| Mutation (NM_004960.3) | Predicted protein change | Mutation alias | |
|---|---|---|---|
| Exon 1 | c.52C>T | p.P18S | P18S |
| Exon 2 | c.101G>A | p.G34E | G34E |
| Exon 3 | c.170_172delCTT | p.S57del | S57del |
| Exon 3 | c.217C>T | p.Q73X | Q73X |
| Exon 4 | c.287_291delCCTACinsAT | p.S96del | S96del |
| Exon 5 | c.430_447delGGAAAGCTAT | p.G144_Y149del | G144_Y149del |
| Exon 5 | c.467G>A | p.G156E | G156E |
| Exon 5 | c.518_523delGAGGTG | p.G174_G175del | G174_G175del |
| Exon 5 | c.523_524_insGAGGTG | p.G175_G176ins | G175_G176ins |
| Exon 5 | c.559G>A | p.G187S | G187S |
| Exon 5 | c.571G>A | p.G191S | G191S |
| Exon 6 | c.616G>A | p.G206S | G206S |
| Exon 6 | c.646C>T | p.R216C | R216C |
| Exon 6 | c.674G>T | p.G225V | G225V |
| Exon 6 | c.700C>T | p.R234C | R234C |
| Exon 6 | c.701G>T | p.R234L | R234L |
| Exon 6 | c.730C>T | p.R244C | R244C |
| Exon 6 | c.734G>T | p.G245V | G245V |
| Exon 6 | c.760A>G | p.M254V | M254V |
| Exon 7 | c.868C>T | p.Q290X | Q290X |
| Exon 10 | c.1022_1023delTT | p.F341X | F341X |
| Exon 10 | c.1196G>T | p.G399V | G399V |
| Exon 11 | c.1204_1232delinsGGAGGTGGAGG | p.S402_P411delins | S402_P411delins |
| Exon 13 | c.1385C>T | p.S462F | S462F |
| Exon 13 | c.1392G>T | p.M464I | M464I |
| Exon 13 | c.1394-2del | ||
| Exon 13 | c.1394-1G>T | ||
| Exon 13 | c.1394_1541delCTACCGGGGCCGCGGCGGGGACCGTGGGGCTTCCGAGGG | p.G466VfsX14 | G466fs |
| Exon 13 | c.1420_1421insGT | p.G472VfsX57 | G472fs |
| Exon 13 | c.1432_1478del | p.G478LfsX23 | G478fs |
| Exon 13 | c.1449_1488del | p.Y485AfsX514 | Y485fs |
| Exon 13 | c.1459C>T | p.R487C | R487C |
| Exon 14 | c.1475delG | p.G492EfsX527 | G492fs |
| Exon 14 | c.1483delC | p.R495EfsX527 | R495fs (1483delC) |
| Exon 14 | c.1483C>T | p.R495X | R495X |
| Exon 14 | c.1484delG | p.R495QfsX34 | R495fs (1484delG) |
| Exon 14 | c.1490delA | p.G497AfsX527 | G497fs |
| Exon 14 | c.1504del | p.D502TfsX27 | D502fs (1504del) |
| Exon 14 | c.1504_1505delGA | p.D502QfsX14 | D502fs (1504_1505delGA) |
| Exon 14 | c.1509dupA | p.R503?fs? | R503fs |
| Exon 14 | c.1509_1510dup | p.G504EfsX26 | G504fs |
| Exon 14 | c.1510dupG | p.G505WfsX12 | G505fs |
| Exon 14 | c.1510_1514dupGGTGG | p.F506VfsX25 | F506fs |
| Exon 14 | c.1520G>A | p.G507D | G507D |
| Exon 14 | c.1526G>A | p.G509D | G509D |
| Exon 14 | c.1527_1528insTGCC | p.K510WfsX517 | K510fs |
| Exon 14 | c.1528A>C | p.K510Q | K510Q |
| Exon 14 | c.1528A>G | p.K510E | K510E |
| Exon 14 | c.1529A>G | p.K510R | K510R |
| Exon 14 | c.1529A>T | p.K510M | K510M |
| Exon 14 | c.1537T>C | p.S513P | S513P |
| Exon 14 | c.1540A>G | p.R514G | R514G |
| Exon 14 | c.1540A>T | p.R514W | R514W |
| Exon 14 | c.1542G>C | p.R514S | R514S |
| Exon 14 | c.1543G>T | p.G515C | G515C |
| Exon 14 | c.1547A>T | p.E516V | E516V |
| Exon 14 | c.1549C>G | p.H517D | H517D |
| Exon 14 | c.1550A>C | p.H517P | H517P |
| Exon 14 | c.1550A>G | p.H517R | H517R |
| Exon 14 | c.1551C>G | p.H517Q | H517Q |
| Exon 14 | c.1552A>G | p.R518G | R518G |
| Exon 14 | c.1553G>A | p.R518K | R518K |
| Exon 14 | c.1554_1557delACAG | p.R518del | R518del |
| Exon 14 | c.1555C>T | p.Q519X | Q519X |
| Exon 14 | c.1561C>A | p.R521S | R521S |
| Exon 14 | c.1561C>G | p.R521G | R521G |
| Exon 14 | c.1561C>T | p.R521C | R521C |
| Exon 14 | c.1562G>A | p.R521H | R521H |
| Exon 14 | c.1562G>T | p.R521L | R521L |
| Exon 14 | c.1564A>G | p.R522G | R522G |
| Exon 14 | c.1570A>T | p.R524W | R524W |
| Exon 14 | c.1571G>C | p.R524T | R524T |
| Exon 14 | c.1571G>T | p.R524M | R524M |
| Exon 14 | c.1572G>C | p.R524S | R524S |
| Exon 14 | c.1574C>T | p.P525L | P525L |
| Exon 14 | c.1577A>G | p.Y526C | Y526C |
| Exon 14 | c.1581delA | p.X527YextX | X527YextX |
