Unique variants in 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.

1638 entries on 17 pages. Showing entries 1 - 100.
Legend   « First ‹ Prev     1 2 3 4 5 6 7 8 9 10 11 ...     Next › Last »

Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

Class.     

RNA change     

Protein     

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     

Owner     
-?/. 1 18 c.(2927_2928)G>A - r.(=) p.(Trp976Arg) g.(179647705_179647706)C>T - - - TTN_000000 - PubMed: Herman 2012 - - Germline - - - - - -
-/. 1 43i c.10115-1712AC[(16_18)] - r.(?) p.(=) g.179625611GT([16_18)] - 10115AC(16_18) - TTN_000525 sequence comparison - - - Germline - - - - - -
-/. 1 61i c.17740+64A[(10_11)] - r.(=) p.(=) g.179595588T[(10_11)] - 17740+64A(10_11) - TTN_000016 sequence comparison - - - Germline - - - - - -
-/. 1 93i c.26762-40TTTTG[(5_9)] - r.(=) p.(=) g.delCAAAA[(5_9)] - - - TTN_000017 sequence comparison - - - Germline - - - - - -
-/. 1 111i c.30598+153A[(11_12)] - r.(=) p.(=) g.179566102T[(11_12)] - - - TTN_000018 sequence comparison - - - Germline - - - - - -
-/. 1 128i c.32312-540A[(22_25)] - r.(=) p.(=) g.179550865T[(22_25)] - 32354-540A(22_25) - TTN_000526 sequence comparison - - - Germline - - - - - -
-/. 1 20i c.3380+283AC[(12_13)] - r.(=) p.(=) g.179646656GT[(12_13)] - - - TTN_000013 sequence comparison - - - Germline - - - - - -
-/. 1 147i c.34292-74AT[(13_16)] - r.(=) p.(=) g.179542088TA[(13_16)] - 34333+260AT(13_16) - TTN_000527 sequence comparison - - - Germline - - - - - -
-/. 1 37i c.8902+14TA[(8_9)] - r.(=) p.(=) g.179634392TA[(8_9)] - - - TTN_000014 sequence comparison - - - Germline - - - - - -
?/. 1 ? c.? - r.? p.? g.? - - - TTN_000000 - - - - Unknown - - - - - -
./. 2 - c.33G>A - r.(=) p.(=) g.179669337C>T - TTN:c.33G>A (=) - TTN_003556 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - -
?/. 1 2i c.91+5G>A - r.(spl?) p.(?) g.179669274C>T g.178804547C>T IVS2+5G>A - TTN_000120 - PubMed: Greenman 2007 - - Germline - - - - - -
+?/., +/. 2 3 c.160G>A - -, r.(?) p.Val54Met, p.(Val54Met) g.179667000C>T g.178802273C>T G>A Val54Met - TTN_000008 expression cloning, Y2H 0.40 reduced TCAP binding, 1 more item PubMed: Itoh-Satoh 2002, PubMed: Itoh-Satoh 2002, OMIM:var0008 - - In vitro (cloned), Germline - - - - - -
./., -?/. 4 3 c.178G>T - r.(?) p.(Asp60Tyr) g.179666982C>A g.178802255C>A TTN:c.178G>T (D60Y) - TTN_000447 VKGL data sharing initiative Nederland; correct HGVS to be checked PubMed: Greenman 2007 - - CLASSIFICATION record, Germline - - - - - VKGL-NL_Rotterdam
./. 2 - c.180T>C - r.(=) p.(=) g.179666980A>G - TTN:NM_001256850.1:c.180T>C, NM_001267550.1:c.180T>C, …, TTN:c.180T>C (=) - TTN_003553 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
