NM_000161.3(GCH1):c.68C>T (p.Pro23Leu)
|
rs41298432
|
0.00389
|
NM_000161.3(GCH1):c.*93G>A
|
rs41298438
|
0.00249
|
NM_000161.3(GCH1):c.*736A>G
|
rs150176097
|
0.00151
|
NM_000161.3(GCH1):c.*1628A>C
|
rs185031007
|
0.00106
|
NM_000161.3(GCH1):c.*1044G>A
|
rs143961472
|
0.00088
|
NM_000161.3(GCH1):c.671A>G (p.Lys224Arg)
|
rs41298442
|
0.00039
|
NM_000161.3(GCH1):c.*1719C>T
|
rs551251353
|
0.00038
|
NM_000161.3(GCH1):c.206C>T (p.Pro69Leu)
|
rs56127440
|
0.00035
|
NM_000161.3(GCH1):c.507G>A (p.Ala169=)
|
rs150158277
|
0.00029
|
NM_000161.3(GCH1):c.*612C>T
|
rs551381738
|
0.00022
|
NM_000161.3(GCH1):c.*715G>T
|
rs886050545
|
0.00022
|
NM_000161.3(GCH1):c.*1033C>T
|
rs867220379
|
0.00015
|
NM_000161.3(GCH1):c.-56G>A
|
rs866010535
|
0.00013
|
NM_000161.3(GCH1):c.453+6G>A
|
rs766668821
|
0.00013
|
NM_000161.3(GCH1):c.*695T>A
|
rs996768677
|
0.00012
|
NM_000161.3(GCH1):c.*721A>G
|
rs759090432
|
0.00012
|
NM_000161.3(GCH1):c.586G>T (p.Ala196Ser)
|
rs104894436
|
0.00010
|
NM_000161.3(GCH1):c.328C>G (p.Gln110Glu)
|
rs748944982
|
0.00009
|
NM_000161.3(GCH1):c.593G>A (p.Arg198Gln)
|
rs201238926
|
0.00009
|
NM_000161.3(GCH1):c.610G>A (p.Val204Ile)
|
rs200891969
|
0.00009
|
NM_000161.3(GCH1):c.509+3A>G
|
rs369661042
|
0.00008
|
NM_000161.3(GCH1):c.297C>T (p.Ala99=)
|
rs776450369
|
0.00007
|
NM_000161.3(GCH1):c.*1010C>T
|
rs764569623
|
0.00006
|
NM_000161.3(GCH1):c.*1257C>T
|
rs763425111
|
0.00006
|
NM_000161.3(GCH1):c.*367G>A
|
rs886050548
|
0.00006
|
NM_000161.3(GCH1):c.-125A>C
|
rs886050554
|
0.00006
|
NM_000161.3(GCH1):c.582G>A (p.Thr194=)
|
rs199836777
|
0.00006
|
NM_000161.3(GCH1):c.*1824A>C
|
rs754395380
|
0.00005
|
NM_000161.3(GCH1):c.543T>G (p.Val181=)
|
rs765670568
|
0.00005
|
NM_000161.3(GCH1):c.*1058G>A
|
rs995386735
|
0.00004
|
NM_000161.3(GCH1):c.*441G>A
|
rs146536998
|
0.00004
|
NM_000161.3(GCH1):c.-106G>A
|
rs886050553
|
0.00004
|
NM_000161.3(GCH1):c.*507C>G
|
rs886050547
|
0.00003
|
NM_000161.3(GCH1):c.509+8T>A
|
rs753570450
|
0.00003
|
NM_000161.3(GCH1):c.*34C>T
|
rs757193609
|
0.00002
|
NM_000161.3(GCH1):c.193G>C (p.Glu65Gln)
|
rs1281386674
|
0.00002
|
NM_000161.3(GCH1):c.195G>A (p.Glu65=)
|
rs139350456
|
0.00002
|
NM_000161.3(GCH1):c.299C>T (p.Ser100Leu)
|
rs527416949
|
0.00002
|
NM_000161.3(GCH1):c.662T>C (p.Met221Thr)
|
rs104894434
|
0.00002
|
NM_000161.3(GCH1):c.737C>T (p.Thr246Ile)
|
rs989328098
|
0.00002
|
NM_000161.3(GCH1):c.83C>T (p.Pro28Leu)
|
rs774568081
|
0.00002
|
NM_000161.3(GCH1):c.89C>G (p.Pro30Arg)
|
rs1477733062
|
0.00002
|
NM_000161.3(GCH1):c.*1042A>G
|
