NM_000512.5(GALNS):c.1162G>A (p.Asp388Asn)
|
rs373739301
|
0.00001
|
NM_000543.5(SMPD1):c.1001T>C (p.Ile334Thr)
|
rs759950370
|
0.00001
|
NM_000543.5(SMPD1):c.1202C>G (p.Pro401Arg)
|
rs1206562843
|
0.00001
|
NM_000543.5(SMPD1):c.1361C>A (p.Ala454Asp)
|
rs1402734026
|
0.00001
|
NM_000543.5(SMPD1):c.1804C>T (p.Arg602Cys)
|
rs763099671
|
0.00001
|
NM_000512.5(GALNS):c.1142C>G (p.Pro381Arg)
|
rs2142993896
|
|
NM_000512.5(GALNS):c.569A>G (p.Tyr190Cys)
|
rs886042058
|
|
NM_000512.5(GALNS):c.611A>G (p.Asn204Ser)
|
rs569725936
|
|
NM_000543.5(SMPD1):c.108GCTGGC[8] (p.38AL[8])
|
rs3838786
|
|
NM_000543.5(SMPD1):c.1090A>G (p.Arg364Gly)
|
rs1242180535
|
|
NM_000543.5(SMPD1):c.1105T>C (p.Tyr369His)
|
rs1848014133
|
|
NM_000543.5(SMPD1):c.1233G>C (p.Glu411Asp)
|
rs34555120
|
|
NM_000543.5(SMPD1):c.1375C>T (p.His459Tyr)
|
rs1848060631
|
|
NM_000543.5(SMPD1):c.1376A>G (p.His459Arg)
|
rs1848060729
|
|
NM_000543.5(SMPD1):c.1406A>G (p.Tyr469Cys)
|
rs267607074
|
|
NM_000543.5(SMPD1):c.1426C>G (p.Arg476Gly)
|
rs182812968
|
|
NM_000543.5(SMPD1):c.1489T>C (p.Tyr497His)
|
rs1848079553
|
|
NM_000543.5(SMPD1):c.1526G>C (p.Ser509Thr)
|
rs764772735
|
|
NM_000543.5(SMPD1):c.1553C>T (p.Thr518Ile)
|
rs752679988
|
|
NM_000543.5(SMPD1):c.1786T>C (p.Cys596Arg)
|
rs1848099174
|
|
NM_000543.5(SMPD1):c.290T>C (p.Leu97Pro)
|
rs1847878243
|
|
NM_000543.5(SMPD1):c.464C>G (p.Pro155Arg)
|
rs1369175943
|
|
NM_000543.5(SMPD1):c.620C>A (p.Thr207Asn)
|
rs1847921260
|
|
NM_000543.5(SMPD1):c.634G>C (p.Asp212His)
|
rs772889728
|
|
NM_000543.5(SMPD1):c.667T>G (p.Cys223Gly)
|
rs1847923379
|
|
NM_000543.5(SMPD1):c.754T>C (p.Cys252Arg)
|
rs1847929817
|
|
NM_000543.5(SMPD1):c.797T>C (p.Leu266Pro)
|
rs1847932355
|
|
NM_000543.5(SMPD1):c.827A>G (p.Tyr276Cys)
|
rs1847934777
|
|
NM_000543.5(SMPD1):c.881A>G (p.Gln294Arg)
|
rs1847939431
|
|
NM_000543.5(SMPD1):c.893T>C (p.Leu298Pro)
|
rs1847940504
|
|
NM_000543.5(SMPD1):c.955G>A (p.Gly319Ser)
|
rs757934797
|
|