NM_000187.4(HGD):c.1221G>A (p.Ala407=)
|
rs146206905
|
0.01639
|
NM_000187.4(HGD):c.1102A>G (p.Met368Val)
|
rs120074173
|
0.00031
|
NM_000187.4(HGD):c.221A>T (p.Glu74Val)
|
rs141965690
|
0.00027
|
NM_000187.4(HGD):c.8A>C (p.Glu3Ala)
|
rs200412910
|
0.00022
|
NM_000187.4(HGD):c.481G>A (p.Gly161Arg)
|
rs28941783
|
0.00016
|
NM_000187.4(HGD):c.1112A>G (p.His371Arg)
|
rs120074172
|
0.00012
|
NM_000187.4(HGD):c.752G>A (p.Gly251Asp)
|
rs781011621
|
0.00011
|
NM_000187.4(HGD):c.125A>C (p.Glu42Ala)
|
rs373921680
|
0.00007
|
NM_000187.4(HGD):c.158G>A (p.Arg53Gln)
|
rs200808744
|
0.00006
|
NM_000187.4(HGD):c.365C>T (p.Ala122Val)
|
rs544956641
|
0.00006
|
NM_000187.4(HGD):c.808G>A (p.Gly270Arg)
|
rs120074174
|
0.00006
|
NM_000187.4(HGD):c.16-1G>A
|
rs397515347
|
0.00004
|
NM_000187.4(HGD):c.347T>C (p.Leu116Pro)
|
rs569846003
|
0.00004
|
NM_000187.4(HGD):c.359G>T (p.Cys120Phe)
|
rs752153829
|
0.00004
|
NM_000187.4(HGD):c.502G>A (p.Glu168Lys)
|
rs375283568
|
0.00004
|
NM_000187.4(HGD):c.688C>T (p.Pro230Ser)
|
rs28942100
|
0.00003
|
NM_000187.4(HGD):c.709C>T (p.Arg237Cys)
|
rs1171237852
|
0.00003
|
NM_000187.4(HGD):c.990G>T (p.Arg330Ser)
|
rs120074171
|
0.00003
|
NM_000187.4(HGD):c.1336T>C (p.Ter446Arg)
|
rs143370662
|
0.00002
|
NM_000187.4(HGD):c.342+1G>T
|
rs397515518
|
0.00002
|
NM_000187.4(HGD):c.367G>A (p.Gly123Arg)
|
rs564979861
|
0.00002
|
NM_000187.4(HGD):c.469+2T>C
|
rs745333667
|
0.00002
|
NM_000187.4(HGD):c.1007-2A>T
|
rs1559781702
|
0.00001
|
NM_000187.4(HGD):c.1078G>C (p.Gly360Arg)
|
rs368717991
|
0.00001
|
NM_000187.4(HGD):c.1188+1G>A
|
rs760206323
|
0.00001
|
NM_000187.4(HGD):c.11T>A (p.Leu4Ter)
|
rs786204422
|
0.00001
|
NM_000187.4(HGD):c.157C>T (p.Arg53Trp)
|
rs759435977
|
0.00001
|
NM_000187.4(HGD):c.291G>A (p.Trp97Ter)
|
rs766714128
|
0.00001
|
NM_000187.4(HGD):c.343G>C (p.Gly115Arg)
|
rs755734596
|
0.00001
|
NM_000187.4(HGD):c.473C>T (p.Pro158Leu)
|
rs375396766
|
0.00001
|
NM_000187.4(HGD):c.536T>G (p.Ile179Ser)
|
rs1031569954
|
0.00001
|
NM_000187.4(HGD):c.673C>T (p.Arg225Cys)
|
rs756789146
|
0.00001
|
NM_000187.4(HGD):c.674G>A (p.Arg225His)
|
rs562853291
|
0.00001
|
NM_000187.4(HGD):c.821C>T (p.Pro274Leu)
|
rs1397264922
|
0.00001
|
NC_000003.11:g.(?_120365818)_(133465047_?)del
|
|
|
NC_000003.12:g.(?_120633127)_(120633348_?)del
|
|
|
NC_000003.12:g.(?_120647857)_(120647931_?)del
|
|
|
NC_000003.12:g.120655369_120682240del
|
|
|
NM_000187.3(HGD):c.651_652delGG
|
rs786204662
|
|
NM_000187.4(HGD):c.1006+2T>A
|
rs1320184173
|
|
NM_000187.4(HGD):c.1006+6T>C
|
