Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.178613930A>CCA430272937TTN,TTN-AS1c.41649T>G (p.Pro13883=)
c.22734T>G (p.Pro7578=)
c.22533T>G (p.Pro7511=)
c.22158T>G (p.Pro7386=)
c.49353T>G (p.Pro16451=)
c.44430T>G (p.Pro14810=)
n.783-105A>C
c.48450T>G (p.Pro16150=)
c.22344T>G (p.Pro7448=)
c.22203T>G (p.Pro7401=)
c.48246T>G (p.Pro16082=)
c.43644T>G (p.Pro14548=)
c.43641T>G (p.Pro14547=)
c.40683T>G (p.Pro13561=)
c.22299T>G (p.Pro7433=)
c.43794T>G (p.Pro14598=)
c.43791T>G (p.Pro14597=)
c.43224T>G (p.Pro14408=)
c.40566T>G (p.Pro13522=)
c.40485T>G (p.Pro13495=)
c.22248T>G (p.Pro7416=)
c.12102T>G (p.Pro4034=)
2g.178613930A>GCA430272935TTN,TTN-AS1c.41649T>C (p.Pro13883=)
c.22734T>C (p.Pro7578=)
c.22533T>C (p.Pro7511=)
c.22158T>C (p.Pro7386=)
c.49353T>C (p.Pro16451=)
c.44430T>C (p.Pro14810=)
n.783-105A>G
c.48450T>C (p.Pro16150=)
c.22344T>C (p.Pro7448=)
c.22203T>C (p.Pro7401=)
c.48246T>C (p.Pro16082=)
c.43644T>C (p.Pro14548=)
c.43641T>C (p.Pro14547=)
c.40683T>C (p.Pro13561=)
c.22299T>C (p.Pro7433=)
c.43794T>C (p.Pro14598=)
c.43791T>C (p.Pro14597=)
c.43224T>C (p.Pro14408=)
c.40566T>C (p.Pro13522=)
c.40485T>C (p.Pro13495=)
c.22248T>C (p.Pro7416=)
c.12102T>C (p.Pro4034=)
2g.178613930A>TCA430272936TTN,TTN-AS1c.41649T>A (p.Pro13883=)
c.22734T>A (p.Pro7578=)
c.22533T>A (p.Pro7511=)
c.22158T>A (p.Pro7386=)
c.49353T>A (p.Pro16451=)
c.44430T>A (p.Pro14810=)
n.783-105A>T
c.48450T>A (p.Pro16150=)
c.22344T>A (p.Pro7448=)
c.22203T>A (p.Pro7401=)
c.48246T>A (p.Pro16082=)
c.43644T>A (p.Pro14548=)
c.43641T>A (p.Pro14547=)
c.40683T>A (p.Pro13561=)
c.22299T>A (p.Pro7433=)
c.43794T>A (p.Pro14598=)
c.43791T>A (p.Pro14597=)
c.43224T>A (p.Pro14408=)
c.40566T>A (p.Pro13522=)
c.40485T>A (p.Pro13495=)
c.22248T>A (p.Pro7416=)
c.12102T>A (p.Pro4034=)
2g.178613931G>ACA349605008TTN,TTN-AS1c.41648C>T (p.Pro13883Leu)
c.22733C>T (p.Pro7578Leu)
c.22532C>T (p.Pro7511Leu)
c.22157C>T (p.Pro7386Leu)
c.49352C>T (p.Pro16451Leu)
c.44429C>T (p.Pro14810Leu)
n.783-104G>A
c.48449C>T (p.Pro16150Leu)
c.22343C>T (p.Pro7448Leu)
c.22202C>T (p.Pro7401Leu)
c.48245C>T (p.Pro16082Leu)
c.43643C>T (p.Pro14548Leu)
c.43640C>T (p.Pro14547Leu)
c.40682C>T (p.Pro13561Leu)
c.22298C>T (p.Pro7433Leu)
c.43793C>T (p.Pro14598Leu)
c.43790C>T (p.Pro14597Leu)
c.43223C>T (p.Pro14408Leu)
c.40565C>T (p.Pro13522Leu)
c.40484C>T (p.Pro13495Leu)
c.22247C>T (p.Pro7416Leu)
c.12101C>T (p.Pro4034Leu)
 gnomAD v4
2g.178613931G>CCA349605018TTN,TTN-AS1c.41648C>G (p.Pro13883Arg)
c.22733C>G (p.Pro7578Arg)
c.22532C>G (p.Pro7511Arg)
c.22157C>G (p.Pro7386Arg)
c.49352C>G (p.Pro16451Arg)
c.44429C>G (p.Pro14810Arg)
n.783-104G>C
c.48449C>G (p.Pro16150Arg)
c.22343C>G (p.Pro7448Arg)
c.22202C>G (p.Pro7401Arg)
c.48245C>G (p.Pro16082Arg)
c.43643C>G (p.Pro14548Arg)
c.43640C>G (p.Pro14547Arg)
c.40682C>G (p.Pro13561Arg)
c.22298C>G (p.Pro7433Arg)
c.43793C>G (p.Pro14598Arg)
c.43790C>G (p.Pro14597Arg)
c.43223C>G (p.Pro14408Arg)
c.40565C>G (p.Pro13522Arg)
c.40484C>G (p.Pro13495Arg)
c.22247C>G (p.Pro7416Arg)
c.12101C>G (p.Pro4034Arg)
2g.178613931G>TCA349605021TTN,TTN-AS1c.41648C>A (p.Pro13883His)
c.22733C>A (p.Pro7578His)
c.22532C>A (p.Pro7511His)
c.22157C>A (p.Pro7386His)
c.49352C>A (p.Pro16451His)
c.44429C>A (p.Pro14810His)
n.783-104G>T
c.48449C>A (p.Pro16150His)
c.22343C>A (p.Pro7448His)
c.22202C>A (p.Pro7401His)
c.48245C>A (p.Pro16082His)
c.43643C>A (p.Pro14548His)
c.43640C>A (p.Pro14547His)
c.40682C>A (p.Pro13561His)
c.22298C>A (p.Pro7433His)
c.43793C>A (p.Pro14598His)
c.43790C>A (p.Pro14597His)
c.43223C>A (p.Pro14408His)
c.40565C>A (p.Pro13522His)
c.40484C>A (p.Pro13495His)
c.22247C>A (p.Pro7416His)
c.12101C>A (p.Pro4034His)
2g.178613932G>ACA349605024TTN,TTN-AS1c.41647C>T (p.Pro13883Ser)
c.22732C>T (p.Pro7578Ser)
c.22531C>T (p.Pro7511Ser)
c.22156C>T (p.Pro7386Ser)
c.49351C>T (p.Pro16451Ser)
c.44428C>T (p.Pro14810Ser)
n.783-103G>A
c.48448C>T (p.Pro16150Ser)
c.22342C>T (p.Pro7448Ser)
c.22201C>T (p.Pro7401Ser)
c.48244C>T (p.Pro16082Ser)
c.43642C>T (p.Pro14548Ser)
c.43639C>T (p.Pro14547Ser)
