Full data view for gene KRT1

Information The variants shown are described using the NM_006121.3 transcript reference sequence.

118 entries on 2 pages. Showing entries 1 - 100.
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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.75C>T r.(=) p.(=) Parent #1 - likely benign g.53074058G>A g.52680274G>A - - KRT1_000089 263 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs828367 Germline - 263/2792 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 263 Mohammed Faruq
-?/. - c.75C>T r.(=) p.(=) Both (homozygous) - likely benign g.53074058G>A g.52680274G>A - - KRT1_000089 11 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs828367 Germline - 11/2792 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 11 Mohammed Faruq
?/. - c.112C>T r.(?) p.(Arg38Cys) Unknown - VUS g.53074021G>A g.52680237G>A KRT1(NM_006121.4):c.112C>T (p.R38C) - KRT1_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.113G>A r.(?) p.(Arg38His) Unknown - VUS g.53074020C>T - KRT1(NM_006121.4):c.113G>A (p.R38H) - KRT1_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.193C>T r.(?) p.(Arg65Trp) Unknown - likely benign g.53073940G>A - KRT1(NM_006121.4):c.193C>T (p.R65W) - KRT1_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.221A>T r.(?) p.(Lys74Ile) Parent #1 - pathogenic g.53073912T>A g.52680128T>A - - KRT1_000008 Not found in 50 controls PubMed: Kimonis 1994, OMIM:var0004 - - Germline yes - - - - DNA SEQ - - NEPPK - - - - - - - - - - - 1 Michel van Geel
-?/. - c.315T>G r.(?) p.(Gly105=) Unknown - likely benign g.53073818A>C g.52680034A>C KRT1(NM_006121.3):c.315T>G (p.G105=) - KRT1_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.318_332del r.(?) p.(Phe109_Gly113del) Unknown - likely benign g.53073837_53073851del g.52680053_52680067del KRT1(NM_006121.3):c.318_332del (p.(Gly108_Gly112del)) - KRT1_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.464T>A r.(?) p.(Val155Asp) Maternal (inferred) - pathogenic g.53073669A>T g.52679885A>T - - KRT1_000018 Not found in 50 controls PubMed: Whittock 2001 - - Germline yes - - - - DNA SEQ - - Burkitt lymphoma - - - F - United Kingdom (Great Britain) Anglo-Saxon - - - - 1 Michel van Geel
+/. 1 c.464T>G r.(?) p.(Val155Gly) Parent #1 - pathogenic g.53073669A>C g.52679885A>C - - KRT1_000003 Not found in 53 controls PubMed: Yang 1994 - - Germline yes - - - - DNA SEQ - - CIEHK - - Family I027, 3 generations, 6 affected - - - - - - - - 1 Michel van Geel
+/. 1 c.482T>C r.(?) p.(Leu161Pro) Parent #1 - pathogenic g.53073651A>G g.52679867A>G - - KRT1_000002 Not found in 50 controls PubMed: Chipev 1992, OMIM:var0002 - - Germline yes - - - - DNA SEQ - - CIEHK - - - - - - - - - - - 1 Michel van Geel
-/. 1 c.507_518del r.(?) p.(Asp170_Ile173del) Unknown - benign g.53073620_53073631del g.52679836_52679847del - - KRT1_000019 mutation published (abstract): J Invest Dermatol 1999; Vol 113, No 3: 497 (399). PubMed: Virtanen 2001, PubMed: 14708600 - - Unknown yes - - - - DNA SEQ - - CIEHK - PubMed: Virtanen 2003 - M - Sweden Sweden;Norway - - - - 1 Michel van Geel
