Full data view for gene KRT9

Information The variants shown are described using the NM_000226.3 transcript reference sequence.

90 entries on 1 page. Showing entries 1 - 90.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Allele     

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/Death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-?/. - c.51T>G likely benign r.(?) p.(=) Unknown g.39728194A>C - KRT9(NM_000226.3):c.51T>G (p.G17=) - KRT9_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.195C>T benign r.(?) p.(=) Unknown g.39728050G>A - KRT9(NM_000226.3):c.195C>T (p.G65=) - KRT9_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. 1 c.216C>T - r.(?) p.(=) Parent #1 g.39728029G>A g.41571777G>A - - KRT9_000023 - PubMed: Chiu 2007 - - Unknown ? - - 0 - DNA SEQ - - Healthy/Control - - - - - - - - 0 - - 1 Michel van Geel
-?/. - c.245G>A likely benign r.(?) p.(Ser82Asn) Unknown g.39728000C>T - KRT9(NM_000226.3):c.245G>A (p.S82N) - KRT9_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.347G>T likely benign r.(?) p.(Gly116Val) Unknown g.39727898C>A - KRT9(NM_000226.3):c.347G>T (p.G116V) - KRT9_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.351T>C benign r.(?) p.(=) Unknown g.39727894A>G - KRT9(NM_000226.3):c.351T>C (p.G117=) - KRT9_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. 1 c.426A>C - r.(?) p.(=) Parent #1 g.39727819T>G g.41571567T>G - - KRT9_000013 - PubMed: Rugg 2002 - - Unknown ? - - 0 - DNA SEQ - - Healthy/Control - - - - - - - - 0 - - 1 Michel van Geel
-/. 1 c.429A>C - r.(?) p.(=) Parent #1 g.39727816T>G g.41571564T>G - - KRT9_000024 - PubMed: Chiu 2007 - - Unknown ? - - 0 - DNA SEQ - - Healthy/Control - - - - - - - - 0 - - 1 Michel van Geel
-/. - c.429A>C benign r.(?) p.(=) Unknown g.39727816T>G - KRT9(NM_000226.3):c.429A>C (p.G143=) - KRT9_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.429A>C benign r.(?) p.(=) Unknown g.39727816T>G - KRT9(NM_000226.3):c.429A>C (p.G143=) - KRT9_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.469A>G - r.(?) p.(Met157Val) Parent #1 g.39727776T>C g.41571524T>C - - KRT9_000005 - PubMed: Hennies 1994 - rs58597584 Unknown ? - - 0 - DNA SEQ - - EPPK - - - - - - - - 0 - - 1 Michel van Geel
+/. 1 c.469A>G - r.(?) p.(Met157Val) Parent #1 g.39727776T>C g.41571524T>C - - KRT9_000005 - PubMed: Hennies 1994 - rs58597584 Unknown ? - - 0 - DNA SEQ - - EPPK - - - - - - - - 0 - - 1 Michel van Geel
+/. 1 c.469A>G - r.(?) p.(Met157Val) Parent #1 g.39727776T>C g.41571524T>C - - KRT9_000005 - PubMed: Covello 1998 - rs58597584 Unknown ? - - 0 - DNA SEQ - - EPPK - - - - - - - - 0 - - 1 Michel van Geel
