Unique variants in gene COL7A1

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

493 entries on 5 pages. Showing entries 1 - 100.
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Effect     

Reported     

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     
-?/. 1 - 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 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 - - - - - Peter van den Akker
+/? 3 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 - - - - - Peter van den Akker
-?/. 2 - 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 - - - - - VKGL-NL_Groningen, VKGL-NL_VUmc
+/?, +/. 2 1 c.58C>T r.(?) p.(Arg20*), p.(Arg20Ter) - pathogenic (recessive), pathogenic g.48632535G>A g.48595102G>A - - COL7A1_000068, COL7A1_000536 premature termination codon, VKGL data sharing initiative Nederland {PMID:Pfendner 2003 Prenat Diagn 23:447:12813757} - - Unknown, CLASSIFICATION record - - - - - Peter van den Akker, VKGL-NL_Nijmegen
+/? 1 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 - - - - - Peter van den Akker
+/? 1 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 - - - - - Peter van den Akker
-/. 1 - 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
+/? 1 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 - - - - - Peter van den Akker
+/? 1 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 - - - - - Peter van den Akker
+/? 1 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 - - - - - Peter van den Akker
?/. 1 - 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 - - - - - VKGL-NL_Rotterdam
+/? 1 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 - - - - - Peter van den Akker
+/? 1 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 - - - - - Peter van den Akker
+/? 1 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 - - - - - Peter van den Akker
+/? 1 3 c.313dup r.(?) p.(Arg105Profs*5) - pathogenic (recessive) g.48631084dup g.48593651dup - - COL7A1_000022 premature termination codon PubMed: Kern 2009 - - Unknown - - - - - Peter van den Akker
+/? 4 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}, 1 more item - - Unknown - - - - - Peter van den Akker
+/? 1 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 - - - - - Peter van den Akker
+/? 2 3 c.344dup r.(?) p.(Asn116Glnfs*13) - pathogenic (recessive) g.48631057dup g.48593624dup - - COL7A1_000082 premature termination codon PubMed: Gardella 2002, PubMed: van den Akker 2009 - - Unknown - - - - - Peter van den Akker
+/? 1 3 c.353delinsCCCCCTTGCAA r.(?) p.(Arg118Profs*14) - pathogenic (recessive) g.48631043delinsTTGCAAGGGGG g.48593610delinsTTGCAAGGGGG - - COL7A1_000177 premature termination codon PubMed: van den Akker 2009 - - Unknown - - - - - Peter van den Akker
+/? 1 3 c.409C>T r.(?) p.(Arg137*) - pathogenic (recessive) g.48630987G>A g.48593554G>A - - COL7A1_000203 premature termination codon PubMed: Sawamura 2005 - - Unknown - - - - - Peter van den Akker
+/., +/? 39 3 c.425A>G r.(?), r.spl p.(Lys142Arg) - pathogenic, pathogenic (recessive) g.48630971T>C g.48593538T>C COL7A1(NM_000094.3):c.425A>G (p.K142R) - COL7A1_000457, COL7A1_000016 VKGL data sharing initiative Nederland, altered splicing > premature termination codon, 1 more item PubMed: Kern 2009, PubMed: Kern 2006, PubMed: Gardella 2002, PubMed: van den Akker 2009, 5 more items - - CLASSIFICATION record, Unknown - - - - - VKGL-NL_Groningen, Peter van den Akker, VKGL-NL_Nijmegen
