NM_000202.8(IDS):c.641C>T (p.Thr214Met)
|
rs61736892
|
0.01492
|
NM_000202.8(IDS):c.1004A>G (p.His335Arg)
|
|
|
NM_000202.8(IDS):c.1006+1G>A
|
rs869025308
|
|
NM_000202.8(IDS):c.1006+1G>C
|
|
|
NM_000202.8(IDS):c.1006+1G>T
|
rs869025308
|
|
NM_000202.8(IDS):c.1006+2T>G
|
rs2089378420
|
|
NM_000202.8(IDS):c.1007-1G>A
|
|
|
NM_000202.8(IDS):c.1016T>C (p.Leu339Pro)
|
rs864622771
|
|
NM_000202.8(IDS):c.1019G>A (p.Gly340Asp)
|
|
|
NM_000202.8(IDS):c.1028G>A (p.Gly343Glu)
|
rs2089343063
|
|
NM_000202.8(IDS):c.1033T>A (p.Trp345Arg)
|
rs193302906
|
|
NM_000202.8(IDS):c.1034G>C (p.Trp345Ser)
|
rs2089342988
|
|
NM_000202.8(IDS):c.1035G>T (p.Trp345Cys)
|
|
|
NM_000202.8(IDS):c.1044C>G (p.Tyr348Ter)
|
rs1569560392
|
|
NM_000202.8(IDS):c.1047C>A (p.Ser349Arg)
|
rs375836575
|
|
NM_000202.8(IDS):c.1106C>A (p.Ser369Ter)
|
rs1557338127
|
|
NM_000202.8(IDS):c.1115del (p.Glu372fs)
|
rs2124005776
|
|
NM_000202.8(IDS):c.1122C>T (p.Gly374=)
|
rs113993948
|
|
NM_000202.8(IDS):c.1123G>T (p.Glu375Ter)
|
rs782634993
|
|
NM_000202.8(IDS):c.1129del (p.Leu377fs)
|
rs2089341718
|
|
NM_000202.8(IDS):c.1132_1133del (p.Phe378fs)
|
rs869025306
|
|
NM_000202.8(IDS):c.1150_1151insAAAGGGTCGCA (p.Phe384Ter)
|
rs2089341188
|
|
NM_000202.8(IDS):c.1165C>T (p.Gln389Ter)
|
|
|
NM_000202.8(IDS):c.419-1G>A
|
rs1557339927
|
|
NM_000202.8(IDS):c.419-2A>G
|
rs2089476206
|
|
NM_000202.8(IDS):c.425C>A (p.Ser142Tyr)
|
rs193302908
|
|
NM_000202.8(IDS):c.458G>A (p.Trp153Ter)
|
rs2124055460
|
|
NM_000202.8(IDS):c.463_464delinsCCGTATAGCTGG (p.Phe155fs)
|
rs869025304
|
|
NM_000202.8(IDS):c.469C>T (p.Pro157Ser)
|
rs864622774
|
|
NM_000202.8(IDS):c.473ATC[1] (p.His159del)
|
rs1557339887
|
|
NM_000202.8(IDS):c.474del (p.His159fs)
|
rs2124055341
|
|
NM_000202.8(IDS):c.479C>G (p.Pro160Arg)
|
rs104894856
|
|
NM_000202.8(IDS):c.507+1G>A
|
rs2124055167
|
|
NM_000202.8(IDS):c.507+2T>G
|
rs2124055161
|
|
NM_000202.8(IDS):c.508-1G>A
|
rs113993947
|
|
NM_000202.8(IDS):c.508-1G>C
|
rs113993947
|
|
NM_000202.8(IDS):c.509_510del (p.Thr170fs)
|
rs483352904
|
|
NM_000202.8(IDS):c.512G>A (p.Cys171Tyr)
|
rs2089452802
|
|
NM_000202.8(IDS):c.514C>T (p.Arg172Ter)
|
rs104894860
|
|
NM_000202.8(IDS):c.551G>T (p.Cys184Phe)
|
|
|
NM_000202.8(IDS):c.589_592del (p.Pro197fs)
|
rs1602742854
|
|
NM_000202.8(IDS):c.590C>T (p.Pro197Leu)
|
rs2089451912
|
|
NM_000202.8(IDS):c.592G>A (p.Asp198Asn)
|
rs193302904
|
|
NM_000202.8(IDS):c.594_595del (p.Asp198fs)
|
rs2124046923
|
|
NM_000202.8(IDS):c.596_599del (p.Lys199fs)
|
rs2089451657
|
|
NM_000202.8(IDS):c.601_602del (p.Ser201fs)