+/. 1 c.469A>G - r.(?) p.(Met157Val) Parent #1 g.39727776T>C g.41571524T>C - - KRT9_000005 - PubMed: Covello 1998 - rs58597584 Unknown ? - - 0 - DNA SEQ - - EPPK - - - - - - - - 0 - - 1 Michel van Geel
+/. 1 c.469A>G - r.(?) p.(Met157Val) Parent #1 g.39727776T>C g.41571524T>C - - KRT9_000005 - PubMed: Rugg 2002 - rs58597584 Unknown ? - - 0 - DNA SEQ - - EPPK - - - - - - - - 0 - - 1 Michel van Geel
+/. 1 c.470T>A - r.(?) p.(Met157Lys) Parent #1 g.39727775A>T g.41571523A>T - - KRT9_000027 - PubMed: Shimomura 2010 - - Unknown ? - - 0 - DNA SEQ - - EPPK - - - - - - - - 0 - - 1 Michel van Geel
+/. 1 c.470T>C - r.(?) p.(Met157Thr) Parent #1 g.39727775A>G g.41571523A>G - - KRT9_000010 - PubMed: Covello 1998 - rs59510579 Unknown ? - - 0 - DNA SEQ - - EPPK - - - - - - - - 0 - - 1 Michel van Geel
+/. 1 c.470T>C - r.(?) p.(Met157Thr) Parent #1 g.39727775A>G g.41571523A>G - - KRT9_000010 - PubMed: Chen 2009 - rs59510579 Unknown ? - - 0 - DNA SEQ - - EPPK - - - - - - - - 0 - - 1 Michel van Geel
+/. 1 c.470T>C - r.(?) p.(Met157Thr) Parent #1 g.39727775A>G g.41571523A>G - - KRT9_000010 - PubMed: Shimomura 2010 - rs59510579 Unknown ? - - 0 - DNA SEQ - - EPPK - - - - - - - - 0 - - 1 Michel van Geel
+/. 1 c.470T>C - r.(?) p.(Met157Thr) Parent #1 g.39727775A>G g.41571523A>G - - KRT9_000010 - PubMed: Shimomura 2010 - rs59510579 Unknown ? - - 0 - DNA SEQ - - EPPK - - - - - - - - 0 - - 1 Michel van Geel
+/. 1 c.470T>G - r.(?) p.(Met157Arg) Parent #1 g.39727775A>C g.41571523A>C - - KRT9_000022 - PubMed: Shimazu 2006 - - Unknown ? - - 0 - DNA SEQ - - EPPK - - - - - - - - 0 - - 1 Michel van Geel
+/. 1 c.470T>G - r.(?) p.(Met157Arg) Parent #1 g.39727775A>C g.41571523A>C - - KRT9_000022 - PubMed: Zhao 2008 - - Unknown ? - - 0 - DNA SEQ - - EPPK - - - - - - - - 0 - - 1 Michel van Geel
+/. 1 c.478C>G - r.(?) p.(Leu160Val) Parent #1 g.39727767G>C g.41571515G>C - - KRT9_000009 - PubMed: Endo 1997 - rs28940896 Unknown ? - - 0 - DNA SEQ - - EPPK - - - - - - - - 0 - - 1 Michel van Geel
+/. 1 c.478C>T - r.(?) p.(Leu160Phe) Parent #1 g.39727767G>A g.41571515G>A - - KRT9_000016 - PubMed: Lu 2003 - rs28940896 Unknown ? - - 0 - DNA SEQ - - EPPK - - - - - - - - 0 - - 1 Michel van Geel
+/. 1 c.481A>C - r.(?) p.(Asn161His) Parent #1 g.39727764T>G g.41571512T>G - - KRT9_000017 - PubMed: Lee 2003 - - Unknown ? - - 0 - DNA SEQ - - EPPK - - - - - - - - 0 - - 1 Michel van Geel
+/. 1 c.481A>C - r.(?) p.(Asn161His) Parent #1 g.39727764T>G g.41571512T>G - - KRT9_000017 - PubMed: Lin 2004 - - Unknown ? - - 0 - DNA SEQ - - EPPK - - - - - - - - 0 - - 1 Michel van Geel
