EB患者突变数据库 EB patients mutation database
EB Patients Mutation List
| ID(show) | Subtype，类型和亚型 | Gene1 | Mutation1 | Gene2 | Mutation2 |
|---|---|---|---|---|---|
| 0358 | DDEB | COL7A1 | c.5659G>A | ||
| 0152 | DDEB | COL7A1 | c.5982-2A>G | ||
| 0225 | DDEB | COL7A1 | c.6082G>A | ||
| 0488 | DDEB | COL7A1 | c.6082G>A | ||
| 0491 | DDEB | COL7A1 | c.6127G>A | ||
| 0006 | DDEB | COL7A1 | c.6217G>A | ||
| 0589 | DDEB | COL7A1 | c.6752G>A | ||
| 0517 | DDEB | COL7A1 | c.8045A>G | ||
| 0099 | DDEB | COL7A1 | c.G4573A | ||
| 0083 | DDEB | COL7A1 | c.G7097T | ||
| 0503 | DDEB | COL7A1 | not specified | ||
| 0448 | DDEB Intermediate | COL7A1 | c.5265G>A | ||
| 0553 | DDEB Intermediate | COL7A1 | c.6007G>A | ||
| 0663 | DDEB intermediate | COL7A1 | c.6007G>A | ||
| 0741 | DDEB intermediate | COL7A1 | c.6007G>A | ||
| 0360 | DDEB Intermediate | COL7A1 | c.6017_6019del | ||
| 0446 | DDEB Intermediate | COL7A1 | c.6025G>A | ||
| 0565 | DDEB Intermediate | COL7A1 | c.6035G>A | ||
| 0690 | DDEB intermediate | COL7A1 | c.6083G>A | ||
| 0445 | DDEB Intermediate | COL7A1 | c.6127G>A | ||
| 0235 | DDEB Intermediate | COL7A1 | c.6128G>A | ||
| 0473 | DDEB Intermediate | COL7A1 | c.6209G>A | ||
| 0720 | DDEB intermediate | COL7A1 | c.6218G>A | ||
| 0025 | DDEB Intermediate | COL7A1 | c.6227G>A | ||
| 0826 | DDEB intermediate | COL7A1 | c.6899A>G | COL7A1 | c.3182C>T |
| 0226 | DDEB Intermediate | COL7A1 | c.7097G>C | ||
| 0790 | DDEB intermediate | COL7A1 | c.7877G>A | COL7A1 | c.6181-17C>T |
| 0615 | DDEB intermediate | COL7A1 | c.8147G>A | ||
| 0184 | DDEB Intermediate | COL7A1 | c.8165G>A | ||
| 0153 | DDEB Intermediate | COL7A1 | c.G6127A | ||
| 0682 | DDEB Localized | COL7A1 | c.4705G>A | ||
| 0712 | DDEB Localized | COL7A1 | c.5071G>C | ||
| 0159 | DDEB Localized | COL7A1 | c.5282G>A | ||
| 0567 | DDEB Localized | COL7A1 | c.5327G>A | ||
| 0103 | DDEB Localized | COL7A1 | c.5980-2A>G | ||
| 0018 | DDEB Localized | COL7A1 | c.6035G>A | ||
| 0185 | DDEB Localized | COL7A1 | c.6044G>A | ||
| 0727 | DDEB Localized | COL7A1 | c.6091G>C | ||
| 0329 | DDEB Localized | COL7A1 | c.6100G>A | ||
| 0402 | DDEB Localized | COL7A1 | c.6100G>A | ||
| 0738 | DDEB Localized | COL7A1 | c.6100G>A | ||
| 0750 | DDEB Localized | COL7A1 | c.6100G>A | ||
| 0031 | DDEB Localized | COL7A1 | c.6127G>A | ||
| 0067 | DDEB Localized | COL7A1 | c.6127G>A | ||
| 0650 | DDEB Localized | COL7A1 | c.6127G>A | ||
| 0694 | DDEB Localized | COL7A1 | c.6127G>A | ||
| 0718 | DDEB Localized | COL7A1 | c.6164G>A | ||
| 0672 | DDEB Localized | COL7A1 | c.6173G>A | ||
| 0739 | DDEB Localized | COL7A1 | c.6199G>A | ||
| 0713 | DDEB Localized | COL7A1 | c.6217G>A | ||
| 0815 | DDEB Localized | COL7A1 | c.6217G>C | ||
| 0670 | DDEB Localized | COL7A1 | c.6629G>A | ||
| 0580 | DDEB Localized | COL7A1 | c.7106G>A | ||
| 0714 | DDEB Localized | COL7A1 | c.7876G>C | ||
| 0353 | DDEB Localized | COL7A1 | c.G6127A | ||
| 0165 | DDEB Localized | COL7A1 | c.G6127A | ||
| 0772 | DDEB Localized | COL7A1 | Ex.62-76del | ||
| 0772 | DDEB Localized | COL7A1 | Ex.62-76del | ||
| 0772 | DDEB Localized | COL7A1 | Ex.62-76del | ||
| 0562 | DDEB Localized | COL7A1 | p.Gly2043Arg | ||
| 0231 | DDEB pruriginosa | COL7A1 | c.4573G>A | ||
| 0336 | DDEB pruriginosa | COL7A1 | c.5300G>A | ||
| 0591 | DDEB pruriginosa | COL7A1 | c.5318G>T | ||
| 0735 | DDEB pruriginosa | COL7A1 | c.6025G>A | ||
| 0375 | DDEB pruriginosa | COL7A1 | c.6082G>A | ||
| 0371 | DDEB pruriginosa | COL7A1 | c.6091G>C | ||
| 0581 | DDEB pruriginosa | COL7A1 | c.6127G>A | ||
| 0476 | DDEB pruriginosa | COL7A1 | c.6137G>A | ||
| 0773 | DDEB pruriginosa | COL7A1 | c.6236G>T | ||
| 0754 | DDEB pruriginosa | COL7A1 | c.6859G>A | ||
| 0699 | DDEB pruriginosa | COL7A1 | c.6900+1G>A | ||
| 0011 | DDEB pruriginosa | COL7A1 | c.6900+1G>C | ||
| 0243 | DDEB pruriginosa | COL7A1 | c.6900+3G>C | ||
| 0578 | DDEB pruriginosa | COL7A1 | c.7283G>A | ||
| 0036 | DDEB pruriginosa | COL7A1 | c.7428delG | ||
| 0809 | DDEB pruriginosa | COL7A1 | c.8045A>G | ||
| 0707 | DDEB pruriginosa | COL7A1 | c.8138G>T | ||
| 0579 | DDEB pruriginosa | COL7A1 | CNV | ||
| 0755 | DDEB pruriginosa | COL7A1 | Ex.19-52del | ||
| 0722 | DDEB pruriginosa | COL7A1 | intron 86 | ||
| 0662 | DDEB pruriginosa | COLA1 | c.7877G>A | ||
| 0323 | DDEB self-improving | COL7A1 | c.5000G>A | ||
| 0322 | DDEB self-improving | COL7A1 | c.5027G>A | ||
| 0676 | DDEB self-improving | COL7A1 | c.5990G>A | ||
| 0066 | DDEB self-improving | COL7A1 | c.6091G>A | ||
| 0466 | DDEB self-improving | COL7A1 | c.6091G>A | ||
| 0367 | DDEB self-improving | COL7A1 | c.6100G>A | ||
| 0623 | DDEB self-improving | COL7A1 | c.6100G>A | ||
| 0155 | DDEB self-improving | COL7A1 | c.6100G>A | ||
| 0324 | DDEB self-improving | COL7A1 | c.6163G>C | ||
| 0324 | DDEB self-improving | COL7A1 | c.6163G>C | ||
| 0224 | DDEB self-improving | COL7A1 | c.6769G>A | ||
| 0590 | DEB Dominant and Recessive | COL7A1 | c.6082G>A | COL7A1 | c.5308-2A>T |
| 0518 | DEB Dominant and Recessive | COL7A1 | c.6622G>T | COL7A1 | c.4039G>T |
| 0558 | DEB Dominant and Recessive | COL7A1 | c.6734G>A | COL7A1 | c.8779C>T |
| 0019 | DEB Dominant and Recessive | COL7A1 | c.8048G>A | COL7A1 | c.6386G>A |
| 0372 | DEB Dominant and Recessive | COL7A1 | c4935+1G>C | COL7A1 | c.4039G>A |
| 0634 | DEB Dominant and Recessive Localized | COL7A1 | c.6502-18_6502-17del | COL7A1 | c.6198_6199delins GGGAGAACG GGGAGAGAAAA |
| 0810 | DEB Dominant and Recessive Localized | COL7A1 | c.6900+4A>T | COL7A1 | c.589_591del |
| 0265 | DEB Dominant and Recessive Severe | COL7A1 | c.6190G>A | COL7A1 | c.3894+1G>A |
| 0633 | DEB Dominant and Recessive, pruriginosa | COL7A1 | c.5772+1G>A | COL7A1 | c.4012-29C>A |
| 0063 | EBS | KRT14 | c.1223T>A | ||
| 0588 | EBS | KRT14 | c.1258G>T | ||
| 0174 | EBS | KRT14 | c.373C>A | ||
| 0173 | EBS | KRT14 | c.374G>T | ||
| 0107 | EBS | KRT14 | c.383_385delCCT | ||
| 0139 | EBS | KRT5 | c.1400T>C | ||
| 0106 | EBS | KRT5 | c.1409dupA | ||
| 0093 | EBS | KRT5 | c.514A>T | ||
| 0068 | EBS | KRT5 | c.566G>T | ||
| 0121 | EBS | KRT5 | c.976T>C | ||
| 0789 | EBS | KRT5 | c.992G>A | KRT5 | c.992G>A |
| 0088 | EBS | KRT5 | c.G1423A | ||
| 0330 | EBS + JEB | KRT5 | c.536T>C | COL17A1 | c.4295+5G>C, c.39555G>A |
| 0626 | EBS intermediate | COL7A1 | c.8712_8713delinsAA | COL7A1 | c.1201del |
| 0781 | EBS intermediate | KRT14 | c.1084_1146dup | ||
| 0521 | EBS Intermediate | KRT14 | c.1105C>T | KRT14 | c.1105C>T |
| 0571 | EBS Intermediate | KRT14 | c.1131dup | ||
| 0811 | EBS intermediate | KRT14 | c.1228C>T | ||
| 0660 | EBS intermediate | KRT14 | c.1235T>G | ||
| 0511 | EBS Intermediate | KRT14 | c.1240A>C | ||
| 0433 | EBS Intermediate | KRT14 | c.1243T>G | ||
| 0233 | EBS Intermediate | KRT14 | c.1244_1253del | ||
| 0680 | EBS intermediate | KRT14 | c.356T>C | ||
