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 |
|
|
0329 |
DDEB |
COL7A1 |
c.6100G>A |
|
|
0155 |
DDEB |
COL7A1 |
c.6100G>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 |
|
|
0634 |
DDEB and RDEB Localized |
COL7A1 |
c.6502-18_6502-17del |
COL7A1 |
c.6198_6199delins GGGAGAACG GGGAGAGAAAA |
0448 |
DDEB Intermediate |
COL7A1 |
c.5265G>A |
|
|
0553 |
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 |
|
|
0402 |
DDEB Intermediate |
COL7A1 |
c.6100G>A |
|
|
0445 |
DDEB Intermediate |
COL7A1 |
c.6127G>A |
|
|
0235 |
DDEB Intermediate |
COL7A1 |
c.6128G>A |
|
|
0473 |
DDEB Intermediate |
COL7A1 |
c.6209G>A |
|
|
0025 |
DDEB Intermediate |
COL7A1 |
c.6227G>A |
|
|
0226 |
DDEB Intermediate |
COL7A1 |
c.7097G>C |
|
|
0615 |
DDEB intermediate |
COL7A1 |
c.8147G>A |
|
|
0184 |
DDEB Intermediate |
COL7A1 |
c.8165G>A |
|
|
0153 |
DDEB Intermediate |
COL7A1 |
c.G6127A |
|
|
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 |
|
|
0031 |
DDEB Localized |
COL7A1 |
c.6127G>A |
|
|
0067 |
DDEB Localized |
COL7A1 |
c.6127G>A |
|
|
0580 |
DDEB Localized |
COL7A1 |
c.7106G>A |
|
|
0353 |
DDEB Localized |
COL7A1 |
c.G6127A |
|
|
0165 |
DDEB Localized |
COL7A1 |
c.G6127A |
|
|
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 |
|
|
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 |
|
|
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 |
|
|
0579 |
DDEB pruriginosa |
COL7A1 |
CNV |
|
|
0323 |
DDEB self-improving |
COL7A1 |
c.5000G>A |
|
|
0322 |
DDEB self-improving |
COL7A1 |
c.5027G>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 |
|
|
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 |
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 |
|
|
0146 |
EBS |
KRT14 |
c.364C>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 |
|
|
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 |
0521 |
EBS Intermediate |
KRT14 |
c.1105C>T |
KRT14 |
c.1105C>T |
0571 |
EBS Intermediate |
KRT14 |
c.1131dup |
|
|
0511 |
EBS Intermediate |
KRT14 |
c.1240A>C |
|
|
0433 |
EBS Intermediate |
KRT14 |
c.1243T>G |
|
|
0233 |
EBS Intermediate |
KRT14 |
c.1244_1253del |
|
|
0508 |
EBS Intermediate |
KRT14 |
c.356T>G |
|
|
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 |
|
|
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 |
|
|
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 |
|
|
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 |
|
|
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 |
|
|
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 |
|
|
0618 |
EBS Intermediate |
KRT5 |
c.974T>C |
|
|
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 |
|
|
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 |
0365 |
EBS Localized |
KRT14 |
c.1250_1252dup |
|
|
0516 |
EBS Localized |
KRT14 |
c.373C>T |
|
|
0608 |
EBS Localized |
KRT14 |
c.398T>C |
|
|
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 |
|
|
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 |
|
|
0194 |
EBS Localized |
KRT5 |
c.556G>A |
|
|
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 |
|
|
0425 |
EBS Severe |
KRT14 |
c.524T>C |
|
|
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... |
|
|
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 |
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 |
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 |
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 |
0392 |
JEB Intermediate |
COL17A1 |
c.422_433dup11 |
COL17A1 |
c.1141+5G>A |
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 |
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 |
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 |
0493 |
JEB Severe |
LAMA3 |
c.1450C>T |
LAMA3 |
c.2727T>G |
0118 |
JEB Severe |
LAMA3 |
c.1478+5G>A |
LAMA3 |
c.4647+5G>C |
0509 |
JEB Severe |
LAMA3 |
c.4042C>T |
LAMA3 |
c.748C>T |
0470 |
JEB Severe |
LAMB3 |
c.1172_1173delCC |
LAMB3 |
c.2188C>T |
0357 |
JEB Severe |
LAMB3 |
c.1608_1906del |
LAMB3 |
c.1608_1906del |
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 |
0334 |
JEB with pyloric atresia |
ITGB4 |
c.794dupC |
ITGB4 |
c.907G>T |
