4841200 |
c.446G>T |
p.R149I |
Chr.5:
144207160-144207160
on Build GRCh38
|
6489559 |
c.502G>T |
p.V168L |
Chr.5:
144207216-144207216
on Build GRCh38
|
3852347 |
c.597C>A |
p.S199S |
Chr.5:
144207311-144207311
on Build GRCh38
|
334624 |
c.607G>C |
p.E203Q |
Chr.5:
144207321-144207321
on Build GRCh38
|
3852349 |
c.832+1G>A |
p.? |
Chr.5:
144207547-144207547
on Build GRCh38
|
1255463 |
c.533G>T |
p.R178I |
Chr.5:
144207247-144207247
on Build GRCh38
|
3209770 |
c.458C>T |
p.P153L |
Chr.5:
144207172-144207172
on Build GRCh38
|
3715017 |
c.644C>G |
p.P215R |
Chr.5:
144207358-144207358
on Build GRCh38
|
1130853 |
c.650G>A |
p.R217Q |
Chr.5:
144207364-144207364
on Build GRCh38
|
5561897 |
c.656C>A |
p.P219Q |
Chr.5:
144207370-144207370
on Build GRCh38
|
4762237 |
c.606A>C |
p.K202N |
Chr.5:
144207320-144207320
on Build GRCh38
|
3209774 |
c.627G>T |
p.L209F |
Chr.5:
144207341-144207341
on Build GRCh38
|
1162361 |
c.518C>T |
p.S173F |
Chr.5:
144207232-144207232
on Build GRCh38
|
379984 |
c.544G>C |
p.A182P |
Chr.5:
144207258-144207258
on Build GRCh38
|
6169722 |
c.743T>G |
p.V248G |
Chr.5:
144207457-144207457
on Build GRCh38
|
5533150 |
c.512G>A |
p.R171K |
Chr.5:
144207226-144207226
on Build GRCh38
|
1063687 |
c.766G>T |
p.A256S |
Chr.5:
144207480-144207480
on Build GRCh38
|
4625460 |
c.560G>A |
p.R187Q |
Chr.5:
144207274-144207274
on Build GRCh38
|
5551672 |
c.480C>A |
p.D160E |
Chr.5:
144207194-144207194
on Build GRCh38
|
736536 |
c.736C>A |
p.H246N |
Chr.5:
144207450-144207450
on Build GRCh38
|
3674338 |
c.832C>G |
p.R278G |
Chr.5:
144207546-144207546
on Build GRCh38
|
205500 |
c.559C>T |
p.R187W |
Chr.5:
144207273-144207273
on Build GRCh38
|
1063683 |
c.607G>T |
p.E203* |
Chr.5:
144207321-144207321
on Build GRCh38
|
7111209 |
c.412G>T |
p.D138Y |
Chr.5:
144207126-144207126
on Build GRCh38
|
6102477 |
c.563G>T |
p.R188I |
Chr.5:
144207277-144207277
on Build GRCh38
|
312232 |
c.610G>T |
p.V204F |
Chr.5:
144207324-144207324
on Build GRCh38
|
4553471 |
c.591G>A |
p.R197R |
Chr.5:
144207305-144207305
on Build GRCh38
|
1063685 |
c.649C>T |
p.R217* |
Chr.5:
144207363-144207363
on Build GRCh38
|
7190905 |
c.819A>G |
p.E273E |
Chr.5:
144207533-144207533
on Build GRCh38
|
3611881 |
c.596C>T |
p.S199F |
Chr.5:
144207310-144207310
on Build GRCh38
|
6867542 |
c.597C>T |
p.S199S |
Chr.5:
144207311-144207311
on Build GRCh38
|
1696460 |
c.631G>A |
p.E211K |
Chr.5:
144207345-144207345
on Build GRCh38
|
1063682 |
c.537G>T |
p.E179D |
Chr.5:
144207251-144207251
on Build GRCh38
|
4517945 |
c.471_472CC>TT |
p.P158S |
Chr.5:
144207185-144207186
on Build GRCh38
|
420854 |
c.509A>G |
p.Y170C |
Chr.5:
144207223-144207223
on Build GRCh38
|
3611879 |
c.418G>A |
p.E140K |
Chr.5:
144207132-144207132
on Build GRCh38
|
5356726 |
c.745G>A |
p.A249T |
Chr.5:
144207459-144207459
on Build GRCh38
|
590405 |
c.425C>A |
p.A142D |
Chr.5:
144207139-144207139
on Build GRCh38
|
405212 |
c.390delC |
p.P131fs*79 |
Chr.5:
