Full data view for gene DHTKD1

Information The variants shown are described using the NM_018706.5 transcript reference sequence.

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

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-?/. - c.33G>A r.(?) p.(Arg11=) Unknown - likely benign g.12111065G>A g.12069066G>A DHTKD1(NM_018706.7):c.33G>A (p.R11=) - DHTKD1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.33G>A r.(?) p.(Arg11=) Unknown - likely benign g.12111065G>A - DHTKD1(NM_018706.7):c.33G>A (p.R11=) - DHTKD1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.39C>T r.(?) p.(Leu13=) Unknown - likely benign g.12111071C>T g.12069072C>T DHTKD1(NM_018706.6):c.39C>T (p.L13=) - DHTKD1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.58= r.(=) p.(Leu20=) Unknown - benign g.12111090T>C g.12069091T>C DHTKD1(NM_018706.7):c.58T>C (p.F20L) - DHTKD1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.58= r.(=) p.(Leu20=) Unknown - benign g.12111090T>C g.12069091T>C DHTKD1(NM_018706.7):c.58T>C (p.F20L) - DHTKD1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.104C>T r.(?) p.(Pro35Leu) Unknown - VUS g.12111136C>T - DHTKD1(NM_018706.6):c.104C>T (p.(Pro35Leu)), DHTKD1(NM_018706.7):c.104C>T (p.P35L) - DHTKD1_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.104C>T r.(?) p.(Pro35Leu) Unknown - likely benign g.12111136C>T - DHTKD1(NM_018706.6):c.104C>T (p.(Pro35Leu)), DHTKD1(NM_018706.7):c.104C>T (p.P35L) - DHTKD1_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.209C>G r.(?) p.(Ala70Gly) Unknown - benign g.12123525C>G g.12081526C>G DHTKD1(NM_018706.5):c.209C>G (p.(Ala70Gly)), DHTKD1(NM_018706.7):c.209C>G (p.A70G) - DHTKD1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.209C>G r.(?) p.(Ala70Gly) Unknown - likely benign g.12123525C>G g.12081526C>G DHTKD1(NM_018706.5):c.209C>G (p.(Ala70Gly)), DHTKD1(NM_018706.7):c.209C>G (p.A70G) - DHTKD1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.234C>T r.(?) p.(Thr78=) Unknown - likely benign g.12123550C>T - DHTKD1(NM_018706.6):c.234C>T (p.T78=) - DHTKD1_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.311G>T r.(?) p.(Gly104Val) Unknown - VUS g.12126539G>T - DHTKD1(NM_018706.6):c.311G>T (p.(Gly104Val)) - DHTKD1_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.380G>A r.(?) p.(Cys127Tyr) Unknown - VUS g.12126608G>A - DHTKD1(NM_018706.6):c.380G>A (p.(Cys127Tyr)) - DHTKD1_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.488G>A r.(?) p.(Arg163Gln) Unknown - VUS g.12126716G>A g.12084717G>A DHTKD1(NM_018706.6):c.488G>A (p.R163Q), DHTKD1(NM_018706.7):c.488G>A (p.R163Q) - DHTKD1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.488G>A r.(?) p.(Arg163Gln) Unknown - likely benign g.12126716G>A g.12084717G>A DHTKD1(NM_018706.6):c.488G>A (p.R163Q), DHTKD1(NM_018706.7):c.488G>A (p.R163Q) - DHTKD1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.488G>A r.(?) p.(Arg163Gln) Unknown - likely benign g.12126716G>A g.12084717G>A DHTKD1(NM_018706.6):c.488G>A (p.R163Q), DHTKD1(NM_018706.7):c.488G>A (p.R163Q) - DHTKD1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.488G>A r.(?) p.(Arg163Gln) Unknown - likely benign g.12126716G>A - DHTKD1(NM_018706.6):c.488G>A (p.R163Q), DHTKD1(NM_018706.7):c.488G>A (p.R163Q) - DHTKD1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.565C>T r.(?) p.(Arg189*) Unknown - likely pathogenic g.12129576C>T - DHTKD1(NM_018706.6):c.565C>T (p.R189*) - DHTKD1_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.566G>C r.(?) p.(Arg189Pro) Unknown - VUS g.12129577G>C g.12087578G>C DHTKD1(NM_018706.7):c.566G>C (p.R189P) - DHTKD1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.608A>C r.(?) p.