All transcript 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.

1328 entries on 14 pages. Showing entries 1 - 100.
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Effect     

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     
-?/. 18 c.(2927_2928)G>A - r.(=) p.(Trp976Arg) g.(179647705_179647706)C>T - - - TTN_000000 - PubMed: Herman 2012 - Germline - - - 0 - Johan den Dunnen
-/. 43i c.10115-1712AC[(16_18)] - r.(?) p.(=) g.179625611GT([16_18)] - 10115AC(16_18) - TTN_000525 sequence comparison - - Germline - - - 0 - Johan den Dunnen
-/. 61i c.17740+64A[(10_11)] - r.(=) p.(=) g.179595588T[(10_11)] - 17740+64A(10_11) - TTN_000016 sequence comparison - - Germline - - - 0 - Johan den Dunnen
-/. 93i c.26762-40TTTTG[(5_9)] - r.(=) p.(=) g.delCAAAA[(5_9)] - - - TTN_000017 sequence comparison - - Germline - - - 0 - Johan den Dunnen
-/. 111i c.30598+153A[(11_12)] - r.(=) p.(=) g.179566102T[(11_12)] - - - TTN_000018 sequence comparison - - Germline - - - 0 - Johan den Dunnen
-/. 128i c.32312-540A[(22_25)] - r.(=) p.(=) g.179550865T[(22_25)] - 32354-540A(22_25) - TTN_000526 sequence comparison - - Germline - - - 0 - Johan den Dunnen
-/. 20i c.3380+283AC[(12_13)] - r.(=) p.(=) g.179646656GT[(12_13)] - - - TTN_000013 sequence comparison - - Germline - - - 0 - Johan den Dunnen
-/. 147i c.34292-74AT[(13_16)] - r.(=) p.(=) g.179542088TA[(13_16)] - 34333+260AT(13_16) - TTN_000527 sequence comparison - - Germline - - - 0 - Johan den Dunnen
-/. 37i c.8902+14TA[(8_9)] - r.(=) p.(=) g.179634392TA[(8_9)] - - - TTN_000014 sequence comparison - - Germline - - - 0 - Johan den Dunnen
?/. ? c.? - r.? p.? g.? - - - TTN_000000 - - - Unknown - - - 0 - Johan den Dunnen
?/. 2i c.91+5G>A - r.(spl?) p.(?) g.179669274C>T - IVS2+5G>A - TTN_000120 - PubMed: Greenman 2007 - Germline - - - 0 - Johan den Dunnen
+/. 3 c.160G>A - r.(?) p.(Val54Met) 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 - Johan den Dunnen
+?/. 3 c.160G>A - - p.Val54Met g.179667000C>T - - - TTN_000008 expression cloning, Y2H 0.40 reduced TCAP binding PubMed: Itoh-Satoh 2002 - In vitro (cloned) - - - 0 - Johan den Dunnen
-?/. 3 c.178G>T - r.(?) p.(Asp60Tyr) g.179666982C>A - - - TTN_000447 - PubMed: Greenman 2007 - Germline - - - 0 - Johan den Dunnen
?/? 3i c.296-14T>C - r.(?) p.(=) g.179665423A>G - - - TTN_000632 - PubMed: Vrijenhoek 2015, Journal: Vrijenhoek 2015 - Unknown ? - - 0 - Terry Vrijenhoek
+?/. 4 c.325C>T - r.(?) p.(Arg109*) g.179665380G>A - - - TTN_000716 - PubMed: Roberts 2015, Journal: Roberts 2015 - Germline - 1/667 controls - 0 - Johan den Dunnen
?/. 4 c.343G>A - r.(?) p.(Val115Met) g.179665362C>T - NM_003319.4:343G>A (V115M) - TTN_000134 - PubMed: Greenman 2007 - Somatic - - - 0 - Johan den Dunnen
?/. 4 c.426C>T - r.(?) p.(=) g.179665279G>A - NM_003319.4:426C>T (A142A) - TTN_000232 - PubMed: Greenman 2007 - Germline - - - 0 - Johan den Dunnen
?/. 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 - 0 - Johan den Dunnen