+/. 1 c.531G>T r.(?) p.(Lys177Asn) Unknown - pathogenic g.53073602C>A g.52679818C>A - - KRT1_000021 mutation published (abstract): J Invest Dermatol 1999; Vol 113, No 3: 497 (400). PubMed: Virtanen 2001, PubMed: 14708600 - - Unknown yes - - - - DNA SEQ - - CIEHK - PubMed: Virtanen 2003 - M - Sweden Sweden;Norway - - - - 1 Michel van Geel
+/. 1 c.536G>C r.(?) p.(Arg179Pro) Unknown - pathogenic g.53073597C>G g.52679813C>G - - KRT1_000009 Not found in 50 controls PubMed: Yang 1996 - - De novo - - - - - DNA SEQ - - CIEHK - - - F - - - - - - - 1 Michel van Geel
+/. 1 c.556T>C r.(?) p.(Ser186Pro) Parent #1 - pathogenic g.53073577A>G g.52679793A>G - - KRT1_000006 Not found in 60 controls PubMed: McLean 1994 - - Germline yes - - - - DNA SEQ - - CIEHK - - - - - - - - - - - 1 Michel van Geel
+/. 1 c.559C>T r.(?) p.(Leu187Phe) Unknown - pathogenic g.53073574G>A g.52679790G>A - - KRT1_000037 - PubMed: Uezato 2005 - - De novo - - - - - DNA SEQ - - CIEHK - - - - - - - - - - - 1 Michel van Geel
+/. 1 c.559C>T r.(?) p.(Leu187Phe) Unknown - pathogenic g.53073574G>A g.52679790G>A - - KRT1_000037 - PubMed: Math 2006 - - De novo - - - - - DNA SEQ - - CIEHK - - - M - Kazakhstan - - - - - 1 Michel van Geel
+/. 1 c.563A>C r.(?) p.(Asn188Thr) Unknown - pathogenic g.53073570T>G g.52679786T>G - - KRT1_000014 - PubMed: Arin 1999 - - De novo - - - - - DNA SEQ - - CIEHK - - - M - - - - - - - 1 Michel van Geel
+/. 1 c.563A>G r.(?) p.(Asn188Ser) Unknown - pathogenic g.53073570T>C g.52679786T>C - - KRT1_000004 Not found in 50 controls PubMed: Yang 1994 - - De novo - - - - - DNA SEQ - - CIEHK - - Family I002 - - - - - - - - 1 Michel van Geel
+/. 1 c.563A>G r.(?) p.(Asn188Ser) Unknown - pathogenic g.53073570T>C g.52679786T>C - - KRT1_000004 Not found in 60 controls PubMed: McLean 1994 - - Unknown yes - - - - DNA SEQ - - CIEHK - - - - - - - - - - - 1 Michel van Geel
+/. 1 c.563A>G r.(?) p.(Asn188Ser) Maternal (confirmed) - pathogenic g.53073570T>C g.52679786T>C - - KRT1_000004 mosaicism in the mother PubMed: Nomura 2001 - - Germline yes - - - - DNA SEQ - - Burkitt lymphoma - - somatic mosaicism in the mother - - - - - - - - 1 Michel van Geel
+/. 1 c.563A>G r.(?) p.(Asn188Ser) Parent #1 - pathogenic g.53073570T>C g.52679786T>C - - KRT1_000004 - PubMed: Gach 2005 - - Germline yes - - - - DNA SEQ - - EPPK - - Family 1, 11 affected - - - - - - - - 11 Michel van Geel
+/. 1 c.563A>G r.(?) p.(Asn188Ser) Parent #1 - pathogenic g.53073570T>C g.52679786T>C - - KRT1_000004 - PubMed: Gach 2005 - - Germline yes - - - - DNA SEQ - - CIEHK - - Family 2, 2 affected - - - - - - - - 2 Johan den Dunnen
+/. 1 c.563A>G r.(?) p.(Asn188Ser) Unknown - pathogenic g.53073570T>C g.52679786T>C - - KRT1_000004 - PubMed: Arin 2011 - - De novo - - - - - DNA SEQ - - CIEHK - - patient 1 - - Germany - - - - - 1 Johan den Dunnen
