Full data view for gene ALG13

Information The variants shown are described using the NM_001099922.2 transcript reference sequence.

109 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.? r.? p.? Maternal (confirmed) ACMG VUS g.? - c.374-5C>T - USP9X_000005 - PubMed: Zhou 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - target gene panel epilepsy Pat008 PubMed: Zhou 2018 family, 1 affected, unaffected carrier mother M - China - - - - - 1 Johan den Dunnen
-?/. - c.108A>G r.(?) p.(Arg36=) Unknown - likely benign g.110925386A>G g.111682158A>G ALG13(NM_001099922.2):c.108A>G (p.R36=) - ALG13_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.150C>T r.(?) p.(Pro50=) Unknown - likely benign g.110925428C>T g.111682200C>T ALG13(NM_001099922.3):c.150C>T (p.P50=) - ALG13_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.158C>A r.(?) p.(Thr53Asn) Unknown - VUS g.110925436C>A g.111682208C>A - - ALG13_000003 - PubMed: Bobbili 2018, Journal: Bobbili 2018 - - Germline - 1/567 controls - - - DNA SEQ-NG - - Healthy/Control S_384:0/1:CONTROL PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 567 controls - - - - - - - - 1 Dheeraj Bobbili
-?/. - c.183C>T r.(?) p.(Tyr61=) Unknown - likely benign g.110925461C>T g.111682233C>T ALG13(NM_001039210.3):c.183C>T (p.(Tyr61=)) - ALG13_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 2 c.183C>T r.(?) p.(=) Parent #1 - likely benign g.110925461C>T g.111682233C>T Y61Y - ALG13_000009 recurrent, found 5 times PubMed: Tarpey 2009 - - Germline - 5/208 cases - - - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 5 Lucy Raymond
-?/. - c.207A>C r.(?) p.(Glu69Asp) Unknown - likely benign g.110925485A>C g.111682257A>C ALG13(NM_001099922.2):c.207A>C (p.E69D) - ALG13_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.289G>A r.(?) p.(Val97Ile) Unknown - likely benign g.110928237G>A g.111685009G>A ALG13(NM_001257231.1):c.55G>A (p.V19I) - ALG13_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 2 c.320A>G r.(?) p.(Asn107Ser) Unknown - likely pathogenic g.110928268A>G g.111685040A>G - - ALG13_000002 not specifically associated with ID phenotype but may have clinical consequences PubMed: Gilissen 2014 - - De novo ? - - - - DNA SEQ - - ID - PubMed: Gilissen 2014 - ? ? - - - - - - 1 Marianne Vos (LOVD-team)
./. - c.320A>G r.(?) p.(Asn107Ser) Unknown - pathogenic g.110928268A>G g.111685040A>G - - ALG13_000002 - PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - - Decipher - 1 Johan den Dunnen
+/. 3 c.320A>G r.(?) p.(Asn107Ser) Unknown - pathogenic g.110928268A>G g.111685040A>G - - ALG13_000002 father unavailable PubMed: Epi4K consortium 2016, Journal: Epi4K consortium 2016 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - EE - PubMed: Epi4K consortium 2016, Journal: Epi4K consortium 2016 father unavailable F - - - - - - - 1 Johan den Dunnen
+/. - c.320A>G r.(?) p.(Asn107Ser) Unknown - pathogenic g.110928268A>G g.111685040A>G - - ALG13_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.320A>G r.(?) p.(Asn107Ser) Unknown - pathogenic g.110928268A>G g.111685040A>G - - ALG13_000002 - PubMed: Ganapathy 2019 - - Germline - - - - - DNA SEQ-NG - TruSight One panel ? S-4679 PubMed: Ganapathy 2019 - - - India - - - - - 1 Johan den Dunnen
+?/. - c.365T>G r.(?) p.(Leu122Arg) Unknown - VUS g.110928313T>G g.111685085T>G 425T>G - ALG13_000071 - PubMed: Zhu 2015 - - De novo - - - - - DNA SEQ, SEQ-NG - trio WES ? Trio94 PubMed: Zhu 2015 - M - United States - - - - - 1 Johan den Dunnen