./., ?/? 5 3i c.296-14T>C - r.(=), r.(?) p.(=) g.179665423A>G g.178800696A>G TTN:c.296-14T>C - TTN_000632 VKGL data sharing initiative Nederland; correct HGVS to be checked PubMed: Vrijenhoek 2015, Journal: Vrijenhoek 2015 - - CLASSIFICATION record, Unknown ? - - - - VKGL-NL_Rotterdam, Terry Vrijenhoek
+?/. 1 4 c.325C>T - r.(?) p.(Arg109*) g.179665380G>A g.178800653G>A - - TTN_000716 - PubMed: Roberts 2015, Journal: Roberts 2015 - - Germline - 1/667 controls - - - -
?/. 1 4 c.343G>A - r.(?) p.(Val115Met) g.179665362C>T g.178800635C>T NM_003319.4:343G>A (V115M) - TTN_000134 - PubMed: Greenman 2007 - - Somatic - - - - - -
?/., ./. 4 4 c.426C>T - r.(?), r.(=) p.(=) g.179665279G>A g.178800552G>A NM_003319.4:426C>T (A142A), TTN:c.426C>T (=) - TTN_000232 VKGL data sharing initiative Nederland; correct HGVS to be checked PubMed: Greenman 2007 - - Germline, CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
./. 3 - c.542G>A - r.(?) p.(Ser181Asn) g.179665163C>T - TTN:c.542G>A (S181N) - TTN_003548 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
./. 1 - c.593_595del - r.(?) p.(Glu198del) g.179664626_179664628del - TTN:c.593_595delAAG (E198del) - TTN_003545 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
./. 2 - c.617C>A - r.(?) p.(Thr206Lys) g.179664604G>T - TTN:NM_001256850.1:c.617C>A, NM_001267550.1:c.617C>A, …, TTN:c.617C>A (T206K) - TTN_003544 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
./. 2 - c.687T>C - r.(=) p.(=) g.179664441A>G - TTN:c.687T>C (=) - TTN_003539 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 6 c.755A>G - r.(?) p.(Lys252Arg) g.179664373T>C g.178799646T>C NM_003319:c.A755G - TTN_000782 - PubMed: Lopes 2013, Journal: Lopes 2013 - - Germline - 1/223 cases HCM - - - -
?/. 1 6 c.765_776del - r.(?) p.(Arg256_Pro259del) g.179664352_179664363del g.178799625_178799636del NM_003319.4:765_776delCAGGATTCCTCC (R256_K260K) - TTN_000202 - PubMed: Greenman 2007 - - Somatic - - - - - -
?/? 1 6 c.776C>T - r.(?) p.(Pro259Leu) g.179664352G>A g.178799625G>A - - TTN_000631 - PubMed: Vrijenhoek 2015, Journal: Vrijenhoek 2015 - - Unknown ? - - - - Terry Vrijenhoek
?/-?, ./. 3 6 c.835C>T - r.(?) p.(Arg279Trp) g.179664293G>A g.178799566G>A TTN:c.835C>T (R279W) - TTN_000594 VKGL data sharing initiative Nederland; correct HGVS to be checked PubMed: van Spaendonck-Zwarts 2014 - - Germline, CLASSIFICATION record yes - - - - Claire Chauveau, VKGL-NL_Rotterdam
./. 2 - c.970C>T - r.(?) p.(Pro324Ser) g.179659924G>A - TTN:c.970C>T (P324S) - TTN_003535 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 2 7 c.982C>T - r.(?) p.(Arg328Cys) g.179659912G>A g.178795185G>A - - TTN_000029 in cases and controls PubMed: Greenman 2007, PubMed: Itoh-Satoh 2002 - - Germline - - - - - -
./. 2 - c.1003G>A - r.(?) p.(Val335Met) g.179659891C>T - TTN:c.1003G>A (V335M) - TTN_003533 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
