All transcript variants in gene COL7A1

Information The variants shown are described using the NM_000094.3 transcript reference sequence.

976 entries on 10 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
-?/. - c.-4551G>A r.(?) p.(=) - likely benign g.48637143C>T g.48599710C>T UQCRC1(NM_003365.2):c.1303G>A (p.(Glu435Lys)) - COL7A1_000566 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/? 1 c.3G>A r.(?) p.(Met1?) - pathogenic (recessive) g.48632590C>T g.48595157C>T - - COL7A1_000176 no initiation of translation PubMed: van den Akker 2009 - - Unknown - - - 0 - Peter van den Akker
+/? 1 c.3G>T r.(?) p.(Met1?) - pathogenic (recessive) g.48632590C>A g.48595157C>A - - COL7A1_000075 no initiation of translation PubMed: van den Akker 2009 - - Unknown - - - 0 - Peter van den Akker
+/? 1 c.3G>T r.(?) p.(Met1?) - pathogenic (recessive) g.48632590C>A g.48595157C>A - - COL7A1_000075 no initiation of translation PubMed: van den Akker 2009 - - Unknown - - - 0 - Peter van den Akker
+/? 1 c.3G>T r.(?) p.(Met1?) - pathogenic (recessive) g.48632590C>A g.48595157C>A - - COL7A1_000075 no initiation of translation PubMed: van den Akker 2009 - - Unknown - - - 0 - Peter van den Akker
-?/. - c.54G>C r.(?) p.(Ala18=) - likely benign g.48632539C>G g.48595106C>G COL7A1(NM_000094.3):c.54G>C (p.A18=) - COL7A1_000459 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-?/. - c.54G>C r.(?) p.(Ala18=) - likely benign g.48632539C>G g.48595106C>G COL7A1(NM_000094.3):c.54G>C (p.A18=) - COL7A1_000459 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
+/. - c.58C>T r.(?) p.(Arg20Ter) - pathogenic g.48632535G>A g.48595102G>A - - COL7A1_000536 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/? 1 c.58C>T r.(?) p.(Arg20*) - pathogenic (recessive) g.48632535G>A g.48595102G>A - - COL7A1_000068 premature termination codon {PMID:Pfendner 2003 Prenat Diagn 23:447:12813757} - - Unknown - - - 0 - Peter van den Akker
+/? 1 c.58_70del r.(?) p.(Arg20Serfs*6) - pathogenic (recessive) g.48632527_48632539del g.48595094_48595106del - - COL7A1_000149 premature termination codon {PMID:Escamez 2010 Br J Dermatol 163:155:20184583} - - Unknown - - - 0 - Peter van den Akker
+/? 1 c.62dup r.(?) p.(Arg22Alafs*17) - pathogenic (recessive) g.48632531dup g.48595098dup - - COL7A1_000065 premature termination codon; unknown variant 2nd chromosome PubMed: Kern 2006 - - Unknown - - - 0 - Peter van den Akker
-/. - c.89C>T r.(?) p.(Thr30Ile) - benign g.48631978G>A g.48594545G>A COL7A1(NM_000094.3):c.89C>T (p.T30I) - COL7A1_000565 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/? 2 c.111_112insA r.(?) p.(Asp38Argfs*50) - pathogenic (recessive) g.48631955_48631956insT g.48594522_48594523insT - - COL7A1_000081 premature termination codon PubMed: Gardella 2002 - - Unknown - - - 0 - Peter van den Akker
+/? 2 c.143C>T r.(?) p.(Ser48Phe) - pathogenic (recessive) g.48631924G>A g.48594491G>A - - COL7A1_000112 missense mutation {PMID:Jiang 2005 Br J Dermatol 152:1357:15949010} - - Unknown - - - 0 - Peter van den Akker
