Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.178534053C>ACA349417259TTN,TTN-AS1c.94858G>T (p.Glu31620Ter)
c.75943G>T (p.Glu25315Ter)
c.75742G>T (p.Glu25248Ter)
c.75367G>T (p.Glu25123Ter)
c.102562G>T (p.Glu34188Ter)
c.97639G>T (p.Glu32547Ter)
n.446+10417C>A
n.220-1679C>A
c.101659G>T (p.Glu33887Ter)
c.75553G>T (p.Glu25185Ter)
c.75412G>T (p.Glu25138Ter)
c.101455G>T (p.Glu33819Ter)
c.96853G>T (p.Glu32285Ter)
c.96850G>T (p.Glu32284Ter)
c.93892G>T (p.Glu31298Ter)
c.75508G>T (p.Glu25170Ter)
c.97003G>T (p.Glu32335Ter)
c.97000G>T (p.Glu32334Ter)
c.96433G>T (p.Glu32145Ter)
c.93775G>T (p.Glu31259Ter)
c.93694G>T (p.Glu31232Ter)
c.75457G>T (p.Glu25153Ter)
c.65311G>T (p.Glu21771Ter)
2g.178534053C=CA1310518918TTN,TTN-AS1c.94858G= (p.Glu31620=)
c.75943G= (p.Glu25315=)
c.75742G= (p.Glu25248=)
c.75367G= (p.Glu25123=)
c.102562G= (p.Glu34188=)
c.97639G= (p.Glu32547=)
n.446+10417C=
n.220-1679C=
c.101659G= (p.Glu33887=)
c.75553G= (p.Glu25185=)
c.75412G= (p.Glu25138=)
c.101455G= (p.Glu33819=)
c.96853G= (p.Glu32285=)
c.96850G= (p.Glu32284=)
c.93892G= (p.Glu31298=)
c.75508G= (p.Glu25170=)
c.97003G= (p.Glu32335=)
c.97000G= (p.Glu32334=)
c.96433G= (p.Glu32145=)
c.93775G= (p.Glu31259=)
c.93694G= (p.Glu31232=)
c.75457G= (p.Glu25153=)
c.65311G= (p.Glu21771=)
2g.178534053C>GCA349417260TTN,TTN-AS1c.94858G>C (p.Glu31620Gln)
c.75943G>C (p.Glu25315Gln)
c.75742G>C (p.Glu25248Gln)
c.75367G>C (p.Glu25123Gln)
c.102562G>C (p.Glu34188Gln)
c.97639G>C (p.Glu32547Gln)
n.446+10417C>G
n.220-1679C>G
c.101659G>C (p.Glu33887Gln)
c.75553G>C (p.Glu25185Gln)
c.75412G>C (p.Glu25138Gln)
c.101455G>C (p.Glu33819Gln)
c.96853G>C (p.Glu32285Gln)
c.96850G>C (p.Glu32284Gln)
c.93892G>C (p.Glu31298Gln)
c.75508G>C (p.Glu25170Gln)
c.97003G>C (p.Glu32335Gln)
c.97000G>C (p.Glu32334Gln)
c.96433G>C (p.Glu32145Gln)
c.93775G>C (p.Glu31259Gln)
c.93694G>C (p.Glu31232Gln)
c.75457G>C (p.Glu25153Gln)
c.65311G>C (p.Glu21771Gln)
2g.178534053C>TCA1985734TTN,TTN-AS1c.94858G>A (p.Glu31620Lys)
c.75943G>A (p.Glu25315Lys)
c.75742G>A (p.Glu25248Lys)
c.75367G>A (p.Glu25123Lys)
c.102562G>A (p.Glu34188Lys)
c.97639G>A (p.Glu32547Lys)
n.446+10417C>T
n.220-1679C>T
c.101659G>A (p.Glu33887Lys)
c.75553G>A (p.Glu25185Lys)
c.75412G>A (p.Glu25138Lys)
c.101455G>A (p.Glu33819Lys)
c.96853G>A (p.Glu32285Lys)
c.96850G>A (p.Glu32284Lys)
c.93892G>A (p.Glu31298Lys)
c.75508G>A (p.Glu25170Lys)
c.97003G>A (p.Glu32335Lys)
c.97000G>A (p.Glu32334Lys)
c.96433G>A (p.Glu32145Lys)
c.93775G>A (p.Glu31259Lys)
c.93694G>A (p.Glu31232Lys)
c.75457G>A (p.Glu25153Lys)
c.65311G>A (p.Glu21771Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
2g.178534054G>ACA1985735TTN,TTN-AS1c.94857C>T (p.Tyr31619=)
c.75942C>T (p.Tyr25314=)
c.75741C>T (p.Tyr25247=)
c.75366C>T (p.Tyr25122=)
c.102561C>T (p.Tyr34187=)
c.97638C>T (p.Tyr32546=)
n.446+10418G>A
n.220-1678G>A
c.101658C>T (p.Tyr33886=)
c.75552C>T (p.Tyr25184=)
c.75411C>T (p.Tyr25137=)
c.101454C>T (p.Tyr33818=)
c.96852C>T (p.Tyr32284=)
c.96849C>T (p.Tyr32283=)
c.93891C>T (p.Tyr31297=)
c.75507C>T (p.Tyr25169=)
c.97002C>T (p.Tyr32334=)
c.96999C>T (p.Tyr32333=)
c.96432C>T (p.Tyr32144=)
c.93774C>T (p.Tyr31258=)
c.93693C>T (p.Tyr31231=)
c.75456C>T (p.Tyr25152=)
c.65310C>T (p.Tyr21770=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178534054G>CCA349417261TTN,TTN-AS1c.94857C>G (p.Tyr31619Ter)
c.75942C>G (p.Tyr25314Ter)
c.75741C>G (p.Tyr25247Ter)
c.75366C>G (p.Tyr25122Ter)
c.102561C>G (p.Tyr34187Ter)
c.97638C>G (p.Tyr32546Ter)
n.446+10418G>C
n.220-1678G>C
c.101658C>G (p.Tyr33886Ter)
c.75552C>G (p.Tyr25184Ter)
c.75411C>G (p.Tyr25137Ter)
c.101454C>G (p.Tyr33818Ter)
c.96852C>G (p.Tyr32284Ter)
c.96849C>G (p.Tyr32283Ter)
c.93891C>G (p.Tyr31297Ter)
c.75507C>G (p.Tyr25169Ter)
c.97002C>G (p.Tyr32334Ter)
c.96999C>G (p.Tyr32333Ter)
c.96432C>G (p.Tyr32144Ter)
c.93774C>G (p.Tyr31258Ter)
c.93693C>G (p.Tyr31231Ter)
c.75456C>G (p.Tyr25152Ter)
c.65310C>G (p.Tyr21770Ter)
2g.178534054G=CA1310518919TTN,TTN-AS1c.94857C= (p.Tyr31619=)
c.75942C= (p.Tyr25314=)