./. 2 - c.1050C>T - r.(=) p.(=) g.179659844G>A - TTN:c.1050C>T (=) - TTN_003532 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 7 c.1079G>C - r.(?) p.(Arg360Thr) g.179659815C>G g.178795088C>G NM_003319.4:1079G>C (R360T) - TTN_000248 - PubMed: Greenman 2007 - - Germline - - - - - -
./. 2 - c.1089G>A - r.(=) p.(=) g.179659805C>T - TTN:c.1089G>A (=) - TTN_003530 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - -
?/. 1 7 c.1137A>G - r.(?) p.(=) g.179659757T>C g.178795030T>C NM_003319.4:1137A>G (R379R) - TTN_000230 - PubMed: Greenman 2007 - - Germline - - - - - -
?/. 1 7 c.1221G>A - r.(?) p.(Glu407=) g.179659673C>T g.178794946C>T NM_003319.4:1221G>A (E407E) - TTN_000401 - PubMed: Greenman 2007 - - Germline - - - - - -
+?/. 1 7i c.1245+3A>G - r.spl? p.? g.179659646T>C g.178794919T>C - - TTN_000715 - PubMed: Roberts 2015, Journal: Roberts 2015 - - Germline - 1/1623 individuals - - - -
./. 2 - c.1245+20G>T - r.(=) p.(=) g.179659629C>A - TTN:c.1245+20G>T - TTN_003525 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 7i c.1246-49C>G - r.(?) p.(=) g.179659327G>C g.178794600G>C 179659327G>C - TTN_000584 present in controls PubMed: Pfeffer 2012 - - Germline yes - - - - Claire Chauveau
./. 4 - c.1246-16G>A - r.(=) p.(=) g.179659294C>T - TTN:NM_001256850.1:c.1246-16G>A, NM_001267550.1:c.1246-16G>A, …, TTN:c.1246-16G>A - TTN_003524 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 7i c.1246-3delT - r.(spl?) p.(=) g.179659281delA g.178794554delA chr2:g.179659281delA - TTN_000052 - PubMed: Herman 2012 - - Germline - - - - - -
./. 2 - c.1297G>A - r.(?) p.(Val433Ile) g.179659227C>T - TTN:c.1297G>A (V433I) - TTN_003522 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
./. 2 - c.1333G>A - r.(?) p.(Ala445Thr) g.179659191C>T - TTN:c.1333G>A (A445T) - TTN_003520 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 2 8i c.1398+4C>T - r.(spl?), r.spl? p.(?), p.? g.179659122G>A g.178794395G>A NM_133437:c.C1398+4T - TTN_000569 - PubMed: Lopes 2013, PubMed: Lopes 2013, Journal: Lopes 2013 - - Unknown, Germline - 1/223 cases HCM - - - Claire Chauveau
./. 2 - c.1398+8C>T - r.(=) p.(=) g.179659118G>A - TTN:c.1398+8C>T - TTN_003518 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
./. 3 - c.1398+16C>T - r.(=) p.(=) g.179659110G>A - TTN:c.1398+16C>T - TTN_003517 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
./., -/. 6 9 c.1492G>A - r.(?) p.(Val498Ile) g.179658175C>T g.178793448C>T TTN:NM_001256850.1:c.1492G>A, NM_001267550.1:c.1492G>A, …, TTN:c.1492G>A (V498I) - TTN_000509 VKGL data sharing initiative Nederland; correct HGVS to be checked PubMed: Greenman 2007 - - CLASSIFICATION record, Germline - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
./. 2 - c.1537-4G>A - r.spl? p.? g.179656928C>T - TTN:c.1537-4G>A - TTN_003510 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
./. 2 - c.1560A>G - r.(=) p.(=) g.179656901T>C - TTN:c.1560A>G (=) - TTN_003509 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - -
./. 2 - c.1920G>A - r.(=) p.(=) g.179654723C>T - TTN:c.1920G>A (=) - TTN_003501 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - -
./. 4 - c.1938+10G>C - r.(=) p.(=) g.179654695C>G - TTN:c.1938+10G>C - TTN_003500 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 14 c.2218C>A - r.(?) p.(Arg740Ser) g.179650727G>T g.178786000G>T NM_003319:c.C2080A - TTN_000955 - PubMed: Lopes 2013, Journal: Lopes 2013 - - Germline - 1/223 cases HCM - - - -
+/. 2 14 c.2219G>T - r.(?) p.Arg740Leu, p.(Arg740Leu) g.179650726C>A g.178785999C>A G>T Arg740Leu - TTN_000001 expression cloning, YTH reduced alpha-actinin binding, not in 520 normal chromosomes; ex14 Z-repeat 7 PubMed: Satoh 1999, PubMed: Satoh 1999, OMIM:var0001 - - In vitro (cloned), Germline - - - - - -
?/. 1 14 c.2226C>A - r.(?) p.(=) g.179650719G>T g.178785992G>T (S696S) - TTN_000329 - PubMed: Greenman 2007 - - Germline - - - - - -
+/. 3 14 c.2228C>T - r.(?) p.(Ala743Val), p.Ala743Val g.179650717G>A g.178785990G>A G>C Ala743Val - TTN_000007 not in 520 control chromosomes, expression cloning, YTH 0.40 reduced alpha-actinin binding PubMed: Itoh-Satoh 2002, OMIM:var0007, PubMed: Itoh-Satoh 2002 - - Germline, In vitro (cloned) - - - - - -
./., -/., -?/. 5 14 c.2244G>A - r.(=), r.(?) p.(=), p.(Glu748=) g.179650701C>T g.178785974C>T TTN:c.2244G>A (=), NM_003319.4:2106G>A (E702E) - TTN_000496 VKGL data sharing initiative Nederland; correct HGVS to be checked PubMed: Greenman 2007, PubMed: Pfeffer 2012 - rs6715406 CLASSIFICATION record, Germline yes - - - - VKGL-NL_Rotterdam
./. 2 - c.2270C>T - r.(?) p.(Pro757Leu) g.179650675G>A - TTN:c.2270C>T (P757L) - TTN_003492 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 15 c.2396C>T - r.(?) p.(Thr799Met) g.179650444G>A g.178785717G>A NM_003319.4:2258C>T (T753M) - TTN_000305 - PubMed: Greenman 2007 - - Somatic - - - - - -
-/., ./., -?/. 5 15 c.2432C>T - r.(?) p.(Thr811Ile) g.179650408G>A g.178785681G>A NM_003319.4:2294C>T (T765I), TTN:c.2432C>T (T811I) - TTN_000467 VKGL data sharing initiative Nederland; correct HGVS to be checked PubMed: Greenman 2007, PubMed: Pfeffer 2012 - rs35813871 Germline, CLASSIFICATION record yes - - - - VKGL-NL_Rotterdam
+?/. 1 16 c.2494G>T - r.(?) p.(Ala832Ser) g.179649078C>A g.178784351C>A - - TTN_000714 - PubMed: Roberts 2015, Journal: Roberts 2015 - - Germline - 1/1980 individuals - - - -
?/. 1 16 c.2765G>A - r.(?) p.(Arg922His) g.179648807C>T g.178784080C>T NM_003319.4:2627G>A (R876H) - TTN_000363 - PubMed: Greenman 2007 - - Germline - - - - - -
./., ?/. 3 17 c.2781A>C - r.(=), r.(?) p.(=) g.179648507T>G g.178783780T>G TTN:c.2781A>C (=), NM_003319.4:2643A>C (T881T) - TTN_000366 VKGL data sharing initiative Nederland; correct HGVS to be checked PubMed: Greenman 2007 - - CLASSIFICATION record, Germline - - - - - VKGL-NL_Rotterdam
