Full data view for gene CTDP1

This database is one of the gene variant databases from the "Leiden Muscular Dystrophy pages" (LMDp).
Information The variants shown are described using the NM_004715.4 transcript reference sequence.

146 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.-29077284_*501390del r.0? p.0? Unknown - pathogenic g.48362664_78015180del - - - ATP8B1_000025 mosaicism, hemizygous in 0.46 cells PubMed: DDDS 2015, Journal: DDDS 2015 - - Somatic - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - - Decipher - 1 Johan den Dunnen
./. - c.-598303_*563458del r.0? p.0? Paternal (confirmed) - pathogenic g.76841645_78077248del - - - TXNL4A_000009 1.235 Mb deletion PubMed: Wieczorek 2014, Journal: Wieczorek 2014 - - Germline yes - - - - DNA SEQ, arrayCGH, MLPA - - BMKS 25434003-FamBMKS007 PubMed: Wieczorek 2014, Journal: Wieczorek 2014 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents M no United Kingdom (Great Britain) - - - - - 2 Johan den Dunnen
./. - c.-585174_*563458del r.0? p.0? Parent #1 - pathogenic g.76854774_78077248del - - del(18)(q23_qter) TXNL4A_000000 1.164 Mb deletion PubMed: Wieczorek 2014, Journal: Wieczorek 2014 - - Germline - - - - - DNA SEQ, SEQ-NG, arraySNP, MLPA - - BMKS 25434003-FamBMKS004 PubMed: Wieczorek 2014, Journal: Wieczorek 2014 2-generation family, 1 affected, unaffected heterozygous carrier parents F no Viet Nam - - - - - 1 Johan den Dunnen
-/. - c.-104G>T r.(?) p.(=) Unknown - benign g.77439844G>T g.79679844G>T CTDP1(NM_004715.5):c.-104G>T - CTDP1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.150C>G r.(?) p.(Ala50=) Unknown - benign g.77440097C>G g.79680097C>G CTDP1(NM_004715.4):c.150C>G (p.A50=), CTDP1(NM_048368.4):c.150C>G (p.A50=) - CTDP1_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.150C>G r.(?) p.(Ala50=) Unknown - benign g.77440097C>G - CTDP1(NM_004715.4):c.150C>G (p.A50=), CTDP1(NM_048368.4):c.150C>G (p.A50=) - CTDP1_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.181T>G r.(?) p.(Ser61Ala) Unknown - benign g.77440128T>G g.79680128T>G CTDP1(NM_004715.5):c.181T>G (p.S61A) - CTDP1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.186G>C r.(?) p.(Gly62=) Unknown - benign g.77440133G>C g.79680133G>C CTDP1(NM_004715.5):c.186G>C (p.G62=) - CTDP1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.213G>C r.(?) p.(Gly71=) Unknown - likely benign g.77440160G>C g.79680160G>C CTDP1(NM_001318511.2):c.213G>C (p.G71=), CTDP1(NM_004715.4):c.213G>C (p.G71=), CTDP1(NM_004715.5):c.213G>C (p.G71=), CTDP1(NM_048368.4):c.213G>C ...) - CTDP1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.213G>C r.(?) p.(Gly71=) Unknown - likely benign g.77440160G>C g.79680160G>C CTDP1(NM_001318511.2):c.213G>C (p.G71=), CTDP1(NM_004715.4):c.213G>C (p.G71=), CTDP1(NM_004715.5):c.213G>C (p.G71=), CTDP1(NM_048368.4):c.213G>C ...) - CTDP1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.280C>A r.(?) p.(Leu94Met) Unknown - VUS g.77440227C>A g.79680227C>A CTDP1(NM_001202504.1):c.-1334C>A (p.(=)) - CTDP1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.297C>A r.(?) p.(Gly99=) Unknown - likely benign g.77440244C>A g.79680244C>A CTDP1(NM_004715.4):c.297C>A (p.G99=) - CTDP1_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.301G>A r.(?) p.