-?/. - c.371A>G r.(?) p.(Tyr124Cys) Unknown - likely benign g.110928319A>G g.111685091A>G ALG13(NM_001257231.1):c.137A>G (p.Y46C) - ALG13_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.383+2787G>T r.(=) p.(=) Unknown - likely benign g.110931118G>T g.111687890G>T ALG13(NM_001039210.3):c.328G>T (p.(Ala110Ser)) - ALG13_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.383+2810T>C r.(=) p.(=) Unknown - VUS g.110931141T>C g.111687913T>C ALG13(NM_001257240.2):c.98T>C (p.M33T) - ALG13_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.383+2854A>C r.(=) p.(=) Unknown - likely benign g.110931185A>C g.111687957A>C ALG13(NM_001257240.2):c.142A>C (p.K48Q) - ALG13_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.388C>G r.(?) p.(Leu130Val) Unknown - VUS g.110951259C>G - ALG13(NM_001099922.3):c.388C>G (p.L130V) - ALG13_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.541A>G r.(?) p.(Thr181Ala) Unknown - likely benign g.110951412A>G g.111708184A>G ALG13(NM_001257231.1):c.307A>G (p.T103A) - ALG13_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.620G>A r.(?) p.(Gly207Glu) Unknown - likely benign g.110951491G>A g.111708263G>A ALG13(NM_001257231.1):c.386G>A (p.G129E) - ALG13_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.750+3_750+4insG r.spl? p.? Unknown - VUS g.110951624_110951625insG g.111708396_111708397insG - - ALG13_000004 - PubMed: Bobbili 2018, Journal: Bobbili 2018 - - Germline - 1/567 controls - - - DNA SEQ-NG - - Healthy/Control S_293:0/1:CONTROL PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 567 controls - - - - - - - - 1 Dheeraj Bobbili
?/. - c.899A>C r.(?) p.(Gln300Pro) Unknown - VUS g.110955725A>C g.111712497A>C ALG13(NM_001257231.1):c.665A>C (p.Q222P) - ALG13_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.953G>A r.(?) p.(Arg318His) Unknown - VUS g.110956473G>A g.111713245G>A - - ALG13_000005 - PubMed: Bobbili 2018, Journal: Bobbili 2018 - - Germline - 1/567 controls - - - DNA SEQ-NG - - Healthy/Control S_172:0/1:CONTROL PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 567 controls - - - - - - - - 1 Dheeraj Bobbili
-?/. - c.966A>T r.(?) p.(Lys322Asn) Unknown - likely benign g.110956486A>T g.111713258A>T ALG13(NM_001099922.2):c.966A>T (p.(Lys322Asn)) - ALG13_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1088-12T>A r.(=) p.(=) Unknown - likely benign g.110961328T>A g.111718100T>A ALG13(NM_001257231.1):c.854-12T>A - ALG13_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1152G>A r.(?) p.(=) Unknown - likely benign g.110961404G>A - ALG13(NM_001099922.3):c.1152G>A (p.A384=) - chrX_018828 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1266T>C r.(?) p.(Gly422=) Unknown - benign g.110963338T>C g.111720110T>C ALG13(NM_001257231.2):c.1032T>C (p.G344=) - ALG13_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1305T>G r.(?) p.(Asn435Lys) Unknown - likely benign g.110963377T>G - ALG13(NM_001257231.1):c.1071T>G (p.N357K) - ALG13_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1313C>A r.(?) p.(Thr438Lys) Unknown - likely benign g.110963385C>A g.111720157C>A ALG13(NM_001257231.1):c.1079C>A (p.T360K) - ALG13_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1481A>G r.(?) p.(Tyr494Cys) Unknown - VUS g.110966066A>G - ALG13(NM_001099922.3):c.1481A>G (p.Y494C) - ALG13_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1505G>T r.(?) p.(Cys502Phe) Unknown - likely benign g.110967030G>T g.111723802G>T ALG13(NM_001257231.1):c.1271G>T (p.C424F) - ALG13_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.1601+1G>T r.spl? p.? Unknown - VUS g.110967127G>T g.111723899G>T - - ALG13_000006 - PubMed: Bobbili 2018, Journal: Bobbili 2018 - - Germline - 1/567 controls - - - DNA SEQ-NG - - Healthy/Control S_3:0/1:CONTROL PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 567 controls - - - - - - - - 1 Dheeraj Bobbili