c.75741C= (p.Tyr25247=)
c.75366C= (p.Tyr25122=)
c.102561C= (p.Tyr34187=)
c.97638C= (p.Tyr32546=)
n.446+10418G=
n.220-1678G=
c.101658C= (p.Tyr33886=)
c.75552C= (p.Tyr25184=)
c.75411C= (p.Tyr25137=)
c.101454C= (p.Tyr33818=)
c.96852C= (p.Tyr32284=)
c.96849C= (p.Tyr32283=)
c.93891C= (p.Tyr31297=)
c.75507C= (p.Tyr25169=)
c.97002C= (p.Tyr32334=)
c.96999C= (p.Tyr32333=)
c.96432C= (p.Tyr32144=)
c.93774C= (p.Tyr31258=)
c.93693C= (p.Tyr31231=)
c.75456C= (p.Tyr25152=)
c.65310C= (p.Tyr21770=)
2g.178534054G>TCA349417262TTN,TTN-AS1c.94857C>A (p.Tyr31619Ter)
c.75942C>A (p.Tyr25314Ter)
c.75741C>A (p.Tyr25247Ter)
c.75366C>A (p.Tyr25122Ter)
c.102561C>A (p.Tyr34187Ter)
c.97638C>A (p.Tyr32546Ter)
n.446+10418G>T
n.220-1678G>T
c.101658C>A (p.Tyr33886Ter)
c.75552C>A (p.Tyr25184Ter)
c.75411C>A (p.Tyr25137Ter)
c.101454C>A (p.Tyr33818Ter)
c.96852C>A (p.Tyr32284Ter)
c.96849C>A (p.Tyr32283Ter)
c.93891C>A (p.Tyr31297Ter)
c.75507C>A (p.Tyr25169Ter)
c.97002C>A (p.Tyr32334Ter)
c.96999C>A (p.Tyr32333Ter)
c.96432C>A (p.Tyr32144Ter)
c.93774C>A (p.Tyr31258Ter)
c.93693C>A (p.Tyr31231Ter)
c.75456C>A (p.Tyr25152Ter)
c.65310C>A (p.Tyr21770Ter)
2g.178534055T>ACA349417265TTN,TTN-AS1c.94856A>T (p.Tyr31619Phe)
c.75941A>T (p.Tyr25314Phe)
c.75740A>T (p.Tyr25247Phe)
c.75365A>T (p.Tyr25122Phe)
c.102560A>T (p.Tyr34187Phe)
c.97637A>T (p.Tyr32546Phe)
n.446+10419T>A
n.220-1677T>A
c.101657A>T (p.Tyr33886Phe)
c.75551A>T (p.Tyr25184Phe)
c.75410A>T (p.Tyr25137Phe)
c.101453A>T (p.Tyr33818Phe)
c.96851A>T (p.Tyr32284Phe)
c.96848A>T (p.Tyr32283Phe)
c.93890A>T (p.Tyr31297Phe)
c.75506A>T (p.Tyr25169Phe)
c.97001A>T (p.Tyr32334Phe)
c.96998A>T (p.Tyr32333Phe)
c.96431A>T (p.Tyr32144Phe)
c.93773A>T (p.Tyr31258Phe)
c.93692A>T (p.Tyr31231Phe)
c.75455A>T (p.Tyr25152Phe)
c.65309A>T (p.Tyr21770Phe)
2g.178534055T>CCA349417263TTN,TTN-AS1c.94856A>G (p.Tyr31619Cys)
c.75941A>G (p.Tyr25314Cys)
c.75740A>G (p.Tyr25247Cys)
c.75365A>G (p.Tyr25122Cys)
c.102560A>G (p.Tyr34187Cys)
c.97637A>G (p.Tyr32546Cys)
n.446+10419T>C
n.220-1677T>C
c.101657A>G (p.Tyr33886Cys)
c.75551A>G (p.Tyr25184Cys)
c.75410A>G (p.Tyr25137Cys)
c.101453A>G (p.Tyr33818Cys)
c.96851A>G (p.Tyr32284Cys)
c.96848A>G (p.Tyr32283Cys)
c.93890A>G (p.Tyr31297Cys)
c.75506A>G (p.Tyr25169Cys)
c.97001A>G (p.Tyr32334Cys)
c.96998A>G (p.Tyr32333Cys)
c.96431A>G (p.Tyr32144Cys)
c.93773A>G (p.Tyr31258Cys)
c.93692A>G (p.Tyr31231Cys)
c.75455A>G (p.Tyr25152Cys)
c.65309A>G (p.Tyr21770Cys)
 dbSNP gnomAD v2 gnomAD v4
2g.178534055T>GCA349417264TTN,TTN-AS1c.94856A>C (p.Tyr31619Ser)
c.75941A>C (p.Tyr25314Ser)
c.75740A>C (p.Tyr25247Ser)
c.75365A>C (p.Tyr25122Ser)
c.102560A>C (p.Tyr34187Ser)
c.97637A>C (p.Tyr32546Ser)
n.446+10419T>G
n.220-1677T>G
c.101657A>C (p.Tyr33886Ser)
c.75551A>C (p.Tyr25184Ser)
c.75410A>C (p.Tyr25137Ser)
c.101453A>C (p.Tyr33818Ser)
c.96851A>C (p.Tyr32284Ser)
c.96848A>C (p.Tyr32283Ser)
c.93890A>C (p.Tyr31297Ser)
c.75506A>C (p.Tyr25169Ser)
c.97001A>C (p.Tyr32334Ser)
c.96998A>C (p.Tyr32333Ser)
c.96431A>C (p.Tyr32144Ser)
c.93773A>C (p.Tyr31258Ser)
c.93692A>C (p.Tyr31231Ser)
c.75455A>C (p.Tyr25152Ser)
c.65309A>C (p.Tyr21770Ser)
2g.178534055T=CA1310518920TTN,TTN-AS1c.94856A= (p.Tyr31619=)
c.75941A= (p.Tyr25314=)
c.75740A= (p.Tyr25247=)
c.75365A= (p.Tyr25122=)
c.102560A= (p.Tyr34187=)
c.97637A= (p.Tyr32546=)
n.446+10419T=
n.220-1677T=
c.101657A= (p.Tyr33886=)
c.75551A= (p.Tyr25184=)
c.75410A= (p.Tyr25137=)
c.101453A= (p.Tyr33818=)
c.96851A= (p.Tyr32284=)
c.96848A= (p.Tyr32283=)
c.93890A= (p.Tyr31297=)
c.75506A= (p.Tyr25169=)
c.97001A= (p.Tyr32334=)
c.96998A= (p.Tyr32333=)
c.96431A= (p.Tyr32144=)
c.93773A= (p.Tyr31258=)
c.93692A= (p.Tyr31231=)
c.75455A= (p.Tyr25152=)
c.65309A= (p.Tyr21770=)
2g.178534056A>CCA349417266TTN,TTN-AS1c.94855T>G (p.Tyr31619Asp)
c.75940T>G (p.Tyr25314Asp)
c.75739T>G (p.Tyr25247Asp)
c.75364T>G (p.Tyr25122Asp)
c.102559T>G (p.Tyr34187Asp)
c.97636T>G (p.Tyr32546Asp)
n.446+10420A>C
n.220-1676A>C
c.101656T>G (p.Tyr33886Asp)
c.75550T>G (p.Tyr25184Asp)