(Val101Met) Unknown - likely benign g.77440248G>A - CTDP1(NM_004715.5):c.301G>A (p.(Val101Met)) - CTDP1_000110 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.309C>T r.(?) p.(Ala103=) Unknown - likely benign g.77440256C>T g.79680256C>T CTDP1(NM_004715.5):c.309C>T (p.A103=) - CTDP1_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.317C>T r.(?) p.(Ala106Val) Unknown - benign g.77455227C>T g.79695227C>T CTDP1(NM_004715.4):c.317C>T (p.A106V), CTDP1(NM_004715.5):c.317C>T (p.A106V) - CTDP1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.317C>T r.(?) p.(Ala106Val) Unknown - benign g.77455227C>T g.79695227C>T CTDP1(NM_004715.4):c.317C>T (p.A106V), CTDP1(NM_004715.5):c.317C>T (p.A106V) - CTDP1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.351G>A r.(?) p.(Pro117=) Unknown - benign g.77455261G>A g.79695261G>A CTDP1(NM_004715.4):c.351G>A (p.P117=), CTDP1(NM_004715.5):c.351G>A (p.P117=) - CTDP1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.351G>A r.(?) p.(Pro117=) Unknown - likely benign g.77455261G>A - CTDP1(NM_004715.4):c.351G>A (p.P117=), CTDP1(NM_004715.5):c.351G>A (p.P117=) - CTDP1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.398+10C>T r.(=) p.(=) Unknown - likely benign g.77455318C>T - CTDP1(NM_004715.5):c.398+10C>T - CTDP1_000111 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.431C>T r.(?) p.(Pro144Leu) Unknown - VUS g.77456009C>T g.79696009C>T CTDP1(NM_001202504.1):c.74C>T (p.(Pro25Leu)), CTDP1(NM_004715.4):c.431C>T (p.P144L) - CTDP1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.431C>T r.(?) p.(Pro144Leu) Unknown - VUS g.77456009C>T - CTDP1(NM_001202504.1):c.74C>T (p.(Pro25Leu)), CTDP1(NM_004715.4):c.431C>T (p.P144L) - CTDP1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.492+7C>T r.(=) p.(=) Unknown - benign g.77456077C>T - CTDP1(NM_004715.4):c.492+7C>T - CTDP1_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.527G>A r.(?) p.(Arg176Gln) Unknown - VUS g.77457894G>A - CTDP1(NM_048368.4):c.527G>A (p.R176Q) - CTDP1_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.576G>A r.(?) p.(Thr192=) Unknown - likely benign g.77457943G>A - CTDP1(NM_048368.4):c.576G>A (p.T192=) - CTDP1_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.668C>T r.(?) p.(Thr223Met) Unknown - VUS g.77464813C>T g.79704813C>T CTDP1(NM_004715.4):c.668C>T (p.T223M), CTDP1(NM_004715.5):c.668C>T (p.T223M, p.(Thr223Met)) - CTDP1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.668C>T r.(?) p.(Thr223Met) Unknown - VUS g.77464813C>T g.79704813C>T CTDP1(NM_004715.4):c.668C>T (p.T223M), CTDP1(NM_004715.5):c.668C>T (p.T223M, p.(Thr223Met)) - CTDP1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.668C>T r.(?) p.(Thr223Met) Unknown - VUS g.77464813C>T g.79704813C>T CTDP1(NM_004715.4):c.668C>T (p.T223M), CTDP1(NM_004715.5):c.668C>T (p.T223M, p.(Thr223Met)) - CTDP1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.668C>T r.(?) p.(Thr223Met) Unknown - VUS g.77464813C>T - CTDP1(NM_004715.4):c.668C>T (p.T223M), CTDP1(NM_004715.5):c.668C>T (p.T223M, p.(Thr223Met)) - CTDP1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.669G>A r.(?) p.(=) Unknown - likely benign g.77464814G>A - CTDP1(NM_048368.4):c.669G>A (p.T223=) - CTDP1_000113 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.708C>T r.(?) p.