Full data view for gene CUL4B

Information The variants shown are described using the NM_003588.3 transcript reference sequence.

79 entries on 1 page. Showing entries 1 - 79.
Legend  

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.26G>A likely benign r.(?) p.(Gly9Glu) Unknown g.119708447C>T - CUL4B(NM_003588.3):c.26G>A (p.G9E) - CUL4B_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.26G>A likely benign r.(?) p.(Gly9Glu) Unknown g.119708447C>T - CUL4B(NM_003588.3):c.26G>A (p.G9E) - CUL4B_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.26G>A likely benign r.(?) p.(Gly9Glu) Unknown g.119708447C>T - CUL4B(NM_003588.3):c.26G>A (p.G9E) - CUL4B_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.65G>A likely benign r.(?) p.(Gly22Asp) Unknown g.119708408C>T - CUL4B(NM_003588.3):c.65G>A (p.G22D) - CUL4B_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 2i c.68-5940_68-193del - r.0 p.0 Maternal (confirmed) g.119694673_119700420del g.120560818_120566565del hg18 chrX:g.119578701_119584448del - CUL4B_000022 variant does not affect the gene, but qPCR revealed a complete loss of CUL4B expression Vulto-van Silfhout, submitted - - Germline - - - 0 - DNA arrayCGH, SEQ-NG - - MRX-15 - - - - - - - - 0 - - 1 Anneke Vulto-van Silfhout
+/. 2i c.68-5940_68-193del - r.0 p.0 Maternal (confirmed) g.119694673_119700420del g.120560818_120566565del hg18 chrX:g.119578701_119584448del - CUL4B_000022 complete loss RNA expression patient LCLs, CUL4A expression unchanged PubMed: Wibley 2010 - - Germline yes - - 0 - DNA, RNA arrayCGH, PCR, RT-PCR, SEQ LCL - MRX;IDX - PubMed: Wibley 2010 4-generation family, 7 affecteds, unafected carrier females M no - - - 0 - - 7 Johan den Dunnen
+/. 3 c.149C>T - r.(?) p.(Pro50Leu) Maternal (confirmed) g.119694399G>A g.120560544G>A - - CUL4B_000013 - - - - Germline yes - - 0 - DNA SEQ-NG - - MRX-15 - - - - - - - - 0 - - 2 Anneke Vulto-van Silfhout
-?/. - c.194_202del likely benign r.(?) p.(Ser65_Ser67del) Unknown g.119694356_119694364del - CUL4B(NM_001079872.1):c.140_148del (p.(Ser47_Ser49del), p.(Ser65_Ser67del)) - CUL4B_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.373C>G likely benign r.(?) p.(Leu125Val) Unknown g.119694175G>C - CUL4B(NM_003588.3):c.373C>G (p.L125V) - CUL4B_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/? 3 c.429_431dup - r.(?) p.(Ser146dup) Unknown g.119694117_119694119dup g.120560262_120560264dup - - CUL4B_000010 - - - - Unknown ? - - 0 - DNA SEQ - - MRX;IDX - - - M - ? (unknown) ? - 0 - - 1 Andreas Tzschach
./. - c.479_480del - r.(?) p.(Ser161Tyrfs*24) Maternal (confirmed) g.119694068_119694069del - CUL4B S143Yfs*24 - CUL4B_000059 - PubMed: Hu 2016 - - Germline yes - - 0 - DNA SEQ, SEQ-NG - WES-X chromosome MRX;IDX 25644381-FamD287 PubMed: Hu 2016 family, 2 affected, 3 unaffected heterozygous carrier females M - - - - 0 - - 2 Johan den Dunnen
+/. 3 c.481_482del - r.(?) p.(Ser161Tyrfs*24) Maternal (confirmed) g.119694066_119694067del g.120560211_120560212del - - CUL4B_000014 - - - - Germline yes - - 0 - DNA SEQ-NG - - MRX-15 - - - - - - - - 0 - - 2 Anneke Vulto-van Silfhout
?/? 4 c.638C>T - r.(?) p.(Thr213Ile) Parent #1 g.119691867G>A g.120558012G>A - - CUL4B_000007 found once, non-recurrent change PubMed: Tarpey 2009 - - Germline ? 1/208 cases - 0 - DNA SEQ - - MRX;IDX 19377139-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