?/. 1 17 c.2811A>C - r.(?) p.(Glu937Asp) g.179648477T>G g.178783750T>G NM_003319.4:2673A>C (E891D) - TTN_000296 - PubMed: Greenman 2007 - - Somatic - - - - - -
+?/. 1 17 c.2841G>T - r.(=) p.(=) g.179648447C>A g.178783720C>A - - TTN_000713 - PubMed: Roberts 2015, Journal: Roberts 2015 - - Germline - 1/1980 individuals - - - -
+/. 1 18 c.2926T>C - r.(?) p.(Trp976Arg) g.179647707A>G g.178782980A>G 2920T>C - TTN_000003 - PubMed: Gerull 2002, OMIM:var0003 - - Germline - - - - - -
./., ?/. 4 18 c.2949C>T - r.(=), r.(?) p.(=) g.179647684G>A g.178782957G>A TTN:c.2949C>T (=), NM_003319.4:2811C>T (I937I) - TTN_000170 VKGL data sharing initiative Nederland; correct HGVS to be checked PubMed: Greenman 2007 - - CLASSIFICATION record, Germline - - - - - VKGL-NL_Rotterdam
?/. 1 18 c.2967C>A - r.(?) p.(Phe989Leu) g.179647666G>T g.178782939G>T NM_003319:c.C2829A - TTN_000954 - PubMed: Lopes 2013, Journal: Lopes 2013 - - Germline - 1/223 cases HCM - - - -
./. 2 - c.3071T>G - r.(?) p.(Val1024Gly) g.179647562A>C - TTN:c.3071T>G (V1024G) - TTN_003478 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/., ./. 3 18 c.3087T>C - r.(?), r.(=) p.(=) g.179647546A>G g.178782819A>G NM_003319.4:2949T>C (Y983Y), TTN:c.3087T>C (=) - TTN_000435 VKGL data sharing initiative Nederland; correct HGVS to be checked PubMed: Greenman 2007 - - Germline, CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/., ?/. 9 18 c.3100G>A - r.(spl?), r.spl?, r.(?) p.(Val1034Met?), p.(Val1034Met) g.179647533C>T g.178782806C>T NM_003319:c.G2962A - TTN_000054 - PubMed: Herman 2012, PubMed: Roberts 2015, Journal: Roberts 2015, PubMed: Vasli 2012, 1 more item - - Germline - 1/155 cases DCM, 1/308 controls, 1/223 cases HCM, 1/1623 individuals - - - Claire Chauveau
?/. 1 18i c.3101-2A>T - r.spl p.? g.179647331T>A g.178782604T>A chr2:g.179647331T>A - TTN_000049 - PubMed: Herman 2012 - - Germline - - - - - -
./., ?/. 4 20i c.3241G>A - r.(?) p.(Ala1081Thr) g.179647078C>T g.178782351C>T TTN:c.3241G>A (A1081T), NM_003319.4:3103G>A (A1035T) - TTN_000355 VKGL data sharing initiative Nederland; correct HGVS to be checked PubMed: Greenman 2007 - - CLASSIFICATION record, Germline - - - - - VKGL-NL_Rotterdam
./. 2 - c.3380+9A>G - r.(=) p.(=) g.179646930T>C - TTN:c.3380+9A>G - TTN_003473 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 21 c.3388G>C - r.(?) p.(Val1130Leu) g.179645983C>G g.178781256C>G NM_003319:c.G3250C - TTN_000873 - PubMed: Lopes 2013, Journal: Lopes 2013 - - Germline - 1/223 cases HCM - - - -
?/. 3 21 c.3409G>C - r.(?) p.(Gly1137Arg) g.179645962C>G g.178781235C>G NM_003319:c.G3271C, NM_003319.4:3271G>C (G1091R) - TTN_000172 - PubMed: Lopes 2013, Journal: Lopes 2013, PubMed: Greenman 2007 - - Germline - 1/223 cases HCM - - - -