+/? 1 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 - - - - - Peter van den Akker
+/? 1 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 - - - - - Peter van den Akker
+/? 3 4 c.448G>A r.(?) p.(Gly150Arg) - pathogenic (recessive) g.48630861C>T g.48593428C>T - - COL7A1_000076 missense mutation PubMed: van den Akker 2009, {PMID:Drera 2009 J Dermatol Sci 53:222:18951764}, PubMed: Kern 2009 - - Unknown - - - - - Peter van den Akker
+/?, +/. 21 4 c.497dup r.(?) p.(Val168Glyfs*12), p.(Val168GlyfsTer12) - pathogenic (recessive), pathogenic g.48630812dup g.48593379dup c.497_498insA, COL7A1(NM_000094.3):c.497dupA (p.V168Gfs*12) - COL7A1_000014, COL7A1_000107, COL7A1_000564 premature termination codon, VKGL data sharing initiative Nederland PubMed: Kern 2009, PubMed: Gardella 2002, PubMed: Kern 2006, PubMed: Kern 2009, PubMed: Jerabkova 2010, 5 more items - - Unknown, CLASSIFICATION record - - - - - Peter van den Akker, VKGL-NL_Groningen
+/? 2 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, PubMed: Almaani 2011 - - Unknown - - - - - Peter van den Akker
-?/. 1 - 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 - - - - - VKGL-NL_Rotterdam
+/? 1 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 - - - - - Peter van den Akker
+/?, +/. 8 5 c.553C>T r.(?) p.(Arg185*), p.(Arg185Ter) - pathogenic (recessive), pathogenic g.48630664G>A g.48593231G>A - - COL7A1_000025, COL7A1_000535 premature termination codon, VKGL data sharing initiative Nederland PubMed: Kern 2009, PubMed: van den Akker 2009, {PMID:Escamez 2010 Br J Dermatol 163:155:20184583}, 2 more items - - Unknown, CLASSIFICATION record - - - - - Peter van den Akker, VKGL-NL_Nijmegen
+/? 1 5 c.565C>T r.(?) p.(Gln189*) - pathogenic (recessive) g.48630652G>A g.48593219G>A - - COL7A1_000316 premature termination codon PubMed: Whittock 1999 - - Unknown - - - - - Peter van den Akker
-?/. 1 - c.592G>A r.(?) p.(Val198Ile) - likely benign g.48630625C>T g.48593192C>T COL7A1(NM_000094.3):c.592G>A (p.V198I) - COL7A1_000454 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/? 1 5 c.638_639insA r.(?) p.(Arg214Glufs*17) - pathogenic (recessive) g.48630578_48630579insT g.48593145_48593146insT - - COL7A1_000086 premature termination codon; unknown variant 2nd chromosome PubMed: Gardella 2002 - - Unknown - - - - - Peter van den Akker
+/? 4 5 c.676C>T r.(?) p.(Arg226*) - pathogenic (recessive) g.48630541G>A g.48593108G>A - - COL7A1_000085 premature termination codon PubMed: Gardella 2002, PubMed: Chiaverini 2010, PubMed: Christiano 1996 - - Unknown - - - - - Peter van den Akker
+/? 13 5i c.682+1G>A r.spl p.(=) - pathogenic (recessive) g.48630534C>T g.48593101C>T - - COL7A1_000114 altered splicing > premature termination codon {PMID:Drera 2009 J Dermatol Sci 53:222:18951764}, PubMed: Kern 2009, PubMed: Gardella 2002, 4 more items - - Unknown - - - - - Peter van den Akker
+/? 1 5i c.682+1G>C r.(?) p.(=) - pathogenic (recessive) g.48630534C>G g.48593101C>G - - COL7A1_000346 altered splicing PubMed: Dang 2007 - - Unknown - - - - - Peter van den Akker