c.40681C>T (p.Pro13561Ser)
c.22297C>T (p.Pro7433Ser)
c.43792C>T (p.Pro14598Ser)
c.43789C>T (p.Pro14597Ser)
c.43222C>T (p.Pro14408Ser)
c.40564C>T (p.Pro13522Ser)
c.40483C>T (p.Pro13495Ser)
c.22246C>T (p.Pro7416Ser)
c.12100C>T (p.Pro4034Ser)
 dbSNP gnomAD v4
2g.178613932G>CCA349605025TTN,TTN-AS1c.41647C>G (p.Pro13883Ala)
c.22732C>G (p.Pro7578Ala)
c.22531C>G (p.Pro7511Ala)
c.22156C>G (p.Pro7386Ala)
c.49351C>G (p.Pro16451Ala)
c.44428C>G (p.Pro14810Ala)
n.783-103G>C
c.48448C>G (p.Pro16150Ala)
c.22342C>G (p.Pro7448Ala)
c.22201C>G (p.Pro7401Ala)
c.48244C>G (p.Pro16082Ala)
c.43642C>G (p.Pro14548Ala)
c.43639C>G (p.Pro14547Ala)
c.40681C>G (p.Pro13561Ala)
c.22297C>G (p.Pro7433Ala)
c.43792C>G (p.Pro14598Ala)
c.43789C>G (p.Pro14597Ala)
c.43222C>G (p.Pro14408Ala)
c.40564C>G (p.Pro13522Ala)
c.40483C>G (p.Pro13495Ala)
c.22246C>G (p.Pro7416Ala)
c.12100C>G (p.Pro4034Ala)
2g.178613932G=CA1310549135TTN,TTN-AS1c.41647C= (p.Pro13883=)
c.22732C= (p.Pro7578=)
c.22531C= (p.Pro7511=)
c.22156C= (p.Pro7386=)
c.49351C= (p.Pro16451=)
c.44428C= (p.Pro14810=)
n.783-103G=
c.48448C= (p.Pro16150=)
c.22342C= (p.Pro7448=)
c.22201C= (p.Pro7401=)
c.48244C= (p.Pro16082=)
c.43642C= (p.Pro14548=)
c.43639C= (p.Pro14547=)
c.40681C= (p.Pro13561=)
c.22297C= (p.Pro7433=)
c.43792C= (p.Pro14598=)
c.43789C= (p.Pro14597=)
c.43222C= (p.Pro14408=)
c.40564C= (p.Pro13522=)
c.40483C= (p.Pro13495=)
c.22246C= (p.Pro7416=)
c.12100C= (p.Pro4034=)
2g.178613932G>TCA349605026TTN,TTN-AS1c.41647C>A (p.Pro13883Thr)
c.22732C>A (p.Pro7578Thr)
c.22531C>A (p.Pro7511Thr)
c.22156C>A (p.Pro7386Thr)
c.49351C>A (p.Pro16451Thr)
c.44428C>A (p.Pro14810Thr)
n.783-103G>T
c.48448C>A (p.Pro16150Thr)
c.22342C>A (p.Pro7448Thr)
c.22201C>A (p.Pro7401Thr)
c.48244C>A (p.Pro16082Thr)
c.43642C>A (p.Pro14548Thr)
c.43639C>A (p.Pro14547Thr)
c.40681C>A (p.Pro13561Thr)
c.22297C>A (p.Pro7433Thr)
c.43792C>A (p.Pro14598Thr)
c.43789C>A (p.Pro14597Thr)
c.43222C>A (p.Pro14408Thr)
c.40564C>A (p.Pro13522Thr)
c.40483C>A (p.Pro13495Thr)
c.22246C>A (p.Pro7416Thr)
c.12100C>A (p.Pro4034Thr)
2g.178613933T>ACA430272939TTN,TTN-AS1c.41646A>T (p.Pro13882=)
c.22731A>T (p.Pro7577=)
c.22530A>T (p.Pro7510=)
c.22155A>T (p.Pro7385=)
c.49350A>T (p.Pro16450=)
c.44427A>T (p.Pro14809=)
n.783-102T>A
c.48447A>T (p.Pro16149=)
c.22341A>T (p.Pro7447=)
c.22200A>T (p.Pro7400=)
c.48243A>T (p.Pro16081=)
c.43641A>T (p.Pro14547=)
c.43638A>T (p.Pro14546=)
c.40680A>T (p.Pro13560=)
c.22296A>T (p.Pro7432=)
c.43791A>T (p.Pro14597=)
c.43788A>T (p.Pro14596=)
c.43221A>T (p.Pro14407=)
c.40563A>T (p.Pro13521=)
c.40482A>T (p.Pro13494=)
c.22245A>T (p.Pro7415=)
c.12099A>T (p.Pro4033=)
 ClinVar dbSNP
2g.178613933T>CCA430272941TTN,TTN-AS1c.41646A>G (p.Pro13882=)
c.22731A>G (p.Pro7577=)
c.22530A>G (p.Pro7510=)
c.22155A>G (p.Pro7385=)
c.49350A>G (p.Pro16450=)
c.44427A>G (p.Pro14809=)
n.783-102T>C
c.48447A>G (p.Pro16149=)
c.22341A>G (p.Pro7447=)
c.22200A>G (p.Pro7400=)
c.48243A>G (p.Pro16081=)
c.43641A>G (p.Pro14547=)
c.43638A>G (p.Pro14546=)
c.40680A>G (p.Pro13560=)
c.22296A>G (p.Pro7432=)
c.43791A>G (p.Pro14597=)
c.43788A>G (p.Pro14596=)
c.43221A>G (p.Pro14407=)
c.40563A>G (p.Pro13521=)
c.40482A>G (p.Pro13494=)
c.22245A>G (p.Pro7415=)
c.12099A>G (p.Pro4033=)
2g.178613933T>GCA430272942TTN,TTN-AS1c.41646A>C (p.Pro13882=)
c.22731A>C (p.Pro7577=)
c.22530A>C (p.Pro7510=)
c.22155A>C (p.Pro7385=)
c.49350A>C (p.Pro16450=)
c.44427A>C (p.Pro14809=)
n.783-102T>G
c.48447A>C (p.Pro16149=)
c.22341A>C (p.Pro7447=)
c.22200A>C (p.Pro7400=)
c.48243A>C (p.Pro16081=)
c.43641A>C (p.Pro14547=)
c.43638A>C (p.Pro14546=)
c.40680A>C (p.Pro13560=)
c.22296A>C (p.Pro7432=)
c.43791A>C (p.Pro14597=)
c.43788A>C (p.Pro14596=)
c.43221A>C (p.Pro14407=)
c.40563A>C (p.Pro13521=)
c.40482A>C (p.Pro13494=)
c.22245A>C (p.Pro7415=)
c.12099A>C (p.Pro4033=)
2g.178613933T=CA1310549136TTN,TTN-AS1c.41646A= (p.Pro13882=)
c.22731A= (p.Pro7577=)
c.22530A= (p.Pro7510=)
c.22155A= (p.Pro7385=)
c.49350A= (p.Pro16450=)
c.44427A= (p.Pro14809=)
n.783-102T=
c.48447A= (p.Pro16149=)
c.22341A= (p.Pro7447=)