+/. - c.563A>G r.(?) p.(Asn188Ser) Unknown - pathogenic g.53073570T>C g.52679786T>C KRT1(NM_006121.4):c.563A>G (p.N188S) - KRT1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.564C>A r.(?) p.(Asn188Lys) Unknown - pathogenic g.53073569G>T g.52679785G>T - - KRT1_000031 Not found in 50 controls PubMed: Lee 2002 - - De novo - - - - - DNA SEQ - - CIEHK - - - - - - - - - - - 1 Michel van Geel
+/. 1 c.564C>A r.(?) p.(Asn188Lys) Unknown - pathogenic g.53073569G>T g.52679785G>T - - KRT1_000031 - PubMed: Arin 2011 - - De novo - - - - - DNA SEQ - - CIEHK - - - - - Germany - - - - - 1 Johan den Dunnen
+/. 1 c.571T>A r.(?) p.(Phe191Ile) Maternal (inferred) - pathogenic g.53073562A>T g.52679778A>T - - KRT1_000051 - PubMed: Chassaing 2006 - - De novo - - - - - DNA SEQ - - Burkitt lymphoma - - Family 1 M - - - 11d - - - 1 Michel van Geel
+/. 1 c.572T>G r.(?) p.(Phe191Cys) Unknown - pathogenic g.53073561A>C g.52679777A>C c.573T>G - KRT1_000023 mutation first published (abstract): J Invest Dermatol 1999; Vol 113, No 3: 497 (400). Corrected in Virtanen, J Invest Dermatol 2003 vol. 121 (5) pp. 1013-20. PubMed: Virtanen 2001, PubMed: 14708600 - - Unknown ? - - - - DNA SEQ - - CIEHK - PubMed: Virtanen 2003 - M - (Sweden) South American - - - - 1 Michel van Geel
+/. 1 c.577T>C r.(?) p.(Ser193Pro) Unknown - pathogenic g.53073556A>G g.52679772A>G - - KRT1_000005 Not found in 47 controls PubMed: Yang 1994 - - De novo - - - - - DNA SEQ - - CIEHK - - Family 3138 - - - - - - - - 1 Michel van Geel
+/. 1i c.591+1G>A r.526_591del p.(Val176_Lys197del) Unknown - pathogenic g.53073541C>T g.52679757C>T - - KRT1_000024 mutation published (abstract): J Invest Dermatol 1999; Vol 113, No 3: 497 (399). Not found in 50 controls. PubMed: Virtanen 2001, PubMed: 14708600 - - Unknown yes - - - - DNA, RNA RT-PCR, SEQ - - CIEHK - PubMed: Virtanen 2003 - M - Sweden Sweden;Norway - - - - 1 Michel van Geel
+/. 1i c.591+1G>C r.526_591del p.(Val176_Lys197del) Unknown - pathogenic g.53073541C>G g.52679757C>G - - KRT1_000025 mutation published (abstract): J Invest Dermatol 1999; Vol 113, No 3: 497 (399). Not found in 50 controls. PubMed: Virtanen 2001, PubMed: 14708600 - - Unknown yes - - - - DNA, RNA RT-PCR, SEQ - - CIEHK - PubMed: Virtanen 2003 - M - Sweden Sweden;Norway - - - - 1 Michel van Geel
+/. 1i c.591+2T>A r.526_591del p.(Val176_Lys197del) Parent #1 - pathogenic g.53073540A>T g.52679756A>T - - KRT1_000029 - PubMed: Terron-Kwiatkowski 2002 - - Germline yes - - - - DNA, RNA RT-PCR, SEQ - - ? - - family, 2 affected - - - - - - - - 2 Michel van Geel
+/. 1i c.591+2T>A r.526_591del p.(Val176_Lys197del) Unknown - pathogenic g.53073540A>T g.52679756A>T - - KRT1_000029 - PubMed: Tsubota 2007 - - Somatic yes - - - - DNA, RNA RT-PCR, SEQ - - CIEHK - - - - - Japan - - - - - 1 Michel van Geel
