NM_000317.3(PTS):c.163+14T>C
|
rs3819331
|
0.10984
|
NM_000317.3(PTS):c.405T>C (p.Thr135=)
|
rs59731976
|
0.03898
|
NM_000317.3(PTS):c.*60T>C
|
rs149320135
|
0.00631
|
NM_000317.3(PTS):c.315-3T>C
|
rs189365250
|
0.00436
|
NM_000277.3(PAH):c.1139C>T (p.Thr380Met)
|
rs62642937
|
0.00036
|
NM_000317.3(PTS):c.17G>T (p.Gly6Val)
|
rs138154701
|
0.00031
|
NM_000317.3(PTS):c.195T>C (p.Pro65=)
|
rs143472856
|
0.00026
|
NM_000277.3(PAH):c.506G>A (p.Arg169His)
|
rs199475679
|
0.00020
|
NM_000317.3(PTS):c.84-7T>G
|
rs76064679
|
0.00014
|
NM_000317.3(PTS):c.372A>T (p.Val124=)
|
rs139969809
|
0.00011
|
NM_000317.3(PTS):c.317C>T (p.Thr106Met)
|
rs200712908
|
0.00010
|
NM_000317.3(PTS):c.174A>G (p.Thr58=)
|
rs745627441
|
0.00009
|
NM_000317.3(PTS):c.399C>T (p.Tyr133=)
|
rs199603175
|
0.00006
|
NM_000317.3(PTS):c.132C>T (p.Asn44=)
|
rs763556416
|
0.00005
|
NM_000317.3(PTS):c.318G>A (p.Thr106=)
|
rs568878711
|
0.00005
|
NM_000317.3(PTS):c.*16T>C
|
rs760097954
|
0.00004
|
NM_000317.3(PTS):c.144C>T (p.Gly48=)
|
rs778754646
|
0.00004
|
NM_000317.3(PTS):c.164-672C>T
|
rs1030849527
|
0.00004
|
NM_000317.3(PTS):c.244-13G>C
|
rs374541778
|
0.00004
|
NM_000317.3(PTS):c.420G>T (p.Val140=)
|
rs146364246
|
0.00004
|
NM_000317.3(PTS):c.83+10G>C
|
rs372809628
|
0.00004
|
NM_000277.3(PAH):c.631C>A (p.Pro211Thr)
|
rs62514931
|
0.00003
|
NM_000317.3(PTS):c.151C>T (p.His51Tyr)
|
rs780284884
|
0.00003
|
NM_000317.3(PTS):c.243_243+1dup
|
rs866922524
|
0.00003
|
NM_000317.3(PTS):c.312G>A (p.Val104=)
|
rs148185068
|
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.186+9A>G
|
rs202139885
|
0.00002
|
NM_000317.3(PTS):c.192C>T (p.Asp64=)
|
rs201156784
|
0.00002
|
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_000277.3(PAH):c.442-5C>G
|
rs62514909
|
0.00001
|
NM_000277.3(PAH):c.490A>G (p.Ile164Val)
|
rs199475647
|
0.00001
|
NM_000317.3(PTS):c.*213A>G
|
rs916945270
|
0.00001
|
NM_000317.3(PTS):c.104A>G (p.Glu35Gly)
|
rs1328320990
|
0.00001
|
NM_000317.3(PTS):c.106A>G (p.Asn36Asp)
|
rs1374807422
|
0.00001
|
NM_000317.3(PTS):c.121G>A (p.Gly41Arg)
|
rs372852903
|
0.00001
|
NM_000317.3(PTS):c.155A>G (p.Asn52Ser)
|
rs104894275
|
0.00001
|
NM_000317.3(PTS):c.163+7G>A
|
rs1384844563
|
0.00001
|
NM_000317.3(PTS):c.186+1G>T
|
rs1256819927
|
0.00001
|
NM_000317.3(PTS):c.187A>G (p.Ile63Val)
|
rs778053171
|
0.00001
|
NM_000317.3(PTS):c.200C>T (p.Thr67Met)
|
rs370340361
|
0.00001
|
NM_000317.3(PTS):c.211A>G (p.Met71Val)
|
rs1296871450
|
0.00001
|
NM_000317.3(PTS):c.216T>A (p.Asn72Lys)
|
rs200279736
|
0.00001
|
NM_000317.3(PTS):c.228C>T (p.Leu76=)