(His203Pro) Unknown - likely benign g.12129619A>C g.12087620A>C DHTKD1(NM_018706.5):c.608A>C (p.(His203Pro)) - DHTKD1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.628G>T r.(?) p.(Ala210Ser) Unknown - benign g.12129639G>T g.12087640G>T DHTKD1(NM_018706.7):c.628G>T (p.A210S) - DHTKD1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.628G>T r.(?) p.(Ala210Ser) Unknown - likely benign g.12129639G>T g.12087640G>T DHTKD1(NM_018706.7):c.628G>T (p.A210S) - DHTKD1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.628G>T r.(?) p.(Ala210Ser) Unknown - likely benign g.12129639G>T - DHTKD1(NM_018706.7):c.628G>T (p.A210S) - DHTKD1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.645del r.(?) p.(Asp216MetfsTer12) Unknown - pathogenic g.12129656del - DHTKD1(NM_018706.7):c.645delT (p.D216Mfs*12) - DHTKD1_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.677G>A r.(?) p.(Arg226Lys) Unknown - VUS g.12129688G>A - DHTKD1(NM_018706.6):c.677G>A (p.R226K) - DHTKD1_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.700_701delinsGG r.(?) p.(Leu234Gly) Unknown - likely benign g.12129711_12129712delinsGG g.12087712_12087713delinsGG - - DHTKD1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.717+10C>T r.(=) p.(=) Unknown - likely benign g.12129738C>T - DHTKD1(NM_018706.7):c.717+10C>T - DHTKD1_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.728G>A r.(?) p.(Arg243His) Unknown - VUS g.12130995G>A g.12088996G>A DHTKD1(NM_018706.7):c.728G>A (p.R243H) - DHTKD1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.814T>G r.(?) p.(Tyr272Asp) Unknown - benign g.12131081T>G g.12089082T>G DHTKD1(NM_018706.7):c.814T>G (p.Y272D) - DHTKD1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.814T>G r.(?) p.(Tyr272Asp) Unknown - benign g.12131081T>G g.12089082T>G DHTKD1(NM_018706.7):c.814T>G (p.Y272D) - DHTKD1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.814T>G r.(?) p.(Tyr272Asp) Unknown - benign g.12131081T>G - DHTKD1(NM_018706.7):c.814T>G (p.Y272D) - DHTKD1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.841G>A r.(?) p.(Val281Met) Unknown - VUS g.12131108G>A - DHTKD1(NM_018706.7):c.841G>A (p.V281M) - DHTKD1_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.847A>G r.(?) p.(Met283Val) Unknown - VUS g.12131114A>G g.12089115A>G DHTKD1(NM_018706.6):c.847A>G (p.M283V), DHTKD1(NM_018706.7):c.847A>G (p.M283V) - DHTKD1_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.847A>G r.(?) p.(Met283Val) Unknown - likely benign g.12131114A>G - DHTKD1(NM_018706.6):c.847A>G (p.M283V), DHTKD1(NM_018706.7):c.847A>G (p.M283V) - DHTKD1_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.860C>A r.(?) p.(Pro287His) Unknown - likely pathogenic g.12131127C>A g.12089128C>A DHTKD1(NM_018706.5):c.860C>A (p.(Pro287His)) - DHTKD1_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.951C>T r.(?) p.(Asn317=) Unknown - benign g.12131218C>T g.12089219C>T DHTKD1(NM_018706.7):c.951C>T (p.N317=) - DHTKD1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.951C>T r.(?) p.(Asn317=) Unknown - benign g.12131218C>T g.12089219C>T DHTKD1(NM_018706.7):c.951C>T (p.N317=) - DHTKD1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.951C>T r.(?) p.(Asn317=) Unknown - benign g.12131218C>T - DHTKD1(NM_018706.7):c.951C>T (p.N317=) - DHTKD1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.967G>A r.(?) p.(Asp323Asn) Unknown - VUS g.12131234G>A - DHTKD1(NM_018706.7):c.967G>A (p.(Asp323Asn)) - DHTKD1_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.973G>A r.(?) p.(Val325Ile) Unknown - VUS g.12131240G>A - DHTKD1(NM_018706.7):c.973G>A (p.(Val325Ile)) - DHTKD1_000106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.987+10G>C r.(=) p.