Full data view for gene CDT1

Information The variants shown are described using the NM_030928.3 transcript reference sequence.

74 entries on 1 page. Showing entries 1 - 74.
Legend   How to query  

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.10C>A r.(?) p.(Arg4Ser) Unknown - VUS g.88870249C>A - CDT1(NM_030928.4):c.10C>A (p.(Arg4Ser)) - CDT1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.130A>C r.(?) p.(Thr44Pro) Unknown - benign g.88870369A>C g.88803961A>C CDT1(NM_030928.3):c.130A>C (p.T44P, p.(Thr44Pro)) - CDT1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.130A>C r.(?) p.(Thr44Pro) Unknown - likely benign g.88870369A>C - CDT1(NM_030928.3):c.130A>C (p.T44P, p.(Thr44Pro)) - CDT1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.180C>G r.(?) p.(Asp60Glu) Unknown - likely benign g.88870419C>G g.88804011C>G CDT1(NM_030928.3):c.180C>G (p.(Asp60Glu)) - CDT1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.185C>T r.(?) p.(Ala62Val) Unknown - likely benign g.88870424C>T - CDT1(NM_030928.3):c.185C>T (p.(Ala62Val)) - CDT1_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.187A>G r.(?) p.(Arg63Gly) Unknown - VUS g.88870426A>G g.88804018A>G CDT1(NM_030928.3):c.187A>G (p.(Arg63Gly)) - CDT1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.243T>C r.(?) p.(Ser81=) Unknown - benign g.88870967T>C g.88804559T>C - - CDT1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.280C>T r.(?) p.(Pro94Ser) Unknown - VUS g.88871004C>T - - - CDT1_000029 - - - rs757078098 CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.292A>G r.(?) p.(Ile98Val) Unknown - VUS g.88871016A>G g.88804608A>G CDT1(NM_030928.3):c.292A>G (p.(Ile98Val)) - CDT1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.328C>T r.(?) p.(His110Tyr) Unknown - likely benign g.88871052C>T g.88804644C>T CDT1(NM_030928.3):c.328C>T (p.(His110Tyr)) - APRT_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.371C>A r.(?) p.(Ala124Glu) Unknown - VUS g.88871189C>A g.88804781C>A CDT1(NM_030928.3):c.371C>A (p.(Ala124Glu)) - CDT1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.404C>T r.(?) p.(Ala135Val) Unknown - likely benign g.88871222C>T - CDT1(NM_030928.3):c.404C>T (p.(Ala135Val)) - APRT_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.412C>T r.(?) p.(Arg138Trp) Unknown - VUS g.88871230C>T - CDT1(NM_030928.4):c.412C>T (p.(Arg138Trp)) - APRT_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.435G>A r.(?) p.(Gln145=) Unknown - benign g.88871253G>A g.88804845G>A - - CDT1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.464C>T r.(?) p.(Ala155Val) Unknown - likely benign g.88871282C>T - CDT1(NM_030928.3):c.464C>T (p.(Ala155Val)) - APRT_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.473G>A r.(?) p.(Arg158His) Unknown - VUS g.88871291G>A g.88804883G>A CDT1(NM_030928.3):c.473G>A (p.R158H, p.(Arg158His)) - CDT1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.473G>A r.(?) p.(Arg158His) Unknown - likely benign g.88871291G>A - CDT1(NM_030928.3):c.473G>A (p.R158H, p.(Arg158His)) - CDT1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.488+10G>C r.(=) p.(=) Unknown - likely benign g.88871316G>C - CDT1(NM_030928.4):c.488+10G>C - APRT_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.549A>G r.(?) p.(Gly183=) Unknown - benign g.88871908A>G g.88805500A>G - - CDT1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.553G>C r.(?) p.(Val185Leu) Unknown - likely benign g.88871912G>C - CDT1(NM_030928.3):c.553G>C (p.(Val185Leu)) - APRT_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.592C>T r.(?) p.(Arg198Cys) Unknown - VUS g.88871951C>T g.88805543C>T CDT1(NM_030928.3):c.592C>T (p.(Arg198Cys)) - APRT_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.610G>A r.(?) p.(Val204Met) Unknown - VUS g.88871969G>A - CDT1(NM_030928.4):c.610G>A (p.(Val204Met)) - APRT_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.613G>A r.(?) p.(Gly205Ser) Maternal (confirmed) - pathogenic g.88871972G>A g.88805564G>A - - CDT1_000002 - PubMed: DDDS 2015, Journal: DDDS 2015 - - Germline - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, affected father/child M - United Kingdom (Great Britain) - - - Decipher - 2 Johan den Dunnen
-?/. - c.613G>A r.(?) p.(Gly205Ser) Unknown - likely benign g.88871972G>A g.88805564G>A CDT1(NM_030928.3):c.613G>A (p.(Gly205Ser)) - CDT1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.613G>A r.(?) p.(Gly205Ser) Parent #1 - VUS g.88871972G>A g.88805564G>A - - CDT1_000002 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs145552478 Germline - 1/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
