Full data view for gene KRT16

Information The variants shown are described using the NM_005557.3 transcript reference sequence.

80 entries on 1 page. Showing entries 1 - 80.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/. - c.5C>A r.(?) p.(Thr2Asn) Unknown - VUS g.39768936G>T g.41612684G>T KRT16(NM_005557.3):c.5C>A (p.T2N) - KRT16_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.43A>T r.(?) p.(Lys15Ter) Unknown - pathogenic g.39768898T>A g.41612646T>A - - KRT16_000032 - PubMed: Wilson 2011 - - Germline - - - 0 - DNA SEQ - - PC Fam51 PubMed: Wilson 2011 family - - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
-?/. - c.60C>T r.(?) p.(Ile20=) Unknown - likely benign g.39768881G>A g.41612629G>A KRT16(NM_005557.4):c.60C>T (p.I20=) - KRT16_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.207C>A r.(?) p.(Gly69=) Unknown - likely benign g.39768734G>T g.41612482G>T KRT16(NM_005557.4):c.207C>A (p.G69=) - KRT16_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.229_231dup r.(?) p.(Ser77dup) Unknown - VUS g.39768723_39768725dup g.41612471_41612473dup KRT16(NM_005557.4):c.227_229dupAGC (p.S77dup) - KRT16_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.362T>A r.(?) p.(Met121Lys) Unknown - pathogenic g.39768579A>T g.41612327A>T - - KRT16_000031 - PubMed: Wilson 2014 - - Germline - - - 0 - DNA SEQ - - PC Fam43 PubMed: Wilson 2014 family - - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
+/. - c.362T>A r.(?) p.(Met121Lys) Unknown - pathogenic g.39768579A>T g.41612327A>T - - KRT16_000031 - PubMed: Wilson 2011 - - Germline - - - 0 - DNA SEQ - - PC Fam52 PubMed: Wilson 2011 family - - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
+/. - c.362T>C r.(?) p.(Met121Thr) Unknown - pathogenic g.39768579A>G g.41612327A>G - - KRT16_000030 - PubMed: Terrinoni 2001 - - Germline/De novo (untested) - - - 0 - DNA SEQ - - PC Pat8 PubMed: Terrinoni 2001 patient - - - - - 0 - - 1 Johan den Dunnen
+/. - c.362T>C r.(?) p.(Met121Thr) Unknown - pathogenic g.39768579A>G g.41612327A>G - - KRT16_000030 - PubMed: Wilson 2014 - - Germline/De novo (untested) - - - 0 - DNA SEQ - - PC Fam44 PubMed: Wilson 2014 patient - - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
+/. - c.371T>A r.(?) p.(Leu124His) Unknown - pathogenic g.39768570A>T g.41612318A>T - - KRT16_000029 - PubMed: Smith 2005 - - Germline/De novo (untested) - - - 0 - DNA SEQ - - PC Fam10 PubMed: Smith 2005 patient - - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
+/. - c.371T>A r.(?) p.(Leu124His) Unknown - pathogenic g.39768570A>T g.41612318A>T - - KRT16_000029 - PubMed: Wilson 2014 - - Germline - - - 0 - DNA SEQ - - PC Fam45 PubMed: Wilson 2014 family - - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
+/. - c.371T>A r.(?) p.(Leu124His) Unknown - pathogenic g.39768570A>T g.41612318A>T - - KRT16_000029 - PubMed: Wilson 2014 - - Germline - - - 0 - DNA SEQ - - PC Fam46 PubMed: Wilson 2014 family - - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
+/. - c.371T>A r.(?) p.(Leu124His) Unknown - pathogenic g.39768570A>T g.41612318A>T - - KRT16_000029 - PubMed: Wilson 2011 - - Germline - - - 0 - DNA SEQ - - PC Fam53 PubMed: Wilson 2011 family - - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
+/. - c.371T>C r.(?) p.(Leu124Pro) Unknown - pathogenic g.39768570A>G g.41612318A>G - - KRT16_000028 - PubMed: Smith 2005 - - Germline/De novo (untested) - - Xcm+ 0 - DNA SEQ - - PC Fam9 PubMed: Smith 2005 patient - - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
