Full data view for gene TEX11

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

63 entries on 1 page. Showing entries 1 - 63.
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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.-41+333A>G r.(=) p.(=) Maternal (inferred) - VUS g.70127270T>C g.70907420T>C - - TEX11_000021 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.289+35G>A r.(=) p.(=) Maternal (inferred) - VUS g.70093038C>T g.70873188C>T - - TEX11_000028 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.289+35G>A r.(=) p.(=) Maternal (inferred) - VUS g.70093038C>T g.70873188C>T - - TEX11_000028 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.344A>G r.(?) p.(K115R) Parent #1 - VUS g.70080732T>C g.70860882T>C - - TEX11_000003 recurrent, found 3 times PubMed: Tarpey 2009 - - Germline - 3/208 cases - - - DNA SEQ - - MRX;IDX 19377434-Pat? PubMed: Tarpey 2009 - - - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 3 Lucy Raymond
-/. 5 c.389A>G r.(652_888del) p.(Lys130Arg) Unknown - benign g.70073159T>C g.70853309T>C NM_001003811.1:c.389A>G - TEX11_000058 - PubMed: Yatsenko 2015, Journal: Yatsenko 2015 - - Germline - - - - - DNA SEQ - - Healthy/Control - PubMed: Yatsenko 2015, Journal: Yatsenko 2015 controls and patients M - Germany - - - - - 1 Johan den Dunnen
?/. - c.450C>T r.(=) p.(Ala150=) Parent #1 - VUS g.70073098G>A - p.A135A - TEX11_000004 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - DNA SEQ - - MRX;IDX 19377435-Pat? PubMed: Tarpey 2009 - - - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
?/. - c.450C>T r.(?) p.(Ala150=) Unknown - VUS g.70073098G>A g.70853248G>A TEX11(NM_001003811.1):c.450C>T (p.(=)), TEX11(NM_001003811.2):c.450C>T (p.A150=) - TEX11_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.450C>T r.spl p.? Maternal (inferred) - pathogenic g.70073098G>A g.70853248G>A NM_001003811.1:c.450C>T - TEX11_000037 - PubMed: Yatsenko 2015, Journal: Yatsenko 2015 - - Germline - 1/240 cases - - - DNA SEQ - - SPGF Pat6 PubMed: Yatsenko 2015, Journal: Yatsenko 2015 - M - Germany white - - - - 1 Johan den Dunnen
-?/. - c.450C>T r.(?) p.(Ala150=) Unknown - likely benign g.70073098G>A - TEX11(NM_001003811.1):c.450C>T (p.(=)), TEX11(NM_001003811.2):c.450C>T (p.A150=) - TEX11_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.459G>A r.(?) p.(Glu153=) Unknown - likely benign g.70072995C>T - TEX11(NM_001003811.1):c.459G>A (p.E153=) - TEX11_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.469G>A r.(?) p.(Val157Ile) Unknown - likely benign g.70072985C>T g.70853135C>T TEX11(NM_001003811.1):c.469G>A (p.V157I) - TEX11_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.493C>T r.(?) p.(Pro165Ser) Parent #1 - VUS g.70072961G>A - P150S) - TEX11_000005 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - DNA SEQ - - MRX;IDX 19377436-Pat? PubMed: Tarpey 2009 - - - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
-?/. - c.510C>T r.(?) p.(Thr170=) Unknown - likely benign g.70072944G>A - TEX11(NM_001003811.1):c.510C>T (p.T170=) - TEX11_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.511A>G r.(?) p.(Met171Val) Unknown ACMG likely pathogenic (dominant) g.70072943T>C g.70853093T>C - - TEX11_000046 - PubMed: Nakamura 2017 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WES INFM Pat3 PubMed: Nakamura 2017 - - - Japan - - - - - 1 Johan den Dunnen
+?/. - c.511A>G r.(?) p.(Met171Val) Maternal (inferred) - likely pathogenic g.70072943T>C g.70853093T>C NM_001003811.1:c.511A>G - TEX11_000046 - PubMed: Yatsenko 2015, Journal: Yatsenko 2015 - - Germline - 1/49 cases - - - DNA SEQ - - SPGF Pat2 PubMed: Yatsenko 2015, Journal: Yatsenko 2015 - M - - white;Europe - - - - 1 Johan den Dunnen
