Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.178545420_178545469delCA1986901TTN,TTN-AS1c.87941_87990del (p.Arg29314GlnfsTer29)
c.69026_69075del (p.Arg23009GlnfsTer29)
c.68825_68874del (p.Arg22942GlnfsTer29)
c.68450_68499del (p.Arg22817GlnfsTer29)
c.95645_95694del (p.Arg31882GlnfsTer29)
c.90722_90771del (p.Arg30241GlnfsTer29)
n.446+21784_446+21833del
n.2043+3059_2043+3108del
c.94742_94791del (p.Arg31581GlnfsTer29)
c.68636_68685del (p.Arg22879GlnfsTer29)
c.68495_68544del (p.Arg22832GlnfsTer29)
c.94538_94587del (p.Arg31513GlnfsTer29)
c.89936_89985del (p.Arg29979GlnfsTer29)
c.89933_89982del (p.Arg29978GlnfsTer29)
c.86975_87024del (p.Arg28992GlnfsTer29)
c.68591_68640del (p.Arg22864GlnfsTer29)
c.90086_90135del (p.Arg30029GlnfsTer29)
c.90083_90132del (p.Arg30028GlnfsTer29)
c.89516_89565del (p.Arg29839GlnfsTer29)
c.86858_86907del (p.Arg28953GlnfsTer29)
c.86777_86826del (p.Arg28926GlnfsTer29)
c.68540_68589del (p.Arg22847GlnfsTer29)
c.58394_58443del (p.Arg19465GlnfsTer29)
 dbSNP ExAC
2g.178545468A>CCA349459649TTN,TTN-AS1c.87938T>G (p.Phe29313Cys)
c.69023T>G (p.Phe23008Cys)
c.68822T>G (p.Phe22941Cys)
c.68447T>G (p.Phe22816Cys)
c.95642T>G (p.Phe31881Cys)
c.90719T>G (p.Phe30240Cys)
n.446+21832A>C
n.2043+3107A>C
c.94739T>G (p.Phe31580Cys)
c.68633T>G (p.Phe22878Cys)
c.68492T>G (p.Phe22831Cys)
c.94535T>G (p.Phe31512Cys)
c.89933T>G (p.Phe29978Cys)
c.89930T>G (p.Phe29977Cys)
c.86972T>G (p.Phe28991Cys)
c.68588T>G (p.Phe22863Cys)
c.90083T>G (p.Phe30028Cys)
c.90080T>G (p.Phe30027Cys)
c.89513T>G (p.Phe29838Cys)
c.86855T>G (p.Phe28952Cys)
c.86774T>G (p.Phe28925Cys)
c.68537T>G (p.Phe22846Cys)
c.58391T>G (p.Phe19464Cys)
2g.178545468A>GCA349459654TTN,TTN-AS1c.87938T>C (p.Phe29313Ser)
c.69023T>C (p.Phe23008Ser)
c.68822T>C (p.Phe22941Ser)
c.68447T>C (p.Phe22816Ser)
c.95642T>C (p.Phe31881Ser)
c.90719T>C (p.Phe30240Ser)
n.446+21832A>G
n.2043+3107A>G
c.94739T>C (p.Phe31580Ser)
c.68633T>C (p.Phe22878Ser)
c.68492T>C (p.Phe22831Ser)
c.94535T>C (p.Phe31512Ser)
c.89933T>C (p.Phe29978Ser)
c.89930T>C (p.Phe29977Ser)
c.86972T>C (p.Phe28991Ser)
c.68588T>C (p.Phe22863Ser)
c.90083T>C (p.Phe30028Ser)
c.90080T>C (p.Phe30027Ser)
c.89513T>C (p.Phe29838Ser)
c.86855T>C (p.Phe28952Ser)
c.86774T>C (p.Phe28925Ser)
c.68537T>C (p.Phe22846Ser)
c.58391T>C (p.Phe19464Ser)
2g.178545468A>TCA349459646TTN,TTN-AS1c.87938T>A (p.Phe29313Tyr)
c.69023T>A (p.Phe23008Tyr)
c.68822T>A (p.Phe22941Tyr)
c.68447T>A (p.Phe22816Tyr)
c.95642T>A (p.Phe31881Tyr)
c.90719T>A (p.Phe30240Tyr)
n.446+21832A>T
n.2043+3107A>T
c.94739T>A (p.Phe31580Tyr)
c.68633T>A (p.Phe22878Tyr)
c.68492T>A (p.Phe22831Tyr)
c.94535T>A (p.Phe31512Tyr)
c.89933T>A (p.Phe29978Tyr)
c.89930T>A (p.Phe29977Tyr)
c.86972T>A (p.Phe28991Tyr)
c.68588T>A (p.Phe22863Tyr)
c.90083T>A (p.Phe30028Tyr)
c.90080T>A (p.Phe30027Tyr)
c.89513T>A (p.Phe29838Tyr)
c.86855T>A (p.Phe28952Tyr)
c.86774T>A (p.Phe28925Tyr)
c.68537T>A (p.Phe22846Tyr)
c.58391T>A (p.Phe19464Tyr)
2g.178545469A>CCA349459656TTN,TTN-AS1c.87937T>G (p.Phe29313Val)
c.69022T>G (p.Phe23008Val)
c.68821T>G (p.Phe22941Val)
c.68446T>G (p.Phe22816Val)
c.95641T>G (p.Phe31881Val)
c.90718T>G (p.Phe30240Val)
n.446+21833A>C
n.2043+3108A>C
c.94738T>G (p.Phe31580Val)
c.68632T>G (p.Phe22878Val)
c.68491T>G (p.Phe22831Val)
c.94534T>G (p.Phe31512Val)
c.89932T>G (p.Phe29978Val)
c.89929T>G (p.Phe29977Val)
c.86971T>G (p.Phe28991Val)
c.68587T>G (p.Phe22863Val)
c.90082T>G (p.Phe30028Val)
c.90079T>G (p.Phe30027Val)
c.89512T>G (p.Phe29838Val)
c.86854T>G (p.Phe28952Val)
c.86773T>G (p.Phe28925Val)
c.68536T>G (p.Phe22846Val)
c.58390T>G (p.Phe19464Val)
2g.178545469A>GCA349459658TTN,TTN-AS1c.87937T>C (p.Phe29313Leu)
c.69022T>C (p.Phe23008Leu)
c.68821T>C (p.Phe22941Leu)
c.68446T>C (p.Phe22816Leu)
c.95641T>C (p.Phe31881Leu)
c.90718T>C (p.Phe30240Leu)
n.446+21833A>G
n.2043+3108A>G
c.94738T>C (p.Phe31580Leu)
c.68632T>C (p.Phe22878Leu)
c.68491T>C (p.Phe22831Leu)
c.94534T>C (p.Phe31512Leu)
c.89932T>C (p.Phe29978Leu)
c.89929T>C (p.Phe29977Leu)
c.86971T>C (p.Phe28991Leu)
c.68587T>C (p.Phe22863Leu)
c.90082T>C (p.Phe30028Leu)
