Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.178569089A=CA1310530955TTN,TTN-AS1c.69339T= (p.Tyr23113=)
c.50424T= (p.Tyr16808=)
c.50223T= (p.Tyr16741=)
c.49848T= (p.Tyr16616=)
c.77043T= (p.Tyr25681=)
c.72120T= (p.Tyr24040=)
n.447-2211A=
n.2044-13483A=
c.76140T= (p.Tyr25380=)
c.50034T= (p.Tyr16678=)
c.49893T= (p.Tyr16631=)
c.75936T= (p.Tyr25312=)
c.71334T= (p.Tyr23778=)
c.71331T= (p.Tyr23777=)
c.68373T= (p.Tyr22791=)
c.49989T= (p.Tyr16663=)
c.71484T= (p.Tyr23828=)
c.71481T= (p.Tyr23827=)
c.70914T= (p.Tyr23638=)
c.68256T= (p.Tyr22752=)
c.68175T= (p.Tyr22725=)
c.49938T= (p.Tyr16646=)
c.39792T= (p.Tyr13264=)
2g.178569089A>CCA349612792TTN,TTN-AS1c.69339T>G (p.Tyr23113Ter)
c.50424T>G (p.Tyr16808Ter)
c.50223T>G (p.Tyr16741Ter)
c.49848T>G (p.Tyr16616Ter)
c.77043T>G (p.Tyr25681Ter)
c.72120T>G (p.Tyr24040Ter)
n.447-2211A>C
n.2044-13483A>C
c.76140T>G (p.Tyr25380Ter)
c.50034T>G (p.Tyr16678Ter)
c.49893T>G (p.Tyr16631Ter)
c.75936T>G (p.Tyr25312Ter)
c.71334T>G (p.Tyr23778Ter)
c.71331T>G (p.Tyr23777Ter)
c.68373T>G (p.Tyr22791Ter)
c.49989T>G (p.Tyr16663Ter)
c.71484T>G (p.Tyr23828Ter)
c.71481T>G (p.Tyr23827Ter)
c.70914T>G (p.Tyr23638Ter)
c.68256T>G (p.Tyr22752Ter)
c.68175T>G (p.Tyr22725Ter)
c.49938T>G (p.Tyr16646Ter)
c.39792T>G (p.Tyr13264Ter)
2g.178569089A>GCA308968TTN,TTN-AS1c.69339T>C (p.Tyr23113=)
c.50424T>C (p.Tyr16808=)
c.50223T>C (p.Tyr16741=)
c.49848T>C (p.Tyr16616=)
c.77043T>C (p.Tyr25681=)
c.72120T>C (p.Tyr24040=)
n.447-2211A>G
n.2044-13483A>G
c.76140T>C (p.Tyr25380=)
c.50034T>C (p.Tyr16678=)
c.49893T>C (p.Tyr16631=)
c.75936T>C (p.Tyr25312=)
c.71334T>C (p.Tyr23778=)
c.71331T>C (p.Tyr23777=)
c.68373T>C (p.Tyr22791=)
c.49989T>C (p.Tyr16663=)
c.71484T>C (p.Tyr23828=)
c.71481T>C (p.Tyr23827=)
c.70914T>C (p.Tyr23638=)
c.68256T>C (p.Tyr22752=)
c.68175T>C (p.Tyr22725=)
c.49938T>C (p.Tyr16646=)
c.39792T>C (p.Tyr13264=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178569089A>TCA349612795TTN,TTN-AS1c.69339T>A (p.Tyr23113Ter)
c.50424T>A (p.Tyr16808Ter)
c.50223T>A (p.Tyr16741Ter)
c.49848T>A (p.Tyr16616Ter)
c.77043T>A (p.Tyr25681Ter)
c.72120T>A (p.Tyr24040Ter)
n.447-2211A>T
n.2044-13483A>T
c.76140T>A (p.Tyr25380Ter)
c.50034T>A (p.Tyr16678Ter)
c.49893T>A (p.Tyr16631Ter)
c.75936T>A (p.Tyr25312Ter)
c.71334T>A (p.Tyr23778Ter)
c.71331T>A (p.Tyr23777Ter)
c.68373T>A (p.Tyr22791Ter)
c.49989T>A (p.Tyr16663Ter)
c.71484T>A (p.Tyr23828Ter)
c.71481T>A (p.Tyr23827Ter)
c.70914T>A (p.Tyr23638Ter)
c.68256T>A (p.Tyr22752Ter)
c.68175T>A (p.Tyr22725Ter)
c.49938T>A (p.Tyr16646Ter)
c.39792T>A (p.Tyr13264Ter)
2g.178569090T>ACA349612797TTN,TTN-AS1c.69338A>T (p.Tyr23113Phe)
c.50423A>T (p.Tyr16808Phe)
c.50222A>T (p.Tyr16741Phe)
c.49847A>T (p.Tyr16616Phe)
c.77042A>T (p.Tyr25681Phe)
c.72119A>T (p.Tyr24040Phe)
n.447-2210T>A
n.2044-13482T>A
c.76139A>T (p.Tyr25380Phe)
c.50033A>T (p.Tyr16678Phe)
c.49892A>T (p.Tyr16631Phe)
c.75935A>T (p.Tyr25312Phe)
c.71333A>T (p.Tyr23778Phe)
c.71330A>T (p.Tyr23777Phe)
c.68372A>T (p.Tyr22791Phe)
c.49988A>T (p.Tyr16663Phe)
c.71483A>T (p.Tyr23828Phe)
c.71480A>T (p.Tyr23827Phe)
c.70913A>T (p.Tyr23638Phe)
c.68255A>T (p.Tyr22752Phe)
c.68174A>T (p.Tyr22725Phe)
c.49937A>T (p.Tyr16646Phe)
c.39791A>T (p.Tyr13264Phe)
2g.178569090T>CCA60993395TTN,TTN-AS1c.69338A>G (p.Tyr23113Cys)
c.50423A>G (p.Tyr16808Cys)
c.50222A>G (p.Tyr16741Cys)
c.49847A>G (p.Tyr16616Cys)
c.77042A>G (p.Tyr25681Cys)
c.72119A>G (p.Tyr24040Cys)
n.447-2210T>C
n.2044-13482T>C
c.76139A>G (p.Tyr25380Cys)
c.50033A>G (p.Tyr16678Cys)
c.49892A>G (p.Tyr16631Cys)
c.75935A>G (p.Tyr25312Cys)
c.71333A>G (p.Tyr23778Cys)
c.71330A>G (p.Tyr23777Cys)
c.68372A>G (p.Tyr22791Cys)
c.49988A>G (p.Tyr16663Cys)
c.71483A>G (p.Tyr23828Cys)
c.71480A>G (p.Tyr23827Cys)
c.70913A>G (p.Tyr23638Cys)
c.68255A>G (p.Tyr22752Cys)
c.68174A>G (p.Tyr22725Cys)
c.49937A>G (p.Tyr16646Cys)
c.39791A>G (p.Tyr13264Cys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.178569090T>GCA349612798TTN,TTN-AS1c.69338A>C (p.Tyr23113Ser)
c.50423A>C (p.Tyr16808Ser)