-?/. - c.511A>G r.(?) p.(Met171Val) Unknown - likely benign g.70072943T>C - TEX11(NM_031276.2):c.466A>G (p.(Met156Val)) - TEX11_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 9i_12i c.[651+5624_651+5738del;651+5739_651+6005inv;651+6006_889-3219del] r.(652_888del) p.(Thr218_Lys296del) Maternal (inferred) ACMG likely pathogenic g.[69948412_70047357del;70047358_70047624inv;70047625_70047739del] - NM_001003811.1:c.652del237bp - TEX11_000051 - PubMed: Yatsenko 2015, Journal: Yatsenko 2015, PubMed: Riera-Escamilla 2022, Journal: Riera-Escamilla 2022 - - Germline - 2/49 cases - - - DNA SEQ - - SPGF Pat1 PubMed: Yatsenko 2015, Journal: Yatsenko 2015, PubMed: Riera-Escamilla 2022, Journal: Riera-Escamilla 2022 - M - - white;Europe - - - - 1 Johan den Dunnen
+/. 9i_12i c.[651+5624_651+5738del;651+5739_651+6005inv;651+6006_889-3219del] r.(652_888del) p.(Thr218_Lys296del) Maternal (inferred) - pathogenic g.[69948412_70047357del;70047358_70047624inv;70047625_70047739del] - NM_001003811.1:c.652del237bp - TEX11_000051 - PubMed: Yatsenko 2015, Journal: Yatsenko 2015 - - Germline - 2/49 cases - - - DNA SEQ - - SPGF Pat3 PubMed: Yatsenko 2015, Journal: Yatsenko 2015 - M - - white;Europe - - - - 1 Johan den Dunnen
-?/. 10i c.737+1308dup r.(=) p.(=) Maternal (confirmed) - likely benign g.70025255dup g.70805405dup 70025255_70025256insT - TEX11_000016 - PubMed: Kumar 2016, Journal: Kumar 2016 - - Germline - - - - - DNA SEQ-NG ThuongHa - MRX;IDX - PubMed: Kumar 2016, Journal: Kumar 2016 6-generation family with mutliple affected M no Australia - - - - - 10 Thuong Ha
+/. - c.792+1G>A r.spl p.? Maternal (inferred) - pathogenic g.69964014C>T g.70744164C>T NM_001003811.1:c.792+1G>A - TEX11_000057 - PubMed: Yatsenko 2015, Journal: Yatsenko 2015 - - Germline - 1/240 cases - - - DNA SEQ - - SPGF Pat5 PubMed: Yatsenko 2015, Journal: Yatsenko 2015 - M - Germany Arab - - - - 1 Johan den Dunnen
-?/. - c.821A>G r.(?) p.(Asn274Ser) Unknown - likely benign g.69960618T>C - TEX11(NM_001003811.1):c.821A>G (p.N274S) - TEX11_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.943G>A r.(?) p.(Glu315Lys) Parent #1 - VUS g.69945139C>T - E300K - TEX11_000006 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - DNA SEQ - - MRX;IDX 19377437-Pat? PubMed: Tarpey 2009 - - - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
+/. - c.971-1G>A r.spl? p.? Unknown - pathogenic g.69942547C>T g.70722697C>T TEX11(NM_001003811.2):c.971-1G>A - TEX11_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1076C>A r.(?) p.(Thr359Lys) Unknown - likely benign g.69902649G>T - TEX11(NM_001003811.1):c.1076C>A (p.T359K) - TEX11_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1112T>C r.(?) p.(Ile371Thr) Unknown - likely benign g.69902613A>G - TEX11(NM_031276.3):c.1067T>C (p.(Ile356Thr)) - TEX11_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1202-4del r.spl? p.? Unknown - likely benign g.69898755del g.70678905del TEX11(NM_001003811.1):c.1202-4del (p.?) - TEX11_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1202-3del r.spl? p.(=) Maternal (inferred) - VUS g.69898742del g.70678892del - - TEX11_000031 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
-?/. - c.1306G>A r.(?) p.(E436K) Parent #1 - likely benign g.69890346C>T g.70670496C>T - - TEX11_000001 recurrent, found 8 times PubMed: Tarpey 2009 - - Germline - 8/208 cases - - - DNA SEQ - - MRX;IDX 19377432-Pat? PubMed: Tarpey 2009 - - - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 8 Lucy Raymond