+/. 1i c.591+3_591+6del r.526_591del p.(Val176_Lys197del) Unknown - pathogenic g.53073538_53073541del g.52679754_52679757del - - KRT1_000035 - PubMed: Tal 2005 - - De novo - - - - - DNA, RNA RT-PCR, SEQ - - CIEHK - - - - - - - - - - - 1 Michel van Geel
-?/. - c.592-8G>A r.(=) p.(=) Unknown - likely benign g.53072548C>T g.52678764C>T KRT1(NM_006121.3):c.592-8G>A (p.(=)), KRT1(NM_006121.4):c.592-8G>A - KRT1_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.592-8G>A r.(=) p.(=) Unknown - likely benign g.53072548C>T g.52678764C>T KRT1(NM_006121.3):c.592-8G>A (p.(=)), KRT1(NM_006121.4):c.592-8G>A - KRT1_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.623T>C r.(?) p.(Leu208Pro) Parent #1 - pathogenic g.53072509A>G g.52678725A>G - - KRT1_000049 - PubMed: Liu 2006 - - Unknown ? - - - - DNA SEQ - - Burkitt lymphoma - - - - - - - - - - - 1 Michel van Geel
+/. 2 c.641T>C r.(?) p.(Leu214Pro) Parent #1 - pathogenic g.53072491A>G g.52678707A>G - - KRT1_000015 Not found in 50 controls PubMed: Cserhalmi-Friedman 2000 - - Germline yes - - - - DNA SEQ - - Burkitt lymphoma - - Family, 14 affected - - - Hispanic - - - - 14 Michel van Geel
?/. - c.655G>T r.(?) p.(Asp219Tyr) Unknown - VUS g.53072477C>A g.52678693C>A KRT1(NM_006121.4):c.655G>T (p.D219Y) - KRT1_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.693T>G r.(?) p.(Phe231Leu) Parent #1 - pathogenic g.53072439A>C g.52678655A>C - - KRT1_000052 - PubMed: Grimberg 2009 - - Germline yes - - - - DNA SEQ - - NEPPK - - Family 2 - - - - - - - - 1 Michel van Geel
+/. 2 c.698C>T r.(?) p.(Ser233Leu) Parent #1 - pathogenic g.53072434G>A g.52678650G>A - - KRT1_000046 - PubMed: Terron-Kwiatkowski 2006 - - Germline yes - - - - DNA SEQ - - EPPK - - Family L - - Netherlands - - - - - 1 Michel van Geel
+/. 2 c.698C>T r.(?) p.(Ser233Leu) Parent #1 - pathogenic g.53072434G>A g.52678650G>A - - KRT1_000046 - PubMed: Terron-Kwiatkowski 2006 - - Germline yes - - - - DNA SEQ - - EPPK - - Family J - - Netherlands - - - - - 1 Michel van Geel
+/. 2 c.698C>T r.(?) p.(Ser233Leu) Parent #1 - pathogenic g.53072434G>A g.52678650G>A - - KRT1_000046 - PubMed: Grimberg 2009 - - Germline yes - - - - DNA SEQ - - NEPPK - - Family 1 - - - - - - - - 1 Michel van Geel
+/. 2 c.698C>T r.(?) p.(Ser233Leu) Parent #1 - pathogenic g.53072434G>A g.52678650G>A - - KRT1_000046 - PubMed: Grimberg 2009 - - Germline yes - - - - DNA SEQ - - NEPPK - - Family 3 - - - - - - - - 1 Michel van Geel
-/. 2 c.720G>A r.(?) p.(=) Unknown - benign g.53072412C>T g.52678628C>T - - KRT1_000043 - PubMed: Richardson 2006 - - Unknown ? - - - - DNA SEQ - - Healthy/Control - - - - - - - - - - - 1 Michel van Geel
?/. - c.761C>T r.(?) p.(Ser254Leu) Unknown - VUS g.53072371G>A - KRT1(NM_006121.4):c.761C>T (p.S254L) - KRT1_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 2 c.800G>A r.(?) p.(Arg267Gln) Unknown - benign g.53072332C>T g.52678548C>T - - KRT1_000047 - PubMed: Terron-Kwiatkowski 2006 - - Unknown ? - - - - DNA SEQ - - Healthy/Control - - - - - - - - - - - 1 Michel van Geel
