NM_000130.5(F5):c.1601= (p.Arg534=)
|
rs6025
|
0.98238
|
NM_000130.4(F5):c.1601G>A (p.Arg534Gln)
|
rs6025
|
0.01762
|
NM_000130.5(F5):c.1000A>G (p.Arg334Gly)
|
rs118203905
|
0.00021
|
NM_000130.5(F5):c.1001G>C (p.Arg334Thr)
|
rs118203906
|
0.00007
|
NM_000130.5(F5):c.2862del (p.Ser955fs)
|
rs765982916
|
0.00004
|
NM_000130.5(F5):c.4699_4702dup (p.Ala1568fs)
|
rs773569662
|
0.00003
|
NM_000130.5(F5):c.1600C>T (p.Arg534Ter)
|
rs770011773
|
0.00001
|
NM_000130.5(F5):c.3481C>T (p.Arg1161Ter)
|
rs118203909
|
0.00001
|
NM_000130.5(F5):c.5189A>G (p.Tyr1730Cys)
|
rs118203907
|
0.00001
|
NM_000130.5(F5):c.5365C>T (p.Arg1789Ter)
|
rs201790842
|
0.00001
|
NM_000130.5(F5):c.6304C>T (p.Arg2102Cys)
|
rs118203910
|
0.00001
|
NM_000130.4(F5):c.5392G>A (p.Glu1798Lys)
|
rs386834227
|
|
NM_000130.4(F5):c.5668G>A (p.Glu1890Lys)
|
rs386834228
|
|
NM_000130.5(F5):c.1042_1049del (p.Lys348fs)
|
rs2101829195
|
|
NM_000130.5(F5):c.1160T>C (p.Ile387Thr)
|
rs118203911
|
|
NM_000130.5(F5):c.1258G>T (p.Gly420Cys)
|
|
|
NM_000130.5(F5):c.155C>G (p.Ser52Ter)
|
|
|
NM_000130.5(F5):c.1830_1831dup (p.His611fs)
|
rs1571577365
|
|
NM_000130.5(F5):c.2021del (p.Lys674fs)
|
|
|
NM_000130.5(F5):c.2218C>T (p.Arg740Ter)
|
rs757953549
|
|
NM_000130.5(F5):c.2228C>A (p.Ser743Ter)
|
|
|
NM_000130.5(F5):c.2401C>T (p.Gln801Ter)
|
rs118203908
|
|
NM_000130.5(F5):c.2521C>T (p.Gln841Ter)
|
|
|
NM_000130.5(F5):c.2521del (p.Gln841fs)
|
|
|
NM_000130.5(F5):c.2539del (p.Ile847fs)
|
rs1571575520
|
|
NM_000130.5(F5):c.2615del (p.Arg872fs)
|
rs2101819850
|
|
NM_000130.5(F5):c.2743_2744del (p.Thr915fs)
|
|
|
NM_000130.5(F5):c.2780del (p.Pro927fs)
|
|
|
NM_000130.5(F5):c.286G>C (p.Asp96His)
|
|
|
NM_000130.5(F5):c.2946G>A (p.Trp982Ter)
|
|
|
NM_000130.5(F5):c.3088C>T (p.Arg1030Ter)
|
|
|
NM_000130.5(F5):c.3187dup (p.Arg1063fs)
|
rs386834226
|
|
NM_000130.5(F5):c.3322del (p.Thr1108fs)
|
|
|
NM_000130.5(F5):c.3532G>T (p.Glu1178Ter)
|
|
|
NM_000130.5(F5):c.3646G>T (p.Glu1216Ter)
|
|
|
NM_000130.5(F5):c.3799del (p.Leu1267fs)
|
|
|
NM_000130.5(F5):c.3924_3927del (p.Ser1308fs)
|
rs2101818393
|
|
NM_000130.5(F5):c.4083dup (p.Ser1362fs)
|
|
|
NM_000130.5(F5):c.4096del (p.Leu1366fs)
|
rs1659825695
|
|
NM_000130.5(F5):c.4317_4318del (p.Pro1440fs)
|
|
|
NM_000130.5(F5):c.436C>T (p.Arg146Ter)
|
|
|
NM_000130.5(F5):c.439G>T (p.Glu147Ter)
|
rs118203912
|
|
NM_000130.5(F5):c.4465C>T (p.Gln1489Ter)
|
|
|
NM_000130.5(F5):c.4647dup (p.Tyr1550fs)
|
|
|
NM_000130.5(F5):c.4705_4706delinsTA (p.Ala1569Ter)
|
|
|
NM_000130.5(F5):c.4861C>T (p.Arg1621Ter)
|
|
|
NM_000130.5(F5):c.4900C>T (p.Arg1634Ter)
|
|
|
NM_000130.5(F5):c.5037dup (p.Ser1680fs)
|
rs754982088
|
|
NM_000130.5(F5):c.5143C>T (p.Arg1715Ter)
|
|
|
NM_000130.5(F5):c.5261del (p.Gly1754fs)
|
|
|
NM_000130.5(F5):c.5403_5404insG (p.Ser1802fs)
|
rs2101810760
|
|
NM_000130.5(F5):c.5403del (p.Lys1801fs)
|
|
|
NM_000130.5(F5):c.5403dup (p.Ser1802fs)
|
rs757917115
|
|
NM_000130.5(F5):c.5453del (p.Leu1818fs)
|
|
|
NM_000130.5(F5):c.5645G>A (p.Trp1882Ter)
|
|
|
NM_000130.5(F5):c.5793C>G (p.Tyr1931Ter)
|
|
|
NM_000130.5(F5):c.597_598del (p.Glu200fs)
|
|
|
NM_000130.5(F5):c.653T>C (p.Phe218Ser)
|
|
|
NM_000130.5(F5):c.987C>A (p.Cys329Ter)
|
|
|