All variants in the COL6A1 gene

This database is one of the gene variant databases from the "Leiden Muscular Dystrophy pages" (LMDp).
Information The variants shown are described using the NM_001848.2 transcript reference sequence.

968 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     
-/. 1 c.-5C>G r.(?) p.(=) - benign g.47401760C>G g.45981846C>G - - COL6A1_000054 from website {DBsub-Emory} - - - Germline - - - 0 - Madhuri Hegde
-/. - c.-5C>G r.(?) p.(=) - benign g.47401760C>G g.45981846C>G COL6A1(NM_001848.2):c.-5C>G - COL6A1_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.-5C>G r.(?) p.(=) - benign g.47401760C>G g.45981846C>G COL6A1(NM_001848.2):c.-5C>G - COL6A1_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.-5C>G r.(?) p.(=) - benign g.47401760C>G g.45981846C>G COL6A1(NM_001848.2):c.-5C>G - COL6A1_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
?/. 5' UTR c.-1C>T r.(?) p.(=) - VUS g.47401764C>T g.45981850C>T - - COL6A1_000257 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
?/. 5' UTR c.-1C>T r.(?) p.(=) - VUS g.47401764C>T g.45981850C>T - - COL6A1_000257 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. _1_35_ c.(?_-1)_(*1_?)del r.0 p.0 - pathogenic g.(46400000_46480000)_(48085000_qter)del - - - COL6A1_000162 1.6 Mb deletion ADARB1_PRMT2 (incl. COL6A1, COL6A2) PubMed: Foley 2011 - - Germline ? - - 0 - Johan den Dunnen
+/. _1_35_ c.(?_-1)_(*1_?)del r.0 p.0 - pathogenic g.(46950000_47250000)_(48085000_qter)del - - - COL6A1_000161 1.09 Mb deletion PCBP3_PRMT2 (Incl. COL6A1, COL6A2) PubMed: Foley 2011 - - Germline ? - - 0 - Johan den Dunnen
?/. 3 c.? r.(?) p.? - VUS g.? - 139G>A (V47M) - COL6A1_000000 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
?/. 5i c.? r.(?) p.(?) - VUS g.? - c.717+4A - COL6A1_000000 - PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
?/. 36 c.? r.(?) p.? - VUS g.? - 7342G>T (V2448F) - COL6A1_000000 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
?/. 1 c.74C>A r.(?) p.(Thr25Asn) - VUS g.47401838C>A g.45981924C>A - - COL6A1_000258 - PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
?/. 1i c.98-3C>G r.spl p.? - VUS g.47402545C>G g.45982631C>G - - COL6A1_000259 - PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
?/. - c.98-3C>G r.spl? p.? - VUS g.47402545C>G - COL6A1(NM_001848.2):c.98-3C>G - COL6A1_000259 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/. - c.98-2A>G r.spl? p.? - pathogenic g.47402546A>G g.45982632A>G - - COL6A1_000229 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/. 1i_2 c.98-2_103del r.spl p.? - pathogenic g.47402546_47402553del g.45982632_45982639del 98-2_103delAGACTGC - COL6A1_000260 - PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
?/. 2 c.105C>G r.(?) p.(=) - VUS g.47402555C>G g.45982641C>G - - COL6A1_000055 from website {DBsub-Emory} - - - Germline - - - 0 - Madhuri Hegde
-?/. - c.105C>G r.(?) p.(Pro35=) - likely benign g.47402555C>G g.45982641C>G COL6A1(NM_001848.2):c.105C>G (p.P35=) - COL6A1_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.105C>G r.(?) p.(Pro35=) - likely benign g.47402555C>G - COL6A1(NM_001848.2):c.105C>G (p.P35=) - COL6A1_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. - c.128A>C r.(?) p.(Asp43Ala) - pathogenic (recessive) g.47402578A>C g.45982664A>C - - COL6A1_000256 - PubMed: Saha 2018, Journal: Saha 2018 - rs786205555 Germline yes - - 0 - Johan den Dunnen
?/. 2 c.138G>C r.(?) p.(Glu46Asp) - VUS g.47402588G>C g.45982674G>C - - COL6A1_000261 - PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
?/. 2 c.170C>A r.(?) p.(Ala57Asp) - VUS g.47402620C>A g.45982706C>A - - COL6A1_000262 - PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
?/. 2 c.170C>A r.(?) p.(Ala57Asp) - VUS g.47402620C>A g.45982706C>A - - COL6A1_000262 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
?/. 2 c.170C>A r.(?) p.(Ala57Asp) - VUS g.47402620C>A g.45982706C>A - - COL6A1_000262 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