c.75409T>G (p.Tyr25137Asp)
c.101452T>G (p.Tyr33818Asp)
c.96850T>G (p.Tyr32284Asp)
c.96847T>G (p.Tyr32283Asp)
c.93889T>G (p.Tyr31297Asp)
c.75505T>G (p.Tyr25169Asp)
c.97000T>G (p.Tyr32334Asp)
c.96997T>G (p.Tyr32333Asp)
c.96430T>G (p.Tyr32144Asp)
c.93772T>G (p.Tyr31258Asp)
c.93691T>G (p.Tyr31231Asp)
c.75454T>G (p.Tyr25152Asp)
c.65308T>G (p.Tyr21770Asp)
2g.178534056A>GCA349417267TTN,TTN-AS1c.94855T>C (p.Tyr31619His)
c.75940T>C (p.Tyr25314His)
c.75739T>C (p.Tyr25247His)
c.75364T>C (p.Tyr25122His)
c.102559T>C (p.Tyr34187His)
c.97636T>C (p.Tyr32546His)
n.446+10420A>G
n.220-1676A>G
c.101656T>C (p.Tyr33886His)
c.75550T>C (p.Tyr25184His)
c.75409T>C (p.Tyr25137His)
c.101452T>C (p.Tyr33818His)
c.96850T>C (p.Tyr32284His)
c.96847T>C (p.Tyr32283His)
c.93889T>C (p.Tyr31297His)
c.75505T>C (p.Tyr25169His)
c.97000T>C (p.Tyr32334His)
c.96997T>C (p.Tyr32333His)
c.96430T>C (p.Tyr32144His)
c.93772T>C (p.Tyr31258His)
c.93691T>C (p.Tyr31231His)
c.75454T>C (p.Tyr25152His)
c.65308T>C (p.Tyr21770His)
2g.178534056A>TCA349417268TTN,TTN-AS1c.94855T>A (p.Tyr31619Asn)
c.75940T>A (p.Tyr25314Asn)
c.75739T>A (p.Tyr25247Asn)
c.75364T>A (p.Tyr25122Asn)
c.102559T>A (p.Tyr34187Asn)
c.97636T>A (p.Tyr32546Asn)
n.446+10420A>T
n.220-1676A>T
c.101656T>A (p.Tyr33886Asn)
c.75550T>A (p.Tyr25184Asn)
c.75409T>A (p.Tyr25137Asn)
c.101452T>A (p.Tyr33818Asn)
c.96850T>A (p.Tyr32284Asn)
c.96847T>A (p.Tyr32283Asn)
c.93889T>A (p.Tyr31297Asn)
c.75505T>A (p.Tyr25169Asn)
c.97000T>A (p.Tyr32334Asn)
c.96997T>A (p.Tyr32333Asn)
c.96430T>A (p.Tyr32144Asn)
c.93772T>A (p.Tyr31258Asn)
c.93691T>A (p.Tyr31231Asn)
c.75454T>A (p.Tyr25152Asn)
c.65308T>A (p.Tyr21770Asn)
2g.178534057G>ACA430237919TTN,TTN-AS1c.94854C>T (p.Thr31618=)
c.75939C>T (p.Thr25313=)
c.75738C>T (p.Thr25246=)
c.75363C>T (p.Thr25121=)
c.102558C>T (p.Thr34186=)
c.97635C>T (p.Thr32545=)
n.446+10421G>A
n.220-1675G>A
c.101655C>T (p.Thr33885=)
c.75549C>T (p.Thr25183=)
c.75408C>T (p.Thr25136=)
c.101451C>T (p.Thr33817=)
c.96849C>T (p.Thr32283=)
c.96846C>T (p.Thr32282=)
c.93888C>T (p.Thr31296=)
c.75504C>T (p.Thr25168=)
c.96999C>T (p.Thr32333=)
c.96996C>T (p.Thr32332=)
c.96429C>T (p.Thr32143=)
c.93771C>T (p.Thr31257=)
c.93690C>T (p.Thr31230=)
c.75453C>T (p.Thr25151=)
c.65307C>T (p.Thr21769=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.178534057G>CCA430237922TTN,TTN-AS1c.94854C>G (p.Thr31618=)
c.75939C>G (p.Thr25313=)
c.75738C>G (p.Thr25246=)
c.75363C>G (p.Thr25121=)
c.102558C>G (p.Thr34186=)
c.97635C>G (p.Thr32545=)
n.446+10421G>C
n.220-1675G>C
c.101655C>G (p.Thr33885=)
c.75549C>G (p.Thr25183=)
c.75408C>G (p.Thr25136=)
c.101451C>G (p.Thr33817=)
c.96849C>G (p.Thr32283=)
c.96846C>G (p.Thr32282=)
c.93888C>G (p.Thr31296=)
c.75504C>G (p.Thr25168=)
c.96999C>G (p.Thr32333=)
c.96996C>G (p.Thr32332=)
c.96429C>G (p.Thr32143=)
c.93771C>G (p.Thr31257=)
c.93690C>G (p.Thr31230=)
c.75453C>G (p.Thr25151=)
c.65307C>G (p.Thr21769=)
2g.178534057G=CA1310518921TTN,TTN-AS1c.94854C= (p.Thr31618=)
c.75939C= (p.Thr25313=)
c.75738C= (p.Thr25246=)
c.75363C= (p.Thr25121=)
c.102558C= (p.Thr34186=)
c.97635C= (p.Thr32545=)
n.446+10421G=
n.220-1675G=
c.101655C= (p.Thr33885=)
c.75549C= (p.Thr25183=)
c.75408C= (p.Thr25136=)
c.101451C= (p.Thr33817=)
c.96849C= (p.Thr32283=)
c.96846C= (p.Thr32282=)
c.93888C= (p.Thr31296=)
c.75504C= (p.Thr25168=)
c.96999C= (p.Thr32333=)
c.96996C= (p.Thr32332=)
c.96429C= (p.Thr32143=)
c.93771C= (p.Thr31257=)
c.93690C= (p.Thr31230=)
c.75453C= (p.Thr25151=)
c.65307C= (p.Thr21769=)
2g.178534057G>TCA430237926TTN,TTN-AS1c.94854C>A (p.Thr31618=)
c.75939C>A (p.Thr25313=)
c.75738C>A (p.Thr25246=)
c.75363C>A (p.Thr25121=)
c.102558C>A (p.Thr34186=)
c.97635C>A (p.Thr32545=)
n.446+10421G>T
n.220-1675G>T
c.101655C>A (p.Thr33885=)
c.75549C>A (p.Thr25183=)
c.75408C>A (p.Thr25136=)
c.101451C>A (p.Thr33817=)
c.96849C>A (p.Thr32283=)
c.96846C>A (p.Thr32282=)
c.93888C>A (p.Thr31296=)
c.75504C>A (p.Thr25168=)
c.96999C>A (p.Thr32333=)
c.96996C>A (p.Thr32332=)
c.96429C>A (p.Thr32143=)