|
|
NM_000187.4(HGD):c.1007-1709_1188+1121del
|
|
|
NM_000187.4(HGD):c.1007G>A (p.Arg336Lys)
|
|
|
NM_000187.4(HGD):c.1007G>C (p.Arg336Thr)
|
|
|
NM_000187.4(HGD):c.1008dup
|
|
|
NM_000187.4(HGD):c.1009A>G (p.Asn337Asp)
|
|
|
NM_000187.4(HGD):c.100del (p.Val34fs)
|
|
|
NM_000187.4(HGD):c.1016del (p.Met339fs)
|
|
|
NM_000187.4(HGD):c.1017_1019delinsTA (p.Met339fs)
|
rs1057517081
|
|
NM_000187.4(HGD):c.1019G>T (p.Ser340Ile)
|
|
|
NM_000187.4(HGD):c.1031del (p.Gly344fs)
|
rs1295089623
|
|
NM_000187.4(HGD):c.1034T>G (p.Leu345Arg)
|
|
|
NM_000187.4(HGD):c.1037T>C (p.Ile346Thr)
|
|
|
NM_000187.4(HGD):c.1039C>T (p.Arg347Ter)
|
rs975005146
|
|
NM_000187.4(HGD):c.1040G>C (p.Arg347Pro)
|
|
|
NM_000187.4(HGD):c.1049A>G (p.Tyr350Cys)
|
|
|
NM_000187.4(HGD):c.1057A>C (p.Lys353Gln)
|
|
|
NM_000187.4(HGD):c.105C>A (p.Cys35Ter)
|
|
|
NM_000187.4(HGD):c.1060C>T (p.Gln354Ter)
|
|
|
NM_000187.4(HGD):c.1075C>T (p.Pro359Ser)
|
|
|
NM_000187.4(HGD):c.1079G>C (p.Gly360Ala)
|
|
|
NM_000187.4(HGD):c.1081G>A (p.Gly361Arg)
|
rs765219004
|
|
NM_000187.4(HGD):c.1085G>A (p.Gly362Glu)
|
|
|
NM_000187.4(HGD):c.1095_1100dup (p.Thr367_Met368insSerThr)
|
|
|
NM_000187.4(HGD):c.1111del (p.His371fs)
|
rs397515516
|
|
NM_000187.4(HGD):c.1111dup (p.His371fs)
|
rs397515516
|
|
NM_000187.4(HGD):c.1112dup (p.His371fs)
|
|
|
NM_000187.4(HGD):c.1114G>A (p.Gly372Arg)
|
rs1940645842
|
|
NM_000187.4(HGD):c.1115_1117del (p.Gly372_Pro373delinsAla)
|
|
|
NM_000187.4(HGD):c.1118C>T (p.Pro373Leu)
|
|
|
NM_000187.4(HGD):c.1120G>C (p.Asp374His)
|
rs981454067
|
|
NM_000187.4(HGD):c.1131C>A (p.Cys377Ter)
|
|
|
NM_000187.4(HGD):c.1157_1160del (p.Leu386fs)
|
|
|
NM_000187.4(HGD):c.1185del (p.Met396fs)
|
rs2107489196
|
|
NM_000187.4(HGD):c.1188+1G>T
|
rs760206323
|
|
NM_000187.4(HGD):c.1188+2T>A
|
|
|
NM_000187.4(HGD):c.1188+8T>A
|
|
|
NM_000187.4(HGD):c.1189-41_1248del
|
|
|
NM_000187.4(HGD):c.119A>C (p.Tyr40Ser)
|
|
|
NM_000187.4(HGD):c.11T>C (p.Leu4Ser)
|
rs786204422
|
|
NM_000187.4(HGD):c.1201G>C (p.Glu401Gln)
|
rs767159114
|
|
NM_000187.4(HGD):c.1245del (p.Ser416fs)
|
rs2107483736
|
|
NM_000187.4(HGD):c.1269C>A (p.Tyr423Ter)
|
rs1186509068
|
|
NM_000187.4(HGD):c.127C>G (p.Gln43Glu)
|
rs1243059404
|
|
NM_000187.4(HGD):c.1288del (p.Leu430fs)
|
rs2107483632
|
|
NM_000187.4(HGD):c.1290_1300del (p.Lys431fs)
|
rs1553715351
|
|
NM_000187.4(HGD):c.130C>T (p.Leu44Phe)
|
|
|
NM_000187.4(HGD):c.131T>C (p.Leu44Pro)
|
rs1708095030
|
|
NM_000187.4(HGD):c.133del (p.Ser45fs)
|
|
|
NM_000187.4(HGD):c.140C>T (p.Ser47Leu)
|
rs369517993