+/. 1 c.481A>T - r.(?) p.(Asn161Tyr) Parent #1 g.39727764T>A g.41571512T>A N160Y - KRT9_000001 - PubMed: Torchard 1994, OMIM:var0003 - rs59296273 Unknown ? - - 0 - DNA SEQ - - EPPK - - - - - - - - 0 - - 1 Michel van Geel
+/. 1 c.482A>G - r.(?) p.(Asn161Ser) Parent #1 g.39727763T>C g.41571511T>C - - KRT9_000007 - PubMed: Bonifas 1994 - rs56707768 Unknown ? - - 0 - DNA SEQ - - EPPK - - - - - - - - 0 - - 1 Michel van Geel
+/. 1 c.482A>G - r.(?) p.(Asn161Ser) Parent #1 g.39727763T>C g.41571511T>C - - KRT9_000007 - PubMed: Amichai 2002 - rs56707768 Unknown ? - - 0 - DNA SEQ - - EPPK - - - - - - - - 0 - - 1 Michel van Geel
+/. 1 c.482A>G - r.(?) p.(Asn161Ser) Parent #1 g.39727763T>C g.41571511T>C - - KRT9_000007 - PubMed: Tsunemi 2002 - rs56707768 Unknown ? - - 0 - DNA SEQ - - EPPK - - - - - - - - 0 - - 1 Michel van Geel
+/. 1 c.482A>G - r.(?) p.(Asn161Ser) Parent #1 g.39727763T>C g.41571511T>C - - KRT9_000007 - PubMed: Lee 2003 - rs56707768 Unknown ? - - 0 - DNA SEQ - - EPPK - - - - - - - - 0 - - 1 Michel van Geel
+/. 1 c.482A>G - r.(?) p.(Asn161Ser) Parent #1 g.39727763T>C g.41571511T>C - - KRT9_000007 - PubMed: Zhang 2004 - rs56707768 Unknown ? - - 0 - DNA SEQ - - EPPK - - - - - - - - 0 - - 1 Michel van Geel
+/. 1 c.482A>G - r.(?) p.(Asn161Ser) Parent #1 g.39727763T>C g.41571511T>C - - KRT9_000007 - PubMed: Hamada 2005 - rs56707768 Unknown ? - - 0 - DNA SEQ - - EPPK - - - - - - - - 0 - - 1 Michel van Geel
+/. 1 c.482A>G - r.(?) p.(Asn161Ser) Parent #1 g.39727763T>C g.41571511T>C - - KRT9_000007 - PubMed: Yin 2007 - rs56707768 Unknown ? - - 0 - DNA SEQ - - EPPK - - - - - - - - 0 - - 1 Michel van Geel
+/. 1 c.482A>T - r.(?) p.(Asn161Ile) Parent #1 g.39727763T>A g.41571511T>A - - KRT9_000015 - PubMed: K¸ster 2002 - - Unknown ? - - 0 - DNA SEQ - - EPPK - - - - - - - - 0 - - 1 Michel van Geel
+/. 1 c.482A>T - r.(?) p.(Asn161Ile) Parent #1 g.39727763T>A g.41571511T>A - - KRT9_000015 - PubMed: CsikÛs 2003 - - Unknown ? - - 0 - DNA SEQ - - EPPK - - - - - - - - 0 - - 1 Michel van Geel
+/. 1 c.483T>A - r.(?) p.(Asn161Lys) Parent #1 g.39727762A>T g.41571510A>T N161K - KRT9_000002 - PubMed: Reis 1994, OMIM:var0004 - rs57536312 Unknown ? - - 0 - DNA SEQ - - EPPK - - - - - - - - 0 - - 1 Michel van Geel
+/. 1 c.484C>T - r.(?) p.(Pro162Ser) Parent #1 g.39727761G>A g.41571509G>A - - KRT9_000025 - PubMed: Li 2008 - - Unknown ? - - 0 - DNA SEQ - - EPPK - - - - - - - - 0 - - 1 Michel van Geel
+/. 1 c.487C>T - r.(?) p.(Arg163Trp) Parent #1 g.39727758G>A g.41571506G>A R162W - KRT9_000003 - PubMed: Reis 1994, OMIM:var0001 - rs59616921 Unknown ? - - 0 - DNA SEQ - - EPPK - - - - - - - - 0 - - 1 Michel van Geel
