Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.178544118_178544202delCA2753331329TTN,TTN-AS1c.88324+1_88325-1del
c.69409+1_69410-1del
c.69208+1_69209-1del
c.68833+1_68834-1del
c.96028+1_96029-1del
c.91105+1_91106-1del
n.446+20482_446+20566del
n.2043+1757_2043+1841del
c.95125+1_95126-1del
c.69019+1_69020-1del
c.68878+1_68879-1del
c.94921+1_94922-1del
c.90319+1_90320-1del
c.90316+1_90317-1del
c.87358+1_87359-1del
c.68974+1_68975-1del
c.90469+1_90470-1del
c.90466+1_90467-1del
c.89899+1_89900-1del
c.87241+1_87242-1del
c.87160+1_87161-1del
c.68923+1_68924-1del
c.58777+1_58778-1del
2g.178544202T>ACA430241618TTN,TTN-AS1c.88323A>T (p.Ile29441=)
c.69408A>T (p.Ile23136=)
c.69207A>T (p.Ile23069=)
c.68832A>T (p.Ile22944=)
c.96027A>T (p.Ile32009=)
c.91104A>T (p.Ile30368=)
n.446+20566T>A
n.2043+1841T>A
c.95124A>T (p.Ile31708=)
c.69018A>T (p.Ile23006=)
c.68877A>T (p.Ile22959=)
c.94920A>T (p.Ile31640=)
c.90318A>T (p.Ile30106=)
c.90315A>T (p.Ile30105=)
c.87357A>T (p.Ile29119=)
c.68973A>T (p.Ile22991=)
c.90468A>T (p.Ile30156=)
c.90465A>T (p.Ile30155=)
c.89898A>T (p.Ile29966=)
c.87240A>T (p.Ile29080=)
c.87159A>T (p.Ile29053=)
c.68922A>T (p.Ile22974=)
c.58776A>T (p.Ile19592=)
2g.178544202T>CCA349454740TTN,TTN-AS1c.88323A>G (p.Ile29441Met)
c.69408A>G (p.Ile23136Met)
c.69207A>G (p.Ile23069Met)
c.68832A>G (p.Ile22944Met)
c.96027A>G (p.Ile32009Met)
c.91104A>G (p.Ile30368Met)
n.446+20566T>C
n.2043+1841T>C
c.95124A>G (p.Ile31708Met)
c.69018A>G (p.Ile23006Met)
c.68877A>G (p.Ile22959Met)
c.94920A>G (p.Ile31640Met)
c.90318A>G (p.Ile30106Met)
c.90315A>G (p.Ile30105Met)
c.87357A>G (p.Ile29119Met)
c.68973A>G (p.Ile22991Met)
c.90468A>G (p.Ile30156Met)
c.90465A>G (p.Ile30155Met)
c.89898A>G (p.Ile29966Met)
c.87240A>G (p.Ile29080Met)
c.87159A>G (p.Ile29053Met)
c.68922A>G (p.Ile22974Met)
c.58776A>G (p.Ile19592Met)
 gnomAD v4
2g.178544202T>GCA430241619TTN,TTN-AS1c.88323A>C (p.Ile29441=)
c.69408A>C (p.Ile23136=)
c.69207A>C (p.Ile23069=)
c.68832A>C (p.Ile22944=)
c.96027A>C (p.Ile32009=)
c.91104A>C (p.Ile30368=)
n.446+20566T>G
n.2043+1841T>G
c.95124A>C (p.Ile31708=)
c.69018A>C (p.Ile23006=)
c.68877A>C (p.Ile22959=)
c.94920A>C (p.Ile31640=)
c.90318A>C (p.Ile30106=)
c.90315A>C (p.Ile30105=)
c.87357A>C (p.Ile29119=)
c.68973A>C (p.Ile22991=)
c.90468A>C (p.Ile30156=)
c.90465A>C (p.Ile30155=)
c.89898A>C (p.Ile29966=)
c.87240A>C (p.Ile29080=)
c.87159A>C (p.Ile29053=)
c.68922A>C (p.Ile22974=)
c.58776A>C (p.Ile19592=)
2g.178544203A=CA1310521408TTN,TTN-AS1c.88322T= (p.Ile29441=)
c.69407T= (p.Ile23136=)
c.69206T= (p.Ile23069=)
c.68831T= (p.Ile22944=)
c.96026T= (p.Ile32009=)
c.91103T= (p.Ile30368=)
n.446+20567A=
n.2043+1842A=
c.95123T= (p.Ile31708=)
c.69017T= (p.Ile23006=)
c.68876T= (p.Ile22959=)
c.94919T= (p.Ile31640=)
c.90317T= (p.Ile30106=)
c.90314T= (p.Ile30105=)
c.87356T= (p.Ile29119=)
c.68972T= (p.Ile22991=)
c.90467T= (p.Ile30156=)
c.90464T= (p.Ile30155=)
c.89897T= (p.Ile29966=)
c.87239T= (p.Ile29080=)
c.87158T= (p.Ile29053=)
c.68921T= (p.Ile22974=)
c.58775T= (p.Ile19592=)
2g.178544203A>CCA1986834TTN,TTN-AS1c.88322T>G (p.Ile29441Arg)
c.69407T>G (p.Ile23136Arg)
c.69206T>G (p.Ile23069Arg)
c.68831T>G (p.Ile22944Arg)
c.96026T>G (p.Ile32009Arg)
c.91103T>G (p.Ile30368Arg)
n.446+20567A>C
n.2043+1842A>C
c.95123T>G (p.Ile31708Arg)
c.69017T>G (p.Ile23006Arg)
c.68876T>G (p.Ile22959Arg)
c.94919T>G (p.Ile31640Arg)
c.90317T>G (p.Ile30106Arg)
c.90314T>G (p.Ile30105Arg)
c.87356T>G (p.Ile29119Arg)
c.68972T>G (p.Ile22991Arg)
c.90467T>G (p.Ile30156Arg)
c.90464T>G (p.Ile30155Arg)
c.89897T>G (p.Ile29966Arg)
c.87239T>G (p.Ile29080Arg)
c.87158T>G (p.Ile29053Arg)
c.68921T>G (p.Ile22974Arg)
c.58775T>G (p.Ile19592Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178544203A>GCA1986835TTN,TTN-AS1c.88322T>C (p.Ile29441Thr)
c.69407T>C (p.Ile23136Thr)
c.69206T>C (p.Ile23069Thr)
c.68831T>C (p.Ile22944Thr)
c.96026T>C (p.Ile32009Thr)
c.91103T>C (p.Ile30368Thr)
n.446+20567A>G
n.2043+1842A>G
