NM_004984.4(KIF5A):c.2147G>A (p.Arg716Gln)
|
rs554894381
|
0.00005
|
NM_004984.4(KIF5A):c.2263G>A (p.Glu755Lys)
|
rs387907286
|
0.00002
|
NM_004984.4(KIF5A):c.1082C>T (p.Ala361Val)
|
rs121434444
|
0.00001
|
NM_004984.4(KIF5A):c.1762C>T (p.Arg588Ter)
|
rs1555178348
|
0.00001
|
NM_004984.4(KIF5A):c.3020+1G>A
|
rs1555179091
|
0.00001
|
NM_004984.4(KIF5A):c.967C>T (p.Arg323Trp)
|
rs1012819766
|
0.00001
|
KIF5A, 1-BP DEL, 2934G
|
|
|
NM_004984.4(KIF5A):c.1272_1273del (p.Leu424_Tyr425insTer)
|
|
|
NM_004984.4(KIF5A):c.1342C>T (p.Gln448Ter)
|
|
|
NM_004984.4(KIF5A):c.1378C>T (p.Arg460Ter)
|
rs1882272161
|
|
NM_004984.4(KIF5A):c.1636C>T (p.Arg546Ter)
|
rs185438769
|
|
NM_004984.4(KIF5A):c.1858G>T (p.Glu620Ter)
|
rs2140167500
|
|
NM_004984.4(KIF5A):c.1901_1905delCTCAG (p.Ser634_Gln635insTer)
|
|
|
NM_004984.4(KIF5A):c.2030_2031del (p.Val677fs)
|
|
|
NM_004984.4(KIF5A):c.2068C>T (p.Gln690Ter)
|
|
|
NM_004984.4(KIF5A):c.2314C>T (p.Arg772Ter)
|
rs1555178616
|
|
NM_004984.4(KIF5A):c.2590C>T (p.Arg864Ter)
|
rs1882578572
|
|
NM_004984.4(KIF5A):c.2608G>T (p.Glu870Ter)
|
rs1594925773
|
|
NM_004984.4(KIF5A):c.263C>T (p.Thr88Ile)
|
|
|
NM_004984.4(KIF5A):c.2811del (p.Thr938fs)
|
rs1882598771
|
|
NM_004984.4(KIF5A):c.2854del (p.Gln952fs)
|
rs1057519078
|
|
NM_004984.4(KIF5A):c.2913_2914insA (p.Ala972fs)
|
rs1565705251
|
|
NM_004984.4(KIF5A):c.2922del (p.Cys975fs)
|
rs1057517673
|
|
NM_004984.4(KIF5A):c.2993-3C>T
|
rs1402429085
|
|
NM_004984.4(KIF5A):c.3020+1G>C
|
rs1555179091
|
|
NM_004984.4(KIF5A):c.395A>G (p.Lys132Arg)
|
rs2140159183
|
|
NM_004984.4(KIF5A):c.416A>G (p.Tyr139Cys)
|
rs2140159368
|
|
NM_004984.4(KIF5A):c.43C>T (p.Arg15Ter)
|
rs2140150119
|
|
NM_004984.4(KIF5A):c.484C>T (p.Arg162Trp)
|
rs748551786
|
|
NM_004984.4(KIF5A):c.500del (p.Lys167fs)
|
|
|
NM_004984.4(KIF5A):c.552_555del (p.Ile184fs)
|
|
|
NM_004984.4(KIF5A):c.572G>A (p.Arg191His)
|
rs1488871976
|
|
NM_004984.4(KIF5A):c.604A>G (p.Ser202Gly)
|
rs1057524193
|
|
NM_004984.4(KIF5A):c.605G>A (p.Ser202Asn)
|
rs1057519195
|
|
NM_004984.4(KIF5A):c.610C>T (p.Arg204Trp)
|
rs1555177629
|
|
NM_004984.4(KIF5A):c.611G>A (p.Arg204Gln)
|
rs387907287
|
|
NM_004984.4(KIF5A):c.694G>A (p.Asp232Asn)
|
rs690016545
|
|
NM_004984.4(KIF5A):c.704G>A (p.Gly235Glu)
|
rs387907289
|
|
NM_004984.4(KIF5A):c.728G>A (p.Gly243Glu)
|
rs2140162541
|
|
NM_004984.4(KIF5A):c.737G>T (p.Gly246Val)
|
|
|
NM_004984.4(KIF5A):c.745C>G (p.Leu249Val)
|
|
|
NM_004984.4(KIF5A):c.751G>A (p.Glu251Lys)
|
rs387907285
|
|
NM_004984.4(KIF5A):c.763A>G (p.Ile255Val)
|
rs2140162576
|
|
NM_004984.4(KIF5A):c.765C>G (p.Ile255Met)
|
rs2140162581
|
|
NM_004984.4(KIF5A):c.767A>G (p.Asn256Ser)
|
rs121434441
|
|
NM_004984.4(KIF5A):c.827A>G (p.Tyr276Cys)
|
rs121434443
|
|
NM_004984.4(KIF5A):c.833C>T (p.Pro278Leu)
|
rs1555177824
|
|
NM_004984.4(KIF5A):c.838C>T (p.Arg280Cys)
|
rs121434442
|
|
NM_004984.4(KIF5A):c.839G>A (p.Arg280His)
|
rs387907288
|
|
NM_004984.4(KIF5A):c.854C>T (p.Thr285Ile)
|
rs2140162883
|
|
NM_004984.4(KIF5A):c.889C>T (p.Arg297Trp)
|
rs1416085161
|
|