Full data view for gene TP63

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

155 entries on 2 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

P-domain     

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     
-/- 1 c.-58A>T r.(?) p.(=) - Unknown - benign g.189349247A>T g.189631458A>T - - TP63_000001 - - - rs28673064 Germline - - - - - - - - - - - - - - - - - - - - - - -
+/. _1_4i c.(?_-1)_(579+1_580-1)del r.0? p.0? - Unknown ACMG pathogenic g.(188700996_189349304)_(189526316_189580682)del - - - TP63_000048 - Khandelwal et al., manuscript submitted - - De novo - - - - - DNA arrayCGH blood - CLP II.2 - Khandelwal et al., manuscript submitted F - Denmark - - - - - 1 J.H.L.M. (Hans) van Bokhoven
+/. _1_14_ c.0 r.0 p.0 - Unknown ACMG pathogenic g.(?_189349304)_(189600744_?)del - - - TP63_000058 - Khandelwal et al., manuscript submitted - - Germline yes - - - - DNA arrayCGH blood - CLP IV:3 - Khandelwal et al., manuscript submitted - no Netherlands - - - - - 7 J.H.L.M. (Hans) van Bokhoven
-?/. - c.19C>T r.(?) p.(Arg7Trp) - Unknown - likely benign g.189349323C>T g.189631534C>T - - TP63_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.83A>G r.(?) p.(His28Arg) - Parent #1 - VUS g.189455549A>G g.189737760A>G - - TP63_000059 - PubMed: Sun 2016 - - Germline - - - - - DNA SEQ, SEQ-NG-R blood - BD - PubMed: Sun 2016 3-generation family, affected proband, father and uncle M - (China) - - - - - 3 Arrate Pereda
?/. 2 c.85T>G r.(?) p.(Phe29Val) - Unknown - VUS g.189455551T>G g.189737762T>G - - TP63_000055 - Khandelwal et al., manuscript submitted - rs533808847 Unknown ? 0.000008 - - - DNA SEQ - - Healthy/Control - - Khandelwal et al., manuscript submitted ? ? - - - - - - 1 J.H.L.M. (Hans) van Bokhoven
-/. - c.191+24T>C r.(=) p.(=) - Unknown - benign g.189455681T>C g.189737892T>C TP63(NM_003722.5):c.191+24T>C - TP63_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/- 2i c.191+24T>C r.(?) p.(=) - Unknown - benign g.189455681T>C g.189737892T>C - - TP63_000002 - - - rs34875865 Germline - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.191+24T>C r.(=) p.(=) - Parent #1 - benign g.189455681T>C g.189737892T>C - - TP63_000002 85 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs34875865 Germline - 85/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 85 Mohammed Faruq
-/. - c.191+24T>C r.(=) p.(=) - Both (homozygous) - benign g.189455681T>C g.189737892T>C - - TP63_000002 1 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs34875865 Germline - 1/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
?/. - c.284G>A r.(?) p.(Cys95Tyr) - Unknown - VUS g.189456523G>A - TP63(NM_003722.5):c.284G>A (p.(Cys95Tyr)) - TP63_000127 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.325-18546_325-18543dup r.(=) p.(=) - Unknown - benign g.189507515_189507518dup g.189789726_189789729dup TP63(NM_001114980.2):c.-75_-72dupTCTC - TP63_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.325-18543_325-18542insAG r.(=) p.(=) - Unknown - benign g.189507518_189507519insAG g.189789729_189789730insAG TP63(NM_001114980.2):c.-72_-71insAG - TP63_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.325-18543_325-18542insAG r.(=) p.(=) - Unknown - benign g.189507518_189507519insAG - TP63(NM_001114980.2):c.-72_-71insAG - TP63_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.325-18543_325-18542insAGAG r.(=) p.(=) - Unknown - benign g.189507518_189507519insAGAG - - - TP63_000108 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.325-18441C>T r.(=) p.(=) - Unknown - pathogenic g.189507620C>T g.189789831C>T TP63(NM_001114980.2):c.31C>T (p.Q11*) - TP63_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.325-76C>A r.(=) p.(=) - Unknown - benign g.189525985C>A g.189808196C>A TP63(NM_003722.5):c.325-76C>A - TP63_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/- 3i c.325-34C>T r.(?) p.