c.50222A>C (p.Tyr16741Ser)
c.49847A>C (p.Tyr16616Ser)
c.77042A>C (p.Tyr25681Ser)
c.72119A>C (p.Tyr24040Ser)
n.447-2210T>G
n.2044-13482T>G
c.76139A>C (p.Tyr25380Ser)
c.50033A>C (p.Tyr16678Ser)
c.49892A>C (p.Tyr16631Ser)
c.75935A>C (p.Tyr25312Ser)
c.71333A>C (p.Tyr23778Ser)
c.71330A>C (p.Tyr23777Ser)
c.68372A>C (p.Tyr22791Ser)
c.49988A>C (p.Tyr16663Ser)
c.71483A>C (p.Tyr23828Ser)
c.71480A>C (p.Tyr23827Ser)
c.70913A>C (p.Tyr23638Ser)
c.68255A>C (p.Tyr22752Ser)
c.68174A>C (p.Tyr22725Ser)
c.49937A>C (p.Tyr16646Ser)
c.39791A>C (p.Tyr13264Ser)
 gnomAD v4
2g.178569090T=CA1310530956TTN,TTN-AS1c.69338A= (p.Tyr23113=)
c.50423A= (p.Tyr16808=)
c.50222A= (p.Tyr16741=)
c.49847A= (p.Tyr16616=)
c.77042A= (p.Tyr25681=)
c.72119A= (p.Tyr24040=)
n.447-2210T=
n.2044-13482T=
c.76139A= (p.Tyr25380=)
c.50033A= (p.Tyr16678=)
c.49892A= (p.Tyr16631=)
c.75935A= (p.Tyr25312=)
c.71333A= (p.Tyr23778=)
c.71330A= (p.Tyr23777=)
c.68372A= (p.Tyr22791=)
c.49988A= (p.Tyr16663=)
c.71483A= (p.Tyr23828=)
c.71480A= (p.Tyr23827=)
c.70913A= (p.Tyr23638=)
c.68255A= (p.Tyr22752=)
c.68174A= (p.Tyr22725=)
c.49937A= (p.Tyr16646=)
c.39791A= (p.Tyr13264=)
2g.178569091A>CCA349612799TTN,TTN-AS1c.69337T>G (p.Tyr23113Asp)
c.50422T>G (p.Tyr16808Asp)
c.50221T>G (p.Tyr16741Asp)
c.49846T>G (p.Tyr16616Asp)
c.77041T>G (p.Tyr25681Asp)
c.72118T>G (p.Tyr24040Asp)
n.447-2209A>C
n.2044-13481A>C
c.76138T>G (p.Tyr25380Asp)
c.50032T>G (p.Tyr16678Asp)
c.49891T>G (p.Tyr16631Asp)
c.75934T>G (p.Tyr25312Asp)
c.71332T>G (p.Tyr23778Asp)
c.71329T>G (p.Tyr23777Asp)
c.68371T>G (p.Tyr22791Asp)
c.49987T>G (p.Tyr16663Asp)
c.71482T>G (p.Tyr23828Asp)
c.71479T>G (p.Tyr23827Asp)
c.70912T>G (p.Tyr23638Asp)
c.68254T>G (p.Tyr22752Asp)
c.68173T>G (p.Tyr22725Asp)
c.49936T>G (p.Tyr16646Asp)
c.39790T>G (p.Tyr13264Asp)
2g.178569091A>GCA349612800TTN,TTN-AS1c.69337T>C (p.Tyr23113His)
c.50422T>C (p.Tyr16808His)
c.50221T>C (p.Tyr16741His)
c.49846T>C (p.Tyr16616His)
c.77041T>C (p.Tyr25681His)
c.72118T>C (p.Tyr24040His)
n.447-2209A>G
n.2044-13481A>G
c.76138T>C (p.Tyr25380His)
c.50032T>C (p.Tyr16678His)
c.49891T>C (p.Tyr16631His)
c.75934T>C (p.Tyr25312His)
c.71332T>C (p.Tyr23778His)
c.71329T>C (p.Tyr23777His)
c.68371T>C (p.Tyr22791His)
c.49987T>C (p.Tyr16663His)
c.71482T>C (p.Tyr23828His)
c.71479T>C (p.Tyr23827His)
c.70912T>C (p.Tyr23638His)
c.68254T>C (p.Tyr22752His)
c.68173T>C (p.Tyr22725His)
c.49936T>C (p.Tyr16646His)
c.39790T>C (p.Tyr13264His)
 ClinVar
2g.178569091A>TCA349612802TTN,TTN-AS1c.69337T>A (p.Tyr23113Asn)
c.50422T>A (p.Tyr16808Asn)
c.50221T>A (p.Tyr16741Asn)
c.49846T>A (p.Tyr16616Asn)
c.77041T>A (p.Tyr25681Asn)
c.72118T>A (p.Tyr24040Asn)
n.447-2209A>T
n.2044-13481A>T
c.76138T>A (p.Tyr25380Asn)
c.50032T>A (p.Tyr16678Asn)
c.49891T>A (p.Tyr16631Asn)
c.75934T>A (p.Tyr25312Asn)
c.71332T>A (p.Tyr23778Asn)
c.71329T>A (p.Tyr23777Asn)
c.68371T>A (p.Tyr22791Asn)
c.49987T>A (p.Tyr16663Asn)
c.71482T>A (p.Tyr23828Asn)
c.71479T>A (p.Tyr23827Asn)
c.70912T>A (p.Tyr23638Asn)
c.68254T>A (p.Tyr22752Asn)
c.68173T>A (p.Tyr22725Asn)
c.49936T>A (p.Tyr16646Asn)
c.39790T>A (p.Tyr13264Asn)
2g.178569092C>ACA349612806TTN,TTN-AS1c.69336G>T (p.Glu23112Asp)
c.50421G>T (p.Glu16807Asp)
c.50220G>T (p.Glu16740Asp)
c.49845G>T (p.Glu16615Asp)
c.77040G>T (p.Glu25680Asp)
c.72117G>T (p.Glu24039Asp)
n.447-2208C>A
n.2044-13480C>A
c.76137G>T (p.Glu25379Asp)
c.50031G>T (p.Glu16677Asp)
c.49890G>T (p.Glu16630Asp)
c.75933G>T (p.Glu25311Asp)
c.71331G>T (p.Glu23777Asp)
c.71328G>T (p.Glu23776Asp)
c.68370G>T (p.Glu22790Asp)
c.49986G>T (p.Glu16662Asp)
c.71481G>T (p.Glu23827Asp)
c.71478G>T (p.Glu23826Asp)
c.70911G>T (p.Glu23637Asp)
c.68253G>T (p.Glu22751Asp)
c.68172G>T (p.Glu22724Asp)
c.49935G>T (p.Glu16645Asp)
c.39789G>T (p.Glu13263Asp)
2g.178569092C=CA1310530958TTN,TTN-AS1c.69336G= (p.Glu23112=)
c.50421G= (p.Glu16807=)
c.50220G= (p.Glu16740=)
c.49845G= (p.Glu16615=)
c.77040G= (p.Glu25680=)
c.72117G= (p.Glu24039=)
n.447-2208C=
n.2044-13480C=
c.76137G= (p.Glu25379=)
c.50031G= (p.Glu16677=)
