| 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 |
|
|
| 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 |
|
|
| 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 |
|
|
| 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 |
| 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 |
|
|
| 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 |
|
|
| 0290 |
EBS Intermediate |
KRT14 |
c.373C>T |
|
|
| 0557 |
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 |
|
|
| 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 |
|
|
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