c.90079T>C (p.Phe30027Leu)
c.89512T>C (p.Phe29838Leu)
c.86854T>C (p.Phe28952Leu)
c.86773T>C (p.Phe28925Leu)
c.68536T>C (p.Phe22846Leu)
c.58390T>C (p.Phe19464Leu)
 gnomAD v4
2g.178545469A>TCA349459659TTN,TTN-AS1c.87937T>A (p.Phe29313Ile)
c.69022T>A (p.Phe23008Ile)
c.68821T>A (p.Phe22941Ile)
c.68446T>A (p.Phe22816Ile)
c.95641T>A (p.Phe31881Ile)
c.90718T>A (p.Phe30240Ile)
n.446+21833A>T
n.2043+3108A>T
c.94738T>A (p.Phe31580Ile)
c.68632T>A (p.Phe22878Ile)
c.68491T>A (p.Phe22831Ile)
c.94534T>A (p.Phe31512Ile)
c.89932T>A (p.Phe29978Ile)
c.89929T>A (p.Phe29977Ile)
c.86971T>A (p.Phe28991Ile)
c.68587T>A (p.Phe22863Ile)
c.90082T>A (p.Phe30028Ile)
c.90079T>A (p.Phe30027Ile)
c.89512T>A (p.Phe29838Ile)
c.86854T>A (p.Phe28952Ile)
c.86773T>A (p.Phe28925Ile)
c.68536T>A (p.Phe22846Ile)
c.58390T>A (p.Phe19464Ile)
 gnomAD v4
2g.178545469_178545470insTGCAGCA2753331574TTN,TTN-AS1c.87936_87937insCTGCA (p.Phe29313LeufsTer5)
c.69021_69022insCTGCA (p.Phe23008LeufsTer5)
c.68820_68821insCTGCA (p.Phe22941LeufsTer5)
c.68445_68446insCTGCA (p.Phe22816LeufsTer5)
c.95640_95641insCTGCA (p.Phe31881LeufsTer5)
c.90717_90718insCTGCA (p.Phe30240LeufsTer5)
n.446+21833_446+21834insTGCAG
n.2043+3108_2043+3109insTGCAG
c.94737_94738insCTGCA (p.Phe31580LeufsTer5)
c.68631_68632insCTGCA (p.Phe22878LeufsTer5)
c.68490_68491insCTGCA (p.Phe22831LeufsTer5)
c.94533_94534insCTGCA (p.Phe31512LeufsTer5)
c.89931_89932insCTGCA (p.Phe29978LeufsTer5)
c.89928_89929insCTGCA (p.Phe29977LeufsTer5)
c.86970_86971insCTGCA (p.Phe28991LeufsTer5)
c.68586_68587insCTGCA (p.Phe22863LeufsTer5)
c.90081_90082insCTGCA (p.Phe30028LeufsTer5)
c.90078_90079insCTGCA (p.Phe30027LeufsTer5)
c.89511_89512insCTGCA (p.Phe29838LeufsTer5)
c.86853_86854insCTGCA (p.Phe28952LeufsTer5)
c.86772_86773insCTGCA (p.Phe28925LeufsTer5)
c.68535_68536insCTGCA (p.Phe22846LeufsTer5)
c.58389_58390insCTGCA (p.Phe19464LeufsTer5)
2g.178545470C>ACA349459662TTN,TTN-AS1c.87936G>T (p.Gln29312His)
c.69021G>T (p.Gln23007His)
c.68820G>T (p.Gln22940His)
c.68445G>T (p.Gln22815His)
c.95640G>T (p.Gln31880His)
c.90717G>T (p.Gln30239His)
n.446+21834C>A
n.2043+3109C>A
c.94737G>T (p.Gln31579His)
c.68631G>T (p.Gln22877His)
c.68490G>T (p.Gln22830His)
c.94533G>T (p.Gln31511His)
c.89931G>T (p.Gln29977His)
c.89928G>T (p.Gln29976His)
c.86970G>T (p.Gln28990His)
c.68586G>T (p.Gln22862His)
c.90081G>T (p.Gln30027His)
c.90078G>T (p.Gln30026His)
c.89511G>T (p.Gln29837His)
c.86853G>T (p.Gln28951His)
c.86772G>T (p.Gln28924His)
c.68535G>T (p.Gln22845His)
c.58389G>T (p.Gln19463His)
2g.178545470C>GCA349459666TTN,TTN-AS1c.87936G>C (p.Gln29312His)
c.69021G>C (p.Gln23007His)
c.68820G>C (p.Gln22940His)
c.68445G>C (p.Gln22815His)
c.95640G>C (p.Gln31880His)
c.90717G>C (p.Gln30239His)
n.446+21834C>G
n.2043+3109C>G
c.94737G>C (p.Gln31579His)
c.68631G>C (p.Gln22877His)
c.68490G>C (p.Gln22830His)
c.94533G>C (p.Gln31511His)
c.89931G>C (p.Gln29977His)
c.89928G>C (p.Gln29976His)
c.86970G>C (p.Gln28990His)
c.68586G>C (p.Gln22862His)
c.90081G>C (p.Gln30027His)
c.90078G>C (p.Gln30026His)
c.89511G>C (p.Gln29837His)
c.86853G>C (p.Gln28951His)
c.86772G>C (p.Gln28924His)
c.68535G>C (p.Gln22845His)
c.58389G>C (p.Gln19463His)
2g.178545470C>TCA430101472TTN,TTN-AS1c.87936G>A (p.Gln29312=)
c.69021G>A (p.Gln23007=)
c.68820G>A (p.Gln22940=)
c.68445G>A (p.Gln22815=)
c.95640G>A (p.Gln31880=)
c.90717G>A (p.Gln30239=)
n.446+21834C>T
n.2043+3109C>T
c.94737G>A (p.Gln31579=)
c.68631G>A (p.Gln22877=)
c.68490G>A (p.Gln22830=)
c.94533G>A (p.Gln31511=)
c.89931G>A (p.Gln29977=)
c.89928G>A (p.Gln29976=)
c.86970G>A (p.Gln28990=)
c.68586G>A (p.Gln22862=)
c.90081G>A (p.Gln30027=)
c.90078G>A (p.Gln30026=)
c.89511G>A (p.Gln29837=)
c.86853G>A (p.Gln28951=)
c.86772G>A (p.Gln28924=)
c.68535G>A (p.Gln22845=)
c.58389G>A (p.Gln19463=)
2g.178545471T>ACA349459690TTN,TTN-AS1c.87935A>T (p.Gln29312Leu)
c.69020A>T (p.Gln23007Leu)
c.68819A>T (p.Gln22940Leu)
c.68444A>T (p.Gln22815Leu)
c.95639A>T (p.Gln31880Leu)
c.90716A>T (p.Gln30239Leu)
n.446+21835T>A
n.2043+3110T>A
c.94736A>T (p.Gln31579Leu)
c.68630A>T (p.Gln22877Leu)
c.68489A>T (p.Gln22830Leu)