c.95123T>C (p.Ile31708Thr)
c.69017T>C (p.Ile23006Thr)
c.68876T>C (p.Ile22959Thr)
c.94919T>C (p.Ile31640Thr)
c.90317T>C (p.Ile30106Thr)
c.90314T>C (p.Ile30105Thr)
c.87356T>C (p.Ile29119Thr)
c.68972T>C (p.Ile22991Thr)
c.90467T>C (p.Ile30156Thr)
c.90464T>C (p.Ile30155Thr)
c.89897T>C (p.Ile29966Thr)
c.87239T>C (p.Ile29080Thr)
c.87158T>C (p.Ile29053Thr)
c.68921T>C (p.Ile22974Thr)
c.58775T>C (p.Ile19592Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178544203A>TCA1986836TTN,TTN-AS1c.88322T>A (p.Ile29441Lys)
c.69407T>A (p.Ile23136Lys)
c.69206T>A (p.Ile23069Lys)
c.68831T>A (p.Ile22944Lys)
c.96026T>A (p.Ile32009Lys)
c.91103T>A (p.Ile30368Lys)
n.446+20567A>T
n.2043+1842A>T
c.95123T>A (p.Ile31708Lys)
c.69017T>A (p.Ile23006Lys)
c.68876T>A (p.Ile22959Lys)
c.94919T>A (p.Ile31640Lys)
c.90317T>A (p.Ile30106Lys)
c.90314T>A (p.Ile30105Lys)
c.87356T>A (p.Ile29119Lys)
c.68972T>A (p.Ile22991Lys)
c.90467T>A (p.Ile30156Lys)
c.90464T>A (p.Ile30155Lys)
c.89897T>A (p.Ile29966Lys)
c.87239T>A (p.Ile29080Lys)
c.87158T>A (p.Ile29053Lys)
c.68921T>A (p.Ile22974Lys)
c.58775T>A (p.Ile19592Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178544204T>ACA349454742TTN,TTN-AS1c.88321A>T (p.Ile29441Leu)
c.69406A>T (p.Ile23136Leu)
c.69205A>T (p.Ile23069Leu)
c.68830A>T (p.Ile22944Leu)
c.96025A>T (p.Ile32009Leu)
c.91102A>T (p.Ile30368Leu)
n.446+20568T>A
n.2043+1843T>A
c.95122A>T (p.Ile31708Leu)
c.69016A>T (p.Ile23006Leu)
c.68875A>T (p.Ile22959Leu)
c.94918A>T (p.Ile31640Leu)
c.90316A>T (p.Ile30106Leu)
c.90313A>T (p.Ile30105Leu)
c.87355A>T (p.Ile29119Leu)
c.68971A>T (p.Ile22991Leu)
c.90466A>T (p.Ile30156Leu)
c.90463A>T (p.Ile30155Leu)
c.89896A>T (p.Ile29966Leu)
c.87238A>T (p.Ile29080Leu)
c.87157A>T (p.Ile29053Leu)
c.68920A>T (p.Ile22974Leu)
c.58774A>T (p.Ile19592Leu)
2g.178544204T>CCA349454743TTN,TTN-AS1c.88321A>G (p.Ile29441Val)
c.69406A>G (p.Ile23136Val)
c.69205A>G (p.Ile23069Val)
c.68830A>G (p.Ile22944Val)
c.96025A>G (p.Ile32009Val)
c.91102A>G (p.Ile30368Val)
n.446+20568T>C
n.2043+1843T>C
c.95122A>G (p.Ile31708Val)
c.69016A>G (p.Ile23006Val)
c.68875A>G (p.Ile22959Val)
c.94918A>G (p.Ile31640Val)
c.90316A>G (p.Ile30106Val)
c.90313A>G (p.Ile30105Val)
c.87355A>G (p.Ile29119Val)
c.68971A>G (p.Ile22991Val)
c.90466A>G (p.Ile30156Val)
c.90463A>G (p.Ile30155Val)
c.89896A>G (p.Ile29966Val)
c.87238A>G (p.Ile29080Val)
c.87157A>G (p.Ile29053Val)
c.68920A>G (p.Ile22974Val)
c.58774A>G (p.Ile19592Val)
 gnomAD v4
2g.178544204T>GCA349454744TTN,TTN-AS1c.88321A>C (p.Ile29441Leu)
c.69406A>C (p.Ile23136Leu)
c.69205A>C (p.Ile23069Leu)
c.68830A>C (p.Ile22944Leu)
c.96025A>C (p.Ile32009Leu)
c.91102A>C (p.Ile30368Leu)
n.446+20568T>G
n.2043+1843T>G
c.95122A>C (p.Ile31708Leu)
c.69016A>C (p.Ile23006Leu)
c.68875A>C (p.Ile22959Leu)
c.94918A>C (p.Ile31640Leu)
c.90316A>C (p.Ile30106Leu)
c.90313A>C (p.Ile30105Leu)
c.87355A>C (p.Ile29119Leu)
c.68971A>C (p.Ile22991Leu)
c.90466A>C (p.Ile30156Leu)
c.90463A>C (p.Ile30155Leu)
c.89896A>C (p.Ile29966Leu)
c.87238A>C (p.Ile29080Leu)
c.87157A>C (p.Ile29053Leu)
c.68920A>C (p.Ile22974Leu)
c.58774A>C (p.Ile19592Leu)
 dbSNP gnomAD v3 gnomAD v4
2g.178544204T=CA1310521410TTN,TTN-AS1c.88321A= (p.Ile29441=)
c.69406A= (p.Ile23136=)
c.69205A= (p.Ile23069=)
c.68830A= (p.Ile22944=)
c.96025A= (p.Ile32009=)
c.91102A= (p.Ile30368=)
n.446+20568T=
n.2043+1843T=
c.95122A= (p.Ile31708=)
c.69016A= (p.Ile23006=)
c.68875A= (p.Ile22959=)
c.94918A= (p.Ile31640=)
c.90316A= (p.Ile30106=)
c.90313A= (p.Ile30105=)
c.87355A= (p.Ile29119=)
c.68971A= (p.Ile22991=)
c.90466A= (p.Ile30156=)
c.90463A= (p.Ile30155=)
c.89896A= (p.Ile29966=)
c.87238A= (p.Ile29080=)
c.87157A= (p.Ile29053=)
c.68920A= (p.Ile22974=)
c.58774A= (p.Ile19592=)
2g.178544205T>ACA349454755TTN,TTN-AS1c.88320A>T (p.Arg29440Ser)
c.69405A>T (p.Arg23135Ser)
c.69204A>T (p.Arg23068Ser)
c.68829A>T (p.Arg22943Ser)
c.96024A>T (p.Arg32008Ser)
c.91101A>T (p.Arg30367Ser)
n.446+20569T>A
n.2043+1844T>A
c.95121A>T (p.Arg31707Ser)
c.69015A>T (p.Arg23005Ser)
