Full data view for gene TTN

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

3599 entries on 36 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

Class.     

RNA change     

Protein     

Allele     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Germline/De novo/Somatic     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

Individual_ID     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age/Death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-?/. 18 c.(2927_2928)G>A - r.(=) p.(Trp976Arg) Parent #2 g.(179647705_179647706)C>T - - - TTN_000000 - PubMed: Herman 2012 - - Germline - - - 0 - DNA SEQ, SEQ-NG - - CMD - - 2-generation family, 1 affected, 3 heterozygous carriers F - (United States) - >36y 0 - - 3 Johan den Dunnen
-/. 43i c.10115-1712AC[(16_18)] - r.(?) p.(=) Unknown g.179625611GT([16_18)] - 10115AC(16_18) - TTN_000525 sequence comparison - - - Germline - - - 0 - DNA SEQ - - Healthy/Control - - GenBank - - - - - 0 - - 1 Johan den Dunnen
-/. 61i c.17740+64A[(10_11)] - r.(=) p.(=) Parent #1 g.179595588T[(10_11)] - 17740+64A(10_11) - TTN_000016 sequence comparison - - - Germline - - - 0 - DNA SEQ - - Healthy/Control - - GenBank - - - - - 0 - - 1 Johan den Dunnen
-/. 93i c.26762-40TTTTG[(5_9)] - r.(=) p.(=) Parent #1 g.delCAAAA[(5_9)] - - - TTN_000017 sequence comparison - - - Germline - - - 0 - DNA SEQ - - Healthy/Control - - GenBank - - - - - 0 - - 1 Johan den Dunnen
-/. 111i c.30598+153A[(11_12)] - r.(=) p.(=) Parent #1 g.179566102T[(11_12)] - - - TTN_000018 sequence comparison - - - Germline - - - 0 - DNA SEQ - - Healthy/Control - - GenBank - - - - - 0 - - 1 Johan den Dunnen
-/. 128i c.32312-540A[(22_25)] - r.(=) p.(=) Unknown g.179550865T[(22_25)] - 32354-540A(22_25) - TTN_000526 sequence comparison - - - Germline - - - 0 - DNA SEQ - - Healthy/Control - - GenBank - - - - - 0 - - 1 Johan den Dunnen
-/. 20i c.3380+283AC[(12_13)] - r.(=) p.(=) Parent #1 g.179646656GT[(12_13)] - - - TTN_000013 sequence comparison - - - Germline - - - 0 - DNA SEQ - - Healthy/Control - - GenBank - - - - - 0 - - 1 Johan den Dunnen
-/. 147i c.34292-74AT[(13_16)] - r.(=) p.(=) Unknown g.179542088TA[(13_16)] - 34333+260AT(13_16) - TTN_000527 sequence comparison - - - Germline - - - 0 - DNA SEQ - - Healthy/Control - - GenBank - - - - - 0 - - 1 Johan den Dunnen
-/. 37i c.8902+14TA[(8_9)] - r.(=) p.(=) Parent #1 g.179634392TA[(8_9)] - - - TTN_000014 sequence comparison - - - Germline - - - 0 - DNA SEQ - - Healthy/Control - - GenBank - - - - - 0 - - 1 Johan den Dunnen
?/. ? c.? - r.? p.? Parent #2 g.? - - - TTN_000000 - - - - Unknown - - - 0 - DNA SEQ - - LGMD - PubMed: Udd 2005, PubMed: Evila 2014 - ? no Finland - - 0 - - 1 Johan den Dunnen
./. - c.33G>A - r.(=) p.(=) Unknown g.179669337C>T - TTN:c.33G>A (=) - TTN_003556 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
./. - c.33G>A - r.(=) p.(=) Unknown g.179669337C>T - TTN:c.33G>A (=) - TTN_003556 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 2i c.91+5G>A - r.(spl?) p.(?) Parent #1 g.179669274C>T g.178804547C>T IVS2+5G>A - TTN_000120 - PubMed: Greenman 2007 - - Germline - - - 0 - DNA SEQ - - Healthy/Control - - - - - - - - 0 - - 1 Johan den Dunnen
