NM_000485.3(APRT):c.334A>T (p.Ile112Phe)
|
rs767177754
|
0.00009
|
NM_000485.3(APRT):c.160C>G (p.His54Asp)
|
rs752977102
|
0.00007
|
NM_000485.3(APRT):c.400+2dup
|
rs745594160
|
0.00005
|
NM_000485.3(APRT):c.352G>C (p.Glu118Gln)
|
rs370665100
|
0.00004
|
NM_000485.3(APRT):c.194A>T (p.Asp65Val)
|
rs104894506
|
0.00003
|
NM_000485.3(APRT):c.250G>A (p.Val84Met)
|
rs200392753
|
0.00003
|
NM_000485.3(APRT):c.448G>T (p.Val150Phe)
|
rs281860266
|
0.00002
|
NM_000485.3(APRT):c.81-3C>G
|
rs761838152
|
0.00002
|
NM_000485.3(APRT):c.199C>T (p.Arg67Ter)
|
rs369681854
|
0.00001
|
NM_000485.3(APRT):c.259C>T (p.Arg87Ter)
|
rs3169258
|
0.00001
|
NM_000485.3(APRT):c.294G>A (p.Trp98Ter)
|
rs104894507
|
0.00001
|
NM_000485.3(APRT):c.329T>C (p.Leu110Pro)
|
rs104894508
|
0.00001
|
NM_000485.3(APRT):c.359G>T (p.Gly120Val)
|
rs776948275
|
0.00001
|
NM_000485.3(APRT):c.491G>A (p.Gly164Asp)
|
rs768425517
|
0.00001
|
NM_000485.3(APRT):c.522_524del (p.Ser175del)
|
rs1909034163
|
0.00001
|
NM_000485.3(APRT):c.542G>C (p.Ter181Ser)
|
rs387906584
|
0.00001
|
NM_000485.2:c.-1_*1del
|
|
|
NM_000485.3(APRT):c.119G>C (p.Arg40Pro)
|
rs1909144433
|
|
NM_000485.3(APRT):c.180_181insT (p.Ile61fs)
|
rs1909139691
|
|
NM_000485.3(APRT):c.184_187+22del
|
rs1909137923
|
|
NM_000485.3(APRT):c.188-145_296del
|
rs1909079256
|
|
NM_000485.3(APRT):c.188-145_296delinsTTCCCGTA
|
|
|
NM_000485.3(APRT):c.188-3C>G
|
rs766646831
|
|
NM_000485.3(APRT):c.188G>A (p.Gly63Asp)
|
rs1909091672
|
|
NM_000485.3(APRT):c.200G>A (p.Arg67Gln)
|
rs762509151
|
|
NM_000485.3(APRT):c.227C>T (p.Ala76Val)
|
rs1909088511
|
|
NM_000485.3(APRT):c.258_261dup (p.Lys88fs)
|
rs281860265
|
|
NM_000485.3(APRT):c.264G>T (p.Lys88Asn)
|
rs138781159
|
|
NM_000485.3(APRT):c.280_286del (p.Gly94fs)
|
rs776240467
|
|
NM_000485.3(APRT):c.286_287del (p.Thr96fs)
|
rs1449730265
|
|
NM_000485.3(APRT):c.289_290del (p.Leu97fs)
|
rs1437920638
|
|
NM_000485.3(APRT):c.311A>G (p.Glu104Gly)
|
rs1909078308
|
|
NM_000485.3(APRT):c.321+2dup
|
rs281860263
|
|
NM_000485.3(APRT):c.371T>G (p.Val124Gly)
|
rs1909057938
|
|
NM_000485.3(APRT):c.380A>G (p.Asp127Gly)
|
rs1909057323
|
|
NM_000485.3(APRT):c.398G>A (p.Gly133Asp)
|
rs1909055807
|
|
NM_000485.3(APRT):c.400+1G>T
|
rs1317695590
|
|
NM_000485.3(APRT):c.400+3A>T
|
rs1909055310
|
|
NM_000485.3(APRT):c.407T>C (p.Met136Thr)
|
rs28999113
|
|
NM_000485.3(APRT):c.428T>C (p.Leu143Pro)
|
rs1909040577
|
|
NM_000485.3(APRT):c.439C>T (p.Gln147Ter)
|
rs745872435
|
|
NM_000485.3(APRT):c.457T>C (p.Cys153Arg)
|
rs764321075
|
|
NM_000485.3(APRT):c.461_462del (p.Val154fs)
|
rs1909038050
|
|
NM_000485.3(APRT):c.472_474del (p.Glu158del)
|
rs1909037144
|
|
NM_000485.3(APRT):c.510del (p.Val171fs)
|
rs1909035155
|
|
NM_000485.3(APRT):c.518TCT[1] (p.Phe174del)
|
rs121912681
|
|
NM_000485.3(APRT):c.526C>T (p.Leu176Phe)
|
rs1909033869
|
|
NM_000485.3(APRT):c.526_530del (p.Leu176fs)
|
rs755380873
|
|
NM_000485.3(APRT):c.532C>T (p.Gln178Ter)
|
rs1165408563
|
|
NM_000485.3(APRT):c.541T>C (p.Ter181Arg)
|
rs758634272
|
|
NM_000485.3(APRT):c.543A>T (p.Ter181Cys)
|
rs1909032484
|
|
NM_000485.3(APRT):c.81-2A>G
|
rs751779314
|
|
NM_000485.3(APRT):c.82G>C (p.Asp28His)
|
rs1909147057
|
|
NM_000485.3(APRT):c.98T>C (p.Leu33Pro)
|
rs1909145695
|
|