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
0329 DDEB COL7A1 c.6100G>A
0155 DDEB COL7A1 c.6100G>A
0006 DDEB COL7A1 c.6217G>A
0099 DDEB COL7A1 c.G4573A
0083 DDEB COL7A1 c.G7097T
0360 DDEB Intermediate COL7A1 c.6017_6019del
0235 DDEB Intermediate COL7A1 c.6128G>A
0025 DDEB Intermediate COL7A1 c.6227G>A
0226 DDEB Intermediate COL7A1 c.7097G>C
0184 DDEB Intermediate COL7A1 c.8165G>A
0153 DDEB Intermediate COL7A1 c.G6127A
0159 DDEB Localized COL7A1 c.5282G>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
0353 DDEB Localized COL7A1 c.G6127A
0165 DDEB Localized COL7A1 c.G6127A
0231 DDEB pruriginosa COL7A1 c.4573G>A
0336 DDEB pruriginosa COL7A1 c.5300G>A
0375 DDEB pruriginosa COL7A1 c.6082G>A
0371 DDEB pruriginosa COL7A1 c.6091G>C
0011 DDEB pruriginosa COL7A1 c.6900+1G>C
0243 DDEB pruriginosa COL7A1 c.6900+3G>C
0036 DDEB pruriginosa COL7A1 c.7428delG
0323 DDEB self-improving COL7A1 c.5000G>A
0322 DDEB self-improving COL7A1 c.5027G>A
0066 DDEB self-improving COL7A1 c.6091G>A
0367 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
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
0063 EBS KRT14 c.1223T>A
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
0233 EBS Intermediate KRT14 c.1244_1253del
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
0290 EBS Intermediate KRT14 c.373C>T
0057 EBS Intermediate KRT14 c.373C>T
0058 EBS Intermediate KRT14 c.373C>T
0062 EBS Intermediate KRT14 c.373C>T
0077 EBS Intermediate KRT14 c.373C>T
0087 EBS Intermediate KRT14 c.373C>T
0097 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
0288 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
0191 EBS Intermediate KRT14 c.374G>A
0219 EBS Intermediate KRT14 c.374G>A
0143 EBS Intermediate KRT14 c.374G>T
0190 EBS Intermediate KRT14 c.382T>C
0216 EBS Intermediate KRT14 c.730_750del
0071 EBS Intermediate KRT14 c.G1231A
0193 EBS Intermediate KRT5 c.1401C>G
0060 EBS Intermediate KRT5 c.1409A>G
0306 EBS Intermediate KRT5 c.1437C>A
0032 EBS Intermediate KRT5 c.495G>T
0300 EBS Intermediate KRT5 c.555+1G>A
0284 EBS Intermediate KRT5 c.555+2T>A
0134 EBS Intermediate KRT5 c.555+2T>G
0294 EBS Intermediate with cardiomyopathy KLHL24 c.1A>G
0151 EBS Intermediate with cardiomyopathy KLHL24 c.1A>G
0293 EBS Intermediate with cardiomyopathy KLHL24 c.3G>A
0307 EBS Intermediate with muscular dystrophy PLEC c.5545G>T PLEC c.979G>A
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
0038 EBS Localized KRT14 C428C>T
0373 EBS Localized KRT5 c.1072G>T
0309 EBS Localized KRT5 c.1261G>A
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
0112 EBS Severe KRT14 c.1158_1159ins...
0140 EBS Severe KRT14 c.1429G>A
0296 EBS Severe KRT14 c.364C>T
0065 EBS Severe KRT14 c.367T>G
0302 EBS Severe KRT14 c.373C>T
0316 EBS Severe KRT14 c.373C>T
0043 EBS Severe KRT14 c.374G>A
0198 EBS Severe KRT14 c.374G>A
0362 EBS Severe KRT5 c.1423G>T
0003 EBS Severe KRT5 c.1429G>A
0318 EBS Severe KRT5 c.1429G>A
0339 EBS Severe KRT5 c.1429G>A
0158 EBS Severe KRT5 c.1429G>A
0148 EBS Severe KRT5 c.472_483delGACCC CAGCATC
0298 EBS Severe KRT5 c.511-513delCAG
0204 EBS Severe KRT5 c.515T>A
0056 EBS Severe KRT5 c.524T>C
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...