c.94532A>T (p.Gln31511Leu)
c.89930A>T (p.Gln29977Leu)
c.89927A>T (p.Gln29976Leu)
c.86969A>T (p.Gln28990Leu)
c.68585A>T (p.Gln22862Leu)
c.90080A>T (p.Gln30027Leu)
c.90077A>T (p.Gln30026Leu)
c.89510A>T (p.Gln29837Leu)
c.86852A>T (p.Gln28951Leu)
c.86771A>T (p.Gln28924Leu)
c.68534A>T (p.Gln22845Leu)
c.58388A>T (p.Gln19463Leu)
2g.178545471T>CCA349459670TTN,TTN-AS1c.87935A>G (p.Gln29312Arg)
c.69020A>G (p.Gln23007Arg)
c.68819A>G (p.Gln22940Arg)
c.68444A>G (p.Gln22815Arg)
c.95639A>G (p.Gln31880Arg)
c.90716A>G (p.Gln30239Arg)
n.446+21835T>C
n.2043+3110T>C
c.94736A>G (p.Gln31579Arg)
c.68630A>G (p.Gln22877Arg)
c.68489A>G (p.Gln22830Arg)
c.94532A>G (p.Gln31511Arg)
c.89930A>G (p.Gln29977Arg)
c.89927A>G (p.Gln29976Arg)
c.86969A>G (p.Gln28990Arg)
c.68585A>G (p.Gln22862Arg)
c.90080A>G (p.Gln30027Arg)
c.90077A>G (p.Gln30026Arg)
c.89510A>G (p.Gln29837Arg)
c.86852A>G (p.Gln28951Arg)
c.86771A>G (p.Gln28924Arg)
c.68534A>G (p.Gln22845Arg)
c.58388A>G (p.Gln19463Arg)
2g.178545471T>GCA349459686TTN,TTN-AS1c.87935A>C (p.Gln29312Pro)
c.69020A>C (p.Gln23007Pro)
c.68819A>C (p.Gln22940Pro)
c.68444A>C (p.Gln22815Pro)
c.95639A>C (p.Gln31880Pro)
c.90716A>C (p.Gln30239Pro)
n.446+21835T>G
n.2043+3110T>G
c.94736A>C (p.Gln31579Pro)
c.68630A>C (p.Gln22877Pro)
c.68489A>C (p.Gln22830Pro)
c.94532A>C (p.Gln31511Pro)
c.89930A>C (p.Gln29977Pro)
c.89927A>C (p.Gln29976Pro)
c.86969A>C (p.Gln28990Pro)
c.68585A>C (p.Gln22862Pro)
c.90080A>C (p.Gln30027Pro)
c.90077A>C (p.Gln30026Pro)
c.89510A>C (p.Gln29837Pro)
c.86852A>C (p.Gln28951Pro)
c.86771A>C (p.Gln28924Pro)
c.68534A>C (p.Gln22845Pro)
c.58388A>C (p.Gln19463Pro)
2g.178545472G>ACA349459693TTN,TTN-AS1c.87934C>T (p.Gln29312Ter)
c.69019C>T (p.Gln23007Ter)
c.68818C>T (p.Gln22940Ter)
c.68443C>T (p.Gln22815Ter)
c.95638C>T (p.Gln31880Ter)
c.90715C>T (p.Gln30239Ter)
n.446+21836G>A
n.2043+3111G>A
c.94735C>T (p.Gln31579Ter)
c.68629C>T (p.Gln22877Ter)
c.68488C>T (p.Gln22830Ter)
c.94531C>T (p.Gln31511Ter)
c.89929C>T (p.Gln29977Ter)
c.89926C>T (p.Gln29976Ter)
c.86968C>T (p.Gln28990Ter)
c.68584C>T (p.Gln22862Ter)
c.90079C>T (p.Gln30027Ter)
c.90076C>T (p.Gln30026Ter)
c.89509C>T (p.Gln29837Ter)
c.86851C>T (p.Gln28951Ter)
c.86770C>T (p.Gln28924Ter)
c.68533C>T (p.Gln22845Ter)
c.58387C>T (p.Gln19463Ter)
2g.178545472G>CCA349459694TTN,TTN-AS1c.87934C>G (p.Gln29312Glu)
c.69019C>G (p.Gln23007Glu)
c.68818C>G (p.Gln22940Glu)
c.68443C>G (p.Gln22815Glu)
c.95638C>G (p.Gln31880Glu)
c.90715C>G (p.Gln30239Glu)
n.446+21836G>C
n.2043+3111G>C
c.94735C>G (p.Gln31579Glu)
c.68629C>G (p.Gln22877Glu)
c.68488C>G (p.Gln22830Glu)
c.94531C>G (p.Gln31511Glu)
c.89929C>G (p.Gln29977Glu)
c.89926C>G (p.Gln29976Glu)
c.86968C>G (p.Gln28990Glu)
c.68584C>G (p.Gln22862Glu)
c.90079C>G (p.Gln30027Glu)
c.90076C>G (p.Gln30026Glu)
c.89509C>G (p.Gln29837Glu)
c.86851C>G (p.Gln28951Glu)
c.86770C>G (p.Gln28924Glu)
c.68533C>G (p.Gln22845Glu)
c.58387C>G (p.Gln19463Glu)
2g.178545472G>TCA349459695TTN,TTN-AS1c.87934C>A (p.Gln29312Lys)
c.69019C>A (p.Gln23007Lys)
c.68818C>A (p.Gln22940Lys)
c.68443C>A (p.Gln22815Lys)
c.95638C>A (p.Gln31880Lys)
c.90715C>A (p.Gln30239Lys)
n.446+21836G>T
n.2043+3111G>T
c.94735C>A (p.Gln31579Lys)
c.68629C>A (p.Gln22877Lys)
c.68488C>A (p.Gln22830Lys)
c.94531C>A (p.Gln31511Lys)
c.89929C>A (p.Gln29977Lys)
c.89926C>A (p.Gln29976Lys)
c.86968C>A (p.Gln28990Lys)
c.68584C>A (p.Gln22862Lys)
c.90079C>A (p.Gln30027Lys)
c.90076C>A (p.Gln30026Lys)
c.89509C>A (p.Gln29837Lys)
c.86851C>A (p.Gln28951Lys)
c.86770C>A (p.Gln28924Lys)
c.68533C>A (p.Gln22845Lys)
c.58387C>A (p.Gln19463Lys)
2g.178545473G>ACA430101476TTN,TTN-AS1c.87933C>T (p.Tyr29311=)
c.69018C>T (p.Tyr23006=)
c.68817C>T (p.Tyr22939=)
c.68442C>T (p.Tyr22814=)
c.95637C>T (p.Tyr31879=)
c.90714C>T (p.Tyr30238=)
n.446+21837G>A
n.2043+3112G>A
c.94734C>T (p.Tyr31578=)
c.68628C>T (p.Tyr22876=)
c.68487C>T (p.Tyr22829=)
c.94530C>T (p.Tyr31510=)
c.89928C>T (p.Tyr29976=)
c.89925C>T (p.Tyr29975=)
c.86967C>T (p.Tyr28989=)
c.68583C>T (p.Tyr22861=)
c.90078C>T (p.Tyr30026=)
c.90075C>T (p.Tyr30025=)
c.89508C>T (p.Tyr29836=)
c.86850C>T (p.Tyr28950=)