?/. 2 c.170C>A r.(?) p.(Ala57Asp) - VUS g.47402620C>A g.45982706C>A - - COL6A1_000262 - PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
?/. 2 c.170C>A r.(?) p.(Ala57Asp) - VUS g.47402620C>A g.45982706C>A - - COL6A1_000262 - PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
?/. 2 c.170C>A r.(?) p.(Ala57Asp) - VUS g.47402620C>A g.45982706C>A - - COL6A1_000262 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
?/. 2 c.170C>A r.(?) p.(Ala57Asp) - VUS g.47402620C>A g.45982706C>A - - COL6A1_000262 - PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
?/. 2 c.170C>A r.(?) p.(Ala57Asp) - VUS g.47402620C>A g.45982706C>A - - COL6A1_000262 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
?/. 2 c.170C>A r.(?) p.(Ala57Asp) - VUS g.47402620C>A g.45982706C>A - - COL6A1_000262 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
?/. 2 c.170C>A r.(?) p.(Ala57Asp) - VUS g.47402620C>A g.45982706C>A - - COL6A1_000262 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
?/. 2 c.170C>A r.(?) p.(Ala57Asp) - VUS g.47402620C>A g.45982706C>A - - COL6A1_000262 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
?/. - c.170C>A r.(?) p.(Ala57Asp) - VUS g.47402620C>A - COL6A1(NM_001848.2):c.170C>A (p.A57D) - COL6A1_000262 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. 2 c.202C>T r.(?) p.(Arg68Cys) - VUS g.47402652C>T g.45982738C>T - - COL6A1_000155 - PubMed: Butterfield - - Germline ? - - 0 - Russell Butterfield
?/. 2 c.202C>T r.(?) p.(Arg68Cys) - VUS g.47402652C>T g.45982738C>T - - COL6A1_000155 - PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
?/. 2 c.202C>T r.(?) p.(Arg68Cys) - VUS g.47402652C>T g.45982738C>T - - COL6A1_000155 no second variant in COL6A1 PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
?/. 2 c.202C>T r.(?) p.(Arg68Cys) - VUS g.47402652C>T g.45982738C>T - - COL6A1_000155 - PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
?/. 2 c.202C>T r.(?) p.(Arg68Cys) - VUS g.47402652C>T g.45982738C>T - - COL6A1_000155 - PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
?/. 2 c.202C>T r.(?) p.(Arg68Cys) - VUS g.47402652C>T g.45982738C>T - - COL6A1_000155 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
?/. 2 c.225C>T r.spl p.? - VUS g.47402675C>T g.45982761C>T - - COL6A1_000424 - PubMed: Ganapathy 2019 - - Germline - - - 0 - Johan den Dunnen
?/. 2 c.226A>C r.(?) p.(=) - VUS g.47402676A>C g.45982762A>C - - COL6A1_000263 - PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
-/. 3 c.235C>T r.(?) p.(Arg79Cys) - benign g.47404190C>T g.45984276C>T - - COL6A1_000036 - - - - De novo - - - 0 - Tom Winder
?/. 3 c.247A>G r.(?) p.(Asn83Asp) - VUS g.47404202A>G g.45984288A>G - - COL6A1_000264 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
?/. 3 c.262G>A r.(?) p.(Ala88Thr) - VUS g.47404217G>A g.45984303G>A - - COL6A1_000425 - PubMed: Ganapathy 2019 - rs540429266 Germline - - - 0 - Johan den Dunnen
?/. 3 c.285C>G r.(?) p.(Asp95Glu) - VUS g.47404240C>G g.45984326C>G - - COL6A1_000265 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+?/. 3 c.297del r.(?) p.(Ile100SerfsTer48) - likely pathogenic g.47404252del g.45984338del - - COL6A1_000426 - PubMed: Ganapathy 2019 - - Germline - - - 0 - Johan den Dunnen
?/. 3 c.311C>T r.(?) p.(Thr104Met) - VUS g.47404266C>T g.45984352C>T - - COL6A1_000266 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
?/. 3 c.324C>T r.(?) p.(=) - VUS g.47404279C>T g.45984365C>T - - COL6A1_000267 - PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
?/. 3 c.324C>T r.(?) p.(=) - VUS g.47404279C>T g.45984365C>T - - COL6A1_000267 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
?/. 3 c.325G>A r.(?) p.(Gly109Ser) - VUS g.47404280G>A g.45984366G>A - - COL6A1_000268 - PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
?/. 3 c.325G>A r.(?) p.(Gly109Ser) - VUS g.47404280G>A g.45984366G>A - - COL6A1_000268 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
