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.

1008 entries on 11 pages. Showing entries 1 - 100.
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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     

dbSNP ID     

Germline/Somatic/De novo     

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 - - - - - Johan den Dunnen
-/. 1 43i c.10115-1712AC[(16_18)] - r.(?) p.(=) g.179625611GT([16_18)] - 10115AC(16_18) - TTN_000525 sequence comparison - - Germline - - - - - Johan den Dunnen
-/. 1 61i c.17740+64A[(10_11)] - r.(=) p.(=) g.179595588T[(10_11)] - 17740+64A(10_11) - TTN_000016 sequence comparison - - Germline - - - - - Johan den Dunnen
-/. 1 93i c.26762-40TTTTG[(5_9)] - r.(=) p.(=) g.delCAAAA[(5_9)] - - - TTN_000017 sequence comparison - - Germline - - - - - Johan den Dunnen
-/. 1 111i c.30598+153A[(11_12)] - r.(=) p.(=) g.179566102T[(11_12)] - - - TTN_000018 sequence comparison - - Germline - - - - - Johan den Dunnen
-/. 1 128i c.32312-540A[(22_25)] - r.(=) p.(=) g.179550865T[(22_25)] - 32354-540A(22_25) - TTN_000526 sequence comparison - - Germline - - - - - Johan den Dunnen
-/. 1 20i c.3380+283AC[(12_13)] - r.(=) p.(=) g.179646656GT[(12_13)] - - - TTN_000013 sequence comparison - - Germline - - - - - Johan den Dunnen
-/. 1 147i c.34292-74AT[(13_16)] - r.(=) p.(=) g.179542088TA[(13_16)] - 34333+260AT(13_16) - TTN_000527 sequence comparison - - Germline - - - - - Johan den Dunnen
-/. 1 37i c.8902+14TA[(8_9)] - r.(=) p.(=) g.179634392TA[(8_9)] - - - TTN_000014 sequence comparison - - Germline - - - - - Johan den Dunnen
?/. 1 ? c.? - r.? p.? g.? - - - TTN_000000 - - - Unknown - - - - - Johan den Dunnen
?/. 1 2i c.91+5G>A - r.(spl?) p.(?) g.179669274C>T - IVS2+5G>A - TTN_000120 - PubMed: Greenman 2007 - Germline - - - - - Johan den Dunnen
+?/., +/. 2 3 c.160G>A - -, r.(?) p.Val54Met, p.(Val54Met) g.179667000C>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 - - - - - Johan den Dunnen
-?/. 1 3 c.178G>T - r.(?) p.(Asp60Tyr) g.179666982C>A - - - TTN_000447 - PubMed: Greenman 2007 - Germline - - - - - Johan den Dunnen
?/? 1 3i c.296-14T>C - r.(?) p.(=) g.179665423A>G - - - TTN_000632 - PubMed: Vrijenhoek 2015, Journal: Vrijenhoek 2015 - Unknown ? - - - - Terry Vrijenhoek
+?/. 1 4 c.325C>T - r.(?) p.(Arg109*) g.179665380G>A - - - TTN_000716 - PubMed: Roberts 2015, Journal: Roberts 2015 - Germline - 1/667 controls - - - Johan den Dunnen
?/. 1 4 c.343G>A - r.(?) p.(Val115Met) g.179665362C>T - NM_003319.4:343G>A (V115M) - TTN_000134 - PubMed: Greenman 2007 - Somatic - - - - - Johan den Dunnen
?/. 1 4 c.426C>T - r.(?) p.(=) g.179665279G>A - NM_003319.4:426C>T (A142A) - TTN_000232 - PubMed: Greenman 2007 - Germline - - - - - Johan den Dunnen