-/. 1 - c.683-8A>G r.(=) p.(=) - benign g.48630379T>C g.48592946T>C - - COL7A1_000533 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.684G>A r.(?) p.(Pro228=) - VUS g.48630370C>T g.48592937C>T COL7A1(NM_000094.3):c.684G>A (p.(=)) - COL7A1_000453 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/? 4 6 c.706C>T r.(?) p.(Arg236*) - pathogenic (recessive) g.48630348G>A g.48592915G>A - - COL7A1_000057 premature termination codon; unknown variant 2nd chromosome, premature termination codon {PMID:Hovnanian 1994 Am J Hum Genet 55:289:08037207}, PubMed: Gardella 2002, PubMed: Sawamura 2005, 1 more item - - Unknown - - - - - Peter van den Akker
+/? 1 6 c.751C>T r.(?) p.(Gln251*) - pathogenic (recessive) g.48630303G>A g.48592870G>A - - COL7A1_000339 premature termination codon PubMed: Christiano 1996 - - Unknown - - - - - Peter van den Akker
-?/. 3 - c.802C>T r.(?) p.(Pro268Ser) - likely benign g.48630252G>A g.48592819G>A COL7A1(NM_000094.3):c.802C>T (p.P268S) - COL7A1_000452 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_Rotterdam, VKGL-NL_VUmc
+/? 1 6 c.806dup r.(?) p.(Thr270Aspfs*10) - pathogenic (recessive) g.48630248dup g.48592815dup - - COL7A1_000139 premature termination codon PubMed: Gardella 2002 - - Unknown - - - - - Peter van den Akker
+/? 1 6 c.841C>T r.(?) p.(Gln281*) - pathogenic (recessive) g.48630213G>A g.48592780G>A - - COL7A1_000115 premature termination codon {PMID:Hovnanian 1997 Am J Hum Genet 61:599:09326325} - - Unknown - - - - - Peter van den Akker
+/? 1 6 c.846G>A r.spl p.(=) - pathogenic (recessive) g.48630208C>T g.48592775C>T - - COL7A1_000007 altered splicing > premature termination codon PubMed: Kern 2009 - - Unknown - - - - - Peter van den Akker
+/? 1 6i c.846+1G>A r.spl p.(=) - pathogenic (recessive) g.48630207C>T g.48592774C>T - - COL7A1_000127 altered splicing > premature termination codon PubMed: Kern 2009 - - Unknown - - - - - Peter van den Akker
+/? 1 6i c.847-6G>A r.spl p.(=) - pathogenic (recessive) g.48630138C>T g.48592705C>T - - COL7A1_000141 altered splicing > premature termination codon PubMed: Gardella 2002 - - Unknown - - - - - Peter van den Akker
+/? 1 6i c.847-4_847del r.spl p.? - pathogenic (recessive) g.48630134_48630138del g.48592701_48592705del - - COL7A1_000235 altered splicing > premature termination codon {PMID:Hovnanian 1997 Am J Hum Genet 61:599:09326325} - - Unknown - - - - - Peter van den Akker
+/? 1 6i c.847-1G>T r.spl p.(=) - pathogenic (recessive) g.48630133C>A g.48592700C>A - - COL7A1_000191 altered splicing > premature termination codon PubMed: van den Akker 2009 - - Unknown - - - - - Peter van den Akker
?/. 1 - c.893G>A r.(?) p.(Arg298Gln) - VUS g.48630086C>T g.48592653C>T COL7A1(NM_000094.3):c.893G>A (p.R298Q) - COL7A1_000451 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/? 1 7 c.925_944dup r.(?) p.(Ile315Metfs*12) - pathogenic (recessive) g.48630036_48630055dup g.48592603_48592622dup - - COL7A1_000205 premature termination codon PubMed: van den Akker 2009 - - Unknown - - - - - Peter van den Akker
+/? 3 7 c.933C>A r.(?) p.(Tyr311*) - pathogenic (recessive) g.48630046G>T g.48592613G>T - - COL7A1_000020 premature termination codon PubMed: Christiano 1995 - - Unknown - - - - - Peter van den Akker
?/. 1 - c.976+8A>G r.(=) p.(=) - VUS g.48629995T>C g.48592562T>C COL7A1(NM_000094.3):c.976+8A>G - COL7A1_000572 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/? 1 6i c.977-3C>A r.spl p.(=) - pathogenic (recessive) g.48629903G>T g.48592470G>T - - COL7A1_000336 altered splicing > premature termination codon PubMed: Kern 2009 - - Unknown - - - - - Peter van den Akker
