NM_000353.3(TAT):c.1297C>T (p.Arg433Trp)
|
rs761817519
|
0.00001
|
NM_000353.3(TAT):c.1298G>A (p.Arg433Gln)
|
rs775488556
|
0.00001
|
NM_000353.3(TAT):c.235+1G>A
|
rs748924248
|
0.00001
|
NM_000353.3(TAT):c.355C>T (p.Arg119Trp)
|
rs758306831
|
0.00001
|
NM_000353.3(TAT):c.889C>T (p.Arg297Ter)
|
rs758491525
|
0.00001
|
NM_000353.3(TAT):c.912+1G>A
|
rs2044196815
|
0.00001
|
NM_000353.3(TAT):c.916C>T (p.Arg306Ter)
|
rs1316166172
|
0.00001
|
NM_000353.3(TAT):c.1015del (p.Tyr339fs)
|
|
|
NM_000353.3(TAT):c.1028_1029del (p.Leu343fs)
|
|
|
NM_000353.3(TAT):c.1037_1038del (p.Leu346fs)
|
|
|
NM_000353.3(TAT):c.1041+2T>C
|
rs113758103
|
|
NM_000353.3(TAT):c.1041+2T>G
|
|
|
NM_000353.3(TAT):c.1042-2_1042del
|
|
|
NM_000353.3(TAT):c.1047del (p.Asn349fs)
|
rs1555537673
|
|
NM_000353.3(TAT):c.1125+1G>T
|
rs1555537662
|
|
NM_000353.3(TAT):c.1224G>T (p.Thr408=)
|
|
|
NM_000353.3(TAT):c.169C>T (p.Arg57Ter)
|
rs118203914
|
|
NM_000353.3(TAT):c.177dup (p.Val60fs)
|
rs1555538156
|
|
NM_000353.3(TAT):c.18_19del (p.Gln7fs)
|
|
|
NM_000353.3(TAT):c.1A>G (p.Met1Val)
|
rs1426882225
|
|
NM_000353.3(TAT):c.226dup (p.Leu76fs)
|
rs746077579
|
|
NM_000353.3(TAT):c.274_275del (p.Glu92fs)
|
|
|
NM_000353.3(TAT):c.283C>T (p.Gln95Ter)
|
|
|
NM_000353.3(TAT):c.313A>T (p.Lys105Ter)
|
|
|
NM_000353.3(TAT):c.340+2T>C
|
rs1555538138
|
|
NM_000353.3(TAT):c.396_408+201del
|
|
|
NM_000353.3(TAT):c.440C>T (p.Ala147Val)
|
|
|
NM_000353.3(TAT):c.452G>A (p.Cys151Tyr)
|
rs1357257156
|
|
NM_000353.3(TAT):c.556T>C (p.Tyr186His)
|
rs2145232912
|
|
NM_000353.3(TAT):c.568-2A>G
|
rs1555537871
|
|
NM_000353.3(TAT):c.599_603del (p.Gln200fs)
|
|
|
NM_000353.3(TAT):c.632_634delinsA (p.Cys211fs)
|
|
|
NM_000353.3(TAT):c.680_692del (p.Lys227fs)
|
|
|
NM_000353.3(TAT):c.706+2T>C
|
|
|
NM_000353.3(TAT):c.707-1G>A
|
rs1555537814
|
|
NM_000353.3(TAT):c.707-2A>G
|
rs1005382525
|
|
NM_000353.3(TAT):c.759+1G>A
|
rs2145232021
|
|
NM_000353.3(TAT):c.814del (p.Ile272fs)
|
rs2044197900
|
|
NM_000353.3(TAT):c.825del (p.Cys275fs)
|
rs2145231253
|
|
NM_000353.3(TAT):c.8dup (p.Tyr4fs)
|
|
|
NM_000353.3(TAT):c.906_912+12del
|
rs1555537741
|
|