+/. - c.371T>C r.(?) p.(Leu124Pro) Unknown - pathogenic g.39768570A>G g.41612318A>G - - KRT16_000028 - PubMed: Wilson 2011 - - Germline - - - 0 - DNA SEQ - - PC Fam54 PubMed: Wilson 2011 family - - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
+/. - c.371_373del r.(?) p.(Leu124_Asn125delinsHis) Unknown - pathogenic g.39768568_39768570del g.41612316_41612318del 371_373delTCA - KRT16_000027 - PubMed: Wilson 2011 - - Germline - - - 0 - DNA SEQ - - PC Fam67 PubMed: Wilson 2011 family - - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
+/. - c.373A>G r.(?) p.(Asn125Asp) Unknown - pathogenic g.39768568T>C g.41612316T>C - - KRT16_000026 - PubMed: Smith 2005 - - Germline - - - 0 - DNA SEQ - - PC Fam11 PubMed: Smith 2005 family - - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
+/. - c.373A>G r.(?) p.(Asn125Asp) Unknown - pathogenic g.39768568T>C g.41612316T>C - - KRT16_000026 - PubMed: Wilson 2014 - - Germline - - - 0 - DNA SEQ - - PC Fam47 PubMed: Wilson 2014 family - - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
+/. - c.373_374delinsGG r.(?) p.(Asn125Gly) Unknown - pathogenic (dominant) g.39768567_39768568delinsCC - AA373_374GG - KRT16_000015 - PubMed: Du 2012 - - Germline yes - - 0 - DNA SEQ - - PC family PubMed: Du 2012 2-generation family, affected mother/daughter; mother F - China - - 0 - - 2 Johan den Dunnen
+/. - c.373_374delinsGG r.(?) p.(Asn125Gly) Maternal (confirmed) - pathogenic (dominant) g.39768567_39768568delinsCC - AA373_374GG - KRT16_000015 - PubMed: Du 2012 - - Germline yes - - 0 - DNA SEQ - - PC family PubMed: Du 2012 daughter F - China - - 0 - - 1 Johan den Dunnen
+/. - c.374A>G r.(?) p.(Asn125Ser) Unknown - pathogenic g.39768567T>C g.41612315T>C 374A>G - KRT16_000025 - PubMed: Smith 2005 - - Germline - - - 0 - DNA SEQ - - PC Fam21 PubMed: Smith 2005 family - - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
+/. - c.374A>G r.(?) p.(Asn125Ser) Unknown - pathogenic g.39768567T>C g.41612315T>C 374A>G - KRT16_000025 - PubMed: Smith 2005 - - Germline - - - 0 - DNA SEQ - - PC Fam22 PubMed: Smith 2005 family - - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
+/. - c.374A>G r.(?) p.(Asn125Ser) Unknown - pathogenic g.39768567T>C g.41612315T>C - - KRT16_000025 - PubMed: Wilson 2014 - - Germline/De novo (untested) - - - 0 - DNA SEQ - - PC Fam48 PubMed: Wilson 2014 patient - - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
+/. - c.374A>G r.(?) p.(Asn125Ser) Unknown - pathogenic g.39768567T>C g.41612315T>C - - KRT16_000025 - PubMed: Wilson 2014 - - Germline/De novo (untested) - - - 0 - DNA SEQ - - PC Fam49 PubMed: Wilson 2014 patient - - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
+/. - c.374A>G r.(?) p.(Asn125Ser) Unknown - pathogenic g.39768567T>C g.41612315T>C - - KRT16_000025 - PubMed: Wilson 2014 - - Germline - - - 0 - DNA SEQ - - PC Fam50 PubMed: Wilson 2014 family - - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
+/. - c.374A>G r.(?) p.(Asn125Ser) Unknown - pathogenic g.39768567T>C g.41612315T>C - - KRT16_000025 - PubMed: Wilson 2014 - - Germline - - - 0 - DNA SEQ - - PC Fam51 PubMed: Wilson 2014 family - - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