c.86769C>T (p.Tyr28923=)
c.68532C>T (p.Tyr22844=)
c.58386C>T (p.Tyr19462=)
2g.178545473G>CCA349459697TTN,TTN-AS1c.87933C>G (p.Tyr29311Ter)
c.69018C>G (p.Tyr23006Ter)
c.68817C>G (p.Tyr22939Ter)
c.68442C>G (p.Tyr22814Ter)
c.95637C>G (p.Tyr31879Ter)
c.90714C>G (p.Tyr30238Ter)
n.446+21837G>C
n.2043+3112G>C
c.94734C>G (p.Tyr31578Ter)
c.68628C>G (p.Tyr22876Ter)
c.68487C>G (p.Tyr22829Ter)
c.94530C>G (p.Tyr31510Ter)
c.89928C>G (p.Tyr29976Ter)
c.89925C>G (p.Tyr29975Ter)
c.86967C>G (p.Tyr28989Ter)
c.68583C>G (p.Tyr22861Ter)
c.90078C>G (p.Tyr30026Ter)
c.90075C>G (p.Tyr30025Ter)
c.89508C>G (p.Tyr29836Ter)
c.86850C>G (p.Tyr28950Ter)
c.86769C>G (p.Tyr28923Ter)
c.68532C>G (p.Tyr22844Ter)
c.58386C>G (p.Tyr19462Ter)
2g.178545473G>TCA349459699TTN,TTN-AS1c.87933C>A (p.Tyr29311Ter)
c.69018C>A (p.Tyr23006Ter)
c.68817C>A (p.Tyr22939Ter)
c.68442C>A (p.Tyr22814Ter)
c.95637C>A (p.Tyr31879Ter)
c.90714C>A (p.Tyr30238Ter)
n.446+21837G>T
n.2043+3112G>T
c.94734C>A (p.Tyr31578Ter)
c.68628C>A (p.Tyr22876Ter)
c.68487C>A (p.Tyr22829Ter)
c.94530C>A (p.Tyr31510Ter)
c.89928C>A (p.Tyr29976Ter)
c.89925C>A (p.Tyr29975Ter)
c.86967C>A (p.Tyr28989Ter)
c.68583C>A (p.Tyr22861Ter)
c.90078C>A (p.Tyr30026Ter)
c.90075C>A (p.Tyr30025Ter)
c.89508C>A (p.Tyr29836Ter)
c.86850C>A (p.Tyr28950Ter)
c.86769C>A (p.Tyr28923Ter)
c.68532C>A (p.Tyr22844Ter)
c.58386C>A (p.Tyr19462Ter)
2g.178545474T>ACA349459705TTN,TTN-AS1c.87932A>T (p.Tyr29311Phe)
c.69017A>T (p.Tyr23006Phe)
c.68816A>T (p.Tyr22939Phe)
c.68441A>T (p.Tyr22814Phe)
c.95636A>T (p.Tyr31879Phe)
c.90713A>T (p.Tyr30238Phe)
n.446+21838T>A
n.2043+3113T>A
c.94733A>T (p.Tyr31578Phe)
c.68627A>T (p.Tyr22876Phe)
c.68486A>T (p.Tyr22829Phe)
c.94529A>T (p.Tyr31510Phe)
c.89927A>T (p.Tyr29976Phe)
c.89924A>T (p.Tyr29975Phe)
c.86966A>T (p.Tyr28989Phe)
c.68582A>T (p.Tyr22861Phe)
c.90077A>T (p.Tyr30026Phe)
c.90074A>T (p.Tyr30025Phe)
c.89507A>T (p.Tyr29836Phe)
c.86849A>T (p.Tyr28950Phe)
c.86768A>T (p.Tyr28923Phe)
c.68531A>T (p.Tyr22844Phe)
c.58385A>T (p.Tyr19462Phe)
2g.178545474T>CCA349459702TTN,TTN-AS1c.87932A>G (p.Tyr29311Cys)
c.69017A>G (p.Tyr23006Cys)
c.68816A>G (p.Tyr22939Cys)
c.68441A>G (p.Tyr22814Cys)
c.95636A>G (p.Tyr31879Cys)
c.90713A>G (p.Tyr30238Cys)
n.446+21838T>C
n.2043+3113T>C
c.94733A>G (p.Tyr31578Cys)
c.68627A>G (p.Tyr22876Cys)
c.68486A>G (p.Tyr22829Cys)
c.94529A>G (p.Tyr31510Cys)
c.89927A>G (p.Tyr29976Cys)
c.89924A>G (p.Tyr29975Cys)
c.86966A>G (p.Tyr28989Cys)
c.68582A>G (p.Tyr22861Cys)
c.90077A>G (p.Tyr30026Cys)
c.90074A>G (p.Tyr30025Cys)
c.89507A>G (p.Tyr29836Cys)
c.86849A>G (p.Tyr28950Cys)
c.86768A>G (p.Tyr28923Cys)
c.68531A>G (p.Tyr22844Cys)
c.58385A>G (p.Tyr19462Cys)
2g.178545474T>GCA349459700TTN,TTN-AS1c.87932A>C (p.Tyr29311Ser)
c.69017A>C (p.Tyr23006Ser)
c.68816A>C (p.Tyr22939Ser)
c.68441A>C (p.Tyr22814Ser)
c.95636A>C (p.Tyr31879Ser)
c.90713A>C (p.Tyr30238Ser)
n.446+21838T>G
n.2043+3113T>G
c.94733A>C (p.Tyr31578Ser)
c.68627A>C (p.Tyr22876Ser)
c.68486A>C (p.Tyr22829Ser)
c.94529A>C (p.Tyr31510Ser)
c.89927A>C (p.Tyr29976Ser)
c.89924A>C (p.Tyr29975Ser)
c.86966A>C (p.Tyr28989Ser)
c.68582A>C (p.Tyr22861Ser)
c.90077A>C (p.Tyr30026Ser)
c.90074A>C (p.Tyr30025Ser)
c.89507A>C (p.Tyr29836Ser)
c.86849A>C (p.Tyr28950Ser)
c.86768A>C (p.Tyr28923Ser)
c.68531A>C (p.Tyr22844Ser)
c.58385A>C (p.Tyr19462Ser)
2g.178545475A>CCA349459709TTN,TTN-AS1c.87931T>G (p.Tyr29311Asp)
c.69016T>G (p.Tyr23006Asp)
c.68815T>G (p.Tyr22939Asp)
c.68440T>G (p.Tyr22814Asp)
c.95635T>G (p.Tyr31879Asp)
c.90712T>G (p.Tyr30238Asp)
n.446+21839A>C
n.2043+3114A>C
c.94732T>G (p.Tyr31578Asp)
c.68626T>G (p.Tyr22876Asp)
c.68485T>G (p.Tyr22829Asp)
c.94528T>G (p.Tyr31510Asp)
c.89926T>G (p.Tyr29976Asp)
c.89923T>G (p.Tyr29975Asp)
c.86965T>G (p.Tyr28989Asp)
c.68581T>G (p.Tyr22861Asp)
c.90076T>G (p.Tyr30026Asp)
c.90073T>G (p.Tyr30025Asp)
c.89506T>G (p.Tyr29836Asp)
c.86848T>G (p.Tyr28950Asp)
c.86767T>G (p.Tyr28923Asp)
c.68530T>G (p.Tyr22844Asp)
c.58384T>G (p.Tyr19462Asp)
2g.178545475A>GCA349459731TTN,TTN-AS1c.87931T>C (p.Tyr29311His)
c.69016T>C (p.Tyr23006His)
c.68815T>C (p.Tyr22939His)
c.68440T>C (p.Tyr22814His)
