Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.178613928C>A | CA349604989 | TTN,TTN-AS1 | c.41651G>T (p.Gly13884Val) c.22736G>T (p.Gly7579Val) c.22535G>T (p.Gly7512Val) c.22160G>T (p.Gly7387Val) c.49355G>T (p.Gly16452Val) c.44432G>T (p.Gly14811Val) n.783-107C>A c.48452G>T (p.Gly16151Val) c.22346G>T (p.Gly7449Val) c.22205G>T (p.Gly7402Val) c.48248G>T (p.Gly16083Val) c.43646G>T (p.Gly14549Val) c.43643G>T (p.Gly14548Val) c.40685G>T (p.Gly13562Val) c.22301G>T (p.Gly7434Val) c.43796G>T (p.Gly14599Val) c.43793G>T (p.Gly14598Val) c.43226G>T (p.Gly14409Val) c.40568G>T (p.Gly13523Val) c.40487G>T (p.Gly13496Val) c.22250G>T (p.Gly7417Val) c.12104G>T (p.Gly4035Val) | COSMIC COSMIC COSMIC COSMIC |
2 | g.178613928C>G | CA349604990 | TTN,TTN-AS1 | c.41651G>C (p.Gly13884Ala) c.22736G>C (p.Gly7579Ala) c.22535G>C (p.Gly7512Ala) c.22160G>C (p.Gly7387Ala) c.49355G>C (p.Gly16452Ala) c.44432G>C (p.Gly14811Ala) n.783-107C>G c.48452G>C (p.Gly16151Ala) c.22346G>C (p.Gly7449Ala) c.22205G>C (p.Gly7402Ala) c.48248G>C (p.Gly16083Ala) c.43646G>C (p.Gly14549Ala) c.43643G>C (p.Gly14548Ala) c.40685G>C (p.Gly13562Ala) c.22301G>C (p.Gly7434Ala) c.43796G>C (p.Gly14599Ala) c.43793G>C (p.Gly14598Ala) c.43226G>C (p.Gly14409Ala) c.40568G>C (p.Gly13523Ala) c.40487G>C (p.Gly13496Ala) c.22250G>C (p.Gly7417Ala) c.12104G>C (p.Gly4035Ala) | |
2 | g.178613928C>T | CA349604993 | TTN,TTN-AS1 | c.41651G>A (p.Gly13884Asp) c.22736G>A (p.Gly7579Asp) c.22535G>A (p.Gly7512Asp) c.22160G>A (p.Gly7387Asp) c.49355G>A (p.Gly16452Asp) c.44432G>A (p.Gly14811Asp) n.783-107C>T c.48452G>A (p.Gly16151Asp) c.22346G>A (p.Gly7449Asp) c.22205G>A (p.Gly7402Asp) c.48248G>A (p.Gly16083Asp) c.43646G>A (p.Gly14549Asp) c.43643G>A (p.Gly14548Asp) c.40685G>A (p.Gly13562Asp) c.22301G>A (p.Gly7434Asp) c.43796G>A (p.Gly14599Asp) c.43793G>A (p.Gly14598Asp) c.43226G>A (p.Gly14409Asp) c.40568G>A (p.Gly13523Asp) c.40487G>A (p.Gly13496Asp) c.22250G>A (p.Gly7417Asp) c.12104G>A (p.Gly4035Asp) | gnomAD v4 |
2 | g.178613929C>A | CA349604997 | TTN,TTN-AS1 | c.41650G>T (p.Gly13884Cys) c.22735G>T (p.Gly7579Cys) c.22534G>T (p.Gly7512Cys) c.22159G>T (p.Gly7387Cys) c.49354G>T (p.Gly16452Cys) c.44431G>T (p.Gly14811Cys) n.783-106C>A c.48451G>T (p.Gly16151Cys) c.22345G>T (p.Gly7449Cys) c.22204G>T (p.Gly7402Cys) c.48247G>T (p.Gly16083Cys) c.43645G>T (p.Gly14549Cys) c.43642G>T (p.Gly14548Cys) c.40684G>T (p.Gly13562Cys) c.22300G>T (p.Gly7434Cys) c.43795G>T (p.Gly14599Cys) c.43792G>T (p.Gly14598Cys) c.43225G>T (p.Gly14409Cys) c.40567G>T (p.Gly13523Cys) c.40486G>T (p.Gly13496Cys) c.22249G>T (p.Gly7417Cys) c.12103G>T (p.Gly4035Cys) | |
2 | g.178613929C= | CA1310549134 | TTN,TTN-AS1 | c.41650G= (p.Gly13884=) c.22735G= (p.Gly7579=) c.22534G= (p.Gly7512=) c.22159G= (p.Gly7387=) c.49354G= (p.Gly16452=) c.44431G= (p.Gly14811=) n.783-106C= c.48451G= (p.Gly16151=) c.22345G= (p.Gly7449=) c.22204G= (p.Gly7402=) c.48247G= (p.Gly16083=) c.43645G= (p.Gly14549=) c.43642G= (p.Gly14548=) c.40684G= (p.Gly13562=) c.22300G= (p.Gly7434=) c.43795G= (p.Gly14599=) c.43792G= (p.Gly14598=) c.43225G= (p.Gly14409=) c.40567G= (p.Gly13523=) c.40486G= (p.Gly13496=) c.22249G= (p.Gly7417=) c.12103G= (p.Gly4035=) | |