+/. 1 - c.1093+2T>G r.spl? p.? - pathogenic g.48629782A>C g.48592349A>C COL7A1(NM_000094.3):c.1093+2T>G - COL7A1_000450 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.1098G>A r.(?) p.(Gly366=) - likely benign g.48629677C>T g.48592244C>T COL7A1(NM_000094.3):c.1098G>A (p.G366=) - COL7A1_000449 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/? 1 9 c.1172_1173del r.(?) p.(Tyr391*) - pathogenic (recessive) g.48629603_48629604del g.48592170_48592171del 1172_1173delAT - COL7A1_000005 unknown variant 2nd chromosome - - - Unknown - - DdeI+ - - -
-?/. 1 - c.1191C>G r.(?) p.(Thr397=) - likely benign g.48629584G>C g.48592151G>C COL7A1(NM_000094.3):c.1191C>G (p.T397=) - COL7A1_000563 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/? 2 10 c.1264dup r.(?) p.(Arg422Profs*19) - pathogenic (recessive) g.48629424dup g.48591991dup - - COL7A1_000206 premature termination codon PubMed: van den Akker 2009 - - Unknown - - - - - Peter van den Akker
+/? 1 10 c.1332C>A r.(?) p.(Tyr444*) - pathogenic (recessive) g.48629356G>T g.48591923G>T - - COL7A1_000276 premature termination codon PubMed: Chiaverini 2010 - - Unknown - - - - - Peter van den Akker
?/. 1 - c.1348C>T r.(?) p.(Arg450Cys) - VUS g.48629340G>A g.48591907G>A COL7A1(NM_000094.3):c.1348C>T (p.R450C) - COL7A1_000448 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/? 1 11 c.1363G>T r.(?) p.(Glu455*) - pathogenic (recessive) g.48629250C>A g.48591817C>A - - COL7A1_000256 premature termination codon {PMID:Van den Akker 2011 J Med Genet 48:160:21113014} - - Unknown - - - - - Peter van den Akker
-/. 1 - c.1383A>G r.(?) p.(Val461=) - benign g.48629230T>C g.48591797T>C - - COL7A1_000531 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.1418G>A r.(?) p.(Gly473Glu) - VUS g.48629195C>T g.48591762C>T COL7A1(NM_000094.3):c.1418G>A (p.G473E) - COL7A1_000562 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/? 1 11 c.1474_1484del r.(?) p.(Glu492Profs*53) - pathogenic (recessive) g.48629135_48629145del g.48591702_48591712del - - COL7A1_000126 premature termination codon PubMed: Kern 2006 - - Unknown - - - - - Peter van den Akker
+/? 1 11 c.1478_1485del r.(?) p.(Val493Alafs*53) - pathogenic (recessive) g.48629128_48629135del g.48591695_48591702del - - COL7A1_000225 premature termination codon PubMed: Sawamura 2005 - - Unknown - - - - - Peter van den Akker
?/. 1 - c.1495G>A r.(?) p.(Val499Met) - VUS g.48629118C>T g.48591685C>T COL7A1(NM_000094.3):c.1495G>A (p.V499M) - COL7A1_000571 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/? 1 11i c.1507+1G>A r.spl p.(=) - pathogenic (recessive) g.48629105C>T g.48591672C>T - - COL7A1_000315 altered splicing > alternative protein {PMID:Ouragini 2010 J Dermatol Sci 57:132:20060269} - - Unknown - - - - - Peter van den Akker
+/. 1 - c.1507+1G>C r.spl? p.? - pathogenic g.48629105C>G g.48591672C>G - - COL7A1_000530 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.1568G>A r.(?) p.(Arg523Gln) - VUS g.48628965C>T g.48591532C>T COL7A1(NM_000094.3):c.1568G>A (p.(Arg523Gln)) - COL7A1_000447 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/., +/? 8 12 c.1573C>T r.(?) p.(Arg525Ter), p.(Arg525*) - pathogenic, pathogenic (recessive) g.48628960G>A g.48591527G>A COL7A1(NM_000094.3):c.1573C>T (p.R525*) - COL7A1_000446, COL7A1_000019 VKGL data sharing initiative Nederland, premature termination codon PubMed: Kern 2009, PubMed: Whittock 1999, {PMID:Escamez 2010 Br J Dermatol 163:155:20184583}, 3 more items - - CLASSIFICATION record, Unknown - - - - - VKGL-NL_Groningen, Peter van den Akker
