126597 |
c.1175C>G |
p.S392* |
Chr.2:
201285137-201285137
on Build GRCh38
|
4568783 |
c.1317T>A |
p.Y439* |
Chr.2:
201285153-201285153
on Build GRCh38
|
1014876 |
c.1235A>C |
p.K412T |
Chr.2:
201285071-201285071
on Build GRCh38
|
3576305 |
c.1262G>A |
p.G421E |
Chr.2:
201285098-201285098
on Build GRCh38
|
7345524 |
c.1211_1212delCA |
p.P405fs*8 |
Chr.2:
201285173-201285174
on Build GRCh38
|
5973537 |
c.1357C>T |
p.P453S |
Chr.2:
201285193-201285193
on Build GRCh38
|
3713592 |
c.1123C>G |
p.Q375E |
Chr.2:
201285085-201285085
on Build GRCh38
|
4308567 |
c.1105C>T |
p.P369S |
Chr.2:
201285067-201285067
on Build GRCh38
|
6934450 |
c.1259_1260insG |
p.D422fs*2 |
Chr.2:
201285095-201285096
on Build GRCh38
|
1669662 |
c.1216C>T |
p.Q406* |
Chr.2:
201285178-201285178
on Build GRCh38
|
4308565 |
c.1231C>T |
p.P411S |
Chr.2:
201285067-201285067
on Build GRCh38
|
6948372 |
c.1243G>A |
p.D415N |
Chr.2:
201285205-201285205
on Build GRCh38
|
1014875 |
c.1106C>A |
p.P369H |
Chr.2:
201285068-201285068
on Build GRCh38
|
6090075 |
c.1064C>G |
p.S355C |
Chr.2:
201285026-201285026
on Build GRCh38
|
4669387 |
c.1049T>G |
p.I350S |
Chr.2:
201285011-201285011
on Build GRCh38
|
5660035 |
c.1376T>C |
p.L459P |
Chr.2:
201285212-201285212
on Build GRCh38
|
6975300 |
c.1379T>C |
p.L460P |
Chr.2:
201285215-201285215
on Build GRCh38
|
6913175 |
c.1234_1235delAA |
p.K412fs*11 |
Chr.2:
201285070-201285071
on Build GRCh38
|
243491 |
c.1214C>A |
p.P405H |
Chr.2:
201285050-201285050
on Build GRCh38
|
7152785 |
c.1176C>G |
p.I392M |
Chr.2:
201285012-201285012
on Build GRCh38
|
14010 |
c.1213C>T |
p.P405S |
Chr.2:
201285175-201285175
on Build GRCh38
|
6937071 |
c.1243G>T |
p.D415Y |
Chr.2:
201285205-201285205
on Build GRCh38
|
252967 |
c.1114delT |
p.F373fs*26 |
Chr.2:
201285076-201285076
on Build GRCh38
|
3355726 |
c.1274_1275insT |
p.C426fs*30 |
Chr.2:
201285236-201285237
on Build GRCh38
|
3798502 |
c.1192C>T |
p.Q398* |
Chr.2:
201285028-201285028
on Build GRCh38
|
1014878 |
c.1321G>T |
p.E441* |
Chr.2:
201285157-201285157
on Build GRCh38
|
6940292 |
c.1244T>G |
p.F415C |
Chr.2:
201285080-201285080
on Build GRCh38
|
6934452 |
c.1133_1134insG |
p.D380fs*2 |
Chr.2:
201285095-201285096
on Build GRCh38
|
6959119 |
c.1123_1127CAGGC>TAGGT |
p.Q375_A376>* |
Chr.2:
201285085-201285089
on Build GRCh38
|
5953982 |
c.1202_1203insT |
p.L402fs*22 |
Chr.2:
201285038-201285039
on Build GRCh38
|
5953984 |
c.1076_1077insT |
p.L360fs*22 |
Chr.2:
201285038-201285039
on Build GRCh38
|
4462723 |
c.1132C>T |
p.Q378* |
Chr.2:
201285094-201285094
on Build GRCh38
|