2 | g.178613929C>G | CA349605001 | TTN,TTN-AS1 | c.41650G>C (p.Gly13884Arg) c.22735G>C (p.Gly7579Arg) c.22534G>C (p.Gly7512Arg) c.22159G>C (p.Gly7387Arg) c.49354G>C (p.Gly16452Arg) c.44431G>C (p.Gly14811Arg) n.783-106C>G c.48451G>C (p.Gly16151Arg) c.22345G>C (p.Gly7449Arg) c.22204G>C (p.Gly7402Arg) c.48247G>C (p.Gly16083Arg) c.43645G>C (p.Gly14549Arg) c.43642G>C (p.Gly14548Arg) c.40684G>C (p.Gly13562Arg) c.22300G>C (p.Gly7434Arg) c.43795G>C (p.Gly14599Arg) c.43792G>C (p.Gly14598Arg) c.43225G>C (p.Gly14409Arg) c.40567G>C (p.Gly13523Arg) c.40486G>C (p.Gly13496Arg) c.22249G>C (p.Gly7417Arg) c.12103G>C (p.Gly4035Arg) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.178613929C>T | CA349604995 | TTN,TTN-AS1 | c.41650G>A (p.Gly13884Ser) c.22735G>A (p.Gly7579Ser) c.22534G>A (p.Gly7512Ser) c.22159G>A (p.Gly7387Ser) c.49354G>A (p.Gly16452Ser) c.44431G>A (p.Gly14811Ser) n.783-106C>T c.48451G>A (p.Gly16151Ser) c.22345G>A (p.Gly7449Ser) c.22204G>A (p.Gly7402Ser) c.48247G>A (p.Gly16083Ser) c.43645G>A (p.Gly14549Ser) c.43642G>A (p.Gly14548Ser) c.40684G>A (p.Gly13562Ser) c.22300G>A (p.Gly7434Ser) c.43795G>A (p.Gly14599Ser) c.43792G>A (p.Gly14598Ser) c.43225G>A (p.Gly14409Ser) c.40567G>A (p.Gly13523Ser) c.40486G>A (p.Gly13496Ser) c.22249G>A (p.Gly7417Ser) c.12103G>A (p.Gly4035Ser) | |
2 | g.178613930A>C | CA430272937 | TTN,TTN-AS1 | c.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=) | |
2 | g.178613930A>G | CA430272935 | TTN,TTN-AS1 | c.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=) | |
2 | g.178613930A>T | CA430272936 | TTN,TTN-AS1 | c.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=) | |
2 | g.178613931G>A | CA349605008 | TTN,TTN-AS1 | c.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 |
2 | g.178613931G>C | CA349605018 | TTN,TTN-AS1 | c.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) | |
2 | g.178613931G>T | CA349605021 | TTN,TTN-AS1 | c.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) | |
2 | g.178613932G>A | CA349605024 | TTN,TTN-AS1 | c.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 |
2 | g.178613932G>C | CA349605025 | TTN,TTN-AS1 | c.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) | |
2 | g.178613932G= | CA1310549135 | TTN,TTN-AS1 | c.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=) | |
2 | g.178613932G>T | CA349605026 | TTN,TTN-AS1 | c.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) | |
2 | g.178613933T>A | CA430272939 | TTN,TTN-AS1 | c.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 |
2 | g.178613933T>C | CA430272941 | TTN,TTN-AS1 | c.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=) | |
2 | g.178613933T>G | CA430272942 | TTN,TTN-AS1 | c.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=) | |
2 | g.178613933T= | CA1310549136 | TTN,TTN-AS1 | c.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=) | |
2 | g.178613934G>A | CA349605027 | TTN,TTN-AS1 | c.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 |
