All variants in the CNBP gene

Information The variants shown are described using the NM_003418.4 transcript reference sequence.

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

Exon     

AscendingDNA change (cDNA)     

Haplotype     

RNA change     

Protein     

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     

Owner     
-/. p.(=) c.-14-961_-14-806TG[(13_21)]TCTG[(8_13)]CCTG[(6_9)]GCTGCCTGTCTG[1]CCTG[7]GCTGCCTGTCTG[1]CCTG[(6_7)] TG[(13_21)]TCTG[(8_13)]CCTG[(6_9)]GCTGCCTGTCTG[1]CCTG[7]GCTGCCTGTCTG[1]CCTG[(6_7)] r.(=) 1i - benign g.128891420_128891575CAGG[(6_7)]CAGACAGGCAGC[1]CAGG[7]CAGACAGGCAGC[1]CAGG[(6_9)]CAGA[(8_13)]CA[(13_21)] g.129172577_129172732CAGG[(6_7)]CAGACAGGCAGC[1]CAGG[7]CAGACAGGCAGC[1]CAGG[(6_9)]CAGA[(8_13)]CA[(13_21)] - - CNBP_000029 - PubMed: Bachinski 2009 - - Germline - 7/44 control chromosomes - - - Johan den Dunnen
-/. p.(=) c.-14-961_-14-806TG[(13_26)]TCTG[(7_10)]CCTG[(4_7)]GCTGCCTGTCTG[1]CCTG[(7_9)] TG[(13_26)]TCTG[(7_10)]CCTG[(4_7)]GCTGCCTGTCTG[1]CCTG[(7_9)] r.(=) 1i - benign g.128891420_128891575CAGG[(7_9)]CAGACAGGCAGC[1]CAGG[(4_7)]CAGA[(7_10)]CA[(13_26)] g.129172577_129172732CAGG[(7_9)]CAGACAGGCAGC[1]CAGG[(4_7)]CAGA[(7_10)]CA[(13_26)] - - CNBP_000028 - PubMed: Bachinski 2009 - - Germline - 23/44 control chromosomes - - - Johan den Dunnen
-/. p.(=) c.-14-961_-14-806TG[(14_20)]TCTG[(2_14)]CCTG[(7_15)]GCTGCCTGTCTG[1]CCTG[(7_16)] TG[(14_20)]TCTG[(2_14)]CCTG[(7_15)]GCTGCCTGTCTG[1]CCTG[(7_16)] r.(=) 1i - benign g.128891420_128891575CAGG[(7_16)]CAGACAGGCAGC[1]CAGG[(7_15)]CAGA[(2_14)]CA[(14_20)] g.129172577_129172732CAGG[(7_16)]CAGACAGGCAGC[1]CAGG[(7_15)]CAGA[(2_14)]CA[(14_20)] - - CNBP_000030 - PubMed: Bachinski 2009 - - Germline - 5/44 control chromosomes - - - Johan den Dunnen
-/. p.(=) c.-14-961_-14-806TG[(17_20)]TCTG[(7_9)]CCTG[(24_32)] TG[(17_20)]TCTG[(7_9)]CCTG[(24_32)] r.(=) 1i - benign g.128891420_128891575CAGG[(24_32)]CAGA[(7_9)]CA[(17_20)] g.129172577_129172732CAGG[(24_32)]CAGA[(7_9)]CA[(17_20)] - - CNBP_000031 - PubMed: Bachinski 2009 - - Germline - 4/44 control chromosomes - - - Johan den Dunnen
+/. p.? c.-14-961_-14-806TG[16[TCTG[9]CCTG[(100)] TG[16[TCTG[9]CCTG[(100)] r.? 1i - pathogenic (dominant) g.128891420_128891575CAGG[(100)]CAGA[9]CA[16] g.129172577_129172732CAGG[(100)]CAGA[9]CA[16] expanded - CNBP_000004 - PubMed: Liquori 2001 - - Germline - - - - - Johan den Dunnen
+/. p.? c.-14-961_-14-806TG[16[TCTG[9]CCTG[(1000)] TG[16[TCTG[9]CCTG[(1000)] r.? 1i - pathogenic (dominant) g.128891420_128891575CAGG[(1000)]CAGA[9]CA[16] g.129172577_129172732CAGG[(1000)]CAGA[9]CA[16] expanded - CNBP_000006 - PubMed: Liquori 2001 - - Germline - - - - - Johan den Dunnen
+/. p.? c.-14-961_-14-806TG[16[TCTG[9]CCTG[(10000)] TG[16[TCTG[9]CCTG[(10000)] r.? 1i - pathogenic (dominant) g.128891420_128891575CAGG[(10000)]CAGA[9]CA[16] g.129172577_129172732CAGG[(10000)]CAGA[9]CA[16] expanded - CNBP_000024 - PubMed: Liquori 2001 - - Germline - - - - - Johan den Dunnen
+/. p.? c.-14-961_-14-806TG[16[TCTG[9]CCTG[(10500)] TG[16[TCTG[9]CCTG[(10500)] r.? 1i - pathogenic (dominant) g.128891420_128891575CAGG[(10500)]CAGA[9]CA[16] g.129172577_129172732CAGG[(10500)]CAGA[9]CA[16] expanded - CNBP_000025 - PubMed: Liquori 2001 - - Germline - - - - - Johan den Dunnen