+/. - c.374A>G r.(?) p.(Asn125Ser) Unknown - pathogenic g.39768567T>C g.41612315T>C - - KRT16_000025 - PubMed: Wilson 2014 - - Germline/De novo (untested) - - - 0 - DNA SEQ - - PC Fam52 PubMed: Wilson 2014 patient - - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
+/. - c.374A>G r.(?) p.(Asn125Ser) Unknown - pathogenic g.39768567T>C g.41612315T>C - - KRT16_000025 - PubMed: Wilson 2014 - - Germline - - - 0 - DNA SEQ - - PC Fam53 PubMed: Wilson 2014 family - - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
+/. - c.374A>G r.(?) p.(Asn125Ser) Unknown - pathogenic g.39768567T>C g.41612315T>C - - KRT16_000025 - PubMed: Wilson 2011 - - Germline/De novo (untested) - - - 0 - DNA SEQ - - PC Fam55 PubMed: Wilson 2011 patient - - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
+/. - c.374A>G r.(?) p.(Asn125Ser) Unknown - pathogenic g.39768567T>C g.41612315T>C - - KRT16_000025 - PubMed: Wilson 2011 - - Germline/De novo (untested) - - - 0 - DNA SEQ - - PC Fam56 PubMed: Wilson 2011 patient - - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
+/. - c.374A>G r.(?) p.(Asn125Ser) Unknown - pathogenic g.39768567T>C g.41612315T>C - - KRT16_000025 - PubMed: Wilson 2011 - - Germline/De novo (untested) - - - 0 - DNA SEQ - - PC Fam57 PubMed: Wilson 2011 patient - - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
+/. - c.374A>G r.(?) p.(Asn125Ser) Unknown - pathogenic g.39768567T>C g.41612315T>C - - KRT16_000025 - PubMed: Liao 2007 - - Germline/De novo (untested) - - - 0 - DNA SEQ - - PC Fam17 PubMed: Liao 2007 patient - - - - - 0 - - 1 Johan den Dunnen
+/. - c.374A>G r.(?) p.(Asn125Ser) Unknown - pathogenic g.39768567T>C g.41612315T>C - - KRT16_000025 - PubMed: Liao 2007 - - Germline - - - 0 - DNA SEQ - - PC Fam18 PubMed: Liao 2007 6-generation family, >8 affected - - - - - 0 - - 8 Johan den Dunnen
+/. - c.374A>G r.(?) p.(Asn125Ser) Unknown - pathogenic g.39768567T>C g.41612315T>C - - KRT16_000025 - PubMed: Liao 2007 - - Germline - - - 0 - DNA SEQ - - PC Fam19 PubMed: Liao 2007 3-generation family - - - - - 0 - - 2 Johan den Dunnen
+/. - c.379C>A r.(?) p.(Arg127Ser) Unknown - pathogenic g.39768562G>T g.41612310G>T - - KRT16_000024 - PubMed: Wilson 2014 - - Germline - - - 0 - DNA SEQ - - PC Fam61 PubMed: Wilson 2014 family - - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
+/. - c.379C>G r.(?) p.(Arg127Gly) Unknown - pathogenic g.39768562G>C g.41612310G>C - - KRT16_000023 - PubMed: Wilson 2014 - - Germline - - - 0 - DNA SEQ - - PC Fam55 PubMed: Wilson 2014 family - - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
+/. - c.379C>T r.(?) p.(Arg127Cys) Unknown - pathogenic g.39768562G>A g.41612310G>A KRT16(NM_005557.4):c.379C>T (p.R127C) - KRT16_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.379C>T r.(?) p.(Arg127Cys) Unknown - pathogenic g.39768562G>A g.41612310G>A - - KRT16_000009 - PubMed: Smith 2005 - - Germline/De novo (untested) - - - 0 - DNA SEQ - - PC Fam23 PubMed: Smith 2005 patient - - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
+/. - c.379C>T r.(?) p.(Arg127Cys) Unknown - pathogenic g.39768562G>A g.41612310G>A - - KRT16_000009 - PubMed: Wilson 2014 - - Germline - - - 0 - DNA SEQ - - PC Fam56 PubMed: Wilson 2014 family - - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
+/. - c.379C>T r.(?) p.(Arg127Cys) Unknown - pathogenic g.39768562G>A g.41612310G>A - - KRT16_000009 - PubMed: Wilson 2014 - - Germline - - - 0 - DNA SEQ - - PC Fam57 PubMed: Wilson 2014 family - - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