+/? 2 c.151C>G r.(?) p.(Arg51Gly) - pathogenic (recessive) g.48631916G>C g.48594483G>C - - COL7A1_000343 missense mutation {PMID:Drera 2006 Clin Genet 70:339:16965329} - - Unknown - - - 0 - Peter van den Akker
?/. - c.229G>A r.(?) p.(Val77Met) - VUS g.48631838C>T g.48594405C>T COL7A1(NM_000094.3):c.229G>A (p.V77M) - COL7A1_000458 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/? 2 c.238G>C r.(?) p.(Ala80Pro) - pathogenic (recessive) g.48631829C>G g.48594396C>G - - COL7A1_000098 missense mutation {PMID:Varki 2007 J Med Genet 44:181:16971478} - - Unknown - - - 0 - Peter van den Akker
+/? 2i c.267-3C>G r.spl p.(=) - pathogenic (recessive) g.48631132G>C g.48593699G>C - - COL7A1_000230 altered splicing > premature termination codon {PMID:Hovnanian 1997 Am J Hum Genet 61:599:09326325} - - Unknown - - - 0 - Peter van den Akker
+/? 2i c.267-1G>C r.spl p.(=) - pathogenic (recessive) g.48631130C>G g.48593697C>G - - COL7A1_000144 altered splicing > premature termination codon PubMed: Gardella 2002 - - Unknown - - - 0 - Peter van den Akker
+/? 3 c.313dup r.(?) p.(Arg105Profs*5) - pathogenic (recessive) g.48631084dup g.48593651dup - - COL7A1_000022 premature termination codon PubMed: Kern 2009 - - Unknown - - - 0 - Peter van den Akker
+/? 3 c.325_326insCG r.(?) p.(Glu109Alafs*39) - pathogenic (recessive) g.48631071_48631072insGC g.48593638_48593639insGC - - COL7A1_000157 premature termination codon {PMID:Escamez 2010 Br J Dermatol 163:155:20184583} - - Unknown - - - 0 - Peter van den Akker
+/? 3 c.325_326insCG r.(?) p.(Glu109Alafs*39) - pathogenic (recessive) g.48631071_48631072insGC g.48593638_48593639insGC - - COL7A1_000157 premature termination codon {PMID:Escamez 2010 Br J Dermatol 163:155:20184583} - - Unknown - - - 0 - Peter van den Akker
+/? 3 c.325_326insCG r.(?) p.(Glu109Alafs*39) - pathogenic (recessive) g.48631071_48631072insGC g.48593638_48593639insGC - - COL7A1_000157 premature termination codon {PMID:Hovnanian 1997 Am J Hum Genet 61:599:09326325} - - Unknown - - - 0 - Peter van den Akker
+/? 3 c.325_326insCG r.(?) p.(Glu109Alafs*39) - pathogenic (recessive) g.48631071_48631072insGC g.48593638_48593639insGC - - COL7A1_000157 premature termination codon {PMID:Hovnanian 1997 Am J Hum Genet 61:599:09326325} - - Unknown - - - 0 - Peter van den Akker
+/? 3 c.336C>G r.(?) p.(Tyr112*) - pathogenic (recessive) g.48631060G>C g.48593627G>C - - COL7A1_000150 premature termination codon {PMID:Escamez 2010 Br J Dermatol 163:155:20184583} - - Unknown - - - 0 - Peter van den Akker
+/? 3 c.344dup r.(?) p.(Asn116Glnfs*13) - pathogenic (recessive) g.48631057dup g.48593624dup - - COL7A1_000082 premature termination codon PubMed: Gardella 2002 - - Unknown - - - 0 - Peter van den Akker
+/? 3 c.344dup r.(?) p.(Asn116Glnfs*13) - pathogenic (recessive) g.48631057dup g.48593624dup - - COL7A1_000082 premature termination codon PubMed: van den Akker 2009 - - Unknown - - - 0 - Peter van den Akker
+/? 3 c.353delinsCCCCCTTGCAA r.(?) p.(Arg118Profs*14) - pathogenic (recessive) g.48631043delinsTTGCAAGGGGG g.48593610delinsTTGCAAGGGGG - - COL7A1_000177 premature termination codon PubMed: van den Akker 2009 - - Unknown - - - 0 - Peter van den Akker