?/. - c.661C>T r.(?) p.(Arg221Trp) Unknown - VUS g.88872020C>T - CDT1(NM_030928.3):c.661C>T (p.(Arg221Trp)) - APRT_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.700T>C r.(?) p.(Cys234Arg) Unknown - benign g.88872145T>C g.88805737T>C CDT1(NM_030928.4):c.700T>C (p.C234R) - CDT1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.700T>C r.(?) p.(Cys234Arg) Unknown - benign g.88872145T>C g.88805737T>C CDT1(NM_030928.4):c.700T>C (p.C234R) - CDT1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.724G>A r.(?) p.(Val242Met) Unknown - VUS g.88872169G>A g.88805761G>A CDT1(NM_030928.3):c.724G>A (p.(Val242Met)) - APRT_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.738C>T r.(?) p.(=) Unknown - likely benign g.88872183C>T - CDT1(NM_030928.4):c.738C>T (p.(Ser246=)) - APRT_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.758G>A r.(?) p.(Arg253His) Parent #1 - VUS g.88872203G>A g.88805795G>A - - CDT1_000026 3 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs148337159 Germline - 3/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 3 Mohammed Faruq
-/. - c.784A>G r.(?) p.(Thr262Ala) Unknown - benign g.88872229A>G g.88805821A>G - - CDT1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.915T>C r.(?) p.(His305=) Unknown - benign g.88872511T>C g.88806103T>C CDT1(NM_030928.4):c.915T>C (p.H305=) - CDT1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.915T>C r.(?) p.(His305=) Unknown - benign g.88872511T>C g.88806103T>C CDT1(NM_030928.4):c.915T>C (p.H305=) - CDT1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.916G>A r.(?) p.(Val306Ile) Unknown - likely benign g.88872512G>A g.88806104G>A CDT1(NM_030928.3):c.916G>A (p.(Val306Ile)) - APRT_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.933+5G>T r.spl? p.? Unknown - VUS g.88872534G>T g.88806126G>T CDT1(NM_030928.3):c.933+5G>T (p.?) - CDT1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.934-9T>C r.(=) p.(=) Unknown - likely benign g.88872885T>C - CDT1(NM_030928.4):c.934-9T>C - APRT_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.958G>A r.(?) p.(Ala320Thr) Unknown - likely benign g.88872918G>A - CDT1(NM_030928.3):c.958G>A (p.(Ala320Thr)) - APRT_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.967G>T r.(?) p.(Val323Leu) Unknown - likely benign g.88872927G>T g.88806519G>T CDT1(NM_030928.3):c.967G>T (p.(Val323Leu)) - APRT_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.974A>G r.(?) p.(Glu325Gly) Unknown - VUS g.88872934A>G - CDT1(NM_030928.4):c.974A>G (p.(Glu325Gly)) - APRT_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1008C>T r.(?) p.(Asn336=) Unknown - likely benign g.88872968C>T - - - CDT1_000030 - - - rs778195622 CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1078_1080del r.(?) p.(Ala360del) Parent #1 ACMG likely pathogenic (recessive) g.88873038_88873040del g.88806630_88806632del - - CDT1_000027 - - - - Germline yes - - - - DNA SEQ-NG-I blood WGS MGORS4 - - - F no United Kingdom (Great Britain) - - - - - 1 Louise Bicknell
-?/. - c.1123-4G>A r.spl? p.? Unknown - likely benign g.88873455G>A - CDT1(NM_030928.3):c.1123-4G>A (p.?) - APRT_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1207C>T r.(?) p.(Pro403Ser) Unknown - likely benign g.88873543C>T - CDT1(NM_030928.3):c.1207C>T (p.(Pro403Ser)) - APRT_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1273C>T r.(?) p.(Arg425Trp) Unknown - VUS g.88873609C>T - CDT1(NM_030928.3):c.1273C>T (p.R425W) - APRT_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1276-24A>G r.spl? p.? Parent #2 ACMG likely pathogenic (recessive) g.88873665A>G g.88807257A>G - - CDT1_000028 minigene splicing analysis - no canonical reference transcript produced - - - Germline yes - - - - DNA SEQ-NG-I blood WGS MGORS4 - - - F no United Kingdom (Great Britain) - - - - - 1 Louise Bicknell
./. - c.1279C>T r.(?) p.(Arg427*) Paternal (confirmed) - pathogenic g.88873692C>T g.88807284C>T - - CDT1_000001 - PubMed: DDDS 2015, Journal: DDDS 2015 - - Germline - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, affected father/child M - United Kingdom (Great Britain) - - - Decipher - 2 Johan den Dunnen