|
|
NM_000187.4(HGD):c.15G>A (p.Lys5=)
|
|
|
NM_000187.4(HGD):c.16-272_87+305del
|
rs1553721650
|
|
NM_000187.4(HGD):c.171G>C (p.Lys57Asn)
|
|
|
NM_000187.4(HGD):c.174A>T (p.Arg58Ser)
|
|
|
NM_000187.4(HGD):c.175del (p.Ser59fs)
|
rs397515517
|
|
NM_000187.4(HGD):c.177-2A>G
|
|
|
NM_000187.4(HGD):c.178T>G (p.Trp60Gly)
|
|
|
NM_000187.4(HGD):c.179G>A (p.Trp60Ter)
|
rs1057516467
|
|
NM_000187.4(HGD):c.180G>A (p.Trp60Ter)
|
|
|
NM_000187.4(HGD):c.182T>C (p.Leu61Pro)
|
|
|
NM_000187.4(HGD):c.184T>A (p.Tyr62Asn)
|
|
|
NM_000187.4(HGD):c.184_187dup (p.Arg63delinsIleTer)
|
|
|
NM_000187.4(HGD):c.185A>G (p.Tyr62Cys)
|
|
|
NM_000187.4(HGD):c.186T>G (p.Tyr62Ter)
|
rs2107548853
|
|
NM_000187.4(HGD):c.189G>A (p.Arg63=)
|
|
|
NM_000187.4(HGD):c.189G>T (p.Arg63Ser)
|
rs1390061303
|
|
NM_000187.4(HGD):c.1A>G (p.Met1Val)
|
rs1708240463
|
|
NM_000187.4(HGD):c.217T>C (p.Phe73Leu)
|
|
|
NM_000187.4(HGD):c.237_240del (p.Gln80fs)
|
|
|
NM_000187.4(HGD):c.255G>A (p.Trp85Ter)
|
|
|
NM_000187.4(HGD):c.274C>A (p.Pro92Thr)
|
|
|
NM_000187.4(HGD):c.289T>C (p.Trp97Arg)
|
|
|
NM_000187.4(HGD):c.289T>G (p.Trp97Gly)
|
|
|
NM_000187.4(HGD):c.291G>C (p.Trp97Cys)
|
|
|
NM_000187.4(HGD):c.299T>C (p.Phe100Ser)
|
|
|
NM_000187.4(HGD):c.31_32delinsATT (p.Gly11fs)
|
rs1057516362
|
|
NM_000187.4(HGD):c.334T>G (p.Phe112Val)
|
|
|
NM_000187.4(HGD):c.335T>C (p.Phe112Ser)
|
|
|
NM_000187.4(HGD):c.342+1G>A
|
rs397515518
|
|
NM_000187.4(HGD):c.342+3A>C
|
|
|
NM_000187.4(HGD):c.357dup (p.Cys120fs)
|
|
|
NM_000187.4(HGD):c.360T>G (p.Cys120Trp)
|
rs149165166
|
|
NM_000187.4(HGD):c.362G>A (p.Gly121Glu)
|
|
|
NM_000187.4(HGD):c.365C>A (p.Ala122Asp)
|
|
|
NM_000187.4(HGD):c.368G>C (p.Gly123Ala)
|
|
|
NM_000187.4(HGD):c.376_377del (p.Lys126fs)
|
rs1057516976
|
|
NM_000187.4(HGD):c.378del (p.Lys126fs)
|
|
|
NM_000187.4(HGD):c.37G>A (p.Glu13Lys)
|
|
|
NM_000187.4(HGD):c.398del (p.Ile133fs)
|
|
|
NM_000187.4(HGD):c.3G>C (p.Met1Ile)
|
rs1057516355
|
|
NM_000187.4(HGD):c.407T>A (p.Phe136Tyr)
|
|
|
NM_000187.4(HGD):c.410T>C (p.Leu137Pro)
|
|
|
NM_000187.4(HGD):c.413_434+35del
|
|
|
NM_000187.4(HGD):c.433A>T (p.Arg145Ter)
|
|
|
NM_000187.4(HGD):c.434+1del
|
|
|
NM_000187.4(HGD):c.440T>C (p.Phe147Ser)
|
|
|
NM_000187.4(HGD):c.447T>A (p.Asn149Lys)
|
rs2107513499
|
|
NM_000187.4(HGD):c.448del (p.Ser150fs)
|
|
|
NM_000187.4(HGD):c.449C>T (p.Ser150Leu)
|
|
|
NM_000187.4(HGD):c.454G>A (p.Gly152Arg)
|
|
|
NM_000187.4(HGD):c.455G>C (p.Gly152Ala)
|
rs1553717936
|
|
NM_000187.4(HGD):c.457G>A (p.Asp153Asn)
|
|
|
