5627734 |
c.112G>T |
p.A38S |
Chr.1:
248180097-248180097
on Build GRCh38
|
236516 |
c.139C>T |
p.L47F |
Chr.1:
248180124-248180124
on Build GRCh38
|
71970 |
c.17A>G |
p.Q6R |
Chr.1:
248180002-248180002
on Build GRCh38
|
3487010 |
c.128C>T |
p.S43F |
Chr.1:
248180113-248180113
on Build GRCh38
|
6878189 |
c.304T>A |
p.F102I |
Chr.1:
248180289-248180289
on Build GRCh38
|
6062785 |
c.93C>A |
p.V31V |
Chr.1:
248180078-248180078
on Build GRCh38
|
3487006 |
c.56A>C |
p.N19T |
Chr.1:
248180041-248180041
on Build GRCh38
|
6542246 |
c.169A>T |
p.T57S |
Chr.1:
248180154-248180154
on Build GRCh38
|
375291 |
c.31G>T |
p.D11Y |
Chr.1:
248180016-248180016
on Build GRCh38
|
680474 |
c.126C>A |
p.N42K |
Chr.1:
248180111-248180111
on Build GRCh38
|
1260148 |
c.181T>G |
p.F61V |
Chr.1:
248180166-248180166
on Build GRCh38
|
4466733 |
c.144C>T |
p.L48L |
Chr.1:
248180129-248180129
on Build GRCh38
|
534253 |
c.232G>A |
p.V78I |
Chr.1:
248180217-248180217
on Build GRCh38
|
2233182 |
c.413C>A |
p.P138H |
Chr.1:
248180398-248180398
on Build GRCh38
|
3419047 |
c.392G>T |
p.R131I |
Chr.1:
248180377-248180377
on Build GRCh38
|
3727109 |
c.46G>A |
p.G16R |
Chr.1:
248180031-248180031
on Build GRCh38
|
680470 |
c.264C>A |
p.G88G |
Chr.1:
248180249-248180249
on Build GRCh38
|
1218607 |
c.233T>C |
p.V78A |
Chr.1:
248180218-248180218
on Build GRCh38
|
5046369 |
c.17A>T |
p.Q6L |
Chr.1:
248180002-248180002
on Build GRCh38
|
2233166 |
c.74C>T |
p.T25M |
Chr.1:
248180059-248180059
on Build GRCh38
|
322274 |
c.424G>T |
p.G142* |
Chr.1:
248180409-248180409
on Build GRCh38
|
364952 |
c.232G>T |
p.V78L |
Chr.1:
248180217-248180217
on Build GRCh38
|
907211 |
c.263G>T |
p.G88V |
Chr.1:
248180248-248180248
on Build GRCh38
|
6330202 |
c.192C>T |
p.S64S |
Chr.1:
248180177-248180177
on Build GRCh38
|
907207 |
c.30C>T |
p.S10S |
Chr.1:
248180015-248180015
on Build GRCh38
|
6288298 |
c.375T>C |
p.A125A |
Chr.1:
248180360-248180360
on Build GRCh38
|
7381365 |
c.60C>G |
p.H20Q |
Chr.1:
248180045-248180045
on Build GRCh38
|
1639793 |
c.303T>C |
p.I101I |
Chr.1:
248180288-248180288
on Build GRCh38
|
5705378 |
c.170delC |
p.M59fs*72 |
Chr.1:
248180155-248180155
on Build GRCh38
|
268271 |
c.163C>A |
p.L55I |
Chr.1:
248180148-248180148
on Build GRCh38
|
6125906 |
c.405C>T |
p.L135L |
Chr.1:
248180390-248180390
on Build GRCh38
|
5613986 |
c.349G>C |
p.V117L |
Chr.1:
248180334-248180334
on Build GRCh38
|
71972 |
c.432G>A |
p.M144I |
Chr.1:
248180417-248180417
on Build GRCh38
|