+/. p.? c.-14-961_-14-806TG[16[TCTG[9]CCTG[(11000)] TG[16[TCTG[9]CCTG[(11000)] r.? 1i - pathogenic (dominant) g.128891420_128891575CAGG[(11000)]CAGA[9]CA[16] g.129172577_129172732CAGG[(11000)]CAGA[9]CA[16] expanded - CNBP_000026 - PubMed: Liquori 2001 - - Germline - - - - - Johan den Dunnen
+/. p.? c.-14-961_-14-806TG[16[TCTG[9]CCTG[(1500)] TG[16[TCTG[9]CCTG[(1500)] r.? 1i - pathogenic (dominant) g.128891420_128891575CAGG[(1500)]CAGA[9]CA[16] g.129172577_129172732CAGG[(1500)]CAGA[9]CA[16] expanded - CNBP_000007 - PubMed: Liquori 2001 - - Germline - - - - - Johan den Dunnen
+/. p.? c.-14-961_-14-806TG[16[TCTG[9]CCTG[(2000)] TG[16[TCTG[9]CCTG[(2000)] r.? 1i - pathogenic (dominant) g.128891420_128891575CAGG[(2000)]CAGA[9]CA[16] g.129172577_129172732CAGG[(2000)]CAGA[9]CA[16] expanded - CNBP_000008 - PubMed: Liquori 2001 - - Germline - - - - - Johan den Dunnen
+/. p.? c.-14-961_-14-806TG[16[TCTG[9]CCTG[(2500)] TG[16[TCTG[9]CCTG[(2500)] r.? 1i - pathogenic (dominant) g.128891420_128891575CAGG[(2500)]CAGA[9]CA[16] g.129172577_129172732CAGG[(2500)]CAGA[9]CA[16] expanded - CNBP_000009 - PubMed: Liquori 2001 - - Germline - - - - - Johan den Dunnen
+/. p.? c.-14-961_-14-806TG[16[TCTG[9]CCTG[(3000)] TG[16[TCTG[9]CCTG[(3000)] r.? 1i - pathogenic (dominant) g.128891420_128891575CAGG[(3000)]CAGA[9]CA[16] g.129172577_129172732CAGG[(3000)]CAGA[9]CA[16] expanded - CNBP_000010 - PubMed: Liquori 2001 - - Germline - - - - - Johan den Dunnen
+/. p.? c.-14-961_-14-806TG[16[TCTG[9]CCTG[(3500)] TG[16[TCTG[9]CCTG[(3500)] r.? 1i - pathogenic (dominant) g.128891420_128891575CAGG[(3500)]CAGA[9]CA[16] g.129172577_129172732CAGG[(3500)]CAGA[9]CA[16] expanded - CNBP_000011 - PubMed: Liquori 2001 - - Germline - - - - - Johan den Dunnen
+/. p.? c.-14-961_-14-806TG[16[TCTG[9]CCTG[(4000)] TG[16[TCTG[9]CCTG[(4000)] r.? 1i - pathogenic (dominant) g.128891420_128891575CAGG[(4000)]CAGA[9]CA[16] g.129172577_129172732CAGG[(4000)]CAGA[9]CA[16] expanded - CNBP_000012 - PubMed: Liquori 2001 - - Germline - - - - - Johan den Dunnen
+/. p.? c.-14-961_-14-806TG[16[TCTG[9]CCTG[(4500)] TG[16[TCTG[9]CCTG[(4500)] r.? 1i - pathogenic (dominant) g.128891420_128891575CAGG[(4500)]CAGA[9]CA[16] g.129172577_129172732CAGG[(4500)]CAGA[9]CA[16] expanded - CNBP_000013 - PubMed: Liquori 2001 - - Germline - - - - - Johan den Dunnen
+/. p.? c.-14-961_-14-806TG[16[TCTG[9]CCTG[(500)] TG[16[TCTG[9]CCTG[(500)] r.? 1i - pathogenic (dominant) g.128891420_128891575CAGG[(500)]CAGA[9]CA[16] g.129172577_129172732CAGG[(500)]CAGA[9]CA[16] expanded - CNBP_000005 - PubMed: Liquori 2001 - - Germline - - - - - Johan den Dunnen
+/. p.? c.-14-961_-14-806TG[16[TCTG[9]CCTG[(5000)] TG[16[TCTG[9]CCTG[(5000)] r.? 1i - pathogenic (dominant) g.128891420_128891575CAGG[(5000)]CAGA[9]CA[16] g.129172577_129172732CAGG[(5000)]CAGA[9]CA[16] expanded - CNBP_000014 - PubMed: Liquori 2001 - - Germline - - - - - Johan den Dunnen
+/. p.? c.-14-961_-14-806TG[16[TCTG[9]CCTG[(5500)] TG[16[TCTG[9]CCTG[(5500)] r.? 1i - pathogenic (dominant) g.128891420_128891575CAGG[(5500)]CAGA[9]CA[16] g.129172577_129172732CAGG[(5500)]CAGA[9]CA[16] expanded - CNBP_000015 - PubMed: Liquori 2001 - - Germline - - - - - Johan den Dunnen
+/. p.? c.-14-961_-14-806TG[16[TCTG[9]CCTG[(6000)] TG[16[TCTG[9]CCTG[(6000)] r.? 1i - pathogenic (dominant) g.128891420_128891575CAGG[(6000)]CAGA[9]CA[16] g.129172577_129172732CAGG[(6000)]CAGA[9]CA[16] expanded - CNBP_000016 - PubMed: Liquori 2001 - - Germline - - - - - Johan den Dunnen
