All variants in the KRT6A gene

Information The variants shown are described using the NM_005554.3 transcript reference sequence.

144 entries on 2 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.262G>A r.(?) p.(Gly88Arg) - VUS g.52886711C>T - KRT6A(NM_005554.4):c.262G>A (p.G88R) - KRT6A_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.332G>A r.(?) p.(Gly111Asp) - benign g.52886641C>T g.52492857C>T KRT6A(NM_005554.4):c.332G>A (p.G111D) - KRT6A_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.460C>G r.(?) p.(Pro154Ala) - benign g.52886513G>C g.52492729G>C KRT6A(NM_005554.4):c.460C>G (p.P154A) - KRT6A_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.483T>C r.(?) p.(Ala161=) - benign g.52886490A>G g.52492706A>G KRT6A(NM_005554.4):c.483T>C (p.A161=) - KRT6A_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
+/. - c.487G>A r.(?) p.(Glu163Lys) - pathogenic g.52886486C>T g.52492702C>T - - chr12_007266 - PubMed: Wilson 2014 - - Germline - - - 0 - Johan den Dunnen
+/. - c.487G>A r.(?) p.(Glu163Lys) - pathogenic g.52886486C>T g.52492702C>T - - chr12_007266 - PubMed: Wilson 2011 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
+/. - c.491G>C r.(?) p.(Arg164Pro) - pathogenic g.52886482C>G g.52492698C>G - - chr12_007292 - PubMed: Liao 2007 - - Germline - - - 0 - Johan den Dunnen
-/. - c.495A>G r.(?) p.(Glu165=) - benign g.52886478T>C g.52492694T>C KRT6A(NM_005554.4):c.495A>G (p.E165=) - KRT6A_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
+/. - c.497A>C r.(?) p.(Gln166Pro) - pathogenic g.52886476T>G g.52492692T>G Gln166Pro - chr12_007295 - PubMed: Lv 2009 - - Germline - - - 0 - Johan den Dunnen
+/. - c.500T>A r.(?) p.(Ile167Asn) - pathogenic g.52886473A>T g.52492689A>T - - chr12_007257 - PubMed: Smith 2005 - - Germline - - Sau3A- 0 - Johan den Dunnen
+/. - c.500T>G r.(?) p.(Ile167Ser) - pathogenic g.52886473A>C g.52492689A>C - - chr12_007281 - PubMed: Wilson 2011 - - Germline - - - 0 - Johan den Dunnen
+/. - c.508C>T r.(?) p.(Leu170Phe) - pathogenic g.52886465G>A g.52492681G>A - - chr12_007258 - PubMed: Smith 2005 - - Germline - - - 0 - Johan den Dunnen
+/. - c.508C>T r.(?) p.(Leu170Phe) - pathogenic g.52886465G>A g.52492681G>A - - chr12_007258 - PubMed: Wilson 2014 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
+/. - c.511A>G r.(?) p.(Asn171Asp) - pathogenic (dominant) g.52886462T>C - - - KRT6A_000018 - PubMed: Bai 2008 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
+/. - c.511A>G r.(?) p.(Asn171Asp) - pathogenic g.52886462T>C g.52492678T>C - - KRT6A_000018 - PubMed: Liao 2007 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
+/. - c.511A>T r.(?) p.(Asn171Tyr) - pathogenic g.52886462T>A g.52492678T>A - - chr12_007293 - PubMed: Liao 2007 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
+/. - c.511A>T r.(?) p.(Asn171Tyr) - pathogenic g.52886462T>A g.52492678T>A - - chr12_007293 - PubMed: Liao 2007 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
+/. - c.512A>C r.(?) p.(Asn171Thr) - pathogenic g.52886461T>G g.52492677T>G - - chr12_007282 - PubMed: Wilson 2011 - - Germline - - - 0 - Johan den Dunnen
+/. - c.512A>G r.(?) p.(Asn171Ser) - pathogenic g.52886461T>C g.52492677T>C - - chr12_007259 - PubMed: Smith 2005 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
+/. - c.512A>G r.(?) p.(Asn171Ser) - pathogenic g.52886461T>C g.52492677T>C - - chr12_007259 - PubMed: Wilson 2011 - - Germline - - - 0 - Johan den Dunnen
+/. - c.512A>G r.(?) p.(Asn171Ser) - pathogenic g.52886461T>C g.52492677T>C - - chr12_007259 - PubMed: Wilson 2011 - - Germline - - - 0 - Johan den Dunnen