?/. 6 c.765_776del - r.(?) p.(Arg256_Pro259del) g.179664352_179664363del - NM_003319.4:765_776delCAGGATTCCTCC (R256_K260K) - TTN_000202 - PubMed: Greenman 2007 - Somatic - - - 0 - Johan den Dunnen
?/? 6 c.776C>T - r.(?) p.(Pro259Leu) g.179664352G>A - - - TTN_000631 - PubMed: Vrijenhoek 2015, Journal: Vrijenhoek 2015 - Unknown ? - - 0 - Terry Vrijenhoek
?/-? 6 c.835C>T - r.(?) p.(Arg279Trp) g.179664293G>A - - - TTN_000594 - PubMed: van Spaendonck-Zwarts 2014 - Germline yes - - 0 - Claire Chauveau
-/. 7 c.982C>T - r.(?) p.(Arg328Cys) g.179659912G>A - - - TTN_000029 in cases and controls PubMed: Itoh-Satoh 2002 - Germline - - - 0 - Johan den Dunnen
-/. 7 c.982C>T - r.(?) p.(Arg328Cys) g.179659912G>A - - - TTN_000029 - PubMed: Greenman 2007 - Germline - - - 0 - Johan den Dunnen
?/. 7 c.1079G>C - r.(?) p.(Arg360Thr) g.179659815C>G - NM_003319.4:1079G>C (R360T) - TTN_000248 - PubMed: Greenman 2007 - Germline - - - 0 - Johan den Dunnen
?/. 7 c.1137A>G - r.(?) p.(=) g.179659757T>C - NM_003319.4:1137A>G (R379R) - TTN_000230 - PubMed: Greenman 2007 - Germline - - - 0 - Johan den Dunnen
?/. 7 c.1221G>A - r.(?) p.(Glu407=) g.179659673C>T - NM_003319.4:1221G>A (E407E) - TTN_000401 - PubMed: Greenman 2007 - Germline - - - 0 - Johan den Dunnen
+?/. 7i c.1245+3A>G - r.spl? p.? g.179659646T>C - - - TTN_000715 - PubMed: Roberts 2015, Journal: Roberts 2015 - Germline - 1/1623 individuals - 0 - Johan den Dunnen
-?/. 7i c.1246-49C>G - r.(?) p.(=) g.179659327G>C - 179659327G>C - TTN_000584 present in controls PubMed: Pfeffer 2012 - Germline yes - - 0 - Claire Chauveau
?/. 7i c.1246-3delT - r.(spl?) p.(=) g.179659281delA - chr2:g.179659281delA - TTN_000052 - PubMed: Herman 2012 - Germline - - - 0 - Johan den Dunnen
?/. 8i c.1398+4C>T - r.(spl?) p.(?) g.179659122G>A - - - TTN_000569 - PubMed: Lopes 2013 - Unknown - - - 0 - Claire Chauveau
?/. 8i c.1398+4C>T - r.spl? p.? g.179659122G>A - NM_133437:c.C1398+4T - TTN_000569 - PubMed: Lopes 2013, Journal: Lopes 2013 - Germline - 1/223 cases HCM - 0 - Johan den Dunnen
-/. 9 c.1492G>A - r.(?) p.(Val498Ile) g.179658175C>T - - - TTN_000509 - PubMed: Greenman 2007 - Germline - - - 0 - Johan den Dunnen
?/. 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 - 0 - Johan den Dunnen
+/. 14 c.2219G>T - r.(?) p.(Arg740Leu) g.179650726C>A - G>T Arg740Leu - TTN_000001 not in 520 normal chromosomes; ex14 Z-repeat 7 PubMed: Satoh 1999, OMIM:var0001 - Germline - - - 0 - Johan den Dunnen
+/. 14 c.2219G>T - r.(?) p.Arg740Leu g.179650726C>A - G>T Arg740Leu - TTN_000001 expression cloning, YTH reduced alpha-actinin binding PubMed: Satoh 1999 - In vitro (cloned) - - - 0 - Johan den Dunnen
?/. 14 c.2226C>A - r.(?) p.(=) g.179650719G>T - (S696S) - TTN_000329 - PubMed: Greenman 2007 - Germline - - - 0 - Johan den Dunnen
+/. 14 c.2228C>T - r.(?) p.(Ala743Val) g.179650717G>A - G>C Ala743Val - TTN_000007 not in 520 control chromosomes PubMed: Itoh-Satoh 2002, OMIM:var0007 - Germline - - - 0 - Johan den Dunnen
+/. 14 c.2228C>T - r.(?) p.(Ala743Val) g.179650717G>A - G>C Ala743Val - TTN_000007 not in 520 control chromosomes PubMed: Itoh-Satoh 2002, OMIM:var0007 - Germline - - - 0 - Johan den Dunnen