-/. 15 c.1351G>A r.(?) p.(Glu451Lys) Unknown - benign g.69890301C>T g.70670451C>T NM_001003811.1:c.1351G>A - TEX11_000056 - PubMed: Yatsenko 2015, Journal: Yatsenko 2015 - - Germline - - - - - DNA SEQ - - Healthy/Control - PubMed: Yatsenko 2015, Journal: Yatsenko 2015 controls and patients M - Germany - - - - - 1 Johan den Dunnen
-?/. 17i c.1426-4563_1426-4562del r.(?) p.(=) Maternal (confirmed) - likely benign g.69875981_69875982del g.70656131_70656132del 1426-4564_1426-4562delTA - TEX11_000008 - PubMed: Kumar 2016, Journal: Kumar 2016 - - Germline - - - - - DNA SEQ-NG ThuongHa - MRX;IDX - PubMed: Kumar 2016, Journal: Kumar 2016 6-generation family with mutliple affected M no Australia - - - - - 10 Thuong Ha
?/. - c.1426-190A>G r.(=) p.(=) Maternal (inferred) - VUS g.69871592T>C g.70651742T>C - - TEX11_000019 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.1426-190A>G r.(=) p.(=) Maternal (inferred) - VUS g.69871592T>C g.70651742T>C - - TEX11_000019 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
-?/. - c.1529-9311C>G r.(?) p.(=) Maternal (confirmed) - likely benign g.69858896G>C g.70639046G>C - - TEX11_000032 - PubMed: Kumar 2016, Journal: Kumar 2016 - - Germline - - - - - DNA SEQ-NG ThuongHa - MRX;IDX - PubMed: Kumar 2016, Journal: Kumar 2016 6-generation family with mutliple affected M no Australia - - - - - 10 Thuong Ha
-?/. - c.1571A>G r.(?) p.(Glu524Gly) Unknown - likely benign g.69849543T>C - TEX11(NM_001003811.1):c.1571A>G (p.(Glu524Gly)) - TEX11_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1654-174C>T r.(=) p.(=) Maternal (inferred) - VUS g.69844948G>A g.70625098G>A - - TEX11_000017 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.1654-174C>T r.(=) p.(=) Maternal (inferred) - VUS g.69844948G>A g.70625098G>A - - TEX11_000017 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.1654-23C>T r.(=) p.(=) Maternal (inferred) - VUS g.69844797G>A g.70624947G>A - - TEX11_000014 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.1654-23C>T r.(=) p.(=) Maternal (inferred) - VUS g.69844797G>A g.70624947G>A - - TEX11_000014 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
+?/. - c.1837+1G>C r.spl p.? Maternal (inferred) - likely pathogenic g.69830352C>G g.70610502C>G NM_001003811.1:c.1837+1G>C - TEX11_000055 - PubMed: Yatsenko 2015, Journal: Yatsenko 2015 - - Germline - 1/240 cases - - - DNA SEQ - - SPGF Pat4 PubMed: Yatsenko 2015, Journal: Yatsenko 2015 - M - Germany white - - - - 1 Johan den Dunnen
+/. 22 c.1924G>C r.(?) p.(Ala642Pro) Maternal (confirmed) - pathogenic g.69828941C>G g.70609091C>G chrX:g.69828941C>G - TEX11_000007 - - - - Germline - 1/208 cases - - - DNA SEQ - - SPGF6 - - male infertility M - China Han Chinese - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Fei Wang
?/. - c.1925-343C>T r.(=) p.(=) Maternal (inferred) - VUS g.69827222G>A g.70607372G>A - - TEX11_000013 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
+/. - c.2092G>A r.(?) p.(Ala698Thr) Maternal (inferred) - pathogenic g.69825271C>T - - - TEX11_000059 - PubMed: Yatsenko 2015, Journal: Yatsenko 2015 - rs140984555 Germline - - - - - DNA SEQ - - SPGF Pat7 PubMed: Yatsenko 2015, Journal: Yatsenko 2015 - M - Germany black - - - - 1 Johan den Dunnen
?/. - c.2113-171C>A r.(=) p.(=) Maternal (inferred) - VUS g.69811844G>T g.70591994G>T - - TEX11_000010 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.2113-171C>A r.(=) p.(=) Maternal (inferred) - VUS g.69811844G>T g.70591994G>T - - TEX11_000010 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
-?/. - c.2129G>A r.(?) p.(Arg710His) Unknown - likely benign g.69811657C>T g.70591807C>T TEX11(NM_001003811.1):c.2129G>A (p.R710H) - TEX11_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 26i c.2185+185C>T r.(?) p.(=) Maternal (inferred) - likely benign g.69811416G>A g.70591566G>A - - TEX11_000015 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