?/. 1 6 c.755A>G - r.(?) p.(Lys252Arg) g.179664373T>C - NM_003319:c.A755G - TTN_000782 - PubMed: Lopes 2013, Journal: Lopes 2013 - Germline - 1/223 cases HCM - - - Johan den Dunnen
?/. 1 6 c.765_776del - r.(?) p.(Arg256_Pro259del) g.179664352_179664363del - NM_003319.4:765_776delCAGGATTCCTCC (R256_K260K) - TTN_000202 - PubMed: Greenman 2007 - Somatic - - - - - Johan den Dunnen
?/? 1 6 c.776C>T - r.(?) p.(Pro259Leu) g.179664352G>A - - - TTN_000631 - PubMed: Vrijenhoek 2015, Journal: Vrijenhoek 2015 - Unknown ? - - - - Terry Vrijenhoek
?/-? 1 6 c.835C>T - r.(?) p.(Arg279Trp) g.179664293G>A - - - TTN_000594 - PubMed: van Spaendonck-Zwarts 2014 - Germline yes - - - - Claire Chauveau
-/. 2 7 c.982C>T - r.(?) p.(Arg328Cys) g.179659912G>A - - - TTN_000029 in cases and controls PubMed: Greenman 2007, PubMed: Itoh-Satoh 2002 - Germline - - - - - Johan den Dunnen
?/. 1 7 c.1079G>C - r.(?) p.(Arg360Thr) g.179659815C>G - NM_003319.4:1079G>C (R360T) - TTN_000248 - PubMed: Greenman 2007 - Germline - - - - - Johan den Dunnen
?/. 1 7 c.1137A>G - r.(?) p.(=) g.179659757T>C - NM_003319.4:1137A>G (R379R) - TTN_000230 - PubMed: Greenman 2007 - Germline - - - - - Johan den Dunnen
?/. 1 7 c.1221G>A - r.(?) p.(Glu407=) g.179659673C>T - NM_003319.4:1221G>A (E407E) - TTN_000401 - PubMed: Greenman 2007 - Germline - - - - - Johan den Dunnen
+?/. 1 7i c.1245+3A>G - r.spl? p.? g.179659646T>C - - - TTN_000715 - PubMed: Roberts 2015, Journal: Roberts 2015 - Germline - 1/1623 individuals - - - Johan den Dunnen
-?/. 1 7i c.1246-49C>G - r.(?) p.(=) g.179659327G>C - 179659327G>C - TTN_000584 present in controls PubMed: Pfeffer 2012 - Germline yes - - - - Claire Chauveau
?/. 1 7i c.1246-3delT - r.(spl?) p.(=) g.179659281delA - chr2:g.179659281delA - TTN_000052 - PubMed: Herman 2012 - Germline - - - - - Johan den Dunnen
?/. 2 8i c.1398+4C>T - r.(spl?), r.spl? p.(?), p.? g.179659122G>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, Johan den Dunnen
-/. 1 9 c.1492G>A - r.(?) p.(Val498Ile) g.179658175C>T - - - TTN_000509 - PubMed: Greenman 2007 - Germline - - - - - Johan den Dunnen
?/. 1 14 c.2218C>A - r.(?) p.(Arg740Ser) g.179650727G>T - NM_003319:c.C2080A - TTN_000955 - PubMed: Lopes 2013, Journal: Lopes 2013 - Germline - 1/223 cases HCM - - - Johan den Dunnen
+/. 2 14 c.2219G>T - r.(?) p.Arg740Leu, p.(Arg740Leu) g.179650726C>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 - - - - - Johan den Dunnen
?/. 1 14 c.2226C>A - r.(?) p.(=) g.179650719G>T - (S696S) - TTN_000329 - PubMed: Greenman 2007 - Germline - - - - - Johan den Dunnen
+/. 3 14 c.2228C>T - r.(?) p.(Ala743Val), p.Ala743Val g.179650717G>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) - - - - - Johan den Dunnen