?/. - c.1301A>C r.(?) p.(Gln434Pro) Unknown - VUS g.88873714A>C g.88807306A>C CDT1(NM_030928.3):c.1301A>C (p.Q434P, p.(Gln434Pro)) - CDT1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1301A>C r.(?) p.(Gln434Pro) Unknown - VUS g.88873714A>C g.88807306A>C CDT1(NM_030928.3):c.1301A>C (p.Q434P, p.(Gln434Pro)) - CDT1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1336_1337insGCTT r.(?) p.(Gln446Argfs*12) Unknown - VUS g.88873749_88873750insGCTT - CDT1(NM_030928.3):c.1336_1337insGCTT (p.(Gln446fs)) - APRT_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1338_1339insAA r.(?) p.(Arg447Asnfs*6) Unknown - VUS g.88873751_88873752insAA - CDT1(NM_030928.3):c.1338_1339insAA (p.(Arg447fs)) - APRT_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1357C>T r.(?) p.(Arg453Trp) Unknown - likely benign g.88873770C>T - CDT1(NM_030928.3):c.1357C>T (p.(Arg453Trp)) - APRT_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1367A>C r.(?) p.(Glu456Ala) Unknown - VUS g.88873780A>C g.88807372A>C CDT1(NM_030928.3):c.1367A>C (p.(Glu456Ala)) - CDT1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1385G>A r.(?) p.(Arg462Gln) Unknown - pathogenic g.88873798G>A g.88807390G>A - - CDT1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1402G>A r.(?) p.(Glu468Lys) Unknown - VUS g.88873815G>A - CDT1(NM_030928.3):c.1402G>A (p.E468K) - APRT_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1411C>G r.(?) p.(Pro471Ala) Unknown - likely benign g.88873824C>G g.88807416C>G CDT1(NM_030928.3):c.1411C>G (p.(Pro471Ala)) - CDT1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1411C>G r.(?) p.(Pro471Ala) Unknown - likely benign g.88873824C>G g.88807416C>G CDT1(NM_030928.3):c.1411C>G (p.(Pro471Ala)) - CDT1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1472G>A r.(?) p.(Ser491Asn) Unknown - VUS g.88873885G>A g.88807477G>A CDT1(NM_030928.3):c.1472G>A (p.(Ser491Asn)) - CDT1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1477+13_1477+34dup r.(=) p.(=) Unknown - likely benign g.88873903_88873924dup g.88807495_88807516dup CDT1(NM_030928.3):c.1477+3_1477+4insCGTGCAGGGCGGGGTGAAGGGG (p.?) - APRT_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1587C>G r.(?) p.(Leu529=) Unknown - benign g.88874632C>G g.88808224C>G - - CDT1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1610C>T r.(?) p.(Ala537Val) Unknown - benign g.88874655C>T g.88808247C>T CDT1(NM_030928.3):c.1610C>T (p.(Ala537Val)) - CDT1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1610C>T r.(?) p.(Ala537Val) Unknown - likely benign g.88874655C>T g.88808247C>T CDT1(NM_030928.3):c.1610C>T (p.(Ala537Val)) - CDT1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1621C>T r.(?) p.(Arg541Cys) Unknown - likely benign g.88874666C>T g.88808258C>T CDT1(NM_030928.3):c.1621C>T (p.(Arg541Cys)) - APRT_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1631A>T r.(?) p.(Glu544Val) Unknown - VUS g.88874676A>T g.88808268A>T CDT1(NM_030928.3):c.1631A>T (p.E544V, p.(Glu544Val)) - APRT_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1631A>T r.(?) p.(Glu544Val) Unknown - likely benign g.88874676A>T g.88808268A>T CDT1(NM_030928.3):c.1631A>T (p.E544V, p.(Glu544Val)) - APRT_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*1434G>A r.(=) p.(=) Unknown - likely benign g.88876120G>A g.88809712G>A APRT(NM_000485.2):c.529C>T (p.(=)) - APRT_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*1435G>A r.(=) p.(=) Unknown - VUS g.88876121G>A g.88809713G>A APRT(NM_000485.2):c.528C>T (p.(=)) - APRT_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.*1505C>T r.(=) p.(=) Unknown - likely pathogenic g.88876191C>T - APRT(NM_000485.3):c.458G>A (p.C153Y) - APRT_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*1613G>A r.(=) p.(=) Unknown - likely benign g.88876299G>A g.88809891G>A APRT(NM_000485.3):c.401-51C>T - APRT_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*2127C>T r.(=) p.(=) Unknown - likely benign g.88876813C>T - APRT(NM_000485.3):c.321+18G>A - APRT_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*2200C>T r.(=) p.(=) Unknown - likely benign g.88876886C>T - APRT(NM_000485.3):c.266G>A (p.R89Q) - APRT_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*3297G>A r.(=) p.(=) Unknown - likely benign g.88877983G>A - APRT(NM_000485.3):c.162C>T (p.H54=) - APRT_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*3369C>A r.(=) p.(=) Unknown - likely benign g.88878055C>A - APRT(NM_000485.3):c.90G>T (p.S30=) - APRT_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*3539C>T r.(=) p.(=) Unknown - VUS g.88878225C>T g.88811817C>T APRT(NM_000485.2):c.80+3G>A - APRT_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
Legend   How to query  


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.