rs549379993
|
0.00001
|
NM_000161.3(GCH1):c.*1855A>G
|
rs1357329918
|
0.00001
|
NM_000161.3(GCH1):c.*617A>G
|
rs886050546
|
0.00001
|
NM_000161.3(GCH1):c.*641G>A
|
rs1350159556
|
0.00001
|
NM_000161.3(GCH1):c.-5G>C
|
rs886050550
|
0.00001
|
NM_000161.3(GCH1):c.22G>A (p.Ala8Thr)
|
rs529381971
|
0.00001
|
NM_000161.3(GCH1):c.250G>C (p.Glu84Gln)
|
rs755556239
|
0.00001
|
NM_000161.3(GCH1):c.334A>G (p.Thr112Ala)
|
rs199990434
|
0.00001
|
NM_000161.3(GCH1):c.524A>T (p.Tyr175Phe)
|
rs781250171
|
0.00001
|
NM_000161.3(GCH1):c.571G>A (p.Val191Ile)
|
rs762208304
|
0.00001
|
NM_000161.3(GCH1):c.59A>G (p.Asn20Ser)
|
rs2040586742
|
0.00001
|
NM_000161.3(GCH1):c.627-12C>T
|
rs886050549
|
0.00001
|
NC_000014.8:g.(?_55310492)_(55332164_?)dup
|
|
|
NC_000014.8:g.(?_55326389)_(55369420_?)dup
|
|
|
NM_000161.3(GCH1):c.*1283A>C
|
rs886050544
|
|
NM_000161.3(GCH1):c.*1294A>G
|
rs2039576937
|
|
NM_000161.3(GCH1):c.*1473A>G
|
rs886050543
|
|
NM_000161.3(GCH1):c.*155AATA[1]
|
rs752359690
|
|
NM_000161.3(GCH1):c.*1907A>G
|
rs886050542
|
|
NM_000161.3(GCH1):c.*243C>G
|
rs841
|
|
NM_000161.3(GCH1):c.*278C>T
|
rs756583192
|
|
NM_000161.3(GCH1):c.*727A>G
|
rs138578359
|
|
NM_000161.3(GCH1):c.*830A>T
|
rs542811477
|
|
NM_000161.3(GCH1):c.*935A>C
|
rs2039584676
|
|
NM_000161.3(GCH1):c.-72C>T
|
rs886050551
|
|
NM_000161.3(GCH1):c.-98C>T
|
rs886050552
|
|
NM_000161.3(GCH1):c.10G>A (p.Gly4Ser)
|
|
|
NM_000161.3(GCH1):c.115C>A (p.Pro39Thr)
|
rs770932357
|
|
NM_000161.3(GCH1):c.119C>G (p.Pro40Arg)
|
rs995999325
|
|
NM_000161.3(GCH1):c.11G>A (p.Gly4Asp)
|
rs2140127797
|
|
NM_000161.3(GCH1):c.137G>A (p.Ser46Asn)
|
|
|
NM_000161.3(GCH1):c.138C>A (p.Ser46Arg)
|
|
|
NM_000161.3(GCH1):c.13C>G (p.Pro5Ala)
|
rs2040587976
|
|
NM_000161.3(GCH1):c.140C>A (p.Ala47Glu)
|
rs2040584415
|
|
NM_000161.3(GCH1):c.140C>T (p.Ala47Val)
|
|
|
NM_000161.3(GCH1):c.145C>T (p.Pro49Ser)
|
|
|
NM_000161.3(GCH1):c.153C>A (p.Asp51Glu)
|
rs745516526
|
|
NM_000161.3(GCH1):c.154G>A (p.Gly52Ser)
|
|
|
NM_000161.3(GCH1):c.154G>T (p.Gly52Cys)
|
|
|
NM_000161.3(GCH1):c.163G>A (p.Gly55Ser)
|
rs2140127419
|
|
NM_000161.3(GCH1):c.164G>A (p.Gly55Asp)
|
|
|
NM_000161.3(GCH1):c.16G>T (p.Val6Leu)
|
rs1413964407
|
|
NM_000161.3(GCH1):c.170G>A (p.Arg57Gln)
|
|
|
NM_000161.3(GCH1):c.172C>T (p.Pro58Ser)
|
rs2040583643
|
|
NM_000161.3(GCH1):c.175C>G (p.Arg59Gly)
|
|
|
NM_000161.3(GCH1):c.186G>T (p.Glu62Asp)
|
rs752590798
|
|
NM_000161.3(GCH1):c.187G>A (p.Asp63Asn)
|
|
|
NM_000161.3(GCH1):c.194A>T (p.Glu65Val)
|
rs2140127337
|
|
NM_000161.3(GCH1):c.197T>C (p.Leu66Pro)
