6543991 |
c.1162C>T |
p.P388S |
Chr.2:
225582579-225582579
on Build GRCh38
|
3578346 |
c.1314C>T |
p.S438S |
Chr.2:
225582731-225582731
on Build GRCh38
|
4776215 |
c.1381C>A |
p.H461N |
Chr.2:
225582798-225582798
on Build GRCh38
|
4463157 |
c.1279C>T |
p.H427Y |
Chr.2:
225582696-225582696
on Build GRCh38
|
6498263 |
c.1587C>T |
p.S529S |
Chr.2:
225583004-225583004
on Build GRCh38
|
1614453 |
c.1583C>T |
p.S528L |
Chr.2:
225583000-225583000
on Build GRCh38
|
3407624 |
c.1386G>A |
p.S462S |
Chr.2:
225582803-225582803
on Build GRCh38
|
4092030 |
c.1267A>G |
p.T423A |
Chr.2:
225582684-225582684
on Build GRCh38
|
7328473 |
c.1274C>A |
p.S425Y |
Chr.2:
225582691-225582691
on Build GRCh38
|
4523234 |
c.1204G>A |
p.G402R |
Chr.2:
225582621-225582621
on Build GRCh38
|
4092034 |
c.1486G>A |
p.G496R |
Chr.2:
225582903-225582903
on Build GRCh38
|
6157254 |
c.1530G>A |
p.P510P |
Chr.2:
225582947-225582947
on Build GRCh38
|
3046831 |
c.1238C>T |
p.S413L |
Chr.2:
225582655-225582655
on Build GRCh38
|
4624620 |
c.1564C>A |
p.R522S |
Chr.2:
225582981-225582981
on Build GRCh38
|
4399837 |
c.1236G>C |
p.S412S |
Chr.2:
225582653-225582653
on Build GRCh38
|
7380845 |
c.1270C>G |
p.Q424E |
Chr.2:
225582687-225582687
on Build GRCh38
|
1405906 |
c.1256C>T |
p.T419M |
Chr.2:
225582673-225582673
on Build GRCh38
|
1017256 |
c.1529C>T |
p.P510L |
Chr.2:
225582946-225582946
on Build GRCh38
|
3046843 |
c.1513C>T |
p.R505W |
Chr.2:
225582930-225582930
on Build GRCh38
|
1405910 |
c.1470C>T |
p.A490A |
Chr.2:
225582887-225582887
on Build GRCh38
|
3909718 |
c.1551C>T |
p.L517L |
Chr.2:
225582968-225582968
on Build GRCh38
|
6476129 |
c.1471G>A |
p.A491T |
Chr.2:
225582888-225582888
on Build GRCh38
|
4708891 |
c.1240delC |
p.P415fs*32 |
Chr.2:
225582657-225582657
on Build GRCh38
|
4462096 |
c.1232C>T |
p.S411F |
Chr.2:
225582649-225582649
on Build GRCh38
|
3938959 |
c.1146G>A |
p.T382T |
Chr.2:
225582563-225582563
on Build GRCh38
|
6269110 |
c.1251G>T |
p.P417P |
Chr.2:
225582668-225582668
on Build GRCh38
|
4708895 |
c.1440G>A |
p.V480V |
Chr.2:
225582857-225582857
on Build GRCh38
|
4466339 |
c.1429C>T |
p.P477S |
Chr.2:
225582846-225582846
on Build GRCh38
|
6010682 |
c.1263C>T |
p.Y421Y |
Chr.2:
225582680-225582680
on Build GRCh38
|
3578345 |
c.1287C>T |
p.Y429Y |
Chr.2:
225582704-225582704
on Build GRCh38
|
477003 |
c.1393C>G |
p.L465V |
Chr.2:
225582810-225582810
on Build GRCh38
|
3391542 |
c.1393C>A |
p.L465I |
Chr.2:
225582810-225582810
on Build GRCh38
|
720475 |
c.1443G>C |
p.S481S |
Chr.2:
225582860-225582860
on Build GRCh38
|
1614452 |
c.1366C>A |
p.P456T |
Chr.2:
225582783-225582783
on Build GRCh38
|
5899872 |
c.1315C>T |
p.P439S |
Chr.2:
225582732-225582732
on Build GRCh38
|
1255724 |
c.1357A>T |
p.R453W |
Chr.2:
225582774-225582774
on Build GRCh38
|
3578349 |
c.1417C>T |
p.P473S |
Chr.2:
225582834-225582834
on Build GRCh38
|
4880955 |
c.1472C>T |
p.A491V |
Chr.2:
225582889-225582889
on Build GRCh38
|
7320506 |
c.1169A>T |
p.H390L |
Chr.2:
225582586-225582586
on Build GRCh38
|
4092029 |
c.1137G>A |
p.S379S |