c.22200A= (p.Pro7400=)
c.48243A= (p.Pro16081=)
c.43641A= (p.Pro14547=)
c.43638A= (p.Pro14546=)
c.40680A= (p.Pro13560=)
c.22296A= (p.Pro7432=)
c.43791A= (p.Pro14597=)
c.43788A= (p.Pro14596=)
c.43221A= (p.Pro14407=)
c.40563A= (p.Pro13521=)
c.40482A= (p.Pro13494=)
c.22245A= (p.Pro7415=)
c.12099A= (p.Pro4033=)
2g.178613934G>ACA349605027TTN,TTN-AS1c.41645C>T (p.Pro13882Leu)
c.22730C>T (p.Pro7577Leu)
c.22529C>T (p.Pro7510Leu)
c.22154C>T (p.Pro7385Leu)
c.49349C>T (p.Pro16450Leu)
c.44426C>T (p.Pro14809Leu)
n.783-101G>A
c.48446C>T (p.Pro16149Leu)
c.22340C>T (p.Pro7447Leu)
c.22199C>T (p.Pro7400Leu)
c.48242C>T (p.Pro16081Leu)
c.43640C>T (p.Pro14547Leu)
c.43637C>T (p.Pro14546Leu)
c.40679C>T (p.Pro13560Leu)
c.22295C>T (p.Pro7432Leu)
c.43790C>T (p.Pro14597Leu)
c.43787C>T (p.Pro14596Leu)
c.43220C>T (p.Pro14407Leu)
c.40562C>T (p.Pro13521Leu)
c.40481C>T (p.Pro13494Leu)
c.22244C>T (p.Pro7415Leu)
c.12098C>T (p.Pro4033Leu)
 dbSNP
2g.178613934G>CCA349605029TTN,TTN-AS1c.41645C>G (p.Pro13882Arg)
c.22730C>G (p.Pro7577Arg)
c.22529C>G (p.Pro7510Arg)
c.22154C>G (p.Pro7385Arg)
c.49349C>G (p.Pro16450Arg)
c.44426C>G (p.Pro14809Arg)
n.783-101G>C
c.48446C>G (p.Pro16149Arg)
c.22340C>G (p.Pro7447Arg)
c.22199C>G (p.Pro7400Arg)
c.48242C>G (p.Pro16081Arg)
c.43640C>G (p.Pro14547Arg)
c.43637C>G (p.Pro14546Arg)
c.40679C>G (p.Pro13560Arg)
c.22295C>G (p.Pro7432Arg)
c.43790C>G (p.Pro14597Arg)
c.43787C>G (p.Pro14596Arg)
c.43220C>G (p.Pro14407Arg)
c.40562C>G (p.Pro13521Arg)
c.40481C>G (p.Pro13494Arg)
c.22244C>G (p.Pro7415Arg)
c.12098C>G (p.Pro4033Arg)
2g.178613934G=CA1310549137TTN,TTN-AS1c.41645C= (p.Pro13882=)
c.22730C= (p.Pro7577=)
c.22529C= (p.Pro7510=)
c.22154C= (p.Pro7385=)
c.49349C= (p.Pro16450=)
c.44426C= (p.Pro14809=)
n.783-101G=
c.48446C= (p.Pro16149=)
c.22340C= (p.Pro7447=)
c.22199C= (p.Pro7400=)
c.48242C= (p.Pro16081=)
c.43640C= (p.Pro14547=)
c.43637C= (p.Pro14546=)
c.40679C= (p.Pro13560=)
c.22295C= (p.Pro7432=)
c.43790C= (p.Pro14597=)
c.43787C= (p.Pro14596=)
c.43220C= (p.Pro14407=)
c.40562C= (p.Pro13521=)
c.40481C= (p.Pro13494=)
c.22244C= (p.Pro7415=)
c.12098C= (p.Pro4033=)
2g.178613934G>TCA349605031TTN,TTN-AS1c.41645C>A (p.Pro13882Gln)
c.22730C>A (p.Pro7577Gln)
c.22529C>A (p.Pro7510Gln)
c.22154C>A (p.Pro7385Gln)
c.49349C>A (p.Pro16450Gln)
c.44426C>A (p.Pro14809Gln)
n.783-101G>T
c.48446C>A (p.Pro16149Gln)
c.22340C>A (p.Pro7447Gln)
c.22199C>A (p.Pro7400Gln)
c.48242C>A (p.Pro16081Gln)
c.43640C>A (p.Pro14547Gln)
c.43637C>A (p.Pro14546Gln)
c.40679C>A (p.Pro13560Gln)
c.22295C>A (p.Pro7432Gln)
c.43790C>A (p.Pro14597Gln)
c.43787C>A (p.Pro14596Gln)
c.43220C>A (p.Pro14407Gln)
c.40562C>A (p.Pro13521Gln)
c.40481C>A (p.Pro13494Gln)
c.22244C>A (p.Pro7415Gln)
c.12098C>A (p.Pro4033Gln)
2g.178613935G>ACA349605034TTN,TTN-AS1c.41644C>T (p.Pro13882Ser)
c.22729C>T (p.Pro7577Ser)
c.22528C>T (p.Pro7510Ser)
c.22153C>T (p.Pro7385Ser)
c.49348C>T (p.Pro16450Ser)
c.44425C>T (p.Pro14809Ser)
n.783-100G>A
c.48445C>T (p.Pro16149Ser)
c.22339C>T (p.Pro7447Ser)
c.22198C>T (p.Pro7400Ser)
c.48241C>T (p.Pro16081Ser)
c.43639C>T (p.Pro14547Ser)
c.43636C>T (p.Pro14546Ser)
c.40678C>T (p.Pro13560Ser)
c.22294C>T (p.Pro7432Ser)
c.43789C>T (p.Pro14597Ser)
c.43786C>T (p.Pro14596Ser)
c.43219C>T (p.Pro14407Ser)
c.40561C>T (p.Pro13521Ser)
c.40480C>T (p.Pro13494Ser)
c.22243C>T (p.Pro7415Ser)
c.12097C>T (p.Pro4033Ser)
 dbSNP
2g.178613935G>CCA349605037TTN,TTN-AS1c.41644C>G (p.Pro13882Ala)
c.22729C>G (p.Pro7577Ala)
c.22528C>G (p.Pro7510Ala)
c.22153C>G (p.Pro7385Ala)
c.49348C>G (p.Pro16450Ala)
c.44425C>G (p.Pro14809Ala)
n.783-100G>C
c.48445C>G (p.Pro16149Ala)
c.22339C>G (p.Pro7447Ala)
c.22198C>G (p.Pro7400Ala)
c.48241C>G (p.Pro16081Ala)
c.43639C>G (p.Pro14547Ala)
c.43636C>G (p.Pro14546Ala)
c.40678C>G (p.Pro13560Ala)
c.22294C>G (p.Pro7432Ala)
c.43789C>G (p.Pro14597Ala)
c.43786C>G (p.Pro14596Ala)
c.43219C>G (p.Pro14407Ala)
c.40561C>G (p.Pro13521Ala)
c.40480C>G (p.Pro13494Ala)
c.22243C>G (p.Pro7415Ala)
c.12097C>G (p.Pro4033Ala)
2g.178613935G=CA1310549138TTN,TTN-AS1c.41644C= (p.Pro13882=)
