NM_000132.4(F8):c.3980C>T (p.Thr1327Met)
|
rs200520711
|
0.00009
|
NM_000132.4(F8):c.6089G>A (p.Ser2030Asn)
|
rs369414658
|
0.00009
|
NM_000132.4(F8):c.1094A>G (p.Tyr365Cys)
|
rs375241473
|
0.00007
|
NM_000132.4(F8):c.1700T>C (p.Ile567Thr)
|
rs782193428
|
0.00003
|
NM_000132.4(F8):c.6901-725T>C
|
rs1393847621
|
0.00003
|
NM_000132.4(F8):c.733C>T (p.Arg245Trp)
|
rs781943956
|
0.00003
|
NM_000132.4(F8):c.1093T>C (p.Tyr365His)
|
rs782216863
|
0.00002
|
NM_000132.4(F8):c.2149C>T (p.Arg717Trp)
|
rs137852435
|
0.00002
|
NM_000132.4(F8):c.5123G>A (p.Arg1708His)
|
rs111033614
|
0.00002
|
NM_000132.4(F8):c.1834C>T (p.Arg612Cys)
|
rs137852428
|
0.00001
|
NM_000132.4(F8):c.2167G>A (p.Ala723Thr)
|
rs137852436
|
0.00001
|
NM_000132.4(F8):c.5303G>A (p.Arg1768His)
|
rs151202877
|
0.00001
|
NM_000132.4(F8):c.5954G>A (p.Arg1985Gln)
|
rs1490417405
|
0.00001
|
NM_000132.4(F8):c.599A>G (p.Glu200Gly)
|
rs782158761
|
0.00001
|
NM_000132.4(F8):c.6533G>A (p.Arg2178His)
|
rs137852465
|
0.00001
|
NM_000132.4(F8):c.6932C>A (p.Pro2311His)
|
rs1047644991
|
0.00001
|
NM_000132.4(F8):c.6977G>A (p.Arg2326Gln)
|
rs137852360
|
0.00001
|
NM_000132.4(F8):c.1020A>C (p.Glu340Asp)
|
rs1603435286
|
|
NM_000132.4(F8):c.1034T>C (p.Val345Ala)
|
rs1189348665
|
|
NM_000132.4(F8):c.1073dup (p.Asn358fs)
|
rs1603435281
|
|
NM_000132.4(F8):c.1172G>A (p.Arg391His)
|
rs28935499
|
|
NM_000132.4(F8):c.1364T>G (p.Phe455Cys)
|
rs1603435217
|
|
NM_000132.4(F8):c.143G>A (p.Arg48Lys)
|
rs1261929809
|
|
NM_000132.4(F8):c.1492G>A (p.Gly498Arg)
|
rs137852414
|
|
NM_000132.4(F8):c.1621A>T (p.Thr541Ser)
|
rs139526001
|
|
NM_000132.4(F8):c.1636C>T (p.Arg546Trp)
|
rs137852416
|
|
NM_000132.4(F8):c.1654T>C (p.Tyr552His)
|
rs1603434863
|
|
NM_000132.4(F8):c.1804C>G (p.Arg602Gly)
|
rs137852424
|
|
NM_000132.4(F8):c.1804C>T (p.Arg602Ter)
|
rs137852424
|
|
NM_000132.4(F8):c.1894del (p.Ile632fs)
|
rs1603434698
|
|
NM_000132.4(F8):c.1898T>G (p.Met633Arg)
|
rs1603434697
|
|
NM_000132.4(F8):c.2043G>C (p.Met681Ile)
|
rs1603434460
|
|
NM_000132.4(F8):c.2099C>T (p.Ser700Leu)
|
rs1359096117
|
|
NM_000132.4(F8):c.2114-6760_2257del
|
|
|
NM_000132.4(F8):c.3247_3248del (p.Met1083fs)
|
rs1603433803
|
|
NM_000132.4(F8):c.3637del (p.Ile1213fs)
|
rs387906450
|
|
NM_000132.4(F8):c.4313dup (p.Ser1439fs)
|
rs1603433756
|
|
NM_000132.4(F8):c.460A>C (p.Thr154Pro)
|
rs1603436436
|
|
NM_000132.4(F8):c.5164G>A (p.Val1722Met)
|
rs1603433719
|
|
NM_000132.4(F8):c.5217C>T (p.Asn1739=)
|
rs1603433715
|
|
NM_000132.4(F8):c.5219+2T>C
|
rs1603433713
|
|
NM_000132.4(F8):c.541G>A (p.Val181Met)
|
rs137852394
|
|
NM_000132.4(F8):c.5530C>T (p.Pro1844Ser)
|
rs28933675
|
|
NM_000132.4(F8):c.5587-98G>A
|
rs1603432993
|
|
NM_000132.4(F8):c.558C>A (p.Asp186Glu)
|
rs1603436426
|
|
NM_000132.4(F8):c.5896A>C (p.Met1966Leu)
|
rs1603432970
|
|
NM_000132.4(F8):c.5918A>T (p.His1973Leu)
|
rs1273080258
|
|
NM_000132.4(F8):c.5993A>T (p.Tyr1998Phe)
|
rs2073022685
|
|
NM_000132.4(F8):c.6082G>A (p.Gly2028Arg)
|
rs1603432908
|
|
NM_000132.4(F8):c.6104T>C (p.Val2035Ala)
|
rs1603432906
|
|
NM_000132.4(F8):c.6434T>G (p.Phe2145Cys)
|
rs1603431562
|
|
NM_000132.4(F8):c.6437T>C (p.Phe2146Ser)
|
rs1603431561
|
|
NM_000132.4(F8):c.6506G>A (p.Arg2169His)
|
rs137852461
|
|
NM_000132.4(F8):c.6547A>G (p.Met2183Val)
|
rs781797728
|
|
NM_000132.4(F8):c.6592G>A (p.Gly2198Arg)
|
rs1603431512
|
|
NM_000132.4(F8):c.6683G>A (p.Arg2228Gln)
|
rs137852358
|
|
NM_000132.4(F8):c.6685C>T (p.Leu2229Phe)
|
rs1603431508
|
|
NM_000132.4(F8):c.6686T>C (p.Leu2229Pro)
|
rs1603431506
|
|
NM_000132.4(F8):c.671-50_787+50del
|
rs1603436123
|
|
NM_000132.4(F8):c.6744G>T (p.Trp2248Cys)
|
rs137852469
|
|
NM_000132.4(F8):c.6751G>A (p.Val2251Met)
|
rs1603431480
|
|
NM_000132.4(F8):c.6776T>A (p.Val2259Asp)
|
rs1603431479
|
|
NM_000132.4(F8):c.6920A>C (p.Asp2307Ala)
|
rs1603430929
|
|
NM_000132.4(F8):c.6956C>T (p.Pro2319Leu)
|
rs137852472
|
|
NM_000132.4(F8):c.788-14T>G
|
rs1603435417
|
|
NM_000132.4(F8):c.926C>T (p.Pro309Leu)
|
rs1603435401
|
|
NM_000132.4(F8):c.935T>C (p.Phe312Ser)
|
rs137852405
|
|
NM_000132.4(F8):c.979C>G (p.Leu327Val)
|
rs1603435395
|
|
Single allele
|
|
|