+/. 3 c.160G>A - r.(?) p.(Val54Met) Paternal (confirmed) g.179667000C>T g.178802273C>T G>A Val54Met - TTN_000008 not in 520 control chromosomes; change decreases affinity for TCAP PubMed: Itoh-Satoh 2002, OMIM:var0008 - - Germline - - - 0 - DNA SEQ - - CMD - - father died of CMD F - Japan - >19y 0 - - 2 Johan den Dunnen
+?/. 3 c.160G>A - - p.Val54Met Unknown g.179667000C>T g.178802273C>T - - TTN_000008 expression cloning, Y2H 0.40 reduced TCAP binding PubMed: Itoh-Satoh 2002 - - In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. 3 c.178G>T - r.(?) p.(Asp60Tyr) Unknown g.179666982C>A g.178802255C>A - - TTN_000447 - PubMed: Greenman 2007 - - Germline - - - 0 - DNA SEQ - - cancer - - - - - - - - 0 - - 3 Johan den Dunnen
./. - c.178G>T - r.(?) p.(Asp60Tyr) Unknown g.179666982C>A - TTN:c.178G>T (D60Y) - TTN_000447 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
./. - c.178G>T - r.(?) p.(Asp60Tyr) Unknown g.179666982C>A - TTN:c.178G>T (D60Y) - TTN_000447 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
./. - c.178G>T - r.(?) p.(Asp60Tyr) Unknown g.179666982C>A - TTN:c.178G>T (D60Y) - TTN_000447 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
./. - c.180T>C - r.(=) p.(=) Unknown g.179666980A>G - TTN:c.180T>C (=) - TTN_003553 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
./. - c.180T>C - r.(=) p.(=) Unknown g.179666980A>G - TTN:NM_001256850.1:c.180T>C, NM_001267550.1:c.180T>C, … - TTN_003553 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/? 3i c.296-14T>C - r.(?) p.(=) Parent #1 g.179665423A>G g.178800696A>G - - TTN_000632 - PubMed: Vrijenhoek 2015, Journal: Vrijenhoek 2015 - - Unknown ? - - 0 - DNA SEQ, SEQ-NG leukocyte - CMH - - - ? ? Netherlands Caucasian - 0 - - 1 Terry Vrijenhoek
./. - c.296-14T>C - r.(=) p.(=) Unknown g.179665423A>G - TTN:c.296-14T>C - TTN_000632 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
./. - c.296-14T>C - r.(=) p.(=) Unknown g.179665423A>G - TTN:c.296-14T>C - TTN_000632 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
./. - c.296-14T>C - r.(=) p.(=) Unknown g.179665423A>G - TTN:c.296-14T>C - TTN_000632 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
./. - c.296-14T>C - r.(=) p.(=) Unknown g.179665423A>G - TTN:c.296-14T>C - TTN_000632 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. 4 c.325C>T - r.(?) p.(Arg109*) Parent #1 g.179665380G>A g.178800653G>A - - TTN_000716 - PubMed: Roberts 2015, Journal: Roberts 2015 - - Germline - 1/667 controls - 0 - DNA SEQ - - Healthy/Control - PubMed: Roberts 2015, Journal: Roberts 2015 667 controls Women’s Health Initiative - - United States European - 0 - - 1 Johan den Dunnen
?/. 4 c.343G>A - r.(?) p.(Val115Met) Unknown g.179665362C>T g.178800635C>T NM_003319.4:343G>A (V115M) - TTN_000134 - PubMed: Greenman 2007 - - Somatic - - - 0 - DNA SEQ - - cancer - - - - - - - - 0 - - 1 Johan den Dunnen
?/. 4 c.426C>T - r.(?) p.(=) Unknown g.179665279G>A g.178800552G>A NM_003319.4:426C>T (A142A) - TTN_000232 - PubMed: Greenman 2007 - - Germline - - - 0 - DNA SEQ - - cancer - - - - - - - - 0 - - 1 Johan den Dunnen
./. - c.426C>T - r.(=) p.(=) Unknown g.179665279G>A - TTN:c.426C>T (=) - TTN_000232 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