+/? 3 c.409C>T r.(?) p.(Arg137*) - pathogenic (recessive) g.48630987G>A g.48593554G>A - - COL7A1_000203 premature termination codon PubMed: Sawamura 2005 - - Unknown - - - 0 - Peter van den Akker
+/. - c.425A>G r.(?) p.(Lys142Arg) - pathogenic g.48630971T>C g.48593538T>C COL7A1(NM_000094.3):c.425A>G (p.K142R) - COL7A1_000457 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
+/. - c.425A>G r.(?) p.(Lys142Arg) - pathogenic g.48630971T>C g.48593538T>C COL7A1(NM_000094.3):c.425A>G (p.K142R) - COL7A1_000457 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/? 3 c.425A>G r.spl p.(Lys142Arg) - pathogenic (recessive) g.48630971T>C g.48593538T>C - - COL7A1_000016 altered splicing > premature termination codon PubMed: Kern 2009 - - Unknown - - - 0 - Peter van den Akker
+/? 3 c.425A>G r.spl p.(Lys142Arg) - pathogenic (recessive) g.48630971T>C g.48593538T>C - - COL7A1_000016 altered splicing > premature termination codon PubMed: Kern 2009 - - Unknown - - - 0 - Peter van den Akker
+/? 3 c.425A>G r.spl p.(Lys142Arg) - pathogenic (recessive) g.48630971T>C g.48593538T>C - - COL7A1_000016 altered splicing > premature termination codon PubMed: Kern 2006 - - Unknown - - - 0 - Peter van den Akker
+/? 3 c.425A>G r.spl p.(Lys142Arg) - pathogenic (recessive) g.48630971T>C g.48593538T>C - - COL7A1_000016 altered splicing > premature termination codon PubMed: Kern 2006 - - Unknown - - - 0 - Peter van den Akker
+/? 3 c.425A>G r.spl p.(Lys142Arg) - pathogenic (recessive) g.48630971T>C g.48593538T>C - - COL7A1_000016 altered splicing > premature termination codon PubMed: Gardella 2002 - - Unknown - - - 0 - Peter van den Akker
+/? 3 c.425A>G r.spl p.(Lys142Arg) - pathogenic (recessive) g.48630971T>C g.48593538T>C - - COL7A1_000016 altered splicing > premature termination codon PubMed: Kern 2006 - - Unknown - - - 0 - Peter van den Akker
+/? 3 c.425A>G r.spl p.(Lys142Arg) - pathogenic (recessive) g.48630971T>C g.48593538T>C - - COL7A1_000016 altered splicing > premature termination codon PubMed: Gardella 2002 - - Unknown - - - 0 - Peter van den Akker
+/? 3 c.425A>G r.spl p.(Lys142Arg) - pathogenic (recessive) g.48630971T>C g.48593538T>C - - COL7A1_000016 altered splicing > premature termination codon PubMed: Gardella 2002 - - Unknown - - - 0 - Peter van den Akker
+/? 3 c.425A>G r.spl p.(Lys142Arg) - pathogenic (recessive) g.48630971T>C g.48593538T>C - - COL7A1_000016 altered splicing > premature termination codon PubMed: Gardella 2002 - - Unknown - - - 0 - Peter van den Akker
+/? 3 c.425A>G r.spl p.(Lys142Arg) - pathogenic (recessive) g.48630971T>C g.48593538T>C - - COL7A1_000016 altered splicing > premature termination codon PubMed: Kern 2009 - - Unknown - - - 0 - Peter van den Akker
+/? 3 c.425A>G r.spl p.(Lys142Arg) - pathogenic (recessive) g.48630971T>C g.48593538T>C - - COL7A1_000016 altered splicing > premature termination codon PubMed: van den Akker 2009 - - Unknown - - - 0 - Peter van den Akker
