6690441 |
c.1550A>G |
p.K517R |
Chr.1:
110673260-110673260
on Build GRCh38
|
5006948 |
c.1193T>C |
p.L398P |
Chr.1:
110673617-110673617
on Build GRCh38
|
893709 |
c.1340A>G |
p.Y447C |
Chr.1:
110673470-110673470
on Build GRCh38
|
5843037 |
c.1270C>T |
p.P424S |
Chr.1:
110673540-110673540
on Build GRCh38
|
4962012 |
c.1341C>T |
p.Y447Y |
Chr.1:
110673469-110673469
on Build GRCh38
|
6690439 |
c.1503C>T |
p.H501H |
Chr.1:
110673307-110673307
on Build GRCh38
|
893707 |
c.1356A>G |
p.P452P |
Chr.1:
110673454-110673454
on Build GRCh38
|
5832231 |
c.1328_1329insTT |
p.T444fs*1 |
Chr.1:
110673481-110673482
on Build GRCh38
|
1211400 |
c.1546C>T |
p.R516* |
Chr.1:
110673264-110673264
on Build GRCh38
|
4923819 |
c.1225G>T |
p.V409F |
Chr.1:
110673585-110673585
on Build GRCh38
|
2118852 |
c.1189G>T |
p.E397* |
Chr.1:
110673621-110673621
on Build GRCh38
|
893705 |
c.1453T>G |
p.Y485D |
Chr.1:
110673357-110673357
on Build GRCh38
|
3471102 |
c.1189G>A |
p.E397K |
Chr.1:
110673621-110673621
on Build GRCh38
|
893703 |
c.1565C>T |
p.S522L |
Chr.1:
110673245-110673245
on Build GRCh38
|
2118844 |
c.1431C>T |
p.P477P |
Chr.1:
110673379-110673379
on Build GRCh38
|
2118841 |
c.1504G>T |
p.V502L |
Chr.1:
110673306-110673306
on Build GRCh38
|
2118835 |
c.1607delG |
p.G536fs*2 |
Chr.1:
110673203-110673203
on Build GRCh38
|
282066 |
c.1596C>T |
p.I532I |
Chr.1:
110673214-110673214
on Build GRCh38
|
7372961 |
c.1641C>G |
p.F547L |
Chr.1:
110673169-110673169
on Build GRCh38
|
6487210 |
c.1622C>A |
p.A541D |
Chr.1:
110673188-110673188
on Build GRCh38
|
5629014 |
c.1532C>T |
p.S511L |
Chr.1:
110673278-110673278
on Build GRCh38
|
4633247 |
c.1313C>T |
p.A438V |
Chr.1:
110673497-110673497
on Build GRCh38
|
7191743 |
c.1559G>T |
p.S520I |
Chr.1:
110673251-110673251
on Build GRCh38
|
4020544 |
c.1179G>A |
p.A393A |
Chr.1:
110673631-110673631
on Build GRCh38
|
5477424 |
c.1653T>G |
p.N551K |
Chr.1:
110673157-110673157
on Build GRCh38
|
4020542 |
c.1322C>G |
p.T441S |
Chr.1:
110673488-110673488
on Build GRCh38
|
4617073 |
c.1296G>A |
p.P432P |
Chr.1:
110673514-110673514
on Build GRCh38
|
6045250 |
c.1266C>T |
p.D422D |
Chr.1:
110673544-110673544
on Build GRCh38
|
226456 |
c.1387C>G |
p.L463V |
Chr.1:
110673423-110673423
on Build GRCh38
|
1581099 |
c.1195G>A |
p.G399R |
Chr.1:
110673615-110673615
on Build GRCh38
|
4461580 |
c.1212C>T |
p.F404F |
Chr.1:
110673598-110673598
on Build GRCh38
|
6892136 |
c.1311G>A |
p.W437* |
Chr.1:
110673499-110673499
on Build GRCh38
|
5377162 |
c.1540G>A |
p.E514K |
Chr.1:
110673270-110673270
on Build GRCh38
|
1497782 |
c.1242C>T |
p.S414S |
Chr.1:
110673568-110673568
on Build GRCh38
|
3862177 |
c.1230C>T |
p.I410I |
Chr.1:
110673580-110673580
on Build GRCh38
|
4393264 |
c.1208T>G |
p.F403C |
Chr.1:
110673602-110673602
on Build GRCh38
|
674394 |
c.1628C>T |
p.P543L |
Chr.1:
110673182-110673182
on Build GRCh38
|
5902224 |
c.1655C>T |
p.S552F |
Chr.1:
110673155-110673155
on Build GRCh38
|
674392 |
c.1162G>C |
p.G388R |
Chr.1:
110673648-110673648
on Build GRCh38
|
3801238 |
c.1566G>A |
p.S522S |
Chr.1:
110673244-110673244
on Build GRCh38
|
3788420 |
c.1173G>C |
p.L391L |