c.22729C= (p.Pro7577=)
c.22528C= (p.Pro7510=)
c.22153C= (p.Pro7385=)
c.49348C= (p.Pro16450=)
c.44425C= (p.Pro14809=)
n.783-100G=
c.48445C= (p.Pro16149=)
c.22339C= (p.Pro7447=)
c.22198C= (p.Pro7400=)
c.48241C= (p.Pro16081=)
c.43639C= (p.Pro14547=)
c.43636C= (p.Pro14546=)
c.40678C= (p.Pro13560=)
c.22294C= (p.Pro7432=)
c.43789C= (p.Pro14597=)
c.43786C= (p.Pro14596=)
c.43219C= (p.Pro14407=)
c.40561C= (p.Pro13521=)
c.40480C= (p.Pro13494=)
c.22243C= (p.Pro7415=)
c.12097C= (p.Pro4033=)
2g.178613935G>TCA349605044TTN,TTN-AS1c.41644C>A (p.Pro13882Thr)
c.22729C>A (p.Pro7577Thr)
c.22528C>A (p.Pro7510Thr)
c.22153C>A (p.Pro7385Thr)
c.49348C>A (p.Pro16450Thr)
c.44425C>A (p.Pro14809Thr)
n.783-100G>T
c.48445C>A (p.Pro16149Thr)
c.22339C>A (p.Pro7447Thr)
c.22198C>A (p.Pro7400Thr)
c.48241C>A (p.Pro16081Thr)
c.43639C>A (p.Pro14547Thr)
c.43636C>A (p.Pro14546Thr)
c.40678C>A (p.Pro13560Thr)
c.22294C>A (p.Pro7432Thr)
c.43789C>A (p.Pro14597Thr)
c.43786C>A (p.Pro14596Thr)
c.43219C>A (p.Pro14407Thr)
c.40561C>A (p.Pro13521Thr)
c.40480C>A (p.Pro13494Thr)
c.22243C>A (p.Pro7415Thr)
c.12097C>A (p.Pro4033Thr)
2g.178613936A=CA1310549139TTN,TTN-AS1c.41643T= (p.Asp13881=)
c.22728T= (p.Asp7576=)
c.22527T= (p.Asp7509=)
c.22152T= (p.Asp7384=)
c.49347T= (p.Asp16449=)
c.44424T= (p.Asp14808=)
n.783-99A=
c.48444T= (p.Asp16148=)
c.22338T= (p.Asp7446=)
c.22197T= (p.Asp7399=)
c.48240T= (p.Asp16080=)
c.43638T= (p.Asp14546=)
c.43635T= (p.Asp14545=)
c.40677T= (p.Asp13559=)
c.22293T= (p.Asp7431=)
c.43788T= (p.Asp14596=)
c.43785T= (p.Asp14595=)
c.43218T= (p.Asp14406=)
c.40560T= (p.Asp13520=)
c.40479T= (p.Asp13493=)
c.22242T= (p.Asp7414=)
c.12096T= (p.Asp4032=)
2g.178613936A>CCA349605049TTN,TTN-AS1c.41643T>G (p.Asp13881Glu)
c.22728T>G (p.Asp7576Glu)
c.22527T>G (p.Asp7509Glu)
c.22152T>G (p.Asp7384Glu)
c.49347T>G (p.Asp16449Glu)
c.44424T>G (p.Asp14808Glu)
n.783-99A>C
c.48444T>G (p.Asp16148Glu)
c.22338T>G (p.Asp7446Glu)
c.22197T>G (p.Asp7399Glu)
c.48240T>G (p.Asp16080Glu)
c.43638T>G (p.Asp14546Glu)
c.43635T>G (p.Asp14545Glu)
c.40677T>G (p.Asp13559Glu)
c.22293T>G (p.Asp7431Glu)
c.43788T>G (p.Asp14596Glu)
c.43785T>G (p.Asp14595Glu)
c.43218T>G (p.Asp14406Glu)
c.40560T>G (p.Asp13520Glu)
c.40479T>G (p.Asp13493Glu)
c.22242T>G (p.Asp7414Glu)
c.12096T>G (p.Asp4032Glu)
2g.178613936A>GCA1994614TTN,TTN-AS1c.41643T>C (p.Asp13881=)
c.22728T>C (p.Asp7576=)
c.22527T>C (p.Asp7509=)
c.22152T>C (p.Asp7384=)
c.49347T>C (p.Asp16449=)
c.44424T>C (p.Asp14808=)
n.783-99A>G
c.48444T>C (p.Asp16148=)
c.22338T>C (p.Asp7446=)
c.22197T>C (p.Asp7399=)
c.48240T>C (p.Asp16080=)
c.43638T>C (p.Asp14546=)
c.43635T>C (p.Asp14545=)
c.40677T>C (p.Asp13559=)
c.22293T>C (p.Asp7431=)
c.43788T>C (p.Asp14596=)
c.43785T>C (p.Asp14595=)
c.43218T>C (p.Asp14406=)
c.40560T>C (p.Asp13520=)
c.40479T>C (p.Asp13493=)
c.22242T>C (p.Asp7414=)
c.12096T>C (p.Asp4032=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.178613936A>TCA349605047TTN,TTN-AS1c.41643T>A (p.Asp13881Glu)
c.22728T>A (p.Asp7576Glu)
c.22527T>A (p.Asp7509Glu)
c.22152T>A (p.Asp7384Glu)
c.49347T>A (p.Asp16449Glu)
c.44424T>A (p.Asp14808Glu)
n.783-99A>T
c.48444T>A (p.Asp16148Glu)
c.22338T>A (p.Asp7446Glu)
c.22197T>A (p.Asp7399Glu)
c.48240T>A (p.Asp16080Glu)
c.43638T>A (p.Asp14546Glu)
c.43635T>A (p.Asp14545Glu)
c.40677T>A (p.Asp13559Glu)
c.22293T>A (p.Asp7431Glu)
c.43788T>A (p.Asp14596Glu)
c.43785T>A (p.Asp14595Glu)
c.43218T>A (p.Asp14406Glu)
c.40560T>A (p.Asp13520Glu)
c.40479T>A (p.Asp13493Glu)
c.22242T>A (p.Asp7414Glu)
c.12096T>A (p.Asp4032Glu)
 gnomAD v4
2g.178613937T>ACA349605057TTN,TTN-AS1c.41642A>T (p.Asp13881Val)
c.22727A>T (p.Asp7576Val)
c.22526A>T (p.Asp7509Val)
c.22151A>T (p.Asp7384Val)
c.49346A>T (p.Asp16449Val)
c.44423A>T (p.Asp14808Val)
n.783-98T>A
c.48443A>T (p.Asp16148Val)
c.22337A>T (p.Asp7446Val)
c.22196A>T (p.Asp7399Val)
c.48239A>T (p.Asp16080Val)
c.43637A>T (p.Asp14546Val)
c.43634A>T (p.Asp14545Val)
c.40676A>T (p.Asp13559Val)
c.22292A>T (p.Asp7431Val)
c.43787A>T (p.Asp14596Val)
c.43784A>T (p.Asp14595Val)
c.43217A>T (p.Asp14406Val)