?/. - c.344G>C r.(?) p.(Ser115Thr) - VUS g.47404299G>C g.45984385G>C COL6A1(NM_001848.2):c.344G>C (p.S115T) - COL6A1_000202 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. 3 c.347G>A r.(?) p.(Ser116Asn) - benign g.47404302G>A g.45984388G>A - - COL6A1_000001 - - - rs11553519 Germline - - - 0 - Andreas Laner
+?/. 3 c.347G>A r.(?) p.(Ser116Asn) - likely pathogenic g.47404302G>A g.45984388G>A - - COL6A1_000001 no confirmatory data; protein domain N1 PubMed: Lampe 2005 - - Germline - 3/54 cases - 0 - Johan den Dunnen
-/. 3 c.347G>A r.347g>a p.(Ser116Asn) - benign g.47404302G>A g.45984388G>A G347A - COL6A1_000001 - PubMed: Giusti 2005 - - Germline - - - 0 - Anne Lampe
-/. 3 c.347G>A r.(?) p.(Ser116Asn) - benign g.47404302G>A g.45984388G>A - - COL6A1_000001 from website {DBsub-Emory} - - - Germline - - - 0 - Madhuri Hegde
-/. - c.347G>A r.(?) p.(Ser116Asn) - benign g.47404302G>A g.45984388G>A COL6A1(NM_001848.2):c.347G>A (p.S116N) - COL6A1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.347G>A r.(?) p.(Ser116Asn) - benign g.47404302G>A g.45984388G>A COL6A1(NM_001848.2):c.347G>A (p.S116N) - COL6A1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.347G>A r.(?) p.(Ser116Asn) - benign g.47404302G>A g.45984388G>A COL6A1(NM_001848.2):c.347G>A (p.S116N) - COL6A1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.347G>A r.(?) p.(Ser116Asn) - benign g.47404302G>A g.45984388G>A COL6A1(NM_001848.2):c.347G>A (p.S116N) - COL6A1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
?/. 3 c.349G>A r.(?) p.(Val117Met) - VUS g.47404304G>A g.45984390G>A 7 - COL6A1_000147 - PubMed: Butterfield - - De novo yes - - 0 - Russell Butterfield
?/. 3 c.349G>A r.(?) p.(Val117Met) - VUS g.47404304G>A g.45984390G>A - - COL6A1_000147 unaffected mother carries this allele PubMed: Butterfield - - De novo yes - - 0 - Russell Butterfield
?/. 3 c.350T>C r.(?) p.(Val117Ala) - VUS g.47404305T>C g.45984391T>C - - COL6A1_000056 from website {DBsub-Emory} - - - Germline - - - 0 - Madhuri Hegde
+/. 3 c.350T>C r.350u>c p.Val117Ala - pathogenic g.47404305T>C g.45984391T>C - - COL6A1_000056 0/200 control chromosomes; no skipping exon3 - - - Germline yes - - 0 - Alessandra Ferlini
?/. 3 c.350T>C r.(?) p.(Val117Ala) - VUS g.47404305T>C g.45984391T>C - - COL6A1_000056 - PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
?/. 3 c.350T>C r.(?) p.(Val117Ala) - VUS g.47404305T>C g.45984391T>C - - COL6A1_000056 - PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
?/. 3 c.350T>C r.(?) p.(Val117Ala) - VUS g.47404305T>C g.45984391T>C - - COL6A1_000056 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
?/. 3 c.350T>C r.(?) p.(Val117Ala) - VUS g.47404305T>C g.45984391T>C - - COL6A1_000056 - PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
?/. 3 c.350T>C r.(?) p.(Val117Ala) - VUS g.47404305T>C g.45984391T>C - - COL6A1_000056 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
?/. 3 c.350T>C r.(?) p.(Val117Ala) - VUS g.47404305T>C g.45984391T>C - - COL6A1_000056 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
?/. 3 c.350T>C r.(?) p.(Val117Ala) - VUS g.47404305T>C g.45984391T>C - - COL6A1_000056 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
?/. 3 c.350T>C r.(?) p.(Val117Ala) - VUS g.47404305T>C g.45984391T>C - - COL6A1_000056 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
?/. 3 c.357G>A r.(?) p.(=) - VUS g.47404312G>A g.45984398G>A - - COL6A1_000269 - PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. 3 c.362A>G r.(?) p.(Lys121Arg) - pathogenic g.47404317A>G g.45984403A>G - - COL6A1_000002 0/190 control chromosomes; protein domain N1 PubMed: Scacheri 2002, OMIM:var0005 - - Germline - - - 0 - Johan den Dunnen
+/. 3 c.362A>G r.(?) p.(Lys121Arg) - pathogenic g.47404317A>G g.45984403A>G - - COL6A1_000002 from website {DBsub-Emory} - - - Germline - - - 0 - Madhuri Hegde