+/. - c.512A>G r.(?) p.(Asn171Ser) - pathogenic g.52886461T>C g.52492677T>C - - chr12_007259 - PubMed: Wilson 2011 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
+/. - c.512A>G r.(?) p.(Asn171Ser) - pathogenic g.52886461T>C g.52492677T>C - - chr12_007259 - PubMed: Liao 2007 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
+/. - c.512A>G r.(?) p.(Asn171Ser) - pathogenic g.52886461T>C g.52492677T>C - - chr12_007259 - PubMed: Liao 2007 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
+/. - c.512A>G r.(?) p.(Asn171Ser) - pathogenic g.52886461T>C g.52492677T>C - - chr12_007259 - PubMed: Liao 2007 - - Germline - - - 0 - Johan den Dunnen
+/. - c.513C>A r.(?) p.(Asn171Lys) - pathogenic g.52886460G>T g.52492676G>T 513C>A - chr12_007265 - PubMed: Smith 2005 - - Germline - - - 0 - Johan den Dunnen
+/. - c.513C>A r.(?) p.(Asn171Lys) - pathogenic g.52886460G>T g.52492676G>T - - chr12_007265 - PubMed: Wilson 2011 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
+/. - c.513C>A r.513c>a p.Asn171Lys - pathogenic (dominant) g.52886460G>T - - - KRT6A_000012 - PubMed: Smith 1999 - - Germline yes - - 0 - Johan den Dunnen
+/. - c.513C>A r.(?) p.(Asn171Lys) - pathogenic g.52886460G>T g.52492676G>T Asn171Lys - KRT6A_000012 - PubMed: Lv 2009 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
+/. - c.514_516del r.(?) p.(Asn172del) - pathogenic g.52886461_52886463del g.52492677_52492679del c.514_516delAAC - KRT6A_000010 - PubMed: Liao 2007 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
+/. - c.514_516del r.(?) p.(Asn172del) - pathogenic g.52886461_52886463del g.52492677_52492679del c.514_516delAAC - KRT6A_000010 - PubMed: Liao 2007 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
+/. - c.514_516del r.(?) p.(Asn172del) - pathogenic g.52886461_52886463del g.52492677_52492679del c.514_516delAAC - KRT6A_000010 - PubMed: Liao 2007 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
+/. - c.516_518del r.(?) p.(Asn172del) - pathogenic (dominant) g.52886461_52886463del g.52492677_52492679del - - KRT6A_000010 - PubMed: Bowden 1995 - - Germline yes - - 0 - Johan den Dunnen
+/. - c.516_518del r.(?) p.(Asn172del) - pathogenic g.52886461_52886463del g.52492677_52492679del N171del - KRT6A_000010 - PubMed: Terrinoni 2001 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
+/. - c.516_518del r.(?) p.(Asn172del) - pathogenic g.52886461_52886463del g.52492677_52492679del N171del - KRT6A_000010 - PubMed: Terrinoni 2001 - - Germline - - - 0 - Johan den Dunnen
+/. - c.516_518del r.(?) p.(Asn172del) - pathogenic g.52886461_52886463del g.52492677_52492679del N171del - KRT6A_000010 - PubMed: Terrinoni 2001 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
+/. - c.516_518del r.(?) p.(Asn172del) - pathogenic g.52886461_52886463del g.52492677_52492679del 511-513del (N171del) - KRT6A_000010 - PubMed: Smith 2005 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
+/. - c.516_518del r.(?) p.(Asn172del) - pathogenic g.52886461_52886463del g.52492677_52492679del 511-513del (N171del) - KRT6A_000010 - PubMed: Smith 2005 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
+/. - c.516_518del r.(?) p.(Asn172del) - pathogenic g.52886461_52886463del g.52492677_52492679del 511-513del (N171del) - KRT6A_000010 - PubMed: Smith 2005 - - Germline - - - 0 - Johan den Dunnen
+/. - c.516_518del r.(?) p.(Asn172del) - pathogenic g.52886461_52886463del g.52492677_52492679del 511-513del (N171del) - KRT6A_000010 - PubMed: Smith 2005 - - Germline - - - 0 - Johan den Dunnen
+/. - c.516_518del r.(?) p.(Asn172del) - pathogenic g.52886461_52886463del g.52492677_52492679del 511-513del (N171del) - KRT6A_000010 - PubMed: Smith 2005 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