c.40559A>T (p.Asp13520Val)
c.40478A>T (p.Asp13493Val)
c.22241A>T (p.Asp7414Val)
c.12095A>T (p.Asp4032Val)
2g.178613937T>CCA349605060TTN,TTN-AS1c.41642A>G (p.Asp13881Gly)
c.22727A>G (p.Asp7576Gly)
c.22526A>G (p.Asp7509Gly)
c.22151A>G (p.Asp7384Gly)
c.49346A>G (p.Asp16449Gly)
c.44423A>G (p.Asp14808Gly)
n.783-98T>C
c.48443A>G (p.Asp16148Gly)
c.22337A>G (p.Asp7446Gly)
c.22196A>G (p.Asp7399Gly)
c.48239A>G (p.Asp16080Gly)
c.43637A>G (p.Asp14546Gly)
c.43634A>G (p.Asp14545Gly)
c.40676A>G (p.Asp13559Gly)
c.22292A>G (p.Asp7431Gly)
c.43787A>G (p.Asp14596Gly)
c.43784A>G (p.Asp14595Gly)
c.43217A>G (p.Asp14406Gly)
c.40559A>G (p.Asp13520Gly)
c.40478A>G (p.Asp13493Gly)
c.22241A>G (p.Asp7414Gly)
c.12095A>G (p.Asp4032Gly)
2g.178613937T>GCA349605061TTN,TTN-AS1c.41642A>C (p.Asp13881Ala)
c.22727A>C (p.Asp7576Ala)
c.22526A>C (p.Asp7509Ala)
c.22151A>C (p.Asp7384Ala)
c.49346A>C (p.Asp16449Ala)
c.44423A>C (p.Asp14808Ala)
n.783-98T>G
c.48443A>C (p.Asp16148Ala)
c.22337A>C (p.Asp7446Ala)
c.22196A>C (p.Asp7399Ala)
c.48239A>C (p.Asp16080Ala)
c.43637A>C (p.Asp14546Ala)
c.43634A>C (p.Asp14545Ala)
c.40676A>C (p.Asp13559Ala)
c.22292A>C (p.Asp7431Ala)
c.43787A>C (p.Asp14596Ala)
c.43784A>C (p.Asp14595Ala)
c.43217A>C (p.Asp14406Ala)
c.40559A>C (p.Asp13520Ala)
c.40478A>C (p.Asp13493Ala)
c.22241A>C (p.Asp7414Ala)
c.12095A>C (p.Asp4032Ala)
2g.178613938C>ACA349605063TTN,TTN-AS1c.41642-1G>T (n.41642-1G>T)
c.22727-1G>T (n.22727-1G>T)
c.22526-1G>T (n.22526-1G>T)
c.22151-1G>T (n.22151-1G>T)
c.49346-1G>T (n.49346-1G>T)
c.44423-1G>T (n.44423-1G>T)
n.783-97C>A
c.48443-1G>T (n.48443-1G>T)
c.22337-1G>T (n.22337-1G>T)
c.22196-1G>T (n.22196-1G>T)
c.48239-1G>T (n.48239-1G>T)
c.43637-1G>T (n.43637-1G>T)
c.43634-1G>T (n.43634-1G>T)
c.40676-1G>T (n.40676-1G>T)
c.22292-1G>T (n.22292-1G>T)
c.43787-1G>T (n.43787-1G>T)
c.43784-1G>T (n.43784-1G>T)
c.43217-1G>T (n.43217-1G>T)
c.40559-1G>T (n.40559-1G>T)
c.40478-1G>T (n.40478-1G>T)
c.22241-1G>T (n.22241-1G>T)
c.12095-1G>T (n.12095-1G>T)
 COSMIC COSMIC COSMIC COSMIC
2g.178613938C=CA1310549140TTN,TTN-AS1c.41642-1G= (n.41642-1G=)
c.22727-1G= (n.22727-1G=)
c.22526-1G= (n.22526-1G=)
c.22151-1G= (n.22151-1G=)
c.49346-1G= (n.49346-1G=)
c.44423-1G= (n.44423-1G=)
n.783-97C=
c.48443-1G= (n.48443-1G=)
c.22337-1G= (n.22337-1G=)
c.22196-1G= (n.22196-1G=)
c.48239-1G= (n.48239-1G=)
c.43637-1G= (n.43637-1G=)
c.43634-1G= (n.43634-1G=)
c.40676-1G= (n.40676-1G=)
c.22292-1G= (n.22292-1G=)
c.43787-1G= (n.43787-1G=)
c.43784-1G= (n.43784-1G=)
c.43217-1G= (n.43217-1G=)
c.40559-1G= (n.40559-1G=)
c.40478-1G= (n.40478-1G=)
c.22241-1G= (n.22241-1G=)
c.12095-1G= (n.12095-1G=)
2g.178613938C>GCA349605066TTN,TTN-AS1c.41642-1G>C (n.41642-1G>C)
c.22727-1G>C (n.22727-1G>C)
c.22526-1G>C (n.22526-1G>C)
c.22151-1G>C (n.22151-1G>C)
c.49346-1G>C (n.49346-1G>C)
c.44423-1G>C (n.44423-1G>C)
n.783-97C>G
c.48443-1G>C (n.48443-1G>C)
c.22337-1G>C (n.22337-1G>C)
c.22196-1G>C (n.22196-1G>C)
c.48239-1G>C (n.48239-1G>C)
c.43637-1G>C (n.43637-1G>C)
c.43634-1G>C (n.43634-1G>C)
c.40676-1G>C (n.40676-1G>C)
c.22292-1G>C (n.22292-1G>C)
c.43787-1G>C (n.43787-1G>C)
c.43784-1G>C (n.43784-1G>C)
c.43217-1G>C (n.43217-1G>C)
c.40559-1G>C (n.40559-1G>C)
c.40478-1G>C (n.40478-1G>C)
c.22241-1G>C (n.22241-1G>C)
c.12095-1G>C (n.12095-1G>C)
2g.178613938C>TCA353085TTN,TTN-AS1c.41642-1G>A (n.41642-1G>A)
c.22727-1G>A (n.22727-1G>A)
c.22526-1G>A (n.22526-1G>A)
c.22151-1G>A (n.22151-1G>A)
c.49346-1G>A (n.49346-1G>A)
c.44423-1G>A (n.44423-1G>A)
n.783-97C>T
c.48443-1G>A (n.48443-1G>A)
c.22337-1G>A (n.22337-1G>A)
c.22196-1G>A (n.22196-1G>A)
c.48239-1G>A (n.48239-1G>A)
c.43637-1G>A (n.43637-1G>A)
c.43634-1G>A (n.43634-1G>A)
c.40676-1G>A (n.40676-1G>A)
c.22292-1G>A (n.22292-1G>A)
c.43787-1G>A (n.43787-1G>A)
c.43784-1G>A (n.43784-1G>A)
c.43217-1G>A (n.43217-1G>A)
c.40559-1G>A (n.40559-1G>A)
c.40478-1G>A (n.40478-1G>A)
c.22241-1G>A (n.22241-1G>A)
c.12095-1G>A (n.12095-1G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.178613939T>ACA309231TTN,TTN-AS1c.41642-2A>T (n.41642-2A>T)