?/., -?/. 2 - c.1613G>A r.(?) p.(Arg538His) - VUS, likely benign g.48628920C>T g.48591487C>T COL7A1(NM_000094.3):c.1613G>A (p.R538H) - COL7A1_000561 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC, VKGL-NL_VUmc
+/. 1 - c.1636+1G>T r.spl? p.? - pathogenic g.48628896C>A g.48591463C>A COL7A1(NM_000094.3):c.1636+1G>T - COL7A1_000445 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/., +/? 13 13 c.1732C>T r.(?) p.(Arg578Ter), p.(Arg578*) - pathogenic, pathogenic (recessive) g.48628154G>A g.48590721G>A COL7A1(NM_000094.3):c.1732C>T (p.R578*), p.Arg578Ter - COL7A1_000444, COL7A1_000040 VKGL data sharing initiative Nederland, premature termination codon PubMed: Whittock 1999, {PMID:Dunnill 1994 Hum Mol Genet 3:1693:07833933}, PubMed: Gardella 2002, 5 more items - - CLASSIFICATION record, Unknown - - - - - VKGL-NL_Groningen, Peter van den Akker
-/. 1 - c.1784C>T r.(?) p.(Pro595Leu) - benign g.48628014G>A g.48590581G>A - - COL7A1_000529 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/? 2 14 c.1826C>G r.(?) p.(Ser609*) - pathogenic (recessive) g.48627972G>C g.48590539G>C - - COL7A1_000060 premature termination codon {PMID:Varki 2007 J Med Genet 44:181:16971478}, PubMed: Jerabkova 2010 - - Unknown - - - - - Peter van den Akker
-?/. 1 - c.1836G>T r.(?) p.(Thr612=) - likely benign g.48627962C>A g.48590529C>A COL7A1(NM_000094.3):c.1836G>T (p.T612=) - COL7A1_000443 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/? 1 14 c.1837C>T r.(?) p.(Arg613*) - pathogenic (recessive) g.48627961G>A g.48590528G>A - - COL7A1_000071 premature termination codon {PMID:Varki 2007 J Med Genet 44:181:16971478} - - Unknown - - - - - Peter van den Akker
+/? 1 14 c.1875_1876del r.(?) p.(Ser625Argfs*5) - pathogenic (recessive) g.48627923_48627924del g.48590490_48590491del - - COL7A1_000278 premature termination codon PubMed: Chiaverini 2010 - - Unknown - - - - - Peter van den Akker
-?/. 1 - c.1882C>A r.(?) p.(Arg628=) - likely benign g.48627916G>T g.48590483G>T COL7A1(NM_000094.3):c.1882C>A (p.R628=) - COL7A1_000442 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 3 - c.1907G>T r.(?) p.(Gly636Val) - VUS g.48627789C>A g.48590356C>A COL7A1(NM_000094.3):c.1907G>T (p.G636V) - COL7A1_000441 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_VUmc, VKGL-NL_Groningen
+/? 1 15 c.1921C>T r.(?) p.(Gln641*) - pathogenic (recessive) g.48627775G>A g.48590342G>A - - COL7A1_000204 premature termination codon PubMed: Sawamura 2005 - - Unknown - - - - - Peter van den Akker
+/? 1 15 c.1934del r.(?) p.(Pro645Glnfs*45) - pathogenic (recessive) g.48627766del g.48590333del - - COL7A1_000342 premature termination codon PubMed: Kern 2006, PubMed: Kern 2009 - - Unknown - - - - - Peter van den Akker
+/. 1 - c.1984C>T r.(?) p.(Gln662Ter) - pathogenic g.48627712G>A g.48590279G>A COL7A1(NM_000094.3):c.1984C>T (p.Q662*) - COL7A1_000440 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.1992T>A r.(?) p.(Ala664=) - likely benign g.48627704A>T g.48590271A>T COL7A1(NM_000094.3):c.1992T>A (p.A664=) - COL7A1_000539 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/?, +/. 5 15 c.2005C>T r.(?) p.(Arg669*), p.(Arg669Ter) - pathogenic (recessive), pathogenic g.48627691G>A g.48590258G>A - - COL7A1_000015, COL7A1_000528 premature termination codon, VKGL data sharing initiative Nederland PubMed: Kern 2009, PubMed: van den Akker 2009, {PMID:Mellerio 1998 Br J Dermatol 139:730:09892921} - - Unknown, CLASSIFICATION record - - - - - Peter van den Akker, VKGL-NL_Nijmegen