-/., -?/. 2 14 c.2244G>A - r.(?) p.(=), p.(Glu748=) g.179650701C>T - NM_003319.4:2106G>A (E702E) - TTN_000496 - PubMed: Greenman 2007, PubMed: Pfeffer 2012 rs6715406 Germline yes - - - - Johan den Dunnen
?/. 1 15 c.2396C>T - r.(?) p.(Thr799Met) g.179650444G>A - NM_003319.4:2258C>T (T753M) - TTN_000305 - PubMed: Greenman 2007 - Somatic - - - - - Johan den Dunnen
-/., -?/. 2 15 c.2432C>T - r.(?) p.(Thr811Ile) g.179650408G>A - NM_003319.4:2294C>T (T765I) - TTN_000467 - PubMed: Greenman 2007, PubMed: Pfeffer 2012 rs35813871 Germline yes - - - - Johan den Dunnen
+?/. 1 16 c.2494G>T - r.(?) p.(Ala832Ser) g.179649078C>A - - - TTN_000714 - PubMed: Roberts 2015, Journal: Roberts 2015 - Germline - 1/1980 individuals - - - Johan den Dunnen
?/. 1 16 c.2765G>A - r.(?) p.(Arg922His) g.179648807C>T - NM_003319.4:2627G>A (R876H) - TTN_000363 - PubMed: Greenman 2007 - Germline - - - - - Johan den Dunnen
?/. 1 17 c.2781A>C - r.(?) p.(=) g.179648507T>G - NM_003319.4:2643A>C (T881T) - TTN_000366 - PubMed: Greenman 2007 - Germline - - - - - Johan den Dunnen
?/. 1 17 c.2811A>C - r.(?) p.(Glu937Asp) g.179648477T>G - NM_003319.4:2673A>C (E891D) - TTN_000296 - PubMed: Greenman 2007 - Somatic - - - - - Johan den Dunnen
+?/. 1 17 c.2841G>T - r.(=) p.(=) g.179648447C>A - - - TTN_000713 - PubMed: Roberts 2015, Journal: Roberts 2015 - Germline - 1/1980 individuals - - - Johan den Dunnen
+/. 1 18 c.2926T>C - r.(?) p.(Trp976Arg) g.179647707A>G - 2920T>C - TTN_000003 - PubMed: Gerull 2002, OMIM:var0003 - Germline - - - - - Johan den Dunnen
?/. 1 18 c.2949C>T - r.(?) p.(=) g.179647684G>A - NM_003319.4:2811C>T (I937I) - TTN_000170 - PubMed: Greenman 2007 - Germline - - - - - Johan den Dunnen
?/. 1 18 c.2967C>A - r.(?) p.(Phe989Leu) g.179647666G>T - NM_003319:c.C2829A - TTN_000954 - PubMed: Lopes 2013, Journal: Lopes 2013 - Germline - 1/223 cases HCM - - - Johan den Dunnen
-/. 1 18 c.3087T>C - r.(?) p.(=) g.179647546A>G - NM_003319.4:2949T>C (Y983Y) - TTN_000435 - PubMed: Greenman 2007 - Germline - - - - - Johan den Dunnen
+?/., ?/. 9 18 c.3100G>A - r.(spl?), r.spl?, r.(?) p.(Val1034Met?), p.(Val1034Met) g.179647533C>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 - - - Johan den Dunnen, Claire Chauveau
?/. 1 18i c.3101-2A>T - r.spl p.? g.179647331T>A - chr2:g.179647331T>A - TTN_000049 - PubMed: Herman 2012 - Germline - - - - - Johan den Dunnen
?/. 1 20i c.3241G>A - r.(?) p.(Ala1081Thr) g.179647078C>T - NM_003319.4:3103G>A (A1035T) - TTN_000355 - PubMed: Greenman 2007 - Germline - - - - - Johan den Dunnen
?/. 1 21 c.3388G>C - r.(?) p.(Val1130Leu) g.179645983C>G - NM_003319:c.G3250C - TTN_000873 - PubMed: Lopes 2013, Journal: Lopes 2013 - Germline - 1/223 cases HCM - - - Johan den Dunnen
?/. 3 21 c.3409G>C - r.(?) p.(Gly1137Arg) g.179645962C>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 - - - Johan den Dunnen