(=) Unknown - benign g.12131264G>C g.12089265G>C DHTKD1(NM_018706.7):c.987+10G>C - DHTKD1_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.988-11T>C r.(=) p.(=) Unknown - likely benign g.12133501T>C - DHTKD1(NM_018706.7):c.988-11T>C - DHTKD1_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1008C>G r.(?) p.(Phe336Leu) Unknown - VUS g.12133532C>G g.12091533C>G - - DHTKD1_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1041G>A r.(?) p.(=) Unknown - likely benign g.12133565G>A - DHTKD1(NM_018706.7):c.1041G>A (p.T347=) - DHTKD1_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1048A>G r.(?) p.(Asn350Asp) Unknown - benign g.12133572A>G g.12091573A>G DHTKD1(NM_018706.7):c.1048A>G (p.N350D) - DHTKD1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1079T>C r.(?) p.(Val360Ala) Unknown - benign g.12133603T>C g.12091604T>C DHTKD1(NM_018706.6):c.1079T>C (p.V360A), DHTKD1(NM_018706.7):c.1079T>C (p.V360A) - DHTKD1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1079T>C r.(?) p.(Val360Ala) Unknown - likely benign g.12133603T>C g.12091604T>C DHTKD1(NM_018706.6):c.1079T>C (p.V360A), DHTKD1(NM_018706.7):c.1079T>C (p.V360A) - DHTKD1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1079T>C r.(?) p.(Val360Ala) Unknown - VUS g.12133603T>C - DHTKD1(NM_018706.6):c.1079T>C (p.V360A), DHTKD1(NM_018706.7):c.1079T>C (p.V360A) - DHTKD1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1160-2A>C r.spl? p.? Unknown - likely pathogenic g.12136070A>C g.12094071A>C DHTKD1(NM_018706.7):c.1160-2A>C - DHTKD1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1185C>T r.(?) p.(Ile395=) Unknown - likely benign g.12136097C>T - DHTKD1(NM_018706.6):c.1185C>T (p.I395=) - DHTKD1_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1192A>C r.(?) p.(Asn398His) Unknown - VUS g.12136104A>C - DHTKD1(NM_018706.6):c.1192A>C (p.(Asn398His)) - DHTKD1_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1220G>A r.(?) p.(Arg407His) Unknown - VUS g.12136132G>A - DHTKD1(NM_018706.7):c.1220G>A (p.R407H, p.(Arg407His)) - DHTKD1_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1220G>A r.(?) p.(Arg407His) Unknown - VUS g.12136132G>A - DHTKD1(NM_018706.7):c.1220G>A (p.R407H, p.(Arg407His)) - DHTKD1_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1220G>A r.(?) p.(Arg407His) Unknown - VUS g.12136132G>A - DHTKD1(NM_018706.7):c.1220G>A (p.R407H, p.(Arg407His)) - DHTKD1_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1229G>A r.(?) p.(Arg410Gln) Unknown - VUS g.12136141G>A - DHTKD1(NM_018706.7):c.1229G>A (p.(Arg410Gln)) - DHTKD1_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1246C>T r.(?) p.(Gln416*) Unknown - pathogenic g.12136158C>T - DHTKD1(NM_018706.6):c.1246C>T (p.Q416*), DHTKD1(NM_018706.7):c.1246C>T (p.(Gln416Ter)) - DHTKD1_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1246C>T r.(?) p.(Gln416*) Unknown - VUS g.12136158C>T - DHTKD1(NM_018706.6):c.1246C>T (p.Q416*), DHTKD1(NM_018706.7):c.1246C>T (p.(Gln416Ter)) - DHTKD1_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1309G>T r.(?) p.(Glu437*) Parent #1 - pathogenic g.12136221G>T g.12094222G>T - - DHTKD1_000024 - PubMed: Dohrn 2017, Journal: Dohrn 2017 - - Germline - 1/612 cases - - - DNA SEQ, SEQ-NG - targeted multigene panel CMT 28902413-Pat3 PubMed: Dohrn 2017, Journal: Dohrn 2017 analysis 612 patients F - (Germany) - - - - - 1 Johan den Dunnen