+/. p.? c.-14-961_-14-806TG[16[TCTG[9]CCTG[(6500)] TG[16[TCTG[9]CCTG[(6500)] r.? 1i - pathogenic (dominant) g.128891420_128891575CAGG[(6500)]CAGA[9]CA[16] g.129172577_129172732CAGG[(6500)]CAGA[9]CA[16] expanded - CNBP_000017 - PubMed: Liquori 2001 - - Germline - - - - - Johan den Dunnen
+/. p.? c.-14-961_-14-806TG[16[TCTG[9]CCTG[(7000)] TG[16[TCTG[9]CCTG[(7000)] r.? 1i - pathogenic (dominant) g.128891420_128891575CAGG[(7000)]CAGA[9]CA[16] g.129172577_129172732CAGG[(7000)]CAGA[9]CA[16] expanded - CNBP_000018 - PubMed: Liquori 2001 - - Germline - - - - - Johan den Dunnen
+/. p.? c.-14-961_-14-806TG[16[TCTG[9]CCTG[(7500)] TG[16[TCTG[9]CCTG[(7500)] r.? 1i - pathogenic (dominant) g.128891420_128891575CAGG[(7500)]CAGA[9]CA[16] g.129172577_129172732CAGG[(7500)]CAGA[9]CA[16] expanded - CNBP_000019 - PubMed: Liquori 2001 - - Germline - - - - - Johan den Dunnen
+/. p.? c.-14-961_-14-806TG[16[TCTG[9]CCTG[(8000)] TG[16[TCTG[9]CCTG[(8000)] r.? 1i - pathogenic (dominant) g.128891420_128891575CAGG[(8000)]CAGA[9]CA[16] g.129172577_129172732CAGG[(8000)]CAGA[9]CA[16] expanded - CNBP_000020 - PubMed: Liquori 2001 - - Germline - - - - - Johan den Dunnen
+/. p.? c.-14-961_-14-806TG[16[TCTG[9]CCTG[(8500)] TG[16[TCTG[9]CCTG[(8500)] r.? 1i - pathogenic (dominant) g.128891420_128891575CAGG[(8500)]CAGA[9]CA[16] g.129172577_129172732CAGG[(8500)]CAGA[9]CA[16] expanded - CNBP_000021 - PubMed: Liquori 2001 - - Germline - - - - - Johan den Dunnen
+/. p.? c.-14-961_-14-806TG[16[TCTG[9]CCTG[(9000)] TG[16[TCTG[9]CCTG[(9000)] r.? 1i - pathogenic (dominant) g.128891420_128891575CAGG[(9000)]CAGA[9]CA[16] g.129172577_129172732CAGG[(9000)]CAGA[9]CA[16] expanded - CNBP_000022 - PubMed: Liquori 2001 - - Germline - - - - - Johan den Dunnen
+/. p.? c.-14-961_-14-806TG[16[TCTG[9]CCTG[(9500)] TG[16[TCTG[9]CCTG[(9500)] r.? 1i - pathogenic (dominant) g.128891420_128891575CAGG[(9500)]CAGA[9]CA[16] g.129172577_129172732CAGG[(9500)]CAGA[9]CA[16] expanded - CNBP_000023 - PubMed: Liquori 2001 - - Germline - - - - - Johan den Dunnen
+/. p.? c.-14-961_-14-806TG[16[TCTG[9]CCTG[(exp)] TG[16[TCTG[9]CCTG[(exp)] r.? 1i - pathogenic (dominant) g.128891420_128891575CAGG[(exp)]CAGA[9]CA[16] g.129172577_129172732CAGG[(100)]CAGA[9]CA[16] expanded - CNBP_000027 - PubMed: Liquori 2003 - - Germline - - - - - Johan den Dunnen
+/. p.? c.-14-961_-14-806TG[16[TCTG[9]CCTG[(exp)] TG[16[TCTG[9]CCTG[(exp)] r.? 1i - pathogenic (dominant) g.128891420_128891575CAGG[(exp)]CAGA[9]CA[16] - expanded - CNBP_000027 - PubMed: Liquori 2003 - - Germline - - - - - Johan den Dunnen
+/. p.? c.-14-961_-14-806TG[16[TCTG[9]CCTG[(exp)] TG[16[TCTG[9]CCTG[(exp)] r.? 1i - pathogenic (dominant) g.128891420_128891575CAGG[(exp)]CAGA[9]CA[16] - expanded - CNBP_000027 - PubMed: Liquori 2003 - - Germline - - - - - Johan den Dunnen
+/. p.? c.-14-961_-14-806TG[16[TCTG[9]CCTG[(exp)] TG[16[TCTG[9]CCTG[(exp)] r.? 1i - pathogenic (dominant) g.128891420_128891575CAGG[(exp)]CAGA[9]CA[16] - expanded - CNBP_000027 - PubMed: Liquori 2003 - - Germline - - - - - Johan den Dunnen
+/. p.? c.-14-961_-14-806TG[16[TCTG[9]CCTG[(exp)] TG[16[TCTG[9]CCTG[(exp)] r.? 1i - pathogenic (dominant) g.128891420_128891575CAGG[(exp)]CAGA[9]CA[16] - expanded - CNBP_000027 - PubMed: Liquori 2003 - - Germline - - - - - Johan den Dunnen