| 0508 | EBS Intermediate | KRT14 | c.356T>G | ||
| 0765 | EBS intermediate | KRT14 | c.364C>T | ||
| 0475 | EBS Intermediate | KRT14 | c.365T>C | ||
| 0551 | EBS Intermediate | KRT14 | c.369T>G | ||
| 0635 | EBS intermediate | KRT14 | c.369T>G | ||
| 0641 | EBS intermediate | KRT14 | c.373C>A | ||
| 0002 | EBS Intermediate | KRT14 | c.373C>T | ||
| 0766 | EBS intermediate | KRT14 | c.373C>T | ||
| 0005 | EBS Intermediate | KRT14 | c.373C>T | ||
| 0007 | EBS Intermediate | KRT14 | c.373C>T | ||
| 0012 | EBS Intermediate | KRT14 | c.373C>T | ||
| 0530 | EBS Intermediate | KRT14 | c.373C>T | ||
| 0787 | EBS intermediate | KRT14 | c.373C>T | ||
| 0539 | EBS Intermediate | KRT14 | c.373C>T | ||
| 0796 | EBS intermediate | KRT14 | c.373C>T | ||
| 0290 | EBS Intermediate | KRT14 | c.373C>T | ||
| 0557 | EBS Intermediate | KRT14 | c.373C>T | ||
| 0817 | EBS intermediate | KRT14 | c.373C>T | ||
| 0057 | EBS Intermediate | KRT14 | c.373C>T | ||
| 0058 | EBS Intermediate | KRT14 | c.373C>T | ||
| 0570 | EBS Intermediate | KRT14 | c.373C>T | ||
| 0062 | EBS Intermediate | KRT14 | c.373C>T | ||
| 0572 | EBS Intermediate | KRT14 | c.373C>T | ||
| 0077 | EBS Intermediate | KRT14 | c.373C>T | ||
| 0593 | EBS intermediate | KRT14 | c.373C>T | ||
| 0087 | EBS Intermediate | KRT14 | c.373C>T | ||
| 0097 | EBS Intermediate | KRT14 | c.373C>T | ||
| 0610 | EBS intermediate | KRT14 | c.373C>T | ||
| 0120 | EBS Intermediate | KRT14 | c.373C>T | ||
| 0381 | EBS Intermediate | KRT14 | c.373C>T | ||
| 0130 | EBS Intermediate | KRT14 | c.373C>T | ||
| 0390 | EBS Intermediate | KRT14 | c.373C>T | ||
| 0424 | EBS Intermediate | KRT14 | c.373C>T | ||
| 0681 | EBS intermediate | KRT14 | c.373C>T | ||
| 0468 | EBS Intermediate | KRT14 | c.373C>T | ||
| 0469 | EBS Intermediate | KRT14 | c.373C>T | ||
| 0484 | EBS Intermediate | KRT14 | c.373C>T | ||
| 0288 | EBS Intermediate | KRT14 | c.374G>A | ||
| 0545 | EBS Intermediate | KRT14 | c.374G>A | ||
| 0368 | EBS Intermediate | KRT14 | c.374G>A | ||
| 0124 | EBS Intermediate | KRT14 | c.374G>A | ||
| 0170 | EBS Intermediate | KRT14 | c.374G>A | ||
| 0429 | EBS Intermediate | KRT14 | c.374G>A | ||
| 0442 | EBS Intermediate | KRT14 | c.374G>A | ||
| 0191 | EBS Intermediate | KRT14 | c.374G>A | ||
| 0455 | EBS Intermediate | KRT14 | c.374G>A | ||
| 0219 | EBS Intermediate | KRT14 | c.374G>A | ||
| 0494 | EBS Intermediate | KRT14 | c.374G>A | ||
| 0143 | EBS Intermediate | KRT14 | c.374G>T | ||
| 0487 | EBS Intermediate | KRT14 | c.374G>T | ||
| 0604 | EBS intermediate | KRT14 | c.376C>G | ||
| 0190 | EBS Intermediate | KRT14 | c.382T>C | ||
| 0646 | EBS intermediate | KRT14 | c.385T>G | ||
| 0422 | EBS Intermediate | KRT14 | c.386A>G | ||
| 0399 | EBS Intermediate | KRT14 | c.407T>C | ||
| 0556 | EBS Intermediate | KRT14 | c.413_415del | ||
| 0728 | EBS intermediate | KRT14 | c.442C>T | KRT5 | c.508G>A |
| 0216 | EBS Intermediate | KRT14 | c.730_750del | ||
| 0821 | EBS intermediate | KRT14 | c.863G>T | ||
| 0071 | EBS Intermediate | KRT14 | c.G1231A | ||
| 0443 | EBS Intermediate | KRT5 | c.1283C>A | ||
| 0500 | EBS Intermediate | KRT5 | c.1291A>G | ||
| 0730 | EBS intermediate | KRT5 | c.1400T>C | ||
| 0193 | EBS Intermediate | KRT5 | c.1401C>G | ||
| 0560 | EBS Intermediate | KRT5 | c.1405A>C | ||
| 0060 | EBS Intermediate | KRT5 | c.1409A>G | ||
| 0306 | EBS Intermediate | KRT5 | c.1437C>A | ||
| 0643 | EBS intermediate | KRT5 | c.1649del | ||
| 0472 | EBS Intermediate | KRT5 | c.449T>C | ||
| 0032 | EBS Intermediate | KRT5 | c.495G>T | ||
| 0438 | EBS Intermediate | KRT5 | c.508G>A | ||
| 0564 | EBS Intermediate | KRT5 | c.536T>C | ||
| 0300 | EBS Intermediate | KRT5 | c.555+1G>A | ||
| 0622 | EBS intermediate | KRT5 | c.555+1G>A | ||
| 0284 | EBS Intermediate | KRT5 | c.555+2T>A | ||
| 0134 | EBS Intermediate | KRT5 | c.555+2T>G | ||
| 0703 | EBS intermediate | KRT5 | c.556-1G>C | ||
| 0618 | EBS Intermediate | KRT5 | c.974T>C | ||
| 0799 | EBS intermediate | KRT5 | IVS+1G>A | ||
| 0704 | EBS intermediate | PLEC | c.11002G>A | PLEC | c.1912C>A |
| 0768 | EBS intermediate | PLEC | c.2135_2163+33del | PLEC | c.1226_1231del |
| 0746 | EBS intermediate | PLEC | c.3961G>T | PLEC | c.194-724C>T |
| 0549 | EBS Intermediate with cardiomyopathy | KLHL24 | c.1A>G | ||
| 0294 | EBS Intermediate with cardiomyopathy | KLHL24 | c.1A>G | ||
| 0559 | EBS Intermediate with cardiomyopathy | KLHL24 | c.1A>G | ||
| 0621 | EBS Intermediate with cardiomyopathy | KLHL24 | c.1A>G | ||
| 0151 | EBS Intermediate with cardiomyopathy | KLHL24 | c.1A>G | ||
| 0428 | EBS Intermediate with cardiomyopathy | KLHL24 | c.1A>G | ||
| 0293 | EBS Intermediate with cardiomyopathy | KLHL24 | c.3G>A | ||
| 0666 | EBS Intermediate with cardiomyopathy | KLHL24 | c.3G>C | ||
| 0614 | EBS Intermediate with cardiomyopathy | KLHL24 | c.7del | ||
| 0307 | EBS Intermediate with muscular dystrophy | PLEC | c.5545G>T | PLEC | c.979G>A |
| 0606 | EBS Intermediate with muscular dystrophy | PLEC | c.64G>T | PLEC | c.6037C>T |
| 0335 | EBS Intermediate with muscular dystrophy | PLEC | c.7591C>T | PLEC | c.6622C>T |
| 0197 | EBS Intermediate with muscular dystrophy | PLEC | c.7645G>T | PLEC | c.7645G>T |
| 0192 | EBS Intermediate with muscular dystrophy? | PLEC | c.4756C>T | PLEC | c.9842G>A |
| 0685 | EBS intermediate with PLEC mutation | PLEC | c.9559C>T | PLEC | c.194-813G>A |
| 0365 | EBS Localized | KRT14 | c.1250_1252dup | ||
| 0146 | EBS Localized | KRT14 | c.364C>T | ||
| 0683 | EBS Localized | KRT14 | c.364C>T | ||
| 0710 | EBS Localized | KRT14 | c.364C>T | ||
| 0705 | EBS Localized | KRT14 | c.373C>A | ||
| 0516 | EBS Localized | KRT14 | c.373C>T | ||
| 0608 | EBS Localized | KRT14 | c.398T>C | ||
| 0651 | EBS Localized | KRT14 | c.398T>G | ||
| 0691 | EBS Localized | KRT14 | c.428T>C | ||
| 0785 | EBS Localized | KRT14 | c.609-14T>A | ||
| 0038 | EBS Localized | KRT14 | C428C>T | ||
| 0373 | EBS Localized | KRT5 | c.1072G>T | ||
| 0309 | EBS Localized | KRT5 | c.1261G>A | ||
| 0481 | EBS Localized | KRT5 | c.1399A>T | ||
| 0784 | EBS Localized | KRT5 | c.1410C>A | ||
| 0535 | EBS Localized | KRT5 | c.1432G>A | ||
| 0465 | EBS Localized | KRT5 | c.1432G>A | ||
| 0474 | EBS Localized | KRT5 | c.1432G>C | ||
| 0132 | EBS Localized | KRT5 | c.1432G>T | ||
| 0380 | EBS Localized | KRT5 | c.1627delinsAGTGGA | ||
| 0138 | EBS Localized | KRT5 | c.1649delG | ||
| 0657 | EBS Localized | KRT5 | c.494G>C | ||
| 0194 | EBS Localized | KRT5 | c.556G>A | ||
| 0717 | EBS Localized | KRT5 | c.927+2T>G | ||
| 0348 | EBS migratory circinate erythema | KRT14 | c.1144_1176dup | ||
| 0023 | EBS Migratory circinate erythema | KRT5 | c.1649delG | ||
| 0059 | EBS Migratory circinate erythema | KRT5 | c.1649delG | ||
| 0416 | EBS mottled pigmentation | KRT5 | c.47C>T | ||
| 0112 | EBS Severe | KRT14 | c.1158_1159ins... | ||
