Full data view for gene DRP2

Information The variants shown are described using the NM_001939.2 transcript reference sequence.

72 entries on 1 page. Showing entries 1 - 72.
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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     
+/. _1_24_ c.-32054_*123659del r.0 p.0 Unknown - pathogenic g.100443248_100639269del g.101188262_101384283del - - BTK_000931 196 kb deletion (sequences Fig.3 incorrect, top BTK, bottom DRP2, junction sequence?) PubMed: Arai 2011 - - Germline - - - 0 - DNA PCR, SEQ - - XLA;AGMX-1 21753765-Pat3 PubMed: Arai 2011 - M - Japan - - 0 - - 1 Johan den Dunnen
+/. _1_24_ c.-4715_*104676del r.0 p.0 Unknown - pathogenic (recessive) g.100470587_100620286del g.101215595_101365294del - - BTK_000930 149.7 kb deletion PubMed: Arai 2011 - - Germline - - - 0 - DNA arrayCGH, FISH, PCR - - XLA;AGMX-1 21753765-Pat2 PubMed: Arai 2011 - M - Japan - - 0 - - 1 Johan den Dunnen
?/. - c.-167+163_-167+168dup r.(=) p.(=) Unknown - VUS g.100475298_100475303dup g.101220309_101220314dup - - DRP2_000004 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.-167+165_-167+168dup r.(=) p.(=) Unknown - VUS g.100475300_100475303dup g.101220311_101220314dup - - DRP2_000005 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.-63-241C>A r.(=) p.(=) Unknown - VUS g.100486333C>A g.101231344C>A - - DRP2_000026 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.10A>G r.(?) p.(Met4Val) Unknown - VUS g.100486646A>G - DRP2(NM_001939.2):c.10A>G (p.M4V) - DRP2_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.86del r.(?) p.(Ser29ThrfsTer31) Unknown - VUS g.100486722del g.101231733del DRP2(NM_001939.2):c.86delG (p.S29Tfs*31) - DRP2_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.86del r.(?) p.(Ser29ThrfsTer31) Unknown - VUS g.100486722del - DRP2(NM_001939.2):c.86delG (p.S29Tfs*31) - DRP2_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.95G>A r.(?) p.(Arg32Gln) Unknown - likely benign g.100486731G>A - DRP2(NM_001939.2):c.95G>A (p.(Arg32Gln)) - DRP2_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.135C>T r.(?) p.(Thr45=) Unknown - likely benign g.100490866C>T - DRP2(NM_001939.2):c.135C>T (p.T45=) - DRP2_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 4 c.180C>A r.(?) p.(Ser60Arg) Parent #1 - VUS g.100490911C>A g.101235922C>A S57R - DRP2_000036 recurrent, found 4 times PubMed: Tarpey 2009 - - Germline - 4/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 4 Lucy Raymond
-/. - c.180C>A r.(?) p.(Ser60Arg) Unknown - benign g.100490911C>A g.101235922C>A DRP2(NM_001939.2):c.180C>A (p.S60R) - DRP2_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.197G>A r.(?) p.(Gly66Glu) Unknown - VUS g.100490928G>A - DRP2(NM_001939.2):c.197G>A (p.G66E) - DRP2_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.202G>C r.(?) p.(Val68Leu) Maternal (inferred) - VUS g.100490933G>C g.101235944G>C - - DRP2_000020 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.202G>C r.(?) p.(Val68Leu) Maternal (inferred) - VUS g.100490933G>C g.101235944G>C - - DRP2_000020 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. 4 c.202G>C r.(?) p.(Val68Leu) Parent #1 - VUS g.100490933G>C g.101235944G>C V65L - DRP2_000020 recurrent, found 19 times PubMed: Tarpey 2009 - - Germline - 19/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 19 Lucy Raymond
-/. - c.202G>C r.(?) p.(Val68Leu) Unknown - benign g.100490933G>C g.101235944G>C DRP2(NM_001939.2):c.202G>C (p.V68L) - DRP2_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.305A>G r.(?) p.(Asp102Gly) Unknown - likely benign g.100492631A>G g.101237642A>G DRP2(NM_001939.2):c.305A>G (p.D102G) - DRP2_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.435T>C r.(?) p.(His145=) Unknown - benign g.100492761T>C g.101237772T>C DRP2(NM_001939.2):c.435T>C (p.H145=) - DRP2_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.438+9G>A r.(=) p.(=) Unknown - benign g.100492773G>A g.101237784G>A DRP2(NM_001939.2):c.438+9G>A - DRP2_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 5 c.439G>A r.(?) p.(Ala147Thr) Parent #1 - VUS g.100493970G>A g.101238981G>A A144T - DRP2_000037 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