c.95635T>C (p.Tyr31879His)
c.90712T>C (p.Tyr30238His)
n.446+21839A>G
n.2043+3114A>G
c.94732T>C (p.Tyr31578His)
c.68626T>C (p.Tyr22876His)
c.68485T>C (p.Tyr22829His)
c.94528T>C (p.Tyr31510His)
c.89926T>C (p.Tyr29976His)
c.89923T>C (p.Tyr29975His)
c.86965T>C (p.Tyr28989His)
c.68581T>C (p.Tyr22861His)
c.90076T>C (p.Tyr30026His)
c.90073T>C (p.Tyr30025His)
c.89506T>C (p.Tyr29836His)
c.86848T>C (p.Tyr28950His)
c.86767T>C (p.Tyr28923His)
c.68530T>C (p.Tyr22844His)
c.58384T>C (p.Tyr19462His)
2g.178545475A>TCA349459718TTN,TTN-AS1c.87931T>A (p.Tyr29311Asn)
c.69016T>A (p.Tyr23006Asn)
c.68815T>A (p.Tyr22939Asn)
c.68440T>A (p.Tyr22814Asn)
c.95635T>A (p.Tyr31879Asn)
c.90712T>A (p.Tyr30238Asn)
n.446+21839A>T
n.2043+3114A>T
c.94732T>A (p.Tyr31578Asn)
c.68626T>A (p.Tyr22876Asn)
c.68485T>A (p.Tyr22829Asn)
c.94528T>A (p.Tyr31510Asn)
c.89926T>A (p.Tyr29976Asn)
c.89923T>A (p.Tyr29975Asn)
c.86965T>A (p.Tyr28989Asn)
c.68581T>A (p.Tyr22861Asn)
c.90076T>A (p.Tyr30026Asn)
c.90073T>A (p.Tyr30025Asn)
c.89506T>A (p.Tyr29836Asn)
c.86848T>A (p.Tyr28950Asn)
c.86767T>A (p.Tyr28923Asn)
c.68530T>A (p.Tyr22844Asn)
c.58384T>A (p.Tyr19462Asn)
2g.178545476A=CA1310522180TTN,TTN-AS1c.87930T= (p.Asp29310=)
c.69015T= (p.Asp23005=)
c.68814T= (p.Asp22938=)
c.68439T= (p.Asp22813=)
c.95634T= (p.Asp31878=)
c.90711T= (p.Asp30237=)
n.446+21840A=
n.2043+3115A=
c.94731T= (p.Asp31577=)
c.68625T= (p.Asp22875=)
c.68484T= (p.Asp22828=)
c.94527T= (p.Asp31509=)
c.89925T= (p.Asp29975=)
c.89922T= (p.Asp29974=)
c.86964T= (p.Asp28988=)
c.68580T= (p.Asp22860=)
c.90075T= (p.Asp30025=)
c.90072T= (p.Asp30024=)
c.89505T= (p.Asp29835=)
c.86847T= (p.Asp28949=)
c.86766T= (p.Asp28922=)
c.68529T= (p.Asp22843=)
c.58383T= (p.Asp19461=)
2g.178545476A>CCA349459743TTN,TTN-AS1c.87930T>G (p.Asp29310Glu)
c.69015T>G (p.Asp23005Glu)
c.68814T>G (p.Asp22938Glu)
c.68439T>G (p.Asp22813Glu)
c.95634T>G (p.Asp31878Glu)
c.90711T>G (p.Asp30237Glu)
n.446+21840A>C
n.2043+3115A>C
c.94731T>G (p.Asp31577Glu)
c.68625T>G (p.Asp22875Glu)
c.68484T>G (p.Asp22828Glu)
c.94527T>G (p.Asp31509Glu)
c.89925T>G (p.Asp29975Glu)
c.89922T>G (p.Asp29974Glu)
c.86964T>G (p.Asp28988Glu)
c.68580T>G (p.Asp22860Glu)
c.90075T>G (p.Asp30025Glu)
c.90072T>G (p.Asp30024Glu)
c.89505T>G (p.Asp29835Glu)
c.86847T>G (p.Asp28949Glu)
c.86766T>G (p.Asp28922Glu)
c.68529T>G (p.Asp22843Glu)
c.58383T>G (p.Asp19461Glu)
2g.178545476A>GCA430101480TTN,TTN-AS1c.87930T>C (p.Asp29310=)
c.69015T>C (p.Asp23005=)
c.68814T>C (p.Asp22938=)
c.68439T>C (p.Asp22813=)
c.95634T>C (p.Asp31878=)
c.90711T>C (p.Asp30237=)
n.446+21840A>G
n.2043+3115A>G
c.94731T>C (p.Asp31577=)
c.68625T>C (p.Asp22875=)
c.68484T>C (p.Asp22828=)
c.94527T>C (p.Asp31509=)
c.89925T>C (p.Asp29975=)
c.89922T>C (p.Asp29974=)
c.86964T>C (p.Asp28988=)
c.68580T>C (p.Asp22860=)
c.90075T>C (p.Asp30025=)
c.90072T>C (p.Asp30024=)
c.89505T>C (p.Asp29835=)
c.86847T>C (p.Asp28949=)
c.86766T>C (p.Asp28922=)
c.68529T>C (p.Asp22843=)
c.58383T>C (p.Asp19461=)
 dbSNP gnomAD v2 gnomAD v4
2g.178545476A>TCA349459746TTN,TTN-AS1c.87930T>A (p.Asp29310Glu)
c.69015T>A (p.Asp23005Glu)
c.68814T>A (p.Asp22938Glu)
c.68439T>A (p.Asp22813Glu)
c.95634T>A (p.Asp31878Glu)
c.90711T>A (p.Asp30237Glu)
n.446+21840A>T
n.2043+3115A>T
c.94731T>A (p.Asp31577Glu)
c.68625T>A (p.Asp22875Glu)
c.68484T>A (p.Asp22828Glu)
c.94527T>A (p.Asp31509Glu)
c.89925T>A (p.Asp29975Glu)
c.89922T>A (p.Asp29974Glu)
c.86964T>A (p.Asp28988Glu)
c.68580T>A (p.Asp22860Glu)
c.90075T>A (p.Asp30025Glu)
c.90072T>A (p.Asp30024Glu)
c.89505T>A (p.Asp29835Glu)
c.86847T>A (p.Asp28949Glu)
c.86766T>A (p.Asp28922Glu)
c.68529T>A (p.Asp22843Glu)
c.58383T>A (p.Asp19461Glu)
2g.178545477T>ACA349459750TTN,TTN-AS1c.87929A>T (p.Asp29310Val)
c.69014A>T (p.Asp23005Val)
c.68813A>T (p.Asp22938Val)
c.68438A>T (p.Asp22813Val)
c.95633A>T (p.Asp31878Val)
c.90710A>T (p.Asp30237Val)
n.446+21841T>A
n.2043+3116T>A
c.94730A>T (p.Asp31577Val)
c.68624A>T (p.Asp22875Val)
c.68483A>T (p.Asp22828Val)
c.94526A>T (p.Asp31509Val)
c.89924A>T (p.Asp29975Val)
c.89921A>T (p.Asp29974Val)
c.86963A>T (p.Asp28988Val)