+?/. - c.1309G>T r.(?) p.(Glu437Ter) Unknown - likely pathogenic g.12136221G>T g.12094222G>T DHTKD1(NM_018706.6):c.1309G>T (p.E437*), DHTKD1(NM_018706.7):c.1309G>T (p.(Glu437*), p.E437*) - DHTKD1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1309G>T r.(?) p.(Glu437Ter) Unknown - VUS g.12136221G>T g.12094222G>T DHTKD1(NM_018706.6):c.1309G>T (p.E437*), DHTKD1(NM_018706.7):c.1309G>T (p.(Glu437*), p.E437*) - DHTKD1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1309G>T r.(?) p.(Glu437Ter) Unknown - pathogenic g.12136221G>T - DHTKD1(NM_018706.6):c.1309G>T (p.E437*), DHTKD1(NM_018706.7):c.1309G>T (p.(Glu437*), p.E437*) - DHTKD1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1309G>T r.(?) p.(Glu437Ter) Unknown - pathogenic g.12136221G>T - DHTKD1(NM_018706.6):c.1309G>T (p.E437*), DHTKD1(NM_018706.7):c.1309G>T (p.(Glu437*), p.E437*) - DHTKD1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1363C>T r.(?) p.(Arg455Ter) Unknown - pathogenic g.12139687C>T g.12097688C>T DHTKD1(NM_018706.7):c.1363C>T (p.R455*) - DHTKD1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1364G>A r.(?) p.(Arg455Gln) Unknown - likely pathogenic g.12139688G>A g.12097689G>A DHTKD1(NM_018706.6):c.1364G>A (p.R455Q), DHTKD1(NM_018706.7):c.1364G>A (p.R455Q, p.(Arg455Gln)) - DHTKD1_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1364G>A r.(?) p.(Arg455Gln) Unknown - VUS g.12139688G>A g.12097689G>A DHTKD1(NM_018706.6):c.1364G>A (p.R455Q), DHTKD1(NM_018706.7):c.1364G>A (p.R455Q, p.(Arg455Gln)) - DHTKD1_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1364G>A r.(?) p.(Arg455Gln) Unknown - VUS g.12139688G>A - DHTKD1(NM_018706.6):c.1364G>A (p.R455Q), DHTKD1(NM_018706.7):c.1364G>A (p.R455Q, p.(Arg455Gln)) - DHTKD1_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1364G>A r.(?) p.(Arg455Gln) Unknown - VUS g.12139688G>A - DHTKD1(NM_018706.6):c.1364G>A (p.R455Q), DHTKD1(NM_018706.7):c.1364G>A (p.R455Q, p.(Arg455Gln)) - DHTKD1_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1399A>T r.(?) p.(Ile467Phe) Unknown - VUS g.12139723A>T g.12097724A>T DHTKD1(NM_018706.6):c.1399A>T (p.I467F) - DHTKD1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1419G>A r.(?) p.(Thr473=) Unknown - likely benign g.12139743G>A - DHTKD1(NM_018706.7):c.1419G>A (p.T473=) - DHTKD1_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1459A>C r.(?) p.(Lys487Gln) Unknown - VUS g.12139783A>C - DHTKD1(NM_018706.6):c.1459A>C (p.(Lys487Gln)) - DHTKD1_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1471C>T r.(?) p.(His491Tyr) Unknown - VUS g.12139795C>T g.12097796C>T DHTKD1(NM_018706.5):c.1471C>T (p.(His491Tyr)) - DHTKD1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1497G>T r.(?) p.(Arg499Ser) Unknown - likely benign g.12139821G>T g.12097822G>T DHTKD1(NM_018706.5):c.1497G>T (p.(Arg499Ser)) - DHTKD1_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1543C>T r.(?) p.(Pro515Ser) Unknown - VUS g.12139867C>T - DHTKD1(NM_018706.6):c.1543C>T (p.P515S) - DHTKD1_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1560C>T r.(?) p.(Thr520=) Unknown - benign g.12139884C>T g.12097885C>T DHTKD1(NM_018706.7):c.1560C>T (p.T520=) - DHTKD1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1594C>T r.(?) p.(Arg532Trp) Unknown - VUS g.12139918C>T - DHTKD1(NM_018706.7):c.1594C>T (p.R532W) - DHTKD1_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1617A>G r.(?) p.(Val539=) Unknown - likely benign g.12139941A>G - DHTKD1(NM_018706.6):c.1617A>G (p.V539=) - DHTKD1_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1671+1G>A r.spl? p.? Unknown - likely pathogenic g.12139996G>A - DHTKD1(NM_018706.6):c.1671+1G>A - DHTKD1_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1695C>T r.(?) p.(Asp565=) Unknown - likely benign g.12142200C>T g.12100201C>T DHTKD1(NM_018706.7):c.1695C>T (p.D565=) - DHTKD1_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1719C>T r.(?) p.(Thr573=) Unknown - likely benign g.12142224C>T g.12100225C>T DHTKD1(NM_018706.7):c.1719C>T (p.T573=) - DHTKD1_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1720G>A r.(?) p.