| 0435 | EBS Severe | KRT14 | c.1240A>C | ||
| 0394 | EBS Severe | KRT14 | c.1256T>G | ||
| 0140 | EBS Severe | KRT14 | c.1429G>A | ||
| 0296 | EBS Severe | KRT14 | c.364C>T | ||
| 0065 | EBS Severe | KRT14 | c.367T>G | ||
| 0566 | EBS Severe | KRT14 | c.369T>A | KRT14 | c.349G>A |
| 0302 | EBS Severe | KRT14 | c.373C>T | ||
| 0316 | EBS Severe | KRT14 | c.373C>T | ||
| 0427 | EBS Severe | KRT14 | c.373C>T | ||
| 0043 | EBS Severe | KRT14 | c.374G>A | ||
| 0198 | EBS Severe | KRT14 | c.374G>A | ||
| 0719 | EBS Severe | KRT14 | c.377T>G | ||
| 0425 | EBS Severe | KRT14 | c.524T>C | ||
| 0725 | EBS Severe | KRT5 | c.1396G>A | PLEC | c.2477A>G |
| 0492 | EBS Severe | KRT5 | c.1421T>C | KRT14 | c.569T>C |
| 0362 | EBS Severe | KRT5 | c.1423G>T | ||
| 0003 | EBS Severe | KRT5 | c.1429G>A | ||
| 0534 | EBS Severe | KRT5 | c.1429G>A | ||
| 0554 | EBS Severe | KRT5 | c.1429G>A | PLEC | c.13091C>T |
| 0318 | EBS Severe | KRT5 | c.1429G>A | ||
| 0574 | EBS Severe | KRT5 | c.1429G>A | ||
| 0339 | EBS Severe | KRT5 | c.1429G>A | ||
| 0158 | EBS Severe | KRT5 | c.1429G>A | ||
| 0423 | EBS Severe | KRT5 | c.1434A>C | ||
| 0405 | EBS Severe | KRT5 | c.431_436delCTGTCA | ||
| 0148 | EBS Severe | KRT5 | c.472_483delGACCC CAGCATC | ||
| 0537 | EBS Severe | KRT5 | c.502G>A | ||
| 0298 | EBS Severe | KRT5 | c.511-513delCAG | ||
| 0204 | EBS Severe | KRT5 | c.515T>A | ||
| 0568 | EBS Severe | KRT5 | c.523C>T | ||
| 0056 | EBS Severe | KRT5 | c.524T>C | ||
| 0463 | EBS Severe | KRT5 | c.526A>G | ||
| 0519 | EBS Severe | KRT5 | c.527A>G | ||
| 0052 | EBS Severe | KRT5 | C.527A>G | ||
| 0187 | EBS Severe | KRT5 | c.541T>C | ||
| 0223 | EBS Severe | KRT5 | c.541T>C | ||
| 0202 | EBS with mottled pigmentation | KRT14 | c.1158_1159ins... | ||
| 0697 | EBS with mottled pigmentation | KRT5 | c.1649del | ||
| 0706 | EBS with mottled pigmentation | KRT5 | c.74C>T | ||
| 0456 | EBS with mottled pigmentation | KRT5 | c.74C>T | ||
| 0531 | EBS with Muscular dystrophy | PLEC | c.7312C>T | PLEC | c.2578_2579dup |
| 0528 | EBS with pyloric atresia | PLEC | c.401T>C | PLEC | c.4557dup |
| 0592 | EBS, intermediate with PLEC pathogenic variants | PLEC | c.5843G>A | PLEC | c.194-11684C>T |
| 0044 | JEB | LAMC2 | c.1882C>T | LAMC2 | c.3229-2A>G |
| 0169 | JEB Intermediate | COL17A1 | c.1507delG | not found | |
| 0211 | JEB Intermediate | COL17A1 | c.1612delA | not found | |
| 0764 | JEB intermediate | COL17A1 | c.1696C>T | COL17A1 | c.1696C>T |
| 0715 | JEB intermediate | COL17A1 | c.1696C>T | COL17A1 | c.412C>T |
| 0505 | JEB Intermediate | COL17A1 | c.1730dup | COL17A1 | c.1730dup |
| 0337 | JEB Intermediate | COL17A1 | c.1873C>T | COL17A1 | c.1873C>T |
| 0522 | JEB Intermediate | COL17A1 | c.1880G>T | COL17A1 | c.1239_1240del |
| 0726 | JEB intermediate | COL17A1 | c.2039-6G>A | COL17A1 | c.646-2A>C |
| 0200 | JEB Intermediate | COL17A1 | c.2350C>T | COL17A1 | c.2875delC |
| 0008 | JEB Intermediate | COL17A1 | c.2383C>T | COL17A1 | c.558_567del |
| 0406 | JEB Intermediate | COL17A1 | c.2822-9G>A | COL17A1 | c.1696C>T |
| 0401 | JEB Intermediate | COL17A1 | c.2885A>C | PLEC | c.11909C>T |
| 0748 | JEB intermediate | COL17A1 | c.2897-9G>A | COL17A1 | c.2897-9G>A |
| 0240 | JEB Intermediate | COL17A1 | c.2975C>A | COL17A1 | c.427C>T |
| 0617 | JEB intermediate | COL17A1 | c.3467dup | COL17A1 | c.3686dup |
| 0440 | JEB Intermediate | COL17A1 | c.3482_3483delAT | not found | |
| 0105 | JEB Intermediate | COL17A1 | c.3801insC | COL17A1 | c.3801insC |
| 0027 | JEB Intermediate | COL17A1 | c.4011T>A | COL17A1 | c.3071-6C>A |
| 0035 | JEB Intermediate | COL17A1 | c.4159C>T | COL17A1 | c.2635C>T |
| 0392 | JEB Intermediate | COL17A1 | c.422_433dup11 | COL17A1 | c.1141+5G>A |
| 0701 | JEB intermediate | COL17A1 | c.4319dupC | COL17A1 | c.1696C>T |
| 0317 | JEB Intermediate | COL17A1 | c.505C>T | COL17A1 | c.2736_2737delinsA |
| 0177 | JEB Intermediate | COL17A1 | c.997C>T | COL17A1 | c.3481dupT |
| 0084 | JEB Intermediate | ITGB4 | c.2291T>C | ITGB4 | gene lost |
| 0700 | JEB intermediate | ITGB4 | c.599C>G | ITGB4 | c.2633+2T>G |
| 0498 | JEB Intermediate | ITGB4 | c.599C>G | ITGB4 | c.1953C>A |
| 0378 | JEB Intermediate | ITGB4 | c3728CT | ITGB4 | c.1081G>T |
| 0126 | JEB Intermediate | LAMA3 | c.6305+1G>A | LAMA3 | c.6667G>T |
| 0041 | JEB Intermediate | LAMB3 | c.1172_1179delins TGTGTGTGCAAGGAG | LAMB3 | c.1172_1179delins TGTGTGTGCAAGGAG |
| 0242 | JEB Intermediate | LAMB3 | c.1172_1179delins TGTGTGTGCAAGGAG | LAMB3 | c.1172_1179delins TGTGTGTGCAAGGAG |
| 0234 | JEB Intermediate | LAMB3 | c.1172_1179delinsTG TGTGTGCAAGGAG | LAMB3 | c.3119G>A |
| 0262 | JEB Intermediate | LAMB3 | c.1390C>T | LAMB3 | c.1178_1179del ACinsGTGCAAGAG |
| 0403 | JEB Intermediate | LAMB3 | c.1903C>T | LAMB3 | c.1172_1173delinsCC |
| 0793 | JEB intermediate | LAMB3 | c.2188C>T | LAMB3 | c.323T>C |
| 0095 | JEB Intermediate | LAMB3 | c.2346delC | LAMB3 | c.755G>A |
| 0163 | JEB Intermediate | LAMB3 | c.2346delC | LAMB3 | c.2346delC |
| 0808 | JEB intermediate | LAMB3 | c.3382+244G>A | LAMB3 | c.2701+6C>A |
| 0814 | JEB intermediate | LAMB3 | c.3512G>A | LAMB3 | c.241C>T |
| 0176 | JEB Intermediate | LAMB3 | c.629-12T>A | LAMB3 | c.1903C>T |
| 0376 | JEB Intermediate | LAMB3 | c.761G>A | LAMB3 | c.124C>T |
| 0100 | JEB Intermediate | LAMB3 | c.C124T | LAMB3 | c.G3512A |
| 0016 | JEB Intermediate | LAMB3 | c.C1507T | LAMB3 | c.G3512A |
| 0457 | JEB Intermediate | LAMB3 | IVS8-12T>A | LAMB3 | c.3120G>A |
| 0603 | JEB intermediate | LAMC2 | c.106C>T | LAMC2 | c.1882C>T |
| 0364 | JEB Intermediate | LAMC2 | c.191_192dup | LAMC2 | c.212_214delinsCC |
| 0598 | JEB intermediate | LAMC2 | c.2754G>A | LAMC2 | c.504-12A>G |
| 0244 | JEB Intermediate | LAMC2 | c.2755-2A>G | LAMC2 | c.3242C>T |
| 0311 | JEB Intermediate | LAMC2 | c.806T>C | LAMC2 | c.2904delA |
| 0800 | JEB intermediate | LAMC2 | c.95_96dupGG | LAMC2 | Ex.23del |
| 0076 | JEB Intermediate | LAMC2 | c.C764T | LAMC2 | c.C1882T |
| 0020 | JEB Intermediate | LAMC2 | c.G1468T | LAMC2 | c.G2341T |
| 0338 | JEB Localized | COL17A1 | c.4156+1G>A | COL17A1 | c.2496dupT |
| 0486 | JEB Localized | ITGB4 | c.1805A>T | ITGB4 | c.914C>T |
| 0812 | JEB Localized | ITGB4 | c.1882del | ITGB4 | c.3098C>T |
| 0480 | JEB Localized | ITGB4 | c.2524C>T | ITGB4 | c.1343_1360dup |
| 0749 | JEB Localized | LAMB3 | c.1172_1179delCCT GTGACinsTGTGTGTGC AAGGAG | LAMB3 | c.974G>A |
| 0778 | JEB Localized | LAMB3 | c.2173_2211del | LAMB3 | c.2116del |
| 0493 | JEB Severe | LAMA3 | c.1450C>T | LAMA3 | c.2727T>G |
| 0118 | JEB Severe | LAMA3 | c.1478+5G>A | LAMA3 | c.4647+5G>C |
| 0774 | JEB Severe | LAMA3 | c.2293C>T | LAMA3 | c.2502+5G>A |
| 0509 | JEB Severe | LAMA3 | c.4042C>T | LAMA3 | c.748C>T |
| 0665 | JEB Severe | LAMA3 | c.6999_7000del | LAMA3 | c.7120C>T |
| 0708 | JEB Severe | LAMA3 | Ex.27-28del | LAMA3 | Ex.30dup |
