NM_000317.3(PTS):c.317C>T (p.Thr106Met)
|
rs200712908
|
0.00010
|
NM_000317.3(PTS):c.164-672C>T
|
rs1030849527
|
0.00004
|
NM_000317.3(PTS):c.243_243+1dup
|
rs866922524
|
0.00003
|
NM_000317.3(PTS):c.338A>G (p.Tyr113Cys)
|
rs762894736
|
0.00003
|
NM_000317.3(PTS):c.370G>T (p.Val124Leu)
|
rs150726932
|
0.00003
|
NM_000317.3(PTS):c.84-291A>G
|
rs1480995114
|
0.00003
|
NM_000317.3(PTS):c.400G>A (p.Glu134Lys)
|
rs779681799
|
0.00002
|
NM_000317.3(PTS):c.84-3C>G
|
rs1230781262
|
0.00002
|
NM_000161.3(GCH1):c.274C>A (p.Leu92Ile)
|
rs763294577
|
0.00001
|
NM_000317.3(PTS):c.104A>G (p.Glu35Gly)
|
rs1328320990
|
0.00001
|
NM_000317.3(PTS):c.186+1G>T
|
rs1256819927
|
0.00001
|
NM_000317.3(PTS):c.243+2T>C
|
rs759363496
|
0.00001
|
NM_000317.3(PTS):c.260C>T (p.Pro87Leu)
|
rs765406631
|
0.00001
|
NM_000317.3(PTS):c.297C>A (p.Tyr99Ter)
|
rs145882709
|
0.00001
|
NM_000317.3(PTS):c.315-1G>C
|
rs776543880
|
0.00001
|
NM_000317.3(PTS):c.347A>G (p.Asp116Gly)
|
rs104894279
|
0.00001
|
NM_000317.3(PTS):c.367C>T (p.Pro123Ser)
|
rs141163668
|
0.00001
|
NM_000317.3(PTS):c.379C>G (p.Leu127Val)
|
rs1859971515
|
0.00001
|
NM_000317.3(PTS):c.46C>T (p.Arg16Cys)
|
rs104894274
|
0.00001
|
NM_000317.3(PTS):c.78G>T (p.Leu26Phe)
|
rs1317230624
|
0.00001
|
NM_000317.3(PTS):c.95G>A (p.Ser32Asn)
|
rs374871539
|
0.00001
|
NM_000317.3(PTS):c.-24_9del
|
rs2135407114
|
|
NM_000317.3(PTS):c.108C>G (p.Asn36Lys)
|
rs1449216377
|
|
NM_000317.3(PTS):c.146A>G (p.His49Arg)
|
rs750229518
|
|
NM_000317.3(PTS):c.163+1G>T
|
rs2135408292
|
|
NM_000317.3(PTS):c.164-2A>G
|
rs1555198233
|
|
NM_000317.3(PTS):c.164-716A>T
|
rs1859903893
|
|
NM_000317.3(PTS):c.166G>A (p.Val56Met)
|
rs104894277
|
|
NM_000317.3(PTS):c.166GTG[1] (p.Val57del)
|
rs770387277
|
|
NM_000317.3(PTS):c.174_175del (p.Val59fs)
|
rs2135408968
|
|
NM_000317.3(PTS):c.187-2A>G
|
rs2135409169
|
|
NM_000317.3(PTS):c.208del (p.Val70fs)
|
|
|
NM_000317.3(PTS):c.227_228del (p.Leu76fs)
|
rs1555198263
|
|
NM_000317.3(PTS):c.238A>G (p.Met80Val)
|
rs1057517810
|
|
NM_000317.3(PTS):c.23_27dup (p.Cys10fs)
|
|
|
NM_000317.3(PTS):c.243+1G>T
|
|
|
NM_000317.3(PTS):c.244-1G>T
|
rs1555198451
|
|
NM_000317.3(PTS):c.245A>G (p.Glu82Gly)
|
|
|
NM_000317.3(PTS):c.256C>T (p.Gln86Ter)
|
|
|
NM_000317.3(PTS):c.271A>G (p.Lys91Glu)
|
|
|
NM_000317.3(PTS):c.281A>G (p.Asp94Gly)
|
rs1057517811
|
|
NM_000317.3(PTS):c.2T>G (p.Met1Arg)
|
rs1859865221
|
|
NM_000317.3(PTS):c.314+1G>C
|
rs1555198462
|
|
NM_000317.3(PTS):c.315-2A>G
|
rs1555198483
|
|
NM_000317.3(PTS):c.337del (p.Tyr113fs)
|
rs1555198494
|
|
NM_000317.3(PTS):c.342C>G (p.Ile114Met)
|
rs17851590
|
|
NM_000317.3(PTS):c.351C>A (p.Asn117Lys)
|
rs2135410460
|
|
NM_000317.3(PTS):c.385A>G (p.Lys129Glu)
|
|
|
NM_000317.3(PTS):c.393del (p.Val132fs)
|
rs780332520
|
|
NM_000317.3(PTS):c.399C>G (p.Tyr133Ter)
|
|
|
NM_000317.3(PTS):c.400G>T (p.Glu134Ter)
|
rs779681799
|
|
NM_000317.3(PTS):c.407A>G (p.Asp136Gly)
|
rs1859972447
|
|
NM_000317.3(PTS):c.407A>T (p.Asp136Val)
|
rs1859972447
|
|
NM_000317.3(PTS):c.65C>G (p.Ala22Gly)
|
rs2135407190
|
|
NM_000317.3(PTS):c.73C>G (p.Arg25Gly)
|
rs1167104933
|
|
NM_000317.3(PTS):c.74G>A (p.Arg25Gln)
|
rs104894273
|
|
NM_000317.3(PTS):c.83+1G>A
|
rs927103678
|
|
NM_000317.3(PTS):c.83+1G>C
|
|
|
NM_000317.3(PTS):c.84-1G>A
|
|
|
NM_000317.3(PTS):c.84-2A>G
|
|
|