|
rs772713545
|
0.00001
|
NM_000317.3(PTS):c.22C>T (p.Arg8Cys)
|
rs1859865574
|
0.00001
|
NM_000317.3(PTS):c.237T>C (p.Tyr79=)
|
rs766251710
|
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.279G>C (p.Leu93=)
|
rs1157712069
|
0.00001
|
NM_000317.3(PTS):c.286G>A (p.Asp96Asn)
|
rs104894280
|
0.00001
|
NM_000317.3(PTS):c.289G>A (p.Val97Met)
|
rs750455879
|
0.00001
|
NM_000317.3(PTS):c.292C>T (p.Pro98Ser)
|
rs1859964687
|
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.360A>T (p.Lys120Asn)
|
rs1859970916
|
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.45C>T (p.Ser15=)
|
rs756084052
|
0.00001
|
NM_000317.3(PTS):c.46C>T (p.Arg16Cys)
|
rs104894274
|
0.00001
|
NM_000317.3(PTS):c.66G>A (p.Ala22=)
|
rs1859866331
|
0.00001
|
NM_000317.3(PTS):c.74_76dup (p.Leu26Ter)
|
rs765777664
|
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
|
NC_000011.10:g.(?_112226434)_(112226536_?)del
|
|
|
NC_000011.10:g.(?_112226444)_(112233555_?)del
|
|
|
NC_000011.9:g.(?_111171709)_(112104278_?)dup
|
|
|
NC_000011.9:g.(?_112096088)_(112105696_?)del
|
|
|
NC_000011.9:g.(?_112097157)_(112104288_?)del
|
|
|
NC_000011.9:g.(?_112103876)_(112104288_?)del
|
|
|
NM_000277.3(PAH):c.527G>T (p.Arg176Leu)
|
rs74486803
|
|
NM_000317.3(PTS):c.*148C>A
|
rs910098440
|
|
NM_000317.3(PTS):c.*58G>C
|
rs1307423080
|
|
NM_000317.3(PTS):c.-24_9del
|
rs2135407114
|
|
NM_000317.3(PTS):c.105A>C (p.Glu35Asp)
|
|
|
NM_000317.3(PTS):c.107del (p.Asn36fs)
|
rs1859894340
|
|
NM_000317.3(PTS):c.108C>G (p.Asn36Lys)
|
rs1449216377
|
|
NM_000317.3(PTS):c.108C>T (p.Asn36=)
|
rs1449216377
|
|
NM_000317.3(PTS):c.117G>C (p.Leu39=)
|
rs2135408246
|
|
NM_000317.3(PTS):c.118T>C (p.Phe40Leu)
|
rs1555198118
|
|
NM_000317.3(PTS):c.118_121del (p.Phe40fs)
|
rs747260038
|
|
NM_000317.3(PTS):c.11A>G (p.Glu4Gly)
|
|
|
NM_000317.3(PTS):c.120T>C (p.Phe40=)
|
|
|
NM_000317.3(PTS):c.123G>A (p.Gly41=)
|
|
|
NM_000317.3(PTS):c.130A>G (p.Asn44Asp)
|
|
|
NM_000317.3(PTS):c.136C>A (p.Pro46Thr)
|
rs2135408262
|
|
NM_000317.3(PTS):c.141T>C (p.Asn47=)
|
|
|
NM_000317.3(PTS):c.146A>G (p.His49Arg)
|
rs750229518
|
|
NM_000317.3(PTS):c.147T>C (p.His49=)
|
|
|
NM_000317.3(PTS):c.148G>A (p.Gly50Arg)
|
rs922940879
|
|
NM_000317.3(PTS):c.149G>A (p.Gly50Glu)
|
rs2135408273
|
|
NM_000317.3(PTS):c.158A>C (p.Tyr53Ser)
|
rs2135408283
|
|
NM_000317.3(PTS):c.159T>C (p.Tyr53=)
|
rs781197929
|
|
NM_000317.3(PTS):c.159T>G (p.Tyr53Ter)
|
rs781197929
|
|
NM_000317.3(PTS):c.163+14_163+15inv
|
|
|
NM_000317.3(PTS):c.163+17T>C
|
|
|
NM_000317.3(PTS):c.163+1G>T
|
rs2135408292