+/? 3 c.425A>G r.spl p.(Lys142Arg) - pathogenic (recessive) g.48630971T>C g.48593538T>C - - COL7A1_000016 altered splicing > premature termination codon PubMed: Kern 2009 - - Unknown - - - 0 - Peter van den Akker
+/? 3 c.425A>G r.spl p.(Lys142Arg) - pathogenic (recessive) g.48630971T>C g.48593538T>C - - COL7A1_000016 altered splicing > premature termination codon PubMed: Jerabkova 2010 - - Unknown - - - 0 - Peter van den Akker
+/? 3 c.425A>G r.spl p.(Lys142Arg) - pathogenic (recessive) g.48630971T>C g.48593538T>C - - COL7A1_000016 altered splicing > premature termination codon PubMed: Jerabkova 2010 - - Unknown - - - 0 - Peter van den Akker
+/? 3 c.425A>G r.spl p.(Lys142Arg) - pathogenic (recessive) g.48630971T>C g.48593538T>C - - COL7A1_000016 altered splicing > premature termination codon PubMed: Jerabkova 2010 - - Unknown - - - 0 - Peter van den Akker
+/? 3 c.425A>G r.spl p.(Lys142Arg) - pathogenic (recessive) g.48630971T>C g.48593538T>C - - COL7A1_000016 altered splicing > premature termination codon PubMed: Jerabkova 2010 - - Unknown - - - 0 - Peter van den Akker
+/? 3 c.425A>G r.spl p.(Lys142Arg) - pathogenic (recessive) g.48630971T>C g.48593538T>C - - COL7A1_000016 altered splicing > premature termination codon PubMed: Jerabkova 2010 - - Unknown - - - 0 - Peter van den Akker
+/? 3 c.425A>G r.spl p.(Lys142Arg) - pathogenic (recessive) g.48630971T>C g.48593538T>C - - COL7A1_000016 altered splicing > premature termination codon PubMed: Jerabkova 2010 - - Unknown - - - 0 - Peter van den Akker
+/? 3 c.425A>G r.spl p.(Lys142Arg) - pathogenic (recessive) g.48630971T>C g.48593538T>C - - COL7A1_000016 altered splicing > premature termination codon PubMed: Jerabkova 2010 - - Unknown - - - 0 - Peter van den Akker
+/? 3 c.425A>G r.spl p.(Lys142Arg) - pathogenic (recessive) g.48630971T>C g.48593538T>C - - COL7A1_000016 altered splicing > premature termination codon PubMed: Jerabkova 2010 - - Unknown - - - 0 - Peter van den Akker
+/? 3 c.425A>G r.spl p.(Lys142Arg) - pathogenic (recessive) g.48630971T>C g.48593538T>C - - COL7A1_000016 altered splicing > premature termination codon PubMed: Jerabkova 2010 - - Unknown - - - 0 - Peter van den Akker
+/? 3 c.425A>G r.spl p.(Lys142Arg) - pathogenic (recessive) g.48630971T>C g.48593538T>C - - COL7A1_000016 altered splicing > premature termination codon PubMed: Jerabkova 2010 - - Unknown - - - 0 - Peter van den Akker
+/? 3 c.425A>G r.spl p.(Lys142Arg) - pathogenic (recessive) g.48630971T>C g.48593538T>C - - COL7A1_000016 altered splicing > premature termination codon PubMed: Jerabkova 2010 - - Unknown - - - 0 - Peter van den Akker
+/? 3 c.425A>G r.spl p.(Lys142Arg) - pathogenic (recessive) g.48630971T>C g.48593538T>C - - COL7A1_000016 altered splicing > premature termination codon PubMed: Jerabkova 2010 - - Unknown - - - 0 - Peter van den Akker
+/? 3 c.425A>G r.spl p.(Lys142Arg) - pathogenic (recessive) g.48630971T>C g.48593538T>C - - COL7A1_000016 altered splicing > premature termination codon; unknown variant 2nd chromosome PubMed: Jerabkova 2010 - - Unknown - - - 0 - Peter van den Akker