(=) - Unknown - benign g.189526027C>T g.189808238C>T - - TP63_000003 - - - rs36023188 Germline - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.325-7C>T r.(=) p.(=) - Unknown - VUS g.189526054C>T - TP63(NM_003722.4):c.325-7C>T (p.?) - TP63_000117 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.343G>T r.(?) p.(Gly115Trp) - Unknown - pathogenic g.189526079G>T g.189808290G>T - - TP63_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 4 c.406A>G r.(?) p.(Thr136Ala) - Unknown - VUS g.189526142A>G g.189808353A>G - - TP63_000056 predicted to be tolerated Khandelwal et al., manuscript submitted - - Unknown ? - - - - DNA SEQ - - Healthy/Control - - Khandelwal et al., manuscript submitted ? ? - - - - - - 1 J.H.L.M. (Hans) van Bokhoven
?/. - c.416C>T r.(?) p.(Ala139Val) - Unknown - VUS g.189526152C>T - TP63(NM_001114978.1):c.416C>T (p.(Ala139Val)) - TP63_000112 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.518G>T r.(?) p.(Gly173Val) - Unknown - pathogenic g.189526254G>T g.189808465G>T - - TP63_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 4 c.518G>T r.(?) p.(Gly173Val) - Parent #1 - pathogenic g.189526254G>T g.189808465G>T - - TP63_000033 - PubMed: Monti 2013, Journal: Monti 2013 - - Germline - - - - - DNA SEQ - - ADULT - PubMed: Monti 2013, Journal: Monti 2013 - - - - - - - - - 1 Renata Bocciardi
+/. 4 c.569_576del r.spl? p.(Ala190Aspfs*5) - Paternal (confirmed) ACMG pathogenic g.189526305_189526312del g.189808516_189808523del - - TP63_000049 inherited from healthy father; reduced penetrance Khandelwal et al., manuscript submitted - - Germline - - - - - DNA SEQ - - CLP - - Khandelwal et al., manuscript submitted ? no - - - - - - 1 J.H.L.M. (Hans) van Bokhoven
-/- 4i c.579+39T>A r.(?) p.(=) - Unknown - benign g.189526354T>A g.189808565T>A - - TP63_000004 - - - rs34429985 Germline - - - - - - - - - - - - - - - - - - - - - - -
-/- 4i c.579+92C>T r.(?) p.(=) - Unknown - benign g.189526407C>T g.189808618C>T - - TP63_000005 - - - rs34273202 Germline - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.580-20047del r.(=) p.(=) - Unknown - benign g.189561974del g.189844185del TP63(NM_003722.5):c.580-20047delT - TP63_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 4i c.580-2A>G r.spl p.(Thr193_Tyr194insArg) - Parent #1 - pathogenic g.189582019A>G g.189864230A>G - - TP63_000034 - PubMed: Monti 2013, Journal: Monti 2013 - - Germline - - - - - DNA SEQ - - EEC - PubMed: Monti 2013, Journal: Monti 2013 - - - - - - - - - 1 Renata Bocciardi
+?/. - c.604T>C r.(?) p.(Tyr202His) - Unknown - likely pathogenic g.189582045T>C g.189864256T>C TP63(NM_001329964.2):c.598T>C (p.Y200H) - TP63_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.619A>G r.(?) p.(Lys207Glu) - Unknown - likely pathogenic g.189582060A>G g.189864271A>G - - TP63_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 5 c.670G>A r.(?) p.(Val224Ile) - Paternal (confirmed) - VUS g.189582111G>A g.189864322G>A - - TP63_000046 inherited from healthy father Khandelwal et al., manuscript submitted - rs757669482 Germline ? 0.000008 - - - DNA SEQ - - CLP - - Khandelwal et al., manuscript submitted ? ? - - - - - - 1 J.H.L.M. (Hans) van Bokhoven
-/- 5 c.678C>T r.(?) p.= - Unknown - benign g.189582119C>T g.189864330C>T - - TP63_000006 - - - rs61732782 Germline - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.691T>C r.(?) p.(Tyr231His) - Unknown - likely pathogenic g.189582132T>C g.189864343T>C - - TP63_000103 - - - - Germline/De novo (untested) - - - - - DNA SEQ - - SHFM4 - - - - - - - - - - - 1 Gemeinschaftspraxis für Humangenetik Dresden
+/. - c.692A>G r.(?) p.(Tyr231Cys) - Unknown - pathogenic g.189582133A>G g.189864344A>G - - TP63_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.692A>G r.(?) p.(Tyr231Cys) - Unknown - pathogenic (dominant) g.189582133A>G g.189864344A>G - - TP63_000071 - - - - De novo - - - - - DNA SEQ-NG - - SHFM4 27-II-1 - - M no Japan - - - - - 1 Kaori Yamoto