121069 |
c.1208C>G |
p.S403* |
Chr.2:
201285170-201285170
on Build GRCh38
|
6937069 |
c.1369G>T |
p.D457Y |
Chr.2:
201285205-201285205
on Build GRCh38
|
3713595 |
c.1232C>T |
p.P411L |
Chr.2:
201285194-201285194
on Build GRCh38
|
7343892 |
c.1052A>G |
p.Y351C |
Chr.2:
201285014-201285014
on Build GRCh38
|
4462721 |
c.1258C>T |
p.Q420* |
Chr.2:
201285094-201285094
on Build GRCh38
|
1199655 |
c.1036C>T |
p.Q346* |
Chr.2:
201284998-201284998
on Build GRCh38
|
6958729 |
c.1235A>G |
p.K412R |
Chr.2:
201285071-201285071
on Build GRCh38
|
2907147 |
c.1261G>A |
p.A421T |
Chr.2:
201285223-201285223
on Build GRCh38
|
4884872 |
c.1123C>T |
p.Q375* |
Chr.2:
201285085-201285085
on Build GRCh38
|
6976993 |
c.1334C>G |
p.S445* |
Chr.2:
201285170-201285170
on Build GRCh38
|
5660037 |
c.1250T>C |
p.L417P |
Chr.2:
201285212-201285212
on Build GRCh38
|
3576307 |
c.1136G>A |
p.G379E |
Chr.2:
201285098-201285098
on Build GRCh38
|
3718876 |
c.1402_1403delTG |
p.V469fs*28 |
Chr.2:
201285238-201285239
on Build GRCh38
|
1014877 |
c.1109A>C |
p.K370T |
Chr.2:
201285071-201285071
on Build GRCh38
|
6913177 |
c.1108_1109delAA |
p.K370fs*11 |
Chr.2:
201285070-201285071
on Build GRCh38
|
4881102 |
c.1334C>T |
p.S445L |
Chr.2:
201285170-201285170
on Build GRCh38
|
1404462 |
c.1239_1240insT |
p.I416fs*8 |
Chr.2:
201285075-201285076
on Build GRCh38
|
4669390 |
c.1131T>A |
p.C377* |
Chr.2:
201285093-201285093
on Build GRCh38
|
6946507 |
c.1243_1246delTTTA |
p.I416fs*24 |
Chr.2:
201285079-201285082
on Build GRCh38
|
6971015 |
c.1403G>A |
p.C468Y |
Chr.2:
201285239-201285239
on Build GRCh38
|
3713587 |
c.1219C>T |
p.L407F |
Chr.2:
201285055-201285055
on Build GRCh38
|
6008982 |
c.1124A>G |
p.Q375R |
Chr.2:
201285086-201285086
on Build GRCh38
|
7331421 |
c.1047C>A |
p.P349P |
Chr.2:
201285009-201285009
on Build GRCh38
|
6941091 |
c.1214C>T |
p.P405L |
Chr.2:
201285176-201285176
on Build GRCh38
|
1404464 |
c.1113_1114insT |
p.I374fs*8 |
Chr.2:
201285075-201285076
on Build GRCh38
|
231953 |
c.1234G>A |
p.D412N |
Chr.2:
201285196-201285196
on Build GRCh38
|
5025008 |
c.1373T>C |
p.F458S |
Chr.2:
201285209-201285209
on Build GRCh38
|
6906096 |
c.1244A>T |
p.D415V |
Chr.2:
201285206-201285206
on Build GRCh38
|
3731389 |
c.1043delC |
p.I350fs*4 |
Chr.2:
201285005-201285005
on Build GRCh38
|
1669660 |
c.1342C>T |
p.Q448* |
Chr.2:
201285178-201285178
on Build GRCh38
|
5973539 |
c.1231C>T |
p.P411S |
Chr.2:
201285193-201285193
on Build GRCh38
|
7285443 |
c.1088C>T |
p.P363L |
Chr.2:
201285050-201285050
on Build GRCh38
|
3724364 |
c.1087_1089delCCT |
p.P363delP |
