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.

1328 entries on 14 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     

dbSNP ID     

Germline/Somatic/De novo     

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
?/. 2i c.91+5G>A - r.(spl?) p.(?) Parent #1 g.179669274C>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>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 - - - 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 - - - TTN_000447 - PubMed: Greenman 2007 - Germline - - - 0 - DNA SEQ - - cancer - - - - - - - - 0 - - 3 Johan den Dunnen
?/? 3i c.296-14T>C - r.(?) p.(=) Parent #1 g.179665423A>G - - - TTN_000632 - PubMed: Vrijenhoek 2015, Journal: Vrijenhoek 2015 - Unknown ? - - 0 - DNA SEQ, SEQ-NG leukocyte - CMH - - - ? ? Netherlands Caucasian - 0 - - 1 Terry Vrijenhoek
+?/. 4 c.325C>T - r.(?) p.(Arg109*) Parent #1 g.179665380G>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 - 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 - NM_003319.4:426C>T (A142A) - TTN_000232 - PubMed: Greenman 2007 - Germline - - - 0 - DNA SEQ - - cancer - - - - - - - - 0 - - 1 Johan den Dunnen
?/. 6 c.755A>G - r.(?) p.(Lys252Arg) Unknown g.179664373T>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 - 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 - - - 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 - - - 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
-/. 7 c.982C>T - r.(?) p.(Arg328Cys) Parent #1 g.179659912G>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 - - - TTN_000029 - PubMed: Greenman 2007 - Germline - - - 0 - DNA SEQ - - cancer - - - - - - - - 0 - - 48 Johan den Dunnen
?/. 7 c.1079G>C - r.(?) p.(Arg360Thr) Unknown g.179659815C>G - NM_003319.4:1079G>C (R360T) - TTN_000248 - PubMed: Greenman 2007 - Germline - - - 0 - DNA SEQ - - cancer - - - - - - - - 0 - - 1 Johan den Dunnen
?/. 7 c.1137A>G - r.(?) p.(=) Parent #1 g.179659757T>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 - 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 - - - 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
-?/. 7i c.1246-49C>G - r.(?) p.(=) Parent #1 g.179659327G>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
?/. 7i c.1246-3delT - r.(spl?) p.(=) Unknown g.179659281delA - chr2:g.179659281delA - TTN_000052 - PubMed: Herman 2012 - Germline - - - 0 - DNA SEQ, SEQ-NG - - Healthy/Control - - - - - (United States) - - 0 - - 1 Johan den Dunnen
?/. 8i c.1398+4C>T - r.(spl?) p.(?) Unknown g.179659122G>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 - 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
-/. 9 c.1492G>A - r.(?) p.(Val498Ile) Unknown g.179658175C>T - - - TTN_000509 - PubMed: Greenman 2007 - Germline - - - 0 - DNA SEQ - - cancer - - - - - - - - 0 - - 8 Johan den Dunnen
?/. 14 c.2218C>A - r.(?) p.(Arg740Ser) Unknown g.179650727G>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>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>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 - (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>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
+/. 14 c.2228C>T - r.(?) p.(Ala743Val) Parent #1 g.179650717G>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, daugher F - Japan - 16y 0 - - 1 Johan den Dunnen