(Ile236=) Unknown - likely benign g.77464853C>T - CTDP1(NM_048368.4):c.708C>T (p.I236=) - CTDP1_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.729C>T r.(?) p.(His243=) Unknown - benign g.77464874C>T g.79704874C>T CTDP1(NM_004715.5):c.729C>T (p.H243=) - CTDP1_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.753G>A r.(?) p.(Leu251=) Unknown - likely benign g.77464898G>A g.79704898G>A CTDP1(NM_004715.4):c.753G>A (p.L251=), CTDP1(NM_004715.5):c.753G>A (p.L251=) - CTDP1_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.753G>A r.(?) p.(Leu251=) Unknown - likely benign g.77464898G>A g.79704898G>A CTDP1(NM_004715.4):c.753G>A (p.L251=), CTDP1(NM_004715.5):c.753G>A (p.L251=) - CTDP1_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.768C>T r.(?) p.(Ile256=) Unknown - likely benign g.77464913C>T g.79704913C>T CTDP1(NM_004715.4):c.768C>T (p.I256=) - CTDP1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.768C>T r.(?) p.(Ile256=) Unknown - likely benign g.77464913C>T - CTDP1(NM_004715.4):c.768C>T (p.I256=) - CTDP1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.863+10C>T r.(=) p.(=) Unknown - likely benign g.77470446C>T g.79710446C>T CTDP1(NM_004715.5):c.863+10C>T - CTDP1_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.863+15G>A r.(=) p.(=) Unknown - benign g.77470451G>A g.79710451G>A CTDP1(NM_004715.5):c.863+15G>A - CTDP1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.863+389C>T r.(=) p.(=) Unknown - pathogenic g.77470825C>T g.79710825C>T CTDP1(NM_004715.5):c.863+389C>T - CTDP1_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.863+389C>T r.(=) p.(=) Unknown - pathogenic g.77470825C>T g.79710825C>T CTDP1(NM_004715.5):c.863+389C>T - CTDP1_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.863+398C>T r.(=) p.(=) Unknown - benign g.77470834C>T g.79710834C>T CTDP1(NM_004715.5):c.863+398C>T - CTDP1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.863+484A>G r.(=) p.(=) Unknown - benign g.77470920A>G g.79710920A>G CTDP1(NM_004715.5):c.863+484A>G - CTDP1_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.892G>T r.(?) p.(Val298Phe) Unknown - VUS g.77473000G>T g.79713000G>T CTDP1(NM_004715.4):c.892G>T (p.V298F) - CTDP1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.978G>A r.(?) p.(Thr326=) Unknown - benign g.77473086G>A g.79713086G>A CTDP1(NM_004715.5):c.978G>A (p.T326=) - CTDP1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.978G>A r.(?) p.(Thr326=) Unknown - benign g.77473086G>A g.79713086G>A CTDP1(NM_004715.5):c.978G>A (p.T326=) - CTDP1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1019C>T r.(?) p.(Thr340Met) Unknown - benign g.77473127C>T g.79713127C>T CTDP1(NM_004715.5):c.1019C>T (p.T340M) - CTDP1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1019C>T r.(?) p.(Thr340Met) Unknown - likely benign g.77473127C>T g.79713127C>T - - CTDP1_000017 - PubMed: Li 2019 - rs2279103 Germline - - - - - DNA SEQ, SEQ-NG - gene panel CTRCT Fam4PatIV1 PubMed: Li 2019 4-generation family, 4 affected (2F, 2M) F - China - - - - - 4 Johan den Dunnen
-?/. - c.1019C>T r.(?) p.(Thr340Met) Unknown - likely benign g.77473127C>T g.79713127C>T - - CTDP1_000017 - PubMed: Li 2019 - rs2279103 Germline - - - - - DNA SEQ, SEQ-NG - gene panel CTRCT Fam5PatIV12 PubMed: Li 2019 6-generation family, 20 affected (9F, 11M) M - China - - - - - 20 Johan den Dunnen