Chr.2:
225582554-225582554
on Build GRCh38
|
3046830 |
c.1205G>T |
p.G402V |
Chr.2:
225582622-225582622
on Build GRCh38
|
4612130 |
c.1493delC |
p.P499fs*16 |
Chr.2:
225582910-225582910
on Build GRCh38
|
4092033 |
c.1443G>A |
p.S481S |
Chr.2:
225582860-225582860
on Build GRCh38
|
5631298 |
c.1244C>A |
p.P415Q |
Chr.2:
225582661-225582661
on Build GRCh38
|
7380848 |
c.1196C>G |
p.A399G |
Chr.2:
225582613-225582613
on Build GRCh38
|
3046841 |
c.1497G>T |
p.P499P |
Chr.2:
225582914-225582914
on Build GRCh38
|
4133522 |
c.1247C>A |
p.P416H |
Chr.2:
225582664-225582664
on Build GRCh38
|
6197674 |
c.1134G>A |
p.A378A |
Chr.2:
225582551-225582551
on Build GRCh38
|
3798691 |
c.1507C>T |
p.R503W |
Chr.2:
225582924-225582924
on Build GRCh38
|
4708890 |
c.1236G>A |
p.S412S |
Chr.2:
225582653-225582653
on Build GRCh38
|
258609 |
c.1375G>A |
p.A459T |
Chr.2:
225582792-225582792
on Build GRCh38
|
1017255 |
c.1437C>T |
p.P479P |
Chr.2:
225582854-225582854
on Build GRCh38
|
4708894 |
c.1389C>T |
p.G463G |
Chr.2:
225582806-225582806
on Build GRCh38
|
6440352 |
c.1451G>A |
p.G484E |
Chr.2:
225582868-225582868
on Build GRCh38
|
3909717 |
c.1328G>A |
p.G443E |
Chr.2:
225582745-225582745
on Build GRCh38
|
1405909 |
c.1468G>A |
p.A490T |
Chr.2:
225582885-225582885
on Build GRCh38
|
477002 |
c.1392_1393CC>AG |
p.S464>? |
Chr.2:
225582809-225582810
on Build GRCh38
|
275715 |
c.1385C>T |
p.S462L |
Chr.2:
225582802-225582802
on Build GRCh38
|
6267614 |
c.1584G>T |
p.S528S |
Chr.2:
225583001-225583001
on Build GRCh38
|
4465949 |
c.1409C>G |
p.P470R |
Chr.2:
225582826-225582826
on Build GRCh38
|
297690 |
c.1227G>A |
p.A409A |
Chr.2:
225582644-225582644
on Build GRCh38
|
6543993 |
c.1430C>T |
p.P477L |
Chr.2:
225582847-225582847
on Build GRCh38
|
397710 |
c.1310C>T |
p.P437L |
Chr.2:
225582727-225582727
on Build GRCh38
|
7276087 |
c.1577G>A |
p.R526H |
Chr.2:
225582994-225582994
on Build GRCh38
|
123946 |
c.1404C>A |
p.S468R |
Chr.2:
225582821-225582821
on Build GRCh38
|
5461027 |
c.1257G>A |
p.T419T |
Chr.2:
225582674-225582674
on Build GRCh38
|
3578344 |
c.1258C>T |
p.L420L |
Chr.2:
225582675-225582675
on Build GRCh38
|
1614451 |
c.1365C>A |
p.P455P |
Chr.2:
225582782-225582782
on Build GRCh38
|
3578348 |
c.1343C>T |
p.P448L |
Chr.2:
225582760-225582760
on Build GRCh38
|
5518380 |
c.1554_1556delCTC |
p.S520delS |
Chr.2:
225582971-225582973
on Build GRCh38
|
4528772 |
c.1562G>A |
p.G521D |
Chr.2:
225582979-225582979
on Build GRCh38
|
3046828 |
c.1195G>A |
p.A399T |
Chr.2:
225582612-225582612
on Build GRCh38
|
6732016 |
c.1424C>T |
p.S475L |
Chr.2:
225582841-225582841
on Build GRCh38
|
210222 |
c.1318G>A |
p.V440I |
Chr.2:
225582735-225582735
on Build GRCh38
|
4092032 |
c.1438G>A |
p.V480M |
Chr.2:
225582855-225582855
on Build GRCh38
|
5354407 |
c.1485C>T |
p.Y495Y |
Chr.2:
225582902-225582902
on Build GRCh38
|
4634748 |
c.1112A>G |
p.Y371C |
Chr.2:
225582529-225582529
on Build GRCh38
|
3046839 |
c.1496C>T |
p.P499L |
Chr.2:
225582913-225582913
on Build GRCh38
|
225503 |
c.1441T>G |
p.S481A |
Chr.2:
225582858-225582858
on Build GRCh38
|
4133521 |
c.1242C>A |
p.P414P |
Chr.2:
225582659-225582659
on Build GRCh38
|
7420123 |
c.1483T>A |
p.Y495N |
Chr.2:
225582900-225582900
on Build GRCh38
|
5681891 |
c.1326delG |
p.R444fs*3 |
Chr.2:
225582743-225582743
on Build GRCh38
|
5396356 |
c.1235C>T |
p.S412L |
Chr.2:
225582652-225582652
on Build GRCh38
|
6871808 |
c.1569C>T |
p.S523S |
Chr.2:
225582986-225582986
on Build GRCh38
|
4708893 |
c.1371C>T |
p.Y457Y |
Chr.2:
225582788-225582788
on Build GRCh38
|
4403123 |
c.1276C>T |
p.P426S |
Chr.2:
225582693-225582693
on Build GRCh38
|
3909716 |
c.1116G>A |
p.M372I |
Chr.2:
225582533-225582533
on Build GRCh38
|
1405908 |
c.1412C>T |
p.S471L |
Chr.2:
225582829-225582829
on Build GRCh38
|
5734900 |
c.1264C>T |
p.R422* |
Chr.2:
225582681-225582681
on Build GRCh38
|
1212209 |
c.1159G>A |
p.V387I |
Chr.2:
225582576-225582576
on Build GRCh38
|
3578343 |
c.1150C>T |
p.P384S |
Chr.2:
225582567-225582567
on Build GRCh38
|
5449647 |
c.1119A>G |
p.K373K |
Chr.2:
225582536-225582536
on Build GRCh38
|
477001 |
c.1392C>A |
p.S464R |
Chr.2:
225582809-225582809
on Build GRCh38
|
5938914 |
c.1366C>T |
p.P456S |
Chr.2:
225582783-225582783
on Build GRCh38
|
3578347 |
c.1316C>T |
p.P439L |
Chr.2:
225582733-225582733
on Build GRCh38
|
6543992 |
c.1358G>T |
p.R453M |
Chr.2:
225582775-225582775
on Build GRCh38
|
4465058 |
c.1365C>T |
p.P455P |
Chr.2:
225582782-225582782
on Build GRCh38
|
3962455 |
c.1326G>C |
p.M442I |
Chr.2:
225582743-225582743
on Build GRCh38
|
1565023 |
c.1152G>A |
p.P384P |
Chr.2:
225582569-225582569
on Build GRCh38
|
1255726 |
c.1277C>T |
p.P426L |
Chr.2:
225582694-225582694
on Build GRCh38
|
6157255 |
c.1328G>T |
p.G443V |
Chr.2:
225582745-225582745
on Build GRCh38
|
4523348 |
c.1210G>A |
p.A404T |
Chr.2:
225582627-225582627
on Build GRCh38
|
6090735 |
c.1158C>T |
p.H386H |
Chr.2:
225582575-225582575
on Build GRCh38
|
5058714 |
c.1198G>A |
p.A400T |
Chr.2:
225582615-225582615
on Build GRCh38
|
210220 |
c.1133C>T |
p.A378V |
Chr.2:
225582550-225582550
on Build GRCh38
|
4092031 |
c.1294A>G |
p.S432G |
Chr.2:
225582711-225582711
on Build GRCh38
|
7420122 |
c.1298A>T |
p.H433L |
Chr.2:
225582715-225582715
on Build GRCh38
|
3046833 |
c.1265G>A |
p.R422Q |
Chr.2:
225582682-225582682
on Build GRCh38
|
4128178 |
c.1172C>T |
p.A391V |
Chr.2:
225582589-225582589
on Build GRCh38
|
1405907 |
c.1372G>A |
p.D458N |
Chr.2:
225582789-225582789
on Build GRCh38
|
6732023 |
c.1128C>T |
p.A376A |
Chr.2:
225582545-225582545
on Build GRCh38
|
3046847 |
c.1560C>T |
p.S520S |
Chr.2:
225582977-225582977
on Build GRCh38
|
4390195 |
c.1204G>C |
p.G402R |
Chr.2:
225582621-225582621
on Build GRCh38
|
7198148 |
c.1196C>T |
p.A399V |
Chr.2:
225582613-225582613
on Build GRCh38
|
4708892 |
c.1280A>G |
p.H427R |
Chr.2:
225582697-225582697
on Build GRCh38
|
7087214 |
c.1464C>T |
p.V488V |
Chr.2:
225582881-225582881
on Build GRCh38
|
321214 |
c.1564C>T |
p.R522C |
Chr.2:
225582981-225582981
on Build GRCh38
|
272860 |
c.1508G>A |
p.R503Q |
Chr.2:
225582925-225582925
on Build GRCh38
|