144207104-144207104
on Build GRCh38
|
4939916 |
c.410G>A |
p.S137N |
Chr.5:
144207124-144207124
on Build GRCh38
|
6546737 |
c.809G>T |
p.S270I |
Chr.5:
144207523-144207523
on Build GRCh38
|
5803363 |
c.646G>T |
p.D216Y |
Chr.5:
144207360-144207360
on Build GRCh38
|
3852348 |
c.652G>A |
p.A218T |
Chr.5:
144207366-144207366
on Build GRCh38
|
1310808 |
c.724G>A |
p.E242K |
Chr.5:
144207438-144207438
on Build GRCh38
|
6493858 |
c.723delA |
p.E242fs*13 |
Chr.5:
144207437-144207437
on Build GRCh38
|
116119 |
c.572G>A |
p.R191Q |
Chr.5:
144207286-144207286
on Build GRCh38
|
3209766 |
c.351C>G |
p.D117E |
Chr.5:
144207065-144207065
on Build GRCh38
|
4694796 |
c.426C>A |
p.A142A |
Chr.5:
144207140-144207140
on Build GRCh38
|
3852346 |
c.448A>C |
p.I150L |
Chr.5:
144207162-144207162
on Build GRCh38
|
4762236 |
c.415T>G |
p.F139V |
Chr.5:
144207129-144207129
on Build GRCh38
|
6356375 |
c.452G>A |
p.C151Y |
Chr.5:
144207166-144207166
on Build GRCh38
|
3209773 |
c.566T>C |
p.V189A |
Chr.5:
144207280-144207280
on Build GRCh38
|
312233 |
c.635G>T |
p.S212I |
Chr.5:
144207349-144207349
on Build GRCh38
|
4557037 |
c.712G>A |
p.D238N |
Chr.5:
144207426-144207426
on Build GRCh38
|
106831 |
c.439G>A |
p.D147N |
Chr.5:
144207153-144207153
on Build GRCh38
|
7373294 |
c.724G>C |
p.E242Q |
Chr.5:
144207438-144207438
on Build GRCh38
|
1063684 |
c.619G>T |
p.E207* |
Chr.5:
144207333-144207333
on Build GRCh38
|
5447628 |
c.482G>A |
p.R161H |
Chr.5:
144207196-144207196
on Build GRCh38
|
7159040 |
c.690C>G |
p.F230L |
Chr.5:
144207404-144207404
on Build GRCh38
|
1063686 |
c.701A>G |
p.E234G |
Chr.5:
144207415-144207415
on Build GRCh38
|
5941976 |
c.428C>T |
p.S143F |
Chr.5:
144207142-144207142
on Build GRCh38
|
1696461 |
c.758C>T |
p.S253L |
Chr.5:
144207472-144207472
on Build GRCh38
|
3611880 |
c.495C>T |
p.F165F |
Chr.5:
144207209-144207209
on Build GRCh38
|
1725239 |
c.640G>T |
p.D214Y |
Chr.5:
144207354-144207354
on Build GRCh38
|
1063681 |
c.373G>A |
p.D125N |
Chr.5:
144207087-144207087
on Build GRCh38
|
5918681 |
c.704G>T |
p.R235M |
Chr.5:
144207418-144207418
on Build GRCh38
|
6692044 |
c.481C>T |
p.R161C |
Chr.5:
144207195-144207195
on Build GRCh38
|
50540 |
c.649C>G |
p.R217G |
Chr.5:
144207363-144207363
on Build GRCh38
|
4495012 |
c.443C>T |
p.T148I |
Chr.5:
144207157-144207157
on Build GRCh38
|
1696459 |
c.539G>A |
p.G180E |
Chr.5:
144207253-144207253
on Build GRCh38
|
5928691 |
c.671C>T |
p.S224F |
Chr.5:
144207385-144207385
on Build GRCh38
|
6692046 |
c.538G>T |
p.G180* |
Chr.5:
144207252-144207252
on Build GRCh38
|
1542412 |
c.438C>T |
p.S146S |
Chr.5:
144207152-144207152
on Build GRCh38
|
5799715 |
c.791A>T |
p.D264V |
Chr.5:
144207505-144207505
on Build GRCh38
|
3365897 |
c.562A>G |
p.R188G |
Chr.5:
144207276-144207276
on Build GRCh38
|
4936996 |
c.456C>T |
p.P152P |
Chr.5:
144207170-144207170
on Build GRCh38
|
6546736 |
c.560G>T |
p.R187L |
Chr.5:
144207274-144207274
on Build GRCh38
|