|
|
NM_000317.3(PTS):c.163+696_163+750del
|
rs1555198165
|
|
NM_000317.3(PTS):c.164-10C>G
|
|
|
NM_000317.3(PTS):c.164-2A>G
|
rs1555198233
|
|
NM_000317.3(PTS):c.164-37dup
|
|
|
NM_000317.3(PTS):c.164-4A>G
|
|
|
NM_000317.3(PTS):c.164-4A>T
|
rs780741396
|
|
NM_000317.3(PTS):c.164-716A>T
|
rs1859903893
|
|
NM_000317.3(PTS):c.164-7T>A
|
rs1555198232
|
|
NM_000317.3(PTS):c.164-7T>C
|
rs1555198232
|
|
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.177A>G (p.Val59=)
|
|
|
NM_000317.3(PTS):c.180T>C (p.His60=)
|
rs1859913195
|
|
NM_000317.3(PTS):c.186+14A>G
|
|
|
NM_000317.3(PTS):c.186+16A>G
|
|
|
NM_000317.3(PTS):c.186+17T>G
|
|
|
NM_000317.3(PTS):c.186+18T>A
|
|
|
NM_000317.3(PTS):c.186+18T>C
|
|
|
NM_000317.3(PTS):c.186+19T>C
|
|
|
NM_000317.3(PTS):c.186+19del
|
|
|
NM_000317.3(PTS):c.186+1G>A
|
|
|
NM_000317.3(PTS):c.186+20G>C
|
|
|
NM_000317.3(PTS):c.186+7G>A
|
|
|
NM_000317.3(PTS):c.186+7G>T
|
rs2135408985
|
|
NM_000317.3(PTS):c.186G>A (p.Glu62=)
|
rs189051075
|
|
NM_000317.3(PTS):c.187-10T>A
|
|
|
NM_000317.3(PTS):c.187-2A>G
|
rs2135409169
|
|
NM_000317.3(PTS):c.187-8T>C
|
|
|
NM_000317.3(PTS):c.189dup (p.Asp64Ter)
|
|
|
NM_000317.3(PTS):c.193C>T (p.Pro65Ser)
|
|
|
NM_000317.3(PTS):c.196G>A (p.Ala66Thr)
|
|
|
NM_000317.3(PTS):c.1A>G (p.Met1Val)
|
rs2135407146
|
|
NM_000317.3(PTS):c.200C>A (p.Thr67Lys)
|
rs370340361
|
|
NM_000317.3(PTS):c.208del (p.Val70fs)
|
|
|
NM_000317.3(PTS):c.209T>A (p.Val70Asp)
|
rs1592880489
|
|
NM_000317.3(PTS):c.21C>T (p.Gly7=)
|
rs2135407159
|
|
NM_000317.3(PTS):c.222T>A (p.Ala74=)
|
|
|
NM_000317.3(PTS):c.227_228del (p.Leu76fs)
|
rs1555198263
|
|
NM_000317.3(PTS):c.228C>A (p.Leu76=)
|
rs772713545
|
|
NM_000317.3(PTS):c.231A>G (p.Lys77=)
|
|
|
NM_000317.3(PTS):c.236_239del (p.Tyr79fs)
|
rs1399026048
|
|
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+10T>C
|
rs1859918965
|
|
NM_000317.3(PTS):c.243+10T>G
|
|
|
NM_000317.3(PTS):c.243+11G>A
|
|
|
NM_000317.3(PTS):c.243+13T>C
|
|
|
NM_000317.3(PTS):c.243+15G>T
|
|
|
NM_000317.3(PTS):c.243+1G>T
|
|
|
NM_000317.3(PTS):c.243+4A>G
|
|
|
NM_000317.3(PTS):c.243+7G>A
|
|
|
NM_000317.3(PTS):c.243+9A>G
|
rs200446631
|
|
NM_000317.3(PTS):c.243G>A (p.Glu81=)
|
rs2135409211
|
|
NM_000317.3(PTS):c.244-17C>T
|
|
|
NM_000317.3(PTS):c.244-1G>T
|
rs1555198451
|
|
NM_000317.3(PTS):c.244-4C>G
|
|
|
NM_000317.3(PTS):c.244-4C>T
|
rs759579787
|
|
NM_000317.3(PTS):c.244-8G>A
|
|
|
NM_000317.3(PTS):c.244-8G>C
|
|
|
NM_000317.3(PTS):c.244-8G>T
|
rs773715386
|
|
NM_000317.3(PTS):c.244-9T>C
|
|
|
NM_000317.3(PTS):c.245A>G (p.Glu82Gly)