c.93771C>A (p.Thr31257=)
c.93690C>A (p.Thr31230=)
c.75453C>A (p.Thr25151=)
c.65307C>A (p.Thr21769=)
 dbSNP
2g.178534058G>ACA1985736TTN,TTN-AS1c.94853C>T (p.Thr31618Ile)
c.75938C>T (p.Thr25313Ile)
c.75737C>T (p.Thr25246Ile)
c.75362C>T (p.Thr25121Ile)
c.102557C>T (p.Thr34186Ile)
c.97634C>T (p.Thr32545Ile)
n.446+10422G>A
n.220-1674G>A
c.101654C>T (p.Thr33885Ile)
c.75548C>T (p.Thr25183Ile)
c.75407C>T (p.Thr25136Ile)
c.101450C>T (p.Thr33817Ile)
c.96848C>T (p.Thr32283Ile)
c.96845C>T (p.Thr32282Ile)
c.93887C>T (p.Thr31296Ile)
c.75503C>T (p.Thr25168Ile)
c.96998C>T (p.Thr32333Ile)
c.96995C>T (p.Thr32332Ile)
c.96428C>T (p.Thr32143Ile)
c.93770C>T (p.Thr31257Ile)
c.93689C>T (p.Thr31230Ile)
c.75452C>T (p.Thr25151Ile)
c.65306C>T (p.Thr21769Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178534058G>CCA349417269TTN,TTN-AS1c.94853C>G (p.Thr31618Ser)
c.75938C>G (p.Thr25313Ser)
c.75737C>G (p.Thr25246Ser)
c.75362C>G (p.Thr25121Ser)
c.102557C>G (p.Thr34186Ser)
c.97634C>G (p.Thr32545Ser)
n.446+10422G>C
n.220-1674G>C
c.101654C>G (p.Thr33885Ser)
c.75548C>G (p.Thr25183Ser)
c.75407C>G (p.Thr25136Ser)
c.101450C>G (p.Thr33817Ser)
c.96848C>G (p.Thr32283Ser)
c.96845C>G (p.Thr32282Ser)
c.93887C>G (p.Thr31296Ser)
c.75503C>G (p.Thr25168Ser)
c.96998C>G (p.Thr32333Ser)
c.96995C>G (p.Thr32332Ser)
c.96428C>G (p.Thr32143Ser)
c.93770C>G (p.Thr31257Ser)
c.93689C>G (p.Thr31230Ser)
c.75452C>G (p.Thr25151Ser)
c.65306C>G (p.Thr21769Ser)
2g.178534058G=CA1310518922TTN,TTN-AS1c.94853C= (p.Thr31618=)
c.75938C= (p.Thr25313=)
c.75737C= (p.Thr25246=)
c.75362C= (p.Thr25121=)
c.102557C= (p.Thr34186=)
c.97634C= (p.Thr32545=)
n.446+10422G=
n.220-1674G=
c.101654C= (p.Thr33885=)
c.75548C= (p.Thr25183=)
c.75407C= (p.Thr25136=)
c.101450C= (p.Thr33817=)
c.96848C= (p.Thr32283=)
c.96845C= (p.Thr32282=)
c.93887C= (p.Thr31296=)
c.75503C= (p.Thr25168=)
c.96998C= (p.Thr32333=)
c.96995C= (p.Thr32332=)
c.96428C= (p.Thr32143=)
c.93770C= (p.Thr31257=)
c.93689C= (p.Thr31230=)
c.75452C= (p.Thr25151=)
c.65306C= (p.Thr21769=)
2g.178534058G>TCA349417270TTN,TTN-AS1c.94853C>A (p.Thr31618Asn)
c.75938C>A (p.Thr25313Asn)
c.75737C>A (p.Thr25246Asn)
c.75362C>A (p.Thr25121Asn)
c.102557C>A (p.Thr34186Asn)
c.97634C>A (p.Thr32545Asn)
n.446+10422G>T
n.220-1674G>T
c.101654C>A (p.Thr33885Asn)
c.75548C>A (p.Thr25183Asn)
c.75407C>A (p.Thr25136Asn)
c.101450C>A (p.Thr33817Asn)
c.96848C>A (p.Thr32283Asn)
c.96845C>A (p.Thr32282Asn)
c.93887C>A (p.Thr31296Asn)
c.75503C>A (p.Thr25168Asn)
c.96998C>A (p.Thr32333Asn)
c.96995C>A (p.Thr32332Asn)
c.96428C>A (p.Thr32143Asn)
c.93770C>A (p.Thr31257Asn)
c.93689C>A (p.Thr31230Asn)
c.75452C>A (p.Thr25151Asn)
c.65306C>A (p.Thr21769Asn)
2g.178534059T>ACA349417271TTN,TTN-AS1c.94852A>T (p.Thr31618Ser)
c.75937A>T (p.Thr25313Ser)
c.75736A>T (p.Thr25246Ser)
c.75361A>T (p.Thr25121Ser)
c.102556A>T (p.Thr34186Ser)
c.97633A>T (p.Thr32545Ser)
n.446+10423T>A
n.220-1673T>A
c.101653A>T (p.Thr33885Ser)
c.75547A>T (p.Thr25183Ser)
c.75406A>T (p.Thr25136Ser)
c.101449A>T (p.Thr33817Ser)
c.96847A>T (p.Thr32283Ser)
c.96844A>T (p.Thr32282Ser)
c.93886A>T (p.Thr31296Ser)
c.75502A>T (p.Thr25168Ser)
c.96997A>T (p.Thr32333Ser)
c.96994A>T (p.Thr32332Ser)
c.96427A>T (p.Thr32143Ser)
c.93769A>T (p.Thr31257Ser)
c.93688A>T (p.Thr31230Ser)
c.75451A>T (p.Thr25151Ser)
c.65305A>T (p.Thr21769Ser)
2g.178534059T>CCA349417272TTN,TTN-AS1c.94852A>G (p.Thr31618Ala)
c.75937A>G (p.Thr25313Ala)
c.75736A>G (p.Thr25246Ala)
c.75361A>G (p.Thr25121Ala)
c.102556A>G (p.Thr34186Ala)
c.97633A>G (p.Thr32545Ala)
n.446+10423T>C
n.220-1673T>C
c.101653A>G (p.Thr33885Ala)
c.75547A>G (p.Thr25183Ala)
c.75406A>G (p.Thr25136Ala)
c.101449A>G (p.Thr33817Ala)
c.96847A>G (p.Thr32283Ala)
c.96844A>G (p.Thr32282Ala)
c.93886A>G (p.Thr31296Ala)
c.75502A>G (p.Thr25168Ala)
c.96997A>G (p.Thr32333Ala)
c.96994A>G (p.Thr32332Ala)
c.96427A>G (p.Thr32143Ala)
c.93769A>G (p.Thr31257Ala)
c.93688A>G (p.Thr31230Ala)
c.75451A>G (p.Thr25151Ala)
c.65305A>G (p.Thr21769Ala)
2g.178534059T>GCA349417273TTN,TTN-AS1c.94852A>C (p.Thr31618Pro)