-?/. - c.699A>G r.(?) p.(Lys233=) - Unknown - likely benign g.189582140A>G - TP63(NM_001329964.1):c.693A>G (p.K231=) - TP63_000109 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.721G>A r.(?) p.(Val241Met) - Unknown - pathogenic g.189582162G>A - - - TP63_000113 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 5 c.725A>G r.(?) p.(Lys242Arg) - Unknown - VUS g.189582166A>G g.189864377A>G - - TP63_000050 - Khandelwal et al., manuscript submitted - rs201617537 Unknown ? - - - - DNA SEQ - - Healthy/Control - - Khandelwal et al., manuscript submitted ? ? - - - - - - 1 J.H.L.M. (Hans) van Bokhoven
+/. - c.727C>T r.(?) p.(Arg243Trp) - Unknown - pathogenic g.189582168C>T g.189864379C>T TP63(NM_001329964.2):c.721C>T (p.R241W) - TP63_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.727C>T r.(?) p.(Arg243Trp) - Unknown - pathogenic g.189582168C>T - TP63(NM_001329964.2):c.721C>T (p.R241W) - TP63_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.728G>A r.(?) p.(Arg243Gln) - Unknown - pathogenic g.189582169G>A g.189864380G>A - - TP63_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.728G>A r.(?) p.(Arg243Gln) - Maternal (confirmed) - pathogenic (!) g.189582169G>A g.189864380G>A - - TP63_000073 dominant, reduced risk - - - Germline - - - - - DNA SEQ-NG - - SHFM4 28-II-1 - - M no Japan - - - - - 1 Kaori Yamoto
+/. - c.739C>T r.(?) p.(His247Tyr) - Unknown - pathogenic (dominant) g.189582180C>T g.189864391C>T NM_003722.4:c.739C>T:(p.His247Tyr) - TP63_000104 - PubMed: Maddirevula 2018 - - De novo - - - - - DNA SEQ, SEQ-NG - WES skeletal dysplasia 17DG0811 PubMed: Maddirevula 2018 isolated case M yes - Arab - - - - 1 LOVD
+?/. - c.740A>C r.(?) p.(His247Pro) - Unknown - likely pathogenic g.189582181A>C g.189864392A>C - - TP63_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/- 5i c.766+34T>G r.(?) p.(=) - Unknown - benign g.189582241T>G g.189864452T>G - - TP63_000007 - - - rs17514215 Germline - - - - - - - - - - - - - - - - - - - - - - -
-/- 5i c.766+42G>A r.(?) p.(=) - Unknown - benign g.189582249G>A g.189864460G>A - - TP63_000008 - - - rs2276792 Germline - - - - - - - - - - - - - - - - - - - - - - -
-/- 5i c.767-35A>G r.(?) p.(=) - Unknown - benign g.189584436A>G g.189866647A>G - - TP63_000009 - - - rs34563218 Germline - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.796C>T r.(?) p.(Arg266*) - Unknown - pathogenic g.189584500C>T - TP63(NM_003722.5):c.796C>T (p.R266*) - TP63_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.797G>A r.(?) p.(Arg266Gln) - Unknown - pathogenic g.189584501G>A - TP63(NM_003722.5):c.797G>A (p.R266Q) - TP63_000106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.797G>A r.(?) p.(Arg266Gln) - Unknown - pathogenic g.189584501G>A - TP63(NM_003722.5):c.797G>A (p.R266Q) - TP63_000106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.799G>A r.(?) p.(Val267Ile) - Unknown - likely benign g.189584503G>A - TP63(NM_001114980.1):c.517G>A (p.(Val173Ile)) - TP63_000118 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.859C>T r.(?) p.(Leu287=) - Unknown - benign g.189584563C>T g.189866774C>T - - TP63_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/- 6 c.859C>T r.(?) p.(=) - Unknown - benign g.189584563C>T g.189866774C>T - - TP63_000010 - - - rs33979049 Germline - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.866C>A r.(?) p.(Pro289His) - Unknown - VUS g.189584570C>A g.189866781C>A TP63(NM_001114978.1):c.866C>A (p.(Pro289His)) - TP63_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.881A>G r.(?) p.(Gln294Arg) - Unknown ACMG likely pathogenic (dominant) g.189584585A>G g.189866796A>G - - TP63_000107 ACMG PM1, PM2, PP2, PP3 PubMed: Marinakis 2021 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WES ? 20039 PubMed: Marinakis 2021 - M - Greece - - - - - 1 Jan Traeger-Synodinos