./. - c.426C>T - r.(=) p.(=) Unknown g.179665279G>A - TTN:c.426C>T (=) - TTN_000232 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
./. - c.426C>T - r.(=) p.(=) Unknown g.179665279G>A - TTN:c.426C>T (=) - TTN_000232 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
./. - c.542G>A - r.(?) p.(Ser181Asn) Unknown g.179665163C>T - TTN:c.542G>A (S181N) - TTN_003548 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
./. - c.542G>A - r.(?) p.(Ser181Asn) Unknown g.179665163C>T - TTN:c.542G>A (S181N) - TTN_003548 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
./. - c.542G>A - r.(?) p.(Ser181Asn) Unknown g.179665163C>T - TTN:c.542G>A (S181N) - TTN_003548 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
./. - c.593_595del - r.(?) p.(Glu198del) Unknown g.179664626_179664628del - TTN:c.593_595delAAG (E198del) - TTN_003545 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
./. - c.617C>A - r.(?) p.(Thr206Lys) Unknown g.179664604G>T - TTN:c.617C>A (T206K) - TTN_003544 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
./. - c.617C>A - r.(?) p.(Thr206Lys) Unknown g.179664604G>T - TTN:NM_001256850.1:c.617C>A, NM_001267550.1:c.617C>A, … - TTN_003544 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
./. - c.687T>C - r.(=) p.(=) Unknown g.179664441A>G - TTN:c.687T>C (=) - TTN_003539 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
./. - c.687T>C - r.(=) p.(=) Unknown g.179664441A>G - TTN:c.687T>C (=) - TTN_003539 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 6 c.755A>G - r.(?) p.(Lys252Arg) Unknown g.179664373T>C g.178799646T>C NM_003319:c.A755G - TTN_000782 - PubMed: Lopes 2013, Journal: Lopes 2013 - - Germline - 1/223 cases HCM - 0 - DNA SEQ - - CMH - PubMed: Lopes 2013, Journal: Lopes 2013 analysis of 223 cases - - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
?/. 6 c.765_776del - r.(?) p.(Arg256_Pro259del) Unknown g.179664352_179664363del g.178799625_178799636del NM_003319.4:765_776delCAGGATTCCTCC (R256_K260K) - TTN_000202 - PubMed: Greenman 2007 - - Somatic - - - 0 - DNA SEQ - - cancer - - - - - - - - 0 - - 1 Johan den Dunnen
?/? 6 c.776C>T - r.(?) p.(Pro259Leu) Unknown g.179664352G>A g.178799625G>A - - TTN_000631 - PubMed: Vrijenhoek 2015, Journal: Vrijenhoek 2015 - - Unknown ? - - 0 - DNA SEQ, SEQ-NG leukocyte - CMH - - - ? ? Netherlands Caucasian - 0 - - 1 Terry Vrijenhoek
?/-? 6 c.835C>T - r.(?) p.(Arg279Trp) Parent #1 g.179664293G>A g.178799566G>A - - TTN_000594 - PubMed: van Spaendonck-Zwarts 2014 - - Germline yes - - 0 - DNA SEQ-NG-I - - CMD - PubMed: van Spaendonck-Zwarts 2014 4-generation family with 6 affecteds M no Netherlands - - 0 - - 6 Claire Chauveau
./. - c.835C>T - r.(?) p.(Arg279Trp) Unknown g.179664293G>A - TTN:c.835C>T (R279W) - TTN_000594 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
./. - c.835C>T - r.(?) p.(Arg279Trp) Unknown g.179664293G>A - TTN:c.835C>T (R279W) - TTN_000594 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
./. - c.970C>T - r.(?) p.(Pro324Ser) Unknown g.179659924G>A - TTN:c.970C>T (P324S) - TTN_003535 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