-?/. - c.1023A>G r.(?) p.(Arg341=) Unknown - likely benign g.77473131A>G - CTDP1(NM_004715.4):c.1023A>G (p.R341=) - CTDP1_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1031-3T>C r.spl? p.? Unknown - likely benign g.77474488T>C g.79714488T>C CTDP1(NM_004715.4):c.1031-3T>C, CTDP1(NM_004715.5):c.1031-3T>C - CTDP1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1031-3T>C r.spl? p.? Unknown - likely benign g.77474488T>C g.79714488T>C CTDP1(NM_004715.4):c.1031-3T>C, CTDP1(NM_004715.5):c.1031-3T>C - CTDP1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1031-3T>C r.spl? p.? Unknown - likely benign g.77474488T>C g.79714488T>C CTDP1(NM_004715.4):c.1031-3T>C, CTDP1(NM_004715.5):c.1031-3T>C - CTDP1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1087G>T r.(?) p.(Glu363*) Unknown - pathogenic g.77474547G>T - CTDP1(NM_004715.4):c.1087G>T (p.E363*) - CTDP1_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1097C>T r.(?) p.(Thr366Met) Unknown - likely benign g.77474557C>T g.79714557C>T CTDP1(NM_004715.4):c.1097C>T (p.T366M) - CTDP1_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1124A>G r.(?) p.(Asn375Ser) Unknown - VUS g.77474584A>G g.79714584A>G CTDP1(NM_004715.4):c.1124A>G (p.N375S) - CTDP1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1145G>A r.(?) p.(Arg382Gln) Unknown - VUS g.77474605G>A g.79714605G>A CTDP1(NM_004715.4):c.1145G>A (p.R382Q), CTDP1(NM_004715.5):c.1145G>A (p.R382Q) - CTDP1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1145G>A r.(?) p.(Arg382Gln) Unknown - VUS g.77474605G>A g.79714605G>A CTDP1(NM_004715.4):c.1145G>A (p.R382Q), CTDP1(NM_004715.5):c.1145G>A (p.R382Q) - CTDP1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1166C>T r.(?) p.(Ala389Val) Unknown - benign g.77474626C>T - CTDP1(NM_048368.4):c.1166C>T (p.A389V) - CTDP1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1175C>G r.(?) p.(Pro392Arg) Unknown - VUS g.77474635C>G - CTDP1(NM_004715.4):c.1175C>G (p.P392R) - CTDP1_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1194C>T r.(?) p.(Pro398=) Unknown - benign g.77474654C>T g.79714654C>T CTDP1(NM_004715.5):c.1194C>T (p.P398=) - CTDP1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1219T>C r.(?) p.(Trp407Arg) Unknown - VUS g.77474679T>C g.79714679T>C CTDP1(NM_004715.5):c.1219T>C (p.W407R) - CTDP1_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1224C>T r.(?) p.(Pro408=) Unknown - VUS g.77474684C>T - CTDP1(NM_048368.4):c.1224C>T (p.P408=) - CTDP1_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1251A>G r.(?) p.(=) Unknown - benign g.77474711A>G - CTDP1(NM_048368.4):c.1251A>G (p.Q417=) - CTDP1_000107 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1311G>A r.(?) p.(Pro437=) Unknown - benign g.77474771G>A g.79714771G>A CTDP1(NM_004715.4):c.1311G>A (p.P437=), CTDP1(NM_004715.5):c.1311G>A (p.P437=) - CTDP1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1311G>A r.(?) p.(Pro437=) Unknown - likely benign g.77474771G>A - CTDP1(NM_004715.4):c.1311G>A (p.P437=), CTDP1(NM_004715.5):c.1311G>A (p.P437=) - CTDP1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1324G>C r.(?) p.(Ala442Pro) Unknown - VUS g.77474784G>C g.79714784G>C CTDP1(NM_004715.5):c.1324G>C (p.A442P) - CTDP1_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1337C>T r.(?) p.