NM_000187.4(HGD):c.1102A>G (p.Met368Val)
|
rs120074173
|
0.00031
|
NM_000187.4(HGD):c.481G>A (p.Gly161Arg)
|
rs28941783
|
0.00016
|
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.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.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.291G>A (p.Trp97Ter)
|
rs766714128
|
0.00001
|
NM_000187.4(HGD):c.674G>A (p.Arg225His)
|
rs562853291
|
0.00001
|
NC_000003.11:g.(?_120365818)_(133465047_?)del
|
|
|
NC_000003.12:g.(?_120633127)_(120633348_?)del
|
|
|
NC_000003.12:g.(?_120647857)_(120647931_?)del
|
|
|
NM_000187.3(HGD):c.651_652delGG
|
rs786204662
|
|
NM_000187.4(HGD):c.1006+2T>A
|
rs1320184173
|
|
NM_000187.4(HGD):c.100del (p.Val34fs)
|
|
|
NM_000187.4(HGD):c.1039C>T (p.Arg347Ter)
|
rs975005146
|
|
NM_000187.4(HGD):c.105C>A (p.Cys35Ter)
|
|
|
NM_000187.4(HGD):c.1111del (p.His371fs)
|
rs397515516
|
|
NM_000187.4(HGD):c.1112dup (p.His371fs)
|
|
|
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.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.1288del (p.Leu430fs)
|
rs2107483632
|
|
NM_000187.4(HGD):c.133del (p.Ser45fs)
|
|
|
NM_000187.4(HGD):c.175del (p.Ser59fs)
|
rs397515517
|
|
NM_000187.4(HGD):c.179G>A (p.Trp60Ter)
|
rs1057516467
|
|
NM_000187.4(HGD):c.186T>G (p.Tyr62Ter)
|
rs2107548853
|
|
NM_000187.4(HGD):c.237_240del (p.Gln80fs)
|
|
|
NM_000187.4(HGD):c.255G>A (p.Trp85Ter)
|
|
|
NM_000187.4(HGD):c.342+3A>C
|
|
|
NM_000187.4(HGD):c.360T>G (p.Cys120Trp)
|
rs149165166
|
|
NM_000187.4(HGD):c.378del (p.Lys126fs)
|
|
|
NM_000187.4(HGD):c.398del (p.Ile133fs)
|
|
|
NM_000187.4(HGD):c.3G>C (p.Met1Ile)
|
rs1057516355
|
|
NM_000187.4(HGD):c.413_434+35del
|
|
|
NM_000187.4(HGD):c.434+1del
|
|
|
NM_000187.4(HGD):c.448del (p.Ser150fs)
|
|
|
NM_000187.4(HGD):c.457dup (p.Asp153fs)
|
rs397515346
|
|
NM_000187.4(HGD):c.469+1G>C
|
rs1260545974
|
|
NM_000187.4(HGD):c.502G>T (p.Glu168Ter)
|
rs375283568
|
|
NM_000187.4(HGD):c.549+1G>T
|
|
|
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.650-13T>G
|
|
|
NM_000187.4(HGD):c.652del
|
rs786204662
|
|
NM_000187.4(HGD):c.673del (p.Arg225fs)
|
|
|
NM_000187.4(HGD):c.680T>C (p.Phe227Ser)
|
rs1941093400
|
|
NM_000187.4(HGD):c.699G>A (p.Trp233Ter)
|
|
|
NM_000187.4(HGD):c.702T>G (p.Tyr234Ter)
|
|
|
NM_000187.4(HGD):c.87+1G>A
|
|
|
NM_000187.4(HGD):c.899T>G (p.Val300Gly)
|
rs120074170
|
|
NM_000187.4(HGD):c.961C>T (p.Arg321Ter)
|
|
|
NM_000187.4(HGD):c.970dup (p.Val324fs)
|
rs34214309
|
|