?/. - c.881A>G r.(?) p.(Gln294Arg) - Unknown - VUS g.189584585A>G - TP63(NM_003722.5):c.881A>G (p.Q294R) - TP63_000107 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/- 6i c.882+68G>A r.(?) p.(=) - Unknown - benign g.189584654G>A g.189866865G>A - - TP63_000011 - - - rs35245550 Germline - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.883-139A>G r.(=) p.(=) - Unknown - benign g.189585483A>G g.189867694A>G TP63(NM_003722.5):c.883-139A>G - TP63_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/- 7 c.912C>T r.(?) p.(=) - Unknown - benign g.189585651C>T g.189867862C>T - - TP63_000012 - - - rs34119860 Germline - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.918C>T r.(?) p.(Phe306=) - Unknown - likely benign g.189585657C>T - TP63(NM_001329964.1):c.912C>T (p.F304=) - TP63_000110 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.923G>A r.(?) p.(Cys308Tyr) - Unknown - pathogenic g.189585662G>A - - - TP63_000124 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.926A>G r.(?) p.(Asn309Ser) - Unknown - likely pathogenic g.189585665A>G g.189867876A>G - - TP63_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.929G>A r.(?) p.(Ser310Asn) - Unknown - likely pathogenic g.189585668G>A g.189867879G>A - - TP63_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.943G>T r.(?) p.(Gly315Trp) - Maternal (confirmed) - likely pathogenic g.189585682G>T g.189867893G>T - - TP63_000084 - - - - Germline - - - - - DNA SEQ-NG - - SHFM4 29-II-1 - - M no Japan - - - - - 2 Kaori Yamoto
+?/. - c.943G>T r.(?) p.(Gly315Trp) - Maternal (confirmed) - likely pathogenic g.189585682G>T g.189867893G>T - - TP63_000084 - - - - Germline - - - - - DNA SEQ-NG - WES SHFM4 29-II-2 - - M no Japan - - - - - 1 Kaori Yamoto
+/. - c.952C>T r.(?) p.(Arg318Cys) - Unknown - pathogenic g.189585691C>T g.189867902C>T TP63(NM_003722.5):c.952C>T (p.R318C) - TP63_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.952C>T r.(?) p.(Arg318Cys) - Unknown - pathogenic g.189585691C>T - TP63(NM_003722.5):c.952C>T (p.R318C) - TP63_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.953G>A r.(?) p.(Arg318His) - Unknown - pathogenic g.189585692G>A g.189867903G>A - - TP63_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.955C>T r.(?) p.(Arg319Cys) - Unknown - pathogenic g.189585694C>T g.189867905C>T - - TP63_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.956G>A r.(?) p.(Arg319His) - Unknown - pathogenic g.189585695G>A g.189867906G>A - - TP63_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 8 c.997C>T r.0? p.0? - Unknown - VUS g.189586373C>T g.189868584C>T - - TP63_000045 - Khandelwal et al., manuscript submitted - - Unknown ? - - - - DNA SEQ - - CLP - - Khandelwal et al., manuscript submitted ? ? - - - - - - 1 J.H.L.M. (Hans) van Bokhoven
+/. - c.1010G>A r.(?) p.(Arg337Gln) - Unknown - pathogenic g.189586386G>A g.189868597G>A - - TP63_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+? 8 c.1010G>A r.(?) p.(Arg337Gln) - Parent #1 - pathogenic g.189586386G>A g.189868597G>A 893G>A - TP63_000013 - PubMed: Valenzise 2008 - - Germline - - - - - DNA SEQ - - ? - PubMed: Valenzise 2008 Syndromal ARVD/C with ectodermal dysplasia - - - - - - - - 1 Paul van der Zwaag
+?/. - c.1013G>A r.(?) p.(Arg338His) - Unknown - likely pathogenic g.189586389G>A g.189868600G>A - - TP63_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1027C>T r.(?) p.(Arg343Trp) - Unknown - pathogenic g.189586403C>T g.189868614C>T TP63(NM_003722.5):c.1027C>T (p.R343W) - TP63_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1027C>T r.(?) p.(Arg343Trp) - Unknown - pathogenic g.189586403C>T - TP63(NM_003722.5):c.1027C>T (p.R343W) - TP63_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1028G>A r.(?) p.(Arg343Gln) - Unknown - pathogenic g.189586404G>A g.189868615G>A TP63(NM_003722.5):c.1028G>A (p.R343Q) - TP63_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1028G>A r.(?) p.(Arg343Gln) - Unknown - pathogenic g.189586404G>A - TP63(NM_003722.5):c.1028G>A (p.R343Q) - TP63_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1033T>C r.(?) p.(Cys345Arg) - Unknown - pathogenic g.189586409T>C g.189868620T>C - - TP63_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1034G>T r.