./. - c.970C>T - r.(?) p.(Pro324Ser) Unknown g.179659924G>A - TTN:c.970C>T (P324S) - TTN_003535 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. 7 c.982C>T - r.(?) p.(Arg328Cys) Parent #1 g.179659912G>A g.178795185G>A - - TTN_000029 in cases and controls PubMed: Itoh-Satoh 2002 - - Germline - - - 0 - DNA SEQ - - Healthy/Control - - - - - Japan - - 0 - - 1 Johan den Dunnen
-/. 7 c.982C>T - r.(?) p.(Arg328Cys) Unknown g.179659912G>A g.178795185G>A - - TTN_000029 - PubMed: Greenman 2007 - - Germline - - - 0 - DNA SEQ - - cancer - - - - - - - - 0 - - 48 Johan den Dunnen
./. - c.1003G>A - r.(?) p.(Val335Met) Unknown g.179659891C>T - TTN:c.1003G>A (V335M) - TTN_003533 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
./. - c.1003G>A - r.(?) p.(Val335Met) Unknown g.179659891C>T - TTN:c.1003G>A (V335M) - TTN_003533 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
./. - c.1050C>T - r.(=) p.(=) Unknown g.179659844G>A - TTN:c.1050C>T (=) - TTN_003532 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
./. - c.1050C>T - r.(=) p.(=) Unknown g.179659844G>A - TTN:c.1050C>T (=) - TTN_003532 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 7 c.1079G>C - r.(?) p.(Arg360Thr) Unknown g.179659815C>G g.178795088C>G NM_003319.4:1079G>C (R360T) - TTN_000248 - PubMed: Greenman 2007 - - Germline - - - 0 - DNA SEQ - - cancer - - - - - - - - 0 - - 1 Johan den Dunnen
./. - c.1089G>A - r.(=) p.(=) Unknown g.179659805C>T - TTN:c.1089G>A (=) - TTN_003530 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
./. - c.1089G>A - r.(=) p.(=) Unknown g.179659805C>T - TTN:c.1089G>A (=) - TTN_003530 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 7 c.1137A>G - r.(?) p.(=) Parent #1 g.179659757T>C g.178795030T>C NM_003319.4:1137A>G (R379R) - TTN_000230 - PubMed: Greenman 2007 - - Germline - - - 0 - DNA SEQ - - cancer - - - - - - - - 0 - - 1 Johan den Dunnen
?/. 7 c.1221G>A - r.(?) p.(Glu407=) Unknown g.179659673C>T g.178794946C>T NM_003319.4:1221G>A (E407E) - TTN_000401 - PubMed: Greenman 2007 - - Germline - - - 0 - DNA SEQ - - cancer - - - - - - - - 0 - - 2 Johan den Dunnen
+?/. 7i c.1245+3A>G - r.spl? p.? Parent #1 g.179659646T>C g.178794919T>C - - TTN_000715 - PubMed: Roberts 2015, Journal: Roberts 2015 - - Germline - 1/1623 individuals - 0 - DNA SEQ - - Healthy/Control - PubMed: Roberts 2015, Journal: Roberts 2015 1623 FHS offspring chort - - United States - - 0 - - 1 Johan den Dunnen
./. - c.1245+20G>T - r.(=) p.(=) Unknown g.179659629C>A - TTN:c.1245+20G>T - TTN_003525 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
./. - c.1245+20G>T - r.(=) p.(=) Unknown g.179659629C>A - TTN:c.1245+20G>T - TTN_003525 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. 7i c.1246-49C>G - r.(?) p.(=) Parent #1 g.179659327G>C g.178794600G>C 179659327G>C - TTN_000584 present in controls PubMed: Pfeffer 2012 - - Germline yes - - 0 - DNA SEQ, SEQ-NG - - HMERF - PubMed: Chinnery 2001, PubMed: Pfeffer 2012 6-generation family, 24 affecteds (15F, 9M) - no United Kingdom (Great Britain) - - 0 - - 24 Claire Chauveau
./. - c.1246-16G>A - r.(=) p.(=) Unknown g.179659294C>T - TTN:c.1246-16G>A - TTN_003524 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