+/. 1 c.487C>T - r.(?) p.(Arg163Trp) Parent #1 g.39727758G>A g.41571506G>A R162W - KRT9_000003 - PubMed: Reis 1994, OMIM:var0001 - rs59616921 Unknown ? - - 0 - DNA SEQ - - EPPK - - - - - - - - 0 - - 1 Michel van Geel
+/. 1 c.487C>T - r.(?) p.(Arg163Trp) Parent #1 g.39727758G>A g.41571506G>A R162W - KRT9_000003 - PubMed: Reis 1994, OMIM:var0001 - rs59616921 Unknown ? - - 0 - DNA SEQ - - EPPK - - - - - - - - 0 - - 1 Michel van Geel
+/. 1 c.487C>T - r.(?) p.(Arg163Trp) Parent #1 g.39727758G>A g.41571506G>A R162W - KRT9_000003 - PubMed: Bonifas 1994, OMIM:var0001 - rs59616921 Unknown ? - - 0 - DNA SEQ - - EPPK - - - - - - - - 0 - - 1 Michel van Geel
+/. 1 c.487C>T - r.(?) p.(Arg163Trp) Parent #1 g.39727758G>A g.41571506G>A - - KRT9_000003 - PubMed: Navsaria 1995 - rs59616921 Unknown ? - - 0 - DNA SEQ - - EPPK - - - - - - - - 0 - - 1 Michel van Geel
+/. 1 c.487C>T - r.(?) p.(Arg163Trp) Parent #1 g.39727758G>A g.41571506G>A - - KRT9_000003 - PubMed: Navsaria 1995 - rs59616921 Unknown ? - - 0 - DNA SEQ - - EPPK - - - - - - - - 0 - - 1 Michel van Geel
+/. 1 c.487C>T - r.(?) p.(Arg163Trp) Parent #1 g.39727758G>A g.41571506G>A - - KRT9_000003 - PubMed: Rothnagel 1995 - rs59616921 Unknown ? - - 0 - DNA SEQ - - EPPK - - - - - - - - 0 - - 1 Michel van Geel
+/. 1 c.487C>T - r.(?) p.(Arg163Trp) Parent #1 g.39727758G>A g.41571506G>A - - KRT9_000003 - PubMed: Yang 1998 - rs59616921 Unknown ? - - 0 - DNA SEQ - - EPPK - - - - - - - - 0 - - 1 Michel van Geel
+/. 1 c.487C>T - r.(?) p.(Arg163Trp) Parent #1 g.39727758G>A g.41571506G>A - - KRT9_000003 - PubMed: Mayuzumi 1999 - rs59616921 Unknown ? - - 0 - DNA SEQ - - EPPK - - - - - - - - 0 - - 1 Michel van Geel
+/. 1 c.487C>T - r.(?) p.(Arg163Trp) Parent #1 g.39727758G>A g.41571506G>A - - KRT9_000003 - PubMed: Morgan 1999 - rs59616921 Unknown ? - - 0 - DNA SEQ - - EPPK - - - - - - - - 0 - - 1 Michel van Geel
+/. 1 c.487C>T - r.(?) p.(Arg163Trp) Parent #1 g.39727758G>A g.41571506G>A - - KRT9_000003 - PubMed: Warmuth 2000 - rs59616921 Unknown ? - - 0 - DNA SEQ - - EPPK - - - - - - - - 0 - - 1 Michel van Geel
+/. 1 c.487C>T - r.(?) p.(Arg163Trp) Parent #1 g.39727758G>A g.41571506G>A - - KRT9_000003 - PubMed: Rugg 2002 - rs59616921 Unknown ? - - 0 - DNA SEQ - - EPPK - - - - - - - - 0 - - 1 Michel van Geel
+/. 1 c.487C>T - r.(?) p.(Arg163Trp) Parent #1 g.39727758G>A g.41571506G>A - - KRT9_000003 - PubMed: Yang 2003 - rs59616921 Unknown ? - - 0 - DNA SEQ - - EPPK - - - - - - - - 0 - - 1 Michel van Geel