c.68874A>T (p.Arg22958Ser)
c.94917A>T (p.Arg31639Ser)
c.90315A>T (p.Arg30105Ser)
c.90312A>T (p.Arg30104Ser)
c.87354A>T (p.Arg29118Ser)
c.68970A>T (p.Arg22990Ser)
c.90465A>T (p.Arg30155Ser)
c.90462A>T (p.Arg30154Ser)
c.89895A>T (p.Arg29965Ser)
c.87237A>T (p.Arg29079Ser)
c.87156A>T (p.Arg29052Ser)
c.68919A>T (p.Arg22973Ser)
c.58773A>T (p.Arg19591Ser)
2g.178544205T>CCA430241622TTN,TTN-AS1c.88320A>G (p.Arg29440=)
c.69405A>G (p.Arg23135=)
c.69204A>G (p.Arg23068=)
c.68829A>G (p.Arg22943=)
c.96024A>G (p.Arg32008=)
c.91101A>G (p.Arg30367=)
n.446+20569T>C
n.2043+1844T>C
c.95121A>G (p.Arg31707=)
c.69015A>G (p.Arg23005=)
c.68874A>G (p.Arg22958=)
c.94917A>G (p.Arg31639=)
c.90315A>G (p.Arg30105=)
c.90312A>G (p.Arg30104=)
c.87354A>G (p.Arg29118=)
c.68970A>G (p.Arg22990=)
c.90465A>G (p.Arg30155=)
c.90462A>G (p.Arg30154=)
c.89895A>G (p.Arg29965=)
c.87237A>G (p.Arg29079=)
c.87156A>G (p.Arg29052=)
c.68919A>G (p.Arg22973=)
c.58773A>G (p.Arg19591=)
2g.178544205T>GCA349454757TTN,TTN-AS1c.88320A>C (p.Arg29440Ser)
c.69405A>C (p.Arg23135Ser)
c.69204A>C (p.Arg23068Ser)
c.68829A>C (p.Arg22943Ser)
c.96024A>C (p.Arg32008Ser)
c.91101A>C (p.Arg30367Ser)
n.446+20569T>G
n.2043+1844T>G
c.95121A>C (p.Arg31707Ser)
c.69015A>C (p.Arg23005Ser)
c.68874A>C (p.Arg22958Ser)
c.94917A>C (p.Arg31639Ser)
c.90315A>C (p.Arg30105Ser)
c.90312A>C (p.Arg30104Ser)
c.87354A>C (p.Arg29118Ser)
c.68970A>C (p.Arg22990Ser)
c.90465A>C (p.Arg30155Ser)
c.90462A>C (p.Arg30154Ser)
c.89895A>C (p.Arg29965Ser)
c.87237A>C (p.Arg29079Ser)
c.87156A>C (p.Arg29052Ser)
c.68919A>C (p.Arg22973Ser)
c.58773A>C (p.Arg19591Ser)
 gnomAD v4
2g.178544206C>ACA349454780TTN,TTN-AS1c.88319G>T (p.Arg29440Ile)
c.69404G>T (p.Arg23135Ile)
c.69203G>T (p.Arg23068Ile)
c.68828G>T (p.Arg22943Ile)
c.96023G>T (p.Arg32008Ile)
c.91100G>T (p.Arg30367Ile)
n.446+20570C>A
n.2043+1845C>A
c.95120G>T (p.Arg31707Ile)
c.69014G>T (p.Arg23005Ile)
c.68873G>T (p.Arg22958Ile)
c.94916G>T (p.Arg31639Ile)
c.90314G>T (p.Arg30105Ile)
c.90311G>T (p.Arg30104Ile)
c.87353G>T (p.Arg29118Ile)
c.68969G>T (p.Arg22990Ile)
c.90464G>T (p.Arg30155Ile)
c.90461G>T (p.Arg30154Ile)
c.89894G>T (p.Arg29965Ile)
c.87236G>T (p.Arg29079Ile)
c.87155G>T (p.Arg29052Ile)
c.68918G>T (p.Arg22973Ile)
c.58772G>T (p.Arg19591Ile)
2g.178544206C>GCA349454762TTN,TTN-AS1c.88319G>C (p.Arg29440Thr)
c.69404G>C (p.Arg23135Thr)
c.69203G>C (p.Arg23068Thr)
c.68828G>C (p.Arg22943Thr)
c.96023G>C (p.Arg32008Thr)
c.91100G>C (p.Arg30367Thr)
n.446+20570C>G
n.2043+1845C>G
c.95120G>C (p.Arg31707Thr)
c.69014G>C (p.Arg23005Thr)
c.68873G>C (p.Arg22958Thr)
c.94916G>C (p.Arg31639Thr)
c.90314G>C (p.Arg30105Thr)
c.90311G>C (p.Arg30104Thr)
c.87353G>C (p.Arg29118Thr)
c.68969G>C (p.Arg22990Thr)
c.90464G>C (p.Arg30155Thr)
c.90461G>C (p.Arg30154Thr)
c.89894G>C (p.Arg29965Thr)
c.87236G>C (p.Arg29079Thr)
c.87155G>C (p.Arg29052Thr)
c.68918G>C (p.Arg22973Thr)
c.58772G>C (p.Arg19591Thr)
 COSMIC COSMIC COSMIC COSMIC
2g.178544206C>TCA349454773TTN,TTN-AS1c.88319G>A (p.Arg29440Lys)
c.69404G>A (p.Arg23135Lys)
c.69203G>A (p.Arg23068Lys)
c.68828G>A (p.Arg22943Lys)
c.96023G>A (p.Arg32008Lys)
c.91100G>A (p.Arg30367Lys)
n.446+20570C>T
n.2043+1845C>T
c.95120G>A (p.Arg31707Lys)
c.69014G>A (p.Arg23005Lys)
c.68873G>A (p.Arg22958Lys)
c.94916G>A (p.Arg31639Lys)
c.90314G>A (p.Arg30105Lys)
c.90311G>A (p.Arg30104Lys)
c.87353G>A (p.Arg29118Lys)
c.68969G>A (p.Arg22990Lys)
c.90464G>A (p.Arg30155Lys)
c.90461G>A (p.Arg30154Lys)
c.89894G>A (p.Arg29965Lys)
c.87236G>A (p.Arg29079Lys)
c.87155G>A (p.Arg29052Lys)
c.68918G>A (p.Arg22973Lys)
c.58772G>A (p.Arg19591Lys)
 COSMIC COSMIC COSMIC COSMIC
2g.178544207T>ACA349454788TTN,TTN-AS1c.88318A>T (p.Arg29440Ter)
c.69403A>T (p.Arg23135Ter)
c.69202A>T (p.Arg23068Ter)
c.68827A>T (p.Arg22943Ter)
c.96022A>T (p.Arg32008Ter)
c.91099A>T (p.Arg30367Ter)
n.446+20571T>A
n.2043+1846T>A
c.95119A>T (p.Arg31707Ter)
c.69013A>T (p.Arg23005Ter)
c.68872A>T (p.Arg22958Ter)
c.94915A>T (p.Arg31639Ter)
c.90313A>T (p.Arg30105Ter)