| 0470 | JEB Severe | LAMB3 | c.1172_1173delCC | LAMB3 | c.2188C>T |
| 0357 | JEB Severe | LAMB3 | c.1608_1906del | LAMB3 | c.1608_1906del |
| 0742 | JEB Severe | LAMB3 | C.1705C>T | LAMB3 | C.1705C>T |
| 0313 | JEB Severe | LAMB3 | c.1802del | LAMB3 | c.2188C>T |
| 0004 | JEB Severe | LAMB3 | c.1802delG | LAMB3 | exon 1, 2 missing |
| 0599 | JEB Severe | LAMB3 | c.1976+1G>A | LAMB3 | c.2358+1G>A |
| 0145 | JEB Severe | LAMB3 | c.2188C>T | LAMB3 | c.1705C>T |
| 0444 | JEB Severe | LAMB3 | c.2419C>T | LAMB3 | c.2419C>T |
| 0172 | JEB Severe | LAMB3 | c.2728C>T | LAMB3 | c.9066G>A |
| 0450 | JEB Severe | LAMB3 | c.2887C>T | LAMB3 | c.2983C>T |
| 0283 | JEB Severe | LAMB3 | c.2914C>T | LAMB3 | c.2188C>T |
| 0645 | JEB Severe | LAMB3 | c.2983C>T | LAMB3 | c.1734C>A |
| 0550 | JEB Severe | LAMB3 | c.3119G>A | LAMB3 | c.3119G>A |
| 0186 | JEB Severe | LAMB3 | c.3119G>A | LAMB3 | c.3119G>A |
| 0222 | JEB Severe | LAMB3 | c.3163del | LAMB3 | c.2170C>T |
| 0419 | JEB Severe | LAMB3 | c.439C>T | LAMB3 | c.2914C>T |
| 0125 | JEB Severe | LAMB3 | c.629-12T>A | LAMB3 | c.3119G>A |
| 0449 | JEB Severe | LAMC2 | c.283C>T | LAMC2 | c.1756C>T |
| 0119 | JEB Severe | LAMC2 | c.3385C>T | LAMC2 | c.2869G>A |
| 0085 | JEB Severe | LAMC2 | c.C733T | LAMC2 | c.C1141T |
| 0017 | JEB with pyloric atresia | ITGB4 | c.1076T>C | ITGB4 | c.1370G>A |
| 0555 | JEB with pyloric atresia | ITGB4 | c.1454+2T>C | ITGB4 | c.4816C>T |
| 0286 | JEB with pyloric atresia | ITGB4 | c.1684T>C | ITGB4 | c.3719G>A |
| 0291 | JEB with pyloric atresia | ITGB4 | c.3931G>T | ITGB4 | c.1684T>C |
| 0671 | JEB with pyloric atresia | ITGB4 | c.581G>A | ITGB4 | c.1343_1360dup |
| 0334 | JEB with pyloric atresia | ITGB4 | c.794dupC | ITGB4 | c.907G>T |
| 0677 | JEB with pyloric atresia | ITGB4 | exon27 repeat | ITGB4 | c.847C>T |
| 0734 | KEB | FERMT1 | c.1719-2A>G | FERMT1 | c.384_385+2del |
| 0632 | Kindler Syndrome | FERMT1 | c.1140-2A>G | FERMT1 | c.1140-2A>G |
| 0301 | Kindler Syndrome | FERMT1 | c.1192_1194delinsAT ACATACTTT | FERMT1 | c.811C>T |
| 0532 | Kindler Syndrome | FERMT1 | c.1885_1901del | FERMT1 | c.1885_1901del |
| 0160 | Kindler Syndrome | FERMT1 | c.277C>T | FERMT1 | c.277C>T |
| 0439 | Kindler Syndrome | FERMT1 | c.37G>T | FERMT1 | c.37G>T |
| 0028 | Kindler Syndrome | FERMT1 | exon 2-6 lost | FERMT1 | exon 2-6 lost |
| 0037 | not EB | KRT14 | c.1237G>A | ||
| 0757 | RDEB intermediate | COL7A1 | c. C143T | COL7A1 | c.1006_1007del |
| 0822 | RDEB intermediate | COL7A1 | c.-188C>T | COL7A1 | c.8569G>T |
| 0514 | RDEB Intermediate | COL7A1 | c.1094-1G>A | COL7A1 | c.4197G>T |
| 0605 | RDEB intermediate | COL7A1 | c.1094-1G>A | COL7A1 | c.8569G>T |
| 0460 | RDEB Intermediate | COL7A1 | c.1094-1G>A | COL7A1 | c.7598del |
| 0744 | RDEB intermediate | COL7A1 | c.1246_1262dupTCT GTTGAGCAGACCCT | COL7A1 | c.5344G>A |
| 0253 | RDEB Intermediate | COL7A1 | c.130G>A | COL7A1 | c.6836C>A |
| 0747 | RDEB intermediate | COL7A1 | c.1424_1457dupAGC CGGGCACTGAGTACCGC CTCACACTCTACAC | COL7A1 | c.4665_4667delinsCGG |
| 0464 | RDEB Intermediate | COL7A1 | c.1465del | c.3281del | |
| 0104 | RDEB Intermediate | COL7A1 | c.1507+1G | COL7A1 | c.1507+1G |
| 0280 | RDEB Intermediate | COL7A1 | c.1573C>T | COL7A1 | c.4556G>A |
| 0803 | RDEB intermediate | COL7A1 | c.1573C>T | COL7A1 | c.6188G>T |
| 0312 | RDEB Intermediate | COL7A1 | c.1573C>T | COL7A1 | c.4665_4667delinsCGG |
| 0314 | RDEB Intermediate | COL7A1 | c.1573C>T | COL7A1 | not found |
| 0584 | RDEB Intermediate | COL7A1 | c.1573C>T | COL7A1 | c.8621-30A>G |
| 0178 | RDEB Intermediate | COL7A1 | c.1573C>T | COL7A1 | c.5272G>A |
| 0709 | RDEB intermediate | COL7A1 | c.1573C>T | COL7A1 | c.8621-30A>G |
| 0207 | RDEB Intermediate | COL7A1 | c.1573C>T | COL7A1 | c.8038G>A |
| 0251 | RDEB Intermediate | COL7A1 | c.1615del | COL7A1 | c.5532+5G>A |
| 0086 | RDEB Intermediate | COL7A1 | c.1615delA | COL7A1 | c.G7256A |
| 0577 | RDEB Intermediate | COL7A1 | c.1615dup | COL7A1 | c.6831+1G>T |
| 0436 | RDEB Intermediate | COL7A1 | c.1720C>T | COL7A1 | c.6689G>A |
| 0282 | RDEB Intermediate | COL7A1 | c.1732C>T | COL7A1 | c.5605G>C |
| 0658 | RDEB intermediate | COL7A1 | c.1732C>T | COL7A1 | c.4039G>T |
| 0115 | RDEB Intermediate | COL7A1 | c.1837C>T | COL7A1 | c.2321_2322insCTGA |
| 0418 | RDEB Intermediate | COL7A1 | c.1837C>T | COL7A1 | c.2050+8C>A |
| 0432 | RDEB Intermediate | COL7A1 | c.1837C>T | COL7A1 | c.4401+3dup |
| 0137 | RDEB Intermediate | COL7A1 | c.2005C>T | COL7A1 | as IVS109-1G>C |
| 0154 | RDEB Intermediate | COL7A1 | c.2035delA | COL7A1 | c.8569G>T |
| 0585 | RDEB Intermediate | COL7A1 | c.2044C>T | COL7A1 | c.6831+1G>T |
| 0602 | RDEB intermediate | COL7A1 | c.2044C>T | COL7A1 | c.191T>C |
| 0354 | RDEB Intermediate | COL7A1 | c.2318_2321dupCTGA | COL7A1 | not found |
| 0823 | RDEB intermediate | COL7A1 | c.2440G>C | COL7A1 | c.6081delC |
| 0675 | RDEB intermediate | COL7A1 | c.2498del | COL7A1 | c.2392G>A |
| 0361 | RDEB Intermediate | COL7A1 | c.2523_2524delAG | COL7A1 | c.2318_2321dup |
| 0328 | RDEB Intermediate | COL7A1 | c.2548_2549delinsC | COL7A1 | c.5552G>A |
| 0538 | RDEB Intermediate | COL7A1 | c.2710+4A>G | COL7A1 | c.6190G>T |
| 0090 | RDEB Intermediate | COL7A1 | c.2710+4A>G | COL7A1 | c.4603delG |
| 0201 | RDEB Intermediate | COL7A1 | c.2711delG | COL7A1 | c.5532+5G>A |
| 0050 | RDEB Intermediate | COL7A1 | c.2801T>C | COL7A1 | c.1006_1007del |
| 0374 | RDEB Intermediate | COL7A1 | c.2858-1G>A | COL7A1 | c.8621-30A>G |
| 0434 | RDEB Intermediate | COL7A1 | c.2858_2859del | COL7A1 | c.7024G>A |
| 0825 | RDEB intermediate | COL7A1 | c.2992+2T>G | COL7A1 | c.2992+2T>G |
| 0415 | RDEB Intermediate | COL7A1 | c.2992+2T>G | COL7A1 | c.7282G>A |
| 0203 | RDEB Intermediate | COL7A1 | c.2992+2T>G | COL7A1 | c.8038G>A |
| 0142 | RDEB Intermediate | COL7A1 | c.3277-1G>A | COL7A1 | c.8272_8272delG |
| 0482 | RDEB Intermediate | COL7A1 | c.3277_3296del | COL7A1 | c.846+2T>C |
| 0471 | RDEB Intermediate | COL7A1 | c.344del | COL7A1 | c.8237G>A |
| 0819 | RDEB intermediate | COL7A1 | c.3625_3635del | COL7A1 | c.4563+30G>A |
| 0078 | RDEB Intermediate | COL7A1 | c.3625_3635del | not found | |
| 0352 | RDEB Intermediate | COL7A1 | c.3625_3635del | COL7A1 | c.6133C>A |
| 0359 | RDEB Intermediate | COL7A1 | c.3625_3635del | COL7A1 | c.G8038A |
| 0379 | RDEB Intermediate | COL7A1 | c.3625_3635del | COL7A1 | c.7017C>T |
| 0644 | RDEB intermediate | COL7A1 | c.3625_3635del | COL7A1 | c.4430G>T |
| 0420 | RDEB Intermediate | COL7A1 | c.3625_3635del | COL7A1 | c.6180+5G>A |
| 0396 | RDEB Intermediate | COL7A1 | c.3625_3635del TCTGTCCAGAC | COL7A1 | c.6187C>T |
| 0398 | RDEB Intermediate | COL7A1 | c.3625_3635del TCTGTCCAGAC | COL7A1 | c.3625_3635del TCTGTCCAGAC |
| 0252 | RDEB Intermediate | COL7A1 | c.3625_3635del TCTGTCCAGAC | COL7A1 | c.3625_3635del TCTGTCCAGAC |