+?/. - c.750C>A likely pathogenic r.(?) p.(Tyr250*) Unknown g.119681071G>T - CUL4B(NM_003588.3):c.750C>A (p.Tyr250*) - CUL4B_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
./. - c.809del - r.(?) p.(Ala270Aspfs*17) Maternal (confirmed) g.119681012del - CUL4B A252Dfs*17 - CUL4B_000058 - PubMed: Hu 2016 - - Germline yes - - 0 - DNA SEQ, SEQ-NG - WES-X chromosome MRX;IDX 25644381-FamT131 PubMed: Hu 2016 family, 2 affected, 2 unaffected heterozygous carrier females M - - - - 0 - - 2 Johan den Dunnen
-?/. - c.817C>A likely benign r.(?) p.(His273Asn) Unknown g.119681004G>T - CUL4B(NM_003588.3):c.817C>A (p.H273N) - CUL4B_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.817C>G VUS r.(?) p.(His273Asp) Unknown g.119681004G>C - CUL4B(NM_001079872.1):c.763C>G (p.(His255Asp), p.(His273Asp)) - CUL4B_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.830+11dup likely benign r.(=) p.(=) Unknown g.119680984dup - CUL4B(NM_003588.3):c.830+11dupT - CUL4B_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.830+12A>T likely benign r.(=) p.(=) Unknown g.119680979T>A - CUL4B(NM_003588.3):c.830+12A>T - CUL4B_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.831-12C>T likely benign r.(=) p.(=) Unknown g.119680483G>A - CUL4B(NM_003588.3):c.831-12C>T - CUL4B_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.867T>C likely benign r.(?) p.(=) Unknown g.119680435A>G - CUL4B(NM_003588.3):c.867T>C (p.I289=) - CUL4B_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.901-10del benign r.(=) p.(=) Unknown g.119679390del - CUL4B(NM_003588.3):c.901-10delT - CUL4B_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.949C>T pathogenic r.(?) p.(Gln317*) Unknown g.119679324G>A - CUL4B(NM_003588.3):c.949C>T (p.Gln317*) - CUL4B_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.964C>T VUS r.(?) p.(Pro322Ser) Unknown g.119679309G>A - CUL4B(NM_003588.3):c.964C>T (p.Pro322Ser) - CUL4B_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1003C>T likely benign r.(?) p.(His335Tyr) Unknown g.119678470G>A - CUL4B(NM_003588.3):c.1003C>T (p.H335Y) - CUL4B_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
./. - c.1004_1008del - r.(?) p.(Ile336Lysfs*2) Maternal (confirmed) g.119678465_119678469del - CUL4B I318Kfs*2 - CUL4B_000057 - PubMed: Hu 2016 - - Germline yes - - 0 - DNA SEQ, SEQ-NG - WES-X chromosome MRX;IDX 25644381-FamN146 PubMed: Hu 2016 family, 2 affected, 1 unaffected heterozygous carrier female M - - - - 0 - - 2 Johan den Dunnen
?/? 8 c.1007_1011del - r.(?) p.(Ile336Lysfs*2) Parent #1 g.119678462_119678466del g.120544607_120544611del 1007_1011delTTATA - CUL4B_000001 found once, non-recurrent change PubMed: Tarpey 2009 - - Germline ? 1/208 cases - 0 - DNA SEQ - - MRX;IDX 19377133-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
+/. 8 c.1007_1011del - r.(?) p.(Ile336Lysfs*2) Maternal (confirmed) g.119678462_119678466del g.120544607_120544611del - - CUL4B_000001 - - - - Germline yes - - 0 - DNA SEQ-NG - - MRX-15 - - - M - - - - 0 - - 1 Anneke Vulto-van Silfhout
-/. - c.1138-38C>T benign r.(=) p.(=) Unknown g.119678096G>A - CUL4B(NM_003588.3):c.1138-38C>T - CUL4B_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1139T>G likely benign r.(?) p.(Ile380Ser) Unknown g.119678057A>C - CUL4B(NM_003588.3):c.1139T>G (p.I380S) - CUL4B_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1148A>G VUS r.(?) p.(Asp383Gly) Unknown g.119678048T>C - CUL4B(NM_003588.3):c.1148A>G (p.D383G) - CUL4B_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/? 9 c.1162C>T - r.(?) p.(Arg388*) Parent #1 g.119678034G>A g.120544179G>A - - CUL4B_000002 found once, non-recurrent change PubMed: Tarpey 2009 - - Germline ? 1/208 cases - 0 - DNA SEQ - - MRX;IDX 19377134-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