c.68579A>T (p.Asp22860Val)
c.90074A>T (p.Asp30025Val)
c.90071A>T (p.Asp30024Val)
c.89504A>T (p.Asp29835Val)
c.86846A>T (p.Asp28949Val)
c.86765A>T (p.Asp28922Val)
c.68528A>T (p.Asp22843Val)
c.58382A>T (p.Asp19461Val)
 dbSNP
2g.178545477T>CCA349459753TTN,TTN-AS1c.87929A>G (p.Asp29310Gly)
c.69014A>G (p.Asp23005Gly)
c.68813A>G (p.Asp22938Gly)
c.68438A>G (p.Asp22813Gly)
c.95633A>G (p.Asp31878Gly)
c.90710A>G (p.Asp30237Gly)
n.446+21841T>C
n.2043+3116T>C
c.94730A>G (p.Asp31577Gly)
c.68624A>G (p.Asp22875Gly)
c.68483A>G (p.Asp22828Gly)
c.94526A>G (p.Asp31509Gly)
c.89924A>G (p.Asp29975Gly)
c.89921A>G (p.Asp29974Gly)
c.86963A>G (p.Asp28988Gly)
c.68579A>G (p.Asp22860Gly)
c.90074A>G (p.Asp30025Gly)
c.90071A>G (p.Asp30024Gly)
c.89504A>G (p.Asp29835Gly)
c.86846A>G (p.Asp28949Gly)
c.86765A>G (p.Asp28922Gly)
c.68528A>G (p.Asp22843Gly)
c.58382A>G (p.Asp19461Gly)
 dbSNP
2g.178545477T>GCA349459755TTN,TTN-AS1c.87929A>C (p.Asp29310Ala)
c.69014A>C (p.Asp23005Ala)
c.68813A>C (p.Asp22938Ala)
c.68438A>C (p.Asp22813Ala)
c.95633A>C (p.Asp31878Ala)
c.90710A>C (p.Asp30237Ala)
n.446+21841T>G
n.2043+3116T>G
c.94730A>C (p.Asp31577Ala)
c.68624A>C (p.Asp22875Ala)
c.68483A>C (p.Asp22828Ala)
c.94526A>C (p.Asp31509Ala)
c.89924A>C (p.Asp29975Ala)
c.89921A>C (p.Asp29974Ala)
c.86963A>C (p.Asp28988Ala)
c.68579A>C (p.Asp22860Ala)
c.90074A>C (p.Asp30025Ala)
c.90071A>C (p.Asp30024Ala)
c.89504A>C (p.Asp29835Ala)
c.86846A>C (p.Asp28949Ala)
c.86765A>C (p.Asp28922Ala)
c.68528A>C (p.Asp22843Ala)
c.58382A>C (p.Asp19461Ala)
2g.178545477T=CA1310522181TTN,TTN-AS1c.87929A= (p.Asp29310=)
c.69014A= (p.Asp23005=)
c.68813A= (p.Asp22938=)
c.68438A= (p.Asp22813=)
c.95633A= (p.Asp31878=)
c.90710A= (p.Asp30237=)
n.446+21841T=
n.2043+3116T=
c.94730A= (p.Asp31577=)
c.68624A= (p.Asp22875=)
c.68483A= (p.Asp22828=)
c.94526A= (p.Asp31509=)
c.89924A= (p.Asp29975=)
c.89921A= (p.Asp29974=)
c.86963A= (p.Asp28988=)
c.68579A= (p.Asp22860=)
c.90074A= (p.Asp30025=)
c.90071A= (p.Asp30024=)
c.89504A= (p.Asp29835=)
c.86846A= (p.Asp28949=)
c.86765A= (p.Asp28922=)
c.68528A= (p.Asp22843=)
c.58382A= (p.Asp19461=)
2g.178545478C>ACA349459757TTN,TTN-AS1c.87928G>T (p.Asp29310Tyr)
c.69013G>T (p.Asp23005Tyr)
c.68812G>T (p.Asp22938Tyr)
c.68437G>T (p.Asp22813Tyr)
c.95632G>T (p.Asp31878Tyr)
c.90709G>T (p.Asp30237Tyr)
n.446+21842C>A
n.2043+3117C>A
c.94729G>T (p.Asp31577Tyr)
c.68623G>T (p.Asp22875Tyr)
c.68482G>T (p.Asp22828Tyr)
c.94525G>T (p.Asp31509Tyr)
c.89923G>T (p.Asp29975Tyr)
c.89920G>T (p.Asp29974Tyr)
c.86962G>T (p.Asp28988Tyr)
c.68578G>T (p.Asp22860Tyr)
c.90073G>T (p.Asp30025Tyr)
c.90070G>T (p.Asp30024Tyr)
c.89503G>T (p.Asp29835Tyr)
c.86845G>T (p.Asp28949Tyr)
c.86764G>T (p.Asp28922Tyr)
c.68527G>T (p.Asp22843Tyr)
c.58381G>T (p.Asp19461Tyr)
 gnomAD v4
2g.178545478C=CA1310522183TTN,TTN-AS1c.87928G= (p.Asp29310=)
c.69013G= (p.Asp23005=)
c.68812G= (p.Asp22938=)
c.68437G= (p.Asp22813=)
c.95632G= (p.Asp31878=)
c.90709G= (p.Asp30237=)
n.446+21842C=
n.2043+3117C=
c.94729G= (p.Asp31577=)
c.68623G= (p.Asp22875=)
c.68482G= (p.Asp22828=)
c.94525G= (p.Asp31509=)
c.89923G= (p.Asp29975=)
c.89920G= (p.Asp29974=)
c.86962G= (p.Asp28988=)
c.68578G= (p.Asp22860=)
c.90073G= (p.Asp30025=)
c.90070G= (p.Asp30024=)
c.89503G= (p.Asp29835=)
c.86845G= (p.Asp28949=)
c.86764G= (p.Asp28922=)
c.68527G= (p.Asp22843=)
c.58381G= (p.Asp19461=)
2g.178545478C>GCA349459759TTN,TTN-AS1c.87928G>C (p.Asp29310His)
c.69013G>C (p.Asp23005His)
c.68812G>C (p.Asp22938His)
c.68437G>C (p.Asp22813His)
c.95632G>C (p.Asp31878His)
c.90709G>C (p.Asp30237His)
n.446+21842C>G
n.2043+3117C>G
c.94729G>C (p.Asp31577His)
c.68623G>C (p.Asp22875His)
c.68482G>C (p.Asp22828His)
c.94525G>C (p.Asp31509His)
c.89923G>C (p.Asp29975His)
c.89920G>C (p.Asp29974His)
c.86962G>C (p.Asp28988His)
c.68578G>C (p.Asp22860His)
c.90073G>C (p.Asp30025His)
c.90070G>C (p.Asp30024His)
c.89503G>C (p.Asp29835His)
c.86845G>C (p.Asp28949His)
c.86764G>C (p.Asp28922His)
c.68527G>C (p.Asp22843His)
c.58381G>C (p.Asp19461His)
2g.178545478C>TCA1986912TTN,TTN-AS1c.87928G>A (p.Asp29310Asn)
c.69013G>A (p.Asp23005Asn)