+/. - c.379C>T r.(?) p.(Arg127Cys) Unknown - pathogenic g.39768562G>A g.41612310G>A - - KRT16_000009 - PubMed: Wilson 2014 - - Germline - - - 0 - DNA SEQ - - PC Fam58 PubMed: Wilson 2014 family - - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
+/. - c.379C>T r.(?) p.(Arg127Cys) Unknown - pathogenic g.39768562G>A g.41612310G>A - - KRT16_000009 - PubMed: Wilson 2014 - - Germline - - - 0 - DNA SEQ - - PC Fam59 PubMed: Wilson 2014 family - - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
+/. - c.379C>T r.(?) p.(Arg127Cys) Unknown - pathogenic g.39768562G>A g.41612310G>A - - KRT16_000009 - PubMed: Wilson 2014 - - Germline - - - 0 - DNA SEQ - - PC Fam60 PubMed: Wilson 2014 family - - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
+/. - c.379C>T r.(?) p.(Arg127Cys) Unknown - pathogenic g.39768562G>A g.41612310G>A - - KRT16_000009 - PubMed: Wilson 2011 - - Germline - - - 0 - DNA SEQ - - PC Fam58 PubMed: Wilson 2011 family - - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
+/. - c.379C>T r.(?) p.(Arg127Cys) Unknown - pathogenic g.39768562G>A g.41612310G>A - - KRT16_000009 - PubMed: Wilson 2011 - - Germline - - - 0 - DNA SEQ - - PC Fam59 PubMed: Wilson 2011 family - - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
+/. - c.379C>T r.(?) p.(Arg127Cys) Unknown - pathogenic g.39768562G>A g.41612310G>A - - KRT16_000009 - PubMed: Wilson 2011 - - Germline - - - 0 - DNA SEQ - - PC Fam60 PubMed: Wilson 2011 family - - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
+/. - c.379C>T r.(?) p.(Arg127Cys) Unknown - pathogenic g.39768562G>A g.41612310G>A - - KRT16_000009 - PubMed: Wilson 2011 - - Germline/De novo (untested) - - - 0 - DNA SEQ - - PC Fam61 PubMed: Wilson 2011 patient - - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
+/. - c.379C>T r.(?) p.(Arg127Cys) Unknown - pathogenic g.39768562G>A g.41612310G>A - - KRT16_000009 - PubMed: Wilson 2011 - - Germline - - - 0 - DNA SEQ - - PC Fam62 PubMed: Wilson 2011 family - - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
+/. - c.380G>A r.(?) p.(Arg127His) Unknown - pathogenic g.39768561C>T g.41612309C>T - - KRT16_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.380G>A r.(?) p.(Arg127His) Unknown - pathogenic g.39768561C>T g.41612309C>T c.381G>A (Arg127His) - KRT16_000008 - PubMed: Wilson 2014 - - Germline - - - 0 - DNA SEQ - - PC Fam62 PubMed: Wilson 2014 family - - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
+/. - c.380G>C r.(?) p.(Arg127Pro) Unknown - pathogenic g.39768561C>G g.41612309C>G - - KRT16_000022 - PubMed: Wilson 2014 - - Germline - - - 0 - DNA SEQ - - PC Fam54 PubMed: Wilson 2014 family - - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
+/. - c.380G>C r.(?) p.(Arg127Pro) Unknown - pathogenic g.39768561C>G g.41612309C>G - - KRT16_000022 - PubMed: Wilson 2011 - - Germline/De novo (untested) - - - 0 - DNA SEQ - - PC Fam63 PubMed: Wilson 2011 patient - - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
+/. - c.380G>C r.(?) p.(Arg127Pro) Unknown - pathogenic g.39768561C>G g.41612309C>G - - KRT16_000022 - PubMed: Liao 2007 - - Germline/De novo (untested) - - - 0 - DNA SEQ - - PC Fam20 PubMed: Liao 2007 patient - - - - - 0 - - 1 Johan den Dunnen
+/. - c.383T>A r.(?) p.(Leu128Gln) Unknown - pathogenic g.39768558A>T g.41612306A>T - - KRT16_000021 - PubMed: Terrinoni 2001 - - Germline/De novo (untested) - - - 0 - DNA SEQ - - PC Pat9 PubMed: Terrinoni 2001 patient - - - - - 0 - - 1 Johan den Dunnen
