NM_000414.4(HSD17B4):c.743G>A (p.Arg248His)
|
rs748057401
|
0.00003
|
NM_000414.4(HSD17B4):c.394C>T (p.Arg132Trp)
|
rs773305477
|
0.00002
|
NC_000005.9:g.118829592G>T
|
rs368744809
|
0.00001
|
NM_000414.4(HSD17B4):c.1210-11C>G
|
rs779466683
|
0.00001
|
NM_000414.4(HSD17B4):c.1516C>T (p.Arg506Cys)
|
rs766199971
|
0.00001
|
NM_000414.4(HSD17B4):c.1547T>C (p.Ile516Thr)
|
rs587777443
|
0.00001
|
NM_000414.4(HSD17B4):c.1704T>A (p.Tyr568Ter)
|
rs1038744864
|
0.00001
|
NM_000414.4(HSD17B4):c.2116C>T (p.Gln706Ter)
|
rs771510541
|
0.00001
|
NM_000414.4(HSD17B4):c.280+2T>C
|
rs770772281
|
0.00001
|
NM_000414.4(HSD17B4):c.742C>T (p.Arg248Cys)
|
rs969485098
|
0.00001
|
NM_000414.4(HSD17B4):c.752G>A (p.Arg251Gln)
|
rs773024366
|
0.00001
|
NM_000414.4(HSD17B4):c.1132G>A (p.Gly378Arg)
|
rs1006852881
|
|
NM_000414.4(HSD17B4):c.1214T>C (p.Leu405Pro)
|
|
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NM_000414.4(HSD17B4):c.1233dup (p.Glu412fs)
|
rs2126790164
|
|
NM_000414.4(HSD17B4):c.1369A>T (p.Asn457Tyr)
|
rs137853097
|
|
NM_000414.4(HSD17B4):c.1383_1384del (p.Phe462fs)
|
rs2126814260
|
|
NM_000414.4(HSD17B4):c.1480dup (p.Thr494fs)
|
|
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NM_000414.4(HSD17B4):c.1503+1G>A
|
|
|
NM_000414.4(HSD17B4):c.1517G>A (p.Arg506His)
|
rs1554068136
|
|
NM_000414.4(HSD17B4):c.1573+1G>A
|
|
|
NM_000414.4(HSD17B4):c.1595A>G (p.His532Arg)
|
rs1554068272
|
|
NM_000414.4(HSD17B4):c.1628G>C (p.Arg543Pro)
|
rs201009485
|
|
NM_000414.4(HSD17B4):c.1630_1633dup (p.Leu545fs)
|
rs1057517323
|
|
NM_000414.4(HSD17B4):c.1635dup (p.Gln546fs)
|
|
|
NM_000414.4(HSD17B4):c.1636C>T (p.Gln546Ter)
|
|
|
NM_000414.4(HSD17B4):c.1681-1G>C
|
|
|
NM_000414.4(HSD17B4):c.1736del (p.Lys579fs)
|
|
|
NM_000414.4(HSD17B4):c.1768-1G>A
|
|
|
NM_000414.4(HSD17B4):c.177del (p.Glu60fs)
|
|
|
NM_000414.4(HSD17B4):c.1854+2T>C
|
|
|
NM_000414.4(HSD17B4):c.1973del (p.Gly658fs)
|
|
|
NM_000414.4(HSD17B4):c.1994-1G>A
|
|
|
NM_000414.4(HSD17B4):c.1994-1G>C
|
|
|
NM_000414.4(HSD17B4):c.2059del (p.Thr687fs)
|
|
|
NM_000414.4(HSD17B4):c.2071dup (p.Ser691fs)
|
|
|
NM_000414.4(HSD17B4):c.2072C>G (p.Ser691Ter)
|
|
|
NM_000414.4(HSD17B4):c.2121+1G>A
|
|
|
NM_000414.4(HSD17B4):c.212_216del (p.Ala71fs)
|
|
|
NM_000414.4(HSD17B4):c.2207T>A (p.Leu736His)
|
rs1755036404
|
|
NM_000414.4(HSD17B4):c.220G>A (p.Asp74Asn)
|
|
|
NM_000414.4(HSD17B4):c.270del (p.Phe90fs)
|
rs1276397342
|
|
NM_000414.4(HSD17B4):c.297_298delinsCAT (p.Ala100fs)
|
|
|
NM_000414.4(HSD17B4):c.350-1G>A
|
|
|
NM_000414.4(HSD17B4):c.350A>T (p.Asp117Val)
|
|
|
NM_000414.4(HSD17B4):c.423_424del (p.Lys142fs)
|
rs775832137
|
|
NM_000414.4(HSD17B4):c.435-2A>G
|
|
|
NM_000414.4(HSD17B4):c.581_612del (p.Pro194fs)
|
|
|
NM_000414.4(HSD17B4):c.59-1G>A
|
|
|
NM_000414.4(HSD17B4):c.623-2A>G
|
|
|
NM_000414.4(HSD17B4):c.652G>T (p.Val218Leu)
|
rs1749878115
|
|
NM_000414.4(HSD17B4):c.673C>T (p.Leu225Phe)
|
rs1749881286
|
|
NM_000414.4(HSD17B4):c.67C>T (p.Arg23Ter)
|
rs765702241
|
|
NM_000414.4(HSD17B4):c.715-1G>A
|
|
|
NM_000414.4(HSD17B4):c.725del (p.Gly242fs)
|
|
|
NM_000414.4(HSD17B4):c.739+1G>A
|
rs1561456373
|
|
NM_000414.4(HSD17B4):c.739+2T>C
|
|
|
NM_000414.4(HSD17B4):c.740T>A (p.Leu247Ter)
|
|
|
NM_000414.4(HSD17B4):c.868+1del
|
rs749532705
|
|
NM_000414.4(HSD17B4):c.872C>G (p.Ser291Ter)
|
rs1057516269
|
|
NM_000414.4(HSD17B4):c.936_937del (p.His312_Thr313insTer)
|
rs758055753
|
|
NM_000414.4(HSD17B4):c.972+1G>A
|
|
|
NM_000414.4(HSD17B4):c.972+1del
|
|
|