?/. - c.1804A>G r.(?) p.(Met602Val) Unknown - VUS g.110970111A>G g.111726883A>G ALG13(NM_001099922.2):c.1804A>G (p.(Met602Val)) - ALG13_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.1834C>T r.(?) p.(Pro612Ser) Unknown - VUS g.110970141C>T g.111726913C>T - - ALG13_000007 - PubMed: Bobbili 2018, Journal: Bobbili 2018 - rs200516126 Germline - 2/567 controls - - - DNA SEQ-NG - - Healthy/Control S_338:0/1:CONTROL PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 567 controls - - - - - - - - 1 Dheeraj Bobbili
./. - c.1834C>T r.(?) p.(Pro612Ser) Unknown - VUS g.110970141C>T g.111726913C>T - - ALG13_000007 - PubMed: Bobbili 2018, Journal: Bobbili 2018 - rs200516126 Germline - 2/567 controls - - - DNA SEQ-NG - - Healthy/Control S_71:0/1:CONTROL PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 567 controls - - - - - - - - 1 Dheeraj Bobbili
-?/. - c.1834C>T r.(?) p.(Pro612Ser) Unknown - likely benign g.110970141C>T g.111726913C>T ALG13(NM_001099922.2):c.1834C>T (p.(Pro612Ser)), ALG13(NM_001099922.3):c.1834C>T (p.P612S), ALG13(NM_001257231.1):c.1600C>T (p.P534S) - ALG13_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1834C>T r.(?) p.(Pro612Ser) Unknown - likely benign g.110970141C>T - ALG13(NM_001099922.2):c.1834C>T (p.(Pro612Ser)), ALG13(NM_001099922.3):c.1834C>T (p.P612S), ALG13(NM_001257231.1):c.1600C>T (p.P534S) - ALG13_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1834C>T r.(?) p.(Pro612Ser) Unknown - likely benign g.110970141C>T - ALG13(NM_001099922.2):c.1834C>T (p.(Pro612Ser)), ALG13(NM_001099922.3):c.1834C>T (p.P612S), ALG13(NM_001257231.1):c.1600C>T (p.P534S) - ALG13_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2213A>G r.(?) p.(Glu738Gly) Unknown - likely benign g.110970964A>G g.111727736A>G ALG13(NM_001257231.1):c.1979A>G (p.E660G) - ALG13_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2248-4A>G r.spl? p.? Unknown - likely benign g.110971409A>G g.111728181A>G ALG13(NM_001099922.2):c.2248-4A>G (p.?), ALG13(NM_001257231.1):c.2014-4A>G - ALG13_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2248-4A>G r.spl? p.? Unknown - likely benign g.110971409A>G - ALG13(NM_001099922.2):c.2248-4A>G (p.?), ALG13(NM_001257231.1):c.2014-4A>G - ALG13_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2248-4A>G r.spl? p.? Maternal (confirmed) - VUS g.110971409A>G - 2014-4A>G - ALG13_000039 description variant not certain (no refseq given) PubMed: Gershlick 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD patient PubMed: Gershlick 2019 2-generation family, 1 affected, unaffected heterozygous carrier parents F - United States - - - - - 1 Johan den Dunnen
?/. - c.2351A>T r.(?) p.(Asn784Ile) Unknown - VUS g.110971516A>T - ALG13(NM_001257231.1):c.2117A>T (p.N706I) - ALG13_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2369G>A r.(?) p.(Gly790Glu) Unknown - likely benign g.110973623G>A g.111730395G>A ALG13(NM_001257231.1):c.2135G>A (p.G712E) - ALG13_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2376T>C r.(?) p.(Tyr792=) Unknown - likely benign g.110973630T>C - ALG13(NM_001257231.1):c.2142T>C (p.Y714=) - ALG13_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.2383_2385del r.(?) p.(Glu795del) Unknown - VUS g.110973637_110973639del g.111730409_111730411del - - ALG13_000008 nonframeshift_deletion PubMed: Bobbili 2018, Journal: Bobbili 2018 - - Germline - 2/567 controls - - - DNA SEQ-NG - - Healthy/Control S_209:0/1:CONTROL PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 567 controls - - - - - - - - 1 Dheeraj Bobbili
./. - c.2383_2385del r.(?) p.(Glu795del) Unknown - VUS g.110973637_110973639del g.111730409_111730411del - - ALG13_000008 nonframeshift_deletion PubMed: Bobbili 2018, Journal: Bobbili 2018 - - Germline - 2/567 controls - - - DNA SEQ-NG - - Healthy/Control S_408:0/1:CONTROL PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 567 controls - - - - - - - - 1 Dheeraj Bobbili