+/? 3 c.425A>G r.spl p.(Lys142Arg) - pathogenic (recessive) g.48630971T>C g.48593538T>C - - COL7A1_000016 altered splicing > premature termination codon PubMed: Salas-Alanis 2000, PubMed: Mellerio 1998 - - Unknown - - - 0 - Peter van den Akker
+/? 3 c.425A>G r.spl p.(Lys142Arg) - pathogenic (recessive) g.48630971T>C g.48593538T>C - - COL7A1_000016 altered splicing > premature termination codon {PMID:Van den Akker 2011 J Med Genet 48:160:21113014} - - Unknown - - - 0 - Peter van den Akker
+/? 3 c.425A>G r.spl p.(Lys142Arg) - pathogenic (recessive) g.48630971T>C g.48593538T>C - - COL7A1_000016 altered splicing > premature termination codon PubMed: Kern 2006 - - Unknown - - - 0 - Peter van den Akker
+/? 3 c.425A>G r.spl p.(Lys142Arg) - pathogenic (recessive) g.48630971T>C g.48593538T>C - - COL7A1_000016 altered splicing > premature termination codon PubMed: Whittock 1999 - - Unknown - - - 0 - Peter van den Akker
+/? 3 c.425A>G r.spl p.(Lys142Arg) - pathogenic (recessive) g.48630971T>C g.48593538T>C - - COL7A1_000016 altered splicing > premature termination codon PubMed: Kern 2006 - - Unknown - - - 0 - Peter van den Akker
+/? 3 c.425A>G r.spl p.(Lys142Arg) - pathogenic (recessive) g.48630971T>C g.48593538T>C - - COL7A1_000016 altered splicing > premature termination codon PubMed: Kern 2006 - - Unknown - - - 0 - Peter van den Akker
+/? 3 c.425A>G r.spl p.(Lys142Arg) - pathogenic (recessive) g.48630971T>C g.48593538T>C - - COL7A1_000016 altered splicing > premature termination codon PubMed: Kern 2006 - - Unknown - - - 0 - Peter van den Akker
+/? 3 c.425A>G r.spl p.(Lys142Arg) - pathogenic (recessive) g.48630971T>C g.48593538T>C - - COL7A1_000016 altered splicing > premature termination codon PubMed: Kern 2006, PubMed: Kern 2009 - - Unknown - - - 0 - Peter van den Akker
+/? 3 c.425A>G r.spl p.(Lys142Arg) - pathogenic (recessive) g.48630971T>C g.48593538T>C - - COL7A1_000016 altered splicing > premature termination codon PubMed: Kern 2009 - - Unknown - - - 0 - Peter van den Akker
+/? 3 c.425A>G r.spl p.(Lys142Arg) - pathogenic (recessive) g.48630971T>C g.48593538T>C - - COL7A1_000016 altered splicing > premature termination codon PubMed: Kern 2009 - - Unknown - - - 0 - Peter van den Akker
+/? 3 c.425A>G r.spl p.(Lys142Arg) - pathogenic (recessive) g.48630971T>C g.48593538T>C - - COL7A1_000016 altered splicing > premature termination codon PubMed: Kern 2006, PubMed: Kern 2009 - - Unknown - - - 0 - Peter van den Akker
+/? 3 c.425A>G r.spl p.(Lys142Arg) - pathogenic (recessive) g.48630971T>C g.48593538T>C - - COL7A1_000016 altered splicing > premature termination codon PubMed: Kern 2009 - - Unknown - - - 0 - Peter van den Akker
+/? 3i c.426+1G>A r.spl p.(=) - pathogenic (recessive) g.48630969C>T g.48593536C>T - - COL7A1_000125 altered splicing > premature termination codon PubMed: Kern 2006 - - Unknown - - - 0 - Peter van den Akker
+/? 4 c.431_434dup r.(?) p.(Ile145Metfs*36) - pathogenic (recessive) g.48630876_48630879dup g.48593443_48593446dup - - COL7A1_000224 premature termination codon PubMed: Sawamura 2005, PubMed: Sato-Matsumura 2003 - - Unknown - - - 0 - Peter van den Akker