c.75937A>C (p.Thr25313Pro)
c.75736A>C (p.Thr25246Pro)
c.75361A>C (p.Thr25121Pro)
c.102556A>C (p.Thr34186Pro)
c.97633A>C (p.Thr32545Pro)
n.446+10423T>G
n.220-1673T>G
c.101653A>C (p.Thr33885Pro)
c.75547A>C (p.Thr25183Pro)
c.75406A>C (p.Thr25136Pro)
c.101449A>C (p.Thr33817Pro)
c.96847A>C (p.Thr32283Pro)
c.96844A>C (p.Thr32282Pro)
c.93886A>C (p.Thr31296Pro)
c.75502A>C (p.Thr25168Pro)
c.96997A>C (p.Thr32333Pro)
c.96994A>C (p.Thr32332Pro)
c.96427A>C (p.Thr32143Pro)
c.93769A>C (p.Thr31257Pro)
c.93688A>C (p.Thr31230Pro)
c.75451A>C (p.Thr25151Pro)
c.65305A>C (p.Thr21769Pro)
2g.178534060G>ACA430237932TTN,TTN-AS1c.94851C>T (p.Ile31617=)
c.75936C>T (p.Ile25312=)
c.75735C>T (p.Ile25245=)
c.75360C>T (p.Ile25120=)
c.102555C>T (p.Ile34185=)
c.97632C>T (p.Ile32544=)
n.446+10424G>A
n.220-1672G>A
c.101652C>T (p.Ile33884=)
c.75546C>T (p.Ile25182=)
c.75405C>T (p.Ile25135=)
c.101448C>T (p.Ile33816=)
c.96846C>T (p.Ile32282=)
c.96843C>T (p.Ile32281=)
c.93885C>T (p.Ile31295=)
c.75501C>T (p.Ile25167=)
c.96996C>T (p.Ile32332=)
c.96993C>T (p.Ile32331=)
c.96426C>T (p.Ile32142=)
c.93768C>T (p.Ile31256=)
c.93687C>T (p.Ile31229=)
c.75450C>T (p.Ile25150=)
c.65304C>T (p.Ile21768=)
2g.178534060G>CCA349417274TTN,TTN-AS1c.94851C>G (p.Ile31617Met)
c.75936C>G (p.Ile25312Met)
c.75735C>G (p.Ile25245Met)
c.75360C>G (p.Ile25120Met)
c.102555C>G (p.Ile34185Met)
c.97632C>G (p.Ile32544Met)
n.446+10424G>C
n.220-1672G>C
c.101652C>G (p.Ile33884Met)
c.75546C>G (p.Ile25182Met)
c.75405C>G (p.Ile25135Met)
c.101448C>G (p.Ile33816Met)
c.96846C>G (p.Ile32282Met)
c.96843C>G (p.Ile32281Met)
c.93885C>G (p.Ile31295Met)
c.75501C>G (p.Ile25167Met)
c.96996C>G (p.Ile32332Met)
c.96993C>G (p.Ile32331Met)
c.96426C>G (p.Ile32142Met)
c.93768C>G (p.Ile31256Met)
c.93687C>G (p.Ile31229Met)
c.75450C>G (p.Ile25150Met)
c.65304C>G (p.Ile21768Met)
2g.178534060G>TCA430237935TTN,TTN-AS1c.94851C>A (p.Ile31617=)
c.75936C>A (p.Ile25312=)
c.75735C>A (p.Ile25245=)
c.75360C>A (p.Ile25120=)
c.102555C>A (p.Ile34185=)
c.97632C>A (p.Ile32544=)
n.446+10424G>T
n.220-1672G>T
c.101652C>A (p.Ile33884=)
c.75546C>A (p.Ile25182=)
c.75405C>A (p.Ile25135=)
c.101448C>A (p.Ile33816=)
c.96846C>A (p.Ile32282=)
c.96843C>A (p.Ile32281=)
c.93885C>A (p.Ile31295=)
c.75501C>A (p.Ile25167=)
c.96996C>A (p.Ile32332=)
c.96993C>A (p.Ile32331=)
c.96426C>A (p.Ile32142=)
c.93768C>A (p.Ile31256=)
c.93687C>A (p.Ile31229=)
c.75450C>A (p.Ile25150=)
c.65304C>A (p.Ile21768=)
 gnomAD v4
2g.178534061A=CA1310518923TTN,TTN-AS1c.94850T= (p.Ile31617=)
c.75935T= (p.Ile25312=)
c.75734T= (p.Ile25245=)
c.75359T= (p.Ile25120=)
c.102554T= (p.Ile34185=)
c.97631T= (p.Ile32544=)
n.446+10425A=
n.220-1671A=
c.101651T= (p.Ile33884=)
c.75545T= (p.Ile25182=)
c.75404T= (p.Ile25135=)
c.101447T= (p.Ile33816=)
c.96845T= (p.Ile32282=)
c.96842T= (p.Ile32281=)
c.93884T= (p.Ile31295=)
c.75500T= (p.Ile25167=)
c.96995T= (p.Ile32332=)
c.96992T= (p.Ile32331=)
c.96425T= (p.Ile32142=)
c.93767T= (p.Ile31256=)
c.93686T= (p.Ile31229=)
c.75449T= (p.Ile25150=)
c.65303T= (p.Ile21768=)
2g.178534061A>CCA349417275TTN,TTN-AS1c.94850T>G (p.Ile31617Ser)
c.75935T>G (p.Ile25312Ser)
c.75734T>G (p.Ile25245Ser)
c.75359T>G (p.Ile25120Ser)
c.102554T>G (p.Ile34185Ser)
c.97631T>G (p.Ile32544Ser)
n.446+10425A>C
n.220-1671A>C
c.101651T>G (p.Ile33884Ser)
c.75545T>G (p.Ile25182Ser)
c.75404T>G (p.Ile25135Ser)
c.101447T>G (p.Ile33816Ser)
c.96845T>G (p.Ile32282Ser)
c.96842T>G (p.Ile32281Ser)
c.93884T>G (p.Ile31295Ser)
c.75500T>G (p.Ile25167Ser)
c.96995T>G (p.Ile32332Ser)
c.96992T>G (p.Ile32331Ser)
c.96425T>G (p.Ile32142Ser)
c.93767T>G (p.Ile31256Ser)
c.93686T>G (p.Ile31229Ser)
c.75449T>G (p.Ile25150Ser)
c.65303T>G (p.Ile21768Ser)
2g.178534061A>GCA349417276TTN,TTN-AS1c.94850T>C (p.Ile31617Thr)
c.75935T>C (p.Ile25312Thr)
c.75734T>C (p.Ile25245Thr)
c.75359T>C (p.Ile25120Thr)
c.102554T>C (p.Ile34185Thr)
c.97631T>C (p.Ile32544Thr)
n.446+10425A>G
n.220-1671A>G
c.101651T>C (p.Ile33884Thr)
c.75545T>C (p.Ile25182Thr)