+/. 14 c.2228C>T - r.(?) p.Ala743Val Unknown g.179650717G>A - - - TTN_000007 expression cloning, YTH 0.40 reduced alpha-actinin binding PubMed: Itoh-Satoh 2002 - In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
-/. 14 c.2244G>A - r.(?) p.(=) Unknown g.179650701C>T - NM_003319.4:2106G>A (E702E) - TTN_000496 - PubMed: Greenman 2007 - Germline - - - 0 - DNA SEQ - - cancer - - - - - - - - 0 - - 64 Johan den Dunnen
-?/. 14 c.2244G>A - r.(?) p.(Glu748=) Parent #1 g.179650701C>T - - - TTN_000496 - PubMed: Pfeffer 2012 rs6715406 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
?/. 15 c.2396C>T - r.(?) p.(Thr799Met) Unknown g.179650444G>A - NM_003319.4:2258C>T (T753M) - TTN_000305 - PubMed: Greenman 2007 - Somatic - - - 0 - DNA SEQ - - cancer - - - - - - - - 0 - - 1 Johan den Dunnen
-/. 15 c.2432C>T - r.(?) p.(Thr811Ile) Unknown g.179650408G>A - NM_003319.4:2294C>T (T765I) - TTN_000467 - PubMed: Greenman 2007 - Germline - - - 0 - DNA SEQ - - cancer - - - - - - - - 0 - - 37 Johan den Dunnen
-?/. 15 c.2432C>T - r.(?) p.(Thr811Ile) Parent #1 g.179650408G>A - - - TTN_000467 - PubMed: Pfeffer 2012 rs35813871 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
+?/. 16 c.2494G>T - r.(?) p.(Ala832Ser) Parent #1 g.179649078C>A - - - TTN_000714 - PubMed: Roberts 2015, Journal: Roberts 2015 - Germline - 1/1980 individuals - 0 - DNA SEQ - - Healthy/Control - PubMed: Roberts 2015, Journal: Roberts 2015 1980 individuals JHS cohort - - United States - - 0 - - 1 Johan den Dunnen
?/. 16 c.2765G>A - r.(?) p.(Arg922His) Unknown g.179648807C>T - NM_003319.4:2627G>A (R876H) - TTN_000363 - PubMed: Greenman 2007 - Germline - - - 0 - DNA SEQ - - cancer - - - - - - - - 0 - - 1 Johan den Dunnen
?/. 17 c.2781A>C - r.(?) p.(=) Unknown g.179648507T>G - NM_003319.4:2643A>C (T881T) - TTN_000366 - PubMed: Greenman 2007 - Germline - - - 0 - DNA SEQ - - cancer - - - - - - - - 0 - - 1 Johan den Dunnen
?/. 17 c.2811A>C - r.(?) p.(Glu937Asp) Parent #1 g.179648477T>G - NM_003319.4:2673A>C (E891D) - TTN_000296 - PubMed: Greenman 2007 - Somatic - - - 0 - DNA SEQ - - cancer - - - - - - - - 0 - - 1 Johan den Dunnen
+?/. 17 c.2841G>T - r.(=) p.(=) Parent #1 g.179648447C>A - - - TTN_000713 - PubMed: Roberts 2015, Journal: Roberts 2015 - Germline - 1/1980 individuals - 0 - DNA SEQ - - Healthy/Control - PubMed: Roberts 2015, Journal: Roberts 2015 1980 individuals JHS cohort - - United States - - 0 - - 1 Johan den Dunnen
+/. 18 c.2926T>C - r.(?) p.(Trp976Arg) Parent #1 g.179647707A>G - 2920T>C - TTN_000003 - PubMed: Gerull 2002, OMIM:var0003 - Germline - - - 0 - DNA SEQ - - CMD - - 5-generation family, >12 affecteds - - Germany - - 0 - - 12 Johan den Dunnen
?/. 18 c.2949C>T - r.(?) p.(=) Parent #1 g.179647684G>A - NM_003319.4:2811C>T (I937I) - TTN_000170 - PubMed: Greenman 2007 - Germline - - - 0 - DNA SEQ - - cancer - - - - - - - - 0 - - 1 Johan den Dunnen
?/. 18 c.2967C>A - r.(?) p.(Phe989Leu) Parent #1 g.179647666G>T - NM_003319:c.C2829A - TTN_000954 - 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
-/. 18 c.3087T>C - r.(?) p.(=) Unknown g.179647546A>G - NM_003319.4:2949T>C (Y983Y) - TTN_000435 - PubMed: Greenman 2007 - Germline - - - 0 - DNA SEQ - - cancer - - - - - - - - 0 - - 23 Johan den Dunnen