0100 JEB LAMB3 c.C124T LAMB3 c.G3512A
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
0337 JEB Intermediate COL17A1 c.1873C>T COL17A1 c.1873C>T
0200 JEB Intermediate COL17A1 c.2350C>T COL17A1 c.2875delC
0008 JEB Intermediate COL17A1 c.2383C>T COL17A1 c.558_567del
0105 JEB Intermediate COL17A1 c.3801insC COL17A1 c.3801insC
0027 JEB Intermediate COL17A1 c.4011T>A COL17A1 c.3071-6C>A
0338 JEB Intermediate COL17A1 c.4156+1G>A COL17A1 c.2496dupT
0317 JEB Intermediate COL17A1 c.505C>T COL17A1 c.2736_2737delinsA
0177 JEB Intermediate COL17A1 c.997C>T COL17A1 c.3481dupT
0355 JEB Intermediate COL7A1 c.8569G>T COL7A1 c.7245G>A
0084 JEB Intermediate ITGB4 c.2291T>C ITGB4 gene lost
0291 JEB Intermediate ITGB4 c.3931G>G/T not found
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
0114 JEB Intermediate LAMB3 c.124C>T LAMB3 c.3512G>A
0262 JEB Intermediate LAMB3 c.1390C>T LAMB3 c.1178_1179del ACinsGTGCAAGAG
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
0016 JEB Intermediate LAMB3 c.C1507T LAMB3 c.G3512A
0364 JEB Intermediate LAMC2 c.191_192dup LAMC2 c.212_214delinsCC
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
0118 JEB Severe LAMA3 c.1478+5G>A LAMA3 c.4647+5G>C
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
0145 JEB Severe LAMB3 c.2188C>T LAMB3 c.1705C>T
0172 JEB Severe LAMB3 c.2728C>T LAMB3 c.9066G>A
0283 JEB Severe LAMB3 c.2914C>T LAMB3 c.2188C>T
0186 JEB Severe LAMB3 c.3119G>A LAMB3 c.3119G>A
0222 JEB Severe LAMB3 c.3163del LAMB3 c.2170C>T
0125 JEB Severe LAMB3 c.629-12T>A LAMB3 c.3119G>A
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
0286 JEB with pyloric atresia ITGB4 c.1684T>C ITGB4 c.3719G>A
0334 JEB with pyloric atresia ITGB4 c.794dupC ITGB4 c.907G>T
0301 Kindler Syndrome FERMT1 c.1192_1194delinsAT ACATACTTT FERMT1 c.811C>T
0160 Kindler Syndrome FERMT1 c.277C>T FERMT1 c.277C>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
0253 RDEB Intermediate COL7A1 c.130G>A COL7A1 c.6836C>A
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
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
0282 RDEB Intermediate COL7A1 c.1732C>T COL7A1 c.5605G>C
0115 RDEB Intermediate COL7A1 c.1837C>T COL7A1 c.2321_2322insCTGA
0137 RDEB Intermediate COL7A1 c.2005C>T COL7A1 as IVS109-1G>C
0154 RDEB Intermediate COL7A1 c.2035delA COL7A1 c.8569G>T
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
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
0142 RDEB Intermediate COL7A1 c.3277-1G>A COL7A1 c.8272_8272delG
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
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
0229 RDEB Intermediate COL7A1 c.3625_3635delTCTGT CCAGAC c.6205C>T p.R2069C
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
0212 RDEB Intermediate COL7A1 c.4027C>T COL7A1 c.8584G>T
0089 RDEB Intermediate COL7A1 c.4042G>T COL7A1 c.5499C>T
0304 RDEB Intermediate COL7A1 c.4088delT COL7A1 c.8569G>T
0054 RDEB Intermediate COL7A1 c.4089delT COL7A1 c.3625_3635del
0171 RDEB Intermediate COL7A1 c.4128delT COL7A1 c.8234G>A
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
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
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
0064 RDEB Intermediate COL7A1 c.4668+1G>C COL7A1 c.211G>A
0285 RDEB Intermediate COL7A1 c.4705G>A COL7A1 c.6074G>T
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
0013 RDEB Intermediate COL7A1 c.5164_5179dup COL7A1 c.4665_4667delAAA insCGG
0273 RDEB Intermediate COL7A1 c.5188C>G COL7A1 c.6994C>T
0034 RDEB Intermediate COL7A1 c.5314C>T COL7A1 c.3625_3635del
0308 RDEB Intermediate COL7A1 c.5344G>A COL7A1 c.7097delG
0128 RDEB Intermediate COL7A1 c.5410_5411insG COL7A1 c.8569G>T
0123 RDEB Intermediate COL7A1 c.5477delC COL7A1 c.7474C>T
0122 RDEB Intermediate COL7A1 c.5532+5G>A not found
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
0325 RDEB Intermediate COL7A1 c.5821-2A>C COL7A1 c.3625_3635del
0209 RDEB Intermediate COL7A1 c.5869C>T COL7A1 c.4303del
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
0227 RDEB Intermediate COL7A1 c.6048_6076del COL7A1 c.6831+1G>T