|
|
|
NM_000317.3(PTS):c.248C>A (p.Ala83Glu)
|
rs775426269
|
|
NM_000317.3(PTS):c.249G>A (p.Ala83=)
|
|
|
NM_000317.3(PTS):c.24T>C (p.Arg8=)
|
|
|
NM_000317.3(PTS):c.256C>T (p.Gln86Ter)
|
|
|
NM_000317.3(PTS):c.259C>T (p.Pro87Ser)
|
rs104894276
|
|
NM_000317.3(PTS):c.261C>A (p.Pro87=)
|
|
|
NM_000317.3(PTS):c.26G>A (p.Arg9His)
|
rs1213277062
|
|
NM_000317.3(PTS):c.271A>G (p.Lys91Glu)
|
|
|
NM_000317.3(PTS):c.272A>G (p.Lys91Arg)
|
rs761285716
|
|
NM_000317.3(PTS):c.273G>A (p.Lys91=)
|
rs1318726823
|
|
NM_000317.3(PTS):c.274A>C (p.Asn92His)
|
rs1859964367
|
|
NM_000317.3(PTS):c.276T>A (p.Asn92Lys)
|
|
|
NM_000317.3(PTS):c.277C>T (p.Leu93=)
|
|
|
NM_000317.3(PTS):c.281A>G (p.Asp94Gly)
|
rs1057517811
|
|
NM_000317.3(PTS):c.291G>A (p.Val97=)
|
rs2135410310
|
|
NM_000317.3(PTS):c.292_293insATACTTTG (p.Pro98fs)
|
|
|
NM_000317.3(PTS):c.296A>G (p.Tyr99Cys)
|
rs1555198458
|
|
NM_000317.3(PTS):c.2T>G (p.Met1Arg)
|
rs1859865221
|
|
NM_000317.3(PTS):c.303A>C (p.Ala101=)
|
|
|
NM_000317.3(PTS):c.303A>G (p.Ala101=)
|
|
|
NM_000317.3(PTS):c.308T>C (p.Val103Ala)
|
rs1555198459
|
|
NM_000317.3(PTS):c.309G>A (p.Val103=)
|
|
|
NM_000317.3(PTS):c.312G>C (p.Val104=)
|
rs148185068
|
|
NM_000317.3(PTS):c.314+10A>C
|
rs2135410346
|
|
NM_000317.3(PTS):c.314+11C>T
|
|
|
NM_000317.3(PTS):c.314+14T>C
|
rs377221164
|
|
NM_000317.3(PTS):c.314+14T>G
|
|
|
NM_000317.3(PTS):c.314+1G>C
|
rs1555198462
|
|
NM_000317.3(PTS):c.314+20G>A
|
|
|
NM_000317.3(PTS):c.314+2T>C
|
rs2135410340
|
|
NM_000317.3(PTS):c.314+7G>C
|
|
|
NM_000317.3(PTS):c.314+8G>A
|
rs751944451
|
|
NM_000317.3(PTS):c.315-17G>A
|
|
|
NM_000317.3(PTS):c.315-17G>T
|
|
|
NM_000317.3(PTS):c.315-17del
|
|
|
NM_000317.3(PTS):c.315-1G>A
|
|
|
NM_000317.3(PTS):c.315-20T>C
|
rs1566817881
|
|
NM_000317.3(PTS):c.315-2A>G
|
rs1555198483
|
|
NM_000317.3(PTS):c.315-5T>C
|
rs2135410431
|
|
NM_000317.3(PTS):c.315-6T>C
|
|
|
NM_000317.3(PTS):c.315-8T>C
|
|
|
NM_000317.3(PTS):c.315-8del
|
|
|
NM_000317.3(PTS):c.315-8dup
|
|
|
NM_000317.3(PTS):c.318G>T (p.Thr106=)
|
|
|
NM_000317.3(PTS):c.322G>T (p.Glu108Ter)
|
|
|
NM_000317.3(PTS):c.326A>G (p.Asn109Ser)
|
rs1361000720
|
|
NM_000317.3(PTS):c.327T>C (p.Asn109=)
|
|
|
NM_000317.3(PTS):c.331G>A (p.Ala111Thr)
|
rs1367077861
|
|
NM_000317.3(PTS):c.333T>C (p.Ala111=)
|
rs1320913050
|
|
NM_000317.3(PTS):c.337del (p.Tyr113fs)
|
rs1555198494
|
|
NM_000317.3(PTS):c.340A>G (p.Ile114Val)
|
rs1555198495
|
|
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.356A>G (p.Gln119Arg)
|
|
|
NM_000317.3(PTS):c.364C>A (p.Leu122Ile)
|
|
|