c.22727-2A>T (n.22727-2A>T)
c.22526-2A>T (n.22526-2A>T)
c.22151-2A>T (n.22151-2A>T)
c.49346-2A>T (n.49346-2A>T)
c.44423-2A>T (n.44423-2A>T)
n.783-96T>A
c.48443-2A>T (n.48443-2A>T)
c.22337-2A>T (n.22337-2A>T)
c.22196-2A>T (n.22196-2A>T)
c.48239-2A>T (n.48239-2A>T)
c.43637-2A>T (n.43637-2A>T)
c.43634-2A>T (n.43634-2A>T)
c.40676-2A>T (n.40676-2A>T)
c.22292-2A>T (n.22292-2A>T)
c.43787-2A>T (n.43787-2A>T)
c.43784-2A>T (n.43784-2A>T)
c.43217-2A>T (n.43217-2A>T)
c.40559-2A>T (n.40559-2A>T)
c.40478-2A>T (n.40478-2A>T)
c.22241-2A>T (n.22241-2A>T)
c.12095-2A>T (n.12095-2A>T)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.178613939T>CCA349605079TTN,TTN-AS1c.41642-2A>G (n.41642-2A>G)
c.22727-2A>G (n.22727-2A>G)
c.22526-2A>G (n.22526-2A>G)
c.22151-2A>G (n.22151-2A>G)
c.49346-2A>G (n.49346-2A>G)
c.44423-2A>G (n.44423-2A>G)
n.783-96T>C
c.48443-2A>G (n.48443-2A>G)
c.22337-2A>G (n.22337-2A>G)
c.22196-2A>G (n.22196-2A>G)
c.48239-2A>G (n.48239-2A>G)
c.43637-2A>G (n.43637-2A>G)
c.43634-2A>G (n.43634-2A>G)
c.40676-2A>G (n.40676-2A>G)
c.22292-2A>G (n.22292-2A>G)
c.43787-2A>G (n.43787-2A>G)
c.43784-2A>G (n.43784-2A>G)
c.43217-2A>G (n.43217-2A>G)
c.40559-2A>G (n.40559-2A>G)
c.40478-2A>G (n.40478-2A>G)
c.22241-2A>G (n.22241-2A>G)
c.12095-2A>G (n.12095-2A>G)
2g.178613939T>GCA349605078TTN,TTN-AS1c.41642-2A>C (n.41642-2A>C)
c.22727-2A>C (n.22727-2A>C)
c.22526-2A>C (n.22526-2A>C)
c.22151-2A>C (n.22151-2A>C)
c.49346-2A>C (n.49346-2A>C)
c.44423-2A>C (n.44423-2A>C)
n.783-96T>G
c.48443-2A>C (n.48443-2A>C)
c.22337-2A>C (n.22337-2A>C)
c.22196-2A>C (n.22196-2A>C)
c.48239-2A>C (n.48239-2A>C)
c.43637-2A>C (n.43637-2A>C)
c.43634-2A>C (n.43634-2A>C)
c.40676-2A>C (n.40676-2A>C)
c.22292-2A>C (n.22292-2A>C)
c.43787-2A>C (n.43787-2A>C)
c.43784-2A>C (n.43784-2A>C)
c.43217-2A>C (n.43217-2A>C)
c.40559-2A>C (n.40559-2A>C)
c.40478-2A>C (n.40478-2A>C)
c.22241-2A>C (n.22241-2A>C)
c.12095-2A>C (n.12095-2A>C)
2g.178613939T=CA1310549141TTN,TTN-AS1c.41642-2A= (n.41642-2A=)
c.22727-2A= (n.22727-2A=)
c.22526-2A= (n.22526-2A=)
c.22151-2A= (n.22151-2A=)
c.49346-2A= (n.49346-2A=)
c.44423-2A= (n.44423-2A=)
n.783-96T=
c.48443-2A= (n.48443-2A=)
c.22337-2A= (n.22337-2A=)
c.22196-2A= (n.22196-2A=)
c.48239-2A= (n.48239-2A=)
c.43637-2A= (n.43637-2A=)
c.43634-2A= (n.43634-2A=)
c.40676-2A= (n.40676-2A=)
c.22292-2A= (n.22292-2A=)
c.43787-2A= (n.43787-2A=)
c.43784-2A= (n.43784-2A=)
c.43217-2A= (n.43217-2A=)
c.40559-2A= (n.40559-2A=)
c.40478-2A= (n.40478-2A=)
c.22241-2A= (n.22241-2A=)
c.12095-2A= (n.12095-2A=)
2g.178613941_178613942dupCA2606717495TTN,TTN-AS1c.41642-3_41642-2dup (n.41642-3_41642-2dup)
c.22727-3_22727-2dup (n.22727-3_22727-2dup)
c.22526-3_22526-2dup (n.22526-3_22526-2dup)
c.22151-3_22151-2dup (n.22151-3_22151-2dup)
c.49346-3_49346-2dup (n.49346-3_49346-2dup)
c.44423-3_44423-2dup (n.44423-3_44423-2dup)
n.783-94_783-93dup
c.48443-3_48443-2dup (n.48443-3_48443-2dup)
c.22337-3_22337-2dup (n.22337-3_22337-2dup)
c.22196-3_22196-2dup (n.22196-3_22196-2dup)
c.48239-3_48239-2dup (n.48239-3_48239-2dup)
c.43637-3_43637-2dup (n.43637-3_43637-2dup)
c.43634-3_43634-2dup (n.43634-3_43634-2dup)
c.40676-3_40676-2dup (n.40676-3_40676-2dup)
c.22292-3_22292-2dup (n.22292-3_22292-2dup)
c.43787-3_43787-2dup (n.43787-3_43787-2dup)
c.43784-3_43784-2dup (n.43784-3_43784-2dup)
c.43217-3_43217-2dup (n.43217-3_43217-2dup)
c.40559-3_40559-2dup (n.40559-3_40559-2dup)
c.40478-3_40478-2dup (n.40478-3_40478-2dup)
c.22241-3_22241-2dup (n.22241-3_22241-2dup)
c.12095-3_12095-2dup (n.12095-3_12095-2dup)
 dbSNP gnomAD v3 gnomAD v4
2g.178613940A>CCA2753331438TTN,TTN-AS1c.41642-3T>G (n.41642-3T>G)
c.22727-3T>G (n.22727-3T>G)
c.22526-3T>G (n.22526-3T>G)
c.22151-3T>G (n.22151-3T>G)
c.49346-3T>G (n.49346-3T>G)
c.44423-3T>G (n.44423-3T>G)
n.783-95A>C
c.48443-3T>G (n.48443-3T>G)
c.22337-3T>G (n.22337-3T>G)
c.22196-3T>G (n.22196-3T>G)
c.48239-3T>G (n.48239-3T>G)
c.43637-3T>G (n.43637-3T>G)
c.43634-3T>G (n.43634-3T>G)
c.40676-3T>G (n.40676-3T>G)
c.22292-3T>G (n.22292-3T>G)
c.43787-3T>G (n.43787-3T>G)