+/. - c.516_518del r.(?) p.(Asn172del) - pathogenic g.52886461_52886463del g.52492677_52492679del 511-513del (N171del) - KRT6A_000010 - PubMed: Smith 2005 - - Germline - - - 0 - Johan den Dunnen
+/. - c.516_518del r.(?) p.(Asn172del) - pathogenic g.52886461_52886463del g.52492677_52492679del c.516_518delCAA - KRT6A_000010 - PubMed: Wilson 2014 - - Germline - - - 0 - Johan den Dunnen
+/. - c.516_518del r.(?) p.(Asn172del) - pathogenic g.52886461_52886463del g.52492677_52492679del c.516_518delCAA - KRT6A_000010 - PubMed: Wilson 2014 - - Germline - - - 0 - Johan den Dunnen
+/. - c.516_518del r.(?) p.(Asn172del) - pathogenic g.52886461_52886463del g.52492677_52492679del c.516_518delCAA - KRT6A_000010 - PubMed: Wilson 2014 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
+/. - c.516_518del r.(?) p.(Asn172del) - pathogenic g.52886461_52886463del g.52492677_52492679del c.516_518delCAA - KRT6A_000010 - PubMed: Wilson 2014 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
+/. - c.516_518del r.(?) p.(Asn172del) - pathogenic g.52886461_52886463del g.52492677_52492679del c.516_518delCAA - KRT6A_000010 - PubMed: Wilson 2014 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
+/. - c.516_518del r.(?) p.(Asn172del) - pathogenic g.52886461_52886463del g.52492677_52492679del c.516_518delCAA - KRT6A_000010 - PubMed: Wilson 2014 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
+/. - c.516_518del r.(?) p.(Asn172del) - pathogenic g.52886461_52886463del g.52492677_52492679del c.516_518delCAA - KRT6A_000010 - PubMed: Wilson 2014 - - Germline - - - 0 - Johan den Dunnen
+/. - c.516_518del r.(?) p.(Asn172del) - pathogenic g.52886461_52886463del g.52492677_52492679del c.516_518delCAA - KRT6A_000010 - PubMed: Wilson 2014 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
+/. - c.516_518del r.(?) p.(Asn172del) - pathogenic g.52886461_52886463del g.52492677_52492679del c.516_518delCAA - KRT6A_000010 - PubMed: Wilson 2014 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
+/. - c.516_518del r.(?) p.(Asn172del) - pathogenic g.52886461_52886463del g.52492677_52492679del c.516_518delCAA - KRT6A_000010 - PubMed: Wilson 2014 - - Germline - - - 0 - Johan den Dunnen
+/. - c.516_518del r.(?) p.(Asn172del) - pathogenic g.52886461_52886463del g.52492677_52492679del 514_516delAAC - KRT6A_000010 - PubMed: Wilson 2011 - - Germline - - - 0 - Johan den Dunnen
+/. - c.516_518del r.(?) p.(Asn172del) - pathogenic g.52886461_52886463del g.52492677_52492679del 514_516delAAC - KRT6A_000010 - PubMed: Wilson 2011 - - Germline - - - 0 - Johan den Dunnen
+/. - c.516_518del r.(?) p.(Asn172del) - pathogenic g.52886461_52886463del g.52492677_52492679del 514_516delAAC - KRT6A_000010 - PubMed: Wilson 2011 - - Germline - - - 0 - Johan den Dunnen
+/. - c.516_518del r.(?) p.(Asn172del) - pathogenic g.52886461_52886463del g.52492677_52492679del 514_516delAAC - KRT6A_000010 - PubMed: Wilson 2011 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
+/. - c.516_518del r.(?) p.(Asn172del) - pathogenic g.52886461_52886463del g.52492677_52492679del 514_516delAAC - KRT6A_000010 - PubMed: Wilson 2011 - - Germline - - - 0 - Johan den Dunnen
+/. - c.516_518del r.(?) p.(Asn172del) - pathogenic g.52886461_52886463del g.52492677_52492679del 514_516delAAC - KRT6A_000010 - PubMed: Wilson 2011 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
+/. - c.516_518del r.(?) p.(Asn172del) - pathogenic g.52886461_52886463del g.52492677_52492679del 514_516delAAC - KRT6A_000010 - PubMed: Wilson 2011 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
