EB患者突变数据库 EB patients mutation database

EB Patients Mutation List

ID(show) Subtype,类型和亚型 Gene1 Mutation1 Gene2 Mutation2
0358 DDEB COL7A1 c.5659G>A
0152 DDEB COL7A1 c.5982-2A>G
0225 DDEB COL7A1 c.6082G>A
0488 DDEB COL7A1 c.6082G>A
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