c.49890G= (p.Glu16630=)
c.75933G= (p.Glu25311=)
c.71331G= (p.Glu23777=)
c.71328G= (p.Glu23776=)
c.68370G= (p.Glu22790=)
c.49986G= (p.Glu16662=)
c.71481G= (p.Glu23827=)
c.71478G= (p.Glu23826=)
c.70911G= (p.Glu23637=)
c.68253G= (p.Glu22751=)
c.68172G= (p.Glu22724=)
c.49935G= (p.Glu16645=)
c.39789G= (p.Glu13263=)
2g.178569092C>GCA349612804TTN,TTN-AS1c.69336G>C (p.Glu23112Asp)
c.50421G>C (p.Glu16807Asp)
c.50220G>C (p.Glu16740Asp)
c.49845G>C (p.Glu16615Asp)
c.77040G>C (p.Glu25680Asp)
c.72117G>C (p.Glu24039Asp)
n.447-2208C>G
n.2044-13480C>G
c.76137G>C (p.Glu25379Asp)
c.50031G>C (p.Glu16677Asp)
c.49890G>C (p.Glu16630Asp)
c.75933G>C (p.Glu25311Asp)
c.71331G>C (p.Glu23777Asp)
c.71328G>C (p.Glu23776Asp)
c.68370G>C (p.Glu22790Asp)
c.49986G>C (p.Glu16662Asp)
c.71481G>C (p.Glu23827Asp)
c.71478G>C (p.Glu23826Asp)
c.70911G>C (p.Glu23637Asp)
c.68253G>C (p.Glu22751Asp)
c.68172G>C (p.Glu22724Asp)
c.49935G>C (p.Glu16645Asp)
c.39789G>C (p.Glu13263Asp)
 gnomAD v4
2g.178569092C>TCA60993397TTN,TTN-AS1c.69336G>A (p.Glu23112=)
c.50421G>A (p.Glu16807=)
c.50220G>A (p.Glu16740=)
c.49845G>A (p.Glu16615=)
c.77040G>A (p.Glu25680=)
c.72117G>A (p.Glu24039=)
n.447-2208C>T
n.2044-13480C>T
c.76137G>A (p.Glu25379=)
c.50031G>A (p.Glu16677=)
c.49890G>A (p.Glu16630=)
c.75933G>A (p.Glu25311=)
c.71331G>A (p.Glu23777=)
c.71328G>A (p.Glu23776=)
c.68370G>A (p.Glu22790=)
c.49986G>A (p.Glu16662=)
c.71481G>A (p.Glu23827=)
c.71478G>A (p.Glu23826=)
c.70911G>A (p.Glu23637=)
c.68253G>A (p.Glu22751=)
c.68172G>A (p.Glu22724=)
c.49935G>A (p.Glu16645=)
c.39789G>A (p.Glu13263=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.178569093T>ACA349612809TTN,TTN-AS1c.69335A>T (p.Glu23112Val)
c.50420A>T (p.Glu16807Val)
c.50219A>T (p.Glu16740Val)
c.49844A>T (p.Glu16615Val)
c.77039A>T (p.Glu25680Val)
c.72116A>T (p.Glu24039Val)
n.447-2207T>A
n.2044-13479T>A
c.76136A>T (p.Glu25379Val)
c.50030A>T (p.Glu16677Val)
c.49889A>T (p.Glu16630Val)
c.75932A>T (p.Glu25311Val)
c.71330A>T (p.Glu23777Val)
c.71327A>T (p.Glu23776Val)
c.68369A>T (p.Glu22790Val)
c.49985A>T (p.Glu16662Val)
c.71480A>T (p.Glu23827Val)
c.71477A>T (p.Glu23826Val)
c.70910A>T (p.Glu23637Val)
c.68252A>T (p.Glu22751Val)
c.68171A>T (p.Glu22724Val)
c.49934A>T (p.Glu16645Val)
c.39788A>T (p.Glu13263Val)
2g.178569093T>CCA349612811TTN,TTN-AS1c.69335A>G (p.Glu23112Gly)
c.50420A>G (p.Glu16807Gly)
c.50219A>G (p.Glu16740Gly)
c.49844A>G (p.Glu16615Gly)
c.77039A>G (p.Glu25680Gly)
c.72116A>G (p.Glu24039Gly)
n.447-2207T>C
n.2044-13479T>C
c.76136A>G (p.Glu25379Gly)
c.50030A>G (p.Glu16677Gly)
c.49889A>G (p.Glu16630Gly)
c.75932A>G (p.Glu25311Gly)
c.71330A>G (p.Glu23777Gly)
c.71327A>G (p.Glu23776Gly)
c.68369A>G (p.Glu22790Gly)
c.49985A>G (p.Glu16662Gly)
c.71480A>G (p.Glu23827Gly)
c.71477A>G (p.Glu23826Gly)
c.70910A>G (p.Glu23637Gly)
c.68252A>G (p.Glu22751Gly)
c.68171A>G (p.Glu22724Gly)
c.49934A>G (p.Glu16645Gly)
c.39788A>G (p.Glu13263Gly)
2g.178569093T>GCA349612810TTN,TTN-AS1c.69335A>C (p.Glu23112Ala)
c.50420A>C (p.Glu16807Ala)
c.50219A>C (p.Glu16740Ala)
c.49844A>C (p.Glu16615Ala)
c.77039A>C (p.Glu25680Ala)
c.72116A>C (p.Glu24039Ala)
n.447-2207T>G
n.2044-13479T>G
c.76136A>C (p.Glu25379Ala)
c.50030A>C (p.Glu16677Ala)
c.49889A>C (p.Glu16630Ala)
c.75932A>C (p.Glu25311Ala)
c.71330A>C (p.Glu23777Ala)
c.71327A>C (p.Glu23776Ala)
c.68369A>C (p.Glu22790Ala)
c.49985A>C (p.Glu16662Ala)
c.71480A>C (p.Glu23827Ala)
c.71477A>C (p.Glu23826Ala)
c.70910A>C (p.Glu23637Ala)
c.68252A>C (p.Glu22751Ala)
c.68171A>C (p.Glu22724Ala)
c.49934A>C (p.Glu16645Ala)
c.39788A>C (p.Glu13263Ala)
2g.178569094C>ACA349612815TTN,TTN-AS1c.69334G>T (p.Glu23112Ter)
c.50419G>T (p.Glu16807Ter)
c.50218G>T (p.Glu16740Ter)
c.49843G>T (p.Glu16615Ter)
c.77038G>T (p.Glu25680Ter)
c.72115G>T (p.Glu24039Ter)
n.447-2206C>A
n.2044-13478C>A
c.76135G>T (p.Glu25379Ter)
c.50029G>T (p.Glu16677Ter)
c.49888G>T (p.Glu16630Ter)
c.75931G>T (p.Glu25311Ter)
c.71329G>T (p.Glu23777Ter)
c.71326G>T (p.Glu23776Ter)
c.68368G>T (p.Glu22790Ter)