+/. 9 c.1162C>T ACMG: 5 r.(?) p.(Arg388*) Parent #1 g.119678034G>A - - - CUL4B_000002 - PubMed: Tumienė 2018 - - Germline - - - 0 - DNA SEQ-NG - WES ? 29286531-Pat17 PubMed: Tumienė 2018 - - - (Slovenia) - - 0 - - 1 Johan den Dunnen
+/. - c.1162C>T pathogenic r.(?) p.(Arg388*) Unknown g.119678034G>A - CUL4B(NM_003588.3):c.1162C>T (p.R388*) - CUL4B_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1293_1296del likely pathogenic r.(?) p.(Tyr431*) Unknown g.119677603_119677606del - CUL4B(NM_003588.3):c.1293_1296delCTTA (p.Y431*) - CUL4B_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1311-19T>C likely benign r.(=) p.(=) Unknown g.119676907A>G - CUL4B(NM_003588.3):c.1311-19T>C - CUL4B_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1311-9del benign r.(=) p.(=) Unknown g.119676907del - CUL4B(NM_003588.3):c.1311-9delT - CUL4B_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1378+15G>A benign r.(=) p.(=) Unknown g.119676806C>T - CUL4B(NM_003588.3):c.1378+15G>A - CUL4B_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
./. - c.1450C>T - r.(?) p.(Arg484*) Maternal (confirmed) g.119675504G>A - CUL4B R466* - CUL4B_000056 - PubMed: Hu 2016 - - Germline yes - - 0 - DNA SEQ, SEQ-NG - WES-X chromosome MRX;IDX 25644381-FamP194 PubMed: Hu 2016 family, 2 affected, 2 unaffected heterozygous carrier females M - - - - 0 - - 2 Johan den Dunnen
?/. - c.1451_1462del VUS r.(?) p.(Arg484_Val487del) Unknown g.119675498_119675509del - CUL4B(NM_003588):c.1451_1462del (p.Arg484_Val487del) - CUL4B_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1497+76C>T benign r.(=) p.(=) Unknown g.119675381G>A - CUL4B(NM_003588.3):c.1497+76C>T - CUL4B_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1497+102del benign r.(=) p.(=) Unknown g.119675367del - CUL4B(NM_003588.3):c.1497+102delT - CUL4B_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/? 14 c.1714C>T - r.(?) p.(Arg572Cys) Parent #1 g.119673204G>A g.120539349G>A - - CUL4B_000003 found once, non-recurrent change PubMed: Tarpey 2009 - - Germline ? 1/208 cases - 0 - DNA SEQ - - MRX;IDX 19377135-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
+?/. - c.1728del likely pathogenic r.(?) p.(Glu577Lysfs*15) Unknown g.119673192del - CUL4B(NM_001079872.1):c.1674del (p.(Glu559LysfsTer15), p.(Glu577LysfsTer15)) - CUL4B_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1776C>T likely benign r.(?) p.(=) Unknown g.119673142G>A - CUL4B(NM_003588.3):c.1776C>T (p.I592=) - CUL4B_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
./. - c.1858_1860dup - r.(?) p.(Ser620dup) Maternal (confirmed) g.119672561_119672563dup - CUL4B insGCA S603_D604insA - CUL4B_000055 - PubMed: Hu 2016 - - Germline yes - - 0 - DNA SEQ, SEQ-NG - WES-X chromosome MRX;IDX 25644381-FamP142 PubMed: Hu 2016 family, 2 affected, 2 unaffected heterozygous carrier females M - - - - 0 - - 2 Johan den Dunnen
+/. 15 c.1860_1862dup - r.(?) p.(Ala621dup) Maternal (confirmed) g.119672559_119672561dup g.120538704_120538706dup - - CUL4B_000019 - - - - Germline yes - - 0 - DNA SEQ-NG - - MRX-15 - - - M - (France) - - 0 - - 3 Anneke Vulto-van Silfhout