-?/. - c.2383_2385del r.(?) p.(Glu795del) Unknown - likely benign g.110973637_110973639del g.111730409_111730411del ALG13(NM_001099922.2):c.2380_2382del (p.(Glu795del)), ALG13(NM_001099922.3):c.2383_2385delGAA (p.E795del), ALG13(NM_001257231.1):c.2149_2151delGAA ... - ALG13_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2383_2385del r.(?) p.(Glu795del) Unknown - likely benign g.110973637_110973639del g.111730409_111730411del ALG13(NM_001099922.2):c.2380_2382del (p.(Glu795del)), ALG13(NM_001099922.3):c.2383_2385delGAA (p.E795del), ALG13(NM_001257231.1):c.2149_2151delGAA ... - ALG13_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2383_2385del r.(?) p.(Glu795del) Unknown - likely benign g.110973637_110973639del g.111730409_111730411del ALG13(NM_001099922.2):c.2380_2382del (p.(Glu795del)), ALG13(NM_001099922.3):c.2383_2385delGAA (p.E795del), ALG13(NM_001257231.1):c.2149_2151delGAA ... - ALG13_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2383_2385del r.(?) p.(Glu795del) Unknown - likely benign g.110973637_110973639del - ALG13(NM_001099922.2):c.2380_2382del (p.(Glu795del)), ALG13(NM_001099922.3):c.2383_2385delGAA (p.E795del), ALG13(NM_001257231.1):c.2149_2151delGAA ... - ALG13_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2395C>T r.(?) p.(Arg799Cys) Unknown - VUS g.110973649C>T g.111730421C>T ALG13(NM_001257231.1):c.2161C>T (p.R721C) - ALG13_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2457+15_2457+17del r.(=) p.(=) Unknown - likely benign g.110973823_110973825del - ALG13(NM_001257231.1):c.2223+15_2223+17delATA - ALG13_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2485A>G r.(?) p.(Met829Val) Unknown - likely benign g.110978306A>G g.111735078A>G ALG13(NM_001257231.1):c.2251A>G (p.M751V) - ALG13_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2485A>G r.(?) p.(Met829Val) Unknown - likely benign g.110978306A>G - ALG13(NM_001257231.1):c.2251A>G (p.M751V) - ALG13_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2500A>G r.(?) p.(Thr834Ala) Unknown - likely benign g.110978321A>G g.111735093A>G ALG13(NM_001257231.1):c.2266A>G (p.T756A) - ALG13_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2606C>T r.(?) p.(Ala869Val) Unknown - likely benign g.110980018C>T g.111736790C>T ALG13(NM_001257231.1):c.2372C>T (p.A791V) - ALG13_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2617G>C r.(?) p.(Ala873Pro) Unknown - likely benign g.110980029G>C g.111736801G>C ALG13(NM_001257231.1):c.2383G>C (p.A795P) - ALG13_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2617G>C r.(?) p.(Ala873Pro) Unknown - likely benign g.110980029G>C - ALG13(NM_001257231.1):c.2383G>C (p.A795P) - ALG13_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2672C>T r.(?) p.(Ser891Phe) Unknown - likely benign g.110980084C>T g.111736856C>T ALG13(NM_001099922.2):c.2672C>T (p.(Ser891Phe)), ALG13(NM_001257231.1):c.2438C>T (p.S813F) - ALG13_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2672C>T r.(?) p.(Ser891Phe) Unknown - likely benign g.110980084C>T g.111736856C>T ALG13(NM_001099922.2):c.2672C>T (p.(Ser891Phe)), ALG13(NM_001257231.1):c.2438C>T (p.S813F) - ALG13_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2672C>T r.(?) p.(Ser891Phe) Unknown - benign g.110980084C>T g.111736856C>T ALG13(NM_001099922.2):c.2672C>T (p.(Ser891Phe)), ALG13(NM_001257231.1):c.2438C>T (p.S813F) - ALG13_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2685C>T r.(?) p.(His895=) Unknown - likely benign g.110980097C>T - ALG13(NM_001257231.1):c.2451C>T (p.H817=) - ALG13_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2685C>T r.(?) p.(His895=) Unknown - likely benign g.110980097C>T - ALG13(NM_001257231.1):c.2451C>T (p.H817=) - ALG13_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2769A>C r.