Col7a1 Mutations for Dystropic EB

DNA	Type
c. 238G>A	missense
c. 3301C>T	Missense
c. 353delG	PTC
c. 3602G>A	missense
c. 4018C>T	nonsense
c. 4027C>T	Nonsense
c. 409C>T	nonsense
c. 4888C>T	nonsense
c. 4894C>T	nonsense
c. 5047C>T	nonsense
c. 5287C>T	nonsense
c. 5314C>T	missense
c. 553C>T	nonsense
c. 5870G>A	missense
c. 5932C>T	nonsense
c. 6022C>T	missense
c. 6022C>G	missense
c. 6180G>A	missense
c. 6187C>G	missense
c. 6187C>T	missense
c. 6205G>A	missense
c. 6781C>T	nonsense
c. 6889G>T	missense
c. 8102G>A	Missense
c. 7012C>T	nonsense
c. 706C>T	nonsense
c. 7272C>T	nonsense
c. 7411C>T	nonsense
c. 751C>T	nonsense
c. 7828C>T	nonsense
c. 7865G>A	missense
c. 7864C>T	missense
c. 8053C>T	nonsense
c. 8233C>T	nonsense
c. 8371C>T	missense
c. 8440C>T	nonsense
c. 1264dupC	Framshift/PTC
c. 1573C>T	Nonsense
c. 1732C>T	Nonsense
c. 1873C>T	PTC
c. 2005C>T	Nonsense
c. 2044C>T	PTC
c. 2729G>A	Missense
c. 344dupG	PTC
c. 4767delA	PTC
c. 7547_7551dupA	PTC
c. 120G>A	Missense
c. 1911T>C	Missense
c. 6527dupC	PTC
c. 4588C>T	nonsense
c. 479dupA	PTC
c. 565C>T	Nonsense
c. 5771A>G	Missense
c. 6215A>G	Missense
c. 6508C>T	nonsense
c. 7249C>T	Nonsense
c. 793C>T	nonsense
c. 841C>T	Nonsense
c. 8479C>T	Nonsense
c. 1921C>T	Nonsense
c. 7371insA	Missense
c. 3631C>T	nonsense
c. 4602G>T	Missense
c. 6100G>A	Missense
c. 6103delG	PTC
c. 8569G>T	Nonsense
c. 4012G>A	Missense
c. 4172_4173insC	PTC
c. 4198delG	PTC
c. 4448G>A	Missense
c. 4520G>T	Missense
c. 448G>A	Missense
c. 4546G>A	Missense
c. 4565G>A	Missense
c. 4669G>A	missense
c. 4573G>A	missense
c. 4714G>A	Missense
c. 4783G>C	Missense
c. 4864G>C	Missense
c. 4864G>C	missense
c. 5572delG	Missense
c. 5155G>C	Missense
c. 5291G>A	Missense
c. 5300G>A	Missense
c. 5659G>A	missense
c. 5720G>A	Missense
c. 6016G>A	Missense
c. 6025G>A	missense
c. 6082G>A	Missense
c. 6081insC	PTC
c. 6091G>A	Missense
c. 6101G>C	Missense
c. 6110G>A	Missense
c. 6119G>T	Missense
c. 6118G>A	Missense
c. 6127G>A	Missense
c. 6128G>A	Missense
c. 6137G>T	Missense
c. 6146G>A	Missense
c. 6044G>A	Missense
c. 6163G>A	Missense
c. 6164G>A	Missense
c. 6182G>T	Missense
c. 6190G>A	Missense
c. 6191G>A	Missense
c. 6209G>A	Missense
c. 6217G>A	missense
c. 6218G>A	Missense
c. 6227 G>A	Missense
c. 6235 G>A	Missense
c. 6236 G>A	Missense
c. 6358G>A	missense
c. 6395 G>A	Missense
c. 6574 G>A	Missense
c. 6601G>A	missense
c. 6619G>C	Missense
c. 6638delG	PTC
c. 6646G>T	nonsense
c. 6716G>A	Missense
c. 6724G>A	Missense
c. 6725G>A	Missense
c. 6752G>A	Missense
c. 6788G>A	Missense
c. 6788G>A	Missense
c. 6859G>A	Missense
c. 7042G>C	Missense
c. 7051G>A	Missense
c. 7957G>A	Missense
c. 7097G>C	Missense
c. 7096G>T	Missense
c. 7097G>T	Missense
