Exon | Nucleotide change (cDNA, NM_000070) | Amino acid change (protein, NP_000061) | HE* | CHE† | HO‡ | HO families |
---|---|---|---|---|---|---|
The new mutations are indicated in bold (*heterozygous; †compound heterozygous; ‡homozygous). | ||||||
1 | 77C→T | P26L | 1 | – | – | |
139_141del | I47del | – | – | 3 | (2) | |
143G→A | S48N | 1 | – | – | ||
146G→A | R49H | – | 2 | – | ||
229G→A | D77N | 2 | 3 | – | ||
245C→T | P82L | 2 | 2 | 1 | (1) | |
247_251del | D83_E84delfs+2X5 | – | 2 | – | ||
259C→G | L87V | 1 | – | – | ||
304C→T | P102S | – | 1 | – | ||
308C→T | P103L | 1 | 0 | 0 | ||
2 | 319G→A | E107K | 1 | – | – | |
328C→T | R110X | 2 | 2 | – | ||
3 | 398C→T | A133V | – | 2 | – | |
479C→G | A160G | 1 | – | – | ||
498+1G→A | Splicing | – | 1 | – | ||
4 | 533T→C | I178T | – | – | 1 | (1) |
548C→G | P183R | – | 1 | – | ||
550delA | T184fs+1X35 | 2 | 19 | 12 | (10) | |
590G→A | R197H | – | 2 | – | ||
598_612del | F200_L204del | 1 | 6 | – | ||
620A→C | K207T | – | 1 | – | ||
5 | 633G→T | K211N | 1 | – | – | |
649G→A | E217K | – | 1 | – | ||
664G→A | G222R | – | 1 | – | ||
674C→G | T225R | – | 1 | – | ||
689A→G | D230G | – | – | 1 | (1) | |
697G→C | G233R | – | 1 | – | ||
701G→A | G234E | – | 1 | – | ||
739G→A | D247N | 1 | – | – | ||
755T→C | M252T | 1 | – | – | ||
755T→A | M252K | – | 2 | – | ||
759_761del | K254del | – | 1 | – | ||
801+1G→A | Splicing | – | 2 | – | ||
6 | 802–9G→A | Splicing | – | 6 | 2 | (1) |
848T→C | M283T | – | – | 1 | (1) | |
883_886delGATAinsCTT | D295delfs+1X55 | – | – | 4 | (1) | |
7 | 956C→T | P319L | – | 1 | – | |
964T→C | Y322H | 1 | – | – | ||
967G→T | E323X | – | 1 | 1 | (1) | |
1000C→T | H334Y | – | 1 | – | ||
1001_1002insA | H334fs–2X8 | – | – | 1 | (1) | |
8 | 1058T→C | L353P | 1 | – | – | |
1061T→C | V354A | – | 1 | – | ||
1061T→G | V354G | – | 1 | – | ||
10 | 1291G→A | V431M | 1 | – | – | |
1303G→A | E435K | 1 | 1 | – | ||
1309C→T | R437C | – | 2 | 1 | (1) | |
1342C→T | R448C | 1 | – | 1 | (1) | |
1343G→A | R448H | – | 2 | – | ||
11 | 1401_1403del | E467del | 1 | 3 | – | |
1448C→A | A483D | – | 1 | – | ||
1465C→T | R489W | – | 2 | – | ||
1468C→T | R490W | – | 1 | – | ||
1469G→A | R490Q | – | 1 | 1 | (1) | |
1477C→G | R493G | – | 1 | – | ||
13 | 1611C→A | Y537X | – | 1 | – | |
1621C→T | R541W | – | 6 | 1 | (1) | |
1622G→A | R541Q | – | 7 | – | ||
1706T→C | F569S | 1 | – | – | ||
1714C→T | R572W | – | 1 | – | ||
1715G→C | R572P | 1 | – | – | ||
1745+1G→A | Splicing | – | – | 1 | (1) | |
14 | 1746–20C→G | Splicing | 2 | 3 | – | |
15 | 1792_1795del | K598_T599delfs+1X62 | 1 | 3 | – | |
16 | 1817C→T | S606L | – | 1 | – | |
1865delAG | E622fs+2X7 | – | 2 | – | ||
1868_1877del | E623_G626delfs+1X34 | – | 1 | – | ||
17 | 1917_1922del | Q640_P641del | 1 | – | – | |
1984G→T | A662S | 1 | – | – | ||
1992+1G→T | Splicing | – | 3 | – | ||
18 | 2020_2022del | K674del | – | 1 | – | |
19 | 2105C→T | A702V | 1 | – | 1 | (1) |
20 | 2184G→A | Q728Q (splicing) | 1 | – | 2 | (1) |
21 | 2204_2205del | T736fs+2X27 | – | 1 | – | |
2212C→T | Q738X | – | – | 4 | (1) | |
2242C→T | R748X | 2 | 9 | 3 | (3) | |
2243G→A | R748Q | 1 | – | – | ||
2257delGinsAA | D753fs–2X10 | – | 1 | – | ||
2257G→A | D753N | 1 | 3 | – | ||
22 | 2330T→C | I777T | – | 1 | – | |
2335T→A | F779I | 1 | – | – | ||
24 | 2440–9_–6del | Splicing | – | 1 | – |