-?/. 26i c.2185+185C>T r.(?) p.(=) Maternal (inferred) - likely benign g.69811416G>A g.70591566G>A - - TEX11_000015 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
-?/. - c.2239G>A r.(?) p.(Val747Ile) Unknown - likely benign g.69774597C>T g.70554747C>T TEX11(NM_001003811.1):c.2239G>A (p.V747I) - TEX11_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2288T>C r.(?) p.(Val763Ala) Unknown - VUS g.69774548A>G - - - TEX11_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 27 c.2319T>A r.(?) p.(=) Maternal (inferred) - likely benign g.69774517A>T g.70554667A>T - - TEX11_000012 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
-?/. 27 c.2319T>A r.(?) p.(=) Maternal (inferred) - likely benign g.69774517A>T g.70554667A>T - - TEX11_000012 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
-?/. 27i c.2335+260G>A r.(?) p.(=) Maternal (inferred) - likely benign g.69774241C>T g.70554391C>T - - TEX11_000011 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
-?/. - c.2406C>G r.(?) p.(Leu802=) Unknown - likely benign g.69773194G>C - TEX11(NM_001003811.1):c.2406C>G (p.L802=) - TEX11_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2496T>C r.(?) p.(=) Parent #1 - likely benign g.69772045A>G g.70552195A>G p.D832D - TEX11_000002 recurrent, found 9 times PubMed: Tarpey 2009 - - Germline - 9/208 cases - - - DNA SEQ - - MRX;IDX 19377433-Pat? PubMed: Tarpey 2009 - - - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 9 Lucy Raymond
-/. 27 c.2541T>C r.(652_888del) p.(Asp847=) Unknown - benign g.69772000A>G g.70552150A>G NM_001003811.1:c.2541T>C - TEX11_000054 - PubMed: Yatsenko 2015, Journal: Yatsenko 2015 - - Germline - - - - - DNA SEQ - - Healthy/Control - PubMed: Yatsenko 2015, Journal: Yatsenko 2015 controls and patients M - Germany - - - - - 1 Johan den Dunnen
-?/. - c.2541T>G r.(?) p.(Asp847Glu) Unknown - likely benign g.69772000A>C - TEX11(NM_031276.3):c.2496T>G (p.(Asp832Glu)) - TEX11_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2566-211G>A r.(=) p.(=) Maternal (inferred) - VUS g.69750060C>T g.70530210C>T - - TEX11_000024 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.2566-211G>A r.(=) p.(=) Maternal (inferred) - VUS g.69750060C>T g.70530210C>T - - TEX11_000024 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
-/. 27i c.2566-4A>T r.spl p.(=) Unknown - benign g.69749853T>A g.70530003T>A NM_001003811.1:c.2566-4A>T - TEX11_000053 - PubMed: Yatsenko 2015, Journal: Yatsenko 2015 - - Germline - - - - - DNA SEQ - - Healthy/Control - PubMed: Yatsenko 2015, Journal: Yatsenko 2015 controls and patients M - Germany - - - - - 1 Johan den Dunnen
-/. 27i c.2566-3T>C r.spl p.(=) Unknown - benign g.69749852A>G g.70530002A>G NM_001003811.1:c.2566-3T>C - TEX11_000052 - PubMed: Yatsenko 2015, Journal: Yatsenko 2015 - - Germline - - - - - DNA SEQ - - Healthy/Control - PubMed: Yatsenko 2015, Journal: Yatsenko 2015 controls and patients M - Germany - - - - - 1 Johan den Dunnen
-?/. - c.2684G>A r.(?) p.(Arg895His) Unknown - likely benign g.69749731C>T - TEX11(NM_001003811.1):c.2684G>A (p.R895H) - TEX11_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 30i c.2731-102C>T r.(?) p.(=) Maternal (inferred) - likely benign g.69749139G>A g.70529289G>A - - TEX11_000009 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
-?/. 30i c.2731-102C>T r.(?) p.(=) Maternal (inferred) - likely benign g.69749139G>A g.70529289G>A - - TEX11_000009 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
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