c.49984G>T (p.Glu16662Ter)
c.71479G>T (p.Glu23827Ter)
c.71476G>T (p.Glu23826Ter)
c.70909G>T (p.Glu23637Ter)
c.68251G>T (p.Glu22751Ter)
c.68170G>T (p.Glu22724Ter)
c.49933G>T (p.Glu16645Ter)
c.39787G>T (p.Glu13263Ter)
2g.178569094C=CA1310530960TTN,TTN-AS1c.69334G= (p.Glu23112=)
c.50419G= (p.Glu16807=)
c.50218G= (p.Glu16740=)
c.49843G= (p.Glu16615=)
c.77038G= (p.Glu25680=)
c.72115G= (p.Glu24039=)
n.447-2206C=
n.2044-13478C=
c.76135G= (p.Glu25379=)
c.50029G= (p.Glu16677=)
c.49888G= (p.Glu16630=)
c.75931G= (p.Glu25311=)
c.71329G= (p.Glu23777=)
c.71326G= (p.Glu23776=)
c.68368G= (p.Glu22790=)
c.49984G= (p.Glu16662=)
c.71479G= (p.Glu23827=)
c.71476G= (p.Glu23826=)
c.70909G= (p.Glu23637=)
c.68251G= (p.Glu22751=)
c.68170G= (p.Glu22724=)
c.49933G= (p.Glu16645=)
c.39787G= (p.Glu13263=)
2g.178569094C>GCA349612816TTN,TTN-AS1c.69334G>C (p.Glu23112Gln)
c.50419G>C (p.Glu16807Gln)
c.50218G>C (p.Glu16740Gln)
c.49843G>C (p.Glu16615Gln)
c.77038G>C (p.Glu25680Gln)
c.72115G>C (p.Glu24039Gln)
n.447-2206C>G
n.2044-13478C>G
c.76135G>C (p.Glu25379Gln)
c.50029G>C (p.Glu16677Gln)
c.49888G>C (p.Glu16630Gln)
c.75931G>C (p.Glu25311Gln)
c.71329G>C (p.Glu23777Gln)
c.71326G>C (p.Glu23776Gln)
c.68368G>C (p.Glu22790Gln)
c.49984G>C (p.Glu16662Gln)
c.71479G>C (p.Glu23827Gln)
c.71476G>C (p.Glu23826Gln)
c.70909G>C (p.Glu23637Gln)
c.68251G>C (p.Glu22751Gln)
c.68170G>C (p.Glu22724Gln)
c.49933G>C (p.Glu16645Gln)
c.39787G>C (p.Glu13263Gln)
2g.178569094C>TCA349612818TTN,TTN-AS1c.69334G>A (p.Glu23112Lys)
c.50419G>A (p.Glu16807Lys)
c.50218G>A (p.Glu16740Lys)
c.49843G>A (p.Glu16615Lys)
c.77038G>A (p.Glu25680Lys)
c.72115G>A (p.Glu24039Lys)
n.447-2206C>T
n.2044-13478C>T
c.76135G>A (p.Glu25379Lys)
c.50029G>A (p.Glu16677Lys)
c.49888G>A (p.Glu16630Lys)
c.75931G>A (p.Glu25311Lys)
c.71329G>A (p.Glu23777Lys)
c.71326G>A (p.Glu23776Lys)
c.68368G>A (p.Glu22790Lys)
c.49984G>A (p.Glu16662Lys)
c.71479G>A (p.Glu23827Lys)
c.71476G>A (p.Glu23826Lys)
c.70909G>A (p.Glu23637Lys)
c.68251G>A (p.Glu22751Lys)
c.68170G>A (p.Glu22724Lys)
c.49933G>A (p.Glu16645Lys)
c.39787G>A (p.Glu13263Lys)
 dbSNP gnomAD v2 gnomAD v4
2g.178569095A=CA1310530962TTN,TTN-AS1c.69333T= (p.Asn23111=)
c.50418T= (p.Asn16806=)
c.50217T= (p.Asn16739=)
c.49842T= (p.Asn16614=)
c.77037T= (p.Asn25679=)
c.72114T= (p.Asn24038=)
n.447-2205A=
n.2044-13477A=
c.76134T= (p.Asn25378=)
c.50028T= (p.Asn16676=)
c.49887T= (p.Asn16629=)
c.75930T= (p.Asn25310=)
c.71328T= (p.Asn23776=)
c.71325T= (p.Asn23775=)
c.68367T= (p.Asn22789=)
c.49983T= (p.Asn16661=)
c.71478T= (p.Asn23826=)
c.71475T= (p.Asn23825=)
c.70908T= (p.Asn23636=)
c.68250T= (p.Asn22750=)
c.68169T= (p.Asn22723=)
c.49932T= (p.Asn16644=)
c.39786T= (p.Asn13262=)
2g.178569095A>CCA349612821TTN,TTN-AS1c.69333T>G (p.Asn23111Lys)
c.50418T>G (p.Asn16806Lys)
c.50217T>G (p.Asn16739Lys)
c.49842T>G (p.Asn16614Lys)
c.77037T>G (p.Asn25679Lys)
c.72114T>G (p.Asn24038Lys)
n.447-2205A>C
n.2044-13477A>C
c.76134T>G (p.Asn25378Lys)
c.50028T>G (p.Asn16676Lys)
c.49887T>G (p.Asn16629Lys)
c.75930T>G (p.Asn25310Lys)
c.71328T>G (p.Asn23776Lys)
c.71325T>G (p.Asn23775Lys)
c.68367T>G (p.Asn22789Lys)
c.49983T>G (p.Asn16661Lys)
c.71478T>G (p.Asn23826Lys)
c.71475T>G (p.Asn23825Lys)
c.70908T>G (p.Asn23636Lys)
c.68250T>G (p.Asn22750Lys)
c.68169T>G (p.Asn22723Lys)
c.49932T>G (p.Asn16644Lys)
c.39786T>G (p.Asn13262Lys)
 gnomAD v4
2g.178569095A>GCA1989830TTN,TTN-AS1c.69333T>C (p.Asn23111=)
c.50418T>C (p.Asn16806=)
c.50217T>C (p.Asn16739=)
c.49842T>C (p.Asn16614=)
c.77037T>C (p.Asn25679=)
c.72114T>C (p.Asn24038=)
n.447-2205A>G
n.2044-13477A>G
c.76134T>C (p.Asn25378=)
c.50028T>C (p.Asn16676=)
c.49887T>C (p.Asn16629=)
c.75930T>C (p.Asn25310=)
c.71328T>C (p.Asn23776=)
c.71325T>C (p.Asn23775=)
c.68367T>C (p.Asn22789=)
c.49983T>C (p.Asn16661=)
c.71478T>C (p.Asn23826=)
c.71475T>C (p.Asn23825=)
c.70908T>C (p.Asn23636=)
c.68250T>C (p.Asn22750=)
c.68169T>C (p.Asn22723=)
c.49932T>C (p.Asn16644=)