5469131 |
c.72C>T |
p.H24H |
Chr.1:
248180057-248180057
on Build GRCh38
|
6734198 |
c.209A>G |
p.D70G |
Chr.1:
248180194-248180194
on Build GRCh38
|
6062788 |
c.30C>A |
p.S10S |
Chr.1:
248180015-248180015
on Build GRCh38
|
3487009 |
c.122G>A |
p.G41E |
Chr.1:
248180107-248180107
on Build GRCh38
|
6846995 |
c.362A>G |
p.D121G |
Chr.1:
248180347-248180347
on Build GRCh38
|
4564007 |
c.9G>A |
p.W3* |
Chr.1:
248179994-248179994
on Build GRCh38
|
534251 |
c.434C>A |
p.A145D |
Chr.1:
248180419-248180419
on Build GRCh38
|
2233176 |
c.255C>A |
p.Y85* |
Chr.1:
248180240-248180240
on Build GRCh38
|
6062784 |
c.124A>T |
p.N42Y |
Chr.1:
248180109-248180109
on Build GRCh38
|
3487005 |
c.42C>T |
p.L14L |
Chr.1:
248180027-248180027
on Build GRCh38
|
6509040 |
c.252C>A |
p.N84K |
Chr.1:
248180237-248180237
on Build GRCh38
|
372595 |
c.120G>T |
p.M40I |
Chr.1:
248180105-248180105
on Build GRCh38
|
680473 |
c.141C>T |
p.L47L |
Chr.1:
248180126-248180126
on Build GRCh38
|
4420607 |
c.422G>T |
p.C141F |
Chr.1:
248180407-248180407
on Build GRCh38
|
907214 |
c.340C>A |
p.L114I |
Chr.1:
248180325-248180325
on Build GRCh38
|
5032615 |
c.102C>A |
p.I34I |
Chr.1:
248180087-248180087
on Build GRCh38
|
2233165 |
c.68C>A |
p.P23Q |
Chr.1:
248180053-248180053
on Build GRCh38
|
6460324 |
c.85T>C |
p.F29L |
Chr.1:
248180070-248180070
on Build GRCh38
|
680469 |
c.346G>C |
p.A116P |
Chr.1:
248180331-248180331
on Build GRCh38
|
907210 |
c.180C>A |
p.Y60* |
Chr.1:
248180165-248180165
on Build GRCh38
|
4974652 |
c.198G>T |
p.L66L |
Chr.1:
248180183-248180183
on Build GRCh38
|
313582 |
c.21C>A |
p.T7T |
Chr.1:
248180006-248180006
on Build GRCh38
|
6329733 |
c.231C>T |
p.T77T |
Chr.1:
248180216-248180216
on Build GRCh38
|
7420761 |
c.152T>C |
p.L51P |
Chr.1:
248180137-248180137
on Build GRCh38
|
1690140 |
c.287G>C |
p.G96A |
Chr.1:
248180272-248180272
on Build GRCh38
|
5846127 |
c.153_154delGG |
p.D52fs*59 |
Chr.1:
248180138-248180139
on Build GRCh38
|
6265645 |
c.4G>T |
p.A2S |
Chr.1:
248179989-248179989
on Build GRCh38
|
390012 |
c.47G>T |
p.G16V |
Chr.1:
248180032-248180032
on Build GRCh38
|
1560712 |
c.427C>T |
p.L143F |
Chr.1:
248180412-248180412
on Build GRCh38
|
5750639 |
c.91G>T |
p.V31F |
Chr.1:
248180076-248180076
on Build GRCh38
|
6125905 |
c.432G>T |
p.M144I |
Chr.1:
248180417-248180417
on Build GRCh38
|
3865098 |
c.381C>T |
p.C127C |
Chr.1:
248180366-248180366
on Build GRCh38
|
7197245 |
c.68C>T |
p.P23L |
Chr.1:
248180053-248180053
on Build GRCh38