+/? 4 c.448G>A r.(?) p.(Gly150Arg) - pathogenic (recessive) g.48630861C>T g.48593428C>T - - COL7A1_000076 missense mutation PubMed: van den Akker 2009 - - Unknown - - - 0 - Peter van den Akker
+/? 4 c.448G>A r.(?) p.(Gly150Arg) - pathogenic (recessive) g.48630861C>T g.48593428C>T - - COL7A1_000076 missense mutation {PMID:Drera 2009 J Dermatol Sci 53:222:18951764} - - Unknown - - - 0 - Peter van den Akker
+/? 4 c.448G>A r.(?) p.(Gly150Arg) - pathogenic (recessive) g.48630861C>T g.48593428C>T - - COL7A1_000076 missense mutation PubMed: Kern 2009 - - Unknown - - - 0 - Peter van den Akker
+/. - c.497dup r.(?) p.(Val168GlyfsTer12) - pathogenic g.48630812dup g.48593379dup COL7A1(NM_000094.3):c.497dupA (p.V168Gfs*12) - COL7A1_000564 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/? 4 c.497dup r.(?) p.(Val168Glyfs*12) - pathogenic (recessive) g.48630812dup g.48593379dup - - COL7A1_000014 premature termination codon PubMed: Kern 2009 - - Unknown - - - 0 - Peter van den Akker
+/? 4 c.497dup r.(?) p.(Val168Glyfs*12) - pathogenic (recessive) g.48630812dup g.48593379dup - - COL7A1_000014 premature termination codon PubMed: Kern 2009 - - Unknown - - - 0 - Peter van den Akker
+/? 4 c.497dup r.(?) p.(Val168Glyfs*12) - pathogenic (recessive) g.48630812dup g.48593379dup - - COL7A1_000014 premature termination codon PubMed: Gardella 2002 - - Unknown - - - 0 - Peter van den Akker
+/? 4 c.497dup r.(?) p.(Val168Glyfs*12) - pathogenic (recessive) g.48630812dup g.48593379dup - - COL7A1_000014 premature termination codon PubMed: Gardella 2002 - - Unknown - - - 0 - Peter van den Akker
+/? 4 c.497dup r.(?) p.(Val168Glyfs*12) - pathogenic (recessive) g.48630812dup g.48593379dup - - COL7A1_000014 premature termination codon PubMed: Gardella 2002 - - Unknown - - - 0 - Peter van den Akker
+/? 4 c.497dup r.(?) p.(Val168Glyfs*12) - pathogenic (recessive) g.48630812dup g.48593379dup - - COL7A1_000014 premature termination codon PubMed: Gardella 2002 - - Unknown - - - 0 - Peter van den Akker
+/? 4 c.497dup r.(?) p.(Val168Glyfs*12) - pathogenic (recessive) g.48630812dup g.48593379dup - - COL7A1_000014 premature termination codon PubMed: Gardella 2002 - - Unknown - - - 0 - Peter van den Akker
+/? 4 c.497dup r.(?) p.(Val168Glyfs*12) - pathogenic (recessive) g.48630812dup g.48593379dup - - COL7A1_000014 premature termination codon PubMed: Gardella 2002 - - Unknown - - - 0 - Peter van den Akker
+/? 4 c.497dup r.(?) p.(Val168Glyfs*12) - pathogenic (recessive) g.48630812dup g.48593379dup - - COL7A1_000014 premature termination codon PubMed: Gardella 2002 - - Unknown - - - 0 - Peter van den Akker
+/? 4 c.497dup r.(?) p.(Val168Glyfs*12) - pathogenic (recessive) g.48630812dup g.48593379dup - - COL7A1_000014 premature termination codon PubMed: Gardella 2002 - - Unknown - - - 0 - Peter van den Akker
+/? 4 c.497dup r.(?) p.(Val168Glyfs*12) - pathogenic (recessive) g.48630812dup g.48593379dup - - COL7A1_000014 premature termination codon PubMed: Gardella 2002 - - Unknown - - - 0 - Peter van den Akker
+/? 4 c.497dup r.(?) p.(Val168Glyfs*12) - pathogenic (recessive) g.48630812dup g.48593379dup - - COL7A1_000014 premature termination codon PubMed: Gardella 2002 - - Unknown - - - 0 - Peter van den Akker