+/. 1 c.487C>T - r.(?) p.(Arg163Trp) Parent #1 g.39727758G>A g.41571506G>A - - KRT9_000003 - PubMed: Lee 2003 - rs59616921 Unknown ? - - 0 - DNA SEQ - - EPPK - - - - - - - - 0 - - 1 Michel van Geel
+/. 1 c.487C>T - r.(?) p.(Arg163Trp) Parent #1 g.39727758G>A g.41571506G>A - - KRT9_000003 - PubMed: Lee 2003 - rs59616921 Unknown ? - - 0 - DNA SEQ - - EPPK - - - - - - - - 0 - - 1 Michel van Geel
+/. 1 c.487C>T - r.(?) p.(Arg163Trp) Parent #1 g.39727758G>A g.41571506G>A - - KRT9_000003 - PubMed: Lee 2003 - rs59616921 Unknown ? - - 0 - DNA SEQ - - EPPK - - - - - - - - 0 - - 1 Michel van Geel
+/. 1 c.487C>T - r.(?) p.(Arg163Trp) Parent #1 g.39727758G>A g.41571506G>A - - KRT9_000003 - PubMed: Terrinoni 2004 - rs59616921 Unknown ? - - 0 - DNA SEQ - - EPPK - - - - - - - - 0 - - 1 Michel van Geel
+/. 1 c.487C>T - r.(?) p.(Arg163Trp) Parent #1 g.39727758G>A g.41571506G>A - - KRT9_000003 - PubMed: Terrinoni 2004 - rs59616921 Unknown ? - - 0 - DNA SEQ - - EPPK - - - - - - - - 0 - - 1 Michel van Geel
+/. 1 c.487C>T - r.(?) p.(Arg163Trp) Parent #1 g.39727758G>A g.41571506G>A - - KRT9_000003 - PubMed: Terrinoni 2004 - rs59616921 Unknown ? - - 0 - DNA SEQ - - EPPK - - - - - - - - 0 - - 1 Michel van Geel
+/. 1 c.487C>T - r.(?) p.(Arg163Trp) Parent #1 g.39727758G>A g.41571506G>A - - KRT9_000003 - PubMed: Chiu 2007, OMIM:var0001 - rs59616921 Unknown ? - - 0 - DNA SEQ - - EPPK - - - - - - - - 0 - - 1 Michel van Geel
+/. 1 c.487C>T - r.(?) p.(Arg163Trp) Parent #1 g.39727758G>A g.41571506G>A - - KRT9_000003 - PubMed: Codispoti 2009, OMIM:var0001 - rs59616921 Unknown ? - - 0 - DNA SEQ - - EPPK - - - - - - - - 0 - - 1 Michel van Geel
+/. 1 c.487C>T - r.(?) p.(Arg163Trp) Parent #1 g.39727758G>A g.41571506G>A - - KRT9_000003 - PubMed: Funakushi 2009 - rs59616921 Unknown ? - - 0 - DNA SEQ - - EPPK - - - - - - - - 0 - - 1 Michel van Geel
+/. - c.487C>T pathogenic r.(?) p.(Arg163Trp) Unknown g.39727758G>A - KRT9(NM_000226.3):c.487C>T (p.R163W) - KRT9_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.488G>A - r.(?) p.(Arg163Gln) Parent #1 g.39727757C>T g.41571505C>T R162Q - KRT9_000004 - PubMed: Reis 1994, OMIM:var0005 - rs57758262 Unknown ? - - 0 - DNA SEQ - - EPPK - - - - - - - - 0 - - 1 Michel van Geel
+/. 1 c.488G>A - r.(?) p.(Arg163Gln) Parent #1 g.39727757C>T g.41571505C>T - - KRT9_000004 - PubMed: Kobayashi 1996 - rs57758262 Unknown ? - - 0 - DNA SEQ - - EPPK - - - - - - - - 0 - - 1 Michel van Geel
+/. 1 c.488G>A - r.(?) p.(Arg163Gln) Parent #1 g.39727757C>T g.41571505C>T - - KRT9_000004 - PubMed: Yang 1998 - rs57758262 Unknown ? - - 0 - DNA SEQ - - EPPK - - - - - - - - 0 - - 1 Michel van Geel
