| Mutation cDNA |
Mutation protein |
| -49T>C | |
| 1A>C | M1L |
| 5C>T | A2V |
| 7G>C | A3P |
| 8C>T | A3V |
| 65C>T | A22V |
| 69C>G | S23R |
| 71C>T | P24L |
| 76A>T | M26L |
| 214A>G | I72V |
| 240A>C | E80D |
| 261T>G | D87E |
| 298C>G | P100A |
| 340T>C | Y114H |
| 421C>T | R141W |
| 445C>G | R194G |
| 502G>A | V168I |
| 569G>A | R190Q |
| 578C>T | R190X |
| 580C>T | R194C |
| 618C>A | 206-218del |
| 643G>C | D215H |
| 674T>C | M225T |
| 701+1G>G/A | intron 6 |
| 725C>T | T242I |
| 731C>T | T244I |
| 736 A>G | K246E |
| 774_778insG | A260GfsX24 |
| 802G>A | D268N |
| 802G>C | D268H |
| 889_891dupAAT | |
| 907C>T | R303C |
| 910T>G | C304G |
| 926G>A | R309H |
| 926G>G/A | intron 9 |
| 931C>G | L311V |
| 947T>C | M316Y |
| 953C>T | P318L |
| 1009C>T | R337X |
| 1027G>A | E343K |
| 1052T>C | I351T |
| 1090G>A | V364M |
| 1107A>C | I369L |
| 1120C>T | R374W |
| 1128G>C | E376D |
| 1165A>G | M389V |
| 1186C>T | R396C |
| 1187G>A | R396H |
| 1191+5G>C | splice |
| 1253G>C | G418A |
| 1264G>T | D422Y |
| 1267C>G | L423V |
| 1277G>A | R426H |
| 1288G>A | D430N |
| 1304C>T | P435L |
| 1312T>C | S438P |
| 1339T>C | S447P |
| 1342T>C | S448P |
| 1343_1345delCTT | S448del |
| 1349C>G | T450S |
| 134G>A | W45* |
| 1355G>C | R452P |
| 1387-1389delGAG | E463- |
| 1400C>G | P467R |
| IVS12+1/G>C | splice site exon 12 |
| S395R | |
| N297S | |
| R149G | |
| W175C | |
| D332H |