?/. 1 - c.2024C>G r.(?) p.(Pro675Arg) - VUS g.48627672G>C g.48590239G>C COL7A1(NM_000094.3):c.2024C>G (p.P675R) - COL7A1_000439 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/?, +/. 3 15 c.2044C>T r.(?) p.(Arg682*), p.(Arg682Ter) - pathogenic (recessive), pathogenic g.48627652G>A g.48590219G>A COL7A1(NM_000094.3):c.2044C>T (p.R682*) - COL7A1_000117, COL7A1_000527 premature termination codon, VKGL data sharing initiative Nederland PubMed: Whittock 1999 - - Unknown, CLASSIFICATION record - - - - - Peter van den Akker, VKGL-NL_Groningen, VKGL-NL_Nijmegen
-?/. 1 - c.2045G>A r.(?) p.(Arg682Gln) - likely benign g.48627651C>T g.48590218C>T COL7A1(NM_000094.3):c.2045G>A (p.R682Q) - COL7A1_000570 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/? 1 15i c.2051-1G>C r.spl p.(=) - pathogenic (recessive) g.48627152C>G g.48589719C>G - - COL7A1_000262 altered splicing > premature termination codon {PMID:Van den Akker 2011 J Med Genet 48:160:21113014} - - Unknown - - - - - Peter van den Akker
?/. 1 - c.2102C>T r.(?) p.(Ser701Phe) - VUS g.48627100G>A g.48589667G>A COL7A1(NM_000094.3):c.2102C>T (p.S701F) - COL7A1_000438 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 1 - c.2128C>T r.(?) p.(Pro710Ser) - VUS g.48627074G>A g.48589641G>A COL7A1(NM_000094.3):c.2128C>T (p.P710S) - COL7A1_000437 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.2136C>T r.(?) p.(Ala712=) - likely benign g.48627066G>A g.48589633G>A COL7A1(NM_000094.3):c.2136C>T (p.A712=) - COL7A1_000436 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. 1 - c.2157G>A r.(?) p.(Trp719Ter) - pathogenic g.48627045C>T g.48589612C>T - - COL7A1_000526 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.2195C>T r.(?) p.(Ser732Phe) - VUS g.48626879G>A g.48589446G>A COL7A1(NM_000094.3):c.2195C>T (p.S732F) - COL7A1_000560 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.2202G>A r.(?) p.(Glu734=) - likely benign g.48626872C>T g.48589439C>T COL7A1(NM_000094.3):c.2202G>A (p.E734=) - COL7A1_000435 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/? 1 17 c.2223_2226dup r.(?) p.(Leu743Trpfs*7) - pathogenic (recessive) g.48626852_48626855dup g.48589419_48589422dup - - COL7A1_000267 premature termination codon PubMed: Abu Sa'd J 2006 - - Unknown - - - - - Peter van den Akker
-/. 1 - c.2242G>A r.(?) p.(Glu748Lys) - benign g.48626832C>T g.48589399C>T COL7A1(NM_000094.3):c.2242G>A (p.E748K) - COL7A1_000559 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/? 1 17 c.2278G>A r.(?) p.(Val760Met) - pathogenic (dominant) g.48626796C>T g.48589363C>T - - COL7A1_000032 missense mutation; normal 2nd chromosome {PMID:Varki 2007 J Med Genet 44:181:16971478} - - Unknown - - - - - Peter van den Akker
+/? 2 17 c.2305_2314delinsTT r.(?) p.(Val769Phefs*3) - pathogenic (recessive) g.48626760_48626769delinsAA g.48589327_48589336delinsAA - - COL7A1_000180 premature termination codon PubMed: Kern 2009 - - Unknown - - - - - Peter van den Akker
+/? 1 17i c.2314+5G>A r.spl p.(=) - pathogenic (recessive) g.48626755C>T g.48589322C>T - - COL7A1_000133 altered splicing > premature termination codon PubMed: Kern 2006, PubMed: Kern 2009 - - Unknown - - - - - Peter van den Akker
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