(Ala574Thr) Unknown - VUS g.12142225G>A - DHTKD1(NM_018706.7):c.1720G>A (p.A574T) - DHTKD1_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1742C>G r.(?) p.(Ser581Cys) Unknown - VUS g.12142247C>G g.12100248C>G DHTKD1(NM_018706.7):c.1742C>G (p.S581C) - DHTKD1_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1756+2T>G r.spl? p.? Unknown - VUS g.12142263T>G - DHTKD1(NM_018706.7):c.1756+2T>G - DHTKD1_000107 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1756+5G>T r.spl? p.? Unknown - likely benign g.12142266G>T - DHTKD1(NM_018706.7):c.1756+5G>T - DHTKD1_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1756+16T>C r.(=) p.(=) Unknown - benign g.12142277T>C - DHTKD1(NM_018706.7):c.1756+16T>C - DHTKD1_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1756+18_1756+22dup r.(=) p.(=) Unknown - benign g.12142279_12142283dup - DHTKD1(NM_018706.7):c.1756+18_1756+22dupTTTTT - DHTKD1_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1756+22dup r.(=) p.(=) Unknown - benign g.12142283dup g.12100284dup DHTKD1(NM_018706.7):c.1756+22dupT - DHTKD1_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1769G>T r.(?) p.(Arg590Leu) Unknown - VUS g.12143053G>T g.12101054G>T DHTKD1(NM_018706.7):c.1769G>T (p.R590L) - DHTKD1_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1769G>T r.(?) p.(Arg590Leu) Unknown - VUS g.12143053G>T - DHTKD1(NM_018706.7):c.1769G>T (p.R590L) - DHTKD1_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1769G>T r.(?) p.(Arg590Leu) Unknown - likely benign g.12143053G>T - DHTKD1(NM_018706.7):c.1769G>T (p.R590L) - DHTKD1_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1793G>A r.(?) p.(Arg598His) Unknown - VUS g.12143077G>A - DHTKD1(NM_018706.6):c.1793G>A (p.(Arg598His)) - DHTKD1_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1821C>A r.(?) p.(Ile607=) Unknown - benign g.12143105C>A g.12101106C>A DHTKD1(NM_018706.7):c.1821C>A (p.I607=) - DHTKD1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1821C>G r.(?) p.(Ile607Met) Unknown - benign g.12143105C>G g.12101106C>G DHTKD1(NM_018706.7):c.1821C>G (p.I607M) - DHTKD1_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1821C>G r.(?) p.(Ile607Met) Unknown - benign g.12143105C>G g.12101106C>G DHTKD1(NM_018706.7):c.1821C>G (p.I607M) - DHTKD1_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1821C>G r.(?) p.(Ile607Met) Unknown - benign g.12143105C>G - DHTKD1(NM_018706.7):c.1821C>G (p.I607M) - DHTKD1_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1911= r.(=) p.(Pro637=) Unknown - benign g.12148259A>C g.12106260A>C DHTKD1(NM_018706.7):c.1911A>C (p.P637=) - DHTKD1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1911= r.(=) p.(Pro637=) Unknown - benign g.12148259A>C g.12106260A>C DHTKD1(NM_018706.7):c.1911A>C (p.P637=) - DHTKD1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1927G>A r.(?) p.(Val643Ile) Unknown - VUS g.12148275G>A - DHTKD1(NM_018706.7):c.1927G>A (p.(Val643Ile)) - DHTKD1_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1927G>A r.(?) p.(Val643Ile) Unknown - VUS g.12148275G>A - DHTKD1(NM_018706.7):c.1927G>A (p.(Val643Ile)) - DHTKD1_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1938= r.(=) p.(Phe646=) Unknown - benign g.12148286T>C g.12106287T>C DHTKD1(NM_018706.7):c.1938T>C (p.F646=) - DHTKD1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1938= r.(=) p.(Phe646=) Unknown - benign g.12148286T>C g.12106287T>C DHTKD1(NM_018706.7):c.1938T>C (p.F646=) - DHTKD1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1978C>G r.(?) p.(Leu660Val) Unknown - likely benign g.12148326C>G - DHTKD1(NM_018706.6):c.1978C>G (p.L660V, p.(Leu660Val)) - DHTKD1_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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