c.39786T>C (p.Asn13262=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178569095A>TCA349612824TTN,TTN-AS1c.69333T>A (p.Asn23111Lys)
c.50418T>A (p.Asn16806Lys)
c.50217T>A (p.Asn16739Lys)
c.49842T>A (p.Asn16614Lys)
c.77037T>A (p.Asn25679Lys)
c.72114T>A (p.Asn24038Lys)
n.447-2205A>T
n.2044-13477A>T
c.76134T>A (p.Asn25378Lys)
c.50028T>A (p.Asn16676Lys)
c.49887T>A (p.Asn16629Lys)
c.75930T>A (p.Asn25310Lys)
c.71328T>A (p.Asn23776Lys)
c.71325T>A (p.Asn23775Lys)
c.68367T>A (p.Asn22789Lys)
c.49983T>A (p.Asn16661Lys)
c.71478T>A (p.Asn23826Lys)
c.71475T>A (p.Asn23825Lys)
c.70908T>A (p.Asn23636Lys)
c.68250T>A (p.Asn22750Lys)
c.68169T>A (p.Asn22723Lys)
c.49932T>A (p.Asn16644Lys)
c.39786T>A (p.Asn13262Lys)
2g.178569096T>ACA349612826TTN,TTN-AS1c.69332A>T (p.Asn23111Ile)
c.50417A>T (p.Asn16806Ile)
c.50216A>T (p.Asn16739Ile)
c.49841A>T (p.Asn16614Ile)
c.77036A>T (p.Asn25679Ile)
c.72113A>T (p.Asn24038Ile)
n.447-2204T>A
n.2044-13476T>A
c.76133A>T (p.Asn25378Ile)
c.50027A>T (p.Asn16676Ile)
c.49886A>T (p.Asn16629Ile)
c.75929A>T (p.Asn25310Ile)
c.71327A>T (p.Asn23776Ile)
c.71324A>T (p.Asn23775Ile)
c.68366A>T (p.Asn22789Ile)
c.49982A>T (p.Asn16661Ile)
c.71477A>T (p.Asn23826Ile)
c.71474A>T (p.Asn23825Ile)
c.70907A>T (p.Asn23636Ile)
c.68249A>T (p.Asn22750Ile)
c.68168A>T (p.Asn22723Ile)
c.49931A>T (p.Asn16644Ile)
c.39785A>T (p.Asn13262Ile)
2g.178569096T>CCA1989831TTN,TTN-AS1c.69332A>G (p.Asn23111Ser)
c.50417A>G (p.Asn16806Ser)
c.50216A>G (p.Asn16739Ser)
c.49841A>G (p.Asn16614Ser)
c.77036A>G (p.Asn25679Ser)
c.72113A>G (p.Asn24038Ser)
n.447-2204T>C
n.2044-13476T>C
c.76133A>G (p.Asn25378Ser)
c.50027A>G (p.Asn16676Ser)
c.49886A>G (p.Asn16629Ser)
c.75929A>G (p.Asn25310Ser)
c.71327A>G (p.Asn23776Ser)
c.71324A>G (p.Asn23775Ser)
c.68366A>G (p.Asn22789Ser)
c.49982A>G (p.Asn16661Ser)
c.71477A>G (p.Asn23826Ser)
c.71474A>G (p.Asn23825Ser)
c.70907A>G (p.Asn23636Ser)
c.68249A>G (p.Asn22750Ser)
c.68168A>G (p.Asn22723Ser)
c.49931A>G (p.Asn16644Ser)
c.39785A>G (p.Asn13262Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178569096T>GCA349612830TTN,TTN-AS1c.69332A>C (p.Asn23111Thr)
c.50417A>C (p.Asn16806Thr)
c.50216A>C (p.Asn16739Thr)
c.49841A>C (p.Asn16614Thr)
c.77036A>C (p.Asn25679Thr)
c.72113A>C (p.Asn24038Thr)
n.447-2204T>G
n.2044-13476T>G
c.76133A>C (p.Asn25378Thr)
c.50027A>C (p.Asn16676Thr)
c.49886A>C (p.Asn16629Thr)
c.75929A>C (p.Asn25310Thr)
c.71327A>C (p.Asn23776Thr)
c.71324A>C (p.Asn23775Thr)
c.68366A>C (p.Asn22789Thr)
c.49982A>C (p.Asn16661Thr)
c.71477A>C (p.Asn23826Thr)
c.71474A>C (p.Asn23825Thr)
c.70907A>C (p.Asn23636Thr)
c.68249A>C (p.Asn22750Thr)
c.68168A>C (p.Asn22723Thr)
c.49931A>C (p.Asn16644Thr)
c.39785A>C (p.Asn13262Thr)
2g.178569096T=CA1310530964TTN,TTN-AS1c.69332A= (p.Asn23111=)
c.50417A= (p.Asn16806=)
c.50216A= (p.Asn16739=)
c.49841A= (p.Asn16614=)
c.77036A= (p.Asn25679=)
c.72113A= (p.Asn24038=)
n.447-2204T=
n.2044-13476T=
c.76133A= (p.Asn25378=)
c.50027A= (p.Asn16676=)
c.49886A= (p.Asn16629=)
c.75929A= (p.Asn25310=)
c.71327A= (p.Asn23776=)
c.71324A= (p.Asn23775=)
c.68366A= (p.Asn22789=)
c.49982A= (p.Asn16661=)
c.71477A= (p.Asn23826=)
c.71474A= (p.Asn23825=)
c.70907A= (p.Asn23636=)
c.68249A= (p.Asn22750=)
c.68168A= (p.Asn22723=)
c.49931A= (p.Asn16644=)
c.39785A= (p.Asn13262=)
2g.178569097T>ACA349612833TTN,TTN-AS1c.69331A>T (p.Asn23111Tyr)
c.50416A>T (p.Asn16806Tyr)
c.50215A>T (p.Asn16739Tyr)
c.49840A>T (p.Asn16614Tyr)
c.77035A>T (p.Asn25679Tyr)
c.72112A>T (p.Asn24038Tyr)
n.447-2203T>A
n.2044-13475T>A
c.76132A>T (p.Asn25378Tyr)
c.50026A>T (p.Asn16676Tyr)
c.49885A>T (p.Asn16629Tyr)
c.75928A>T (p.Asn25310Tyr)
c.71326A>T (p.Asn23776Tyr)
c.71323A>T (p.Asn23775Tyr)
c.68365A>T (p.Asn22789Tyr)
c.49981A>T (p.Asn16661Tyr)
c.71476A>T (p.Asn23826Tyr)
c.71473A>T (p.Asn23825Tyr)
c.70906A>T (p.Asn23636Tyr)
c.68248A>T (p.Asn22750Tyr)
c.68167A>T (p.Asn22723Tyr)
c.49930A>T (p.Asn16644Tyr)
c.39784A>T (p.Asn13262Tyr)
2g.178569097T>CCA349612834TTN,TTN-AS1c.69331A>G (p.Asn23111Asp)
c.50416A>G (p.Asn16806Asp)
c.50215A>G (p.Asn16739Asp)
c.49840A>G (p.Asn16614Asp)