?/. - c.800G>A r.(?) p.(Arg267Gln) Unknown - VUS g.53072332C>T - KRT1(NM_006121.3):c.800G>A (p.(Arg267Gln)) - KRT1_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.956A>G r.(?) p.(Tyr319Cys) Unknown - VUS g.53071441T>C - KRT1(NM_006121.4):c.956A>G (p.Y319C) - KRT1_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1018G>T r.(?) p.(Asp340Tyr) Unknown - likely pathogenic g.53071210C>A - - - KRT1_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 5 c.1019A>G r.(?) p.(Asp340Gly) Parent #1 - pathogenic g.53071209T>C g.52677425T>C - - KRT1_000054 - PubMed: Bolling 2010 - - Germline yes - - - - DNA SEQ - - CIEHK - - Family 1 related to family 2, 8 affected - - Netherlands - - - - - 8 Michel van Geel
+/. 5 c.1019A>G r.(?) p.(Asp340Gly) Parent #1 - pathogenic g.53071209T>C g.52677425T>C - - KRT1_000054 - PubMed: Bolling 2010 - - Germline yes - - - - DNA SEQ - - CIEHK - - Family 2 related to family 1, 6 affected - - Netherlands - - - - - 6 Johan den Dunnen
+/. 5 c.1019A>G r.(?) p.(Asp340Gly) Parent #1 - pathogenic g.53071209T>C g.52677425T>C - - KRT1_000054 - PubMed: Bolling 2010 - - Germline yes - - - - DNA SEQ - - CIEHK - - Family 3, 9 affected - - Netherlands - - - - - 9 Johan den Dunnen
+/. - c.1019A>G r.(?) p.(Asp340Gly) Unknown - pathogenic g.53071209T>C g.52677425T>C KRT1(NM_006121.4):c.1019A>G (p.D340G) - KRT1_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1019A>G r.(?) p.(Asp340Gly) Unknown - pathogenic g.53071209T>C - KRT1(NM_006121.4):c.1019A>G (p.D340G) - KRT1_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 5 c.1019A>T r.(?) p.(Asp340Val) Parent #1 - pathogenic g.53071209T>A g.52677425T>A - - KRT1_000010 Not found in 50 controls PubMed: Kremer 1998 - - Germline yes - - - - DNA SEQ - - CIEHK - - - - - Netherlands - 1y - - - 1 Michel van Geel
+/. - c.1019A>T r.(?) p.(Asp340Val) Unknown - pathogenic g.53071209T>A g.52677425T>A KRT1(NM_006121.4):c.1019A>T (p.D340V) - KRT1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1028G>A r.(?) p.(Arg343His) Unknown - VUS g.53071200C>T - KRT1(NM_006121.4):c.1028G>A (p.R343H) - KRT1_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 5 c.1072A>T r.(?) p.(Asn358Tyr) Unknown - benign g.53071156T>A g.52677372T>A - - KRT1_000044 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Terron-Kwiatkowski 2006 - - Unknown ? - - - - DNA SEQ - - Healthy/Control - - - - - - - - - - - 1 Michel van Geel
+/. 5i_6i c.1129-30_1254+286delins214 r.1129_1254del p.(Tyr377_Gln418del) Unknown - pathogenic g.53070557_53070998delinsN[214] - - - KRT1_000055 published (abstract): J Invest Dermatol 2000; Vol 155, No 3: 575 (273). Not found in 50 controls. PubMed: Virtanen 2001, PubMed: 14708600 - - Unknown yes 1129-30_1254+286delins214 - - - DNA, RNA RT-PCR, SEQ - - CIEHK - PubMed: Virtanen 2003 - F - Sweden Sweden;Norway - - - - 1 Michel van Geel