+/. p.? c.-14-961_-14-806TG[16[TCTG[9]CCTG[(exp)] TG[16[TCTG[9]CCTG[(exp)] r.? 1i - pathogenic (dominant) g.128891420_128891575CAGG[(exp)]CAGA[9]CA[16] - expanded - CNBP_000027 - PubMed: Liquori 2003 - - Germline - - - - - Johan den Dunnen
+/. p.? c.-14-961_-14-806TG[16[TCTG[9]CCTG[(exp)] TG[16[TCTG[9]CCTG[(exp)] r.? 1i - pathogenic (dominant) g.128891420_128891575CAGG[(exp)]CAGA[9]CA[16] - expanded - CNBP_000027 - PubMed: Liquori 2003 - - Germline - - - - - Johan den Dunnen
+/. p.? c.-14-961_-14-806TG[16[TCTG[9]CCTG[(exp)] TG[16[TCTG[9]CCTG[(exp)] r.? 1i - pathogenic (dominant) g.128891420_128891575CAGG[(exp)]CAGA[9]CA[16] - expanded - CNBP_000027 - PubMed: Liquori 2003 - - Germline - - - - - Johan den Dunnen
+/. p.? c.-14-961_-14-806TG[16[TCTG[9]CCTG[(exp)] TG[16[TCTG[9]CCTG[(exp)] r.? 1i - pathogenic (dominant) g.128891420_128891575CAGG[(exp)]CAGA[9]CA[16] - expanded - CNBP_000027 - PubMed: Liquori 2003 - - Germline - - - - - Johan den Dunnen
+/. p.? c.-14-961_-14-806TG[16[TCTG[9]CCTG[(exp)] TG[16[TCTG[9]CCTG[(exp)] r.? 1i - pathogenic (dominant) g.128891420_128891575CAGG[(exp)]CAGA[9]CA[16] - expanded - CNBP_000027 - PubMed: Liquori 2003 - - Germline - - - - - Johan den Dunnen
+/. p.? c.-14-961_-14-806TG[16[TCTG[9]CCTG[(exp)] TG[16[TCTG[9]CCTG[(exp)] r.? 1i - pathogenic (dominant) g.128891420_128891575CAGG[(exp)]CAGA[9]CA[16] - expanded - CNBP_000027 - PubMed: Liquori 2003 - - Germline - - - - - Johan den Dunnen
+/. p.? c.-14-961_-14-806TG[16[TCTG[9]CCTG[(exp)] TG[16[TCTG[9]CCTG[(exp)] r.? 1i - pathogenic (dominant) g.128891420_128891575CAGG[(exp)]CAGA[9]CA[16] - expanded - CNBP_000027 - PubMed: Liquori 2003 - - Germline - - - - - Johan den Dunnen
+/. p.? c.-14-961_-14-806TG[16[TCTG[9]CCTG[(exp)] TG[16[TCTG[9]CCTG[(exp)] r.? 1i - pathogenic (dominant) g.128891420_128891575CAGG[(exp)]CAGA[9]CA[16] - expanded - CNBP_000027 - PubMed: Liquori 2003 - - Germline - - - - - Johan den Dunnen
+/. p.? c.-14-961_-14-806TG[16[TCTG[9]CCTG[(exp)] TG[16[TCTG[9]CCTG[(exp)] r.? 1i - pathogenic (dominant) g.128891420_128891575CAGG[(exp)]CAGA[9]CA[16] - expanded - CNBP_000027 - PubMed: Liquori 2003 - - Germline - - - - - Johan den Dunnen
+/. p.? c.-14-961_-14-806TG[16[TCTG[9]CCTG[(exp)] TG[16[TCTG[9]CCTG[(exp)] r.? 1i - pathogenic (dominant) g.128891420_128891575CAGG[(exp)]CAGA[9]CA[16] - expanded - CNBP_000027 - PubMed: Liquori 2003 - - Germline - - - - - Johan den Dunnen
+/. p.? c.-14-961_-14-806TG[16[TCTG[9]CCTG[(exp)] TG[16[TCTG[9]CCTG[(exp)] r.? 1i - pathogenic (dominant) g.128891420_128891575CAGG[(exp)]CAGA[9]CA[16] - expanded - CNBP_000027 - PubMed: Liquori 2003 - - Germline - - - - - Johan den Dunnen
+/. p.? c.-14-961_-14-806TG[16[TCTG[9]CCTG[(exp)] TG[16[TCTG[9]CCTG[(exp)] r.? 1i - pathogenic (dominant) g.128891420_128891575CAGG[(exp)]CAGA[9]CA[16] - expanded - CNBP_000027 - PubMed: Liquori 2003 - - Germline - - - - - Johan den Dunnen
+/. p.? c.-14-961_-14-806TG[16[TCTG[9]CCTG[(exp)] TG[16[TCTG[9]CCTG[(exp)] r.? 1i - pathogenic (dominant) g.128891420_128891575CAGG[(exp)]CAGA[9]CA[16] - expanded - CNBP_000027 - PubMed: Liquori 2003 - - Germline - - - - - Johan den Dunnen