c.77035A>G (p.Asn25679Asp)
c.72112A>G (p.Asn24038Asp)
n.447-2203T>C
n.2044-13475T>C
c.76132A>G (p.Asn25378Asp)
c.50026A>G (p.Asn16676Asp)
c.49885A>G (p.Asn16629Asp)
c.75928A>G (p.Asn25310Asp)
c.71326A>G (p.Asn23776Asp)
c.71323A>G (p.Asn23775Asp)
c.68365A>G (p.Asn22789Asp)
c.49981A>G (p.Asn16661Asp)
c.71476A>G (p.Asn23826Asp)
c.71473A>G (p.Asn23825Asp)
c.70906A>G (p.Asn23636Asp)
c.68248A>G (p.Asn22750Asp)
c.68167A>G (p.Asn22723Asp)
c.49930A>G (p.Asn16644Asp)
c.39784A>G (p.Asn13262Asp)
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
2g.178569097T>GCA348845TTN,TTN-AS1c.69331A>C (p.Asn23111His)
c.50416A>C (p.Asn16806His)
c.50215A>C (p.Asn16739His)
c.49840A>C (p.Asn16614His)
c.77035A>C (p.Asn25679His)
c.72112A>C (p.Asn24038His)
n.447-2203T>G
n.2044-13475T>G
c.76132A>C (p.Asn25378His)
c.50026A>C (p.Asn16676His)
c.49885A>C (p.Asn16629His)
c.75928A>C (p.Asn25310His)
c.71326A>C (p.Asn23776His)
c.71323A>C (p.Asn23775His)
c.68365A>C (p.Asn22789His)
c.49981A>C (p.Asn16661His)
c.71476A>C (p.Asn23826His)
c.71473A>C (p.Asn23825His)
c.70906A>C (p.Asn23636His)
c.68248A>C (p.Asn22750His)
c.68167A>C (p.Asn22723His)
c.49930A>C (p.Asn16644His)
c.39784A>C (p.Asn13262His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178569097T=CA1310530967TTN,TTN-AS1c.69331A= (p.Asn23111=)
c.50416A= (p.Asn16806=)
c.50215A= (p.Asn16739=)
c.49840A= (p.Asn16614=)
c.77035A= (p.Asn25679=)
c.72112A= (p.Asn24038=)
n.447-2203T=
n.2044-13475T=
c.76132A= (p.Asn25378=)
c.50026A= (p.Asn16676=)
c.49885A= (p.Asn16629=)
c.75928A= (p.Asn25310=)
c.71326A= (p.Asn23776=)
c.71323A= (p.Asn23775=)
c.68365A= (p.Asn22789=)
c.49981A= (p.Asn16661=)
c.71476A= (p.Asn23826=)
c.71473A= (p.Asn23825=)
c.70906A= (p.Asn23636=)
c.68248A= (p.Asn22750=)
c.68167A= (p.Asn22723=)
c.49930A= (p.Asn16644=)
c.39784A= (p.Asn13262=)
2g.178569098C>ACA349612838TTN,TTN-AS1c.69330G>T (p.Glu23110Asp)
c.50415G>T (p.Glu16805Asp)
c.50214G>T (p.Glu16738Asp)
c.49839G>T (p.Glu16613Asp)
c.77034G>T (p.Glu25678Asp)
c.72111G>T (p.Glu24037Asp)
n.447-2202C>A
n.2044-13474C>A
c.76131G>T (p.Glu25377Asp)
c.50025G>T (p.Glu16675Asp)
c.49884G>T (p.Glu16628Asp)
c.75927G>T (p.Glu25309Asp)
c.71325G>T (p.Glu23775Asp)
c.71322G>T (p.Glu23774Asp)
c.68364G>T (p.Glu22788Asp)
c.49980G>T (p.Glu16660Asp)
c.71475G>T (p.Glu23825Asp)
c.71472G>T (p.Glu23824Asp)
c.70905G>T (p.Glu23635Asp)
c.68247G>T (p.Glu22749Asp)
c.68166G>T (p.Glu22722Asp)
c.49929G>T (p.Glu16643Asp)
c.39783G>T (p.Glu13261Asp)
2g.178569098C=CA1310530970TTN,TTN-AS1c.69330G= (p.Glu23110=)
c.50415G= (p.Glu16805=)
c.50214G= (p.Glu16738=)
c.49839G= (p.Glu16613=)
c.77034G= (p.Glu25678=)
c.72111G= (p.Glu24037=)
n.447-2202C=
n.2044-13474C=
c.76131G= (p.Glu25377=)
c.50025G= (p.Glu16675=)
c.49884G= (p.Glu16628=)
c.75927G= (p.Glu25309=)
c.71325G= (p.Glu23775=)
c.71322G= (p.Glu23774=)
c.68364G= (p.Glu22788=)
c.49980G= (p.Glu16660=)
c.71475G= (p.Glu23825=)
c.71472G= (p.Glu23824=)
c.70905G= (p.Glu23635=)
c.68247G= (p.Glu22749=)
c.68166G= (p.Glu22722=)
c.49929G= (p.Glu16643=)
c.39783G= (p.Glu13261=)
2g.178569098C>GCA349612839TTN,TTN-AS1c.69330G>C (p.Glu23110Asp)
c.50415G>C (p.Glu16805Asp)
c.50214G>C (p.Glu16738Asp)
c.49839G>C (p.Glu16613Asp)
c.77034G>C (p.Glu25678Asp)
c.72111G>C (p.Glu24037Asp)
n.447-2202C>G
n.2044-13474C>G
c.76131G>C (p.Glu25377Asp)
c.50025G>C (p.Glu16675Asp)
c.49884G>C (p.Glu16628Asp)
c.75927G>C (p.Glu25309Asp)
c.71325G>C (p.Glu23775Asp)
c.71322G>C (p.Glu23774Asp)
c.68364G>C (p.Glu22788Asp)
c.49980G>C (p.Glu16660Asp)
c.71475G>C (p.Glu23825Asp)
c.71472G>C (p.Glu23824Asp)
c.70905G>C (p.Glu23635Asp)
c.68247G>C (p.Glu22749Asp)
c.68166G>C (p.Glu22722Asp)
c.49929G>C (p.Glu16643Asp)
c.39783G>C (p.Glu13261Asp)
 dbSNP COSMIC COSMIC COSMIC COSMIC
2g.178569098C>TCA430253538TTN,TTN-AS1c.69330G>A (p.Glu23110=)
c.50415G>A (p.Glu16805=)
c.50214G>A (p.Glu16738=)
c.49839G>A (p.Glu16613=)
c.77034G>A (p.Glu25678=)
c.72111G>A (p.Glu24037=)
n.447-2202C>T
n.2044-13474C>T
c.76131G>A (p.Glu25377=)