|
rs1042390728
|
|
NM_000161.3(GCH1):c.202C>T (p.Leu68Phe)
|
|
|
NM_000161.3(GCH1):c.215C>G (p.Ala72Gly)
|
|
|
NM_000161.3(GCH1):c.229_246del (p.Ser77_Leu82del)
|
rs2140127202
|
|
NM_000161.3(GCH1):c.22G>C (p.Ala8Pro)
|
rs529381971
|
|
NM_000161.3(GCH1):c.22G>T (p.Ala8Ser)
|
rs529381971
|
|
NM_000161.3(GCH1):c.230C>G (p.Ser77Cys)
|
rs748666093
|
|
NM_000161.3(GCH1):c.238A>T (p.Ser80Cys)
|
rs2140127221
|
|
NM_000161.3(GCH1):c.241T>C (p.Ser81Pro)
|
rs2140127208
|
|
NM_000161.3(GCH1):c.257C>G (p.Pro86Arg)
|
rs1555362836
|
|
NM_000161.3(GCH1):c.25C>T (p.Pro9Ser)
|
|
|
NM_000161.3(GCH1):c.260A>C (p.Gln87Pro)
|
rs1595031190
|
|
NM_000161.3(GCH1):c.261G>T (p.Gln87His)
|
|
|
NM_000161.3(GCH1):c.266A>G (p.Gln89Arg)
|
rs2140127145
|
|
NM_000161.3(GCH1):c.274C>T (p.Leu92Phe)
|
rs763294577
|
|
NM_000161.3(GCH1):c.275T>C (p.Leu92Pro)
|
|
|
NM_000161.3(GCH1):c.279G>T (p.Lys93Asn)
|
|
|
NM_000161.3(GCH1):c.280A>G (p.Thr94Ala)
|
|
|
NM_000161.3(GCH1):c.289A>T (p.Arg97Trp)
|
rs2140127094
|
|
NM_000161.3(GCH1):c.295G>C (p.Ala99Pro)
|
rs1566687219
|
|
NM_000161.3(GCH1):c.298T>C (p.Ser100Pro)
|
|
|
NM_000161.3(GCH1):c.305T>C (p.Met102Thr)
|
rs2140127042
|
|
NM_000161.3(GCH1):c.321G>C (p.Lys107Asn)
|
rs1375057499
|
|
NM_000161.3(GCH1):c.343+3C>T
|
|
|
NM_000161.3(GCH1):c.344-3C>G
|
rs2039977194
|
|
NM_000161.3(GCH1):c.355G>A (p.Asp119Asn)
|
|
|
NM_000161.3(GCH1):c.361A>G (p.Ile121Val)
|
|
|
NM_000161.3(GCH1):c.367G>A (p.Asp123Asn)
|
rs2140074143
|
|
NM_000161.3(GCH1):c.394G>A (p.Val132Met)
|
|
|
NM_000161.3(GCH1):c.395T>C (p.Val132Ala)
|
rs1555360034
|
|
NM_000161.3(GCH1):c.416C>T (p.Ser139Phe)
|
rs144542994
|
|
NM_000161.3(GCH1):c.418A>G (p.Met140Val)
|
|
|
NM_000161.3(GCH1):c.420G>A (p.Met140Ile)
|
rs1360081603
|
|
NM_000161.3(GCH1):c.423T>G (p.Cys141Trp)
|
rs2140074056
|
|
NM_000161.3(GCH1):c.435G>T (p.Leu145Phe)
|
rs763677193
|
|
NM_000161.3(GCH1):c.439C>A (p.Pro147Thr)
|
|
|
NM_000161.3(GCH1):c.43G>A (p.Gly15Ser)
|
|
|
NM_000161.3(GCH1):c.440C>T (p.Pro147Leu)
|
rs1594989087
|
|
NM_000161.3(GCH1):c.452A>G (p.Lys151Arg)
|
rs2140073994
|
|
NM_000161.3(GCH1):c.453+6G>T
|
|
|
NM_000161.3(GCH1):c.458A>G (p.His153Arg)
|
|
|
NM_000161.3(GCH1):c.460A>G (p.Ile154Val)
|
|
|
NM_000161.3(GCH1):c.462T>G (p.Ile154Met)
|
rs1566665914
|
|
NM_000161.3(GCH1):c.476A>G (p.Asn159Ser)
|
|
|
NM_000161.3(GCH1):c.491G>C (p.Gly164Ala)
|
|
|
NM_000161.3(GCH1):c.493C>T (p.Leu165Phe)
|
|
|
NM_000161.3(GCH1):c.506C>G (p.Ala169Gly)
|
|
|
NM_000161.3(GCH1):c.507G>C (p.Ala169=)
|
rs150158277
|
|
NM_000161.3(GCH1):c.508A>G (p.Arg170Gly)