Chr.1:
110673637-110673637
on Build GRCh38
|
5843036 |
c.1606G>A |
p.G536S |
Chr.1:
110673204-110673204
on Build GRCh38
|
893708 |
c.1345G>A |
p.D449N |
Chr.1:
110673465-110673465
on Build GRCh38
|
5024185 |
c.1465C>T |
p.R489W |
Chr.1:
110673345-110673345
on Build GRCh38
|
3718384 |
c.1626C>T |
p.F542F |
Chr.1:
110673184-110673184
on Build GRCh38
|
893706 |
c.1398C>T |
p.I466I |
Chr.1:
110673412-110673412
on Build GRCh38
|
347923 |
c.1572G>C |
p.L524L |
Chr.1:
110673238-110673238
on Build GRCh38
|
893704 |
c.1453T>C |
p.Y485H |
Chr.1:
110673357-110673357
on Build GRCh38
|
2118846 |
c.1397T>C |
p.I466T |
Chr.1:
110673413-110673413
on Build GRCh38
|
893702 |
c.1621G>A |
p.A541T |
Chr.1:
110673189-110673189
on Build GRCh38
|
2118842 |
c.1489T>G |
p.S497A |
Chr.1:
110673321-110673321
on Build GRCh38
|
4901708 |
c.1612A>G |
p.N538D |
Chr.1:
110673198-110673198
on Build GRCh38
|
2118840 |
c.1509A>C |
p.G503G |
Chr.1:
110673301-110673301
on Build GRCh38
|
2118833 |
c.1646C>T |
p.T549M |
Chr.1:
110673164-110673164
on Build GRCh38
|
75071 |
c.1402G>A |
p.G468S |
Chr.1:
110673408-110673408
on Build GRCh38
|
7316623 |
c.1173G>A |
p.L391L |
Chr.1:
110673637-110673637
on Build GRCh38
|
6540740 |
c.1490C>A |
p.S497Y |
Chr.1:
110673320-110673320
on Build GRCh38
|
7252099 |
c.1341C>A |
p.Y447* |
Chr.1:
110673469-110673469
on Build GRCh38
|
5603830 |
c.1632G>A |
p.Q544Q |
Chr.1:
110673178-110673178
on Build GRCh38
|
4020545 |
c.1161C>T |
p.L387L |
Chr.1:
110673649-110673649
on Build GRCh38
|
275634 |
c.1411A>G |
p.T471A |
Chr.1:
110673399-110673399
on Build GRCh38
|
4020543 |
c.1295C>T |
p.P432L |
Chr.1:
110673515-110673515
on Build GRCh38
|
168480 |
c.1244C>T |
p.A415V |
Chr.1:
110673566-110673566
on Build GRCh38
|
1667801 |
c.1597G>A |
p.E533K |
Chr.1:
110673213-110673213
on Build GRCh38
|
5460741 |
c.1186C>T |
p.R396W |
Chr.1:
110673624-110673624
on Build GRCh38
|
4020541 |
c.1344C>T |
p.G448G |
Chr.1:
110673466-110673466
on Build GRCh38
|
257200 |
c.1429C>T |
p.P477S |
Chr.1:
110673381-110673381
on Build GRCh38
|
4629693 |
c.1169C>T |
p.T390M |
Chr.1:
110673641-110673641
on Build GRCh38
|
7093850 |
c.1387C>A |
p.L463I |
Chr.1:
110673423-110673423
on Build GRCh38
|
249160 |
c.1271C>T |
p.P424L |
Chr.1:
110673539-110673539
on Build GRCh38
|
1581098 |
c.1652A>G |
p.N551S |
Chr.1:
110673158-110673158
on Build GRCh38
|
5377163 |
c.1539G>A |
p.E513E |
Chr.1:
110673271-110673271
on Build GRCh38
|
240288 |
c.1525T>A |
p.S509T |
Chr.1:
110673285-110673285
on Build GRCh38
|
3862176 |
c.1656C>T |
p.S552S |
Chr.1:
110673154-110673154
on Build GRCh38
|
4469813 |
c.1620C>T |
p.S540S |
Chr.1:
110673190-110673190
on Build GRCh38
|
674393 |
c.1264G>A |
p.D422N |
Chr.1:
110673546-110673546
on Build GRCh38
|
5911376 |
c.1582G>A |
p.E528K |
Chr.1:
110673228-110673228
on Build GRCh38
|
4419079 |
c.1362C>A |
p.T454T |
Chr.1:
110673448-110673448
on Build GRCh38
|
527432 |
c.1290C>T |
p.S430S |
Chr.1:
110673520-110673520
on Build GRCh38
|
5034221 |
c.1442C>T |
p.S481F |
Chr.1:
110673368-110673368
on Build GRCh38
|
5892595 |
c.1611G>A |
p.M537I |
Chr.1:
110673199-110673199
on Build GRCh38
|