+/. 15i c.1906+1G>T - r.1796_1906del p.Gly599_His635del Maternal (confirmed) g.119672514C>A g.120538659C>A - - CUL4B_000016 - - - - Germline yes - - 0 - DNA, RNA RT-PCR, SEQ, SEQ-NG - - MRX-15 - - - M - - - - 0 - - 1 Anneke Vulto-van Silfhout
./. - c.1906+1G>T - r.spl? p.? Maternal (confirmed) g.119672514C>A - CUL4B splice donor - CUL4B_000016 - PubMed: Hu 2016 - - Germline yes - - 0 - DNA SEQ, SEQ-NG - WES-X chromosome MRX;IDX 25644381-FamD102 PubMed: Hu 2016 family, 2 affected, 1 unaffected heterozygous carrier female M - - - - 0 - - 2 Johan den Dunnen
-?/. - c.1911C>T likely benign r.(?) p.(=) Unknown g.119672060G>A - CUL4B(NM_003588.3):c.1911C>T (p.C637=) - CUL4B_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1911C>T likely benign r.(?) p.(=) Unknown g.119672060G>A - CUL4B(NM_003588.3):c.1911C>T (p.C637=) - CUL4B_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1911C>T likely benign r.(?) p.(=) Unknown g.119672060G>A - CUL4B(NM_003588.3):c.1911C>T (p.C637=) - CUL4B_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1993-5T>C likely benign r.spl? p.? Unknown g.119670894A>G - CUL4B(NM_003588.3):c.1993-5T>C - CUL4B_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2015C>T likely benign r.(?) p.(Pro672Leu) Unknown g.119670867G>A - CUL4B(NM_001079872.1):c.1961C>T (p.(Pro654Leu), p.(Pro672Leu)) - CUL4B_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 17 c.2060G>A - r.(?) p.(Trp687*) Maternal (confirmed) g.119670822C>T g.120536967C>T - - CUL4B_000009 - - - - Germline ? - - 0 - DNA SEQ - - MRX;IDX - - - M - ? (unknown) ? - 0 - - 1 Andreas Tzschach
+/. - c.2061G>A pathogenic r.(?) p.(Trp687*) Unknown g.119670821C>T - CUL4B(NM_003588.3):c.2061G>A (p.W687*) - CUL4B_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2095C>A likely benign r.(?) p.(Pro699Thr) Unknown g.119670787G>T - CUL4B(NM_001079872.1):c.2041C>A (p.(Pro681Thr), p.(Pro699Thr)) - CUL4B_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2193_2194del - r.(?) p.(Leu732Lysfs*5) Both (homozygous) g.119669705_119669706del - 2193_2194delGT - CUL4B_000050 - - - - Unknown - - - 0 - DNA SEQ - - - - - - M - (Germany) - - 0 - - 1 IMGAG
?/. 18i c.2214+99_2214+102del - r.(?) p.(=) Unknown g.119669583_119669586del g.120535728_120535731del - - CUL4B_000011 - - - - Germline - - - 0 - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. 18i c.2214+100_2214+101del - r.(?) p.(=) Unknown g.119669584_119669585del g.120535729_120535730del - - CUL4B_000012 - - - - Germline - - - 0 - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
-?/. - c.2215-15T>G likely benign r.(=) p.(=) Unknown g.119668456A>C - CUL4B(NM_003588.3):c.2215-15T>G - CUL4B_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/? 19 c.2234T>C - r.(?) p.(Val745Ala) Parent #1 g.119668422A>G g.120534567A>G - - CUL4B_000004 found once, non-recurrent change PubMed: Tarpey 2009 - - Germline ? 1/208 cases - 0 - DNA SEQ - - MRX;IDX 19377136-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
?/. - c.2287A>G VUS r.(?) p.(Ser763Gly) Unknown g.119668369T>C - CUL4B(NM_003588.3):c.2287A>G (p.S763G) - CUL4B_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2320+113del benign r.(=) p.(=) Unknown g.119668232del - CUL4B(NM_003588.3):c.2320+113delT - CUL4B_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.2320+123del benign r.(=) p.(=) Unknown g.119668221del - CUL4B(NM_003588.3):c.2320+123delT - CUL4B_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