+/. 1 c.488G>A - r.(?) p.(Arg163Gln) Parent #1 g.39727757C>T g.41571505C>T - - KRT9_000004 - PubMed: Covello 1998 - rs57758262 Unknown ? - - 0 - DNA SEQ - - EPPK - - - - - - - - 0 - - 1 Michel van Geel
+/. 1 c.488G>A - r.(?) p.(Arg163Gln) Parent #1 g.39727757C>T g.41571505C>T - - KRT9_000004 - PubMed: Szalai 1999 - rs57758262 Unknown ? - - 0 - DNA SEQ - - EPPK - - - - - - - - 0 - - 1 Michel van Geel
+/. 1 c.488G>A - r.(?) p.(Arg163Gln) Parent #1 g.39727757C>T g.41571505C>T - - KRT9_000004 - PubMed: Rugg 2002 - rs57758262 Unknown ? - - 0 - DNA SEQ - - EPPK - - - - - - - - 0 - - 1 Michel van Geel
+/. 1 c.488G>A - r.(?) p.(Arg163Gln) Parent #1 g.39727757C>T g.41571505C>T - - KRT9_000004 - PubMed: Wennerstrand 2003 - rs57758262 Unknown ? - - 0 - DNA SEQ - - EPPK - - - - - - - - 0 - - 1 Michel van Geel
+/. 1 c.488G>A - r.(?) p.(Arg163Gln) Parent #1 g.39727757C>T g.41571505C>T - - KRT9_000004 - PubMed: Yang 2003 - rs57758262 Unknown ? - - 0 - DNA SEQ - - EPPK - - - - - - - - 0 - - 1 Michel van Geel
+/. 1 c.488G>A - r.(?) p.(Arg163Gln) Parent #1 g.39727757C>T g.41571505C>T - - KRT9_000004 - PubMed: Sun 2005 - rs57758262 Unknown ? - - 0 - DNA SEQ - - EPPK - - - - - - - - 0 - - 1 Michel van Geel
+/. 1 c.488G>A - r.(?) p.(Arg163Gln) Parent #1 g.39727757C>T g.41571505C>T - - KRT9_000004 - PubMed: Shimomura 2010 - rs57758262 Unknown ? - - 0 - DNA SEQ - - EPPK - - - - - - - - 0 - - 1 Michel van Geel
+/. 1 c.488G>C - r.(?) p.(Arg163Pro) Parent #1 g.39727757C>G g.41571505C>G - - KRT9_000019 - PubMed: Kon 2005 - - Unknown ? - - 0 - DNA SEQ - - EPPK - - - - - - - - 0 - - 1 Michel van Geel
+/. 1 c.500delAinsGGCT - r.(?) p.(Tyr167delinsTrpLeu) Parent #1 g.39727745delinsAGCC g.41571493delinsAGCC - - KRT9_000020 - PubMed: Zhang 2005 - - Unknown ? - - 0 - DNA SEQ - - EPPK - - - - - - - - 0 - - 1 Michel van Geel
+/. 1 c.500delAinsGGCT - r.(?) p.(Tyr167delinsTrpLeu) Parent #1 g.39727745delinsAGCC g.41571493delinsAGCC - - KRT9_000020 - PubMed: Zhang 2005 - - Unknown ? - - 0 - DNA SEQ - - EPPK - - - - - - - - 0 - - 1 Michel van Geel
+/. 1 c.500delAinsGGCT - r.(?) p.(Tyr167delinsTrpLeu) Parent #1 g.39727745delinsAGCC g.41571493delinsAGCC - - KRT9_000020 - PubMed: Zhang 2005 - - Unknown ? - - 0 - DNA SEQ - - EPPK - - - - - - - - 0 - - 1 Michel van Geel
+/. 1 c.500_500delinsGGCT - r.(?) p.(Tyr167delinsTrpLeu) Parent #1 g.39727745delinsAGCC g.41571493delinsAGCC - - KRT9_000018 - PubMed: He 2004 - - Unknown ? - - 0 - DNA SEQ - - EPPK - - - - - - - - 0 - - 1 Michel van Geel