+/. - c.383T>A r.(?) p.(Leu128Gln) Unknown - pathogenic g.39768558A>T g.41612306A>T - - KRT16_000021 - PubMed: Liao 2007 - - Germline/De novo (untested) - - - 0 - DNA SEQ - - PC Fam21 PubMed: Liao 2007 patient - - - - - 0 - - 1 Johan den Dunnen
+/. - c.389_391del r.(?) p.(Ser130del) Unknown - pathogenic g.39768553_39768555del g.41612301_41612303del c.389-391delCCT - KRT16_000020 - PubMed: Wilson 2014 - - Germline - - - 0 - DNA SEQ - - PC Fam63 PubMed: Wilson 2014 family - - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
+/. - c.389_391del r.(?) p.(Ser130del) Unknown - pathogenic g.39768553_39768555del g.41612301_41612303del 389_391delCCT - KRT16_000020 - PubMed: Wilson 2011 - - Germline/De novo (untested) - - - 0 - DNA SEQ - - PC Fam64 PubMed: Wilson 2011 patient - - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
+/. - c.389_391del r.(?) p.(Ser130del) Unknown - pathogenic g.39768553_39768555del g.41612301_41612303del 389_391delCCT - KRT16_000020 - PubMed: Wilson 2011 - - Germline/De novo (untested) - - - 0 - DNA SEQ - - PC Fam65 PubMed: Wilson 2011 patient - - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
+/. - c.389_391del r.(?) p.(Ser130del) Unknown - pathogenic g.39768553_39768555del g.41612301_41612303del 389_391delCCT - KRT16_000020 - PubMed: Wilson 2011 - - Germline/De novo (untested) - - - 0 - DNA SEQ - - PC Fam66 PubMed: Wilson 2011 patient - - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
+/. - c.395T>C r.(?) p.(Leu132Pro) Unknown - pathogenic g.39768546A>G g.41612294A>G 395T>C - KRT16_000019 - PubMed: Smith 2005 - - Germline - - - 0 - DNA SEQ - - PC Fam24 PubMed: Smith 2005 family - - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
+/. - c.395T>C r.(?) p.(Leu132Pro) Unknown - pathogenic g.39768546A>G g.41612294A>G 395T>C - KRT16_000019 - PubMed: Smith 2005 - - Germline - - - 0 - DNA SEQ - - PC Fam25 PubMed: Smith 2005 family - - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
+/. - c.395T>C r.(?) p.(Leu132Pro) Unknown - pathogenic g.39768546A>G g.41612294A>G - - KRT16_000019 - PubMed: Wilson 2014 - - Germline - - - 0 - DNA SEQ - - PC Fam64 PubMed: Wilson 2014 family - - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
+/. - c.395T>C r.(?) p.(Leu132Pro) Unknown - pathogenic g.39768546A>G g.41612294A>G - - KRT16_000019 - PubMed: Wilson 2011 - - Germline/De novo (untested) - - - 0 - DNA SEQ - - PC Fam68 PubMed: Wilson 2011 patient - - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
+/. - c.395T>C r.(?) p.(Leu132Pro) Unknown - pathogenic g.39768546A>G g.41612294A>G - - KRT16_000019 - PubMed: Wilson 2011 - - Germline/De novo (untested) - - - 0 - DNA SEQ - - PC Fam69 PubMed: Wilson 2011 patient - - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
+/. - c.395T>C r.(?) p.(Leu132Pro) Unknown - pathogenic g.39768546A>G g.41612294A>G - - KRT16_000019 - PubMed: Wilson 2011 - - Germline/De novo (untested) - - - 0 - DNA SEQ - - PC Fam70 PubMed: Wilson 2011 patient - - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
+/. - c.395T>C r.(?) p.(Leu132Pro) Unknown - pathogenic g.39768546A>G g.41612294A>G - - KRT16_000019 - PubMed: Wilson 2011 - - Germline/De novo (untested) - - - 0 - DNA SEQ - - PC Fam71 PubMed: Wilson 2011 patient - - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