./. - c.2352_2354del - r.(?) p.(Leu785del) Maternal (confirmed) g.119666416_119666418del - CUL4B L767del12 - CUL4B_000054 - PubMed: Hu 2016 - - Germline yes - - 0 - DNA SEQ, SEQ-NG - WES-X chromosome MRX;IDX 25644381-FamD112 PubMed: Hu 2016 family, 3 affected, 2 unaffected heterozygous carrier females M - - - - 0 - - 3 Johan den Dunnen
+/. 20 c.2353_2355del - r.(?) p.(Leu785del) Maternal (confirmed) g.119666415_119666417del g.120532560_120532562del - - CUL4B_000020 - - - - Germline yes - - 0 - DNA SEQ-NG - - MRX-15 - - - M ? Germany - - 0 yes - 3 Anneke Vulto-van Silfhout
+/. 20 c.2361dup - r.(?) p.(Gly788Trpfs*4) Maternal (confirmed) g.119666410dup - - - CUL4B_000017 - - - - Germline yes - - 0 - DNA SEQ-NG - - MRX-15 - - - - - - - - 0 - - 1 Anneke Vulto-van Silfhout
./. - c.2361dup - r.(?) p.(Gly788Trpfs*4) Maternal (confirmed) g.119666409dup - CUL4B insA G770Wfs*4 - CUL4B_000017 - PubMed: Hu 2016 - - Germline yes - - 0 - DNA SEQ, SEQ-NG - WES-X chromosome MRX;IDX 25644381-FamD203 PubMed: Hu 2016 family, 3 affected, 3 unaffected heterozygous carrier females M - - - - 0 - - 3 Johan den Dunnen
+?/? 20 c.2469C>G - r.(?) p.(Ile823Met) Maternal (confirmed) g.119666301G>C g.120532446G>C - - CUL4B_000008 - - - - Germline ? - - 0 - DNA SEQ - - MRX;IDX - - - ? - ? (unknown) ? - 0 - - 1 Andreas Tzschach
?/? 20 c.2493G>A - r.(spl?) p.(=) Parent #1 g.119666277C>T g.120532422C>T T831T - CUL4B_000005 found once, non-recurrent change PubMed: Tarpey 2009 - - Germline ? 1/208 cases - 0 - DNA SEQ - - MRX;IDX 19377137-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
+/. 20i c.2493+3A>G - r.[2414_2493del, 2429_2493del] p.Asp806*; p.Asn811* Maternal (confirmed) g.119666274A>G g.120532419T>C - - CUL4B_000018 - - - - Germline yes - - 0 - DNA, RNA RT-PCR, SEQ, SEQ-NG - - MRX-15 - - - M - - - - 0 - - 1 Anneke Vulto-van Silfhout
-?/. - c.2493+7C>T likely benign r.(=) p.(=) Unknown g.119666270G>A - CUL4B(NM_003588.3):c.2493+7C>T - CUL4B_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.2494-5G>T likely benign r.spl? p.? Unknown g.119664114C>A - CUL4B(NM_003588.3):c.2494-5G>T - CUL4B_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2566C>G pathogenic r.(?) p.(Arg856Gly) Unknown g.119664037G>C - CUL4B(NM_003588.3):c.2566C>G (p.(Arg856Gly)) - CUL4B_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/? 21 c.2566C>T - r.(?) p.(Arg856*) Parent #1 g.119664037G>A g.120530182G>A - - CUL4B_000006 found once, non-recurrent change PubMed: Tarpey 2009 - - Germline ? 1/208 cases - 0 - DNA SEQ - - MRX;IDX 19377138-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
+/. 21 c.2590_2593del - r.(?) p.(Leu864Alafs*13) Maternal (confirmed) g.119664010_119664013del g.120530155_120530158del - - CUL4B_000021 - - - - Germline yes - - 0 - DNA SEQ-NG blood - MRX-15 - - - M no Netherlands Caucasian - 0 yes - 3 Anneke Vulto-van Silfhout
+/. 21 c.2626C>T - r.(?) p.(Gln876*) Maternal (confirmed) g.119663977G>A g.120530122G>A - - CUL4B_000015 - - - - Germline yes - - 0 - DNA SEQ-NG - - MRX-15 - - - - - - - - 0 - - 1 Anneke Vulto-van Silfhout
-?/. - c.2712A>G likely benign r.(?) p.(=) Unknown g.119660646T>C - CUL4B(NM_003588.3):c.2712A>G (p.E904=) - CUL4B_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
Legend