./. - c.1246-16G>A - r.(=) p.(=) Unknown g.179659294C>T - TTN:c.1246-16G>A - TTN_003524 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
./. - c.1246-16G>A - r.(=) p.(=) Unknown g.179659294C>T - TTN:c.1246-16G>A - TTN_003524 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
./. - c.1246-16G>A - r.(=) p.(=) Unknown g.179659294C>T - TTN:NM_001256850.1:c.1246-16G>A, NM_001267550.1:c.1246-16G>A, … - TTN_003524 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 7i c.1246-3delT - r.(spl?) p.(=) Unknown g.179659281delA g.178794554delA chr2:g.179659281delA - TTN_000052 - PubMed: Herman 2012 - - Germline - - - 0 - DNA SEQ, SEQ-NG - - Healthy/Control - - - - - (United States) - - 0 - - 1 Johan den Dunnen
./. - c.1297G>A - r.(?) p.(Val433Ile) Unknown g.179659227C>T - TTN:c.1297G>A (V433I) - TTN_003522 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
./. - c.1297G>A - r.(?) p.(Val433Ile) Unknown g.179659227C>T - TTN:c.1297G>A (V433I) - TTN_003522 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
./. - c.1333G>A - r.(?) p.(Ala445Thr) Unknown g.179659191C>T - TTN:c.1333G>A (A445T) - TTN_003520 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
./. - c.1333G>A - r.(?) p.(Ala445Thr) Unknown g.179659191C>T - TTN:c.1333G>A (A445T) - TTN_003520 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 8i c.1398+4C>T - r.(spl?) p.(?) Unknown g.179659122G>A g.178794395G>A - - TTN_000569 - PubMed: Lopes 2013 - - Unknown - - - 0 - DNA SEQ-NG-I - - CMH - PubMed: Lopes 2013 - - - - - - 0 - - 1 Claire Chauveau
?/. 8i c.1398+4C>T - r.spl? p.? Unknown g.179659122G>A g.178794395G>A NM_133437:c.C1398+4T - TTN_000569 - PubMed: Lopes 2013, Journal: Lopes 2013 - - Germline - 1/223 cases HCM - 0 - DNA SEQ - - CMH - PubMed: Lopes 2013, Journal: Lopes 2013 analysis of 223 cases - - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
./. - c.1398+8C>T - r.(=) p.(=) Unknown g.179659118G>A - TTN:c.1398+8C>T - TTN_003518 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
./. - c.1398+8C>T - r.(=) p.(=) Unknown g.179659118G>A - TTN:c.1398+8C>T - TTN_003518 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
./. - c.1398+16C>T - r.(=) p.(=) Unknown g.179659110G>A - TTN:c.1398+16C>T - TTN_003517 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
./. - c.1398+16C>T - r.(=) p.(=) Unknown g.179659110G>A - TTN:c.1398+16C>T - TTN_003517 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
./. - c.1398+16C>T - r.(=) p.(=) Unknown g.179659110G>A - TTN:c.1398+16C>T - TTN_003517 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. 9 c.1492G>A - r.(?) p.(Val498Ile) Unknown g.179658175C>T g.178793448C>T - - TTN_000509 - PubMed: Greenman 2007 - - Germline - - - 0 - DNA SEQ - - cancer - - - - - - - - 0 - - 8 Johan den Dunnen
./. - c.1492G>A - r.(?) p.(Val498Ile) Unknown g.179658175C>T - TTN:c.1492G>A (V498I) - TTN_000509 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
./. - c.1492G>A - r.(?) p.(Val498Ile) Unknown g.179658175C>T - TTN:c.1492G>A (V498I) - TTN_000509 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
./. - c.1492G>A - r.(?) p.(Val498Ile) Unknown g.179658175C>T - TTN:c.1492G>A (V498I) - TTN_000509 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