| 0245 | RDEB Intermediate | COL7A1 | c.3625_3635del11 | COL7A1 | c.7828C>T |
| 0724 | RDEB intermediate | COL7A1 | c.3625_3635delTCT GTCCAGAC | COL7A1 | c.2318_2321dup |
| 0733 | RDEB intermediate | COL7A1 | c.3625_3635delTCT GTCCAGAC | COL7A1 | c.3625_3635delTCT GTCCAGAC |
| 0278 | RDEB Intermediate | COL7A1 | c.3625_3635delTCTGT CCAGAC | COL7A1 | c.4981G>A |
| 0113 | RDEB Intermediate | COL7A1 | c.3625_3635delTCTGT CCAGAC | COL7A1 | dsIVS5+1G>A |
| 0129 | RDEB Intermediate | COL7A1 | c.3625_3635delTCTGT CCAGAC | COL7A1 | c.G7051A |
| 0264 | RDEB Intermediate | COL7A1 | c.3701_3702delGT | COL7A1 | g.13752_13755delGACT |
| 0248 | RDEB Intermediate | COL7A1 | c.3867delT | COL7A1 | c.5532+4_5532+5delAG |
| 0014 | RDEB Intermediate | COL7A1 | c.3894+1G>A | COL7A1 | c.1732C>T |
| 0075 | RDEB Intermediate | COL7A1 | c.3894+5G>A | COL7A1 | c.4688_4697del |
| 0769 | RDEB intermediate | COL7A1 | c.3959G>T | COL7A1 | c.682+1G>A |
| 0101 | RDEB Intermediate | COL7A1 | c.4018C>T | COL7A1 | c.8066G>A |
| 0257 | RDEB Intermediate | COL7A1 | c.4027C>T | COL7A1 | c.7097G>A |
| 0563 | RDEB Intermediate | COL7A1 | c.4027C>T | COL7A1 | c.7864C>T |
| 0212 | RDEB Intermediate | COL7A1 | c.4027C>T | COL7A1 | c.8584G>T |
| 0388 | RDEB Intermediate | COL7A1 | c.4039G>A | COL7A1 | c.4039G>A |
| 0089 | RDEB Intermediate | COL7A1 | c.4042G>T | COL7A1 | c.5499C>T |
| 0304 | RDEB Intermediate | COL7A1 | c.4088delT | COL7A1 | c.8569G>T |
| 0548 | RDEB Intermediate | COL7A1 | c.4089delT | COL7A1 | c.6091G>A |
| 0054 | RDEB Intermediate | COL7A1 | c.4089delT | COL7A1 | c.3625_3635del |
| 0171 | RDEB Intermediate | COL7A1 | c.4128delT | COL7A1 | c.8234G>A |
| 0596 | RDEB intermediate | COL7A1 | c.4162 del | COL7A1 | c.520+1G>A |
| 0515 | RDEB Intermediate | COL7A1 | c.4162del | COL7A1 | c.8569G>T |
| 0804 | RDEB intermediate | COL7A1 | c.4162del | COL7A1 | c.3232_3240del |
| 0737 | RDEB intermediate | COL7A1 | c.4162delC | COL7A1 | c.191T>C |
| 0271 | RDEB Intermediate | COL7A1 | c.4401+2T>A | COL7A1 | c.8621-30A>G |
| 0069 | RDEB Intermediate | COL7A1 | c.4439G>A | COL7A1 | c.2587+1_2587+2 insCG |
| 0541 | RDEB Intermediate | COL7A1 | c.4439G>T | COL7A1 | c.6622del |
| 0674 | RDEB intermediate | COL7A1 | c.4439G>T | COL7A1 | c.4439G>T |
| 0249 | RDEB Intermediate | COL7A1 | c.4444_4445incC | COL7A1 | c.5791G>A |
| 0692 | RDEB intermediate | COL7A1 | c.4448G>T | COL7A1 | c.3625_3635del |
| 0116 | RDEB Intermediate | COL7A1 | c.4518+1G>A | COL7A1 | c.6197A>C |
| 0382 | RDEB Intermediate | COL7A1 | c.4555_4557AAA>CGG | not found | |
| 0217 | RDEB Intermediate | COL7A1 | c.4592G>A | COL7A1 | c.8329C>T |
| 0758 | RDEB intermediate | COL7A1 | c.4603dupG | COL7A1 | c.2587+40G>A |
| 0780 | RDEB intermediate | COL7A1 | c.4603G>T | COL7A1 | c.8569G>T |
| 0527 | RDEB Intermediate | COL7A1 | c.4661G>A | COL7A1 | c.4899+31G>A |
| 0771 | RDEB intermediate | COL7A1 | c.4665_4667delinsCGG | COL7A1 | c.4166del |
| 0039 | RDEB Intermediate | COL7A1 | c.4665_4667delinsCGG | COL7A1 | c.5105dupC |
| 0345 | RDEB Intermediate | COL7A1 | c.4665_4667delinsCGG | COL7A1 | c.1440C>G |
| 0189 | RDEB Intermediate | COL7A1 | c.4665_4667delinsCGG | COL7A1 | c.7316delT |
| 0490 | RDEB Intermediate | COL7A1 | c.4665_4667delinsCGG | COL7A1 | c.7828C>T |
| 0064 | RDEB Intermediate | COL7A1 | c.4668+1G>C | COL7A1 | c.211G>A |
| 0285 | RDEB Intermediate | COL7A1 | c.4705G>A | COL7A1 | c.6074G>T |
| 0496 | RDEB Intermediate | COL7A1 | c.4766G>A | COL7A1 | c.682+1G>C |
| 0483 | RDEB Intermediate | COL7A1 | c.4782+1G>C | COL7A1 | c.7289del |
| 0181 | RDEB Intermediate | COL7A1 | c.4811G>A | COL7A1 | c.5404_5405del |
| 0047 | RDEB Intermediate | COL7A1 | c.4888C>T | COL7A1 | c.3172del |
| 0269 | RDEB Intermediate | COL7A1 | c.4894C>T | COL7A1 | c.7614+41G>C |
| 0760 | RDEB intermediate | COL7A1 | c.4899+31G>A | COL7A1 | c.3294C>G |
| 0520 | RDEB Intermediate | COL7A1 | c.5047C>T | COL7A1 | c.8569G>T |
| 0795 | RDEB intermediate | COL7A1 | c.5124G>A | COL7A1 | c.191T>C |
| 0013 | RDEB Intermediate | COL7A1 | c.5164_5179dup | COL7A1 | c.4665_4667delAAA insCGG |
| 0273 | RDEB Intermediate | COL7A1 | c.5188C>G | COL7A1 | c.6994C>T |
| 0458 | RDEB Intermediate | COL7A1 | c.5196del | COL7A1 | c.846+2T>C |
| 0034 | RDEB Intermediate | COL7A1 | c.5314C>T | COL7A1 | c.3625_3635del |
| 0636 | RDEB intermediate | COL7A1 | c.5324del | COL7A1 | c.7876-1G>A |
| 0308 | RDEB Intermediate | COL7A1 | c.5344G>A | COL7A1 | c.7097delG |
| 0629 | RDEB intermediate | COL7A1 | c.5344G>A | COL7A1 | c.3625_3635del |
| 0594 | RDEB intermediate | COL7A1 | c.5404_5405del | COL7A1 | c.1094-1G>A |
| 0128 | RDEB Intermediate | COL7A1 | c.5410_5411insG | COL7A1 | c.8569G>T |
| 0123 | RDEB Intermediate | COL7A1 | c.5477delC | COL7A1 | c.7474C>T |
| 0600 | RDEB intermediate | COL7A1 | c.5532+5G>A | COL7A1 | c.5942A>G |
| 0122 | RDEB Intermediate | COL7A1 | c.5532+5G>A | not found | |
| 0698 | RDEB intermediate | COL7A1 | c.5532+5G>A | COL7A1 | c.4437+5G>C |
| 0412 | RDEB Intermediate | COL7A1 | c.553C>T | COL7A1 | c.1573C>T |
| 0117 | RDEB Intermediate | COL7A1 | c.5570G>A | COL7A1 | c.682+1G>A |
| 0260 | RDEB Intermediate | COL7A1 | c.5651G>A | COL7A1 | c.6826G>A |
| 0344 | RDEB Intermediate | COL7A1 | c.5737-2A>G | COL7A1 | c.4012G>A |
| 0540 | RDEB Intermediate | COL7A1 | c.5773-12_5781del | COL7A1 | c.191T>C |
| 0325 | RDEB Intermediate | COL7A1 | c.5821-2A>C | COL7A1 | c.3625_3635del |
| 0624 | RDEB intermediate | COL7A1 | c.5837T>C | COL7A1 | c.7486-3C>G |
| 0209 | RDEB Intermediate | COL7A1 | c.5869C>T | COL7A1 | c.4303del |
| 0753 | RDEB intermediate | COL7A1 | c.5869C>T | COL7A1 | c.4603dupG |
| 0609 | RDEB intermediate | COL7A1 | c.58C>T | COL7A1 | c.761C>T |
| 0218 | RDEB Intermediate | COL7A1 | c.5932C>T | c.7822G>A | p.G2608S |
| 0239 | RDEB Intermediate | COL7A1 | c.5932C>T | COL7A1 | c.682+1G>A |
| 0182 | RDEB Intermediate | COL7A1 | c.5969delC | COL7A1 | c.8066G>A |
| 0477 | RDEB Intermediate | COL7A1 | c.6017G>A | COL7A1 | c.589_591del |
| 0759 | RDEB intermediate | COL7A1 | c.6023G>A | COL7A1 | c.1A>G |
| 0048 | RDEB Intermediate | COL7A1 | c.6048_6076del | COL7A1 | c.4665A>C |
| 0227 | RDEB Intermediate | COL7A1 | c.6048_6076del | COL7A1 | c.6831+1G>T |
| 0451 | RDEB Intermediate | COL7A1 | c.6081delC | COL7A1 | c.4665_4667delinsCGG |
| 0546 | RDEB Intermediate | COL7A1 | c.6081dup | COL7A1 | c.6205C>T |
| 0595 | RDEB intermediate | COL7A1 | c.6187C>T | COL7A1 | c.6023G>A |
| 0114 | RDEB Intermediate | COL7A1 | c.6187C>T | not found | |
| 0136 | RDEB Intermediate | COL7A1 | c.6187C>T | COL7A1 | g.30258A>G |
| 0654 | RDEB intermediate | COL7A1 | c.6187C>T | COL7A1 | c.8528-11_8528-9del |
| 0413 | RDEB Intermediate | COL7A1 | c.6187C>T | COL7A1 | c.6187C>T |
| 0805 | RDEB intermediate | COL7A1 | c.6190G>T | COL7A1 | c.8527G>A |
| 0575 | RDEB Intermediate | COL7A1 | c.6190G>T | COL7A1 | c.7075G>A |