(?) p.(Pro923=) Unknown - likely benign g.110987969A>C g.111744741A>C ALG13(NM_001257231.1):c.2535A>C (p.P845=) - ALG13_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2781_2798del r.(?) p.(Pro940_Pro945del) Unknown - likely benign g.110987981_110987998del g.111744753_111744770del ALG13(NM_001257231.1):c.2547_2564delACCACCACCACCACCACC (p.P862_P867del) - ALG13_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2784_2798del r.(?) p.(Pro941_Pro945del) Unknown - likely benign g.110987984_110987998del - ALG13(NM_001099922.3):c.2784_2798delACCACCACCACCACC (p.P941_P945del) - ALG13_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2787A>G r.(?) p.(Pro929=) Unknown - likely benign g.110987987A>G - ALG13(NM_001257231.1):c.2553A>G (p.P851=) - ALG13_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2793_2798del r.(?) p.(Pro944_Pro945del) Unknown - likely benign g.110987993_110987998del - ALG13(NM_001099922.3):c.2793_2798delACCACC (p.P944_P945del), ALG13(NM_001257231.1):c.2559_2564delACCACC (p.P866_P867del) - ALG13_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2793_2798del r.(?) p.(Pro944_Pro945del) Unknown - likely benign g.110987993_110987998del - ALG13(NM_001099922.3):c.2793_2798delACCACC (p.P944_P945del), ALG13(NM_001257231.1):c.2559_2564delACCACC (p.P866_P867del) - ALG13_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2796A>T r.(?) p.(Pro932=) Unknown - likely benign g.110987996A>T g.111744768A>T ALG13(NM_001257231.1):c.2562A>T (p.P854=) - ALG13_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2796A>T r.(?) p.(Pro932=) Unknown - likely benign g.110987996A>T g.111744768A>T ALG13(NM_001257231.1):c.2562A>T (p.P854=) - ALG13_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2796_2798del r.(?) p.(Pro945del) Unknown - likely benign g.110987996_110987998del g.111744768_111744770del ALG13(NM_001257231.1):c.2562_2564delACC (p.P867del) - ALG13_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2796_2798del r.(?) p.(Pro945del) Unknown - likely benign g.110987996_110987998del - ALG13(NM_001257231.1):c.2562_2564delACC (p.P867del) - ALG13_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2796_2798dup r.(?) p.(Pro945dup) Unknown - VUS g.110987996_110987998dup g.111744768_111744770dup ALG13(NM_001099922.2):c.2753_2754insACC (p.(Pro945dup)), ALG13(NM_001257231.1):c.2562_2564dupACC (p.P867dup), ALG13(NM_001257231.2):c.2562_2564dupA... - ALG13_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2796_2798dup r.(?) p.(Pro945dup) Unknown - likely benign g.110987996_110987998dup g.111744768_111744770dup ALG13(NM_001099922.2):c.2753_2754insACC (p.(Pro945dup)), ALG13(NM_001257231.1):c.2562_2564dupACC (p.P867dup), ALG13(NM_001257231.2):c.2562_2564dupA... - ALG13_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2796_2798dup r.(?) p.(Pro945dup) Unknown - likely benign g.110987996_110987998dup g.111744768_111744770dup ALG13(NM_001099922.2):c.2753_2754insACC (p.(Pro945dup)), ALG13(NM_001257231.1):c.2562_2564dupACC (p.P867dup), ALG13(NM_001257231.2):c.2562_2564dupA... - ALG13_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2798_2799insACCTCC r.(?) p.(Pro944_Pro945dup) Unknown - likely benign g.110987998_110987999insACCTCC - ALG13(NM_001257231.1):c.2564_2565insACCTCC (p.P866_P867dup) - ALG13_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2799T>A r.(?) p.(Pro933=) Unknown - likely benign g.110987999T>A g.111744771T>A ALG13(NM_001099922.3):c.2799T>A (p.P933=), ALG13(NM_001257231.1):c.2565T>A (p.P855=) - ALG13_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2799T>A r.(?) p.(Pro933=) Unknown - likely benign g.110987999T>A - ALG13(NM_001099922.3):c.2799T>A (p.P933=), ALG13(NM_001257231.1):c.2565T>A (p.P855=) - ALG13_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2824_2835del r.