+/. - c.395T>C r.(?) p.(Leu132Pro) Unknown - pathogenic g.39768546A>G g.41612294A>G - - KRT16_000019 - PubMed: Wilson 2011 - - Germline - - - 0 - DNA SEQ - - PC Fam72 PubMed: Wilson 2011 family - - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
+/. - c.395T>C r.(?) p.(Leu132Pro) Unknown - pathogenic g.39768546A>G g.41612294A>G - - KRT16_000019 - PubMed: Wilson 2011 - - Germline/De novo (untested) - - - 0 - DNA SEQ - - PC Fam73 PubMed: Wilson 2011 patient - - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
+/. - c.395T>C r.(?) p.(Leu132Pro) Unknown - pathogenic g.39768546A>G g.41612294A>G - - KRT16_000019 - PubMed: Wilson 2011 - - Germline/De novo (untested) - - - 0 - DNA SEQ - - PC Fam74 PubMed: Wilson 2011 patient - - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
+/. - c.395T>C r.(?) p.(Leu132Pro) Unknown - pathogenic g.39768546A>G g.41612294A>G - - KRT16_000019 - PubMed: Wilson 2011 - - Germline - - - 0 - DNA SEQ - - PC Fam75 PubMed: Wilson 2011 family - - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
-?/. 2i c.614+55C>T r.(?) p.(=) Both (homozygous) - likely benign g.39767836G>A g.41611584G>A - - KRT16_000001 - - - - Germline - - - 0 - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
-/. - c.624T>C r.(?) p.(His208=) Unknown - benign g.39767744A>G g.41611492A>G KRT16(NM_005557.4):c.624T>C (p.H208=) - KRT16_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.674G>A r.(?) p.(Arg225Gln) Unknown - likely benign g.39767694C>T g.41611442C>T KRT16(NM_005557.4):c.674G>A (p.R225Q) - KRT16_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.887T>C r.(?) p.(Met296Thr) Parent #1 - VUS g.39767367A>G g.41611115A>G - - KRT16_000014 18 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs145649029 Germline - 18/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 18 Mohammed Faruq
+/. - c.1052_1059+16del r.spl p.? Unknown - pathogenic g.39767096_39767119del g.41610844_41610867del c.1052_1059+16del24 - KRT16_000018 - PubMed: Liao 2007 - - Germline/De novo (untested) - - - 0 - DNA SEQ - - PC Fam16 PubMed: Liao 2007 patient - - - - - 0 - - 1 Johan den Dunnen
?/. - c.1180G>T r.(?) p.(Glu394Ter) Unknown - VUS g.39766683C>A g.41610431C>A KRT16(NM_005557.3):c.1180G>T (p.E394*) - KRT16_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 6 c.1223C>T r.(?) p.(Thr408Met) Both (homozygous) - VUS g.39766640G>A g.41610388G>A - - KRT16_000002 not associated with disease phenotype PubMed: Corbett 2011, Journal: Corbett 2011 - - Germline - - - 0 - DNA arraySNP, SEQ, SEQ-NG - - EPM6 Pat1 PubMed: Corbett 2011, Journal: Corbett 2011 2-generation family, 1 affected, unaffected heterozygous carrier parents/sib F yes Australia - 32y 0 - - 1 Johan den Dunnen
+/. - c.1253G>C r.(?) p.(Arg418Pro) Unknown - pathogenic g.39766610C>G g.41610358C>G - - KRT16_000017 - PubMed: Wilson 2014 - - Germline - - - 0 - DNA SEQ - - PC Fam65 PubMed: Wilson 2014 family - - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
+/. - c.1253_1258del r.(?) p.(Arg418_Arg419del) Unknown - pathogenic g.39766607_39766612del g.41610355_41610360del c.1253_1258delGCCGCC - KRT16_000016 - PubMed: Wilson 2014 - - Germline - - - 0 - DNA SEQ - - PC Fam66 PubMed: Wilson 2014 family - - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
-/. - c.1281-16T>C r.(=) p.(=) Unknown - benign g.39766504A>G g.41610252A>G KRT16(NM_005557.4):c.1281-16T>C - KRT16_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
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