+?/. 18 c.3100G>A - r.(spl?) p.(Val1034Met?) Parent #1 g.179647533C>T - - - TTN_000054 - PubMed: Herman 2012 - Germline - - - 0 - DNA SEQ, SEQ-NG - - CMD - - - - - (United States) - - 0 - - 1 Johan den Dunnen
+?/. 18 c.3100G>A - r.(spl?) p.(Val1034Met) Parent #1 g.179647533C>T - - - TTN_000054 - PubMed: Herman 2012 - Germline - - - 0 - DNA SEQ, SEQ-NG - - CMH - - - - - (United States) - - 0 - - 1 Johan den Dunnen
+?/. 18 c.3100G>A - r.(?) p.(Val1034Met) Unknown g.179647533C>T - - - TTN_000054 - PubMed: Vasli 2012 - Germline - - - 0 - DNA SEQ-NG - - MD - PubMed: Vasli 2012 - - - - - - 0 - - 1 Claire Chauveau
+?/. 18 c.3100G>A - r.spl? p.(Val1034Met) Parent #1 g.179647533C>T - - - TTN_000054 - PubMed: Roberts 2015, Journal: Roberts 2015 - Germline - 1/155 cases DCM - 0 - DNA SEQ - - CMD - PubMed: Roberts 2015, Journal: Roberts 2015 155 endstage DCM cases - - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
+?/. 18 c.3100G>A - r.spl? p.(Val1034Met) Unknown g.179647533C>T - - - TTN_000054 - PubMed: Roberts 2015, Journal: Roberts 2015 - Germline - 1/155 cases DCM - 0 - DNA SEQ - - CMD - PubMed: Roberts 2015, Journal: Roberts 2015 155 endstage DCM cases - - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
+?/. 18 c.3100G>A - r.spl? p.(Val1034Met) Parent #1 g.179647533C>T - - - TTN_000054 - PubMed: Roberts 2015, Journal: Roberts 2015 - Germline - 1/155 cases DCM - 0 - DNA SEQ - - CMD - PubMed: Roberts 2015, Journal: Roberts 2015 155 endstage DCM cases - - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
+?/. 18 c.3100G>A - r.spl? p.(Val1034Met) Parent #1 g.179647533C>T - - - TTN_000054 - PubMed: Roberts 2015, Journal: Roberts 2015 - Germline - 1/308 controls - 0 - DNA SEQ - - Healthy/Control - PubMed: Roberts 2015, Journal: Roberts 2015 308 healthy volunteers - - - - - 0 - - 1 Johan den Dunnen
+?/. 18 c.3100G>A - r.spl? p.(Val1034Met) Parent #1 g.179647533C>T - - - TTN_000054 - 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
?/. 18 c.3100G>A - r.(?) p.(Val1034Met) Unknown g.179647533C>T - NM_003319:c.G2962A - TTN_000054 - 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
?/. 18i c.3101-2A>T - r.spl p.? Unknown g.179647331T>A - chr2:g.179647331T>A - TTN_000049 - PubMed: Herman 2012 - Germline - - - 0 - DNA SEQ, SEQ-NG - - Healthy/Control - - - - - (United States) - - 0 - - 1 Johan den Dunnen
?/. 20i c.3241G>A - r.(?) p.(Ala1081Thr) Parent #1 g.179647078C>T - NM_003319.4:3103G>A (A1035T) - TTN_000355 - PubMed: Greenman 2007 - Germline - - - 0 - DNA SEQ - - cancer - - - - - - - - 0 - - 1 Johan den Dunnen
?/. 21 c.3388G>C - r.(?) p.(Val1130Leu) Unknown g.179645983C>G - NM_003319:c.G3250C - TTN_000873 - 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
?/. 21 c.3409G>C - r.(?) p.(Gly1137Arg) Parent #1 g.179645962C>G - NM_003319.4:3271G>C (G1091R) - TTN_000172 - PubMed: Greenman 2007 - Germline - - - 0 - DNA SEQ - - cancer - - - - - - - - 0 - - 1 Johan den Dunnen
?/. 21 c.3409G>C - r.(?) p.(Gly1137Arg) Unknown g.179645962C>G - NM_003319:c.G3271C - TTN_000172 - 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
?/. 21 c.3409G>C - r.(?) p.(Gly1137Arg) Unknown g.179645962C>G - NM_003319:c.G3271C - TTN_000172 - 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