+/. p.? c.-14-961_-14-806TG[16[TCTG[9]CCTG[(exp)] TG[16[TCTG[9]CCTG[(exp)] r.? 1i - pathogenic (dominant) g.128891420_128891575CAGG[(exp)]CAGA[9]CA[16] - expanded - CNBP_000027 - PubMed: Liquori 2003 - - Germline - - - - - Johan den Dunnen
+/. p.? c.-14-961_-14-806TG[16[TCTG[9]CCTG[(exp)] TG[16[TCTG[9]CCTG[(exp)] r.? 1i - pathogenic (dominant) g.128891420_128891575CAGG[(exp)]CAGA[9]CA[16] - expanded - CNBP_000027 - PubMed: Liquori 2003 - - Germline - - - - - Johan den Dunnen
+/. p.? c.-14-961_-14-806TG[16[TCTG[9]CCTG[(exp)] TG[16[TCTG[9]CCTG[(exp)] r.? 1i - pathogenic (dominant) g.128891420_128891575CAGG[(exp)]CAGA[9]CA[16] - expanded - CNBP_000027 - PubMed: Liquori 2003 - - Germline - - - - - Johan den Dunnen
+/. p.? c.-14-961_-14-806TG[16[TCTG[9]CCTG[(exp)] TG[16[TCTG[9]CCTG[(exp)] r.? 1i - pathogenic (dominant) g.128891420_128891575CAGG[(exp)]CAGA[9]CA[16] - expanded - CNBP_000027 - PubMed: Liquori 2003 - - Germline - - - - - Johan den Dunnen
+/. p.? c.-14-961_-14-806TG[16[TCTG[9]CCTG[(exp)] TG[16[TCTG[9]CCTG[(exp)] r.? 1i - pathogenic (dominant) g.128891420_128891575CAGG[(exp)]CAGA[9]CA[16] - expanded - CNBP_000027 - PubMed: Liquori 2003 - - Germline - - - - - Johan den Dunnen
+/. p.? c.-14-961_-14-806TG[16[TCTG[9]CCTG[(exp)] TG[16[TCTG[9]CCTG[(exp)] r.? 1i - pathogenic (dominant) g.128891420_128891575CAGG[(exp)]CAGA[9]CA[16] - expanded - CNBP_000027 - PubMed: Liquori 2003 - - Germline - - - - - Johan den Dunnen
+/. p.? c.-14-961_-14-806TG[16[TCTG[9]CCTG[(exp)] TG[16[TCTG[9]CCTG[(exp)] r.? 1i - pathogenic (dominant) g.128891420_128891575CAGG[(exp)]CAGA[9]CA[16] - expanded - CNBP_000027 - PubMed: Liquori 2003 - - Germline - - - - - Johan den Dunnen
+/. p.? c.-14-961_-14-806TG[16[TCTG[9]CCTG[(exp)] TG[16[TCTG[9]CCTG[(exp)] r.? 1i - pathogenic (dominant) g.128891420_128891575CAGG[(exp)]CAGA[9]CA[16] - expanded - CNBP_000027 - PubMed: Liquori 2003 - - Germline - - - - - Johan den Dunnen
+/. p.? c.-14-961_-14-806TG[16[TCTG[9]CCTG[(exp)] TG[16[TCTG[9]CCTG[(exp)] r.? 1i - pathogenic (dominant) g.128891420_128891575CAGG[(exp)]CAGA[9]CA[16] - expanded - CNBP_000027 - PubMed: Liquori 2003 - - Germline - - - - - Johan den Dunnen
+/. p.? c.-14-961_-14-806TG[16[TCTG[9]CCTG[(exp)] TG[16[TCTG[9]CCTG[(exp)] r.? 1i - pathogenic (dominant) g.128891420_128891575CAGG[(exp)]CAGA[9]CA[16] - expanded - CNBP_000027 - PubMed: Liquori 2003 - - Germline - - - - - Johan den Dunnen
+/. p.? c.-14-961_-14-806TG[16[TCTG[9]CCTG[(exp)] TG[16[TCTG[9]CCTG[(exp)] r.? 1i - pathogenic (dominant) g.128891420_128891575CAGG[(exp)]CAGA[9]CA[16] - expanded - CNBP_000027 - PubMed: Liquori 2003 - - Germline - - - - - Johan den Dunnen
+/. p.? c.-14-961_-14-806TG[16[TCTG[9]CCTG[(exp)] TG[16[TCTG[9]CCTG[(exp)] r.? 1i - pathogenic (dominant) g.128891420_128891575CAGG[(exp)]CAGA[9]CA[16] - expanded - CNBP_000027 - PubMed: Liquori 2003 - - Germline - - - - - Johan den Dunnen
+/. p.? c.-14-961_-14-806TG[16[TCTG[9]CCTG[(exp)] TG[16[TCTG[9]CCTG[(exp)] r.? 1i - pathogenic (dominant) g.128891420_128891575CAGG[(exp)]CAGA[9]CA[16] - expanded - CNBP_000027 - PubMed: Liquori 2003 - - Germline - - - - - Johan den Dunnen
+/. p.? c.-14-961_-14-806TG[16[TCTG[9]CCTG[(exp)] TG[16[TCTG[9]CCTG[(exp)] r.? 1i - pathogenic (dominant) g.128891420_128891575CAGG[(exp)]CAGA[9]CA[16] - expanded - CNBP_000027 - PubMed: Liquori 2003 - - Germline - - - - - Johan den Dunnen