+/. 3 c.362A>G r.(?) p.(Lys121Arg) - pathogenic g.47404317A>G g.45984403A>G - - COL6A1_000002 - - - - Germline yes - - 0 - Alessandra Ferlini
+/. 3 c.362A>G r.(?) p.(Lys121Arg) - pathogenic g.47404317A>G g.45984403A>G - - COL6A1_000002 - - - - Germline - - - 0 - Payam Soltanzadeh
+/. - c.362A>G r.(?) p.(Lys121Arg) - pathogenic g.47404317A>G g.45984403A>G COL6A1(NM_001848.2):c.362A>G (p.K121R) - COL6A1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
+/. 3 c.362A>G r.(?) p.(Lys121Arg) - pathogenic g.47404317A>G g.45984403A>G - - COL6A1_000002 - PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. 3 c.362A>G r.(?) p.(Lys121Arg) - pathogenic g.47404317A>G g.45984403A>G - - COL6A1_000002 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
?/. 3 c.376G>A r.(?) p.(Gly126Ser) - VUS g.47404331G>A g.45984417G>A - - COL6A1_000270 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
?/. 3 c.379A>G r.(?) p.(Thr127Ala) - VUS g.47404334A>G g.45984420A>G - - COL6A1_000271 - PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
-/. - c.381C>T r.(?) p.(Thr127=) - benign g.47404336C>T g.45984422C>T COL6A1(NM_001848.2):c.381C>T (p.T127=) - COL6A1_000383 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 3 c.409C>G r.(?) p.(Leu137Val) - VUS g.47404364C>G g.45984450C>G - - COL6A1_000272 - PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. 3 c.424G>A r.424g>A p.Val142Met - pathogenic g.47404379G>A g.45984465G>A - - COL6A1_000167 - - - - Germline yes - - 0 - Alessandra Ferlini
?/. 3 c.424G>C r.(?) p.(Val142Leu) - VUS g.47404379G>C g.45984465G>C - - COL6A1_000273 - PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. 3i c.428+1G>A r.363_428del p.Tyr122_Gly143del - pathogenic g.47404384G>A g.45984470G>A IVS3+1G>A - COL6A1_000003 0/100 control chromosomes; protein domain N1 PubMed: Vanegas 2002, OMIM:var0008 - - Germline - - HphI 0 - Johan den Dunnen
+/. 3i c.428+1G>A r.363_428del p.Tyr122_Gly143del - pathogenic g.47404384G>A g.45984470G>A - - COL6A1_000003 protein domain N1 PubMed: Lucioli 2005 - - Germline - - - 0 - Anne Lampe
+/. 3i c.428+1G>A r.363_428del p.Tyr122_Gly143del - pathogenic g.47404384G>A g.45984470G>A - - COL6A1_000003 protein domain N1 PubMed: Lucioli 2005 - - Germline - - - 0 - Anne Lampe
+/. 3i c.428+1G>A r.363_428del p.Tyr122_Gly143del - pathogenic g.47404384G>A g.45984470G>A - - COL6A1_000003 protein domain N1 PubMed: Lucioli 2005 - - Germline - - - 0 - Anne Lampe
+/. 3i c.428+1G>A r.spl p.? - pathogenic g.47404384G>A g.45984470G>A - - COL6A1_000003 - - - - Germline ? - - 0 - Alessandra Ferlini
+/. - c.428+1G>A r.spl? p.? - pathogenic g.47404384G>A - COL6A1(NM_001848.2):c.428+1G>A - COL6A1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+?/. - c.428+1G>T r.spl p.? - likely pathogenic (dominant) g.47404384G>T g.45984470G>T - - COL6A1_000408 - PubMed: Park 2017 - - Germline - 1/209 cases - 0 - Johan den Dunnen
+/. - c.428+2T>G r.spl? p.? - pathogenic g.47404385T>G g.45984471T>G - - COL6A1_000230 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-/. 3i c.428+14A>G r.(=) p.(=) - benign g.47404397A>G g.45984483A>G - - COL6A1_000057 - - - rs3746993 Germline - - - 0 - Andreas Laner
-/. 3i c.428+14A>G r.(?) p.(=) - benign g.47404397A>G g.45984483A>G - - COL6A1_000057 from website {DBsub-Emory} - - - Germline - - - 0 - Madhuri Hegde
-/. - c.428+14A>G r.(=) p.(=) - benign g.47404397A>G g.45984483A>G COL6A1(NM_001848.2):c.428+14A>G - COL6A1_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.428+14A>G r.(=) p.(=) - benign g.47404397A>G g.45984483A>G COL6A1(NM_001848.2):c.428+14A>G - COL6A1_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.428+14A>G r.(=) p.(=) - benign g.47404397A>G g.45984483A>G COL6A1(NM_001848.2):c.428+14A>G - COL6A1_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-/. 3i c.428+39C>G r.(?) p.(=) - benign g.47404422C>G g.45984508C>G - - COL6A1_000058 from website {DBsub-Emory} - - - Germline - - - 0 - Madhuri Hegde
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