./., -/. 5 22 c.3601A>G - r.(?) p.(Lys1201Glu) g.179644855T>C g.178780128T>C TTN:c.3601A>G (K1201E), NM_003319.4:3463A>G (K1155E) - TTN_000479 VKGL data sharing initiative Nederland; correct HGVS to be checked PubMed: Greenman 2007 - - CLASSIFICATION record, Germline - - - - - VKGL-NL_Rotterdam
?/. 3 22 c.3605T>C - r.(?) p.(Val1202Ala), p.(V1156A) g.179644851A>G g.178780124A>G NM_003319:c.T3467C, NM_003319.4:3467T>C (V1156A) - TTN_000429 - PubMed: Lopes 2013, Journal: Lopes 2013, PubMed: Greenman 2007 - - Germline - 1/223 cases HCM - - - -
./. 2 - c.3668C>T - r.(?) p.(Ala1223Val) g.179644788G>A - TTN:c.3668C>T (A1223V) - TTN_003464 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 22 c.3695A>T - r.(?) p.(Asp1232Val) g.179644761T>A g.178780034T>A NM_003319:c.A3557T - TTN_000953 - PubMed: Lopes 2013, Journal: Lopes 2013 - - Germline - 1/223 cases HCM - - - -
-/., ./. 3 23 c.3759A>G - r.(?), r.(=) p.(=) g.179644160T>C g.178779433T>C NM_003319.4:3621A>G (R1207R), TTN:c.3759A>G (=) - TTN_000441 VKGL data sharing initiative Nederland; correct HGVS to be checked PubMed: Greenman 2007 - - Germline, CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
./., -/. 5 23 c.3884C>T - r.(?) p.(Ser1295Leu) g.179644035G>A g.178779308G>A TTN:c.3884C>T (S1295L), NM_003319.4:3746C>T (S1249L) - TTN_000390 VKGL data sharing initiative Nederland; correct HGVS to be checked PubMed: Greenman 2007 - - CLASSIFICATION record, Germline - - - - - VKGL-NL_Rotterdam
./., ?/. 3 24 c.3993C>T - r.(=), r.(?) p.(=) g.179643816G>A g.178779089G>A TTN:c.3993C>T (=), NM_003319.4:3855C>T (I1285I) - TTN_000367 VKGL data sharing initiative Nederland; correct HGVS to be checked PubMed: Greenman 2007 - - CLASSIFICATION record, Germline - - - - - VKGL-NL_Rotterdam
?/. 1 24 c.4034G>A - r.(?) p.(Gly1345Asp) g.179643775C>T g.178779048C>T NM_003319.4:3896G>A (G1299D) - TTN_000178 - PubMed: Greenman 2007 - - Germline - - - - - -
?/. 1 24 c.4039G>A - r.(?) p.(Ala1347Thr) g.179643770C>T g.178779043C>T NM_003319.4:3901G>A (A1301T) - TTN_000124 - PubMed: Greenman 2007 - - Somatic - - - - - -
?/. 1 24 c.4048C>T - r.(?) p.(Arg1350Cys) g.179643761G>A g.178779034G>A NM_003319:c.C3910T - TTN_000872 - PubMed: Lopes 2013, Journal: Lopes 2013 - - Germline - 1/223 cases HCM - - - -
?/. 1 24 c.4049G>A - r.(?) p.(Arg1350His) g.179643760C>T g.178779033C>T NM_003319.4:3911G>A (R1304H) - TTN_000274 - PubMed: Greenman 2007 - - Somatic - - - - - -
?/. 1 24 c.4057G>C - r.(?) p.(Val1353Leu) g.179643752C>G g.178779025C>G NM_003319.4:3919G>C (V1307L) - TTN_000191 - PubMed: Greenman 2007 - - Germline - - - - - -
./., ?/. 4 24 c.4177A>G - r.(?) p.(Ile1393Val) g.179643632T>C g.178778905T>C TTN:c.4177A>G (I1393V), NM_003319.4:4039A>G (I1347V) - TTN_000350 VKGL data sharing initiative Nederland; correct HGVS to be checked PubMed: Greenman 2007 - - CLASSIFICATION record, Germline - - - - - VKGL-NL_Rotterdam
-?/. 1 24 c.4199G>C - r.(?) p.(Ser1400Thr) g.179643610C>G g.178778883C>G - - TTN_000609 carries also PKP2 c.2524C>T (Val842Ile)-35 PubMed: van Spaendonck-Zwarts 2014 - - Unknown ? - - - - -