(?) p.(Pro942_Pro945del) Unknown - VUS g.110988024_110988035del - ALG13(NM_001257231.1):c.2590_2601delCCTCCTCCTCCT (p.P864_P867del) - ALG13_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2833_2835del r.(?) p.(Pro945del) Unknown - benign g.110988033_110988035del g.111744805_111744807del ALG13(NM_001099922.3):c.2833_2835delCCT (p.P945del), ALG13(NM_001257231.1):c.2599_2601delCCT (p.P867del) - ALG13_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2833_2835del r.(?) p.(Pro945del) Unknown - benign g.110988033_110988035del - ALG13(NM_001099922.3):c.2833_2835delCCT (p.P945del), ALG13(NM_001257231.1):c.2599_2601delCCT (p.P867del) - ALG13_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2833_2835dup r.(?) p.(Pro945dup) Unknown - likely benign g.110988033_110988035dup g.111744805_111744807dup ALG13(NM_001257231.1):c.2599_2601dupCCT (p.P867dup) - ALG13_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2833_2835dup r.(?) p.(Pro945dup) Unknown - likely benign g.110988033_110988035dup g.111744805_111744807dup ALG13(NM_001257231.1):c.2599_2601dupCCT (p.P867dup) - ALG13_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2898T>C r.(?) p.(Tyr966=) Unknown - likely benign g.110988098T>C g.111744870T>C ALG13(NM_001257231.1):c.2664T>C (p.Y888=) - ALG13_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2898T>C r.(?) p.(Tyr966=) Unknown - likely benign g.110988098T>C - ALG13(NM_001257231.1):c.2664T>C (p.Y888=) - ALG13_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2913C>T r.(?) p.(=) Unknown - likely benign g.110988113C>T - ALG13(NM_001099922.3):c.2913C>T (p.S971=) - chrX_018829 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2918G>T r.(?) p.(Ser973Ile) Unknown - VUS g.110988118G>T - ALG13(NM_001099922.3):c.2918G>T (p.S973I) - ALG13_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 25i c.2974-95del r.(=) p.(=) Unknown - VUS g.111000721del g.111757493del - - ALG13_000001 - - - - Germline ? - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
-?/. - c.3039A>G r.(?) p.(Val1013=) Unknown - likely benign g.111000881A>G g.111757653A>G ALG13(NM_001257231.1):c.2805A>G (p.V935=) - ALG13_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3058A>G r.(?) p.(Thr1020Ala) Unknown - likely benign g.111000900A>G g.111757672A>G ALG13(NM_001257231.1):c.2824A>G (p.T942A) - ALG13_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3093A>G r.(?) p.(Gln1031=) Unknown - likely benign g.111000935A>G - ALG13(NM_001257231.1):c.2859A>G (p.Q953=) - ALG13_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3093A>G r.(?) p.(Gln1031=) Unknown - likely benign g.111000935A>G - ALG13(NM_001257231.1):c.2859A>G (p.Q953=) - ALG13_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3106G>A r.(?) p.(Val1036Met) Unknown - VUS g.111000948G>A g.111757720G>A ALG13(NM_001099922.2):c.3106G>A (p.(Val1036Met)) - ALG13_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3139T>C r.(?) p.(Ser1047Pro) Unknown - VUS g.111000981T>C g.111757753T>C ALG13(NM_001257231.1):c.2905T>C (p.S969P) - ALG13_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3145A>G r.(?) p.(Asn1049Asp) Unknown - likely benign g.111000987A>G - ALG13(NM_001099922.3):c.3145A>G (p.N1049D) - ALG13_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3196T>C r.(?) p.(Tyr1066His) Unknown - VUS g.111003009T>C - ALG13(NM_001099922.3):c.3196T>C (p.Y1066H) - ALG13_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3221A>G r.(?) p.(Tyr1074Cys) Unknown - likely benign g.111003034A>G - ALG13(NM_001257231.1):c.2987A>G (p.Y996C) - ALG13_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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