+/. 14 c.2228C>T - r.(?) p.Ala743Val g.179650717G>A - - - TTN_000007 expression cloning, YTH 0.40 reduced alpha-actinin binding PubMed: Itoh-Satoh 2002 - In vitro (cloned) - - - 0 - Johan den Dunnen
-/. 14 c.2244G>A - r.(?) p.(=) g.179650701C>T - NM_003319.4:2106G>A (E702E) - TTN_000496 - PubMed: Greenman 2007 - Germline - - - 0 - Johan den Dunnen
-?/. 14 c.2244G>A - r.(?) p.(Glu748=) g.179650701C>T - - - TTN_000496 - PubMed: Pfeffer 2012 rs6715406 Germline yes - - 0 - Johan den Dunnen
?/. 15 c.2396C>T - r.(?) p.(Thr799Met) g.179650444G>A - NM_003319.4:2258C>T (T753M) - TTN_000305 - PubMed: Greenman 2007 - Somatic - - - 0 - Johan den Dunnen
-/. 15 c.2432C>T - r.(?) p.(Thr811Ile) g.179650408G>A - NM_003319.4:2294C>T (T765I) - TTN_000467 - PubMed: Greenman 2007 - Germline - - - 0 - Johan den Dunnen
-?/. 15 c.2432C>T - r.(?) p.(Thr811Ile) g.179650408G>A - - - TTN_000467 - PubMed: Pfeffer 2012 rs35813871 Germline yes - - 0 - Johan den Dunnen
+?/. 16 c.2494G>T - r.(?) p.(Ala832Ser) g.179649078C>A - - - TTN_000714 - PubMed: Roberts 2015, Journal: Roberts 2015 - Germline - 1/1980 individuals - 0 - Johan den Dunnen
?/. 16 c.2765G>A - r.(?) p.(Arg922His) g.179648807C>T - NM_003319.4:2627G>A (R876H) - TTN_000363 - PubMed: Greenman 2007 - Germline - - - 0 - Johan den Dunnen
?/. 17 c.2781A>C - r.(?) p.(=) g.179648507T>G - NM_003319.4:2643A>C (T881T) - TTN_000366 - PubMed: Greenman 2007 - Germline - - - 0 - Johan den Dunnen
?/. 17 c.2811A>C - r.(?) p.(Glu937Asp) g.179648477T>G - NM_003319.4:2673A>C (E891D) - TTN_000296 - PubMed: Greenman 2007 - Somatic - - - 0 - Johan den Dunnen
+?/. 17 c.2841G>T - r.(=) p.(=) g.179648447C>A - - - TTN_000713 - PubMed: Roberts 2015, Journal: Roberts 2015 - Germline - 1/1980 individuals - 0 - Johan den Dunnen
+/. 18 c.2926T>C - r.(?) p.(Trp976Arg) g.179647707A>G - 2920T>C - TTN_000003 - PubMed: Gerull 2002, OMIM:var0003 - Germline - - - 0 - Johan den Dunnen
?/. 18 c.2949C>T - r.(?) p.(=) g.179647684G>A - NM_003319.4:2811C>T (I937I) - TTN_000170 - PubMed: Greenman 2007 - Germline - - - 0 - Johan den Dunnen
?/. 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 - 0 - Johan den Dunnen
-/. 18 c.3087T>C - r.(?) p.(=) g.179647546A>G - NM_003319.4:2949T>C (Y983Y) - TTN_000435 - PubMed: Greenman 2007 - Germline - - - 0 - Johan den Dunnen
+?/. 18 c.3100G>A - r.(spl?) p.(Val1034Met?) g.179647533C>T - - - TTN_000054 - PubMed: Herman 2012 - Germline - - - 0 - Johan den Dunnen
+?/. 18 c.3100G>A - r.(spl?) p.(Val1034Met) g.179647533C>T - - - TTN_000054 - PubMed: Herman 2012 - Germline - - - 0 - Johan den Dunnen
+?/. 18 c.3100G>A - r.(?) p.(Val1034Met) g.179647533C>T - - - TTN_000054 - PubMed: Vasli 2012 - Germline - - - 0 - Claire Chauveau
+?/. 18 c.3100G>A - r.spl? p.(Val1034Met) g.179647533C>T - - - TTN_000054 - PubMed: Roberts 2015, Journal: Roberts 2015 - Germline - 1/155 cases DCM - 0 - Johan den Dunnen