-?/. - c.439G>A r.(?) p.(Ala147Thr) Unknown - likely benign g.100493970G>A g.101238981G>A DRP2(NM_001171184.1):c.205G>A (p.(Ala69Thr)), DRP2(NM_001939.2):c.439G>A (p.A147T) - DRP2_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.439G>A r.(?) p.(Ala147Thr) Unknown - likely benign g.100493970G>A - DRP2(NM_001171184.1):c.205G>A (p.(Ala69Thr)), DRP2(NM_001939.2):c.439G>A (p.A147T) - DRP2_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.569C>G r.(?) p.(Pro190Arg) Unknown - VUS g.100496666C>G g.101241677C>G DRP2(NM_001939.2):c.569C>G (p.P190R) - DRP2_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.583C>T r.(?) p.(Gln195Ter) Unknown - VUS g.100496680C>T - - - DRP2_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.614C>T r.(?) p.(Ala205Val) Unknown - VUS g.100496711C>T - DRP2(NM_001939.2):c.614C>T (p.A205V) - DRP2_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.618G>A r.(?) p.(Thr206=) Unknown - likely benign g.100496715G>A g.101241726G>A DRP2(NM_001939.2):c.618G>A (p.T206=) - DRP2_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.646A>G r.(?) p.(Thr216Ala) Unknown - VUS g.100496743A>G - DRP2(NM_001939.2):c.646A>G (p.T216A) - DRP2_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.844T>C r.(?) p.(Phe282Leu) Unknown - likely benign g.100497329T>C - DRP2(NM_001939.2):c.844T>C (p.F282L) - DRP2_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1019G>A r.(?) p.(Arg340Gln) Unknown - VUS g.100497936G>A - DRP2(NM_001939.2):c.1019G>A (p.R340Q) - DRP2_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 10 c.1115+1G>C r.spl p.? Parent #1 - VUS g.100500067G>C g.101245078G>C IVS10+1G>C - DRP2_000042 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
?/. - c.1159G>A r.(?) p.(Glu387Lys) Unknown - VUS g.100500420G>A g.101245431G>A DRP2(NM_001171184.1):c.925G>A (p.(Glu309Lys)) - DRP2_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1321G>A r.(?) p.(Val441Met) Unknown - likely benign g.100503146G>A g.101248157G>A DRP2(NM_001171184.1):c.1087G>A (p.(Val363Met)) - DRP2_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1383A>C r.(?) p.(Glu461Asp) Unknown - VUS g.100503208A>C g.101248219A>C DRP2(NM_001939.2):c.1383A>C (p.E461D) - DRP2_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 13 c.1454+5G>A r.spl? p.? Parent #1 - VUS g.100503284G>A g.101248295G>A - - DRP2_000041 recurrent, found 7 times PubMed: Tarpey 2009 - - Germline - 7/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 7 Lucy Raymond
-?/. - c.1454+5G>A r.spl? p.? Unknown - likely benign g.100503284G>A g.101248295G>A DRP2(NM_001171184.1):c.1220+5G>A (p.?), DRP2(NM_001939.2):c.1454+5G>A - DRP2_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1454+5G>A r.spl? p.? Unknown - benign g.100503284G>A g.101248295G>A DRP2(NM_001171184.1):c.1220+5G>A (p.?), DRP2(NM_001939.2):c.1454+5G>A - DRP2_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 14 c.1517C>T r.(?) p.(Thr506Met) Parent #1 - VUS g.100503565C>T g.101248576C>T T503M - DRP2_000038 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
?/. - c.1698+48G>C r.(=) p.(=) Maternal (inferred) - VUS g.100505617G>C g.101250628G>C - - DRP2_000023 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.1698+48G>C r.(=) p.(=) Maternal (inferred) - VUS g.100505617G>C g.101250628G>C - - DRP2_000023 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.1705G>A r.(?) p.(Gly569Arg) Unknown - VUS g.100505912G>A g.101250923G>A DRP2(NM_001939.2):c.1705G>A (p.G569R) - DRP2_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 16 c.1755G>A r.(=) p.(=) Parent #1 - VUS g.100505962G>A g.101250973G>A E582E - DRP2_000039 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
-/. - c.1755G>A r.(?) p.(Glu585=) Unknown - benign g.100505962G>A g.101250973G>A DRP2(NM_001939.2):c.1755G>A (p.E585=) - DRP2_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 17 c.1947G>T r.(=) p.(=) Parent #1 - VUS g.100507675G>T g.101252686G>T L646L - DRP2_000040 recurrent, found 3 times PubMed: Tarpey 2009 - - Germline - 3/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 3 Lucy Raymond
-/. - c.1947G>T r.(?) p.(Leu649=) Unknown - benign g.100507675G>T g.101252686G>T DRP2(NM_001939.2):c.1947G>T (p.L649=) - DRP2_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1978-252_1978-251insTT r.(=) p.(=) Maternal (inferred) - VUS g.100509162_100509163insTT g.101254173_101254174insTT - - DRP2_000006 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.1978-252_1978-251insTT r.(=) p.(=) Maternal (inferred) - VUS g.100509162_100509163insTT g.101254173_101254174insTT - - DRP2_000006 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