c.75404T>C (p.Ile25135Thr)
c.101447T>C (p.Ile33816Thr)
c.96845T>C (p.Ile32282Thr)
c.96842T>C (p.Ile32281Thr)
c.93884T>C (p.Ile31295Thr)
c.75500T>C (p.Ile25167Thr)
c.96995T>C (p.Ile32332Thr)
c.96992T>C (p.Ile32331Thr)
c.96425T>C (p.Ile32142Thr)
c.93767T>C (p.Ile31256Thr)
c.93686T>C (p.Ile31229Thr)
c.75449T>C (p.Ile25150Thr)
c.65303T>C (p.Ile21768Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.178534061A>TCA349417277TTN,TTN-AS1c.94850T>A (p.Ile31617Asn)
c.75935T>A (p.Ile25312Asn)
c.75734T>A (p.Ile25245Asn)
c.75359T>A (p.Ile25120Asn)
c.102554T>A (p.Ile34185Asn)
c.97631T>A (p.Ile32544Asn)
n.446+10425A>T
n.220-1671A>T
c.101651T>A (p.Ile33884Asn)
c.75545T>A (p.Ile25182Asn)
c.75404T>A (p.Ile25135Asn)
c.101447T>A (p.Ile33816Asn)
c.96845T>A (p.Ile32282Asn)
c.96842T>A (p.Ile32281Asn)
c.93884T>A (p.Ile31295Asn)
c.75500T>A (p.Ile25167Asn)
c.96995T>A (p.Ile32332Asn)
c.96992T>A (p.Ile32331Asn)
c.96425T>A (p.Ile32142Asn)
c.93767T>A (p.Ile31256Asn)
c.93686T>A (p.Ile31229Asn)
c.75449T>A (p.Ile25150Asn)
c.65303T>A (p.Ile21768Asn)
 ClinVar dbSNP
2g.178534062T>ACA349417278TTN,TTN-AS1c.94849A>T (p.Ile31617Phe)
c.75934A>T (p.Ile25312Phe)
c.75733A>T (p.Ile25245Phe)
c.75358A>T (p.Ile25120Phe)
c.102553A>T (p.Ile34185Phe)
c.97630A>T (p.Ile32544Phe)
n.446+10426T>A
n.220-1670T>A
c.101650A>T (p.Ile33884Phe)
c.75544A>T (p.Ile25182Phe)
c.75403A>T (p.Ile25135Phe)
c.101446A>T (p.Ile33816Phe)
c.96844A>T (p.Ile32282Phe)
c.96841A>T (p.Ile32281Phe)
c.93883A>T (p.Ile31295Phe)
c.75499A>T (p.Ile25167Phe)
c.96994A>T (p.Ile32332Phe)
c.96991A>T (p.Ile32331Phe)
c.96424A>T (p.Ile32142Phe)
c.93766A>T (p.Ile31256Phe)
c.93685A>T (p.Ile31229Phe)
c.75448A>T (p.Ile25150Phe)
c.65302A>T (p.Ile21768Phe)
2g.178534062T>CCA349417280TTN,TTN-AS1c.94849A>G (p.Ile31617Val)
c.75934A>G (p.Ile25312Val)
c.75733A>G (p.Ile25245Val)
c.75358A>G (p.Ile25120Val)
c.102553A>G (p.Ile34185Val)
c.97630A>G (p.Ile32544Val)
n.446+10426T>C
n.220-1670T>C
c.101650A>G (p.Ile33884Val)
c.75544A>G (p.Ile25182Val)
c.75403A>G (p.Ile25135Val)
c.101446A>G (p.Ile33816Val)
c.96844A>G (p.Ile32282Val)
c.96841A>G (p.Ile32281Val)
c.93883A>G (p.Ile31295Val)
c.75499A>G (p.Ile25167Val)
c.96994A>G (p.Ile32332Val)
c.96991A>G (p.Ile32331Val)
c.96424A>G (p.Ile32142Val)
c.93766A>G (p.Ile31256Val)
c.93685A>G (p.Ile31229Val)
c.75448A>G (p.Ile25150Val)
c.65302A>G (p.Ile21768Val)
2g.178534062T>GCA349417279TTN,TTN-AS1c.94849A>C (p.Ile31617Leu)
c.75934A>C (p.Ile25312Leu)
c.75733A>C (p.Ile25245Leu)
c.75358A>C (p.Ile25120Leu)
c.102553A>C (p.Ile34185Leu)
c.97630A>C (p.Ile32544Leu)
n.446+10426T>G
n.220-1670T>G
c.101650A>C (p.Ile33884Leu)
c.75544A>C (p.Ile25182Leu)
c.75403A>C (p.Ile25135Leu)
c.101446A>C (p.Ile33816Leu)
c.96844A>C (p.Ile32282Leu)
c.96841A>C (p.Ile32281Leu)
c.93883A>C (p.Ile31295Leu)
c.75499A>C (p.Ile25167Leu)
c.96994A>C (p.Ile32332Leu)
c.96991A>C (p.Ile32331Leu)
c.96424A>C (p.Ile32142Leu)
c.93766A>C (p.Ile31256Leu)
c.93685A>C (p.Ile31229Leu)
c.75448A>C (p.Ile25150Leu)
c.65302A>C (p.Ile21768Leu)
 gnomAD v3 gnomAD v4
2g.178534063T>ACA349417281TTN,TTN-AS1c.94848A>T (p.Glu31616Asp)
c.75933A>T (p.Glu25311Asp)
c.75732A>T (p.Glu25244Asp)
c.75357A>T (p.Glu25119Asp)
c.102552A>T (p.Glu34184Asp)
c.97629A>T (p.Glu32543Asp)
n.446+10427T>A
n.220-1669T>A
c.101649A>T (p.Glu33883Asp)
c.75543A>T (p.Glu25181Asp)
c.75402A>T (p.Glu25134Asp)
c.101445A>T (p.Glu33815Asp)
c.96843A>T (p.Glu32281Asp)
c.96840A>T (p.Glu32280Asp)
c.93882A>T (p.Glu31294Asp)
c.75498A>T (p.Glu25166Asp)
c.96993A>T (p.Glu32331Asp)
c.96990A>T (p.Glu32330Asp)
c.96423A>T (p.Glu32141Asp)
c.93765A>T (p.Glu31255Asp)
c.93684A>T (p.Glu31228Asp)
c.75447A>T (p.Glu25149Asp)
c.65301A>T (p.Glu21767Asp)
 dbSNP
2g.178534063T>CCA430237941TTN,TTN-AS1c.94848A>G (p.Glu31616=)
c.75933A>G (p.Glu25311=)
c.75732A>G (p.Glu25244=)
c.75357A>G (p.Glu25119=)
c.102552A>G (p.Glu34184=)
c.97629A>G (p.Glu32543=)
n.446+10427T>C
n.220-1669T>C
c.101649A>G (p.Glu33883=)
c.75543A>G (p.Glu25181=)
c.75402A>G (p.Glu25134=)
c.101445A>G (p.Glu33815=)