c.90310A>T (p.Arg30104Ter)
c.87352A>T (p.Arg29118Ter)
c.68968A>T (p.Arg22990Ter)
c.90463A>T (p.Arg30155Ter)
c.90460A>T (p.Arg30154Ter)
c.89893A>T (p.Arg29965Ter)
c.87235A>T (p.Arg29079Ter)
c.87154A>T (p.Arg29052Ter)
c.68917A>T (p.Arg22973Ter)
c.58771A>T (p.Arg19591Ter)
2g.178544207T>CCA349454798TTN,TTN-AS1c.88318A>G (p.Arg29440Gly)
c.69403A>G (p.Arg23135Gly)
c.69202A>G (p.Arg23068Gly)
c.68827A>G (p.Arg22943Gly)
c.96022A>G (p.Arg32008Gly)
c.91099A>G (p.Arg30367Gly)
n.446+20571T>C
n.2043+1846T>C
c.95119A>G (p.Arg31707Gly)
c.69013A>G (p.Arg23005Gly)
c.68872A>G (p.Arg22958Gly)
c.94915A>G (p.Arg31639Gly)
c.90313A>G (p.Arg30105Gly)
c.90310A>G (p.Arg30104Gly)
c.87352A>G (p.Arg29118Gly)
c.68968A>G (p.Arg22990Gly)
c.90463A>G (p.Arg30155Gly)
c.90460A>G (p.Arg30154Gly)
c.89893A>G (p.Arg29965Gly)
c.87235A>G (p.Arg29079Gly)
c.87154A>G (p.Arg29052Gly)
c.68917A>G (p.Arg22973Gly)
c.58771A>G (p.Arg19591Gly)
2g.178544207T>GCA1986837TTN,TTN-AS1c.88318A>C (p.Arg29440=)
c.69403A>C (p.Arg23135=)
c.69202A>C (p.Arg23068=)
c.68827A>C (p.Arg22943=)
c.96022A>C (p.Arg32008=)
c.91099A>C (p.Arg30367=)
n.446+20571T>G
n.2043+1846T>G
c.95119A>C (p.Arg31707=)
c.69013A>C (p.Arg23005=)
c.68872A>C (p.Arg22958=)
c.94915A>C (p.Arg31639=)
c.90313A>C (p.Arg30105=)
c.90310A>C (p.Arg30104=)
c.87352A>C (p.Arg29118=)
c.68968A>C (p.Arg22990=)
c.90463A>C (p.Arg30155=)
c.90460A>C (p.Arg30154=)
c.89893A>C (p.Arg29965=)
c.87235A>C (p.Arg29079=)
c.87154A>C (p.Arg29052=)
c.68917A>C (p.Arg22973=)
c.58771A>C (p.Arg19591=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.178544207T=CA1310521412TTN,TTN-AS1c.88318A= (p.Arg29440=)
c.69403A= (p.Arg23135=)
c.69202A= (p.Arg23068=)
c.68827A= (p.Arg22943=)
c.96022A= (p.Arg32008=)
c.91099A= (p.Arg30367=)
n.446+20571T=
n.2043+1846T=
c.95119A= (p.Arg31707=)
c.69013A= (p.Arg23005=)
c.68872A= (p.Arg22958=)
c.94915A= (p.Arg31639=)
c.90313A= (p.Arg30105=)
c.90310A= (p.Arg30104=)
c.87352A= (p.Arg29118=)
c.68968A= (p.Arg22990=)
c.90463A= (p.Arg30155=)
c.90460A= (p.Arg30154=)
c.89893A= (p.Arg29965=)
c.87235A= (p.Arg29079=)
c.87154A= (p.Arg29052=)
c.68917A= (p.Arg22973=)
c.58771A= (p.Arg19591=)
2g.178544208T>ACA349454817TTN,TTN-AS1c.88317A>T (p.Glu29439Asp)
c.69402A>T (p.Glu23134Asp)
c.69201A>T (p.Glu23067Asp)
c.68826A>T (p.Glu22942Asp)
c.96021A>T (p.Glu32007Asp)
c.91098A>T (p.Glu30366Asp)
n.446+20572T>A
n.2043+1847T>A
c.95118A>T (p.Glu31706Asp)
c.69012A>T (p.Glu23004Asp)
c.68871A>T (p.Glu22957Asp)
c.94914A>T (p.Glu31638Asp)
c.90312A>T (p.Glu30104Asp)
c.90309A>T (p.Glu30103Asp)
c.87351A>T (p.Glu29117Asp)
c.68967A>T (p.Glu22989Asp)
c.90462A>T (p.Glu30154Asp)
c.90459A>T (p.Glu30153Asp)
c.89892A>T (p.Glu29964Asp)
c.87234A>T (p.Glu29078Asp)
c.87153A>T (p.Glu29051Asp)
c.68916A>T (p.Glu22972Asp)
c.58770A>T (p.Glu19590Asp)
2g.178544208T>CCA430241628TTN,TTN-AS1c.88317A>G (p.Glu29439=)
c.69402A>G (p.Glu23134=)
c.69201A>G (p.Glu23067=)
c.68826A>G (p.Glu22942=)
c.96021A>G (p.Glu32007=)
c.91098A>G (p.Glu30366=)
n.446+20572T>C
n.2043+1847T>C
c.95118A>G (p.Glu31706=)
c.69012A>G (p.Glu23004=)
c.68871A>G (p.Glu22957=)
c.94914A>G (p.Glu31638=)
c.90312A>G (p.Glu30104=)
c.90309A>G (p.Glu30103=)
c.87351A>G (p.Glu29117=)
c.68967A>G (p.Glu22989=)
c.90462A>G (p.Glu30154=)
c.90459A>G (p.Glu30153=)
c.89892A>G (p.Glu29964=)
c.87234A>G (p.Glu29078=)
c.87153A>G (p.Glu29051=)
c.68916A>G (p.Glu22972=)
c.58770A>G (p.Glu19590=)
2g.178544208T>GCA1986838TTN,TTN-AS1c.88317A>C (p.Glu29439Asp)
c.69402A>C (p.Glu23134Asp)
c.69201A>C (p.Glu23067Asp)
c.68826A>C (p.Glu22942Asp)
c.96021A>C (p.Glu32007Asp)
c.91098A>C (p.Glu30366Asp)
n.446+20572T>G
n.2043+1847T>G
c.95118A>C (p.Glu31706Asp)
c.69012A>C (p.Glu23004Asp)
c.68871A>C (p.Glu22957Asp)
c.94914A>C (p.Glu31638Asp)
c.90312A>C (p.Glu30104Asp)
c.90309A>C (p.Glu30103Asp)
c.87351A>C (p.Glu29117Asp)
c.68967A>C (p.Glu22989Asp)
c.90462A>C (p.Glu30154Asp)
c.90459A>C (p.Glu30153Asp)
c.89892A>C (p.Glu29964Asp)
c.87234A>C (p.Glu29078Asp)