NM_000187.4(HGD):c.457dup (p.Asp153fs)
|
rs397515346
|
|
NM_000187.4(HGD):c.458A>G (p.Asp153Gly)
|
|
|
NM_000187.4(HGD):c.469+1G>C
|
rs1260545974
|
|
NM_000187.4(HGD):c.469+5G>A
|
|
|
NM_000187.4(HGD):c.469+6T>C
|
|
|
NM_000187.4(HGD):c.469G>T (p.Val157Phe)
|
|
|
NM_000187.4(HGD):c.470-1G>A
|
|
|
NM_000187.4(HGD):c.470-1_470insA
|
|
|
NM_000187.4(HGD):c.472_496del (p.Pro158fs)
|
|
|
NM_000187.4(HGD):c.473C>G (p.Pro158Arg)
|
|
|
NM_000187.4(HGD):c.500C>T (p.Thr167Ile)
|
|
|
NM_000187.4(HGD):c.502G>T (p.Glu168Ter)
|
rs375283568
|
|
NM_000187.4(HGD):c.504G>C (p.Glu168Asp)
|
|
|
NM_000187.4(HGD):c.507T>C (p.Phe169=)
|
|
|
NM_000187.4(HGD):c.508G>A (p.Gly170Ser)
|
|
|
NM_000187.4(HGD):c.509G>C (p.Gly170Ala)
|
|
|
NM_000187.4(HGD):c.513G>T (p.Lys171Asn)
|
|
|
NM_000187.4(HGD):c.515T>C (p.Met172Thr)
|
|
|
NM_000187.4(HGD):c.52G>A (p.Asp18Asn)
|
|
|
NM_000187.4(HGD):c.52G>T (p.Asp18Tyr)
|
|
|
NM_000187.4(HGD):c.533A>G (p.Glu178Gly)
|
|
|
NM_000187.4(HGD):c.541G>T (p.Val181Phe)
|
|
|
NM_000187.4(HGD):c.549+1G>A
|
|
|
NM_000187.4(HGD):c.549+1G>T
|
|
|
NM_000187.4(HGD):c.549G>T (p.Gln183His)
|
|
|
NM_000187.4(HGD):c.54T>A (p.Asp18Glu)
|
|
|
NM_000187.4(HGD):c.550-2A>C
|
|
|
NM_000187.4(HGD):c.550-2A>G
|
|
|
NM_000187.4(HGD):c.553G>A (p.Gly185Arg)
|
|
|
NM_000187.4(HGD):c.557T>A (p.Met186Lys)
|
|
|
NM_000187.4(HGD):c.559C>G (p.Arg187Gly)
|
rs756255206
|
|
NM_000187.4(HGD):c.566G>T (p.Ser189Ile)
|
rs2107510544
|
|
NM_000187.4(HGD):c.583G>T (p.Glu195Ter)
|
rs1184695718
|
|
NM_000187.4(HGD):c.588_597del (p.Arg197fs)
|
|
|
NM_000187.4(HGD):c.588del (p.Arg197fs)
|
|
|
NM_000187.4(HGD):c.589A>G (p.Arg197Gly)
|
|
|
NM_000187.4(HGD):c.593G>A (p.Gly198Asp)
|
|
|
NM_000187.4(HGD):c.614G>A (p.Gly205Asp)
|
|
|
NM_000187.4(HGD):c.614G>T (p.Gly205Val)
|
|
|
NM_000187.4(HGD):c.647T>C (p.Ile216Thr)
|
|
|
NM_000187.4(HGD):c.649+1G>A
|
|
|
NM_000187.4(HGD):c.649+2T>C
|
rs1057516307
|
|
NM_000187.4(HGD):c.649+39T>G
|
|
|
NM_000187.4(HGD):c.649G>T (p.Gly217Trp)
|
|
|
NM_000187.4(HGD):c.650-13T>G
|
|
|
NM_000187.4(HGD):c.650-17G>A
|
|
|
NM_000187.4(HGD):c.650-56G>A
|
|
|
NM_000187.4(HGD):c.652del
|
rs786204662
|
|
NM_000187.4(HGD):c.656A>G (p.Asn219Ser)
|
|
|
NM_000187.4(HGD):c.656_657insAATCAA (p.Ala218_Asn219insLysIle)
|
|
|
NM_000187.4(HGD):c.659G>T (p.Gly220Val)
|
|
|
NM_000187.4(HGD):c.664_674dup (p.Asp226fs)
|
|
|
NM_000187.4(HGD):c.665C>A (p.Ala222Asp)
|
rs1576294110
|
|
NM_000187.4(HGD):c.673del (p.Arg225fs)
|
|
|
NM_000187.4(HGD):c.674G>C (p.Arg225Pro)
|
|
|
NM_000187.4(HGD):c.674G>T (p.Arg225Leu)
|
|
