NM_001114753.3(ENG):c.572G>A (p.Gly191Asp)
|
rs41322046
|
0.01000
|
NM_001114753.3(ENG):c.1844C>T (p.Ser615Leu)
|
rs148002300
|
0.00134
|
NM_001114753.3(ENG):c.219+22C>T
|
rs370257876
|
0.00073
|
NM_001114753.3(ENG):c.7C>T (p.Arg3Cys)
|
rs139334561
|
0.00024
|
NM_001114753.3(ENG):c.388C>T (p.Pro130Ser)
|
rs199840979
|
0.00021
|
NM_001114753.3(ENG):c.1019C>T (p.Pro340Leu)
|
rs772135786
|
0.00004
|
NM_001114753.3(ENG):c.1134G>A (p.Ala378=)
|
rs1329127701
|
0.00003
|
NM_001114753.3(ENG):c.-127C>T
|
rs1060501408
|
|
NM_001114753.3(ENG):c.1080_1083del (p.Thr361fs)
|
rs863223540
|
|
NM_001114753.3(ENG):c.146del (p.Val49fs)
|
rs1831082309
|
|
NM_001114753.3(ENG):c.155G>A (p.Gly52Asp)
|
rs1564462765
|
|
NM_001114753.3(ENG):c.159C>A (p.Cys53Ter)
|
rs148475405
|
|
NM_001114753.3(ENG):c.164del (p.Ala55fs)
|
rs1831081460
|
|
NM_001114753.3(ENG):c.166C>T (p.Gln56Ter)
|
rs1588596879
|
|
NM_001114753.3(ENG):c.1A>G (p.Met1Val)
|
rs1060501418
|
|
NM_001114753.3(ENG):c.208G>T (p.Glu70Ter)
|
rs1179814153
|
|
NM_001114753.3(ENG):c.220-225_991+123del
|
|
|
NM_001114753.3(ENG):c.220-226_1134+331del
|
|
|
NM_001114753.3(ENG):c.220-988_1134+331del
|
|
|
NM_001114753.3(ENG):c.239T>C (p.Leu80Pro)
|
rs1830718809
|
|
NM_001114753.3(ENG):c.277C>T (p.Arg93Ter)
|
rs886039506
|
|
NM_001114753.3(ENG):c.298_299del (p.Ser100fs)
|
rs1830715784
|
|
NM_001114753.3(ENG):c.328C>T (p.Gln110Ter)
|
rs1830713927
|
|
NM_001114753.3(ENG):c.35T>C (p.Leu12Pro)
|
rs1829096574
|
|
NM_001114753.3(ENG):c.360+1G>A
|
rs886039505
|
|
NM_001114753.3(ENG):c.360+4A>G
|
rs1564457752
|
|
NM_001114753.3(ENG):c.360+5G>A
|
rs1060501417
|
|
NM_001114753.3(ENG):c.370del (p.Leu124fs)
|
rs1830624241
|
|
NM_001114753.3(ENG):c.39del (p.Leu14fs)
|
rs1829096531
|
|
NM_001114753.3(ENG):c.496del (p.Gln166fs)
|
rs1830620247
|
|
NM_001114753.3(ENG):c.496dup (p.Gln166fs)
|
rs1830620247
|
|
NM_001114753.3(ENG):c.497A>C (p.Gln166Pro)
|
rs994887264
|
|
NM_001114753.3(ENG):c.503TCC[4] (p.Leu170_Arg171insLeu)
|
rs1830619692
|
|
NM_001114753.3(ENG):c.511C>T (p.Arg171Ter)
|
rs1554810490
|
|
NM_001114753.3(ENG):c.523+229_991+123del
|
|
|
NM_001114753.3(ENG):c.523G>T (p.Ala175Ser)
|
rs1588583488
|
|
NM_001114753.3(ENG):c.524-1_689+1del
|
rs1830595697
|
|
NM_001114753.3(ENG):c.620G>A (p.Cys207Tyr)
|
rs1830599119
|
|
NM_001114753.3(ENG):c.63dup (p.Thr22fs)
|
rs1829096099
|
|
NM_001114753.3(ENG):c.646A>G (p.Lys216Glu)
|
rs1830597676
|
|
NM_001114753.3(ENG):c.667dup (p.Val223fs)
|
rs1588582666
|
|
NM_001114753.3(ENG):c.68-4227_219+104del
|
|
|
NM_001114753.3(ENG):c.689+1G>A
|
rs1588582594
|
|
NM_001114753.3(ENG):c.690-2A>G
|
rs1564455970
|
|
NM_001114753.3(ENG):c.736del (p.Asp246fs)
|
rs1554810249
|
|
NM_001114753.3(ENG):c.761_767dup (p.Pro257fs)
|
rs1830580607
|
|
NM_001114753.3(ENG):c.763G>T (p.Gly255Cys)
|
rs1830580925
|
|
NM_001114753.3(ENG):c.772del (p.Tyr258fs)
|
rs1830580093
|
|
NM_001114753.3(ENG):c.774C>A (p.Tyr258Ter)
|
rs537154767
|
|
NM_001114753.3(ENG):c.776T>G (p.Val259Gly)
|
rs895393705
|
|
NM_001114753.3(ENG):c.777_778dup (p.Ser260fs)
|
rs1830579577
|
|
NM_001114753.3(ENG):c.817-1G>A
|
rs1564455715
|
|
NM_001114753.3(ENG):c.896T>G (p.Leu299Arg)
|
rs1830569662
|
|
NM_001114753.3(ENG):c.899T>C (p.Leu300Pro)
|
rs1335718486
|
|
NM_001114753.3(ENG):c.899_901delinsC (p.Leu300fs)
|
rs1830569401
|
|
NM_001114753.3(ENG):c.923C>A (p.Ala308Asp)
|
rs1482440395
|
|
NM_001114753.3(ENG):c.967_968del (p.Val323fs)
|
rs1830566817
|
|
NM_001114753.3(ENG):c.991G>A (p.Gly331Ser)
|
rs1060501410
|
|
NM_001114753.3(ENG):c.992-2A>G
|
rs1588580932
|
|
Single allele
|
|
|