-/. 22 c.3601A>G - r.(?) p.(Lys1201Glu) Unknown g.179644855T>C - NM_003319.4:3463A>G (K1155E) - TTN_000479 - PubMed: Greenman 2007 - Germline - - - 0 - DNA SEQ - - cancer - - - - - - - - 0 - - 48 Johan den Dunnen
?/. 22 c.3605T>C - r.(?) p.(V1156A) Unknown g.179644851A>G - NM_003319.4:3467T>C (V1156A) - TTN_000429 - PubMed: Greenman 2007 - Germline - - - 0 - DNA SEQ - - cancer - - - - - - - - 0 - - 2 Johan den Dunnen
?/. 22 c.3605T>C - r.(?) p.(Val1202Ala) Unknown g.179644851A>G - NM_003319:c.T3467C - TTN_000429 - 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
?/. 22 c.3605T>C - r.(?) p.(Val1202Ala) Unknown g.179644851A>G - NM_003319:c.T3467C - TTN_000429 - 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
?/. 22 c.3695A>T - r.(?) p.(Asp1232Val) Parent #1 g.179644761T>A - NM_003319:c.A3557T - TTN_000953 - 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
-/. 23 c.3759A>G - r.(?) p.(=) Unknown g.179644160T>C - NM_003319.4:3621A>G (R1207R) - TTN_000441 - PubMed: Greenman 2007 - Germline - - - 0 - DNA SEQ - - cancer - - - - - - - - 0 - - 29 Johan den Dunnen
-/. 23 c.3884C>T - r.(?) p.(Ser1295Leu) Unknown g.179644035G>A - NM_003319.4:3746C>T (S1249L) - TTN_000390 - PubMed: Greenman 2007 - Germline - - - 0 - DNA SEQ - - cancer - - - - - - - - 0 - - 137 Johan den Dunnen
?/. 24 c.3993C>T - r.(?) p.(=) Unknown g.179643816G>A - NM_003319.4:3855C>T (I1285I) - TTN_000367 - PubMed: Greenman 2007 - Germline - - - 0 - DNA SEQ - - cancer - - - - - - - - 0 - - 1 Johan den Dunnen
?/. 24 c.4034G>A - r.(?) p.(Gly1345Asp) Unknown g.179643775C>T - NM_003319.4:3896G>A (G1299D) - TTN_000178 - PubMed: Greenman 2007 - Germline - - - 0 - DNA SEQ - - cancer - - - - - - - - 0 - - 1 Johan den Dunnen
?/. 24 c.4039G>A - r.(?) p.(Ala1347Thr) Parent #1 g.179643770C>T - NM_003319.4:3901G>A (A1301T) - TTN_000124 - PubMed: Greenman 2007 - Somatic - - - 0 - DNA SEQ - - cancer - - - - - - - - 0 - - 1 Johan den Dunnen
?/. 24 c.4048C>T - r.(?) p.(Arg1350Cys) Unknown g.179643761G>A - NM_003319:c.C3910T - TTN_000872 - 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
?/. 24 c.4049G>A - r.(?) p.(Arg1350His) Unknown g.179643760C>T - NM_003319.4:3911G>A (R1304H) - TTN_000274 - PubMed: Greenman 2007 - Somatic - - - 0 - DNA SEQ - - cancer - - - - - - - - 0 - - 1 Johan den Dunnen
?/. 24 c.4057G>C - r.(?) p.(Val1353Leu) Unknown g.179643752C>G - NM_003319.4:3919G>C (V1307L) - TTN_000191 - PubMed: Greenman 2007 - Germline - - - 0 - DNA SEQ - - cancer - - - - - - - - 0 - - 1 Johan den Dunnen
?/. 24 c.4177A>G - r.(?) p.(Ile1393Val) Unknown g.179643632T>C - NM_003319.4:4039A>G (I1347V) - TTN_000350 - PubMed: Greenman 2007 - Germline - - - 0 - DNA SEQ - - cancer - - - - - - - - 0 - - 1 Johan den Dunnen
-?/. 24 c.4199G>C - r.(?) p.(Ser1400Thr) Parent #1 g.179643610C>G - - - TTN_000609 carries also PKP2 c.2524C>T (Val842Ile)-35 PubMed: van Spaendonck-Zwarts 2014 - Unknown ? - - 0 - DNA SEQ-NG-I - - PPCM - PubMed: van Spaendonck-Zwarts 2014 2-generation family, 4 affecteds F - South Africa - - 0 - - 4 Johan den Dunnen
?/. 25 c.4222C>T - r.(?) p.(Arg1408Cys) Parent #1 g.179642689G>A - - - TTN_000603 - PubMed: van Spaendonck-Zwarts 2014 - Unknown ? - - 0 - DNA SEQ-NG-I - - PPCM - PubMed: van Spaendonck-Zwarts 2014 3-generation family, 2 affecteds F - Germany - - 0 - - 2 Johan den Dunnen