Chr.2:
201285049-201285051
on Build GRCh38
|
1014880 |
c.1347G>A |
p.T449T |
Chr.2:
201285183-201285183
on Build GRCh38
|
4523259 |
c.1080G>A |
p.L360L |
Chr.2:
201285042-201285042
on Build GRCh38
|
3357543 |
c.1312C>A |
p.P438T |
Chr.2:
201285148-201285148
on Build GRCh38
|
7359564 |
c.1273C>T |
p.Q425* |
Chr.2:
201285109-201285109
on Build GRCh38
|
4465616 |
c.1265C>T |
p.T422I |
Chr.2:
201285227-201285227
on Build GRCh38
|
6982637 |
c.1348A>G |
p.R450G |
Chr.2:
201285184-201285184
on Build GRCh38
|
2907145 |
c.1387G>A |
p.A463T |
Chr.2:
201285223-201285223
on Build GRCh38
|
7152786 |
c.1050C>G |
p.I350M |
Chr.2:
201285012-201285012
on Build GRCh38
|
3731387 |
c.1169delC |
p.I392fs*4 |
Chr.2:
201285005-201285005
on Build GRCh38
|
4465614 |
c.1391C>T |
p.T464I |
Chr.2:
201285227-201285227
on Build GRCh38
|
1404465 |
c.1301C>T |
p.S434L |
Chr.2:
201285137-201285137
on Build GRCh38
|
6975302 |
c.1253T>C |
p.L418P |
Chr.2:
201285215-201285215
on Build GRCh38
|
7331420 |
c.1173C>A |
p.P391P |
Chr.2:
201285009-201285009
on Build GRCh38
|
3724362 |
c.1213_1215delCCT |
p.P405delP |
Chr.2:
201285049-201285051
on Build GRCh38
|
6943744 |
c.1114T>C |
p.F372L |
Chr.2:
201285076-201285076
on Build GRCh38
|
6948370 |
c.1369G>A |
p.D457N |
Chr.2:
201285205-201285205
on Build GRCh38
|
6977146 |
c.1193A>G |
p.Q398R |
Chr.2:
201285029-201285029
on Build GRCh38
|
1014879 |
c.1195G>T |
p.E399* |
Chr.2:
201285157-201285157
on Build GRCh38
|
4669385 |
c.1175T>G |
p.I392S |
Chr.2:
201285011-201285011
on Build GRCh38
|
1404467 |
c.1175C>T |
p.S392L |
Chr.2:
201285137-201285137
on Build GRCh38
|
5524711 |
c.1327G>A |
p.D443N |
Chr.2:
201285163-201285163
on Build GRCh38
|
7285442 |
c.1214C>T |
p.P405L |
Chr.2:
201285050-201285050
on Build GRCh38
|
7359565 |
c.1147C>T |
p.Q383* |
Chr.2:
201285109-201285109
on Build GRCh38
|
6920418 |
c.1236A>C |
p.K412N |
Chr.2:
201285072-201285072
on Build GRCh38
|
6090073 |
c.1190C>G |
p.S397C |
Chr.2:
201285026-201285026
on Build GRCh38
|
3713590 |
c.1249C>G |
p.Q417E |
Chr.2:
201285085-201285085
on Build GRCh38
|
3355742 |
c.1276_1277delTG |
p.V427fs*28 |
Chr.2:
201285238-201285239
on Build GRCh38
|
6907264 |
c.1220C>T |
p.T407M |
Chr.2:
201285182-201285182
on Build GRCh38
|
4568785 |
c.1191T>A |
p.Y397* |
Chr.2:
201285153-201285153
on Build GRCh38
|
6941089 |
c.1340C>T |
p.P447L |
Chr.2:
201285176-201285176
on Build GRCh38
|
243490 |
c.1088C>A |
p.P363H |
Chr.2:
201285050-201285050
on Build GRCh38
|
5025010 |
c.1247T>C |
p.F416S |
Chr.2:
201285209-201285209
on Build GRCh38
|
3355738 |