2 | g.178613934G>C | CA349605029 | TTN,TTN-AS1 | c.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) | |
2 | g.178613934G= | CA1310549137 | TTN,TTN-AS1 | c.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=) | |
2 | g.178613934G>T | CA349605031 | TTN,TTN-AS1 | c.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) | |
2 | g.178613935G>A | CA349605034 | TTN,TTN-AS1 | c.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 |
2 | g.178613935G>C | CA349605037 | TTN,TTN-AS1 | c.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) | |
2 | g.178613935G= | CA1310549138 | TTN,TTN-AS1 | c.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=) | |
2 | g.178613935G>T | CA349605044 | TTN,TTN-AS1 | c.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) | |
2 | g.178613936A= | CA1310549139 | TTN,TTN-AS1 | c.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=) | |
2 | g.178613936A>C | CA349605049 | TTN,TTN-AS1 | c.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) | |
2 | g.178613936A>G | CA1994614 | TTN,TTN-AS1 | c.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 |
2 | g.178613936A>T | CA349605047 | TTN,TTN-AS1 | c.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 |
2 | g.178613937T>A | CA349605057 | TTN,TTN-AS1 | c.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) | |
2 | g.178613937T>C | CA349605060 | TTN,TTN-AS1 | c.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) | |
2 | g.178613937T>G | CA349605061 | TTN,TTN-AS1 | c.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) | |
2 | g.178613938C>A | CA349605063 | TTN,TTN-AS1 | c.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 |
2 | g.178613938C= | CA1310549140 | TTN,TTN-AS1 | c.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=) | |
2 | g.178613938C>G | CA349605066 | TTN,TTN-AS1 | c.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) | |
2 | g.178613938C>T | CA353085 | TTN,TTN-AS1 | c.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 |
2 | g.178613939T>A | CA309231 | TTN,TTN-AS1 | c.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 |
2 | g.178613939T>C | CA349605079 | TTN,TTN-AS1 | c.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) | |
2 | g.178613939T>G | CA349605078 | TTN,TTN-AS1 | c.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) | |
2 | g.178613939T= | CA1310549141 | TTN,TTN-AS1 | c.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=) | |
2 | g.178613941_178613942dup | CA2606717495 | TTN,TTN-AS1 | c.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 |
2 | g.178613940A>C | CA2753331438 | TTN,TTN-AS1 | c.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) | |
2 | g.178613941T>A | CA2662133268 | TTN,TTN-AS1 | c.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 |
2 | g.178613941T>C | CA538435813 | TTN,TTN-AS1 | c.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 |
2 | g.178613941T= | CA1310549142 | TTN,TTN-AS1 | c.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=) | |
2 | g.178613945C>G | CA2662133270 | TTN,TTN-AS1 | c.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 |