c.50025G>A (p.Glu16675=)
c.49884G>A (p.Glu16628=)
c.75927G>A (p.Glu25309=)
c.71325G>A (p.Glu23775=)
c.71322G>A (p.Glu23774=)
c.68364G>A (p.Glu22788=)
c.49980G>A (p.Glu16660=)
c.71475G>A (p.Glu23825=)
c.71472G>A (p.Glu23824=)
c.70905G>A (p.Glu23635=)
c.68247G>A (p.Glu22749=)
c.68166G>A (p.Glu22722=)
c.49929G>A (p.Glu16643=)
c.39783G>A (p.Glu13261=)
 dbSNP
2g.178569099T>ACA349612841TTN,TTN-AS1c.69329A>T (p.Glu23110Val)
c.50414A>T (p.Glu16805Val)
c.50213A>T (p.Glu16738Val)
c.49838A>T (p.Glu16613Val)
c.77033A>T (p.Glu25678Val)
c.72110A>T (p.Glu24037Val)
n.447-2201T>A
n.2044-13473T>A
c.76130A>T (p.Glu25377Val)
c.50024A>T (p.Glu16675Val)
c.49883A>T (p.Glu16628Val)
c.75926A>T (p.Glu25309Val)
c.71324A>T (p.Glu23775Val)
c.71321A>T (p.Glu23774Val)
c.68363A>T (p.Glu22788Val)
c.49979A>T (p.Glu16660Val)
c.71474A>T (p.Glu23825Val)
c.71471A>T (p.Glu23824Val)
c.70904A>T (p.Glu23635Val)
c.68246A>T (p.Glu22749Val)
c.68165A>T (p.Glu22722Val)
c.49928A>T (p.Glu16643Val)
c.39782A>T (p.Glu13261Val)
2g.178569099T>CCA349612842TTN,TTN-AS1c.69329A>G (p.Glu23110Gly)
c.50414A>G (p.Glu16805Gly)
c.50213A>G (p.Glu16738Gly)
c.49838A>G (p.Glu16613Gly)
c.77033A>G (p.Glu25678Gly)
c.72110A>G (p.Glu24037Gly)
n.447-2201T>C
n.2044-13473T>C
c.76130A>G (p.Glu25377Gly)
c.50024A>G (p.Glu16675Gly)
c.49883A>G (p.Glu16628Gly)
c.75926A>G (p.Glu25309Gly)
c.71324A>G (p.Glu23775Gly)
c.71321A>G (p.Glu23774Gly)
c.68363A>G (p.Glu22788Gly)
c.49979A>G (p.Glu16660Gly)
c.71474A>G (p.Glu23825Gly)
c.71471A>G (p.Glu23824Gly)
c.70904A>G (p.Glu23635Gly)
c.68246A>G (p.Glu22749Gly)
c.68165A>G (p.Glu22722Gly)
c.49928A>G (p.Glu16643Gly)
c.39782A>G (p.Glu13261Gly)
2g.178569099T>GCA349612844TTN,TTN-AS1c.69329A>C (p.Glu23110Ala)
c.50414A>C (p.Glu16805Ala)
c.50213A>C (p.Glu16738Ala)
c.49838A>C (p.Glu16613Ala)
c.77033A>C (p.Glu25678Ala)
c.72110A>C (p.Glu24037Ala)
n.447-2201T>G
n.2044-13473T>G
c.76130A>C (p.Glu25377Ala)
c.50024A>C (p.Glu16675Ala)
c.49883A>C (p.Glu16628Ala)
c.75926A>C (p.Glu25309Ala)
c.71324A>C (p.Glu23775Ala)
c.71321A>C (p.Glu23774Ala)
c.68363A>C (p.Glu22788Ala)
c.49979A>C (p.Glu16660Ala)
c.71474A>C (p.Glu23825Ala)
c.71471A>C (p.Glu23824Ala)
c.70904A>C (p.Glu23635Ala)
c.68246A>C (p.Glu22749Ala)
c.68165A>C (p.Glu22722Ala)
c.49928A>C (p.Glu16643Ala)
c.39782A>C (p.Glu13261Ala)
2g.178569100C>ACA349612847TTN,TTN-AS1c.69328G>T (p.Glu23110Ter)
c.50413G>T (p.Glu16805Ter)
c.50212G>T (p.Glu16738Ter)
c.49837G>T (p.Glu16613Ter)
c.77032G>T (p.Glu25678Ter)
c.72109G>T (p.Glu24037Ter)
n.447-2200C>A
n.2044-13472C>A
c.76129G>T (p.Glu25377Ter)
c.50023G>T (p.Glu16675Ter)
c.49882G>T (p.Glu16628Ter)
c.75925G>T (p.Glu25309Ter)
c.71323G>T (p.Glu23775Ter)
c.71320G>T (p.Glu23774Ter)
c.68362G>T (p.Glu22788Ter)
c.49978G>T (p.Glu16660Ter)
c.71473G>T (p.Glu23825Ter)
c.71470G>T (p.Glu23824Ter)
c.70903G>T (p.Glu23635Ter)
c.68245G>T (p.Glu22749Ter)
c.68164G>T (p.Glu22722Ter)
c.49927G>T (p.Glu16643Ter)
c.39781G>T (p.Glu13261Ter)
2g.178569100C>GCA349612848TTN,TTN-AS1c.69328G>C (p.Glu23110Gln)
c.50413G>C (p.Glu16805Gln)
c.50212G>C (p.Glu16738Gln)
c.49837G>C (p.Glu16613Gln)
c.77032G>C (p.Glu25678Gln)
c.72109G>C (p.Glu24037Gln)
n.447-2200C>G
n.2044-13472C>G
c.76129G>C (p.Glu25377Gln)
c.50023G>C (p.Glu16675Gln)
c.49882G>C (p.Glu16628Gln)
c.75925G>C (p.Glu25309Gln)
c.71323G>C (p.Glu23775Gln)
c.71320G>C (p.Glu23774Gln)
c.68362G>C (p.Glu22788Gln)
c.49978G>C (p.Glu16660Gln)
c.71473G>C (p.Glu23825Gln)
c.71470G>C (p.Glu23824Gln)
c.70903G>C (p.Glu23635Gln)
c.68245G>C (p.Glu22749Gln)
c.68164G>C (p.Glu22722Gln)
c.49927G>C (p.Glu16643Gln)
c.39781G>C (p.Glu13261Gln)
2g.178569100C>TCA349612850TTN,TTN-AS1c.69328G>A (p.Glu23110Lys)
c.50413G>A (p.Glu16805Lys)
c.50212G>A (p.Glu16738Lys)
c.49837G>A (p.Glu16613Lys)
c.77032G>A (p.Glu25678Lys)
c.72109G>A (p.Glu24037Lys)
n.447-2200C>T
n.2044-13472C>T
c.76129G>A (p.Glu25377Lys)
c.50023G>A (p.Glu16675Lys)
c.49882G>A (p.Glu16628Lys)
c.75925G>A (p.Glu25309Lys)
c.71323G>A (p.Glu23775Lys)
c.71320G>A (p.Glu23774Lys)
c.68362G>A (p.Glu22788Lys)