|
5592256 |
c.306C>T |
p.F102F |
Chr.1:
248180291-248180291
on Build GRCh38
|
3487012 |
c.385C>T |
p.P129S |
Chr.1:
248180370-248180370
on Build GRCh38
|
6734201 |
c.75G>A |
p.T25T |
Chr.1:
248180060-248180060
on Build GRCh38
|
379550 |
c.160C>A |
p.Q54K |
Chr.1:
248180145-248180145
on Build GRCh38
|
7177247 |
c.79C>T |
p.L27F |
Chr.1:
248180064-248180064
on Build GRCh38
|
6062787 |
c.46G>T |
p.G16* |
Chr.1:
248180031-248180031
on Build GRCh38
|
3487008 |
c.117C>T |
p.F39F |
Chr.1:
248180102-248180102
on Build GRCh38
|
6568477 |
c.20delC |
p.F8fs*29 |
Chr.1:
248180005-248180005
on Build GRCh38
|
3771693 |
c.6A>G |
p.A2A |
Chr.1:
248179991-248179991
on Build GRCh38
|
680476 |
c.96G>C |
p.L32L |
Chr.1:
248180081-248180081
on Build GRCh38
|
4546829 |
c.408G>A |
p.M136I |
Chr.1:
248180393-248180393
on Build GRCh38
|
6062783 |
c.159C>G |
p.T53T |
Chr.1:
248180144-248180144
on Build GRCh38
|
680472 |
c.172C>A |
p.P58T |
Chr.1:
248180157-248180157
on Build GRCh38
|
5147097 |
c.7T>C |
p.W3R |
Chr.1:
248179992-248179992
on Build GRCh38
|
2233174 |
c.218T>C |
p.L73P |
Chr.1:
248180203-248180203
on Build GRCh38
|
6009950 |
c.36C>T |
p.F12F |
Chr.1:
248180021-248180021
on Build GRCh38
|
369768 |
c.327C>A |
p.G109G |
Chr.1:
248180312-248180312
on Build GRCh38
|
1165795 |
c.111G>T |
p.V37V |
Chr.1:
248180096-248180096
on Build GRCh38
|
907213 |
c.301A>T |
p.I101F |
Chr.1:
248180286-248180286
on Build GRCh38
|
2233161 |
c.8G>A |
p.W3* |
Chr.1:
248179993-248179993
on Build GRCh38
|
5025557 |
c.204C>T |
p.L68L |
Chr.1:
248180189-248180189
on Build GRCh38
|
313581 |
c.167A>T |
p.H56L |
Chr.1:
248180152-248180152
on Build GRCh38
|
6336542 |
c.45T>G |
p.L15L |
Chr.1:
248180030-248180030
on Build GRCh38
|
4030705 |
c.265A>G |
p.S89G |
Chr.1:
248180250-248180250
on Build GRCh38
|
907209 |
c.128C>A |
p.S43Y |
Chr.1:
248180113-248180113
on Build GRCh38
|
4829919 |
c.156C>A |
p.D52E |
Chr.1:
248180141-248180141
on Build GRCh38
|
5790157 |
c.272C>A |
p.S91Y |
Chr.1:
248180257-248180257
on Build GRCh38
|
300663 |
c.365G>A |
p.R122H |
Chr.1:
248180350-248180350
on Build GRCh38
|
6326091 |
c.156C>T |
p.D52D |
Chr.1:
248180141-248180141
on Build GRCh38
|
7420760 |
c.248T>C |
p.F83S |
Chr.1:
248180233-248180233
on Build GRCh38
|
276478 |
c.84C>A |
p.F28L |
Chr.1:
248180069-248180069
on Build GRCh38
|
3865097 |
c.24C>T |
p.F8F |
Chr.1:
248180009-248180009
on Build GRCh38
|
7381363 |
c.233T>A |
p.V78E |
Chr.1:
248180218-248180218
on Build GRCh38
|