./. - c.1492G>A - r.(?) p.(Val498Ile) Unknown g.179658175C>T - TTN:c.1492G>A (V498I) - TTN_000509 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
./. - c.1492G>A - r.(?) p.(Val498Ile) Unknown g.179658175C>T - TTN:NM_001256850.1:c.1492G>A, NM_001267550.1:c.1492G>A, … - TTN_000509 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
./. - c.1537-4G>A - r.spl? p.? Unknown g.179656928C>T - TTN:c.1537-4G>A - TTN_003510 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
./. - c.1537-4G>A - r.spl? p.? Unknown g.179656928C>T - TTN:c.1537-4G>A - TTN_003510 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
./. - c.1560A>G - r.(=) p.(=) Unknown g.179656901T>C - TTN:c.1560A>G (=) - TTN_003509 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
./. - c.1560A>G - r.(=) p.(=) Unknown g.179656901T>C - TTN:c.1560A>G (=) - TTN_003509 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
./. - c.1920G>A - r.(=) p.(=) Unknown g.179654723C>T - TTN:c.1920G>A (=) - TTN_003501 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
./. - c.1920G>A - r.(=) p.(=) Unknown g.179654723C>T - TTN:c.1920G>A (=) - TTN_003501 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
./. - c.1938+10G>C - r.(=) p.(=) Unknown g.179654695C>G - TTN:c.1938+10G>C - TTN_003500 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
./. - c.1938+10G>C - r.(=) p.(=) Unknown g.179654695C>G - TTN:c.1938+10G>C - TTN_003500 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
./. - c.1938+10G>C - r.(=) p.(=) Unknown g.179654695C>G - TTN:c.1938+10G>C - TTN_003500 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
./. - c.1938+10G>C - r.(=) p.(=) Unknown g.179654695C>G - TTN:c.1938+10G>C - TTN_003500 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 14 c.2218C>A - r.(?) p.(Arg740Ser) Unknown g.179650727G>T g.178786000G>T NM_003319:c.C2080A - TTN_000955 - PubMed: Lopes 2013, Journal: Lopes 2013 - - Germline - 1/223 cases HCM - 0 - DNA SEQ - - CMH - PubMed: Lopes 2013, Journal: Lopes 2013 analysis of 223 cases - - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
+/. 14 c.2219G>T - r.(?) p.(Arg740Leu) Parent #1 g.179650726C>A g.178785999C>A G>T Arg740Leu - TTN_000001 not in 520 normal chromosomes; ex14 Z-repeat 7 PubMed: Satoh 1999, OMIM:var0001 - - Germline - - - 0 - DNA SEQ - - CMH - - increased TTN binding affinity for alpha-actinin M - Japan - >63y 0 - - 1 Johan den Dunnen
+/. 14 c.2219G>T - r.(?) p.Arg740Leu Unknown g.179650726C>A g.178785999C>A G>T Arg740Leu - TTN_000001 expression cloning, YTH reduced alpha-actinin binding PubMed: Satoh 1999 - - In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 14 c.2226C>A - r.(?) p.(=) Parent #1 g.179650719G>T g.178785992G>T (S696S) - TTN_000329 - PubMed: Greenman 2007 - - Germline - - - 0 - DNA SEQ - - cancer - - - - - - - - 0 - - 1 Johan den Dunnen
+/. 14 c.2228C>T - r.(?) p.(Ala743Val) Parent #1 g.179650717G>A g.178785990G>A G>C Ala743Val - TTN_000007 not in 520 control chromosomes PubMed: Itoh-Satoh 2002, OMIM:var0007 - - Germline - - - 0 - DNA SEQ - - CMD - - 2-generation family, father and daugher M - Japan - >40y 0 - - 1 Johan den Dunnen
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