|
NM_000187.4(HGD):c.679T>C (p.Phe227Leu)
|
|
|
NM_000187.4(HGD):c.680T>C (p.Phe227Ser)
|
rs1941093400
|
|
NM_000187.4(HGD):c.688C>A (p.Pro230Thr)
|
|
|
NM_000187.4(HGD):c.699G>A (p.Trp233Ter)
|
|
|
NM_000187.4(HGD):c.702T>G (p.Tyr234Ter)
|
|
|
NM_000187.4(HGD):c.733G>T (p.Val245Phe)
|
|
|
NM_000187.4(HGD):c.742A>G (p.Lys248Glu)
|
|
|
NM_000187.4(HGD):c.74T>C (p.Leu25Pro)
|
|
|
NM_000187.4(HGD):c.753C>T (p.Gly251=)
|
rs1357020990
|
|
NM_000187.4(HGD):c.773A>C (p.Gln258Pro)
|
|
|
NM_000187.4(HGD):c.774+1G>T
|
|
|
NM_000187.4(HGD):c.775-16T>A
|
|
|
NM_000187.4(HGD):c.787T>C (p.Phe263Leu)
|
|
|
NM_000187.4(HGD):c.791A>G (p.Asn264Ser)
|
|
|
NM_000187.4(HGD):c.800C>T (p.Ala267Val)
|
|
|
NM_000187.4(HGD):c.806A>G (p.His269Arg)
|
|
|
NM_000187.4(HGD):c.815A>G (p.Tyr272Cys)
|
|
|
NM_000187.4(HGD):c.828G>C (p.Lys276Asn)
|
|
|
NM_000187.4(HGD):c.85del (p.Gln29fs)
|
|
|
NM_000187.4(HGD):c.860C>A (p.Ser287Ter)
|
|
|
NM_000187.4(HGD):c.87+1G>A
|
|
|
NM_000187.4(HGD):c.87+8_88-31del
|
|
|
NM_000187.4(HGD):c.873C>A (p.Asp291Glu)
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NM_000187.4(HGD):c.875A>G (p.His292Arg)
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NM_000187.4(HGD):c.899T>G (p.Val300Gly)
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rs120074170
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NM_000187.4(HGD):c.914C>T (p.Ser305Phe)
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NM_000187.4(HGD):c.926G>T (p.Gly309Val)
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NM_000187.4(HGD):c.946G>A (p.Val316Ile)
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NM_000187.4(HGD):c.961C>T (p.Arg321Ter)
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NM_000187.4(HGD):c.962G>A (p.Arg321Gln)
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NM_000187.4(HGD):c.964T>C (p.Trp322Arg)
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NM_000187.4(HGD):c.970dup (p.Val324fs)
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rs34214309
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NM_000187.4(HGD):c.986T>G (p.Phe329Cys)
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NM_000187.4(HGD):c.98A>G (p.Gln33Arg)
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NM_000187.4(HGD):c.990G>C (p.Arg330Ser)
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NM_000187.4(HGD):c.995C>G (p.Pro332Arg)
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NM_000187.4:c.283-9199_434+1688del
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