NM_000512.5(GALNS):c.*367T>C
|
rs1141390
|
0.33207
|
NM_000512.5(GALNS):c.*611A>G
|
rs1135364
|
0.26293
|
NM_000512.5(GALNS):c.*36G>A
|
rs11076715
|
0.23846
|
NM_000512.5(GALNS):c.*652A>G
|
rs1135366
|
0.23189
|
NM_000512.5(GALNS):c.*701C>G
|
rs77936719
|
0.21621
|
NM_000485.2(APRT):c.-50C>A
|
rs8191469
|
0.06915
|
NM_000485.3(APRT):c.*3A>G
|
rs2070256
|
0.05786
|
NM_000512.5(GALNS):c.*524G>C
|
rs3759946
|
0.04660
|
NM_000512.5(GALNS):c.*296A>G
|
rs79507351
|
0.02153
|
NM_000485.3(APRT):c.97C>T (p.Leu33=)
|
rs8191473
|
0.01977
|
NM_000485.3(APRT):c.*47T>C
|
rs8191497
|
0.01906
|
NM_000512.5(GALNS):c.*224C>G
|
rs111233947
|
0.01437
|
NM_000485.3(APRT):c.90G>T (p.Ser30=)
|
rs8191472
|
0.01050
|
NM_000512.5(GALNS):c.*3C>G
|
rs77826920
|
0.01005
|
NM_000512.5(GALNS):c.*236C>T
|
rs189375208
|
0.00701
|
NM_000485.3(APRT):c.*182A>G
|
rs8191498
|
0.00599
|
NM_000512.5(GALNS):c.1247T>C (p.Ile416Thr)
|
rs142822371
|
0.00093
|
NM_000512.5(GALNS):c.*287T>C
|
rs776880179
|
0.00014
|
NM_000404.3(GLB1):c.-73C>T
|
rs530326876
|
0.00001
|
NM_000404.4(GLB1):c.1603C>G (p.His535Asp)
|
rs886058341
|
|
NM_000404.4(GLB1):c.1735-15TC[7]
|
rs745361874
|
|
NM_000485.3(APRT):c.*178A>G
|
rs4695
|
|
NM_000512.5(GALNS):c.*123G>C
|
rs886052453
|
|
NM_000512.5(GALNS):c.*207G>T
|
rs886052452
|
|
NM_000512.5(GALNS):c.400G>A (p.Val134Ile)
|
rs886052457
|
|
NM_001039770.3(TMPPE):c.-510T>G
|
rs886058344
|
|