+/. 6i c.1254+1G>A r.1254+1_1254+54ins p.(Gln418_Ile419ins18) Parent #1 - pathogenic g.53070842C>T g.52677058C>T G4134A - KRT1_000017 Full nomenclature: p.Q418_I419insICFSFYHSAVWNGGNPQNot found in 50 controls PubMed: Hatsell 2001 - - Germline yes - - - - DNA, RNA RT-PCR, SEQ - - EPPK - - Three Scottish pedigrees with same ancestryID: Filamin-11402, Filamin-11403, Filamin-09938 - - United Kingdom (Great Britain) - 1y - - - 1 Michel van Geel
-?/. - c.1254+7G>T r.(=) p.(=) Unknown - likely benign g.53070836C>A g.52677052C>A KRT1(NM_006121.4):c.1254+7G>T - KRT1_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 14 c.1255-4del r.spl? p.? Unknown - pathogenic (dominant) g.53070283del - - - KRT1_000090 - - - - Germline - - - - - DNA SEQ Blood - CCM1 CCM1 - - M ? Italy - - - - - 1 Carmela Fusco
+/. 6i c.1255-1G>C r.spl p.? Unknown - pathogenic (dominant) g.53070280C>G g.52676496C>G - - KRT1_000075 not in 100 healthy controls PubMed: Tang 2018 - - Germline yes - - - - DNA SEQ - - NEPPK 30452289-Fam PubMed: Tang 2018 4-generation family, 13 affected (9F, 4M) F;M no China - - - - - 13 Johan den Dunnen
+/. 7 c.1310T>C r.(?) p.(Leu437Pro) Parent #1 - pathogenic g.53070224A>G g.52676440A>G - - KRT1_000053 - PubMed: Liu 2009 - - Germline yes - - - - DNA SEQ - - NEPPK - - - - - China - - - - - 1 Michel van Geel
-?/. - c.1360G>T r.(?) p.(Ala454Ser) Parent #1 - likely benign g.53070174C>A g.52676390C>A - - KRT1_000078 29 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs17678945 Germline - 29/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 29 Mohammed Faruq
+/. 7 c.1376_1399del r.(?) p.(Ala459_Gln466del) Unknown - pathogenic g.53070137_53070160del g.52676353_52676376del 1376del24 - KRT1_000028 - PubMed: Terron-Kwiatkowski 2002 - - Unknown yes - - - - DNA SEQ - - ? - - - - - - - - - - - 1 Michel van Geel
?/. - c.1379G>C r.(?) p.(Arg460Pro) Unknown - VUS g.53070155C>G - KRT1(NM_006121.4):c.1379G>C (p.R460P) - KRT1_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 7 c.1389C>T r.(?) p.(=) Unknown - benign g.53070145G>A g.52676361G>A - - KRT1_000038 - PubMed: Richardson 2006 - - Unknown ? - - - - DNA SEQ - - Healthy/Control - - - - - - - - - - - 1 Michel van Geel
-/. - c.1389C>T r.(?) p.(Arg463=) Unknown - benign g.53070145G>A g.52676361G>A KRT1(NM_006121.4):c.1389C>T (p.R463=) - KRT1_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1397A>G r.(?) p.(Gln466Arg) Unknown - VUS g.53070137T>C g.52676353T>C KRT1(NM_006121.3):c.1397A>G (p.Q466R) - KRT1_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1413= r.(=) p.(Thr471=) Unknown - benign g.53070121T>G g.52676337T>G KRT1(NM_006121.4):c.1413A>C (p.T471=) - KRT1_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 7 c.1413C>A r.(?) p.(=) Unknown - benign g.53070121G>T g.52676337G>T - - KRT1_000039 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Richardson 2006 - - Unknown ? - - - - DNA SEQ - - Healthy/Control - - - - - - - - - - - 1 Michel van Geel