(Thr446Met) Unknown - VUS g.77474797C>T g.79714797C>T CTDP1(NM_001202504.1):c.980C>T (p.(Thr327Met)), CTDP1(NM_048368.4):c.1337C>T (p.T446M) - CTDP1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1337C>T r.(?) p.(Thr446Met) Unknown - VUS g.77474797C>T - CTDP1(NM_001202504.1):c.980C>T (p.(Thr327Met)), CTDP1(NM_048368.4):c.1337C>T (p.T446M) - CTDP1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1396G>A r.(?) p.(Gly466Ser) Unknown - VUS g.77474856G>A g.79714856G>A CTDP1(NM_004715.5):c.1396G>A (p.G466S) - CTDP1_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1461G>A r.(?) p.(Pro487=) Unknown - benign g.77474921G>A g.79714921G>A CTDP1(NM_004715.5):c.1461G>A (p.P487=) - CTDP1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1461G>A r.(?) p.(Pro487=) Unknown - benign g.77474921G>A g.79714921G>A CTDP1(NM_004715.5):c.1461G>A (p.P487=) - CTDP1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1487C>T r.(?) p.(Ala496Val) Unknown - VUS g.77474947C>T g.79714947C>T CTDP1(NM_048368.4):c.1487C>T (p.A496V) - CTDP1_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1515G>A r.(?) p.(Pro505=) Unknown - likely benign g.77474975G>A - CTDP1(NM_004715.4):c.1515G>A (p.P505=) - CTDP1_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1532C>T r.(?) p.(Pro511Leu) Unknown - likely benign g.77474992C>T - CTDP1(NM_004715.4):c.1532C>T (p.P511L) - CTDP1_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1571C>T r.(?) p.(Pro524Leu) Unknown - VUS g.77475031C>T - CTDP1(NM_004715.4):c.1571C>T (p.P524L) - CTDP1_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1600G>A r.(?) p.(Glu534Lys) Unknown - VUS g.77475060G>A g.79715060G>A CTDP1(NM_048368.4):c.1600G>A (p.E534K) - CTDP1_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1626C>T r.(?) p.(Cys542=) Unknown - likely benign g.77475086C>T - CTDP1(NM_004715.4):c.1626C>T (p.C542=), CTDP1(NM_048368.4):c.1626C>T (p.C542=) - CTDP1_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1626C>T r.(?) p.(Cys542=) Unknown - benign g.77475086C>T - CTDP1(NM_004715.4):c.1626C>T (p.C542=), CTDP1(NM_048368.4):c.1626C>T (p.C542=) - CTDP1_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1723A>G r.(?) p.(Ser575Gly) Unknown - VUS g.77475183A>G g.79715183A>G CTDP1(NM_004715.4):c.1723A>G (p.S575G), CTDP1(NM_048368.4):c.1723A>G (p.S575G) - CTDP1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1723A>G r.(?) p.(Ser575Gly) Unknown - VUS g.77475183A>G - CTDP1(NM_004715.4):c.1723A>G (p.S575G), CTDP1(NM_048368.4):c.1723A>G (p.S575G) - CTDP1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1746_1748del r.(?) p.(Glu582del) Unknown - benign g.77475206_77475208del g.79715206_79715208del CTDP1(NM_004715.5):c.1746_1748delGGA (p.E582del) - CTDP1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1746_1748dup r.(?) p.(Glu582dup) Unknown - benign g.77475206_77475208dup g.79715206_79715208dup CTDP1(NM_004715.5):c.1746_1748dupGGA (p.E582dup) - CTDP1_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1746_1748dup r.(?) p.(Glu582dup) Unknown - likely benign g.77475206_77475208dup g.79715206_79715208dup 1727_1728insGGA - CTDP1_000060 - PubMed: Li 2019 - rs35893234 Germline - - - - - DNA SEQ, SEQ-NG - gene panel CTRCT Fam1PatII1 PubMed: Li 2019 2-generation family, affected mother/son M - China - - - - - 2 Johan den Dunnen