1491999 |
c.171C>A |
p.T57T |
Chr.1:
248180156-248180156
on Build GRCh38
|
385819 |
c.39C>A |
p.I13I |
Chr.1:
248180024-248180024
on Build GRCh38
|
7297380 |
c.183C>A |
p.F61L |
Chr.1:
248180168-248180168
on Build GRCh38
|
4709799 |
c.211C>T |
p.L71F |
Chr.1:
248180196-248180196
on Build GRCh38
|
3789781 |
c.359A>G |
p.Y120C |
Chr.1:
248180344-248180344
on Build GRCh38
|
71971 |
c.62G>A |
p.S21N |
Chr.1:
248180047-248180047
on Build GRCh38
|
464314 |
c.103T>A |
p.F35I |
Chr.1:
248180088-248180088
on Build GRCh38
|
3487011 |
c.355G>T |
p.A119S |
Chr.1:
248180340-248180340
on Build GRCh38
|
7087573 |
c.388C>T |
p.L130L |
Chr.1:
248180373-248180373
on Build GRCh38
|
4577130 |
c.266G>A |
p.S89N |
Chr.1:
248180251-248180251
on Build GRCh38
|
1260153 |
c.427C>G |
p.L143V |
Chr.1:
248180412-248180412
on Build GRCh38
|
6062786 |
c.73A>T |
p.T25S |
Chr.1:
248180058-248180058
on Build GRCh38
|
3487007 |
c.84C>T |
p.F28F |
Chr.1:
248180069-248180069
on Build GRCh38
|
6528194 |
c.401A>C |
p.N134T |
Chr.1:
248180386-248180386
on Build GRCh38
|
3735391 |
c.424G>A |
p.G142R |
Chr.1:
248180409-248180409
on Build GRCh38
|
680475 |
c.109G>A |
p.V37M |
Chr.1:
248180094-248180094
on Build GRCh38
|
4542828 |
c.325G>A |
p.G109S |
Chr.1:
248180310-248180310
on Build GRCh38
|
2233169 |
c.158C>A |
p.T53N |
Chr.1:
248180143-248180143
on Build GRCh38
|
6062782 |
c.349G>A |
p.V117I |
Chr.1:
248180334-248180334
on Build GRCh38
|
369130 |
c.373G>A |
p.A125T |
Chr.1:
248180358-248180358
on Build GRCh38
|
680471 |
c.224G>T |
p.C75F |
Chr.1:
248180209-248180209
on Build GRCh38
|
907212 |
c.278C>A |
p.S93Y |
Chr.1:
248180263-248180263
on Build GRCh38
|
5016732 |
c.232delG |
p.V78fs*53 |
Chr.1:
248180217-248180217
on Build GRCh38
|
6331225 |
c.232G>C |
p.V78L |
Chr.1:
248180217-248180217
on Build GRCh38
|
109088 |
c.78C>T |
p.F26F |
Chr.1:
248180063-248180063
on Build GRCh38
|
907208 |
c.93C>T |
p.V31V |
Chr.1:
248180078-248180078
on Build GRCh38
|
5911449 |
c.4G>A |
p.A2T |
Chr.1:
248179989-248179989
on Build GRCh38
|
313580 |
c.243G>T |
p.M81I |
Chr.1:
248180228-248180228
on Build GRCh38
|
1663236 |
c.33C>A |
p.D11E |
Chr.1:
248180018-248180018
on Build GRCh38
|
287676 |
c.184C>T |
p.L62F |
Chr.1:
248180169-248180169
on Build GRCh38
|
6192256 |
c.61A>C |
p.S21R |
Chr.1:
248180046-248180046
on Build GRCh38
|
145720 |
c.315A>G |
p.I105M |
Chr.1:
248180300-248180300
on Build GRCh38
|
4709800 |
c.403C>A |
p.L135I |
Chr.1:
248180388-248180388
on Build GRCh38
|