c. 7237G>A	Missense
c. 7289dupC	PTC
c. 7442G>A	missense
c. 7512_7513insA	PTC
c. 7723G>A	Missense
c. 7768G>C	Missense
c. 7769G>A	Missense
c. 7805G>A	Missense
c. 8013G>T	Missense
c. 8020G>C	Missense
c. 8021G>A	Missense
c. 8038G>A	Missense
c. 8083G>A	Missense
c. 8137G>A	Missense
c. 8165G>A	Missense
c. 8219G>C	Missense
c. 8227G>A	Missense
c. 8245G>A	Missense
c. 8278G>A	Missense
c. 8279G>A	missense
c. 8323G>A	Missense
c. 925_944dup	PTC
c. 4274T>C	missense
c. 5124G>A	sysnomous
c. 611T>G	Missense
c. 6238C>T	missense
c. 191T>C	missense
c. 2226insT	Framshift/PTC
c. 425A>G	Missense
c. 5856G>A	Missense
c. 8393T>A	Missense
c. 2449 A>G	Missense
c. 2471dupG	Framshift/PTC
c. 3386delC	PTC
c. 4997dupG	PTC
c. 4011G>A	Missense
c. 4228C>T	Missense
c. 4295insC	PTC
c. 5662insG	PTC
c. 5820G>A	synonymous
c. 5819C>T	missense
c. 8133C>T	Missense
c. 7313C>T	Missense
c. 1370C>T	Missense
c. 7313C>G	Missense
c. 6818G>A	missense
c. 356_357delCA	PTC
c. 2387G>A	Nonsense
c. 2699G>A	Nonsense
c. 2927G>A	Nonsense
c. 6501G>A	nonsense
c. 5131insCTCAC	nonsense
c. 933C>T	synonymous
c. 3474del	Nonsense
c. 4879G>A	missense
c. 497dupA	PTC
c. 642dup	PTC
c. 7344G>A	synonymous
c. 6181C>G	missense
c. 1358-1G>A	Splice
c. 1452_1453del	Frameshift
c. 1474del8	Frameshift/PTC
c. 1507+1G>C	Splice
c. 1615_1665del51	Frameshift/PTC
c. 1633C>T	PTC
c. 1842-2A>C	Splice
c. 2710+1G>A	Splice
c. 2858_2859del	Framshift
c. 3277-1G>C	Splice
c. 3551-3T>G	splice
c. 3625_3635del	PTC
c. 3832-1G>A	splice
c. 3839delC	PTC
c. 3G>A	nonsense
c. 4048-1G>A	splice
c. 4119+1G>T	splice
c. 4249delA	PTC
c. 426+1G>A	splice
c. 434insGCAT	PTC
c. 4518+2delT	PTC
c. 4818+18A>T	splice
c. 5097+1G>C	splice
c. 5236-23A>G	PTC
c. 5261insC	insertions
c. 5265G>A	Missense
c. 5281-2A>G	splice
c. 5532+5G>A	splice
c. 5604+2G>C	splice
c. 5818delC	PTC
c. 5888G>A
c. 5924_5927del	PTC
c. 5982-2A>G	splice
c. 6017_6019del	PTC
c. 6075delC	PTC
c. 6268_6269del	PTC
c. 6329dup	PTC
c. 6339delG	PTC
c. 6341delG	PTC
c. 6501+1G>C	splice
c. 6573+1G>C	splice
c. 6573+1G>T	splice
c. 6619-2A>C	splice
c. 6751-1G>A	splice
c. 682+1G>A	splice
c. 6831+3A>G	splice
c. 6900+1delG	PTC
c. 6900G>A	missense
c. 7759-19del15ins4	insertion/deletion
c. 7786delG	PTC
c. 7795-1G>A	splice
c. 7876_7902del	PTC
c. 7930-1G>C	splice
c. 8046+1G>T	splice
c. 8069del17incG>A	insertion/deletion
c. 8109+2T>A	splice
c. 8244insC	splice
c. 8358+1G>C	splice
c. 847-1G>T	splice
c. 976+1G>A	splice
c. IVS21-2A>G	splice
c. IVS39+5G>C	splice
c. IVS41-1G>C	splice
c. 4824_4831del	PTC

PTC- Premature Termination Codon 

These are all the Col7a1 mutations I have come upon over the years. If you have mutations you'd like to add, please reach out!