c.87153A>C (p.Glu29051Asp)
c.68916A>C (p.Glu22972Asp)
c.58770A>C (p.Glu19590Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178544208T=CA1310521414TTN,TTN-AS1c.88317A= (p.Glu29439=)
c.69402A= (p.Glu23134=)
c.69201A= (p.Glu23067=)
c.68826A= (p.Glu22942=)
c.96021A= (p.Glu32007=)
c.91098A= (p.Glu30366=)
n.446+20572T=
n.2043+1847T=
c.95118A= (p.Glu31706=)
c.69012A= (p.Glu23004=)
c.68871A= (p.Glu22957=)
c.94914A= (p.Glu31638=)
c.90312A= (p.Glu30104=)
c.90309A= (p.Glu30103=)
c.87351A= (p.Glu29117=)
c.68967A= (p.Glu22989=)
c.90462A= (p.Glu30154=)
c.90459A= (p.Glu30153=)
c.89892A= (p.Glu29964=)
c.87234A= (p.Glu29078=)
c.87153A= (p.Glu29051=)
c.68916A= (p.Glu22972=)
c.58770A= (p.Glu19590=)
2g.178544209T>ACA349454839TTN,TTN-AS1c.88316A>T (p.Glu29439Val)
c.69401A>T (p.Glu23134Val)
c.69200A>T (p.Glu23067Val)
c.68825A>T (p.Glu22942Val)
c.96020A>T (p.Glu32007Val)
c.91097A>T (p.Glu30366Val)
n.446+20573T>A
n.2043+1848T>A
c.95117A>T (p.Glu31706Val)
c.69011A>T (p.Glu23004Val)
c.68870A>T (p.Glu22957Val)
c.94913A>T (p.Glu31638Val)
c.90311A>T (p.Glu30104Val)
c.90308A>T (p.Glu30103Val)
c.87350A>T (p.Glu29117Val)
c.68966A>T (p.Glu22989Val)
c.90461A>T (p.Glu30154Val)
c.90458A>T (p.Glu30153Val)
c.89891A>T (p.Glu29964Val)
c.87233A>T (p.Glu29078Val)
c.87152A>T (p.Glu29051Val)
c.68915A>T (p.Glu22972Val)
c.58769A>T (p.Glu19590Val)
2g.178544209T>CCA349454837TTN,TTN-AS1c.88316A>G (p.Glu29439Gly)
c.69401A>G (p.Glu23134Gly)
c.69200A>G (p.Glu23067Gly)
c.68825A>G (p.Glu22942Gly)
c.96020A>G (p.Glu32007Gly)
c.91097A>G (p.Glu30366Gly)
n.446+20573T>C
n.2043+1848T>C
c.95117A>G (p.Glu31706Gly)
c.69011A>G (p.Glu23004Gly)
c.68870A>G (p.Glu22957Gly)
c.94913A>G (p.Glu31638Gly)
c.90311A>G (p.Glu30104Gly)
c.90308A>G (p.Glu30103Gly)
c.87350A>G (p.Glu29117Gly)
c.68966A>G (p.Glu22989Gly)
c.90461A>G (p.Glu30154Gly)
c.90458A>G (p.Glu30153Gly)
c.89891A>G (p.Glu29964Gly)
c.87233A>G (p.Glu29078Gly)
c.87152A>G (p.Glu29051Gly)
c.68915A>G (p.Glu22972Gly)
c.58769A>G (p.Glu19590Gly)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.178544209T>GCA349454829TTN,TTN-AS1c.88316A>C (p.Glu29439Ala)
c.69401A>C (p.Glu23134Ala)
c.69200A>C (p.Glu23067Ala)
c.68825A>C (p.Glu22942Ala)
c.96020A>C (p.Glu32007Ala)
c.91097A>C (p.Glu30366Ala)
n.446+20573T>G
n.2043+1848T>G
c.95117A>C (p.Glu31706Ala)
c.69011A>C (p.Glu23004Ala)
c.68870A>C (p.Glu22957Ala)
c.94913A>C (p.Glu31638Ala)
c.90311A>C (p.Glu30104Ala)
c.90308A>C (p.Glu30103Ala)
c.87350A>C (p.Glu29117Ala)
c.68966A>C (p.Glu22989Ala)
c.90461A>C (p.Glu30154Ala)
c.90458A>C (p.Glu30153Ala)
c.89891A>C (p.Glu29964Ala)
c.87233A>C (p.Glu29078Ala)
c.87152A>C (p.Glu29051Ala)
c.68915A>C (p.Glu22972Ala)
c.58769A>C (p.Glu19590Ala)
2g.178544209T=CA1310521416TTN,TTN-AS1c.88316A= (p.Glu29439=)
c.69401A= (p.Glu23134=)
c.69200A= (p.Glu23067=)
c.68825A= (p.Glu22942=)
c.96020A= (p.Glu32007=)
c.91097A= (p.Glu30366=)
n.446+20573T=
n.2043+1848T=
c.95117A= (p.Glu31706=)
c.69011A= (p.Glu23004=)
c.68870A= (p.Glu22957=)
c.94913A= (p.Glu31638=)
c.90311A= (p.Glu30104=)
c.90308A= (p.Glu30103=)
c.87350A= (p.Glu29117=)
c.68966A= (p.Glu22989=)
c.90461A= (p.Glu30154=)
c.90458A= (p.Glu30153=)
c.89891A= (p.Glu29964=)
c.87233A= (p.Glu29078=)
c.87152A= (p.Glu29051=)
c.68915A= (p.Glu22972=)
c.58769A= (p.Glu19590=)
2g.178544210C>ACA349454865TTN,TTN-AS1c.88315G>T (p.Glu29439Ter)
c.69400G>T (p.Glu23134Ter)
c.69199G>T (p.Glu23067Ter)
c.68824G>T (p.Glu22942Ter)
c.96019G>T (p.Glu32007Ter)
c.91096G>T (p.Glu30366Ter)
n.446+20574C>A
n.2043+1849C>A
c.95116G>T (p.Glu31706Ter)
c.69010G>T (p.Glu23004Ter)
c.68869G>T (p.Glu22957Ter)
c.94912G>T (p.Glu31638Ter)
c.90310G>T (p.Glu30104Ter)
c.90307G>T (p.Glu30103Ter)
c.87349G>T (p.Glu29117Ter)
c.68965G>T (p.Glu22989Ter)
c.90460G>T (p.Glu30154Ter)
c.90457G>T (p.Glu30153Ter)
c.89890G>T (p.Glu29964Ter)
c.87232G>T (p.Glu29078Ter)
c.87151G>T (p.Glu29051Ter)
c.68914G>T (p.Glu22972Ter)
c.58768G>T (p.Glu19590Ter)
2g.178544210C>GCA349454867TTN,TTN-AS1c.88315G>C (p.Glu29439Gln)