+/. p.? c.-14-961_-14-806TG[16[TCTG[9]CCTG[(exp)] TG[16[TCTG[9]CCTG[(exp)] r.? 1i - pathogenic (dominant) g.128891420_128891575CAGG[(exp)]CAGA[9]CA[16] - expanded - CNBP_000027 - PubMed: Liquori 2003 - - Germline - - - - - Johan den Dunnen
+/. p.? c.-14-961_-14-806TG[16[TCTG[9]CCTG[(exp)] TG[16[TCTG[9]CCTG[(exp)] r.? 1i - pathogenic (dominant) g.128891420_128891575CAGG[(exp)]CAGA[9]CA[16] - expanded - CNBP_000027 - PubMed: Liquori 2003 - - Germline - - - - - Johan den Dunnen
+/. p.? c.-14-961_-14-806TG[16[TCTG[9]CCTG[(exp)] TG[16[TCTG[9]CCTG[(exp)] r.? 1i - pathogenic (dominant) g.128891420_128891575CAGG[(exp)]CAGA[9]CA[16] - expanded - CNBP_000027 - PubMed: Liquori 2003 - - Germline - - - - - Johan den Dunnen
+/. p.? c.-14-961_-14-806TG[16[TCTG[9]CCTG[(exp)] TG[16[TCTG[9]CCTG[(exp)] r.? 1i - pathogenic (dominant) g.128891420_128891575CAGG[(exp)]CAGA[9]CA[16] - expanded - CNBP_000027 - PubMed: Liquori 2003 - - Germline - - - - - Johan den Dunnen
+/. p.? c.-14-961_-14-806TG[16[TCTG[9]CCTG[(exp)] TG[16[TCTG[9]CCTG[(exp)] r.? 1i - pathogenic (dominant) g.128891420_128891575CAGG[(exp)]CAGA[9]CA[16] - expanded - CNBP_000027 - PubMed: Liquori 2003 - - Germline - - - - - Johan den Dunnen
+/. p.? c.-14-961_-14-806TG[16[TCTG[9]CCTG[(exp)] TG[16[TCTG[9]CCTG[(exp)] r.? 1i - pathogenic (dominant) g.128891420_128891575CAGG[(exp)]CAGA[9]CA[16] - expanded - CNBP_000027 - PubMed: Liquori 2003 - - Germline - - - - - Johan den Dunnen
+/. p.? c.-14-961_-14-806TG[16[TCTG[9]CCTG[(exp)] TG[16[TCTG[9]CCTG[(exp)] r.? 1i - pathogenic (dominant) g.128891420_128891575CAGG[(exp)]CAGA[9]CA[16] - expanded - CNBP_000027 - PubMed: Liquori 2003 - - Germline - - - - - Johan den Dunnen
+/. p.? c.-14-961_-14-806TG[16[TCTG[9]CCTG[(exp)] TG[16[TCTG[9]CCTG[(exp)] r.? 1i - pathogenic (dominant) g.128891420_128891575CAGG[(exp)]CAGA[9]CA[16] - expanded - CNBP_000027 - PubMed: Liquori 2003 - - Germline - - - - - Johan den Dunnen
+/. p.? c.-14-961_-14-806TG[16[TCTG[9]CCTG[(exp)] TG[16[TCTG[9]CCTG[(exp)] r.? 1i - pathogenic (dominant) g.128891420_128891575CAGG[(exp)]CAGA[9]CA[16] - expanded - CNBP_000027 - PubMed: Liquori 2003 - - Germline - - - - - Johan den Dunnen
+/. p.? c.-14-961_-14-806TG[16[TCTG[9]CCTG[(exp)] TG[16[TCTG[9]CCTG[(exp)] r.? 1i - pathogenic (dominant) g.128891420_128891575CAGG[(exp)]CAGA[9]CA[16] - expanded - CNBP_000027 - PubMed: Liquori 2003 - - Germline - - - - - Johan den Dunnen
+/. p.? c.-14-961_-14-806TG[16[TCTG[9]CCTG[(exp)] TG[16[TCTG[9]CCTG[(exp)] r.? 1i - pathogenic (dominant) g.128891420_128891575CAGG[(exp)]CAGA[9]CA[16] - expanded - CNBP_000027 - PubMed: Liquori 2003 - - Germline - - - - - Johan den Dunnen
+/. p.? c.-14-961_-14-806TG[16[TCTG[9]CCTG[(exp)] TG[16[TCTG[9]CCTG[(exp)] r.? 1i - pathogenic (dominant) g.128891420_128891575CAGG[(exp)]CAGA[9]CA[16] - expanded - CNBP_000027 - PubMed: Liquori 2003 - - Germline - - - - - Johan den Dunnen
+/. p.? c.-14-961_-14-806TG[16[TCTG[9]CCTG[(exp)] TG[16[TCTG[9]CCTG[(exp)] r.? 1i - pathogenic (dominant) g.128891420_128891575CAGG[(exp)]CAGA[9]CA[16] - expanded - CNBP_000027 - PubMed: Liquori 2003 - - Germline - - - - - Johan den Dunnen
+/. p.? c.-14-961_-14-806TG[16[TCTG[9]CCTG[(exp)] TG[16[TCTG[9]CCTG[(exp)] r.? 1i - pathogenic (dominant) g.128891420_128891575CAGG[(exp)]CAGA[9]CA[16] - expanded - CNBP_000027 - PubMed: Liquori 2003 - - Germline - - - - - Johan den Dunnen