0136 RDEB Intermediate COL7A1 c.6187C>T COL7A1 g.30258A>G
0247 RDEB Intermediate COL7A1 c.628+1G>A COL7A1 c.5532+5G>A
0321 RDEB Intermediate COL7A1 c.6512G>A COL7A1 c.6920G>T
0254 RDEB Intermediate COL7A1 c.6528delT COL7A1 c.8569G>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
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
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
0108 RDEB Intermediate COL7A1 c.7051G>A COL7A1 c.5797C>T
0199 RDEB Intermediate COL7A1 c.7097G>T COL7A1 c.8528-11_8528-9delCCT
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
0238 RDEB Intermediate COL7A1 c.7828C>T COL7A1 c.1892G>A
0049 RDEB Intermediate COL7A1 c.7929G>A COL7A1 c.3625_3635del
0070 RDEB Intermediate COL7A1 c.8047-1G>A COL7A1 c.143C>T
0055 RDEB Intermediate COL7A1 c.8278G>A COL7A1 c.8278G>A
0276 RDEB Intermediate COL7A1 c.8329C>T COL7A1 c.8767delG
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
0331 RDEB Intermediate COL7A1 c.846+2T>C COL7A1 c.C1407G
0168 RDEB Intermediate COL7A1 c.848T>C COL7A1 c.6081delC
0102 RDEB Intermediate COL7A1 c.85+2T>G COL7A1 c.8461_8483del
0258 RDEB Intermediate COL7A1 c.8569G>T COL7A1 c.8371delC
0040 RDEB Intermediate COL7A1 c.8569G>T COL7A1 c.2992+2T>G
0340 RDEB Intermediate COL7A1 c.8569G>T COL7A1 c.5461G>A
0346 RDEB Intermediate COL7A1 c.8569G>T COL7A1 c.2005C>T
0370 RDEB Intermediate COL7A1 c.8569G>T COL7A1 c.8003del
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
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
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
0221 RDEB Inversa COL7A1 c.4322dupC COL7A1 c.6205C>T
0246 RDEB Inversa COL7A1 c.6022C>T COL7A1 lost
0210 RDEB Inversa COL7A1 c.6205C>T COL7A1 c.8272_8272delG
0015 RDEB Localized COL7A1 c.1732C>T COL7A1 c.4162delC
0094 RDEB Localized COL7A1 c.2638dupG COL7A1 c.1582T>C
0053 RDEB Localized COL7A1 c.4089delT COL7A1 c.5560G>A
0048 RDEB Localized COL7A1 c.4666_4667delAAinsGG COL7A1 c.4665A>C
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
0315 RDEB Localized COL7A1 c.8228delG COL7A1 c.8764C>T
0061 RDEB Localized COL7A1 c.846+2T>C COL7A1 c.5522delA
0356 RDEB Localized COL7A1 c.8485_8510del COL7A1 c.4665_4667delinsCGG
0082 RDEB Localized COL7A1 c.C4027T COL7A1 c.G4439A
0073 RDEB Localized COL7A1 c.G4546A COL7A1 c.6715-1G>A
0343 RDEB Localized COL7A1 c.G6127A COL7A1 c.G4343T
0305 RDEB pruriginosa COL7A1 c.3551G>A COL7A1 c.5687del10
0127 RDEB pruriginosa COL7A1 c.5531dupA COL7A1 c.7270C>T
0366 RDEB pruriginosa COL7A1 c.8569G>T COL7A1 c.8569G>T
0272 RDEB pruriginosa COL7A1 c.G4420A COL7A1 c.7428delG
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
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
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
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
0135 RDEB Severe COL7A1 c.2992+2T>G COL7A1 c.2992+2T>G
0203 RDEB Severe COL7A1 c.2992+2T>G COL7A1 c.8038G>A
0098 RDEB Severe COL7A1 c.3624_3634delCTCTGTCCAGA COL7A1 c.7168-2A>G
0342 RDEB Severe COL7A1 c.3625_3635del COL7A1 c.3625_3635del
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
0111 RDEB Severe COL7A1 c.3916delC COL7A1 c.500_501insAGGG
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
0270 RDEB Severe COL7A1 c.4984delG COL7A1 c.4984delG
0281 RDEB Severe COL7A1 c.500_501insAGGG COL7A1 c.5196delC
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
0369 RDEB Severe COL7A1 c.6501G>A COL7A1 c.846+2T>C
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
0131 RDEB Severe COL7A1 c.7720_7721insG COL7A1 c.313_1834del
0274 RDEB Severe COL7A1 c.8053C>T COL7A1 c.8272delG
0024 RDEB Severe COL7A1 c.8227-1G>A COL7A1 c.1636+1G>A
0232 RDEB Severe COL7A1 c.8227-1G>A COL7A1 c.2521_2536del
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
0074 RDEB Severe COL7A1 c.846+2T>C COL7A1 c.6081delC
0110 RDEB Severe COL7A1 c.846+2T>C COL7A1 c.4300delC
0162 RDEB Severe COL7A1 c.846+2T>C COL7A1 111-118 exon lost
0206 RDEB Severe COL7A1 c.8569G>T COL7A1 c.495dupG
0341 RDEB Severe COL7A1 c.8700del COL7A1 c.6217-2A>G
0091 RDEB Severe COL7A1 c.C5188T COL7A1 c.C5188T

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