+?/. 18 c.3100G>A - r.spl? p.(Val1034Met) g.179647533C>T - - - TTN_000054 - PubMed: Roberts 2015, Journal: Roberts 2015 - Germline - 1/155 cases DCM - 0 - Johan den Dunnen
+?/. 18 c.3100G>A - r.spl? p.(Val1034Met) g.179647533C>T - - - TTN_000054 - PubMed: Roberts 2015, Journal: Roberts 2015 - Germline - 1/155 cases DCM - 0 - Johan den Dunnen
+?/. 18 c.3100G>A - r.spl? p.(Val1034Met) g.179647533C>T - - - TTN_000054 - PubMed: Roberts 2015, Journal: Roberts 2015 - Germline - 1/308 controls - 0 - Johan den Dunnen
+?/. 18 c.3100G>A - r.spl? p.(Val1034Met) g.179647533C>T - - - TTN_000054 - PubMed: Roberts 2015, Journal: Roberts 2015 - Germline - 1/1623 individuals - 0 - Johan den Dunnen
?/. 18 c.3100G>A - r.(?) p.(Val1034Met) g.179647533C>T - NM_003319:c.G2962A - TTN_000054 - PubMed: Lopes 2013, Journal: Lopes 2013 - Germline - 1/223 cases HCM - 0 - Johan den Dunnen
?/. 18i c.3101-2A>T - r.spl p.? g.179647331T>A - chr2:g.179647331T>A - TTN_000049 - PubMed: Herman 2012 - Germline - - - 0 - Johan den Dunnen
?/. 20i c.3241G>A - r.(?) p.(Ala1081Thr) g.179647078C>T - NM_003319.4:3103G>A (A1035T) - TTN_000355 - PubMed: Greenman 2007 - Germline - - - 0 - Johan den Dunnen
?/. 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 - 0 - Johan den Dunnen
?/. 21 c.3409G>C - r.(?) p.(Gly1137Arg) g.179645962C>G - NM_003319.4:3271G>C (G1091R) - TTN_000172 - PubMed: Greenman 2007 - Germline - - - 0 - Johan den Dunnen
?/. 21 c.3409G>C - r.(?) p.(Gly1137Arg) g.179645962C>G - NM_003319:c.G3271C - TTN_000172 - PubMed: Lopes 2013, Journal: Lopes 2013 - Germline - 1/223 cases HCM - 0 - Johan den Dunnen
?/. 21 c.3409G>C - r.(?) p.(Gly1137Arg) g.179645962C>G - NM_003319:c.G3271C - TTN_000172 - PubMed: Lopes 2013, Journal: Lopes 2013 - Germline - 1/223 cases HCM - 0 - Johan den Dunnen
-/. 22 c.3601A>G - r.(?) p.(Lys1201Glu) g.179644855T>C - NM_003319.4:3463A>G (K1155E) - TTN_000479 - PubMed: Greenman 2007 - Germline - - - 0 - Johan den Dunnen
?/. 22 c.3605T>C - r.(?) p.(V1156A) g.179644851A>G - NM_003319.4:3467T>C (V1156A) - TTN_000429 - PubMed: Greenman 2007 - Germline - - - 0 - Johan den Dunnen
?/. 22 c.3605T>C - r.(?) p.(Val1202Ala) g.179644851A>G - NM_003319:c.T3467C - TTN_000429 - PubMed: Lopes 2013, Journal: Lopes 2013 - Germline - 1/223 cases HCM - 0 - Johan den Dunnen
?/. 22 c.3605T>C - r.(?) p.(Val1202Ala) g.179644851A>G - NM_003319:c.T3467C - TTN_000429 - PubMed: Lopes 2013, Journal: Lopes 2013 - Germline - 1/223 cases HCM - 0 - Johan den Dunnen
?/. 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 - 0 - Johan den Dunnen
-/. 23 c.3759A>G - r.(?) p.(=) g.179644160T>C - NM_003319.4:3621A>G (R1207R) - TTN_000441 - PubMed: Greenman 2007 - Germline - - - 0 - Johan den Dunnen
-/. 23 c.3884C>T - r.(?) p.(Ser1295Leu) g.179644035G>A - NM_003319.4:3746C>T (S1249L) - TTN_000390 - PubMed: Greenman 2007 - Germline - - - 0 - Johan den Dunnen
?/. 24 c.3993C>T - r.(?) p.(=) g.179643816G>A - NM_003319.4:3855C>T (I1285I) - TTN_000367 - PubMed: Greenman 2007 - Germline - - - 0 - Johan den Dunnen
?/. 24 c.4034G>A - r.(?) p.(Gly1345Asp) g.179643775C>T - NM_003319.4:3896G>A (G1299D) - TTN_000178 - PubMed: Greenman 2007 - Germline - - - 0 - Johan den Dunnen