-?/. - c.1746_1748dup r.(?) p.(Glu582dup) Unknown - likely benign g.77475206_77475208dup g.79715206_79715208dup 1727_1728insGGA - CTDP1_000060 - PubMed: Li 2019 - rs35893234 Germline - - - - - DNA SEQ, SEQ-NG - gene panel CTRCT Fam3PatIV1 PubMed: Li 2019 4-generation family, 5 affected (5F) F - China - - - - - 5 Johan den Dunnen
-?/. - c.1860G>A r.(?) p.(Pro620=) Unknown - likely benign g.77475320G>A g.79715320G>A CTDP1(NM_004715.4):c.1860G>A (p.P620=) - CTDP1_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1875C>T r.(?) p.(Ile625=) Unknown - likely benign g.77475335C>T g.79715335C>T CTDP1(NM_004715.4):c.1875C>T (p.I625=) - CTDP1_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1908C>T r.(?) p.(Asp636=) Unknown - benign g.77475368C>T g.79715368C>T CTDP1(NM_004715.5):c.1908C>T (p.D636=) - CTDP1_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1938G>A r.(?) p.(Pro646=) Unknown - likely benign g.77475398G>A g.79715398G>A CTDP1(NM_004715.4):c.1938G>A (p.P646=) - CTDP1_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1985C>T r.(?) p.(Ala662Val) Unknown - VUS g.77475445C>T - CTDP1(NM_004715.5):c.1985C>T (p.(Ala662Val)) - CTDP1_000114 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1995G>A r.(?) p.(Ala665=) Unknown - benign g.77475455G>A g.79715455G>A CTDP1(NM_004715.5):c.1995G>A (p.A665=) - CTDP1_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2008C>T r.(?) p.(Arg670Trp) Unknown - VUS g.77475468C>T g.79715468C>T CTDP1(NM_004715.5):c.2008C>T (p.R670W) - CTDP1_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2009G>A r.(?) p.(Arg670Gln) Unknown - VUS g.77475469G>A g.79715469G>A CTDP1(NM_001202504.1):c.1652G>A (p.(Arg551Gln)) - CTDP1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2028C>T r.(?) p.(Asp676=) Unknown - likely benign g.77475488C>T - CTDP1(NM_048368.4):c.2028C>T (p.D676=) - CTDP1_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2038A>G r.(?) p.(Arg680Gly) Unknown - VUS g.77475498A>G g.79715498A>G CTDP1(NM_001202504.1):c.1681A>G (p.(Arg561Gly)) - CTDP1_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2060C>T r.(?) p.(Ala687Val) Unknown - VUS g.77475520C>T - CTDP1(NM_004715.4):c.2060C>T (p.A687V) - CTDP1_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2068+1G>T r.spl? p.? Unknown - VUS g.77475529G>T - CTDP1(NM_004715.4):c.2068+1G>T - CTDP1_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2068+18G>A r.(=) p.(=) Unknown - likely benign g.77475546G>A g.79715546G>A CTDP1(NM_004715.5):c.2068+18G>A - CTDP1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2069-20C>T r.(=) p.(=) Unknown - benign g.77477515C>T g.79717515C>T CTDP1(NM_004715.5):c.2069-20C>T - CTDP1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2069-14C>T r.(=) p.(=) Unknown - likely benign g.77477521C>T - CTDP1(NM_004715.4):c.2069-14C>T, CTDP1(NM_048368.4):c.2069-14C>T - CTDP1_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2069-14C>T r.(=) p.(=) Unknown - likely benign g.77477521C>T - CTDP1(NM_004715.4):c.2069-14C>T, CTDP1(NM_048368.4):c.2069-14C>T - CTDP1_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2069-3C>T r.spl? p.? Unknown - likely benign g.77477532C>T g.79717532C>T CTDP1(NM_004715.4):c.2069-3C>T - CTDP1_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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