c.68812G>A (p.Asp22938Asn)
c.68437G>A (p.Asp22813Asn)
c.95632G>A (p.Asp31878Asn)
c.90709G>A (p.Asp30237Asn)
n.446+21842C>T
n.2043+3117C>T
c.94729G>A (p.Asp31577Asn)
c.68623G>A (p.Asp22875Asn)
c.68482G>A (p.Asp22828Asn)
c.94525G>A (p.Asp31509Asn)
c.89923G>A (p.Asp29975Asn)
c.89920G>A (p.Asp29974Asn)
c.86962G>A (p.Asp28988Asn)
c.68578G>A (p.Asp22860Asn)
c.90073G>A (p.Asp30025Asn)
c.90070G>A (p.Asp30024Asn)
c.89503G>A (p.Asp29835Asn)
c.86845G>A (p.Asp28949Asn)
c.86764G>A (p.Asp28922Asn)
c.68527G>A (p.Asp22843Asn)
c.58381G>A (p.Asp19461Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178545479A=CA1310522185TTN,TTN-AS1c.87927T= (p.Cys29309=)
c.69012T= (p.Cys23004=)
c.68811T= (p.Cys22937=)
c.68436T= (p.Cys22812=)
c.95631T= (p.Cys31877=)
c.90708T= (p.Cys30236=)
n.446+21843A=
n.2043+3118A=
c.94728T= (p.Cys31576=)
c.68622T= (p.Cys22874=)
c.68481T= (p.Cys22827=)
c.94524T= (p.Cys31508=)
c.89922T= (p.Cys29974=)
c.89919T= (p.Cys29973=)
c.86961T= (p.Cys28987=)
c.68577T= (p.Cys22859=)
c.90072T= (p.Cys30024=)
c.90069T= (p.Cys30023=)
c.89502T= (p.Cys29834=)
c.86844T= (p.Cys28948=)
c.86763T= (p.Cys28921=)
c.68526T= (p.Cys22842=)
c.58380T= (p.Cys19460=)
2g.178545479A>CCA349459761TTN,TTN-AS1c.87927T>G (p.Cys29309Trp)
c.69012T>G (p.Cys23004Trp)
c.68811T>G (p.Cys22937Trp)
c.68436T>G (p.Cys22812Trp)
c.95631T>G (p.Cys31877Trp)
c.90708T>G (p.Cys30236Trp)
n.446+21843A>C
n.2043+3118A>C
c.94728T>G (p.Cys31576Trp)
c.68622T>G (p.Cys22874Trp)
c.68481T>G (p.Cys22827Trp)
c.94524T>G (p.Cys31508Trp)
c.89922T>G (p.Cys29974Trp)
c.89919T>G (p.Cys29973Trp)
c.86961T>G (p.Cys28987Trp)
c.68577T>G (p.Cys22859Trp)
c.90072T>G (p.Cys30024Trp)
c.90069T>G (p.Cys30023Trp)
c.89502T>G (p.Cys29834Trp)
c.86844T>G (p.Cys28948Trp)
c.86763T>G (p.Cys28921Trp)
c.68526T>G (p.Cys22842Trp)
c.58380T>G (p.Cys19460Trp)
2g.178545479A>GCA60971140TTN,TTN-AS1c.87927T>C (p.Cys29309=)
c.69012T>C (p.Cys23004=)
c.68811T>C (p.Cys22937=)
c.68436T>C (p.Cys22812=)
c.95631T>C (p.Cys31877=)
c.90708T>C (p.Cys30236=)
n.446+21843A>G
n.2043+3118A>G
c.94728T>C (p.Cys31576=)
c.68622T>C (p.Cys22874=)
c.68481T>C (p.Cys22827=)
c.94524T>C (p.Cys31508=)
c.89922T>C (p.Cys29974=)
c.89919T>C (p.Cys29973=)
c.86961T>C (p.Cys28987=)
c.68577T>C (p.Cys22859=)
c.90072T>C (p.Cys30024=)
c.90069T>C (p.Cys30023=)
c.89502T>C (p.Cys29834=)
c.86844T>C (p.Cys28948=)
c.86763T>C (p.Cys28921=)
c.68526T>C (p.Cys22842=)
c.58380T>C (p.Cys19460=)
 dbSNP
2g.178545479A>TCA349459763TTN,TTN-AS1c.87927T>A (p.Cys29309Ter)
c.69012T>A (p.Cys23004Ter)
c.68811T>A (p.Cys22937Ter)
c.68436T>A (p.Cys22812Ter)
c.95631T>A (p.Cys31877Ter)
c.90708T>A (p.Cys30236Ter)
n.446+21843A>T
n.2043+3118A>T
c.94728T>A (p.Cys31576Ter)
c.68622T>A (p.Cys22874Ter)
c.68481T>A (p.Cys22827Ter)
c.94524T>A (p.Cys31508Ter)
c.89922T>A (p.Cys29974Ter)
c.89919T>A (p.Cys29973Ter)
c.86961T>A (p.Cys28987Ter)
c.68577T>A (p.Cys22859Ter)
c.90072T>A (p.Cys30024Ter)
c.90069T>A (p.Cys30023Ter)
c.89502T>A (p.Cys29834Ter)
c.86844T>A (p.Cys28948Ter)
c.86763T>A (p.Cys28921Ter)
c.68526T>A (p.Cys22842Ter)
c.58380T>A (p.Cys19460Ter)
2g.178545480C>ACA349459772TTN,TTN-AS1c.87926G>T (p.Cys29309Phe)
c.69011G>T (p.Cys23004Phe)
c.68810G>T (p.Cys22937Phe)
c.68435G>T (p.Cys22812Phe)
c.95630G>T (p.Cys31877Phe)
c.90707G>T (p.Cys30236Phe)
n.446+21844C>A
n.2043+3119C>A
c.94727G>T (p.Cys31576Phe)
c.68621G>T (p.Cys22874Phe)
c.68480G>T (p.Cys22827Phe)
c.94523G>T (p.Cys31508Phe)
c.89921G>T (p.Cys29974Phe)
c.89918G>T (p.Cys29973Phe)
c.86960G>T (p.Cys28987Phe)
c.68576G>T (p.Cys22859Phe)
c.90071G>T (p.Cys30024Phe)
c.90068G>T (p.Cys30023Phe)
c.89501G>T (p.Cys29834Phe)
c.86843G>T (p.Cys28948Phe)
c.86762G>T (p.Cys28921Phe)
c.68525G>T (p.Cys22842Phe)
c.58379G>T (p.Cys19460Phe)
2g.178545480C=CA1310522186TTN,TTN-AS1c.87926G= (p.Cys29309=)
c.69011G= (p.Cys23004=)
c.68810G= (p.Cys22937=)
c.68435G= (p.Cys22812=)
c.95630G= (p.Cys31877=)
c.90707G= (p.Cys30236=)
n.446+21844C=
n.2043+3119C=
c.94727G= (p.Cys31576=)
c.68621G= (p.Cys22874=)
c.68480G= (p.Cys22827=)
c.94523G= (p.Cys31508=)
c.89921G= (p.Cys29974=)
c.89918G= (p.Cys29973=)
c.86960G= (p.Cys28987=)