NM_000317.3(PTS):c.369T>C (p.Pro123=)
|
|
|
NM_000317.3(PTS):c.36A>G (p.Ala12=)
|
rs2135407170
|
|
NM_000317.3(PTS):c.370G>C (p.Val124Leu)
|
|
|
NM_000317.3(PTS):c.372A>G (p.Val124=)
|
|
|
NM_000317.3(PTS):c.379C>T (p.Leu127Phe)
|
rs1859971515
|
|
NM_000317.3(PTS):c.384T>A (p.Tyr128Ter)
|
rs1859971691
|
|
NM_000317.3(PTS):c.385A>G (p.Lys129Glu)
|
|
|
NM_000317.3(PTS):c.390A>G (p.Val130=)
|
rs2135410489
|
|
NM_000317.3(PTS):c.393A>G (p.Lys131=)
|
rs2135410494
|
|
NM_000317.3(PTS):c.393del (p.Val132fs)
|
rs780332520
|
|
NM_000317.3(PTS):c.399C>A (p.Tyr133Ter)
|
rs199603175
|
|
NM_000317.3(PTS):c.399C>G (p.Tyr133Ter)
|
|
|
NM_000317.3(PTS):c.3G>T (p.Met1Ile)
|
|
|
NM_000317.3(PTS):c.400G>T (p.Glu134Ter)
|
rs779681799
|
|
NM_000317.3(PTS):c.402A>C (p.Glu134Asp)
|
rs746993982
|
|
NM_000317.3(PTS):c.405T>G (p.Thr135=)
|
rs59731976
|
|
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.420G>A (p.Val140=)
|
|
|
NM_000317.3(PTS):c.429A>C (p.Lys143Asn)
|
rs1555198513
|
|
NM_000317.3(PTS):c.438G>C (p.Ter146Tyr)
|
rs1859973316
|
|
NM_000317.3(PTS):c.47G>A (p.Arg16His)
|
|
|
NM_000317.3(PTS):c.48C>T (p.Arg16=)
|
|
|
NM_000317.3(PTS):c.54C>A (p.Ile18=)
|
rs749133827
|
|
NM_000317.3(PTS):c.57C>T (p.Ser19=)
|
rs2135407185
|
|
NM_000317.3(PTS):c.63C>T (p.Ser21=)
|
|
|
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.73C>T (p.Arg25Ter)
|
rs1167104933
|
|
NM_000317.3(PTS):c.74G>A (p.Arg25Gln)
|
rs104894273
|
|
NM_000317.3(PTS):c.75A>T (p.Arg25=)
|
|
|
NM_000317.3(PTS):c.76T>C (p.Leu26=)
|
|
|
NM_000317.3(PTS):c.83+10G>A
|
rs372809628
|
|
NM_000317.3(PTS):c.83+10G>T
|
rs372809628
|
|
NM_000317.3(PTS):c.83+11C>T
|
|
|
NM_000317.3(PTS):c.83+12A>C
|
|
|
NM_000317.3(PTS):c.83+12A>G
|
|
|
NM_000317.3(PTS):c.83+1G>A
|
rs927103678
|
|
NM_000317.3(PTS):c.83+1G>C
|
|
|
NM_000317.3(PTS):c.83+5G>A
|
|
|
NM_000317.3(PTS):c.83+5G>T
|
|
|
NM_000317.3(PTS):c.83+9T>C
|
|
|
NM_000317.3(PTS):c.83+9T>G
|
rs2135407218
|
|
NM_000317.3(PTS):c.84-10T>A
|
|
|
NM_000317.3(PTS):c.84-18T>C
|
|
|
NM_000317.3(PTS):c.84-1G>A
|
|
|
NM_000317.3(PTS):c.84-2A>G
|
|
|
NM_000317.3(PTS):c.84-323A>T
|
rs794726657
|
|
NM_000317.3(PTS):c.84-4T>G
|
|
|
NM_000317.3(PTS):c.84-5G>A
|
rs61900919
|
|
NM_000317.3(PTS):c.84-5G>C
|
|
|
NM_000317.3(PTS):c.84-5G>T
|
rs61900919
|
|
NM_000317.3(PTS):c.84-5del
|
rs750461383
|
|
NM_000317.3(PTS):c.84-6G>T
|
rs778736284
|
|
NM_000317.3(PTS):c.84-8T>C
|
|
|
NM_000317.3(PTS):c.85A>T (p.Lys29Ter)
|
|
|
NM_000317.3(PTS):c.9G>A (p.Thr3=)
|
rs1460470110
|
|
NM_000320.3(QDPR):c.421del (p.Leu141fs)
|
rs1577191558
|
|