-?/. - c.2142C>T r.(?) p.(His714=) Unknown - likely benign g.100509875C>T - DRP2(NM_001939.2):c.2142C>T (p.H714=) - DRP2_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2146G>A r.(?) p.(Asp716Asn) Unknown - VUS g.100509879G>A g.101254890G>A DRP2(NM_001939.2):c.2146G>A (p.D716N) - DRP2_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.2247-9C>T r.(=) p.(=) Maternal (inferred) - VUS g.100511098C>T g.101256109C>T - - DRP2_000007 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.2247-9C>T r.(=) p.(=) Maternal (inferred) - VUS g.100511098C>T g.101256109C>T - - DRP2_000007 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
-/. - c.2247-9C>T r.(=) p.(=) Unknown - benign g.100511098C>T g.101256109C>T DRP2(NM_001939.2):c.2247-9C>T - DRP2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2291A>G r.(?) p.(Asp764Gly) Unknown - VUS g.100511151A>G g.101256162A>G DRP2(NM_001939.2):c.2291A>G (p.D764G) - DRP2_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2293C>T r.(?) p.(Arg765Trp) Unknown - VUS g.100511153C>T g.101256164C>T DRP2(NM_001939.2):c.2293C>T (p.R765W) - DRP2_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.2510C>T r.(?) p.(Ala837Val) Unknown - VUS g.100513417C>T g.101258428C>T DRP2(NM_001939.2):c.2510C>T (p.A837V) - DRP2_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2568C>T r.(?) p.(Leu856=) Unknown - likely benign g.100513475C>T g.101258486C>T DRP2(NM_001939.2):c.2568C>T (p.L856=) - DRP2_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2604G>A r.(?) p.(Gln868=) Unknown - likely benign g.100513511G>A g.101258522G>A DRP2(NM_001939.2):c.2604G>A (p.Q868=) - DRP2_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.2629-410T>C r.(=) p.(=) Maternal (inferred) - VUS g.100514628T>C g.101259639T>C - - DRP2_000010 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.2629-285C>T r.(=) p.(=) Maternal (inferred) - VUS g.100514753C>T g.101259764C>T - - DRP2_000011 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.2629-285C>T r.(=) p.(=) Maternal (inferred) - VUS g.100514753C>T g.101259764C>T - - DRP2_000011 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.2629-52G>A r.(=) p.(=) Maternal (inferred) - VUS g.100514986G>A g.101259997G>A - - DRP2_000014 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.2629-52G>A r.(=) p.(=) Maternal (inferred) - VUS g.100514986G>A g.101259997G>A - - DRP2_000014 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.2666C>T r.(?) p.(Ser889Leu) Unknown - VUS g.100515075C>T - DRP2(NM_001939.2):c.2666C>T (p.S889L) - DRP2_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2750-154A>G r.(=) p.(=) Maternal (inferred) - VUS g.100515332A>G g.101260343A>G - - DRP2_000017 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.2750-154A>G r.(=) p.(=) Maternal (inferred) - VUS g.100515332A>G g.101260343A>G - - DRP2_000017 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.2822T>C r.(?) p.(Phe941Ser) Unknown - VUS g.100515558T>C - - - DRP2_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*182A>G r.(=) p.(=) Maternal (inferred) - VUS g.100515792A>G g.101260803A>G - - DRP2_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.*182A>G r.(=) p.(=) Maternal (inferred) - VUS g.100515792A>G g.101260803A>G - - DRP2_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.*724_*725dup r.(=) p.(=) Maternal (inferred) - VUS g.100516334_100516335dup g.101261345_101261346dup - - DRP2_000027 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
-?/. - c.*8587C>T r.(=) p.(=) Unknown - likely benign g.100524197C>T g.101269209C>T TAF7L(NM_001168474.1):c.1115G>A (p.(Arg372His)), TAF7L(NM_024885.3):c.1373G>A (p.R458H) - TAF7L_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.*8587C>T r.(=) p.(=) Unknown - likely benign g.100524197C>T g.101269209C>T TAF7L(NM_001168474.1):c.1115G>A (p.(Arg372His)), TAF7L(NM_024885.3):c.1373G>A (p.R458H) - TAF7L_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*8602T>C r.(=) p.(=) Unknown - likely benign g.100524212T>C g.101269224T>C TAF7L(NM_024885.3):c.1358A>G (p.Q453R) - DRP2_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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