c.43784-3T>G (n.43784-3T>G)
c.43217-3T>G (n.43217-3T>G)
c.40559-3T>G (n.40559-3T>G)
c.40478-3T>G (n.40478-3T>G)
c.22241-3T>G (n.22241-3T>G)
c.12095-3T>G (n.12095-3T>G)
2g.178613941T>ACA2662133268TTN,TTN-AS1c.41642-4A>T (n.41642-4A>T)
c.22727-4A>T (n.22727-4A>T)
c.22526-4A>T (n.22526-4A>T)
c.22151-4A>T (n.22151-4A>T)
c.49346-4A>T (n.49346-4A>T)
c.44423-4A>T (n.44423-4A>T)
n.783-94T>A
c.48443-4A>T (n.48443-4A>T)
c.22337-4A>T (n.22337-4A>T)
c.22196-4A>T (n.22196-4A>T)
c.48239-4A>T (n.48239-4A>T)
c.43637-4A>T (n.43637-4A>T)
c.43634-4A>T (n.43634-4A>T)
c.40676-4A>T (n.40676-4A>T)
c.22292-4A>T (n.22292-4A>T)
c.43787-4A>T (n.43787-4A>T)
c.43784-4A>T (n.43784-4A>T)
c.43217-4A>T (n.43217-4A>T)
c.40559-4A>T (n.40559-4A>T)
c.40478-4A>T (n.40478-4A>T)
c.22241-4A>T (n.22241-4A>T)
c.12095-4A>T (n.12095-4A>T)
 gnomAD v4
2g.178613941T>CCA538435813TTN,TTN-AS1c.41642-4A>G (n.41642-4A>G)
c.22727-4A>G (n.22727-4A>G)
c.22526-4A>G (n.22526-4A>G)
c.22151-4A>G (n.22151-4A>G)
c.49346-4A>G (n.49346-4A>G)
c.44423-4A>G (n.44423-4A>G)
n.783-94T>C
c.48443-4A>G (n.48443-4A>G)
c.22337-4A>G (n.22337-4A>G)
c.22196-4A>G (n.22196-4A>G)
c.48239-4A>G (n.48239-4A>G)
c.43637-4A>G (n.43637-4A>G)
c.43634-4A>G (n.43634-4A>G)
c.40676-4A>G (n.40676-4A>G)
c.22292-4A>G (n.22292-4A>G)
c.43787-4A>G (n.43787-4A>G)
c.43784-4A>G (n.43784-4A>G)
c.43217-4A>G (n.43217-4A>G)
c.40559-4A>G (n.40559-4A>G)
c.40478-4A>G (n.40478-4A>G)
c.22241-4A>G (n.22241-4A>G)
c.12095-4A>G (n.12095-4A>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.178613941T=CA1310549142TTN,TTN-AS1c.41642-4A= (n.41642-4A=)
c.22727-4A= (n.22727-4A=)
c.22526-4A= (n.22526-4A=)
c.22151-4A= (n.22151-4A=)
c.49346-4A= (n.49346-4A=)
c.44423-4A= (n.44423-4A=)
n.783-94T=
c.48443-4A= (n.48443-4A=)
c.22337-4A= (n.22337-4A=)
c.22196-4A= (n.22196-4A=)
c.48239-4A= (n.48239-4A=)
c.43637-4A= (n.43637-4A=)
c.43634-4A= (n.43634-4A=)
c.40676-4A= (n.40676-4A=)
c.22292-4A= (n.22292-4A=)
c.43787-4A= (n.43787-4A=)
c.43784-4A= (n.43784-4A=)
c.43217-4A= (n.43217-4A=)
c.40559-4A= (n.40559-4A=)
c.40478-4A= (n.40478-4A=)
c.22241-4A= (n.22241-4A=)
c.12095-4A= (n.12095-4A=)
2g.178613945C>GCA2662133270TTN,TTN-AS1c.41642-8G>C (n.41642-8G>C)
c.22727-8G>C (n.22727-8G>C)
c.22526-8G>C (n.22526-8G>C)
c.22151-8G>C (n.22151-8G>C)
c.49346-8G>C (n.49346-8G>C)
c.44423-8G>C (n.44423-8G>C)
n.783-90C>G
c.48443-8G>C (n.48443-8G>C)
c.22337-8G>C (n.22337-8G>C)
c.22196-8G>C (n.22196-8G>C)
c.48239-8G>C (n.48239-8G>C)
c.43637-8G>C (n.43637-8G>C)
c.43634-8G>C (n.43634-8G>C)
c.40676-8G>C (n.40676-8G>C)
c.22292-8G>C (n.22292-8G>C)
c.43787-8G>C (n.43787-8G>C)
c.43784-8G>C (n.43784-8G>C)
c.43217-8G>C (n.43217-8G>C)
c.40559-8G>C (n.40559-8G>C)
c.40478-8G>C (n.40478-8G>C)
c.22241-8G>C (n.22241-8G>C)
c.12095-8G>C (n.12095-8G>C)
 gnomAD v4
2g.178613945C>TCA2662133269TTN,TTN-AS1c.41642-8G>A (n.41642-8G>A)
c.22727-8G>A (n.22727-8G>A)
c.22526-8G>A (n.22526-8G>A)
c.22151-8G>A (n.22151-8G>A)
c.49346-8G>A (n.49346-8G>A)
c.44423-8G>A (n.44423-8G>A)
n.783-90C>T
c.48443-8G>A (n.48443-8G>A)
c.22337-8G>A (n.22337-8G>A)
c.22196-8G>A (n.22196-8G>A)
c.48239-8G>A (n.48239-8G>A)
c.43637-8G>A (n.43637-8G>A)
c.43634-8G>A (n.43634-8G>A)
c.40676-8G>A (n.40676-8G>A)
c.22292-8G>A (n.22292-8G>A)
c.43787-8G>A (n.43787-8G>A)
c.43784-8G>A (n.43784-8G>A)
c.43217-8G>A (n.43217-8G>A)
c.40559-8G>A (n.40559-8G>A)
c.40478-8G>A (n.40478-8G>A)
c.22241-8G>A (n.22241-8G>A)
c.12095-8G>A (n.12095-8G>A)
 gnomAD v4
2g.178613947G>ACA2499215432TTN,TTN-AS1c.41642-10C>T (n.41642-10C>T)
c.22727-10C>T (n.22727-10C>T)
c.22526-10C>T (n.22526-10C>T)
c.22151-10C>T (n.22151-10C>T)
c.49346-10C>T (n.49346-10C>T)
c.44423-10C>T (n.44423-10C>T)
n.783-88G>A
c.48443-10C>T (n.48443-10C>T)
c.22337-10C>T (n.22337-10C>T)
c.22196-10C>T (n.22196-10C>T)
c.48239-10C>T (n.48239-10C>T)
c.43637-10C>T (n.43637-10C>T)
c.43634-10C>T (n.43634-10C>T)
c.40676-10C>T (n.40676-10C>T)
c.22292-10C>T (n.22292-10C>T)
c.43787-10C>T (n.43787-10C>T)
c.43784-10C>T (n.43784-10C>T)
c.43217-10C>T (n.43217-10C>T)