-/. 1 22 c.3601A>G - r.(?) p.(Lys1201Glu) g.179644855T>C - NM_003319.4:3463A>G (K1155E) - TTN_000479 - PubMed: Greenman 2007 - Germline - - - - - Johan den Dunnen
?/. 3 22 c.3605T>C - r.(?) p.(Val1202Ala), p.(V1156A) g.179644851A>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 - - - Johan den Dunnen
?/. 1 22 c.3695A>T - r.(?) p.(Asp1232Val) g.179644761T>A - NM_003319:c.A3557T - TTN_000953 - PubMed: Lopes 2013, Journal: Lopes 2013 - Germline - 1/223 cases HCM - - - Johan den Dunnen
-/. 1 23 c.3759A>G - r.(?) p.(=) g.179644160T>C - NM_003319.4:3621A>G (R1207R) - TTN_000441 - PubMed: Greenman 2007 - Germline - - - - - Johan den Dunnen
-/. 1 23 c.3884C>T - r.(?) p.(Ser1295Leu) g.179644035G>A - NM_003319.4:3746C>T (S1249L) - TTN_000390 - PubMed: Greenman 2007 - Germline - - - - - Johan den Dunnen
?/. 1 24 c.3993C>T - r.(?) p.(=) g.179643816G>A - NM_003319.4:3855C>T (I1285I) - TTN_000367 - PubMed: Greenman 2007 - Germline - - - - - Johan den Dunnen
?/. 1 24 c.4034G>A - r.(?) p.(Gly1345Asp) g.179643775C>T - NM_003319.4:3896G>A (G1299D) - TTN_000178 - PubMed: Greenman 2007 - Germline - - - - - Johan den Dunnen
?/. 1 24 c.4039G>A - r.(?) p.(Ala1347Thr) g.179643770C>T - NM_003319.4:3901G>A (A1301T) - TTN_000124 - PubMed: Greenman 2007 - Somatic - - - - - Johan den Dunnen
?/. 1 24 c.4048C>T - r.(?) p.(Arg1350Cys) g.179643761G>A - NM_003319:c.C3910T - TTN_000872 - PubMed: Lopes 2013, Journal: Lopes 2013 - Germline - 1/223 cases HCM - - - Johan den Dunnen
?/. 1 24 c.4049G>A - r.(?) p.(Arg1350His) g.179643760C>T - NM_003319.4:3911G>A (R1304H) - TTN_000274 - PubMed: Greenman 2007 - Somatic - - - - - Johan den Dunnen
?/. 1 24 c.4057G>C - r.(?) p.(Val1353Leu) g.179643752C>G - NM_003319.4:3919G>C (V1307L) - TTN_000191 - PubMed: Greenman 2007 - Germline - - - - - Johan den Dunnen
?/. 1 24 c.4177A>G - r.(?) p.(Ile1393Val) g.179643632T>C - NM_003319.4:4039A>G (I1347V) - TTN_000350 - PubMed: Greenman 2007 - Germline - - - - - Johan den Dunnen
-?/. 1 24 c.4199G>C - r.(?) p.(Ser1400Thr) g.179643610C>G - - - TTN_000609 carries also PKP2 c.2524C>T (Val842Ile)-35 PubMed: van Spaendonck-Zwarts 2014 - Unknown ? - - - - Johan den Dunnen
?/. 1 25 c.4222C>T - r.(?) p.(Arg1408Cys) g.179642689G>A - - - TTN_000603 - PubMed: van Spaendonck-Zwarts 2014 - Unknown ? - - - - Johan den Dunnen
?/. 1 25 c.4246C>T - r.(?) p.(Arg1416Cys) g.179642665G>A - NM_003319.4:4108C>T (R1370C) - TTN_000351 - PubMed: Greenman 2007 - Germline - - - - - Johan den Dunnen
?/. 1 25 c.4289C>A - r.(?) p.(Ala1430Glu) g.179642622G>T - NM_003319:c.C4151A - TTN_000871 - PubMed: Lopes 2013, Journal: Lopes 2013 - Germline - 1/223 cases HCM - - - Johan den Dunnen
-?/. 1 25 c.4322G>C - r.(?) p.(Arg1441Pro) g.179642589C>G - NM_003319.4:4184G>C (R1395P) - TTN_000473 - PubMed: Greenman 2007 - Germline - - - - - Johan den Dunnen