(?) p.(Cys345Phe) - Unknown - likely pathogenic g.189586410G>T - TP63(NM_003722.5):c.1034G>T (p.C345F) - TP63_000114 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1040G>A r.(?) p.(Cys347Tyr) - Unknown - pathogenic g.189586416G>A g.189868627G>A - - TP63_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1042C>G r.(?) p.(Pro348Ala) - Unknown - pathogenic g.189586418C>G g.189868629C>G - - TP63_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1042C>T r.(?) p.(Pro348Ser) - Unknown - pathogenic g.189586418C>T g.189868629C>T - - TP63_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1061C>A r.(?) p.(Ala354Glu) - Unknown - likely pathogenic g.189586437C>A g.189868648C>A - - TP63_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/- 8 c.1062G>A r.(?) p.(=) - Unknown - benign g.189586438G>A g.189868649G>A - - TP63_000014 - - - rs34841666 Germline - - - - - - - - - - - - - - - - - - - - - - -
?/. 8 c.1121C>T c.(?) p.(Thr374Met) - Unknown - VUS g.189586497C>T g.189868708C>T - - TP63_000057 - Khandelwal et al., manuscript submitted - rs199807776 Unknown ? 0.00005 - - - DNA SEQ - - Healthy/Control - - Khandelwal et al., manuscript submitted ? ? - - - - - - 1 J.H.L.M. (Hans) van Bokhoven
-?/. - c.1121C>T r.(?) p.(Thr374Met) - Unknown - likely benign g.189586497C>T g.189868708C>T TP63(NM_001114978.1):c.1121C>T (p.(Thr374Met)) - TP63_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/- 8i c.1129+45C>T r.(?) p.(=) - Unknown - benign g.189586550C>T g.189868761C>T - - TP63_000015 - - - rs62281460 Germline - - - - - - - - - - - - - - - - - - - - - - -
-/- 8i c.1130-22A>G r.(?) p.(=) - Unknown - benign g.189587091A>G g.189869302A>G - - TP63_000016 - - - rs6789961 Germline - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1178G>A r.(?) p.(Arg393Gln) - Unknown - VUS g.189587161G>A - TP63(NM_003722.4):c.1178G>A (p.(Arg393Gln)) - TP63_000119 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/- 9i c.1212+43T>C r.(?) p.(=) - Unknown - benign g.189587238T>C g.189869449T>C - - TP63_000017 - - - rs35361646 Germline - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1212+79A>G r.(=) p.(=) - Unknown - benign g.189587274A>G g.189869485A>G TP63(NM_003722.5):c.1212+79A>G - TP63_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/- 9i c.1212+79A>G r.(?) p.(=) - Unknown - benign g.189587274A>G g.189869485A>G - - TP63_000018 - - - rs6790167 Germline - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1213-4A>G r.spl? p.? - Unknown - likely benign g.189590644A>G g.189872855A>G TP63(NM_001114978.1):c.1213-4A>G (p.?) - TP63_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 10 c.1213G>A r.spl? p.(Val405Met) - Paternal (confirmed) - likely pathogenic g.189590648G>A g.189872859G>A - - TP63_000051 Inherited from healthy father Khandelwal et al., manuscript submitted - - Germline ? - - - - DNA SEQ - - CLP - - Khandelwal et al., manuscript submitted ? ? - - - - - - 1 J.H.L.M. (Hans) van Bokhoven
?/. 10 c.1223G>A r.(?) p.(Arg408His) - Paternal (confirmed) - VUS g.189590658G>A g.189872869G>A - - TP63_000052 inherited from healthy father Khandelwal et al., manuscript submitted - rs751698974 Germline ? 0.000008 - - - DNA SEQ - - CLP - - Khandelwal et al. Manuscript submitted ? ? - - - - - - 1 J.H.L.M. (Hans) van Bokhoven
-?/. - c.1325A>G r.(?) p.(Gln442Arg) - Unknown - likely benign g.189590760A>G g.189872971A>G TP63(NM_001114980.1):c.1043A>G (p.(Gln348Arg)) - TP63_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1339C>T r.(?) p.(Leu447Phe) - Unknown - VUS g.189590774C>T - TP63(NM_001114980.1):c.1057C>T (p.(Leu353Phe)) - TP63_000120 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1349+40G>C r.(=) p.(=) - Unknown - benign g.189590824G>C g.189873035G>C TP63(NM_003722.5):c.1349+40G>C - TP63_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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