?/. 1 25 c.4222C>T - r.(?) p.(Arg1408Cys) g.179642689G>A g.178777962G>A - - TTN_000603 - PubMed: van Spaendonck-Zwarts 2014 - - Unknown ? - - - - -
./., ?/. 5 25 c.4246C>T - r.(?) p.(Arg1416Cys) g.179642665G>A g.178777938G>A TTN:NM_001256850.1:c.4246C>T, NM_001267550.1:c.4246C>T, …, TTN:c.4246C>T (R1416C), 1 more item - TTN_000351 VKGL data sharing initiative Nederland; correct HGVS to be checked PubMed: Greenman 2007 - - CLASSIFICATION record, Germline - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
./. 2 - c.4247G>A - r.(?) p.(Arg1416His) g.179642664C>T - TTN:NM_001256850.1:c.4247G>A, NM_001267550.1:c.4247G>A, …, TTN:c.4247G>A (R1416H) - TTN_003456 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 25 c.4289C>A - r.(?) p.(Ala1430Glu) g.179642622G>T g.178777895G>T NM_003319:c.C4151A - TTN_000871 - PubMed: Lopes 2013, Journal: Lopes 2013 - - Germline - 1/223 cases HCM - - - -
./., -?/. 6 25 c.4322G>C - r.(?) p.(Arg1441Pro) g.179642589C>G g.178777862C>G TTN:NM_001256850.1:c.4322G>C, NM_001267550.1:c.4322G>C, …, NM_003319.4:4184G>C (R1395P), 1 more item - TTN_000473 VKGL data sharing initiative Nederland; correct HGVS to be checked PubMed: Greenman 2007 - - CLASSIFICATION record, Germline - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
./., ?/. 3 25 c.4347A>G - r.(=), r.(?) p.(=) g.179642564T>C g.178777837T>C TTN:c.4347A>G (=), NM_003319.4:4209A>G (S1403S) - TTN_000368 VKGL data sharing initiative Nederland; correct HGVS to be checked PubMed: Greenman 2007 - - CLASSIFICATION record, Germline - - - - - VKGL-NL_Rotterdam
?/. 1 25 c.4359A>T - r.(?) p.(Arg1453Ser) g.179642552T>A g.178777825T>A NM_003319:c.A4221T - TTN_000870 - PubMed: Lopes 2013, Journal: Lopes 2013 - - Germline - 1/223 cases HCM - - - -
?/. 2 25 c.4396T>C - r.(?) p.(Phe1466Leu) g.179642515A>G g.178777788A>G NM_003319:c.T4258C - TTN_000892 - PubMed: Lopes 2013, Journal: Lopes 2013 - - Germline - 1/223 cases HCM - - - -
./. 4 - c.4480+6C>T - r.(=) p.(=) g.179642425G>A - TTN:c.4480+6C>T - TTN_003452 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 26 c.4532G>A - r.(?) p.(Gly1511Asp) g.179642260C>T g.178777533C>T NM_003319:c.G4394A - TTN_000952 - PubMed: Lopes 2013, Journal: Lopes 2013 - - Germline - 1/223 cases HCM - - - -
-?/., ./. 5 26 c.4630A>G - r.(?) p.(Ile1544Val) g.179642162T>C g.178777435T>C NM_003319.4:4492A>G (I1498V), TTN:c.4630A>G (I1544V) - TTN_000450 VKGL data sharing initiative Nederland; correct HGVS to be checked PubMed: Greenman 2007 - - Germline, CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
./. 2 - c.4645+8G>T - r.(=) p.(=) g.179642139C>A - TTN:c.4645+8G>T - TTN_003449 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
Legend   « First ‹ Prev     1 2 3 4 5 6 7 8 9 10 11 ...     Next › Last »