+/? 4 c.497dup r.(?) p.(Val168Glyfs*12) - pathogenic (recessive) g.48630812dup g.48593379dup - - COL7A1_000014 premature termination codon PubMed: Kern 2006, PubMed: Kern 2009 - - Unknown - - - 0 - Peter van den Akker
+/? 4 c.497dup r.(?) p.(Val168Glyfs*12) - pathogenic (recessive) g.48630812dup g.48593379dup - - COL7A1_000014 premature termination codon PubMed: Jerabkova 2010 - - Unknown - - - 0 - Peter van den Akker
+/? 4 c.497dup r.(?) p.(Val168Glyfs*12) - pathogenic (recessive) g.48630812dup g.48593379dup - - COL7A1_000014 premature termination codon PubMed: van den Akker 2009 - - Unknown - - - 0 - Peter van den Akker
+/? 4 c.497dup r.(?) p.(Val168Glyfs*12) - pathogenic (recessive) g.48630812dup g.48593379dup - - COL7A1_000014 premature termination codon PubMed: Kern 2009, PubMed: Schumann 2008 - - Unknown - - - 0 - Peter van den Akker
+/? 4 c.497dup r.(?) p.(Val168Glyfs*12) - pathogenic (recessive) g.48630812dup g.48593379dup - - COL7A1_000014 premature termination codon PubMed: Kern 2006, PubMed: Kern 2009 - - Unknown - - - 0 - Peter van den Akker
+/? 4 c.497dup r.(?) p.(Val168Glyfs*12) - pathogenic (recessive) g.48630812dup g.48593379dup c.497_498insA - COL7A1_000014 premature termination codon PubMed: Dang 2007 - - Unknown - - - 0 - Peter van den Akker
+/? 4 c.497dup r.(?) p.(Val168Glyfs*12) - pathogenic (recessive) g.48630812dup g.48593379dup - - COL7A1_000107 premature termination codon {PMID:Posteraro 2005 Biochem Biophys Res Commun 338:1391:16271705} - - Unknown - - - 0 - Peter van den Akker
+/? 4 c.497dup r.(?) p.(Val168Glyfs*12) - pathogenic (recessive) g.48630812dup g.48593379dup - - COL7A1_000107 premature termination codon PubMed: Christiano 1996 - - Unknown - - - 0 - Peter van den Akker
+/? 4 c.520G>A r.spl p.(Gly174Arg) - pathogenic (recessive) g.48630789C>T g.48593356C>T - - COL7A1_000013 altered splicing > premature termination codon PubMed: Kern 2009 - - Unknown - - - 0 - Peter van den Akker
+/? 4 c.520G>A r.spl p.(Gly174Arg) - pathogenic (recessive) g.48630789C>T g.48593356C>T - - COL7A1_000013 altered splicing > premature termination codon PubMed: Almaani 2011 - - Unknown - - - 0 - Peter van den Akker
-?/. - c.521-10G>A r.(=) p.(=) - likely benign g.48630706C>T g.48593273C>T COL7A1(NM_000094.3):c.521-10G>A - COL7A1_000455 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/? 4 c.522_528del r.(?) p.(Ile175Metfs*7) - pathogenic (recessive) g.48630690_48630696del g.48593257_48593263del - - COL7A1_000116 premature termination codon {PMID:Hovnanian 1997 Am J Hum Genet 61:599:09326325} - - Unknown - - - 0 - Peter van den Akker
+/. - c.553C>T r.(?) p.(Arg185Ter) - pathogenic g.48630664G>A g.48593231G>A - - COL7A1_000535 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/? 5 c.553C>T r.(?) p.(Arg185*) - pathogenic (recessive) g.48630664G>A g.48593231G>A - - COL7A1_000025 premature termination codon PubMed: Kern 2009 - - Unknown - - - 0 - Peter van den Akker
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