NM_014112.5(TRPS1):c.-121-296T>G
|
rs2721940
|
0.72747
|
NM_014112.5(TRPS1):c.-78G>A
|
rs2721939
|
0.63039
|
NM_014112.5(TRPS1):c.37+140C>T
|
rs2737219
|
0.55025
|
NM_014112.5(TRPS1):c.37+217G>A
|
rs2721938
|
0.54738
|
NM_014112.5(TRPS1):c.-9dup
|
rs35329862
|
0.30691
|
NM_014112.5(TRPS1):c.966+81A>G
|
rs2737218
|
0.22577
|
NM_014112.5(TRPS1):c.423G>T (p.Pro141=)
|
rs7823278
|
0.13335
|
NM_014112.5(TRPS1):c.2097-177A>G
|
rs71530811
|
0.07043
|
NM_014112.5(TRPS1):c.2700+10T>C
|
rs76046106
|
0.03410
|
NM_014112.5(TRPS1):c.38-89A>G
|
rs7842306
|
0.02413
|
NM_014112.5(TRPS1):c.967-82G>A
|
rs116000086
|
0.01791
|
NM_014112.5(TRPS1):c.967-185A>G
|
rs76695543
|
0.01790
|
NM_014112.5(TRPS1):c.967-130T>C
|
rs75227039
|
0.01692
|
NM_014112.5(TRPS1):c.1788T>C (p.Tyr596=)
|
rs34094363
|
0.01557
|
NM_014112.5(TRPS1):c.2766G>A (p.Lys922=)
|
rs34786438
|
0.01390
|
NM_014112.5(TRPS1):c.816G>A (p.Glu272=)
|
rs7016652
|
0.00169
|
NM_014112.5(TRPS1):c.1195C>T (p.Leu399Phe)
|
rs147432147
|
0.00163
|
NM_014112.5(TRPS1):c.2658G>T (p.Ser886=)
|
rs191525942
|
0.00158
|
NM_014112.5(TRPS1):c.2823+15C>A
|
rs201296334
|
0.00143
|
NM_014112.5(TRPS1):c.1544C>T (p.Ser515Leu)
|
rs142784032
|
0.00134
|
NM_014112.5(TRPS1):c.2485C>G (p.Pro829Ala)
|
rs78472570
|
0.00088
|
NM_014112.5(TRPS1):c.2976G>A (p.Pro992=)
|
rs201030937
|
0.00076
|
NM_014112.5(TRPS1):c.1164A>G (p.Ser388=)
|
rs138244006
|
0.00061
|
NM_014112.5(TRPS1):c.2223G>A (p.Glu741=)
|
rs199732237
|
0.00056
|
NM_014112.5(TRPS1):c.2701-13T>C
|
rs748717384
|
0.00050
|
NM_014112.5(TRPS1):c.967-14C>T
|
rs200044397
|
0.00041
|
NM_014112.5(TRPS1):c.2701-9_2701-8del
|
rs368655299
|
0.00038
|
NM_014112.5(TRPS1):c.2460C>T (p.Thr820=)
|
rs373410728
|
0.00035
|
NM_014112.5(TRPS1):c.3015C>G (p.His1005Gln)
|
rs199839411
|
0.00034
|
NM_014112.5(TRPS1):c.665A>G (p.Asn222Ser)
|
rs61745721
|
0.00034
|
NM_014112.5(TRPS1):c.170A>G (p.Glu57Gly)
|
rs201770819
|
0.00026
|
NM_014112.5(TRPS1):c.2441G>T (p.Arg814Leu)
|
rs146506752
|
0.00016
|
NM_014112.5(TRPS1):c.1456G>A (p.Asp486Asn)
|
rs34474186
|
0.00013
|
NM_014112.5(TRPS1):c.1857G>A (p.Ala619=)
|
rs201618790
|
0.00011
|
NM_014112.5(TRPS1):c.542A>G (p.Gln181Arg)
|
rs202001185
|
0.00010
|
NM_014112.5(TRPS1):c.3482A>G (p.Asn1161Ser)
|
rs547426784
|
0.00001
|
GRCh37/hg19 8q23.3(chr8:116420327-116648565)x3
|
|
|
NM_014112.5(TRPS1):c.-318CT[10]
|
|
|
NM_014112.5(TRPS1):c.1299C>G (p.Leu433=)
|
rs370007078
|
|
NM_014112.5(TRPS1):c.1587G>A (p.Glu529=)
|
|
|
NM_014112.5(TRPS1):c.1869G>A (p.Ser623=)
|
rs751550383
|
|
NM_014112.5(TRPS1):c.2097-251GT[10]
|
rs34198799
|
|
NM_014112.5(TRPS1):c.2097-251GT[9]
|
rs34198799
|
|
NM_014112.5(TRPS1):c.2282A>G (p.Asn761Ser)
|
|
|
NM_014112.5(TRPS1):c.2301T>C (p.Ser767=)
|
|
|
NM_014112.5(TRPS1):c.2409C>T (p.Arg803=)
|
|
|
NM_014112.5(TRPS1):c.2502A>G (p.Gln834=)
|
rs2130444280
|
|
NM_014112.5(TRPS1):c.2700+29A>C
|
rs2293889
|
|
NM_014112.5(TRPS1):c.271G>A (p.Ala91Thr)
|
|
|
NM_014112.5(TRPS1):c.2824-17G>A
|
|
|
NM_014112.5(TRPS1):c.2958G>A (p.Glu986=)
|
|
|
NM_014112.5(TRPS1):c.38-124_38-123del
|
rs10589819
|
|
NM_014112.5(TRPS1):c.523G>A (p.Glu175Lys)
|
|
|