|
rs2039865673
|
|
NM_000161.3(GCH1):c.509+2795T>A
|
|
|
NM_000161.3(GCH1):c.509+6T>C
|
rs2140063307
|
|
NM_000161.3(GCH1):c.514G>A (p.Val172Ile)
|
rs1566660315
|
|
NM_000161.3(GCH1):c.514G>T (p.Val172Leu)
|
rs1566660315
|
|
NM_000161.3(GCH1):c.541G>A (p.Val181Ile)
|
|
|
NM_000161.3(GCH1):c.542-12T>C
|
|
|
NM_000161.3(GCH1):c.575C>T (p.Ala192Val)
|
|
|
NM_000161.3(GCH1):c.581C>T (p.Thr194Met)
|
|
|
NM_000161.3(GCH1):c.591G>C (p.Leu197Phe)
|
|
|
NM_000161.3(GCH1):c.592C>T (p.Arg198Trp)
|
rs752447862
|
|
NM_000161.3(GCH1):c.596C>T (p.Pro199Leu)
|
rs2140041686
|
|
NM_000161.3(GCH1):c.599C>G (p.Ala200Gly)
|
|
|
NM_000161.3(GCH1):c.617T>C (p.Val206Ala)
|
rs773159175
|
|
NM_000161.3(GCH1):c.621A>T (p.Glu207Asp)
|
rs2140041594
|
|
NM_000161.3(GCH1):c.626+5G>A
|
|
|
NM_000161.3(GCH1):c.626+5G>C
|
rs1594970015
|
|
NM_000161.3(GCH1):c.626+6T>G
|
|
|
NM_000161.3(GCH1):c.626+9G>T
|
rs374007793
|
|
NM_000161.3(GCH1):c.626C>T (p.Thr209Ile)
|
rs141634133
|
|
NM_000161.3(GCH1):c.627-2A>G
|
|
|
NM_000161.3(GCH1):c.627-9_627-7del
|
|
|
NM_000161.3(GCH1):c.634T>C (p.Cys212Arg)
|
rs2039604113
|
|
NM_000161.3(GCH1):c.635G>A (p.Cys212Tyr)
|
|
|
NM_000161.3(GCH1):c.641T>C (p.Val214Ala)
|
rs2140038925
|
|
NM_000161.3(GCH1):c.647G>C (p.Arg216Pro)
|
rs2039603118
|
|
NM_000161.3(GCH1):c.649G>A (p.Gly217Ser)
|
|
|
NM_000161.3(GCH1):c.650G>T (p.Gly217Val)
|
rs2039603046
|
|
NM_000161.3(GCH1):c.661A>G (p.Met221Val)
|
|
|
NM_000161.3(GCH1):c.666C>T (p.Asn222=)
|
|
|
NM_000161.3(GCH1):c.676G>C (p.Val226Leu)
|
rs2140038840
|
|
NM_000161.3(GCH1):c.677T>A (p.Val226Glu)
|
rs776426317
|
|
NM_000161.3(GCH1):c.689T>C (p.Met230Thr)
|
rs2140038798
|
|
NM_000161.3(GCH1):c.694G>C (p.Gly232Arg)
|
|
|
NM_000161.3(GCH1):c.695G>A (p.Gly232Asp)
|
rs2140038792
|
|
NM_000161.3(GCH1):c.704G>A (p.Arg235Gln)
|
rs1555358380
|
|
NM_000161.3(GCH1):c.709G>A (p.Asp237Asn)
|
rs2140038782
|
|
NM_000161.3(GCH1):c.712C>A (p.Pro238Thr)
|
rs2140038781
|
|
NM_000161.3(GCH1):c.721C>T (p.Arg241Trp)
|
|
|
NM_000161.3(GCH1):c.724G>T (p.Glu242Ter)
|
rs1296731359
|
|
NM_000161.3(GCH1):c.73C>T (p.Arg25Trp)
|
|
|
NM_000161.3(GCH1):c.745A>G (p.Arg249Gly)
|
rs2039600745
|
|
NM_000161.3(GCH1):c.747_748delinsCT (p.Arg249_Ser250delinsSerCys)
|
|
|
NM_000161.3(GCH1):c.750C>T (p.Ser250=)
|
|
|
NM_000161.3(GCH1):c.753A>C (p.Ter251Cys)
|
rs1555358379
|
|
NM_000161.3(GCH1):c.82C>T (p.Pro28Ser)
|
|
|
NM_000161.3(GCH1):c.91G>C (p.Gly31Arg)
|
|
|
NM_000161.3(GCH1):c.97A>T (p.Ser33Cys)
|
rs1373130817
|
|
NM_000317.3(PTS):c.91C>A (p.Leu31Ile)
|
|
|