c.68576G= (p.Cys22859=)
c.90071G= (p.Cys30024=)
c.90068G= (p.Cys30023=)
c.89501G= (p.Cys29834=)
c.86843G= (p.Cys28948=)
c.86762G= (p.Cys28921=)
c.68525G= (p.Cys22842=)
c.58379G= (p.Cys19460=)
2g.178545480C>GCA349459770TTN,TTN-AS1c.87926G>C (p.Cys29309Ser)
c.69011G>C (p.Cys23004Ser)
c.68810G>C (p.Cys22937Ser)
c.68435G>C (p.Cys22812Ser)
c.95630G>C (p.Cys31877Ser)
c.90707G>C (p.Cys30236Ser)
n.446+21844C>G
n.2043+3119C>G
c.94727G>C (p.Cys31576Ser)
c.68621G>C (p.Cys22874Ser)
c.68480G>C (p.Cys22827Ser)
c.94523G>C (p.Cys31508Ser)
c.89921G>C (p.Cys29974Ser)
c.89918G>C (p.Cys29973Ser)
c.86960G>C (p.Cys28987Ser)
c.68576G>C (p.Cys22859Ser)
c.90071G>C (p.Cys30024Ser)
c.90068G>C (p.Cys30023Ser)
c.89501G>C (p.Cys29834Ser)
c.86843G>C (p.Cys28948Ser)
c.86762G>C (p.Cys28921Ser)
c.68525G>C (p.Cys22842Ser)
c.58379G>C (p.Cys19460Ser)
2g.178545480C>TCA349459769TTN,TTN-AS1c.87926G>A (p.Cys29309Tyr)
c.69011G>A (p.Cys23004Tyr)
c.68810G>A (p.Cys22937Tyr)
c.68435G>A (p.Cys22812Tyr)
c.95630G>A (p.Cys31877Tyr)
c.90707G>A (p.Cys30236Tyr)
n.446+21844C>T
n.2043+3119C>T
c.94727G>A (p.Cys31576Tyr)
c.68621G>A (p.Cys22874Tyr)
c.68480G>A (p.Cys22827Tyr)
c.94523G>A (p.Cys31508Tyr)
c.89921G>A (p.Cys29974Tyr)
c.89918G>A (p.Cys29973Tyr)
c.86960G>A (p.Cys28987Tyr)
c.68576G>A (p.Cys22859Tyr)
c.90071G>A (p.Cys30024Tyr)
c.90068G>A (p.Cys30023Tyr)
c.89501G>A (p.Cys29834Tyr)
c.86843G>A (p.Cys28948Tyr)
c.86762G>A (p.Cys28921Tyr)
c.68525G>A (p.Cys22842Tyr)
c.58379G>A (p.Cys19460Tyr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.178545481A>CCA349459775TTN,TTN-AS1c.87925T>G (p.Cys29309Gly)
c.69010T>G (p.Cys23004Gly)
c.68809T>G (p.Cys22937Gly)
c.68434T>G (p.Cys22812Gly)
c.95629T>G (p.Cys31877Gly)
c.90706T>G (p.Cys30236Gly)
n.446+21845A>C
n.2043+3120A>C
c.94726T>G (p.Cys31576Gly)
c.68620T>G (p.Cys22874Gly)
c.68479T>G (p.Cys22827Gly)
c.94522T>G (p.Cys31508Gly)
c.89920T>G (p.Cys29974Gly)
c.89917T>G (p.Cys29973Gly)
c.86959T>G (p.Cys28987Gly)
c.68575T>G (p.Cys22859Gly)
c.90070T>G (p.Cys30024Gly)
c.90067T>G (p.Cys30023Gly)
c.89500T>G (p.Cys29834Gly)
c.86842T>G (p.Cys28948Gly)
c.86761T>G (p.Cys28921Gly)
c.68524T>G (p.Cys22842Gly)
c.58378T>G (p.Cys19460Gly)
2g.178545481A>GCA349459778TTN,TTN-AS1c.87925T>C (p.Cys29309Arg)
c.69010T>C (p.Cys23004Arg)
c.68809T>C (p.Cys22937Arg)
c.68434T>C (p.Cys22812Arg)
c.95629T>C (p.Cys31877Arg)
c.90706T>C (p.Cys30236Arg)
n.446+21845A>G
n.2043+3120A>G
c.94726T>C (p.Cys31576Arg)
c.68620T>C (p.Cys22874Arg)
c.68479T>C (p.Cys22827Arg)
c.94522T>C (p.Cys31508Arg)
c.89920T>C (p.Cys29974Arg)
c.89917T>C (p.Cys29973Arg)
c.86959T>C (p.Cys28987Arg)
c.68575T>C (p.Cys22859Arg)
c.90070T>C (p.Cys30024Arg)
c.90067T>C (p.Cys30023Arg)
c.89500T>C (p.Cys29834Arg)
c.86842T>C (p.Cys28948Arg)
c.86761T>C (p.Cys28921Arg)
c.68524T>C (p.Cys22842Arg)
c.58378T>C (p.Cys19460Arg)
2g.178545481A>TCA349459782TTN,TTN-AS1c.87925T>A (p.Cys29309Ser)
c.69010T>A (p.Cys23004Ser)
c.68809T>A (p.Cys22937Ser)
c.68434T>A (p.Cys22812Ser)
c.95629T>A (p.Cys31877Ser)
c.90706T>A (p.Cys30236Ser)
n.446+21845A>T
n.2043+3120A>T
c.94726T>A (p.Cys31576Ser)
c.68620T>A (p.Cys22874Ser)
c.68479T>A (p.Cys22827Ser)
c.94522T>A (p.Cys31508Ser)
c.89920T>A (p.Cys29974Ser)
c.89917T>A (p.Cys29973Ser)
c.86959T>A (p.Cys28987Ser)
c.68575T>A (p.Cys22859Ser)
c.90070T>A (p.Cys30024Ser)
c.90067T>A (p.Cys30023Ser)
c.89500T>A (p.Cys29834Ser)
c.86842T>A (p.Cys28948Ser)
c.86761T>A (p.Cys28921Ser)
c.68524T>A (p.Cys22842Ser)
c.58378T>A (p.Cys19460Ser)
2g.178545482A=CA1310522188TTN,TTN-AS1c.87924T= (p.Gly29308=)
c.69009T= (p.Gly23003=)
c.68808T= (p.Gly22936=)
c.68433T= (p.Gly22811=)
c.95628T= (p.Gly31876=)
c.90705T= (p.Gly30235=)
n.446+21846A=
n.2043+3121A=
c.94725T= (p.Gly31575=)
c.68619T= (p.Gly22873=)
c.68478T= (p.Gly22826=)
c.94521T= (p.Gly31507=)
c.89919T= (p.Gly29973=)
c.89916T= (p.Gly29972=)
c.86958T= (p.Gly28986=)
c.68574T= (p.Gly22858=)
c.90069T= (p.Gly30023=)
c.90066T= (p.Gly30022=)
c.89499T= (p.Gly29833=)
c.86841T= (p.Gly28947=)
c.86760T= (p.Gly28920=)
c.68523T= (p.Gly22841=)
c.58377T= (p.Gly19459=)

Number of alleles fetched