NM_005609.4(PYGM):c.645G>A (p.Lys215=)
|
rs116315896
|
0.00530
|
NM_005609.4(PYGM):c.1537A>G (p.Ile513Val)
|
rs139570786
|
0.00232
|
NM_005609.4(PYGM):c.148C>T (p.Arg50Ter)
|
rs116987552
|
0.00181
|
NM_005609.4(PYGM):c.660G>A (p.Gln220=)
|
rs142234258
|
0.00161
|
NM_005609.4(PYGM):c.2286T>G (p.Ile762Met)
|
rs75685607
|
0.00126
|
NM_005609.4(PYGM):c.1094C>T (p.Ala365Val)
|
rs116135678
|
0.00074
|
NM_005609.4(PYGM):c.160T>G (p.Phe54Val)
|
rs148839812
|
0.00046
|
NM_005609.4(PYGM):c.613G>A (p.Gly205Ser)
|
rs119103251
|
0.00027
|
NM_005609.4(PYGM):c.1805G>A (p.Arg602Gln)
|
rs373190458
|
0.00009
|
NM_005609.4(PYGM):c.425-26A>G
|
rs764313717
|
0.00009
|
NM_005609.4(PYGM):c.877C>T (p.Arg293Trp)
|
rs558267822
|
0.00009
|
NM_005609.4(PYGM):c.2143C>T (p.Arg715Trp)
|
rs780656375
|
0.00003
|
NM_005609.4(PYGM):c.2352C>A (p.Cys784Ter)
|
rs1057517001
|
0.00003
|
NM_005609.4(PYGM):c.1804C>T (p.Arg602Trp)
|
rs750195683
|
0.00002
|
NM_005609.4(PYGM):c.1147G>A (p.Glu383Lys)
|
rs757681143
|
0.00001
|
NM_005609.4(PYGM):c.1349C>T (p.Ser450Leu)
|
rs756251887
|
0.00001
|
NM_005609.4(PYGM):c.1708C>T (p.Arg570Trp)
|
rs377225525
|
0.00001
|
NM_005609.4(PYGM):c.1963G>A (p.Glu655Lys)
|
rs119103253
|
0.00001
|
NM_005609.4(PYGM):c.475G>A (p.Gly159Arg)
|
rs760654579
|
0.00001
|
NM_005609.4(PYGM):c.723C>T (p.Thr241=)
|
rs772848708
|
0.00001
|
NC_000011.9:g.(?_64513860)_(64514831_64517847)del
|
|
|
NM_005609.4(PYGM):c.1044_1050dup (p.Met351fs)
|
|
|
NM_005609.4(PYGM):c.1058T>A (p.Ile353Asn)
|
|
|
NM_005609.4(PYGM):c.1463C>T (p.Thr488Ile)
|
rs1555134900
|
|
NM_005609.4(PYGM):c.1624A>G (p.Asn542Asp)
|
rs2135830822
|
|
NM_005609.4(PYGM):c.1797del (p.Phe599fs)
|
rs769960481
|
|
NM_005609.4(PYGM):c.181C>T (p.Arg61Cys)
|
rs1413461008
|
|
NM_005609.4(PYGM):c.198del (p.Arg67fs)
|
rs750857876
|
|
NM_005609.4(PYGM):c.2038A>G (p.Met680Val)
|
|
|
NM_005609.4(PYGM):c.2125TTC[1] (p.Phe710del)
|
rs527236147
|
|
NM_005609.4(PYGM):c.21_28dup (p.Lys10fs)
|
rs770037766
|
|
NM_005609.4(PYGM):c.225C>A (p.Tyr75Ter)
|
rs773361937
|
|
NM_005609.4(PYGM):c.2262del (p.Lys754fs)
|
rs398124210
|
|
NM_005609.4(PYGM):c.2312+19G>A
|
|
|
NM_005609.4(PYGM):c.2392T>A (p.Trp798Arg)
|
rs119103258
|
|
NM_005609.4(PYGM):c.2392T>C (p.Trp798Arg)
|
rs119103258
|
|
NM_005609.4(PYGM):c.244-19C>T
|
|
|
NM_005609.4(PYGM):c.506AGA[1] (p.Lys170del)
|
rs764823441
|
|