c.69400G>C (p.Glu23134Gln)
c.69199G>C (p.Glu23067Gln)
c.68824G>C (p.Glu22942Gln)
c.96019G>C (p.Glu32007Gln)
c.91096G>C (p.Glu30366Gln)
n.446+20574C>G
n.2043+1849C>G
c.95116G>C (p.Glu31706Gln)
c.69010G>C (p.Glu23004Gln)
c.68869G>C (p.Glu22957Gln)
c.94912G>C (p.Glu31638Gln)
c.90310G>C (p.Glu30104Gln)
c.90307G>C (p.Glu30103Gln)
c.87349G>C (p.Glu29117Gln)
c.68965G>C (p.Glu22989Gln)
c.90460G>C (p.Glu30154Gln)
c.90457G>C (p.Glu30153Gln)
c.89890G>C (p.Glu29964Gln)
c.87232G>C (p.Glu29078Gln)
c.87151G>C (p.Glu29051Gln)
c.68914G>C (p.Glu22972Gln)
c.58768G>C (p.Glu19590Gln)
2g.178544210C>TCA349454866TTN,TTN-AS1c.88315G>A (p.Glu29439Lys)
c.69400G>A (p.Glu23134Lys)
c.69199G>A (p.Glu23067Lys)
c.68824G>A (p.Glu22942Lys)
c.96019G>A (p.Glu32007Lys)
c.91096G>A (p.Glu30366Lys)
n.446+20574C>T
n.2043+1849C>T
c.95116G>A (p.Glu31706Lys)
c.69010G>A (p.Glu23004Lys)
c.68869G>A (p.Glu22957Lys)
c.94912G>A (p.Glu31638Lys)
c.90310G>A (p.Glu30104Lys)
c.90307G>A (p.Glu30103Lys)
c.87349G>A (p.Glu29117Lys)
c.68965G>A (p.Glu22989Lys)
c.90460G>A (p.Glu30154Lys)
c.90457G>A (p.Glu30153Lys)
c.89890G>A (p.Glu29964Lys)
c.87232G>A (p.Glu29078Lys)
c.87151G>A (p.Glu29051Lys)
c.68914G>A (p.Glu22972Lys)
c.58768G>A (p.Glu19590Lys)
2g.178544211C>ACA430241631TTN,TTN-AS1c.88314G>T (p.Val29438=)
c.69399G>T (p.Val23133=)
c.69198G>T (p.Val23066=)
c.68823G>T (p.Val22941=)
c.96018G>T (p.Val32006=)
c.91095G>T (p.Val30365=)
n.446+20575C>A
n.2043+1850C>A
c.95115G>T (p.Val31705=)
c.69009G>T (p.Val23003=)
c.68868G>T (p.Val22956=)
c.94911G>T (p.Val31637=)
c.90309G>T (p.Val30103=)
c.90306G>T (p.Val30102=)
c.87348G>T (p.Val29116=)
c.68964G>T (p.Val22988=)
c.90459G>T (p.Val30153=)
c.90456G>T (p.Val30152=)
c.89889G>T (p.Val29963=)
c.87231G>T (p.Val29077=)
c.87150G>T (p.Val29050=)
c.68913G>T (p.Val22971=)
c.58767G>T (p.Val19589=)
2g.178544211C>GCA430241633TTN,TTN-AS1c.88314G>C (p.Val29438=)
c.69399G>C (p.Val23133=)
c.69198G>C (p.Val23066=)
c.68823G>C (p.Val22941=)
c.96018G>C (p.Val32006=)
c.91095G>C (p.Val30365=)
n.446+20575C>G
n.2043+1850C>G
c.95115G>C (p.Val31705=)
c.69009G>C (p.Val23003=)
c.68868G>C (p.Val22956=)
c.94911G>C (p.Val31637=)
c.90309G>C (p.Val30103=)
c.90306G>C (p.Val30102=)
c.87348G>C (p.Val29116=)
c.68964G>C (p.Val22988=)
c.90459G>C (p.Val30153=)
c.90456G>C (p.Val30152=)
c.89889G>C (p.Val29963=)
c.87231G>C (p.Val29077=)
c.87150G>C (p.Val29050=)
c.68913G>C (p.Val22971=)
c.58767G>C (p.Val19589=)
2g.178544211C>TCA430241637TTN,TTN-AS1c.88314G>A (p.Val29438=)
c.69399G>A (p.Val23133=)
c.69198G>A (p.Val23066=)
c.68823G>A (p.Val22941=)
c.96018G>A (p.Val32006=)
c.91095G>A (p.Val30365=)
n.446+20575C>T
n.2043+1850C>T
c.95115G>A (p.Val31705=)
c.69009G>A (p.Val23003=)
c.68868G>A (p.Val22956=)
c.94911G>A (p.Val31637=)
c.90309G>A (p.Val30103=)
c.90306G>A (p.Val30102=)
c.87348G>A (p.Val29116=)
c.68964G>A (p.Val22988=)
c.90459G>A (p.Val30153=)
c.90456G>A (p.Val30152=)
c.89889G>A (p.Val29963=)
c.87231G>A (p.Val29077=)
c.87150G>A (p.Val29050=)
c.68913G>A (p.Val22971=)
c.58767G>A (p.Val19589=)
2g.178544212A=CA1310521418TTN,TTN-AS1c.88313T= (p.Val29438=)
c.69398T= (p.Val23133=)
c.69197T= (p.Val23066=)
c.68822T= (p.Val22941=)
c.96017T= (p.Val32006=)
c.91094T= (p.Val30365=)
n.446+20576A=
n.2043+1851A=
c.95114T= (p.Val31705=)
c.69008T= (p.Val23003=)
c.68867T= (p.Val22956=)
c.94910T= (p.Val31637=)
c.90308T= (p.Val30103=)
c.90305T= (p.Val30102=)
c.87347T= (p.Val29116=)
c.68963T= (p.Val22988=)
c.90458T= (p.Val30153=)
c.90455T= (p.Val30152=)
c.89888T= (p.Val29963=)
c.87230T= (p.Val29077=)
c.87149T= (p.Val29050=)
c.68912T= (p.Val22971=)
c.58766T= (p.Val19589=)
2g.178544212A>CCA349454869TTN,TTN-AS1c.88313T>G (p.Val29438Gly)
c.69398T>G (p.Val23133Gly)
c.69197T>G (p.Val23066Gly)
c.68822T>G (p.Val22941Gly)
c.96017T>G (p.Val32006Gly)
c.91094T>G (p.Val30365Gly)
n.446+20576A>C
n.2043+1851A>C
c.95114T>G (p.Val31705Gly)
c.69008T>G (p.Val23003Gly)
c.68867T>G (p.Val22956Gly)
c.94910T>G (p.Val31637Gly)