+/. - c.516_518del r.(?) p.(Asn172del) - pathogenic g.52886461_52886463del g.52492677_52492679del 514_516delAAC - KRT6A_000010 - PubMed: Wilson 2011 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
+/. - c.516_518del r.(?) p.(Asn172del) - pathogenic g.52886461_52886463del g.52492677_52492679del 514_516delAAC - KRT6A_000010 - PubMed: Wilson 2011 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
+/. - c.516_518del r.(?) p.(Asn172del) - pathogenic g.52886461_52886463del g.52492677_52492679del 514_516delAAC - KRT6A_000010 - PubMed: Wilson 2011 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
+/. - c.516_518del r.(?) p.(Asn172del) - pathogenic g.52886461_52886463del g.52492677_52492679del 514_516delAAC - KRT6A_000010 - PubMed: Wilson 2011 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
+/. - c.516_518del r.(?) p.(Asn172del) - pathogenic g.52886461_52886463del g.52492677_52492679del 514_516delAAC - KRT6A_000010 - PubMed: Wilson 2011 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
+/. - c.516_518del r.(?) p.(Asn172del) - pathogenic g.52886461_52886463del g.52492677_52492679del 514_516delAAC - KRT6A_000010 - PubMed: Wilson 2011 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
+/. - c.516_518del r.(?) p.(Asn172del) - pathogenic g.52886461_52886463del g.52492677_52492679del 514_516delAAC - KRT6A_000010 - PubMed: Wilson 2011 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
+/. - c.516_518del r.(?) p.(Asn172del) - pathogenic g.52886461_52886463del g.52492677_52492679del 514_516delAAC - KRT6A_000010 - PubMed: Wilson 2011 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
+/. - c.516_518del r.(?) p.(Asn172del) - pathogenic g.52886461_52886463del g.52492677_52492679del 514_516delAAC - KRT6A_000010 - PubMed: Wilson 2011 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
+/. - c.516_518del r.(?) p.(Asn172del) - pathogenic g.52886461_52886463del g.52492677_52492679del Asn172del - KRT6A_000010 - PubMed: Lv 2009 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
+/. - c.520T>A r.(?) p.(Phe174Ile) - pathogenic g.52886453A>T g.52492669A>T - - chr12_007267 - PubMed: Wilson 2014 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
+/. - c.520T>G r.(?) p.(Phe174Val) - pathogenic g.52886453A>C g.52492669A>C - - chr12_007253 - PubMed: Terrinoni 2001 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
+/. - c.521T>C r.(?) p.(Phe174Ser) - pathogenic g.52886452A>G g.52492668A>G - - chr12_007256 - PubMed: Terrinoni 2001 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
+/. - c.521T>C r.(?) p.(Phe174Ser) - pathogenic g.52886452A>G g.52492668A>G - - chr12_007256 - PubMed: Smith 2005 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
+/. - c.521T>C r.(?) p.(Phe174Ser) - pathogenic g.52886452A>G g.52492668A>G - - chr12_007256 - PubMed: Smith 2005 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
+/. - c.521T>C r.(?) p.(Phe174Ser) - pathogenic g.52886452A>G g.52492668A>G - - chr12_007256 - PubMed: Wilson 2014 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
+/. - c.521T>C r.(?) p.(Phe174Ser) - pathogenic g.52886452A>G g.52492668A>G - - chr12_007256 - PubMed: Wilson 2011 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
+/. - c.521T>C r.(?) p.(Phe174Ser) - pathogenic g.52886452A>G g.52492668A>G - - chr12_007256 - PubMed: Wilson 2011 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
+/. - c.521T>C r.(?) p.(Phe174Ser) - pathogenic g.52886452A>G g.52492668A>G - - chr12_007256 - PubMed: Wilson 2011 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