c.96843A>G (p.Glu32281=)
c.96840A>G (p.Glu32280=)
c.93882A>G (p.Glu31294=)
c.75498A>G (p.Glu25166=)
c.96993A>G (p.Glu32331=)
c.96990A>G (p.Glu32330=)
c.96423A>G (p.Glu32141=)
c.93765A>G (p.Glu31255=)
c.93684A>G (p.Glu31228=)
c.75447A>G (p.Glu25149=)
c.65301A>G (p.Glu21767=)
2g.178534063T>GCA349417282TTN,TTN-AS1c.94848A>C (p.Glu31616Asp)
c.75933A>C (p.Glu25311Asp)
c.75732A>C (p.Glu25244Asp)
c.75357A>C (p.Glu25119Asp)
c.102552A>C (p.Glu34184Asp)
c.97629A>C (p.Glu32543Asp)
n.446+10427T>G
n.220-1669T>G
c.101649A>C (p.Glu33883Asp)
c.75543A>C (p.Glu25181Asp)
c.75402A>C (p.Glu25134Asp)
c.101445A>C (p.Glu33815Asp)
c.96843A>C (p.Glu32281Asp)
c.96840A>C (p.Glu32280Asp)
c.93882A>C (p.Glu31294Asp)
c.75498A>C (p.Glu25166Asp)
c.96993A>C (p.Glu32331Asp)
c.96990A>C (p.Glu32330Asp)
c.96423A>C (p.Glu32141Asp)
c.93765A>C (p.Glu31255Asp)
c.93684A>C (p.Glu31228Asp)
c.75447A>C (p.Glu25149Asp)
c.65301A>C (p.Glu21767Asp)
2g.178534063T=CA1310518924TTN,TTN-AS1c.94848A= (p.Glu31616=)
c.75933A= (p.Glu25311=)
c.75732A= (p.Glu25244=)
c.75357A= (p.Glu25119=)
c.102552A= (p.Glu34184=)
c.97629A= (p.Glu32543=)
n.446+10427T=
n.220-1669T=
c.101649A= (p.Glu33883=)
c.75543A= (p.Glu25181=)
c.75402A= (p.Glu25134=)
c.101445A= (p.Glu33815=)
c.96843A= (p.Glu32281=)
c.96840A= (p.Glu32280=)
c.93882A= (p.Glu31294=)
c.75498A= (p.Glu25166=)
c.96993A= (p.Glu32331=)
c.96990A= (p.Glu32330=)
c.96423A= (p.Glu32141=)
c.93765A= (p.Glu31255=)
c.93684A= (p.Glu31228=)
c.75447A= (p.Glu25149=)
c.65301A= (p.Glu21767=)
2g.178534064T>ACA349417283TTN,TTN-AS1c.94847A>T (p.Glu31616Val)
c.75932A>T (p.Glu25311Val)
c.75731A>T (p.Glu25244Val)
c.75356A>T (p.Glu25119Val)
c.102551A>T (p.Glu34184Val)
c.97628A>T (p.Glu32543Val)
n.446+10428T>A
n.220-1668T>A
c.101648A>T (p.Glu33883Val)
c.75542A>T (p.Glu25181Val)
c.75401A>T (p.Glu25134Val)
c.101444A>T (p.Glu33815Val)
c.96842A>T (p.Glu32281Val)
c.96839A>T (p.Glu32280Val)
c.93881A>T (p.Glu31294Val)
c.75497A>T (p.Glu25166Val)
c.96992A>T (p.Glu32331Val)
c.96989A>T (p.Glu32330Val)
c.96422A>T (p.Glu32141Val)
c.93764A>T (p.Glu31255Val)
c.93683A>T (p.Glu31228Val)
c.75446A>T (p.Glu25149Val)
c.65300A>T (p.Glu21767Val)
2g.178534064T>CCA349417284TTN,TTN-AS1c.94847A>G (p.Glu31616Gly)
c.75932A>G (p.Glu25311Gly)
c.75731A>G (p.Glu25244Gly)
c.75356A>G (p.Glu25119Gly)
c.102551A>G (p.Glu34184Gly)
c.97628A>G (p.Glu32543Gly)
n.446+10428T>C
n.220-1668T>C
c.101648A>G (p.Glu33883Gly)
c.75542A>G (p.Glu25181Gly)
c.75401A>G (p.Glu25134Gly)
c.101444A>G (p.Glu33815Gly)
c.96842A>G (p.Glu32281Gly)
c.96839A>G (p.Glu32280Gly)
c.93881A>G (p.Glu31294Gly)
c.75497A>G (p.Glu25166Gly)
c.96992A>G (p.Glu32331Gly)
c.96989A>G (p.Glu32330Gly)
c.96422A>G (p.Glu32141Gly)
c.93764A>G (p.Glu31255Gly)
c.93683A>G (p.Glu31228Gly)
c.75446A>G (p.Glu25149Gly)
c.65300A>G (p.Glu21767Gly)
2g.178534064T>GCA60959150TTN,TTN-AS1c.94847A>C (p.Glu31616Ala)
c.75932A>C (p.Glu25311Ala)
c.75731A>C (p.Glu25244Ala)
c.75356A>C (p.Glu25119Ala)
c.102551A>C (p.Glu34184Ala)
c.97628A>C (p.Glu32543Ala)
n.446+10428T>G
n.220-1668T>G
c.101648A>C (p.Glu33883Ala)
c.75542A>C (p.Glu25181Ala)
c.75401A>C (p.Glu25134Ala)
c.101444A>C (p.Glu33815Ala)
c.96842A>C (p.Glu32281Ala)
c.96839A>C (p.Glu32280Ala)
c.93881A>C (p.Glu31294Ala)
c.75497A>C (p.Glu25166Ala)
c.96992A>C (p.Glu32331Ala)
c.96989A>C (p.Glu32330Ala)
c.96422A>C (p.Glu32141Ala)
c.93764A>C (p.Glu31255Ala)
c.93683A>C (p.Glu31228Ala)
c.75446A>C (p.Glu25149Ala)
c.65300A>C (p.Glu21767Ala)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.178534064T=CA1310518925TTN,TTN-AS1c.94847A= (p.Glu31616=)
c.75932A= (p.Glu25311=)
c.75731A= (p.Glu25244=)
c.75356A= (p.Glu25119=)
c.102551A= (p.Glu34184=)
c.97628A= (p.Glu32543=)
n.446+10428T=
n.220-1668T=
c.101648A= (p.Glu33883=)
c.75542A= (p.Glu25181=)
c.75401A= (p.Glu25134=)
c.101444A= (p.Glu33815=)
c.96842A= (p.Glu32281=)
c.96839A= (p.Glu32280=)
c.93881A= (p.Glu31294=)
c.75497A= (p.Glu25166=)
c.96992A= (p.Glu32331=)
c.96989A= (p.Glu32330=)
c.96422A= (p.Glu32141=)