?/. 1 25 c.4347A>G - r.(?) p.(=) g.179642564T>C - NM_003319.4:4209A>G (S1403S) - TTN_000368 - PubMed: Greenman 2007 - Germline - - - - - Johan den Dunnen
?/. 1 25 c.4359A>T - r.(?) p.(Arg1453Ser) g.179642552T>A - NM_003319:c.A4221T - TTN_000870 - PubMed: Lopes 2013, Journal: Lopes 2013 - Germline - 1/223 cases HCM - - - Johan den Dunnen
?/. 2 25 c.4396T>C - r.(?) p.(Phe1466Leu) g.179642515A>G - NM_003319:c.T4258C - TTN_000892 - PubMed: Lopes 2013, Journal: Lopes 2013 - Germline - 1/223 cases HCM - - - Johan den Dunnen
?/. 1 26 c.4532G>A - r.(?) p.(Gly1511Asp) g.179642260C>T - NM_003319:c.G4394A - TTN_000952 - PubMed: Lopes 2013, Journal: Lopes 2013 - Germline - 1/223 cases HCM - - - Johan den Dunnen
-?/. 1 26 c.4630A>G - r.(?) p.(Ile1544Val) g.179642162T>C - NM_003319.4:4492A>G (I1498V) - TTN_000450 - PubMed: Greenman 2007 - Germline - - - - - Johan den Dunnen
-/. 1 27 c.4715G>A - r.(?) p.(Arg1572Gln) g.179641975C>T - NM_003319.4:4577G>A (R1526Q) - TTN_000432 - PubMed: Greenman 2007 - Germline - - - - - Johan den Dunnen
+?/. 1 27 c.4724_4728del - r.(?) p.(Met1575Serfs*6) g.179641962_179641966del - 4724_4728delTGAAA - TTN_000781 - PubMed: Roberts 2015, Journal: Roberts 2015 - Germline - 1/374 cases DCM - - - Johan den Dunnen
?/. 1 28 c.4972A>G - r.(?) p.(Arg1658Gly) g.179641619T>C - NM_003319.4:4834A>G (R1612G) - TTN_000272 - PubMed: Greenman 2007 - Germline - - - - - Johan den Dunnen
?/. 1 28 c.4991G>A - r.(?) p.(Arg1664Gln) g.179641600C>T - NM_003319.4:4853G>A (R1618Q) - TTN_000200 - PubMed: Greenman 2007 - Somatic - - - - - Johan den Dunnen
?/. 1 28 c.5075G>A - r.(?) p.(Gly1692Asp) g.179641516C>T - NM_003319.4:4937G>A (G1646D) - TTN_000226 - PubMed: Greenman 2007 - Somatic - - - - - Johan den Dunnen
?/. 1 28 c.5231C>T - r.(?) p.(Pro1744Leu) g.179641360G>A - NM_003319.4:5093C>T (P1698L) - TTN_000423 - PubMed: Greenman 2007 - Germline - - - - - Johan den Dunnen
?/. 1 28 c.5264A>G - r.(?) p.(Asn1755Ser) g.179641327T>C - NM_003319:c.A5126G - TTN_000951 - PubMed: Lopes 2013, Journal: Lopes 2013 - Germline - 1/223 cases HCM - - - Johan den Dunnen
?/. 1 28 c.5314A>G - r.(?) p.(Ser1772Gly) g.179641277T>C - NM_003319.4:5176A>G (S1726G) - TTN_000190 - PubMed: Greenman 2007 - Germline - - - - - Johan den Dunnen
?/. 1 28 c.5365T>G - r.(?) p.(Ser1789Ala) g.179641226A>C - NM_003319:c.T5227G - TTN_000891 - PubMed: Lopes 2013, Journal: Lopes 2013 - Germline - 1/223 cases HCM - - - Johan den Dunnen
?/. 1 - c.5582G>A - r.(?) p.(Arg1861His) g.179641009C>T - - - - - Sahlin et al - Germline ? - - - - Ellika Sahlin
?/. 1 28 c.5720C>T - r.(?) p.(Thr1907Ile) g.179640871G>A - NM_003319.4:5582C>T (T1861I) - TTN_000322 - PubMed: Greenman 2007 - Somatic - - - - - Johan den Dunnen