?/. 25 c.4246C>T - r.(?) p.(Arg1416Cys) Unknown g.179642665G>A - NM_003319.4:4108C>T (R1370C) - TTN_000351 - PubMed: Greenman 2007 - Germline - - - 0 - DNA SEQ - - cancer - - - - - - - - 0 - - 1 Johan den Dunnen
?/. 25 c.4289C>A - r.(?) p.(Ala1430Glu) Unknown g.179642622G>T - NM_003319:c.C4151A - TTN_000871 - 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
-?/. 25 c.4322G>C - r.(?) p.(Arg1441Pro) Unknown g.179642589C>G - NM_003319.4:4184G>C (R1395P) - TTN_000473 - PubMed: Greenman 2007 - Germline - - - 0 - DNA SEQ - - cancer - - - - - - - - 0 - - 4 Johan den Dunnen
?/. 25 c.4347A>G - r.(?) p.(=) Unknown g.179642564T>C - NM_003319.4:4209A>G (S1403S) - TTN_000368 - PubMed: Greenman 2007 - Germline - - - 0 - DNA SEQ - - cancer - - - - - - - - 0 - - 1 Johan den Dunnen
?/. 25 c.4359A>T - r.(?) p.(Arg1453Ser) Unknown g.179642552T>A - NM_003319:c.A4221T - TTN_000870 - 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
?/. 25 c.4396T>C - r.(?) p.(Phe1466Leu) Unknown g.179642515A>G - NM_003319:c.T4258C - TTN_000892 - 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
?/. 25 c.4396T>C - r.(?) p.(Phe1466Leu) Unknown g.179642515A>G - NM_003319:c.T4258C - TTN_000892 - 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
?/. 26 c.4532G>A - r.(?) p.(Gly1511Asp) Unknown g.179642260C>T - NM_003319:c.G4394A - TTN_000952 - 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
-?/. 26 c.4630A>G - r.(?) p.(Ile1544Val) Unknown g.179642162T>C - NM_003319.4:4492A>G (I1498V) - TTN_000450 - PubMed: Greenman 2007 - Germline - - - 0 - DNA SEQ - - cancer - - - - - - - - 0 - - 3 Johan den Dunnen
-/. 27 c.4715G>A - r.(?) p.(Arg1572Gln) Unknown g.179641975C>T - NM_003319.4:4577G>A (R1526Q) - TTN_000432 - PubMed: Greenman 2007 - Germline - - - 0 - DNA SEQ - - cancer - - - - - - - - 0 - - 20 Johan den Dunnen
+?/. 27 c.4724_4728del - r.(?) p.(Met1575Serfs*6) Parent #1 g.179641962_179641966del - 4724_4728delTGAAA - TTN_000781 - PubMed: Roberts 2015, Journal: Roberts 2015 - Germline - 1/374 cases DCM - 0 - DNA SEQ - - CMD - PubMed: Roberts 2015, Journal: Roberts 2015 374 individuals UK prospective DCM cohort - - United Kingdom (Great Britain) European - 0 - - 1 Johan den Dunnen
?/. 28 c.4972A>G - r.(?) p.(Arg1658Gly) Parent #1 g.179641619T>C - NM_003319.4:4834A>G (R1612G) - TTN_000272 - PubMed: Greenman 2007 - Germline - - - 0 - DNA SEQ - - cancer - - - - - - - - 0 - - 1 Johan den Dunnen
?/. 28 c.4991G>A - r.(?) p.(Arg1664Gln) Unknown g.179641600C>T - NM_003319.4:4853G>A (R1618Q) - TTN_000200 - PubMed: Greenman 2007 - Somatic - - - 0 - DNA SEQ - - cancer - - - - - - - - 0 - - 1 Johan den Dunnen
?/. 28 c.5075G>A - r.(?) p.(Gly1692Asp) Unknown g.179641516C>T - NM_003319.4:4937G>A (G1646D) - TTN_000226 - PubMed: Greenman 2007 - Somatic - - - 0 - DNA SEQ - - cancer - - - - - - - - 0 - - 1 Johan den Dunnen
?/. 28 c.5231C>T - r.(?) p.(Pro1744Leu) Unknown g.179641360G>A - NM_003319.4:5093C>T (P1698L) - TTN_000423 - PubMed: Greenman 2007 - Germline - - - 0 - DNA SEQ - - cancer - - - - - - - - 0 - - 2 Johan den Dunnen
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