG):c.609+1del
|
|
|
NM_032520.5(GNPTG):c.609+28_610-16del
|
rs193302853
|
|
NM_032520.5(GNPTG):c.609+2T>G
|
|
|
NM_032520.5(GNPTG):c.610-1G>A
|
|
|
NM_032520.5(GNPTG):c.610-1G>T
|
rs193302854
|
|
NM_032520.5(GNPTG):c.632_639dup (p.Glu214fs)
|
|
|
NM_032520.5(GNPTG):c.636_648del (p.Phe213fs)
|
|
|
NM_032520.5(GNPTG):c.638_639del (p.Leu212_Phe213insTer)
|
rs193302858
|
|
NM_032520.5(GNPTG):c.639del (p.Phe213fs)
|
rs193302858
|
|
NM_032520.5(GNPTG):c.640_667del (p.Glu214fs)
|
rs193302859
|
|
NM_032520.5(GNPTG):c.654_657del (p.Gly217_Tyr218insTer)
|
|
|
NM_032520.5(GNPTG):c.658A>T (p.Lys220Ter)
|
rs2034926616
|
|
NM_032520.5(GNPTG):c.659dup (p.Thr221fs)
|
rs2141864067
|
|
NM_032520.5(GNPTG):c.665del (p.Pro222fs)
|
|
|
NM_032520.5(GNPTG):c.665dup (p.Glu223fs)
|
rs2141864091
|
|
NM_032520.5(GNPTG):c.670G>T (p.Glu224Ter)
|
|
|
NM_032520.5(GNPTG):c.685C>T (p.Gln229Ter)
|
rs2141864128
|
|
NM_032520.5(GNPTG):c.701del (p.Pro234fs)
|
|
|
NM_032520.5(GNPTG):c.714del (p.Phe239fs)
|
rs776107971
|
|
NM_032520.5(GNPTG):c.717del (p.Phe239fs)
|
rs2141864300
|
|
NM_032520.5(GNPTG):c.735C>A (p.Cys245Ter)
|
rs2141864418
|
|
NM_032520.5(GNPTG):c.739A>T (p.Lys247Ter)
|
rs1451538466
|
|
NM_032520.5(GNPTG):c.750_753del (p.Lys250fs)
|
rs766055577
|
|
NM_032520.5(GNPTG):c.751G>T (p.Glu251Ter)
|
rs1555452081
|
|