c.90308T>G (p.Val30103Gly)
c.90305T>G (p.Val30102Gly)
c.87347T>G (p.Val29116Gly)
c.68963T>G (p.Val22988Gly)
c.90458T>G (p.Val30153Gly)
c.90455T>G (p.Val30152Gly)
c.89888T>G (p.Val29963Gly)
c.87230T>G (p.Val29077Gly)
c.87149T>G (p.Val29050Gly)
c.68912T>G (p.Val22971Gly)
c.58766T>G (p.Val19589Gly)
2g.178544212A>GCA60970498TTN,TTN-AS1c.88313T>C (p.Val29438Ala)
c.69398T>C (p.Val23133Ala)
c.69197T>C (p.Val23066Ala)
c.68822T>C (p.Val22941Ala)
c.96017T>C (p.Val32006Ala)
c.91094T>C (p.Val30365Ala)
n.446+20576A>G
n.2043+1851A>G
c.95114T>C (p.Val31705Ala)
c.69008T>C (p.Val23003Ala)
c.68867T>C (p.Val22956Ala)
c.94910T>C (p.Val31637Ala)
c.90308T>C (p.Val30103Ala)
c.90305T>C (p.Val30102Ala)
c.87347T>C (p.Val29116Ala)
c.68963T>C (p.Val22988Ala)
c.90458T>C (p.Val30153Ala)
c.90455T>C (p.Val30152Ala)
c.89888T>C (p.Val29963Ala)
c.87230T>C (p.Val29077Ala)
c.87149T>C (p.Val29050Ala)
c.68912T>C (p.Val22971Ala)
c.58766T>C (p.Val19589Ala)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.178544212A>TCA349454870TTN,TTN-AS1c.88313T>A (p.Val29438Glu)
c.69398T>A (p.Val23133Glu)
c.69197T>A (p.Val23066Glu)
c.68822T>A (p.Val22941Glu)
c.96017T>A (p.Val32006Glu)
c.91094T>A (p.Val30365Glu)
n.446+20576A>T
n.2043+1851A>T
c.95114T>A (p.Val31705Glu)
c.69008T>A (p.Val23003Glu)
c.68867T>A (p.Val22956Glu)
c.94910T>A (p.Val31637Glu)
c.90308T>A (p.Val30103Glu)
c.90305T>A (p.Val30102Glu)
c.87347T>A (p.Val29116Glu)
c.68963T>A (p.Val22988Glu)
c.90458T>A (p.Val30153Glu)
c.90455T>A (p.Val30152Glu)
c.89888T>A (p.Val29963Glu)
c.87230T>A (p.Val29077Glu)
c.87149T>A (p.Val29050Glu)
c.68912T>A (p.Val22971Glu)
c.58766T>A (p.Val19589Glu)
2g.178544213C>ACA349454875TTN,TTN-AS1c.88312G>T (p.Val29438Leu)
c.69397G>T (p.Val23133Leu)
c.69196G>T (p.Val23066Leu)
c.68821G>T (p.Val22941Leu)
c.96016G>T (p.Val32006Leu)
c.91093G>T (p.Val30365Leu)
n.446+20577C>A
n.2043+1852C>A
c.95113G>T (p.Val31705Leu)
c.69007G>T (p.Val23003Leu)
c.68866G>T (p.Val22956Leu)
c.94909G>T (p.Val31637Leu)
c.90307G>T (p.Val30103Leu)
c.90304G>T (p.Val30102Leu)
c.87346G>T (p.Val29116Leu)
c.68962G>T (p.Val22988Leu)
c.90457G>T (p.Val30153Leu)
c.90454G>T (p.Val30152Leu)
c.89887G>T (p.Val29963Leu)
c.87229G>T (p.Val29077Leu)
c.87148G>T (p.Val29050Leu)
c.68911G>T (p.Val22971Leu)
c.58765G>T (p.Val19589Leu)
2g.178544213C=CA1310521421TTN,TTN-AS1c.88312G= (p.Val29438=)
c.69397G= (p.Val23133=)
c.69196G= (p.Val23066=)
c.68821G= (p.Val22941=)
c.96016G= (p.Val32006=)
c.91093G= (p.Val30365=)
n.446+20577C=
n.2043+1852C=
c.95113G= (p.Val31705=)
c.69007G= (p.Val23003=)
c.68866G= (p.Val22956=)
c.94909G= (p.Val31637=)
c.90307G= (p.Val30103=)
c.90304G= (p.Val30102=)
c.87346G= (p.Val29116=)
c.68962G= (p.Val22988=)
c.90457G= (p.Val30153=)
c.90454G= (p.Val30152=)
c.89887G= (p.Val29963=)
c.87229G= (p.Val29077=)
c.87148G= (p.Val29050=)
c.68911G= (p.Val22971=)
c.58765G= (p.Val19589=)
2g.178544213C>GCA349454903TTN,TTN-AS1c.88312G>C (p.Val29438Leu)
c.69397G>C (p.Val23133Leu)
c.69196G>C (p.Val23066Leu)
c.68821G>C (p.Val22941Leu)
c.96016G>C (p.Val32006Leu)
c.91093G>C (p.Val30365Leu)
n.446+20577C>G
n.2043+1852C>G
c.95113G>C (p.Val31705Leu)
c.69007G>C (p.Val23003Leu)
c.68866G>C (p.Val22956Leu)
c.94909G>C (p.Val31637Leu)
c.90307G>C (p.Val30103Leu)
c.90304G>C (p.Val30102Leu)
c.87346G>C (p.Val29116Leu)
c.68962G>C (p.Val22988Leu)
c.90457G>C (p.Val30153Leu)
c.90454G>C (p.Val30152Leu)
c.89887G>C (p.Val29963Leu)
c.87229G>C (p.Val29077Leu)
c.87148G>C (p.Val29050Leu)
c.68911G>C (p.Val22971Leu)
c.58765G>C (p.Val19589Leu)
2g.178544213C>TCA310995TTN,TTN-AS1c.88312G>A (p.Val29438Met)
c.69397G>A (p.Val23133Met)
c.69196G>A (p.Val23066Met)
c.68821G>A (p.Val22941Met)
c.96016G>A (p.Val32006Met)
c.91093G>A (p.Val30365Met)
n.446+20577C>T
n.2043+1852C>T
c.95113G>A (p.Val31705Met)
c.69007G>A (p.Val23003Met)
c.68866G>A (p.Val22956Met)
c.94909G>A (p.Val31637Met)
c.90307G>A (p.Val30103Met)
c.90304G>A (p.Val30102Met)
c.87346G>A (p.Val29116Met)
c.68962G>A (p.Val22988Met)
c.90457G>A (p.Val30153Met)