| 0652 | RDEB intermediate | COL7A1 | c.6205C>T | COL7A1 | c.266+1G>A |
| 0544 | RDEB Intermediate | COL7A1 | c.6241C>T | COL7A1 | c.5964_5965delinsA |
| 0247 | RDEB Intermediate | COL7A1 | c.628+1G>A | COL7A1 | c.5532+5G>A |
| 0607 | RDEB intermediate | COL7A1 | c.6394-25T>C | COL7A1 | c.4782+1G>A |
| 0321 | RDEB Intermediate | COL7A1 | c.6512G>A | COL7A1 | c.6920G>T |
| 0254 | RDEB Intermediate | COL7A1 | c.6528delT | COL7A1 | c.8569G>T |
| 0383 | RDEB Intermediate | COL7A1 | c.6622del | COL7A1 | c.4888C>T |
| 0327 | RDEB Intermediate | COL7A1 | c.6715G>C | COL7A1 | c.1241-6G>A |
| 0763 | RDEB intermediate | COL7A1 | c.6742G>A | COL7A1 | c.2392G>A |
| 0079 | RDEB Intermediate | COL7A1 | c.6750+1_6750+3del | COL7A1 | c.G7051A |
| 0802 | RDEB intermediate | COL7A1 | c.682+1G>A | COL7A1 | c.7272+4del |
| 0411 | RDEB Intermediate | COL7A1 | c.682+1G>A | COL7A1 | c.6187C>T |
| 0740 | RDEB intermediate | COL7A1 | c.682+1G>A | COL7A1 | c.7024G>A |
| 0026 | RDEB Intermediate | COL7A1 | c.6831+1G>T | COL7A1 | c.6520G>A |
| 0141 | RDEB Intermediate | COL7A1 | c.6831+1G>T | COL7A1 | c.8245G>A |
| 0289 | RDEB Intermediate | COL7A1 | c.6946G>A | COL7A1 | c.6994C>T |
| 0268 | RDEB Intermediate | COL7A1 | c.6994C>T | COL7A1 | c.5179_5180insGGGGA CCGCGGACAAG |
| 0525 | RDEB Intermediate | COL7A1 | c.6994C>T | COL7A1 | c.5507G>A |
| 0783 | RDEB intermediate | COL7A1 | c.6994C>T | COL7A1 | c.8569G>T |
| 0030 | RDEB Intermediate | COL7A1 | c.6994C>T | COL7A1 | c.2785C>T |
| 0347 | RDEB Intermediate | COL7A1 | c.7012C>T | COL7A1 | c.7615G>T |
| 0732 | RDEB intermediate | COL7A1 | c.7017C>T | COL7A1 | c.425A>G |
| 0751 | RDEB intermediate | COL7A1 | c.7017C>T | COL7A1 | c.949del |
| 0081 | RDEB Intermediate | COL7A1 | c.7023+1G>A | COL7A1 | c.G7255A |
| 0576 | RDEB Intermediate | COL7A1 | c.7051G>A | COL7A1 | c.6205C>T |
| 0108 | RDEB Intermediate | COL7A1 | c.7051G>A | COL7A1 | c.5797C>T |
| 0385 | RDEB Intermediate | COL7A1 | c.7068+2T>C | COL7A1 | c.7068+2T>C |
| 0199 | RDEB Intermediate | COL7A1 | c.7097G>T | COL7A1 | c.8528-11_8528-9delCCT |
| 0628 | RDEB intermediate | COL7A1 | c.7105G>A | COL7A1 | c.2392G>A |
| 0414 | RDEB Intermediate | COL7A1 | c.712delC | COL7A1 | c.846+2T>C |
| 0721 | RDEB intermediate | COL7A1 | c.7130G>A | COL7A1 | c.6573+5G>A |
| 0702 | RDEB intermediate | COL7A1 | c.7228G>A | COL7A1 | c.5371G>A |
| 0263 | RDEB Intermediate | COL7A1 | c.7234C>T | COL7A1 | c.3595C>T |
| 0792 | RDEB intermediate | COL7A1 | c.7270C>T | COL7A1 | c.6980_7002delinsTCA |
| 0806 | RDEB intermediate | COL7A1 | c.7289dup | not found | |
| 0661 | RDEB intermediate | COL7A1 | c.7291G>C | COL7A1 | c.8726A>G |
| 0010 | RDEB Intermediate | COL7A1 | c.7328G>T | COL7A1 | c.1241-6G>A |
| 0188 | RDEB Intermediate | COL7A1 | c.7423G>T | COL7A1 | c.4233delT |
| 0009 | RDEB Intermediate | COL7A1 | c.7428delG | COL7A1 | c.7372_7373insTTT |
| 0051 | RDEB Intermediate | COL7A1 | c.7474C>T | COL7A1 | c.7939G>C |
| 0303 | RDEB Intermediate | COL7A1 | c.7474C>T | COL7A1 | c.5344G>A |
| 0647 | RDEB intermediate | COL7A1 | c.757_770de | COL7A1 | c.6826G>A |
| 0547 | RDEB Intermediate | COL7A1 | c.7607G>T | COL7A1 | c.1337T>C |
| 0788 | RDEB intermediate | COL7A1 | c.7614+41G>C | COL7A1 | c.7474C>T |
| 0686 | RDEB intermediate | COL7A1 | c.7768G>A | COL7A1 | c.4197+12A>G |
| 0723 | RDEB intermediate | COL7A1 | c.7828C>T | COL7A1 | c.6187C>T |
| 0238 | RDEB Intermediate | COL7A1 | c.7828C>T | COL7A1 | c.1892G>A |
| 0640 | RDEB intermediate | COL7A1 | c.7859G>T | COL7A1 | c.7657C>T |
| 0656 | RDEB intermediate | COL7A1 | c.7864C>T | COL7A1 | c.2689_2692del |
| 0430 | RDEB Intermediate | COL7A1 | c.7876-2A>G | COL7A1 | c.7096G>A |
| 0049 | RDEB Intermediate | COL7A1 | c.7929G>A | COL7A1 | c.3625_3635del |
| 0743 | RDEB intermediate | COL7A1 | c.7930-2A>G | COL7A1 | c.3935G>A |
| 0384 | RDEB Intermediate | COL7A1 | c.7957G>A | COL7A1 | c.3625_3635del |
| 0070 | RDEB Intermediate | COL7A1 | c.8047-1G>A | COL7A1 | c.143C>T |
| 0408 | RDEB Intermediate | COL7A1 | c.8084G>T | COL7A1 | c.8569G>T |
| 0421 | RDEB Intermediate | COL7A1 | c.8174G>A | COL7A1 | c.1241-6G>A |
| 0437 | RDEB Intermediate | COL7A1 | c.8227-1G>A | COL7A1 | c.3625_3635del TCTGTCCAGAC |
| 0536 | RDEB Intermediate | COL7A1 | c.8228G>A | COL7A1 | c.8528-11_8528-9delCCT |
| 0693 | RDEB intermediate | COL7A1 | c.8245G>A | COL7A1 | c.7828C>T |
| 0573 | RDEB Intermediate | COL7A1 | c.8272del | COL7A1 | c.1440C>G |
| 0529 | RDEB Intermediate | COL7A1 | c.8272delG | COL7A1 | c.5605G>C |
| 0461 | RDEB Intermediate | COL7A1 | c.8272delG | COL7A1 | c.8038G>A |
| 0055 | RDEB Intermediate | COL7A1 | c.8278G>A | COL7A1 | c.8278G>A |
| 0454 | RDEB Intermediate | COL7A1 | c.8278G>A | COL7A1 | c.846+2T>C |
| 0276 | RDEB Intermediate | COL7A1 | c.8329C>T | COL7A1 | c.8767delG |
| 0453 | RDEB Intermediate | COL7A1 | c.8329C>T | COL7A1 | c.4965C>T |
| 0499 | RDEB Intermediate | COL7A1 | c.8335G>T | COL7A1 | c.7558-1G>A |
| 0506 | RDEB Intermediate | COL7A1 | c.8335G>T | COL7A1 | c.8569G>T |
| 0310 | RDEB Intermediate | COL7A1 | c.8375delG | COL7A1 | c.4665_4667delinsCGG |
| 0659 | RDEB intermediate | COL7A1 | c.8441-2A>G | COL7A1 | c.8066G>A |
| 0042 | RDEB Intermediate | COL7A1 | c.846+2T>C | COL7A1 | c.4098_4099insGCGA |
| 0046 | RDEB Intermediate | COL7A1 | c.846+2T>C | COL7A1 | c.2314+1G>T |
| 0319 | RDEB Intermediate | COL7A1 | c.846+2T>C | COL7A1 | c.846+2T>C |
| 0582 | RDEB Intermediate | COL7A1 | c.846+2T>C | COL7A1 | c.3232_3240del |
| 0331 | RDEB Intermediate | COL7A1 | c.846+2T>C | COL7A1 | c.C1407G |
| 0653 | RDEB intermediate | COL7A1 | c.846+2T>C | COL7A1 | c.846+2T>C |
| 0404 | RDEB Intermediate | COL7A1 | c.846+2T>C | COL7A1 | c.7017C>T |
| 0356 | RDEB Intermediate | COL7A1 | c.8485_8510del | COL7A1 | c.4665_4667delinsCGG |
| 0168 | RDEB Intermediate | COL7A1 | c.848T>C | COL7A1 | c.6081delC |
| 0102 | RDEB Intermediate | COL7A1 | c.85+2T>G | COL7A1 | c.8461_8483del |
| 0410 | RDEB Intermediate | COL7A1 | c.8527G>A | COL7A1 | c.6994C>T |
| 0258 | RDEB Intermediate | COL7A1 | c.8569G>T | COL7A1 | c.8371delC |
| 0775 | RDEB intermediate | COL7A1 | c.8569G>T | COL7A1 | c.6994C>T |
| 0040 | RDEB Intermediate | COL7A1 | c.8569G>T | COL7A1 | c.2992+2T>G |
| 0816 | RDEB intermediate | COL7A1 | c.8569G>T | COL7A1 | c.7411C>T |
| 0820 | RDEB intermediate | COL7A1 | c.8569G>T | COL7A1 | c.2005C>T |
| 0587 | RDEB Intermediate | COL7A1 | c.8569G>T | COL7A1 | c.3625_3635del |
| 0340 | RDEB Intermediate | COL7A1 | c.8569G>T | COL7A1 | c.5461G>A |
| 0346 | RDEB Intermediate | COL7A1 | c.8569G>T | COL7A1 | c.2005C>T |
| 0355 | RDEB Intermediate | COL7A1 | c.8569G>T | COL7A1 | c.7245G>A |
| 0370 | RDEB Intermediate | COL7A1 | c.8569G>T | COL7A1 | c.8003del |
| 0625 | RDEB intermediate | COL7A1 | c.8569G>T | COL7A1 | c.6652-1G>A |