c.1149G>T |
p.Q383H |
Chr.2:
201285111-201285111
on Build GRCh38
|
6912652 |
c.1304A>T |
p.E435V |
Chr.2:
201285140-201285140
on Build GRCh38
|
1014874 |
c.1232C>A |
p.P411H |
Chr.2:
201285068-201285068
on Build GRCh38
|
4523257 |
c.1206G>A |
p.L402L |
Chr.2:
201285042-201285042
on Build GRCh38
|
6958731 |
c.1109A>G |
p.K370R |
Chr.2:
201285071-201285071
on Build GRCh38
|
94008 |
c.1080G>C |
p.L360F |
Chr.2:
201285042-201285042
on Build GRCh38
|
6959117 |
c.1249_1253CAGGC>TAGGT |
p.Q417_A418>* |
Chr.2:
201285085-201285089
on Build GRCh38
|
6982639 |
c.1222A>G |
p.R408G |
Chr.2:
201285184-201285184
on Build GRCh38
|
7264101 |
c.1232C>A |
p.P411Q |
Chr.2:
201285194-201285194
on Build GRCh38
|
6920420 |
c.1110A>C |
p.K370N |
Chr.2:
201285072-201285072
on Build GRCh38
|
1014881 |
c.1221G>A |
p.T407T |
Chr.2:
201285183-201285183
on Build GRCh38
|
159758 |
c.1066C>T |
p.Q356* |
Chr.2:
201285028-201285028
on Build GRCh38
|
4884870 |
c.1249C>T |
p.Q417* |
Chr.2:
201285085-201285085
on Build GRCh38
|
4881104 |
c.1208C>T |
p.S403L |
Chr.2:
201285170-201285170
on Build GRCh38
|
6946509 |
c.1117_1120delTTTA |
p.I374fs*24 |
Chr.2:
201285079-201285082
on Build GRCh38
|
6977148 |
c.1067A>G |
p.Q356R |
Chr.2:
201285029-201285029
on Build GRCh38
|
3713589 |
c.1093C>T |
p.L365F |
Chr.2:
201285055-201285055
on Build GRCh38
|
6912654 |
c.1178A>T |
p.E393V |
Chr.2:
201285140-201285140
on Build GRCh38
|
4669388 |
c.1257T>A |
p.C419* |
Chr.2:
201285093-201285093
on Build GRCh38
|
5524713 |
c.1201G>A |
p.D401N |
Chr.2:
201285163-201285163
on Build GRCh38
|
6971017 |
c.1277G>A |
p.C426Y |
Chr.2:
201285239-201285239
on Build GRCh38
|
252968 |
c.1240delT |
p.F415fs*26 |
Chr.2:
201285076-201285076
on Build GRCh38
|
1199653 |
c.1162C>T |
p.Q388* |
Chr.2:
201284998-201284998
on Build GRCh38
|
6943742 |
c.1240T>C |
p.F414L |
Chr.2:
201285076-201285076
on Build GRCh38
|
6940294 |
c.1118T>G |
p.F373C |
Chr.2:
201285080-201285080
on Build GRCh38
|
231954 |
c.1360G>A |
p.D454N |
Chr.2:
201285196-201285196
on Build GRCh38
|
3357545 |
c.1186C>A |
p.P396T |
Chr.2:
201285148-201285148
on Build GRCh38
|
3713593 |
c.1358C>T |
p.P453L |
Chr.2:
201285194-201285194
on Build GRCh38
|
7264100 |
c.1358C>A |
p.P453Q |
Chr.2:
201285194-201285194
on Build GRCh38
|
6854404 |
c.1104A>G |
p.K368K |
Chr.2:
201285066-201285066
on Build GRCh38
|
14009 |
c.1064C>T |
p.S355F |
Chr.2:
201285026-201285026
on Build GRCh38
|
719791 |
c.1301C>G |
p.S434* |
Chr.2:
201285137-201285137
on Build GRCh38
|
6008980 |
c.1250A>G |
p.Q417R |
Chr.2:
201285086-201285086
on Build GRCh38
|