+/. p.? c.-14-961_-14-806TG[16[TCTG[9]CCTG[(exp)] TG[16[TCTG[9]CCTG[(exp)] r.? 1i - pathogenic (dominant) g.128891420_128891575CAGG[(exp)]CAGA[9]CA[16] - expanded - CNBP_000027 - PubMed: Liquori 2003 - - Germline - - - - - Johan den Dunnen
+/. p.? c.-14-961_-14-806TG[16[TCTG[9]CCTG[(exp)] TG[16[TCTG[9]CCTG[(exp)] r.? 1i - pathogenic (dominant) g.128891420_128891575CAGG[(exp)]CAGA[9]CA[16] - expanded - CNBP_000027 - PubMed: Liquori 2003 - - Germline - - - - - Johan den Dunnen
+/. p.? c.-14-961_-14-806TG[16[TCTG[9]CCTG[(exp)] TG[16[TCTG[9]CCTG[(exp)] r.? 1i - pathogenic (dominant) g.128891420_128891575CAGG[(exp)]CAGA[9]CA[16] - expanded - CNBP_000027 - PubMed: Liquori 2003 - - Germline - - - - - Johan den Dunnen
+/. p.? c.-14-961_-14-806TG[16[TCTG[9]CCTG[(exp)] TG[16[TCTG[9]CCTG[(exp)] r.? 1i - pathogenic (dominant) g.128891420_128891575CAGG[(exp)]CAGA[9]CA[16] - expanded - CNBP_000027 - PubMed: Liquori 2003 - - Germline - - - - - Johan den Dunnen
+/. p.? c.-14-961_-14-806TG[16[TCTG[9]CCTG[(exp)] TG[16[TCTG[9]CCTG[(exp)] r.? 1i - pathogenic (dominant) g.128891420_128891575CAGG[(exp)]CAGA[9]CA[16] - expanded - CNBP_000027 - PubMed: Liquori 2003 - - Germline - - - - - Johan den Dunnen
+/. p.? c.-14-961_-14-806TG[16[TCTG[9]CCTG[(exp)] TG[16[TCTG[9]CCTG[(exp)] r.? 1i - pathogenic (dominant) g.128891420_128891575CAGG[(exp)]CAGA[9]CA[16] - expanded - CNBP_000027 - PubMed: Liquori 2003 - - Germline - - - - - Johan den Dunnen
+/. p.? c.-14-961_-14-806TG[16[TCTG[9]CCTG[(exp)] TG[16[TCTG[9]CCTG[(exp)] r.? 1i - pathogenic (dominant) g.128891420_128891575CAGG[(exp)]CAGA[9]CA[16] - expanded - CNBP_000027 - PubMed: Liquori 2003 - - Germline - - - - - Johan den Dunnen
+/. p.? c.-14-961_-14-806TG[16[TCTG[9]CCTG[(exp)] TG[16[TCTG[9]CCTG[(exp)] r.? 1i - pathogenic (dominant) g.128891420_128891575CAGG[(exp)]CAGA[9]CA[16] - expanded - CNBP_000027 - PubMed: Liquori 2003 - - Germline - - - - - Johan den Dunnen
+/. p.? c.-14-961_-14-806TG[16[TCTG[9]CCTG[(exp)] TG[16[TCTG[9]CCTG[(exp)] r.? 1i - pathogenic (dominant) g.128891420_128891575CAGG[(exp)]CAGA[9]CA[16] - expanded - CNBP_000027 - PubMed: Liquori 2003 - - Germline - - - - - Johan den Dunnen
+/. p.? c.-14-961_-14-806TG[16[TCTG[9]CCTG[(exp)] TG[16[TCTG[9]CCTG[(exp)] r.? 1i - pathogenic (dominant) g.128891420_128891575CAGG[(exp)]CAGA[9]CA[16] - expanded - CNBP_000027 - PubMed: Liquori 2003 - - Germline - - - - - Johan den Dunnen
+/. p.? c.-14-961_-14-806TG[16[TCTG[9]CCTG[(exp)] TG[16[TCTG[9]CCTG[(exp)] r.? 1i - pathogenic (dominant) g.128891420_128891575CAGG[(exp)]CAGA[9]CA[16] - expanded - CNBP_000027 - PubMed: Liquori 2003 - - Germline - - - - - Johan den Dunnen
+/. p.? c.-14-961_-14-806TG[16[TCTG[9]CCTG[(exp)] TG[16[TCTG[9]CCTG[(exp)] r.? 1i - pathogenic (dominant) g.128891420_128891575CAGG[(exp)]CAGA[9]CA[16] - expanded - CNBP_000027 - PubMed: Liquori 2003 - - Germline - - - - - Johan den Dunnen
+/. p.? c.-14-961_-14-806TG[16[TCTG[9]CCTG[(exp)] TG[16[TCTG[9]CCTG[(exp)] r.? 1i - pathogenic (dominant) g.128891420_128891575CAGG[(exp)]CAGA[9]CA[16] - expanded - CNBP_000027 - PubMed: Liquori 2003 - - Germline - - - - - Johan den Dunnen
+/. p.? c.-14-961_-14-806TG[16[TCTG[9]CCTG[(exp)] TG[16[TCTG[9]CCTG[(exp)] r.? 1i - pathogenic (dominant) g.128891420_128891575CAGG[(exp)]CAGA[9]CA[16] - expanded - CNBP_000027 - PubMed: Liquori 2003 - - Germline - - - - - Johan den Dunnen