+/. 7 c.1432G>A r.(?) p.(Glu478Lys) Unknown - pathogenic g.53070102C>T g.52676318C>T - - KRT1_000027 - PubMed: Sun 2002 - - De novo - - - - - DNA SEQ - - CIEHK - - - F - China - - - - - 1 Michel van Geel
+/. 7 c.1432G>C r.(?) p.(Glu478Gln) Unknown - pathogenic g.53070102C>G g.52676318C>G - - KRT1_000056 - PubMed: Arin 2011 - - De novo - - - - - DNA SEQ - - CIEHK - - patient 3 - - Germany - - - - - 1 Johan den Dunnen
+/. 7 c.1434G>T r.(?) p.(Glu478Asp) Parent #1 - pathogenic g.53070100C>A g.52676316C>A - - KRT1_000013 Not found in 50 controls PubMed: Yang 1999 - - Germline yes - - - - DNA SEQ - - CIEHK - - - - - - - 1y - - - 1 Michel van Geel
+/. 7 c.1434G>T r.(?) p.(Glu478Asp) Parent #1 - pathogenic g.53070100C>A g.52676316C>A - - KRT1_000013 - PubMed: Tsubota 2008 - - Germline yes - - - - DNA SEQ - - CIEHK - - - - - Japan - - - - - 1 Michel van Geel
+/. 7 c.1434G>T r.(?) p.(Glu478Asp) Paternal (inferred) - pathogenic g.53070100C>A g.52676316C>A - - KRT1_000013 - PubMed: Sung 2013 - - Germline yes - - - - DNA SEQ - - CIEHK - - family, 3 affected M - (Korea, South (Republic)) - - - - - 3 Johan den Dunnen
+/. 7 c.1435A>T r.(?) p.(Ile479Phe) Parent #1 - pathogenic g.53070099T>A g.52676315T>A - - KRT1_000011 Not found in 46 controls PubMed: Sybert 1999 - - Germline yes - - - - DNA SEQ - - CIEHK - - - - - - - 1y - - - 1 Michel van Geel
+/. 7 c.1435A>T r.(?) p.(Ile479Phe) Parent #1 - pathogenic g.53070099T>A g.52676315T>A - - KRT1_000011 - PubMed: Michael 1999 - - Germline yes - - - - DNA SEQ - - CIEHK - - - - - - - 1y - - - 1 Michel van Geel
+/. 7 c.1436T>C r.(?) p.(Ile479Thr) Parent #1 - pathogenic g.53070098A>G g.52676314A>G - - KRT1_000012 Not found in 50 controls PubMed: Sybert 1999 - - Germline yes - - - - DNA SEQ - - CIEHK - - - - - - - 1y - - - 1 Michel van Geel
+/. 7 c.1436T>C r.(?) p.(Ile479Thr) Parent #1 - pathogenic g.53070098A>G g.52676314A>G - - KRT1_000012 Not found in 50 controls PubMed: Arin 2000 - - Germline yes - - - - DNA SEQ - - CIEHK - - - - - - - 1y - - - 1 Michel van Geel
+/. 7 c.1436T>C r.(?) p.(Ile479Thr) Parent #1 - pathogenic g.53070098A>G g.52676314A>G - - KRT1_000012 - PubMed: Terron-Kwiatkowski 2004 - - Germline yes - - - - DNA SEQ - - ? - - Family A, 7 affected - - - - - - - - 7 Michel van Geel
+/. 7 c.1436T>C r.(?) p.(Ile479Thr) Paternal (confirmed) - pathogenic g.53070098A>G g.52676314A>G - - KRT1_000012 - PubMed: Terron-Kwiatkowski 2004 - - Germline yes - - - - DNA SEQ - - ? - - Family B - - - - - - - - 2 Johan den Dunnen
+/. 7 c.1436T>C r.(?) p.(Ile479Thr) Unknown - pathogenic g.53070098A>G g.52676314A>G - - KRT1_000012 - PubMed: Arin 2011 - - De novo - - - - - DNA SEQ - - CIEHK - - - - - Germany - - - - - 1 Johan den Dunnen
+/. 7 c.1436T>C r.(?) p.(Ile479Thr) Parent #1 - pathogenic g.53070098A>G g.52676314A>G - - KRT1_000012 - PubMed: Arin 2011 - - Germline yes - - - - DNA SEQ - - CIEHK - - family 5 - - Germany - - - - - 1 Johan den Dunnen