c.40559-10C>T (n.40559-10C>T)
c.40478-10C>T (n.40478-10C>T)
c.22241-10C>T (n.22241-10C>T)
c.12095-10C>T (n.12095-10C>T)
 ClinVar dbSNP gnomAD v4
2g.178613948G>ACA1994615TTN,TTN-AS1c.41642-11C>T (n.41642-11C>T)
c.22727-11C>T (n.22727-11C>T)
c.22526-11C>T (n.22526-11C>T)
c.22151-11C>T (n.22151-11C>T)
c.49346-11C>T (n.49346-11C>T)
c.44423-11C>T (n.44423-11C>T)
n.783-87G>A
c.48443-11C>T (n.48443-11C>T)
c.22337-11C>T (n.22337-11C>T)
c.22196-11C>T (n.22196-11C>T)
c.48239-11C>T (n.48239-11C>T)
c.43637-11C>T (n.43637-11C>T)
c.43634-11C>T (n.43634-11C>T)
c.40676-11C>T (n.40676-11C>T)
c.22292-11C>T (n.22292-11C>T)
c.43787-11C>T (n.43787-11C>T)
c.43784-11C>T (n.43784-11C>T)
c.43217-11C>T (n.43217-11C>T)
c.40559-11C>T (n.40559-11C>T)
c.40478-11C>T (n.40478-11C>T)
c.22241-11C>T (n.22241-11C>T)
c.12095-11C>T (n.12095-11C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178613948G>CCA2580064978TTN,TTN-AS1c.41642-11C>G (n.41642-11C>G)
c.22727-11C>G (n.22727-11C>G)
c.22526-11C>G (n.22526-11C>G)
c.22151-11C>G (n.22151-11C>G)
c.49346-11C>G (n.49346-11C>G)
c.44423-11C>G (n.44423-11C>G)
n.783-87G>C
c.48443-11C>G (n.48443-11C>G)
c.22337-11C>G (n.22337-11C>G)
c.22196-11C>G (n.22196-11C>G)
c.48239-11C>G (n.48239-11C>G)
c.43637-11C>G (n.43637-11C>G)
c.43634-11C>G (n.43634-11C>G)
c.40676-11C>G (n.40676-11C>G)
c.22292-11C>G (n.22292-11C>G)
c.43787-11C>G (n.43787-11C>G)
c.43784-11C>G (n.43784-11C>G)
c.43217-11C>G (n.43217-11C>G)
c.40559-11C>G (n.40559-11C>G)
c.40478-11C>G (n.40478-11C>G)
c.22241-11C>G (n.22241-11C>G)
c.12095-11C>G (n.12095-11C>G)
 ClinVar
2g.178613948G=CA1310549143TTN,TTN-AS1c.41642-11C= (n.41642-11C=)
c.22727-11C= (n.22727-11C=)
c.22526-11C= (n.22526-11C=)
c.22151-11C= (n.22151-11C=)
c.49346-11C= (n.49346-11C=)
c.44423-11C= (n.44423-11C=)
n.783-87G=
c.48443-11C= (n.48443-11C=)
c.22337-11C= (n.22337-11C=)
c.22196-11C= (n.22196-11C=)
c.48239-11C= (n.48239-11C=)
c.43637-11C= (n.43637-11C=)
c.43634-11C= (n.43634-11C=)
c.40676-11C= (n.40676-11C=)
c.22292-11C= (n.22292-11C=)
c.43787-11C= (n.43787-11C=)
c.43784-11C= (n.43784-11C=)
c.43217-11C= (n.43217-11C=)
c.40559-11C= (n.40559-11C=)
c.40478-11C= (n.40478-11C=)
c.22241-11C= (n.22241-11C=)
c.12095-11C= (n.12095-11C=)
2g.178613951_178613953delCA2533111184TTN,TTN-AS1c.41642-14_41642-12del (n.41642-14_41642-12del)
c.22727-14_22727-12del (n.22727-14_22727-12del)
c.22526-14_22526-12del (n.22526-14_22526-12del)
c.22151-14_22151-12del (n.22151-14_22151-12del)
c.49346-14_49346-12del (n.49346-14_49346-12del)
c.44423-14_44423-12del (n.44423-14_44423-12del)
n.783-84_783-82del
c.48443-14_48443-12del (n.48443-14_48443-12del)
c.22337-14_22337-12del (n.22337-14_22337-12del)
c.22196-14_22196-12del (n.22196-14_22196-12del)
c.48239-14_48239-12del (n.48239-14_48239-12del)
c.43637-14_43637-12del (n.43637-14_43637-12del)
c.43634-14_43634-12del (n.43634-14_43634-12del)
c.40676-14_40676-12del (n.40676-14_40676-12del)
c.22292-14_22292-12del (n.22292-14_22292-12del)
c.43787-14_43787-12del (n.43787-14_43787-12del)
c.43784-14_43784-12del (n.43784-14_43784-12del)
c.43217-14_43217-12del (n.43217-14_43217-12del)
c.40559-14_40559-12del (n.40559-14_40559-12del)
c.40478-14_40478-12del (n.40478-14_40478-12del)
c.22241-14_22241-12del (n.22241-14_22241-12del)
c.12095-14_12095-12del (n.12095-14_12095-12del)
2g.178613954G>ACA2701300331TTN,TTN-AS1c.41642-17C>T (n.41642-17C>T)
c.22727-17C>T (n.22727-17C>T)
c.22526-17C>T (n.22526-17C>T)
c.22151-17C>T (n.22151-17C>T)
c.49346-17C>T (n.49346-17C>T)
c.44423-17C>T (n.44423-17C>T)
n.783-81G>A
c.48443-17C>T (n.48443-17C>T)
c.22337-17C>T (n.22337-17C>T)
c.22196-17C>T (n.22196-17C>T)
c.48239-17C>T (n.48239-17C>T)
c.43637-17C>T (n.43637-17C>T)
c.43634-17C>T (n.43634-17C>T)
c.40676-17C>T (n.40676-17C>T)
c.22292-17C>T (n.22292-17C>T)
c.43787-17C>T (n.43787-17C>T)
c.43784-17C>T (n.43784-17C>T)
c.43217-17C>T (n.43217-17C>T)
c.40559-17C>T (n.40559-17C>T)
c.40478-17C>T (n.40478-17C>T)
c.22241-17C>T (n.22241-17C>T)
c.12095-17C>T (n.12095-17C>T)
 dbSNP

Number of alleles fetched