c.90454G>A (p.Val30152Met)
c.89887G>A (p.Val29963Met)
c.87229G>A (p.Val29077Met)
c.87148G>A (p.Val29050Met)
c.68911G>A (p.Val22971Met)
c.58765G>A (p.Val19589Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
2g.178544214G>ACA223989TTN,TTN-AS1c.88311C>T (p.Pro29437=)
c.69396C>T (p.Pro23132=)
c.69195C>T (p.Pro23065=)
c.68820C>T (p.Pro22940=)
c.96015C>T (p.Pro32005=)
c.91092C>T (p.Pro30364=)
n.446+20578G>A
n.2043+1853G>A
c.95112C>T (p.Pro31704=)
c.69006C>T (p.Pro23002=)
c.68865C>T (p.Pro22955=)
c.94908C>T (p.Pro31636=)
c.90306C>T (p.Pro30102=)
c.90303C>T (p.Pro30101=)
c.87345C>T (p.Pro29115=)
c.68961C>T (p.Pro22987=)
c.90456C>T (p.Pro30152=)
c.90453C>T (p.Pro30151=)
c.89886C>T (p.Pro29962=)
c.87228C>T (p.Pro29076=)
c.87147C>T (p.Pro29049=)
c.68910C>T (p.Pro22970=)
c.58764C>T (p.Pro19588=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178544214G>CCA430241640TTN,TTN-AS1c.88311C>G (p.Pro29437=)
c.69396C>G (p.Pro23132=)
c.69195C>G (p.Pro23065=)
c.68820C>G (p.Pro22940=)
c.96015C>G (p.Pro32005=)
c.91092C>G (p.Pro30364=)
n.446+20578G>C
n.2043+1853G>C
c.95112C>G (p.Pro31704=)
c.69006C>G (p.Pro23002=)
c.68865C>G (p.Pro22955=)
c.94908C>G (p.Pro31636=)
c.90306C>G (p.Pro30102=)
c.90303C>G (p.Pro30101=)
c.87345C>G (p.Pro29115=)
c.68961C>G (p.Pro22987=)
c.90456C>G (p.Pro30152=)
c.90453C>G (p.Pro30151=)
c.89886C>G (p.Pro29962=)
c.87228C>G (p.Pro29076=)
c.87147C>G (p.Pro29049=)
c.68910C>G (p.Pro22970=)
c.58764C>G (p.Pro19588=)
2g.178544214G=CA1310521424TTN,TTN-AS1c.88311C= (p.Pro29437=)
c.69396C= (p.Pro23132=)
c.69195C= (p.Pro23065=)
c.68820C= (p.Pro22940=)
c.96015C= (p.Pro32005=)
c.91092C= (p.Pro30364=)
n.446+20578G=
n.2043+1853G=
c.95112C= (p.Pro31704=)
c.69006C= (p.Pro23002=)
c.68865C= (p.Pro22955=)
c.94908C= (p.Pro31636=)
c.90306C= (p.Pro30102=)
c.90303C= (p.Pro30101=)
c.87345C= (p.Pro29115=)
c.68961C= (p.Pro22987=)
c.90456C= (p.Pro30152=)
c.90453C= (p.Pro30151=)
c.89886C= (p.Pro29962=)
c.87228C= (p.Pro29076=)
c.87147C= (p.Pro29049=)
c.68910C= (p.Pro22970=)
c.58764C= (p.Pro19588=)
2g.178544214G>TCA430241641TTN,TTN-AS1c.88311C>A (p.Pro29437=)
c.69396C>A (p.Pro23132=)
c.69195C>A (p.Pro23065=)
c.68820C>A (p.Pro22940=)
c.96015C>A (p.Pro32005=)
c.91092C>A (p.Pro30364=)
n.446+20578G>T
n.2043+1853G>T
c.95112C>A (p.Pro31704=)
c.69006C>A (p.Pro23002=)
c.68865C>A (p.Pro22955=)
c.94908C>A (p.Pro31636=)
c.90306C>A (p.Pro30102=)
c.90303C>A (p.Pro30101=)
c.87345C>A (p.Pro29115=)
c.68961C>A (p.Pro22987=)
c.90456C>A (p.Pro30152=)
c.90453C>A (p.Pro30151=)
c.89886C>A (p.Pro29962=)
c.87228C>A (p.Pro29076=)
c.87147C>A (p.Pro29049=)
c.68910C>A (p.Pro22970=)
c.58764C>A (p.Pro19588=)
2g.178544215G>ACA349454914TTN,TTN-AS1c.88310C>T (p.Pro29437Leu)
c.69395C>T (p.Pro23132Leu)
c.69194C>T (p.Pro23065Leu)
c.68819C>T (p.Pro22940Leu)
c.96014C>T (p.Pro32005Leu)
c.91091C>T (p.Pro30364Leu)
n.446+20579G>A
n.2043+1854G>A
c.95111C>T (p.Pro31704Leu)
c.69005C>T (p.Pro23002Leu)
c.68864C>T (p.Pro22955Leu)
c.94907C>T (p.Pro31636Leu)
c.90305C>T (p.Pro30102Leu)
c.90302C>T (p.Pro30101Leu)
c.87344C>T (p.Pro29115Leu)
c.68960C>T (p.Pro22987Leu)
c.90455C>T (p.Pro30152Leu)
c.90452C>T (p.Pro30151Leu)
c.89885C>T (p.Pro29962Leu)
c.87227C>T (p.Pro29076Leu)
c.87146C>T (p.Pro29049Leu)
c.68909C>T (p.Pro22970Leu)
c.58763C>T (p.Pro19588Leu)
2g.178544215G>CCA349454918TTN,TTN-AS1c.88310C>G (p.Pro29437Arg)
c.69395C>G (p.Pro23132Arg)
c.69194C>G (p.Pro23065Arg)
c.68819C>G (p.Pro22940Arg)
c.96014C>G (p.Pro32005Arg)
c.91091C>G (p.Pro30364Arg)
n.446+20579G>C
n.2043+1854G>C
c.95111C>G (p.Pro31704Arg)
c.69005C>G (p.Pro23002Arg)
c.68864C>G (p.Pro22955Arg)
c.94907C>G (p.Pro31636Arg)
c.90305C>G (p.Pro30102Arg)
c.90302C>G (p.Pro30101Arg)
c.87344C>G (p.Pro29115Arg)
c.68960C>G (p.Pro22987Arg)
c.90455C>G (p.Pro30152Arg)
c.90452C>G (p.Pro30151Arg)
c.89885C>G (p.Pro29962Arg)
c.87227C>G (p.Pro29076Arg)
c.87146C>G (p.Pro29049Arg)
c.68909C>G (p.Pro22970Arg)
c.58763C>G (p.Pro19588Arg)

Number of alleles fetched