NM_000132.4(F8):c.1700T>C (p.Ile567Thr)
|
rs782193428
|
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.6533G>A (p.Arg2178His)
|
rs137852465
|
0.00001
|
NM_000133.4(F9):c.224G>A (p.Arg75Gln)
|
rs137852228
|
0.00001
|
NM_000133.4(F9):c.571C>T (p.Arg191Cys)
|
rs137852237
|
0.00001
|
NM_000132.4(F8):c.1034T>C (p.Val345Ala)
|
rs1189348665
|
|
NM_000132.4(F8):c.1073dup (p.Asn358fs)
|
rs1603435281
|
|
NM_000132.4(F8):c.143G>A (p.Arg48Lys)
|
rs1261929809
|
|
NM_000132.4(F8):c.1654T>C (p.Tyr552His)
|
rs1603434863
|
|
NM_000132.4(F8):c.1894del (p.Ile632fs)
|
rs1603434698
|
|
NM_000132.4(F8):c.1898T>G (p.Met633Arg)
|
rs1603434697
|
|
NM_000132.4(F8):c.2099C>T (p.Ser700Leu)
|
rs1359096117
|
|
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.5217C>T (p.Asn1739=)
|
rs1603433715
|
|
NM_000132.4(F8):c.5219+2T>C
|
rs1603433713
|
|
NM_000132.4(F8):c.5530C>T (p.Pro1844Ser)
|
rs28933675
|
|
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.6437T>C (p.Phe2146Ser)
|
rs1603431561
|
|
NM_000132.4(F8):c.6592G>A (p.Gly2198Arg)
|
rs1603431512
|
|
NM_000132.4(F8):c.671-50_787+50del
|
rs1603436123
|
|
NM_000132.4(F8):c.6776T>A (p.Val2259Asp)
|
rs1603431479
|
|
NM_000132.4(F8):c.6920A>C (p.Asp2307Ala)
|
rs1603430929
|
|
NM_000133.4(F9):c.*1157A>G
|
rs1317977313
|
|
NM_000133.4(F9):c.1004G>A (p.Cys335Tyr)
|
|
|
NM_000133.4(F9):c.1004G>T (p.Cys335Phe)
|
|
|
NM_000133.4(F9):c.1005C>G (p.Cys335Trp)
|
rs1928110579
|
|
NM_000133.4(F9):c.1009G>C (p.Ala337Pro)
|
rs137852253
|
|
NM_000133.4(F9):c.1084A>G (p.Lys362Glu)
|
|
|
NM_000133.4(F9):c.1175ACA[1] (p.Asn393del)
|
|
|
NM_000133.4(F9):c.1193G>T (p.Gly398Val)
|
|
|
NM_000133.4(F9):c.141T>A (p.Tyr47Ter)
|
rs1556435929
|
|
NM_000133.4(F9):c.271T>A (p.Tyr91Asn)
|
rs1927507602
|
|
NM_000133.4(F9):c.284A>C (p.Asp95Ala)
|
rs1927589695
|
|
NM_000133.4(F9):c.284A>T (p.Asp95Val)
|
rs1927589695
|
|
NM_000133.4(F9):c.314G>A (p.Gly105Asp)
|
rs1927590546
|
|
NM_000133.4(F9):c.365G>T (p.Gly122Val)
|
rs1927592770
|
|
NM_000133.4(F9):c.391+5G>A
|
rs2148358021
|
|
NM_000133.4(F9):c.391+5_391+8del
|
rs1927593812
|
|
NM_000133.4(F9):c.505T>C (p.Ser169Pro)
|
|
|
NM_000133.4(F9):c.519dup (p.Val174fs)
|
rs1556006174
|
|
NM_000133.4(F9):c.520G>A (p.Val174Met)
|
rs1603265504
|
|
NM_000133.4(F9):c.676C>T (p.Arg226Trp)
|
rs137852240
|
|
NM_000133.4(F9):c.731T>C (p.Leu244Ser)
|
rs1603267171
|
|
NM_000133.4(F9):c.756T>G (p.Cys252Trp)
|
rs1556008316
|
|
NM_000133.4(F9):c.835G>A (p.Ala279Thr)
|
rs137852247
|
|
NM_000133.4(F9):c.853G>T (p.Glu285Ter)
|
|
|
NM_000133.4(F9):c.884_895del (p.Asn295_Arg298del)
|
rs1928103331
|
|
NM_000133.4(F9):c.914A>G (p.Tyr305Cys)
|
rs1603267332
|
|
NM_000133.4(F9):c.950C>T (p.Ala317Val)
|
rs2148367725
|
|
NM_000133.4(F9):c.959A>G (p.Glu320Gly)
|
|
|
Single allele
|
|
|