|
rs2124046861
|
|
NM_000202.8(IDS):c.610C>T (p.Gln204Ter)
|
rs1557339532
|
|
NM_000202.8(IDS):c.613G>C (p.Ala205Pro)
|
rs864622779
|
|
NM_000202.8(IDS):c.613del (p.Ala205fs)
|
rs2089451478
|
|
NM_000202.8(IDS):c.622TTG[1] (p.Leu209del)
|
rs2089451270
|
|
NM_000202.8(IDS):c.623T>A (p.Leu208Ter)
|
|
|
NM_000202.8(IDS):c.653_654del (p.Pro218fs)
|
rs2089450982
|
|
NM_000202.8(IDS):c.683C>A (p.Pro228Gln)
|
rs113993945
|
|
NM_000202.8(IDS):c.683C>T (p.Pro228Leu)
|
rs113993945
|
|
NM_000202.8(IDS):c.686A>G (p.His229Arg)
|
|
|
NM_000202.8(IDS):c.687del (p.His229fs)
|
rs2089450471
|
|
NM_000202.8(IDS):c.692C>G (p.Pro231Arg)
|
rs2089450305
|
|
NM_000202.8(IDS):c.692C>T (p.Pro231Leu)
|
rs2089450305
|
|
NM_000202.8(IDS):c.702C>A (p.Tyr234Ter)
|
rs1569560489
|
|
NM_000202.8(IDS):c.708+1G>A
|
rs864622778
|
|
NM_000202.8(IDS):c.708+1G>T
|
rs864622778
|
|
NM_000202.8(IDS):c.708+2T>C
|
|
|
NM_000202.8(IDS):c.709-1G>A
|
rs2089438403
|
|
NM_000202.8(IDS):c.715_721del (p.Gln239fs)
|
rs2089438281
|
|
NM_000202.8(IDS):c.754_767del (p.Pro251_Asp252insTer)
|
rs869025305
|
|
NM_000202.8(IDS):c.776_777dup (p.Pro260fs)
|
rs2089437359
|
|
NM_000202.8(IDS):c.782del (p.Pro261fs)
|
|
|
NM_000202.8(IDS):c.786_787delinsC (p.Ala263fs)
|
rs2089437147
|
|
NM_000202.8(IDS):c.795C>A (p.Asn265Lys)
|
rs1207417919
|
|
NM_000202.8(IDS):c.800_801del (p.Trp267fs)
|
rs2089436972
|
|
NM_000202.8(IDS):c.801dup (p.Met268fs)
|
rs2089436936
|
|
NM_000202.8(IDS):c.814C>T (p.Gln272Ter)
|
rs2089436689
|
|
NM_000202.8(IDS):c.820G>T (p.Glu274Ter)
|
rs193302907
|
|
NM_000202.8(IDS):c.829C>T (p.Gln277Ter)
|
rs2089436387
|
|
NM_000202.8(IDS):c.838_842del (p.Asn280fs)
|
rs2089436271
|
|
NM_000202.8(IDS):c.867del (p.Val290fs)
|
|
|
NM_000202.8(IDS):c.880-2A>C
|
|
|
NM_000202.8(IDS):c.880-2A>G
|
|
|
NM_000202.8(IDS):c.880-2A>T
|
|
|
NM_000202.8(IDS):c.884A>T (p.Lys295Ile)
|
rs113993953
|
|
NM_000202.8(IDS):c.886dup (p.Ile296fs)
|
rs2124020896
|
|
NM_000202.8(IDS):c.895dup (p.Ser299fs)
|
rs2124020775
|
|
NM_000202.8(IDS):c.899_900del (p.Tyr300fs)
|
rs2089380268
|
|
NM_000202.8(IDS):c.908C>T (p.Ser303Phe)
|
rs2124020665
|
|
NM_000202.8(IDS):c.908_909del (p.Ser303fs)
|
rs193302913
|
|
NM_000202.8(IDS):c.935G>A (p.Gly312Asp)
|
rs193302912
|
|
NM_000202.8(IDS):c.955del (p.Asp319fs)
|
rs2124020278
|
|
NM_000202.8(IDS):c.984del (p.Ile329fs)
|
rs1602734459
|
|
NM_000202.8(IDS):c.998C>A (p.Ser333Ter)
|
rs104894853
|
|
NM_000202.8(IDS):c.998C>G (p.Ser333Trp)
|
rs104894853
|
|
NM_000202.8(IDS):c.998C>T (p.Ser333Leu)
|
rs104894853
|
|