+/. p.? c.-14-961_-14-806TG[16[TCTG[9]CCTG[(exp)] TG[16[TCTG[9]CCTG[(exp)] r.? 1i - pathogenic (dominant) g.128891420_128891575CAGG[(exp)]CAGA[9]CA[16] - expanded - CNBP_000027 - PubMed: Liquori 2003 - - Germline - - - - - Johan den Dunnen
+/. p.? c.-14-961_-14-806TG[16[TCTG[9]CCTG[(exp)] TG[16[TCTG[9]CCTG[(exp)] r.? 1i - pathogenic (dominant) g.128891420_128891575CAGG[(exp)]CAGA[9]CA[16] - expanded - CNBP_000027 - PubMed: Liquori 2003 - - Germline - - - - - Johan den Dunnen
+/. p.? c.-14-961_-14-806TG[16[TCTG[9]CCTG[(exp)] TG[16[TCTG[9]CCTG[(exp)] r.? 1i - pathogenic (dominant) g.128891420_128891575CAGG[(exp)]CAGA[9]CA[16] - expanded - CNBP_000027 - PubMed: Liquori 2003 - - Germline - - - - - Johan den Dunnen
+/. p.? c.-14-961_-14-806TG[16[TCTG[9]CCTG[(exp)] TG[16[TCTG[9]CCTG[(exp)] r.? 1i - pathogenic (dominant) g.128891420_128891575CAGG[(exp)]CAGA[9]CA[16] - expanded - CNBP_000027 - PubMed: Liquori 2003 - - Germline - - - - - Johan den Dunnen
+/. p.? c.-14-961_-14-806TG[16[TCTG[9]CCTG[(exp)] TG[16[TCTG[9]CCTG[(exp)] r.? 1i - pathogenic (dominant) g.128891420_128891575CAGG[(exp)]CAGA[9]CA[16] - expanded - CNBP_000027 - PubMed: Liquori 2003 - - Germline - - - - - Johan den Dunnen
+/. p.? c.-14-961_-14-806TG[16[TCTG[9]CCTG[(exp)] TG[16[TCTG[9]CCTG[(exp)] r.? 1i - pathogenic (dominant) g.128891420_128891575CAGG[(exp)]CAGA[9]CA[16] - expanded - CNBP_000027 - PubMed: Liquori 2003 - - Germline - - - - - Johan den Dunnen
+/. p.? c.-14-961_-14-806TG[16[TCTG[9]CCTG[(exp)] TG[16[TCTG[9]CCTG[(exp)] r.? 1i - pathogenic (dominant) g.128891420_128891575CAGG[(exp)]CAGA[9]CA[16] - expanded - CNBP_000027 - PubMed: Liquori 2003 - - Germline - - - - - Johan den Dunnen
+/. p.? c.-14-961_-14-806TG[16[TCTG[9]CCTG[(exp)] TG[16[TCTG[9]CCTG[(exp)] r.? 1i - pathogenic (dominant) g.128891420_128891575CAGG[(exp)]CAGA[9]CA[16] - expanded - CNBP_000027 - PubMed: Liquori 2003 - - Germline - - - - - Johan den Dunnen
+/. p.? c.-14-961_-14-806TG[16[TCTG[9]CCTG[(exp)] TG[16[TCTG[9]CCTG[(exp)] r.? 1i - pathogenic (dominant) g.128891420_128891575CAGG[(exp)]CAGA[9]CA[16] - expanded - CNBP_000027 - PubMed: Liquori 2003 - - Germline - - - - - Johan den Dunnen
+/. p.? c.-14-961_-14-806TG[16[TCTG[9]CCTG[(exp)] TG[16[TCTG[9]CCTG[(exp)] r.? 1i - pathogenic (dominant) g.128891420_128891575CAGG[(exp)]CAGA[9]CA[16] - expanded - CNBP_000027 - PubMed: Liquori 2003 - - Germline - - - - - Johan den Dunnen
+/. p.? c.-14-961_-14-806TG[16[TCTG[9]CCTG[(exp)] TG[16[TCTG[9]CCTG[(exp)] r.? 1i - pathogenic (dominant) g.128891420_128891575CAGG[(exp)]CAGA[9]CA[16] - expanded - CNBP_000027 - PubMed: Liquori 2003 - - Germline - - - - - Johan den Dunnen
+/. - c.(-14-961_-14-806)insCCTG[14380] CCTG[14380] r.? p.? - pathogenic (dominant) g.(128891420_128891575)insCAGG[14380] g.129172577_129172732insCAGG[14380] CCTG[14380] - CNBP_000049 - PubMed: Granger 2022 - - Germline - - - - - Johan den Dunnen
+/. - c.(-14-961_-14-806)insCCTG[15370] CCTG[15370] r.? p.? - pathogenic (dominant) g.(128891420_128891575)insCAGG[15370] g.129172577_129172732insCAGG[15370] CCTG[15370] - CNBP_000051 - PubMed: Granger 2022 - - Germline - - - - - Johan den Dunnen
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