+/. 7 c.1436T>C r.(?) p.(Ile479Thr) Parent #1 - pathogenic g.53070098A>G g.52676314A>G - - KRT1_000012 - PubMed: Arin 2011 - - Germline yes - - - - DNA SEQ - - CIEHK - - family 6 - - Germany - - - - - 1 Johan den Dunnen
+/. 7 c.1436T>C r.(?) p.(Ile479Thr) Parent #1 - pathogenic g.53070098A>G g.52676314A>G - - KRT1_000012 - PubMed: Zeng 2012 - - Germline yes - - - - DNA SEQ - - CIEHK - - - M - China - - - - - 1 Johan den Dunnen
+/. 7 c.1441A>C r.(?) p.(Thr481Pro) Unknown - pathogenic g.53070093T>G g.52676309T>G - - KRT1_000036 - PubMed: Muramatsu 2005 - - De novo - - - - - DNA SEQ - - CIEHK - - - M - Japan - - - - - 1 Michel van Geel
+/. 7 c.1445A>G r.(?) p.(Tyr482Cys) Unknown - pathogenic g.53070089T>C g.52676305T>C - - KRT1_000007 Not found in 95 controls PubMed: Syder 1994, OMIM:var0003 - - Unknown ? - - - - DNA SEQ - - CIEHK - - - - - - - 1y - - - 1 Michel van Geel
+/. 7 c.1454T>C r.(?) p.(Leu485Pro) Unknown - pathogenic g.53070080A>G g.52676296A>G - - KRT1_000057 - PubMed: Arin 2011 - - De novo - - - - - DNA SEQ - - CIEHK - - family 7 - - Germany - - - - - 1 Johan den Dunnen
+/. 7 c.1457T>C r.(?) p.(Leu486Pro) Unknown - pathogenic g.53070077A>G g.52676293A>G - - KRT1_000030 Not found in 50 controls PubMed: Lee 2002 - - De novo - - - - - DNA SEQ - - CIEHK - - - - - - - - - - - 1 Michel van Geel
+/. 7 c.1457T>C r.(?) p.(Leu486Pro) Unknown - pathogenic g.53070077A>G g.52676293A>G - - KRT1_000058 - PubMed: Arin 2011 - - De novo - - - - - DNA SEQ - - CIEHK - - patient 8 - - Portugal - - - - - 1 Johan den Dunnen
+/. 7 c.1457T>G r.(?) p.(Leu486Arg) Unknown - pathogenic g.53070077A>C g.52676293A>C - - KRT1_000061 Not in 50 healthy controls PubMed: Osawa 2011 - - De novo - - - - - DNA SEQ - - CIEHK - - - M - Japan - - - - - 1 Johan den Dunnen
+/. 7 c.1465G>A r.(?) p.(Glu489Lys) Paternal (confirmed) - pathogenic g.53070069C>T g.52676285C>T - - KRT1_000050 - PubMed: Chassaing 2006 - - De novo - - - - - DNA SEQ - - Burkitt lymphoma - - Family 2 - - - - 18d - - - 1 Michel van Geel
+/. 7 c.1468G>A r.(?) p.(Glu490Lys) Unknown - pathogenic g.53070066C>T g.52676282C>T - - KRT1_000059 - PubMed: Arin 2011 - - De novo - - - - - DNA SEQ - - CIEHK - - patient 9 - - Lebanon - - - - - 1 Johan den Dunnen
+/. 7 c.1468G>C r.(?) p.(Glu490Gln) Parent #1 - pathogenic g.53070066C>G g.52676282C>G - - KRT1_000001 - PubMed: Rothnagel 1992, OMIM:var0001 - - Germline yes - - - - DNA SEQ - - CIEHK - - - - - - - - - - - 1 Michel van Geel
+/. 7 c.1469A>G r.(?) p.(Glu490Gly) Parent #1 - pathogenic g.53070065T>C g.52676281T>C - - KRT1_000048 - PubMed: Shimomura 2006 - - De novo - - - - - DNA SEQ - - CIEHK - - - M - Japan - - - - - 1 Michel van Geel
?/. - c.1480T>G r.(?) p.(Ser494Ala) Unknown - VUS g.53069524A>C g.52675740A>C KRT1(NM_006121.4):c.1480T>G (p.S494A) - KRT1_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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