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 |
|
|
0240 |
RDEB Intermediate |
COL17A1 |
c.2975C>A |
COL17A1 |
c.427C>T |
0035 |
RDEB Intermediate |
COL17A1 |
c.4159C>T |
COL7A1 |
c.2635C>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 |
0253 |
RDEB Intermediate |
COL7A1 |
c.130G>A |
COL7A1 |
c.6836C>A |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
0249 |
RDEB Intermediate |
COL7A1 |
c.4444_4445incC |
COL7A1 |
c.5791G>A |
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 |
0527 |
RDEB Intermediate |
COL7A1 |
c.4661G>A |
COL7A1 |
c.4899+31G>A |
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 |
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 |
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 |
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 |
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 |
0413 |
RDEB Intermediate |
COL7A1 |
c.6187C>T |
COL7A1 |
c.6187C>T |
0575 |
RDEB Intermediate |
COL7A1 |
c.6190G>T |
COL7A1 |
c.7075G>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 |
0079 |
RDEB Intermediate |
COL7A1 |
c.6750+1_6750+3del |
COL7A1 |
c.G7051A |
0411 |
RDEB Intermediate |
COL7A1 |
c.682+1G>A |
COL7A1 |
c.6187C>T |
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 |
0030 |
RDEB Intermediate |
COL7A1 |
c.6994C>T |
COL7A1 |
c.2785C>T |
0347 |
RDEB Intermediate |
COL7A1 |
c.7012C>T |
COL7A1 |
c.7615G>T |
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 |
0263 |
RDEB Intermediate |
COL7A1 |
c.7234C>T |
COL7A1 |
c.3595C>T |
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 |
0547 |
RDEB Intermediate |
COL7A1 |
c.7607G>T |
COL7A1 |
c.1337T>C |
0238 |
RDEB Intermediate |
COL7A1 |
c.7828C>T |
COL7A1 |
c.1892G>A |
0640 |
RDEB intermediate |
COL7A1 |
c.7859G>T |
COL7A1 |
c.7657C>T |
0430 |
RDEB Intermediate |
COL7A1 |
c.7876-2A>G |
COL7A1 |
c.7096G>A |
0049 |
RDEB Intermediate |
COL7A1 |
c.7929G>A |
COL7A1 |
c.3625_3635del |
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 |
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 |
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 |
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 |
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 |
0213 |
RDEB Intermediate |
COL7A1 |
c.8569G>T |
COL7A1 |
c.8272delG |
0214 |
RDEB Intermediate |
COL7A1 |
c.8569G>T |
COL7A1 |
c.4522_4532del |
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 |
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 |
0015 |
RDEB Localized |
COL7A1 |
c.1732C>T |
COL7A1 |
c.4162delC |
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 |
0452 |
RDEB Localized |
COL7A1 |
c.8569G>T |
COL7A1 |
c.8038G>A |
0462 |
RDEB Localized |
COL7A1 |
c.8621-30A>G |
COL7A1 |
c.8621-30A>G |
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 |
|
|
0366 |
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 |
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 |
COL17A1 |
c.4232dup |
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 |
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 |
0299 |
RDEB Severe |
COL7A1 |
c.544G>T |
COL7A1 |
c.1573C>T |
0377 |
RDEB Severe |
COL7A1 |
c.553C>T |
COL7A1 |
c.2318_2321dup |
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 |
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 |
0351 |
RDEB Severe |
COL7A1 |
c.6994C>T |
COL7A1 |
c.6994C>T |
0267 |
RDEB Severe |
COL7A1 |
c.7012C>T |
COL7A1 |
c.7288_7288delC |
0196 |
RDEB Severe |
COL7A1 |
c.7234C>T |
COL7A1 |
c.846+2T>C |
0029 |
RDEB Severe |
COL7A1 |
c.7289dupC |
COL7A1 |
c.3625_3635del |
0250 |
RDEB Severe |
COL7A1 |
c.7316_7331del |
COL7A1 |
c.2511_2512ins26 |
0543 |
RDEB Severe |
COL7A1 |
c.7621C>T |
COL7A1 |
c.2722C>T |
0131 |
RDEB Severe |
COL7A1 |
c.7720_7721insG |
COL7A1 |
c.313_1834del |
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 |
0459 |
RDEB Severe |
COL7A1 |
c.8053C>T |
COL7A1 |
c.8053C>T |
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 |
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 |
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 |
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 |