+/. - c.521T>C r.(?) p.(Phe174Ser) - pathogenic g.52886452A>G g.52492668A>G - - chr12_007256 - PubMed: Wilson 2011 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
+/. - c.521T>C r.(?) p.(Phe174Ser) - pathogenic (dominant) g.52886452A>G - - - KRT6A_000013 - PubMed: Smith 1999 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
+/. - c.521T>C r.(?) p.(Phe174Ser) - pathogenic g.52886452A>G g.52492668A>G Phe174Ser - KRT6A_000013 - PubMed: Lv 2009 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
+/. - c.521T>C r.(?) p.(Phe174Ser) - pathogenic g.52886452A>G g.52492668A>G Phe174Ser - KRT6A_000013 - PubMed: Lv 2009 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
+/. - c.521T>G r.(?) p.(Phe174Cys) - pathogenic g.52886452A>C g.52492668A>C - - chr12_007294 - PubMed: Liao 2007 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
+/. - c.526T>C r.(?) p.(Ser176Pro) - pathogenic g.52886447A>G g.52492663A>G - - chr12_007260 - PubMed: Smith 2005 - - Germline - - - 0 - Johan den Dunnen
+/. - c.533T>A r.(?) p.(Ile178Asn) - pathogenic g.52886440A>T g.52492656A>T - - chr12_007268 - PubMed: Wilson 2014 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
+/. - c.533T>A r.(?) p.(Ile178Asn) - pathogenic g.52886440A>T g.52492656A>T Ile178Asn - chr12_007268 - PubMed: Lv 2009 - - Germline - - - 0 - Johan den Dunnen
+/. - c.541-2A>C r.spl p.? - pathogenic g.52885522T>G g.52491738T>G - - chr12_007271 - PubMed: Wilson 2014 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
+/. - c.541-2A>C r.spl p.? - pathogenic g.52885522T>G g.52491738T>G - - chr12_007271 - PubMed: Wilson 2011 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
+/. - c.541-2A>G r.spl p.(Val181_Gln186del) - pathogenic g.52885522T>C g.52491738T>C - - chr12_007270 - PubMed: Wilson 2014 - - Germline - - - 0 - Johan den Dunnen
+/. - c.541-2A>G r.spl p.(Val181_Gln186del) - pathogenic g.52885522T>C g.52491738T>C - - chr12_007270 - PubMed: Wilson 2014 - - Germline - - - 0 - Johan den Dunnen
+/. - c.541-2A>G r.spl p.(Val181_Gln186del) - pathogenic g.52885522T>C g.52491738T>C - - chr12_007270 - PubMed: Wilson 2014 - - Germline - - - 0 - Johan den Dunnen
+/. - c.541-2A>G r.spl p.? - pathogenic g.52885522T>C g.52491738T>C - - chr12_007270 - PubMed: Wilson 2011 - - Germline - - - 0 - Johan den Dunnen
+/. - c.541-1G>C r.spl p.? - pathogenic g.52885521C>G g.52491737C>G - - chr12_007269 - PubMed: Wilson 2014 - - Germline - - - 0 - Johan den Dunnen
+/. - c.541-1G>C r.spl p.? - pathogenic g.52885521C>G g.52491737C>G - - chr12_007269 - PubMed: Wilson 2011 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
+/. - c.541-1G>C r.spl p.? - pathogenic g.52885521C>G g.52491737C>G - - chr12_007269 - PubMed: Wilson 2011 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
+/. - c.541-1G>T r.spl p.? - pathogenic g.52885521C>A g.52491737C>A - - chr12_007283 - PubMed: Wilson 2011 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
-?/. - c.687C>T r.(?) p.(Val229=) - likely benign g.52885374G>A g.52491590G>A KRT6A(NM_005554.4):c.687C>T (p.V229=) - KRT6A_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
?/. - c.1244G>A r.(?) p.(Arg415His) - VUS g.52882292C>T - KRT6A(NM_005554.4):c.1244G>A (p.R415H) - KRT6A_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. - c.1303C>T r.(?) p.(Gln435Ter) - pathogenic g.52882233G>A g.52488449G>A - - chr12_007284 - PubMed: Wilson 2011 - - Germline - - - 0 - Johan den Dunnen
+/. - c.1381G>A r.(?) p.(Glu461Lys) - pathogenic g.52882155C>T g.52488371C>T - - chr12_007285 - PubMed: Wilson 2011 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
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