c.49978G>A (p.Glu16660Lys)
c.71473G>A (p.Glu23825Lys)
c.71470G>A (p.Glu23824Lys)
c.70903G>A (p.Glu23635Lys)
c.68245G>A (p.Glu22749Lys)
c.68164G>A (p.Glu22722Lys)
c.49927G>A (p.Glu16643Lys)
c.39781G>A (p.Glu13261Lys)
2g.178569101A=CA1310530972TTN,TTN-AS1c.69327T= (p.Ala23109=)
c.50412T= (p.Ala16804=)
c.50211T= (p.Ala16737=)
c.49836T= (p.Ala16612=)
c.77031T= (p.Ala25677=)
c.72108T= (p.Ala24036=)
n.447-2199A=
n.2044-13471A=
c.76128T= (p.Ala25376=)
c.50022T= (p.Ala16674=)
c.49881T= (p.Ala16627=)
c.75924T= (p.Ala25308=)
c.71322T= (p.Ala23774=)
c.71319T= (p.Ala23773=)
c.68361T= (p.Ala22787=)
c.49977T= (p.Ala16659=)
c.71472T= (p.Ala23824=)
c.71469T= (p.Ala23823=)
c.70902T= (p.Ala23634=)
c.68244T= (p.Ala22748=)
c.68163T= (p.Ala22721=)
c.49926T= (p.Ala16642=)
c.39780T= (p.Ala13260=)
2g.178569101A>CCA430253550TTN,TTN-AS1c.69327T>G (p.Ala23109=)
c.50412T>G (p.Ala16804=)
c.50211T>G (p.Ala16737=)
c.49836T>G (p.Ala16612=)
c.77031T>G (p.Ala25677=)
c.72108T>G (p.Ala24036=)
n.447-2199A>C
n.2044-13471A>C
c.76128T>G (p.Ala25376=)
c.50022T>G (p.Ala16674=)
c.49881T>G (p.Ala16627=)
c.75924T>G (p.Ala25308=)
c.71322T>G (p.Ala23774=)
c.71319T>G (p.Ala23773=)
c.68361T>G (p.Ala22787=)
c.49977T>G (p.Ala16659=)
c.71472T>G (p.Ala23824=)
c.71469T>G (p.Ala23823=)
c.70902T>G (p.Ala23634=)
c.68244T>G (p.Ala22748=)
c.68163T>G (p.Ala22721=)
c.49926T>G (p.Ala16642=)
c.39780T>G (p.Ala13260=)
2g.178569101A>GCA430253555TTN,TTN-AS1c.69327T>C (p.Ala23109=)
c.50412T>C (p.Ala16804=)
c.50211T>C (p.Ala16737=)
c.49836T>C (p.Ala16612=)
c.77031T>C (p.Ala25677=)
c.72108T>C (p.Ala24036=)
n.447-2199A>G
n.2044-13471A>G
c.76128T>C (p.Ala25376=)
c.50022T>C (p.Ala16674=)
c.49881T>C (p.Ala16627=)
c.75924T>C (p.Ala25308=)
c.71322T>C (p.Ala23774=)
c.71319T>C (p.Ala23773=)
c.68361T>C (p.Ala22787=)
c.49977T>C (p.Ala16659=)
c.71472T>C (p.Ala23824=)
c.71469T>C (p.Ala23823=)
c.70902T>C (p.Ala23634=)
c.68244T>C (p.Ala22748=)
c.68163T>C (p.Ala22721=)
c.49926T>C (p.Ala16642=)
c.39780T>C (p.Ala13260=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.178569101A>TCA430253562TTN,TTN-AS1c.69327T>A (p.Ala23109=)
c.50412T>A (p.Ala16804=)
c.50211T>A (p.Ala16737=)
c.49836T>A (p.Ala16612=)
c.77031T>A (p.Ala25677=)
c.72108T>A (p.Ala24036=)
n.447-2199A>T
n.2044-13471A>T
c.76128T>A (p.Ala25376=)
c.50022T>A (p.Ala16674=)
c.49881T>A (p.Ala16627=)
c.75924T>A (p.Ala25308=)
c.71322T>A (p.Ala23774=)
c.71319T>A (p.Ala23773=)
c.68361T>A (p.Ala22787=)
c.49977T>A (p.Ala16659=)
c.71472T>A (p.Ala23824=)
c.71469T>A (p.Ala23823=)
c.70902T>A (p.Ala23634=)
c.68244T>A (p.Ala22748=)
c.68163T>A (p.Ala22721=)
c.49926T>A (p.Ala16642=)
c.39780T>A (p.Ala13260=)
2g.178569102G>ACA349612853TTN,TTN-AS1c.69326C>T (p.Ala23109Val)
c.50411C>T (p.Ala16804Val)
c.50210C>T (p.Ala16737Val)
c.49835C>T (p.Ala16612Val)
c.77030C>T (p.Ala25677Val)
c.72107C>T (p.Ala24036Val)
n.447-2198G>A
n.2044-13470G>A
c.76127C>T (p.Ala25376Val)
c.50021C>T (p.Ala16674Val)
c.49880C>T (p.Ala16627Val)
c.75923C>T (p.Ala25308Val)
c.71321C>T (p.Ala23774Val)
c.71318C>T (p.Ala23773Val)
c.68360C>T (p.Ala22787Val)
c.49976C>T (p.Ala16659Val)
c.71471C>T (p.Ala23824Val)
c.71468C>T (p.Ala23823Val)
c.70901C>T (p.Ala23634Val)
c.68243C>T (p.Ala22748Val)
c.68162C>T (p.Ala22721Val)
c.49925C>T (p.Ala16642Val)
c.39779C>T (p.Ala13260Val)
 gnomAD v4
2g.178569102G>CCA349612854TTN,TTN-AS1c.69326C>G (p.Ala23109Gly)
c.50411C>G (p.Ala16804Gly)
c.50210C>G (p.Ala16737Gly)
c.49835C>G (p.Ala16612Gly)
c.77030C>G (p.Ala25677Gly)
c.72107C>G (p.Ala24036Gly)
n.447-2198G>C
n.2044-13470G>C
c.76127C>G (p.Ala25376Gly)
c.50021C>G (p.Ala16674Gly)
c.49880C>G (p.Ala16627Gly)
c.75923C>G (p.Ala25308Gly)
c.71321C>G (p.Ala23774Gly)
c.71318C>G (p.Ala23773Gly)
c.68360C>G (p.Ala22787Gly)
c.49976C>G (p.Ala16659Gly)
c.71471C>G (p.Ala23824Gly)
c.71468C>G (p.Ala23823Gly)
c.70901C>G (p.Ala23634Gly)
c.68243C>G (p.Ala22748Gly)
c.68162C>G (p.Ala22721Gly)
c.49925C>G (p.Ala16642Gly)
c.39779C>G (p.Ala13260Gly)

Number of alleles fetched