| 0391 | RDEB Intermediate | COL7A1 | c.8569G>T | COL7A1 | c.3625_3635del TCTGTCCAGAC |
| 0149 | RDEB Intermediate | COL7A1 | c.8569G>T | COL7A1 | c.3208G>T |
| 0150 | RDEB Intermediate | COL7A1 | c.8569G>T | COL7A1 | c.4027C>T |
| 0175 | RDEB Intermediate | COL7A1 | c.8569G>T | COL7A1 | c.3432C>G |
| 0695 | RDEB intermediate | COL7A1 | c.8569G>T | COL7A1 | c.7876-1G>A |
| 0213 | RDEB Intermediate | COL7A1 | c.8569G>T | COL7A1 | c.8272delG |
| 0214 | RDEB Intermediate | COL7A1 | c.8569G>T | COL7A1 | c.4522_4532del |
| 0736 | RDEB intermediate | COL7A1 | c.8569G>T | COL7A1 | c.8084G>T |
| 0236 | RDEB Intermediate | COL7A1 | c.8569G>T | COL7A1 | c.2974_2977del |
| 0241 | RDEB Intermediate | COL7A1 | c.8569G>T | COL7A1 | c.2169C>T |
| 0501 | RDEB Intermediate | COL7A1 | c.8569G>T | COL7A1 | c.1573C>T |
| 0504 | RDEB Intermediate | COL7A1 | c.8569G>T | COL7A1 | c.6081del |
| 0798 | RDEB intermediate | COL7A1 | c.8621-30A>G | COL7A1 | c.7037G>A |
| 0561 | RDEB Intermediate | COL7A1 | c.8621-30A>G | COL7A1 | c.4894C>T |
| 0611 | RDEB intermediate | COL7A1 | c.8621-30A>G | COL7A1 | c.1A>G |
| 0485 | RDEB Intermediate | COL7A1 | c.8621-30A>G | COL7A1 | c.3723+5G>A |
| 0478 | RDEB Intermediate | COL7A1 | c.8625_8626del | COL7A1 | c.1507+1G>A |
| 0786 | RDEB intermediate | COL7A1 | c.8627G>T | COL7A1 | c.7411C>T |
| 0627 | RDEB intermediate | COL7A1 | c.8662_8677del | COL7A1 | c.4162del |
| 0021 | RDEB Intermediate | COL7A1 | c.8664C>A | COL7A1 | c.6329delC |
| 0215 | RDEB Intermediate | COL7A1 | c.8835A>C | COL7A1 | c.8569G>T |
| 0179 | RDEB Intermediate | COL7A1 | c.C676T | COL7A1 | c.G4342C |
| 0073 | RDEB Intermediate | COL7A1 | c.G4546A | COL7A1 | c.6715-1G>A |
| 0389 | RDEB Intermediate | COL7A1 | ds IVS40+2T>A | COL7A1 | c.7559G>A |
| 0183 | RDEB Inversa | COL7A1 | c.1573C>T | COL7A1 | c.6205C>T |
| 0045 | RDEB Inversa | COL7A1 | c.2377delC | COL7A1 | c.6205C>T |
| 0096 | RDEB Inversa | COL7A1 | c.2477_2478del | COL7A1 | c.G8065A |
| 0229 | RDEB Inversa | COL7A1 | c.3625_3635delTCTGT CCAGAC | c.6205C>T | p.R2069C |
| 0221 | RDEB Inversa | COL7A1 | c.4322dupC | COL7A1 | c.6205C>T |
| 0246 | RDEB Inversa | COL7A1 | c.6022C>T | COL7A1 | lost |
| 0524 | RDEB Inversa | COL7A1 | c.6074dup | COL7A1 | c.6205C>T |
| 0210 | RDEB Inversa | COL7A1 | c.6205C>T | COL7A1 | c.8272_8272delG |
| 0586 | RDEB Localized | COL7A1 | c.-185C>T | COL7A1 | c.4027C>T |
| 0679 | RDEB Localized | COL7A1 | c.1006_1007del | COL7A1 | c.191T>C |
| 0015 | RDEB Localized | COL7A1 | c.1732C>T | COL7A1 | c.4162delC |
| 0678 | RDEB Localized | COL7A1 | c.2005C>T | COL7A1 | c.6927G>C |
| 0583 | RDEB Localized | COL7A1 | c.2044C>T | COL7A1 | c.8233C>G |
| 0094 | RDEB Localized | COL7A1 | c.2638dupG | COL7A1 | c.1582T>C |
| 0426 | RDEB Localized | COL7A1 | c.3625_3635del | COL7A1 | c.2726_2728del |
| 0613 | RDEB Localized | COL7A1 | c.4012G>A | COL7A1 | c.4011G>A |
| 0053 | RDEB Localized | COL7A1 | c.4089delT | COL7A1 | c.5560G>A |
| 0387 | RDEB Localized | COL7A1 | c.4333G>A | COL7A1 | c.682+1G>A |
| 0407 | RDEB Localized | COL7A1 | c.5404_5405del | COL7A1 | c.2315-3C>T |
| 0642 | RDEB Localized | COL7A1 | c.5532+5G>A | COL7A1 | c.3940G>A |
| 0431 | RDEB Localized | COL7A1 | c.6023G>A | COL7A1 | c.6770G>A |
| 0502 | RDEB Localized | COL7A1 | c.6652-1G>A | not found | |
| 0363 | RDEB Localized | COL7A1 | c.6751-1G>A | COL7A1 | c.8T>C |
| 0295 | RDEB Localized | COL7A1 | c.6831+1G>T | COL7A1 | c.6074dupG |
| 0033 | RDEB Localized | COL7A1 | c.7164+1G>A | COL7A1 | c.5487G>A |
| 0393 | RDEB Localized | COL7A1 | c.7372_7373insTTT | COL7A1 | c.8621-30A>G |
| 0315 | RDEB Localized | COL7A1 | c.8228delG | COL7A1 | c.8764C>T |
| 0061 | RDEB Localized | COL7A1 | c.846+2T>C | COL7A1 | c.5522delA |
| 0696 | RDEB Localized | COL7A1 | c.8569G>T | COL7A1 | c.6619-1G>A |
| 0452 | RDEB Localized | COL7A1 | c.8569G>T | COL7A1 | c.8038G>A |
| 0462 | RDEB Localized | COL7A1 | c.8621-30A>G | COL7A1 | c.8621-30A>G |
| 0673 | RDEB Localized | COL7A1 | c.8627G>T | COL7A1 | c.682+1G>A |
| 0616 | RDEB Localized | COL7A1 | c.8726A>G | COL7A1 | c.7411C>T |
| 0082 | RDEB Localized | COL7A1 | c.C4027T | COL7A1 | c.G4439A |
| 0343 | RDEB Localized | COL7A1 | c.G6127A | COL7A1 | c.G4343T |
| 0801 | RDEB Localized | COL7A1 | exon32-48 del | COL7A1 | c.3182C>T |
| 0818 | RDEB pruriginosa | COL7A1 | c.2005C>T | COL7A1 | c.976+27C>A |
| 0305 | RDEB pruriginosa | COL7A1 | c.3551G>A | COL7A1 | c.5687del10 |
| 0526 | RDEB pruriginosa | COL7A1 | c.4556G>T | COL7A1 | c.8569G>T |
| 0127 | RDEB pruriginosa | COL7A1 | c.5531dupA | COL7A1 | c.7270C>T |
| 0400 | RDEB pruriginosa | COL7A1 | c.6035G>A | ||
| 0689 | RDEB pruriginosa | COL7A1 | c.8383C>T | COL7A1 | c.2333del |
| 0366 | RDEB pruriginosa | COL7A1 | c.8569G>T | COL7A1 | c.8569G>T |
| 0649 | RDEB pruriginosa | COL7A1 | c.8569G>T | COL7A1 | c.8569G>T |
| 0272 | RDEB pruriginosa | COL7A1 | c.G4420A | COL7A1 | c.7428delG |
| 0467 | RDEB self-improving | COL7A1 | c.6485G>A | COL7A1 | c.4393G>T |
| 0333 | RDEB self-improving | COL7A1 | c.6496A>T | COL7A1 | c.7882C>T |
| 0287 | RDEB Severe | COL7A1 | c.706C>T | COL7A1 | c.8569G>T |
| 0109 | RDEB Severe | COL7A1 | c. 6214C>T | COL7A1 | c. 6214C>T |
| 0156 | RDEB Severe | COL7A1 | c.1006_1007del | COL7A1 | c.7234C>T |
| 0157 | RDEB Severe | COL7A1 | c.1105C>T | COL7A1 | c.1105C>T |
| 0479 | RDEB Severe | COL7A1 | c.1136C>A | COL7A1 | c.1136C>A |
| 0259 | RDEB Severe | COL7A1 | c.1172_1173delAT | COL7A1 | c.7606G>C |
| 0180 | RDEB Severe | COL7A1 | c.1177delG | COL7A1 | c.5499C>T |
| 0166 | RDEB Severe | COL7A1 | c.1430delG | COL7A1 | c.7474C>T |
| 0497 | RDEB Severe | COL7A1 | c.1507+1G>A | COL7A1 | c.8272del |
| 0523 | RDEB Severe | COL7A1 | c.1545dup | COL7A1 | c.6501+4A>G |
| 0001 | RDEB Severe | COL7A1 | c.1573C>T | COL7A1 | c.7828C>T |
| 0349 | RDEB Severe | COL7A1 | c.1837C>T | COL7A1 | c.846+2T>C |
| 0684 | RDEB Severe | COL7A1 | c.1892G>A | COL7A1 | c.4871del |
| 0794 | RDEB Severe | COL7A1 | c.2044C>T | COL7A1 | c.846+2T>C |
| 0092 | RDEB Severe | COL7A1 | c.2044C>T | COL7A1 | c.5949_5968delins GGTGAG |
| 0228 | RDEB Severe | COL7A1 | c.2044C>T | COL7A1 | c.8038G>A |
| 0279 | RDEB Severe | COL7A1 | c.2065_2066delGT | COL7A1 | c.2477_2478delCA |
| 0164 | RDEB Severe | COL7A1 | c.2329_2335del | COL7A1 | c.5527A>T |
| 0447 | RDEB Severe | COL7A1 | c.2392G>A | not found | |
| 0824 | RDEB Severe | COL7A1 | c.2701C>T | COL7A1 | c.1573C>T |
| 0326 | RDEB Severe | COL7A1 | c.2701C>T | COL7A1 | c.8569G>T |
| 0167 | RDEB Severe | COL7A1 | c.2722C>T | COL7A1 | c.4336delG |
| 0147 | RDEB Severe | COL7A1 | c.2785C>T | COL7A1 | c.1573C>T |
| 0277 | RDEB Severe | COL7A1 | c.2896delG | COL7A1 | c5261dupC |
| 0080 | RDEB Severe | COL7A1 | c.2926_2927ins30 | COL7A1 | c.4109delC |
| 0533 | RDEB Severe | COL7A1 | c.2992+2T>G | COL7A1 | c.409C>T |
| 0135 | RDEB Severe | COL7A1 | c.2992+2T>G | COL7A1 | c.2992+2T>G |