?/. 1 28 c.5993G>A - r.(?) p.(Arg1998His) g.179640598C>T - NM_003319.4:5855G>A (R1952H) - TTN_000245 - PubMed: Greenman 2007 - Germline - - - - - Johan den Dunnen
?/. 1 28 c.6227A>G - r.(?) p.(Glu2076Gly) g.179640364T>C - - - TTN_000606 - PubMed: van Spaendonck-Zwarts 2014 - Unknown ? - - - - Johan den Dunnen
+?/. 1 28 c.6248delG - r.(?) p.(Arg2083Lysfs*56) g.179640343delC - chr2:g.179640343delC - TTN_000098 - PubMed: Herman 2012 - Germline - - - - - Johan den Dunnen
?/. 1 28 c.6303C>A - r.(?) p.(=) g.179640288G>T - NM_003319.4:6165C>A (V2055V) - TTN_000145 - PubMed: Greenman 2007 - Somatic - - - - - Johan den Dunnen
?/. 1 28 c.6320C>T - r.(?) p.(Pro2107Leu) g.179640271G>A - NM_003319.4:6182C>T (P2061L) - TTN_000309 - PubMed: Greenman 2007 - Somatic - - - - - Johan den Dunnen
?/. 1 28 c.6353T>C - r.(?) p.(Ile2118Thr) g.179640238A>G - NM_003319.4:6215T>C (I2072T) - TTN_000339 - PubMed: Greenman 2007 - Germline - - - - - Johan den Dunnen
+?/. 1 28 c.6355G>T - r.(?) p.(Glu2119*) g.179640236C>A - - - TTN_000712 - PubMed: Roberts 2015, Journal: Roberts 2015 - Germline - 1/1980 individuals - - - Johan den Dunnen
?/. 1 28 c.6445A>G - r.(?) p.(Ile2149Val) g.179640146T>C - NM_003319:c.A6307G - TTN_000950 - PubMed: Lopes 2013, Journal: Lopes 2013 - Germline - 1/223 cases HCM - - - Johan den Dunnen
?/. 1 28 c.6490G>A - r.(?) p.(Ala2164Thr) g.179640101C>T - NM_003319.4:6352G>A (A2118T) - TTN_000324 - PubMed: Greenman 2007 - Germline - - - - - Johan den Dunnen
?/. 1 29 c.6718G>T - r.(?) p.(Asp2240Tyr) g.179639720C>A - NM_003319.4:6580G>T (D2194Y) - TTN_000318 - PubMed: Greenman 2007 - Germline - - - - - Johan den Dunnen
?/. 1 30 c.7023C>T - r.(?) p.(=) g.179638968G>A - NM_003319.4:6885C>T (D2295D) - TTN_000327 - PubMed: Greenman 2007 - Germline - - - - - Johan den Dunnen
?/? 1 31 c.7166T>G - r.(?) p.(Met2389Arg) g.179638729A>C - NM_003319.3:c.7028T>G (Met2343Arg) - TTN_000630 - PubMed: Vrijenhoek 2015, Journal: Vrijenhoek 2015 - Unknown ? - - - - Terry Vrijenhoek
-/. 1 31 c.7174G>A - r.(?) p.(Gly2392Ser) g.179638721C>T - NM_003319.4:7036G>A (G2346S) - TTN_000485 - PubMed: Greenman 2007 - Germline - - - - - Johan den Dunnen
?/. 3 31 c.7223A>G - r.(?) p.(Gln2408Arg) g.179638672T>C - NM_003319:c.A7085G - TTN_000890 - PubMed: Lopes 2013, Journal: Lopes 2013 - Germline - 1/223 cases HCM, 2/223 cases HCM - - - Johan den Dunnen
?/. 1 31 c.7294C>T - r.(?) p.(Leu2432Phe) g.179638601G>A - NM_003319.4:7156C>T (L2386F) - TTN_000174 - PubMed: Greenman 2007 - Somatic - - - - - Johan den Dunnen
?/. 1 32 c.7392T>C - r.(?) p.(=) g.179638391A>G - NM_003319.4:7254T>C (L2418L) - TTN_000411 - PubMed: Greenman 2007 - Germline - - - - - Johan den Dunnen
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