+/. 1 c.503T>C - r.(?) p.(Leu168Ser) Parent #1 g.39727742A>G g.41571490A>G - - KRT9_000008 - PubMed: Rothnagel 1995 - rs61157095 Unknown ? - - 0 - DNA SEQ - - EPPK - - - - - - - - 0 - - 1 Michel van Geel
+/. 1 c.503T>C - r.(?) p.(Leu168Ser) Parent #1 g.39727742A>G g.41571490A>G - - KRT9_000008 - PubMed: Li 2007 - rs61157095 Unknown ? - - 0 - DNA SEQ - - EPPK - - - - - - - - 0 - - 1 Michel van Geel
+/. 1 c.503T>C - r.(?) p.(Leu168Ser) Parent #1 g.39727742A>G g.41571490A>G - - KRT9_000008 - PubMed: Yin 2007 - rs61157095 Unknown ? - - 0 - DNA SEQ - - EPPK - - - - - - - - 0 - - 1 Michel van Geel
+/. 1 c.508A>T - r.(?) p.(Lys170*) Parent #1 g.39727737T>A g.41571485T>A - - KRT9_000012 - PubMed: Szalai 1999 - rs58149344 Unknown ? - - 0 - DNA SEQ - - EPPK - - - - - - - - 0 - - 1 Michel van Geel
-?/. - c.510G>A likely benign r.(?) p.(=) Unknown g.39727735C>T - KRT9(NM_000226.3):c.510G>A (p.K170=) - KRT9_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 1 c.511G>A - r.(?) p.(Val171Met) Parent #1 g.39727734C>T g.41571482C>T - - KRT9_000014 - PubMed: Rugg 2002 - rs57019720 Unknown ? - - 0 - DNA SEQ - - EPPK - - - - - - - - 0 - - 1 Michel van Geel
+/. 1 c.515A>C - r.(?) p.(Gln172Pro) Parent #1 g.39727730T>G g.41571478T>G Q171P - KRT9_000006 - PubMed: Hennies 1994, OMIM:var0002 - rs59878153 Unknown ? - - 0 - DNA SEQ - - EPPK - - - - - - - - 0 - - 1 Michel van Geel
?/. - c.643-5_643-4dup VUS r.spl? p.? Unknown g.39726483_39726484dup - KRT9(NM_000226.3):c.643-4_643-3insTT (p.?) - KRT9_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.726-9G>T benign r.(=) p.(=) Unknown g.39726276C>A - KRT9(NM_000226.3):c.726-9G>T - KRT9_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1216T>C VUS r.(?) p.(Cys406Arg) Unknown g.39724592A>G - KRT9(NM_000226.3):c.1216T>C (p.C406R) - KRT9_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 6 c.1360T>C - r.(?) p.(Tyr454His) Parent #1 g.39724448A>G g.41568196A>G - - KRT9_000026 - PubMed: Shimomura 2010 - - Unknown ? - - 0 - DNA SEQ - - EPPK - - - - - - - - 0 - - 1 Michel van Geel
+/. 6 c.1362_1363dup - r.(?) p.(His455dup) Parent #1 g.39724445_39724446dup g.41568193_41568194dup - - KRT9_000011 - PubMed: Coleman 1999 - - Unknown ? - - 0 - DNA SEQ - - EPPK - - - - - - - - 0 - - 1 Michel van Geel
+/. 6 c.1372C>T - r.(?) p.(Leu458Phe) Parent #1 g.39724436G>A g.41568184G>A - - KRT9_000021 - PubMed: Kon 2006 - - Unknown ? - - 0 - DNA SEQ - - EPPK - - - - - - - - 0 - - 1 Michel van Geel
-/. - c.1407A>T benign r.(?) p.(=) Unknown g.39723990T>A - KRT9(NM_000226.3):c.1407A>T (p.G469=) - KRT9_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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