c.93764A= (p.Glu31255=)
c.93683A= (p.Glu31228=)
c.75446A= (p.Glu25149=)
c.65300A= (p.Glu21767=)
2g.178534065C>ACA349417286TTN,TTN-AS1c.94846G>T (p.Glu31616Ter)
c.75931G>T (p.Glu25311Ter)
c.75730G>T (p.Glu25244Ter)
c.75355G>T (p.Glu25119Ter)
c.102550G>T (p.Glu34184Ter)
c.97627G>T (p.Glu32543Ter)
n.446+10429C>A
n.220-1667C>A
c.101647G>T (p.Glu33883Ter)
c.75541G>T (p.Glu25181Ter)
c.75400G>T (p.Glu25134Ter)
c.101443G>T (p.Glu33815Ter)
c.96841G>T (p.Glu32281Ter)
c.96838G>T (p.Glu32280Ter)
c.93880G>T (p.Glu31294Ter)
c.75496G>T (p.Glu25166Ter)
c.96991G>T (p.Glu32331Ter)
c.96988G>T (p.Glu32330Ter)
c.96421G>T (p.Glu32141Ter)
c.93763G>T (p.Glu31255Ter)
c.93682G>T (p.Glu31228Ter)
c.75445G>T (p.Glu25149Ter)
c.65299G>T (p.Glu21767Ter)
2g.178534065C=CA1310518926TTN,TTN-AS1c.94846G= (p.Glu31616=)
c.75931G= (p.Glu25311=)
c.75730G= (p.Glu25244=)
c.75355G= (p.Glu25119=)
c.102550G= (p.Glu34184=)
c.97627G= (p.Glu32543=)
n.446+10429C=
n.220-1667C=
c.101647G= (p.Glu33883=)
c.75541G= (p.Glu25181=)
c.75400G= (p.Glu25134=)
c.101443G= (p.Glu33815=)
c.96841G= (p.Glu32281=)
c.96838G= (p.Glu32280=)
c.93880G= (p.Glu31294=)
c.75496G= (p.Glu25166=)
c.96991G= (p.Glu32331=)
c.96988G= (p.Glu32330=)
c.96421G= (p.Glu32141=)
c.93763G= (p.Glu31255=)
c.93682G= (p.Glu31228=)
c.75445G= (p.Glu25149=)
c.65299G= (p.Glu21767=)
2g.178534065C>GCA349417285TTN,TTN-AS1c.94846G>C (p.Glu31616Gln)
c.75931G>C (p.Glu25311Gln)
c.75730G>C (p.Glu25244Gln)
c.75355G>C (p.Glu25119Gln)
c.102550G>C (p.Glu34184Gln)
c.97627G>C (p.Glu32543Gln)
n.446+10429C>G
n.220-1667C>G
c.101647G>C (p.Glu33883Gln)
c.75541G>C (p.Glu25181Gln)
c.75400G>C (p.Glu25134Gln)
c.101443G>C (p.Glu33815Gln)
c.96841G>C (p.Glu32281Gln)
c.96838G>C (p.Glu32280Gln)
c.93880G>C (p.Glu31294Gln)
c.75496G>C (p.Glu25166Gln)
c.96991G>C (p.Glu32331Gln)
c.96988G>C (p.Glu32330Gln)
c.96421G>C (p.Glu32141Gln)
c.93763G>C (p.Glu31255Gln)
c.93682G>C (p.Glu31228Gln)
c.75445G>C (p.Glu25149Gln)
c.65299G>C (p.Glu21767Gln)
2g.178534065C>TCA1985737TTN,TTN-AS1c.94846G>A (p.Glu31616Lys)
c.75931G>A (p.Glu25311Lys)
c.75730G>A (p.Glu25244Lys)
c.75355G>A (p.Glu25119Lys)
c.102550G>A (p.Glu34184Lys)
c.97627G>A (p.Glu32543Lys)
n.446+10429C>T
n.220-1667C>T
c.101647G>A (p.Glu33883Lys)
c.75541G>A (p.Glu25181Lys)
c.75400G>A (p.Glu25134Lys)
c.101443G>A (p.Glu33815Lys)
c.96841G>A (p.Glu32281Lys)
c.96838G>A (p.Glu32280Lys)
c.93880G>A (p.Glu31294Lys)
c.75496G>A (p.Glu25166Lys)
c.96991G>A (p.Glu32331Lys)
c.96988G>A (p.Glu32330Lys)
c.96421G>A (p.Glu32141Lys)
c.93763G>A (p.Glu31255Lys)
c.93682G>A (p.Glu31228Lys)
c.75445G>A (p.Glu25149Lys)
c.65299G>A (p.Glu21767Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
2g.178534066G>ACA1985738TTN,TTN-AS1c.94845C>T (p.Tyr31615=)
c.75930C>T (p.Tyr25310=)
c.75729C>T (p.Tyr25243=)
c.75354C>T (p.Tyr25118=)
c.102549C>T (p.Tyr34183=)
c.97626C>T (p.Tyr32542=)
n.446+10430G>A
n.220-1666G>A
c.101646C>T (p.Tyr33882=)
c.75540C>T (p.Tyr25180=)
c.75399C>T (p.Tyr25133=)
c.101442C>T (p.Tyr33814=)
c.96840C>T (p.Tyr32280=)
c.96837C>T (p.Tyr32279=)
c.93879C>T (p.Tyr31293=)
c.75495C>T (p.Tyr25165=)
c.96990C>T (p.Tyr32330=)
c.96987C>T (p.Tyr32329=)
c.96420C>T (p.Tyr32140=)
c.93762C>T (p.Tyr31254=)
c.93681C>T (p.Tyr31227=)
c.75444C>T (p.Tyr25148=)
c.65298C>T (p.Tyr21766=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
2g.178534066G>CCA349417287TTN,TTN-AS1c.94845C>G (p.Tyr31615Ter)
c.75930C>G (p.Tyr25310Ter)
c.75729C>G (p.Tyr25243Ter)
c.75354C>G (p.Tyr25118Ter)
c.102549C>G (p.Tyr34183Ter)
c.97626C>G (p.Tyr32542Ter)
n.446+10430G>C
n.220-1666G>C
c.101646C>G (p.Tyr33882Ter)
c.75540C>G (p.Tyr25180Ter)
c.75399C>G (p.Tyr25133Ter)
c.101442C>G (p.Tyr33814Ter)
c.96840C>G (p.Tyr32280Ter)
c.96837C>G (p.Tyr32279Ter)
c.93879C>G (p.Tyr31293Ter)
c.75495C>G (p.Tyr25165Ter)
c.96990C>G (p.Tyr32330Ter)
c.96987C>G (p.Tyr32329Ter)
c.96420C>G (p.Tyr32140Ter)
c.93762C>G (p.Tyr31254Ter)
c.93681C>G (p.Tyr31227Ter)
c.75444C>G (p.Tyr25148Ter)
c.65298C>G (p.Tyr21766Ter)
 dbSNP

Number of alleles fetched