?/. 24 c.4039G>A - r.(?) p.(Ala1347Thr) g.179643770C>T - NM_003319.4:3901G>A (A1301T) - TTN_000124 - PubMed: Greenman 2007 - Somatic - - - 0 - Johan den Dunnen
?/. 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 - 0 - Johan den Dunnen
?/. 24 c.4049G>A - r.(?) p.(Arg1350His) g.179643760C>T - NM_003319.4:3911G>A (R1304H) - TTN_000274 - PubMed: Greenman 2007 - Somatic - - - 0 - Johan den Dunnen
?/. 24 c.4057G>C - r.(?) p.(Val1353Leu) g.179643752C>G - NM_003319.4:3919G>C (V1307L) - TTN_000191 - PubMed: Greenman 2007 - Germline - - - 0 - Johan den Dunnen
?/. 24 c.4177A>G - r.(?) p.(Ile1393Val) g.179643632T>C - NM_003319.4:4039A>G (I1347V) - TTN_000350 - PubMed: Greenman 2007 - Germline - - - 0 - Johan den Dunnen
-?/. 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 ? - - 0 - Johan den Dunnen
?/. 25 c.4222C>T - r.(?) p.(Arg1408Cys) g.179642689G>A - - - TTN_000603 - PubMed: van Spaendonck-Zwarts 2014 - Unknown ? - - 0 - Johan den Dunnen
?/. 25 c.4246C>T - r.(?) p.(Arg1416Cys) g.179642665G>A - NM_003319.4:4108C>T (R1370C) - TTN_000351 - PubMed: Greenman 2007 - Germline - - - 0 - Johan den Dunnen
?/. 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 - 0 - Johan den Dunnen
-?/. 25 c.4322G>C - r.(?) p.(Arg1441Pro) g.179642589C>G - NM_003319.4:4184G>C (R1395P) - TTN_000473 - PubMed: Greenman 2007 - Germline - - - 0 - Johan den Dunnen
?/. 25 c.4347A>G - r.(?) p.(=) g.179642564T>C - NM_003319.4:4209A>G (S1403S) - TTN_000368 - PubMed: Greenman 2007 - Germline - - - 0 - Johan den Dunnen
?/. 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 - 0 - Johan den Dunnen
?/. 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 - 0 - Johan den Dunnen
?/. 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 - 0 - Johan den Dunnen
?/. 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 - 0 - Johan den Dunnen
-?/. 26 c.4630A>G - r.(?) p.(Ile1544Val) g.179642162T>C - NM_003319.4:4492A>G (I1498V) - TTN_000450 - PubMed: Greenman 2007 - Germline - - - 0 - Johan den Dunnen
-/. 27 c.4715G>A - r.(?) p.(Arg1572Gln) g.179641975C>T - NM_003319.4:4577G>A (R1526Q) - TTN_000432 - PubMed: Greenman 2007 - Germline - - - 0 - Johan den Dunnen
+?/. 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 - 0 - Johan den Dunnen
?/. 28 c.4972A>G - r.(?) p.(Arg1658Gly) g.179641619T>C - NM_003319.4:4834A>G (R1612G) - TTN_000272 - PubMed: Greenman 2007 - Germline - - - 0 - Johan den Dunnen
?/. 28 c.4991G>A - r.(?) p.(Arg1664Gln) g.179641600C>T - NM_003319.4:4853G>A (R1618Q) - TTN_000200 - PubMed: Greenman 2007 - Somatic - - - 0 - Johan den Dunnen
?/. 28 c.5075G>A - r.(?) p.(Gly1692Asp) g.179641516C>T - NM_003319.4:4937G>A (G1646D) - TTN_000226 - PubMed: Greenman 2007 - Somatic - - - 0 - Johan den Dunnen
?/. 28 c.5231C>T - r.(?) p.(Pro1744Leu) g.179641360G>A - NM_003319.4:5093C>T (P1698L) - TTN_000423 - PubMed: Greenman 2007 - Germline - - - 0 - Johan den Dunnen
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