| 0489 | RDEB Severe | COL7A1 | c.2992+2T>G | COL7A1 | c.8053C>T |
| 0417 | RDEB Severe | COL7A1 | c.3048delA | COL7A1 | c.3048delA |
| 0098 | RDEB Severe | COL7A1 | c.3624_3634delCTCTGTCCAGA | COL7A1 | c.7168-2A>G |
| 0552 | RDEB Severe | COL7A1 | c.3625_3635del | COL7A1 | c.C4018T |
| 0342 | RDEB Severe | COL7A1 | c.3625_3635del | COL7A1 | c.3625_3635del |
| 0620 | RDEB Severe | COL7A1 | c.3625_3635del | COL7A1 | c.4232dup |
| 0668 | RDEB Severe | COL7A1 | c.3625_3635del | COL7A1 | c.6572del |
| 0688 | RDEB Severe | COL7A1 | c.3625_3635del | COL7A1 | c.682+1G>A |
| 0275 | RDEB Severe | COL7A1 | c.3625_3635del11 | COL7A1 | c.266+1G>A |
| 0292 | RDEB Severe | COL7A1 | c.3625_3635delTCTGT CCAGAC | COL7A1 | c.4128delT |
| 0133 | RDEB Severe | COL7A1 | c.3625_3635delTCTGT CCAGAC | COL7A1 | c.266+1G>A |
| 0297 | RDEB Severe | COL7A1 | c.3701_3702delGT | COL7A1 | c.7655delC |
| 0320 | RDEB Severe | COL7A1 | c.3723+5G>A | COL7A1 | c.2785C>T |
| 0631 | RDEB Severe | COL7A1 | c.3895-1G>C | COL7A1 | c.5923G>T |
| 0111 | RDEB Severe | COL7A1 | c.3916delC | COL7A1 | c.500_501insAGGG |
| 0495 | RDEB Severe | COL7A1 | c.4047+1G>A | COL7A1 | c.4089del |
| 0776 | RDEB Severe | COL7A1 | c.4162del | COL7A1 | c.1636+59C>G |
| 0664 | RDEB Severe | COL7A1 | c.4401+1G>A | COL7A1 | c.6883delA |
| 0619 | RDEB Severe | COL7A1 | c.4401+2T>A | COL7A1 | c.1573C>T |
| 0807 | RDEB Severe | COL7A1 | c.4486G>T | COL7A1 | c.4162del |
| 0797 | RDEB Severe | COL7A1 | c.4669-1G>A | COL7A1 | ex.75-77del |
| 0205 | RDEB Severe | COL7A1 | c.4719delA | COL7A1 | c.682+1G>T |
| 0144 | RDEB Severe | COL7A1 | c.481C>T | COL7A1 | c.2847_2848delTG |
| 0022 | RDEB Severe | COL7A1 | c.4888C>T | COL7A1 | c.3625_3635del |
| 0332 | RDEB Severe | COL7A1 | c.4894C>T | COL7A1 | ds IVS64+1G>A |
| 0441 | RDEB Severe | COL7A1 | c.4949dup | COL7A1 | c.4949dup |
| 0270 | RDEB Severe | COL7A1 | c.4984delG | COL7A1 | c.4984delG |
| 0281 | RDEB Severe | COL7A1 | c.500_501insAGGG | COL7A1 | c.5196delC |
| 0510 | RDEB Severe | COL7A1 | c.5047C>T | COL7A1 | c.5196del |
| 0542 | RDEB Severe | COL7A1 | c.5047C>T | COL7A1 | c.1633C>T |
| 0220 | RDEB Severe | COL7A1 | c.5047C>T | COL7A1 | c.8519_8523delAGGAG |
| 0687 | RDEB Severe | COL7A1 | c.5188C>T | COL7A1 | c.7327G>A |
| 0716 | RDEB Severe | COL7A1 | c.5287C>T | COL7A1 | c.3232_3240del |
| 0667 | RDEB Severe | COL7A1 | c.5324del | COL7A1 | c.1573C>T |
| 0299 | RDEB Severe | COL7A1 | c.544G>T | COL7A1 | c.1573C>T |
| 0752 | RDEB Severe | COL7A1 | c.5533G>A | COL7A1 | c.4888dupC |
| 0377 | RDEB Severe | COL7A1 | c.553C>T | COL7A1 | c.2318_2321dup |
| 0782 | RDEB Severe | COL7A1 | c.5924_5927del | COL7A1 | c.5924_5927del |
| 0195 | RDEB Severe | COL7A1 | c.5959C>T | COL7A1 | c.8272delG |
| 0256 | RDEB Severe | COL7A1 | c.6081_6081delC | COL7A1 | c.6859G>A |
| 0266 | RDEB Severe | COL7A1 | c.6081_6081delC | COL7A1 | c.3701_3702del |
| 0386 | RDEB Severe | COL7A1 | c.6187C>T | COL7A1 | c.676C>T |
| 0767 | RDEB Severe | COL7A1 | c.6188G>T | COL7A1 | c.1777del |
| 0397 | RDEB Severe | COL7A1 | c.6438_6439insAGA GCCTGGACCGAGG | COL7A1 | c.6048_6055del |
| 0369 | RDEB Severe | COL7A1 | c.6501G>A | COL7A1 | c.846+2T>C |
| 0409 | RDEB Severe | COL7A1 | c.6620G>A | COL7A1 | c.7316insC |
| 0261 | RDEB Severe | COL7A1 | c.6781C>T | COL7A1 | c.8335G>T |
| 0648 | RDEB Severe | COL7A1 | c.6831+3A>G | COL7A1 | c.6421G>A |
| 0351 | RDEB Severe | COL7A1 | c.6994C>T | COL7A1 | c.6994C>T |
| 0267 | RDEB Severe | COL7A1 | c.7012C>T | COL7A1 | c.7288_7288delC |
| 0777 | RDEB Severe | COL7A1 | c.7024G>A | COL7A1 | c.1615del |
| 0745 | RDEB Severe | COL7A1 | c.7105G>A | COL7A1 | c.4954G>A |
| 0196 | RDEB Severe | COL7A1 | c.7234C>T | COL7A1 | c.846+2T>C |
| 0669 | RDEB Severe | COL7A1 | c.7273-1G>A | COL7A1 | c.2701C>T |
| 0029 | RDEB Severe | COL7A1 | c.7289dupC | COL7A1 | c.3625_3635del |
| 0250 | RDEB Severe | COL7A1 | c.7316_7331del | COL7A1 | c.2511_2512ins26 |
| 0729 | RDEB Severe | COL7A1 | c.7504G>A | COL7A1 | c.3942dupG |
| 0543 | RDEB Severe | COL7A1 | c.7621C>T | COL7A1 | c.2722C>T |
| 0131 | RDEB Severe | COL7A1 | c.7720_7721insG | COL7A1 | c.313_1834del |
| 0731 | RDEB Severe | COL7A1 | c.7828C>T | COL7A1 | c.450del |
| 0512 | RDEB Severe | COL7A1 | c.7989delG | COL7A1 | c.1732C>T |
| 0638 | RDEB Severe | COL7A1 | c.8047-1G>C | COL7A1 | c.6618+2T>C |
| 0274 | RDEB Severe | COL7A1 | c.8053C>T | COL7A1 | c.8272delG |
| 0655 | RDEB Severe | COL7A1 | c.8053C>T | COL7A1 | c.2689_2692del |
| 0459 | RDEB Severe | COL7A1 | c.8053C>T | COL7A1 | c.8053C>T |
| 0761 | RDEB Severe | COL7A1 | c.8110-2A>T | COL7A1 | c.1201del |
| 0024 | RDEB Severe | COL7A1 | c.8227-1G>A | COL7A1 | c.1636+1G>A |
| 0639 | RDEB Severe | COL7A1 | c.8227-1G>A | COL7A1 | c.3625_3635del |
| 0232 | RDEB Severe | COL7A1 | c.8227-1G>A | COL7A1 | c.2521_2536del |
| 0513 | RDEB Severe | COL7A1 | c.8272del | COL7A1 | c.846+2T>C |
| 0612 | RDEB Severe | COL7A1 | c.8272del | COL7A1 | c.8272del |
| 0161 | RDEB Severe | COL7A1 | c.8272delG | COL7A1 | c.8299G>T |
| 0208 | RDEB Severe | COL7A1 | c.8272delG | COL7A1 | c.5287C>T |
| 0230 | RDEB Severe | COL7A1 | c.8272delG | COL7A1 | c.7929+17_7929+31 delinsA |
| 0072 | RDEB Severe | COL7A1 | c.8276_8285del | COL7A1 | c.8276_8285del |
| 0255 | RDEB Severe | COL7A1 | c.8278G>A | COL7A1 | c.7137delT |
| 0350 | RDEB Severe | COL7A1 | c.8278G>A | COL7A1 | c.6527del |
| 0237 | RDEB Severe | COL7A1 | c.8278G>A | COL7A1 | c.7723G>C |
| 0711 | RDEB Severe | COL7A1 | c.8335G>T | COL7A1 | c.8226+1G>T |
| 0569 | RDEB Severe | COL7A1 | c.846+2T>C | COL7A1 | c.1732C>T |
| 0074 | RDEB Severe | COL7A1 | c.846+2T>C | COL7A1 | c.6081delC |
| 0597 | RDEB Severe | COL7A1 | c.846+2T>C | COL7A1 | not found |
| 0110 | RDEB Severe | COL7A1 | c.846+2T>C | COL7A1 | c.4300delC |
| 0162 | RDEB Severe | COL7A1 | c.846+2T>C | COL7A1 | 111-118 exon lost |
| 0813 | RDEB Severe | COL7A1 | c.8528-1G>A | COL7A1 | c.5441G>A |
| 0791 | RDEB Severe | COL7A1 | c.8556C>A | COL7A1 | c.7234C>T |
| 0770 | RDEB Severe | COL7A1 | c.8569G>T | COL7A1 | c.5326G>A |
| 0779 | RDEB Severe | COL7A1 | c.8569G>T | COL7A1 | c.6091G>A |
| 0601 | RDEB Severe | COL7A1 | c.8569G>T | COL7A1 | c.8227-1G>A |
| 0637 | RDEB Severe | COL7A1 | c.8569G>T | COL7A1 | c.8296G>A |
| 0206 | RDEB Severe | COL7A1 | c.8569G>T | COL7A1 | c.495dupG |
| 0756 | RDEB Severe | COL7A1 | c.8569G>T | COL7A1 | c.7723G>C |
| 0507 | RDEB Severe | COL7A1 | c.8569G>T | COL7A1 | c.7234C>T |
| 0630 | RDEB Severe | COL7A1 | c.8621-30A>G | COL7A1 | c.7234C>T |
| 0341 | RDEB Severe | COL7A1 | c.8700del | COL7A1 | c.6217-2A>G |
| 0395 | RDEB Severe | COL7A1 | c.977-14G>A | COL7A1 | c.5154+2T>C |
| 0091 | RDEB Severe | COL7A1 | c.C5188T | COL7A1 | c.C5188T |
| 0762 | RDEB Severe | COL7A1 | c8066G>A | COL7A1 | c.5318dupC |
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