| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.178536160C>A | CA349425363 | TTN,TTN-AS1 | c.92883G>T (p.Trp30961Cys) c.73968G>T (p.Trp24656Cys) c.73767G>T (p.Trp24589Cys) c.73392G>T (p.Trp24464Cys) c.100587G>T (p.Trp33529Cys) c.95664G>T (p.Trp31888Cys) n.446+12524C>A n.316+332C>A c.99684G>T (p.Trp33228Cys) c.73578G>T (p.Trp24526Cys) c.73437G>T (p.Trp24479Cys) c.99480G>T (p.Trp33160Cys) c.94878G>T (p.Trp31626Cys) c.94875G>T (p.Trp31625Cys) c.91917G>T (p.Trp30639Cys) c.73533G>T (p.Trp24511Cys) c.95028G>T (p.Trp31676Cys) c.95025G>T (p.Trp31675Cys) c.94458G>T (p.Trp31486Cys) c.91800G>T (p.Trp30600Cys) c.91719G>T (p.Trp30573Cys) c.73482G>T (p.Trp24494Cys) c.63336G>T (p.Trp21112Cys) | |
| 2 | g.178536160C= | CA1310514622 | TTN,TTN-AS1 | c.92883G= (p.Trp30961=) c.73968G= (p.Trp24656=) c.73767G= (p.Trp24589=) c.73392G= (p.Trp24464=) c.100587G= (p.Trp33529=) c.95664G= (p.Trp31888=) n.446+12524C= n.316+332C= c.99684G= (p.Trp33228=) c.73578G= (p.Trp24526=) c.73437G= (p.Trp24479=) c.99480G= (p.Trp33160=) c.94878G= (p.Trp31626=) c.94875G= (p.Trp31625=) c.91917G= (p.Trp30639=) c.73533G= (p.Trp24511=) c.95028G= (p.Trp31676=) c.95025G= (p.Trp31675=) c.94458G= (p.Trp31486=) c.91800G= (p.Trp30600=) c.91719G= (p.Trp30573=) c.73482G= (p.Trp24494=) c.63336G= (p.Trp21112=) | |
| 2 | g.178536160C>G | CA349425368 | TTN,TTN-AS1 | c.92883G>C (p.Trp30961Cys) c.73968G>C (p.Trp24656Cys) c.73767G>C (p.Trp24589Cys) c.73392G>C (p.Trp24464Cys) c.100587G>C (p.Trp33529Cys) c.95664G>C (p.Trp31888Cys) n.446+12524C>G n.316+332C>G c.99684G>C (p.Trp33228Cys) c.73578G>C (p.Trp24526Cys) c.73437G>C (p.Trp24479Cys) c.99480G>C (p.Trp33160Cys) c.94878G>C (p.Trp31626Cys) c.94875G>C (p.Trp31625Cys) c.91917G>C (p.Trp30639Cys) c.73533G>C (p.Trp24511Cys) c.95028G>C (p.Trp31676Cys) c.95025G>C (p.Trp31675Cys) c.94458G>C (p.Trp31486Cys) c.91800G>C (p.Trp30600Cys) c.91719G>C (p.Trp30573Cys) c.73482G>C (p.Trp24494Cys) c.63336G>C (p.Trp21112Cys) | |
| 2 | g.178536160C>T | CA16617330 | TTN,TTN-AS1 | c.92883G>A (p.Trp30961Ter) c.73968G>A (p.Trp24656Ter) c.73767G>A (p.Trp24589Ter) c.73392G>A (p.Trp24464Ter) c.100587G>A (p.Trp33529Ter) c.95664G>A (p.Trp31888Ter) n.446+12524C>T n.316+332C>T c.99684G>A (p.Trp33228Ter) c.73578G>A (p.Trp24526Ter) c.73437G>A (p.Trp24479Ter) c.99480G>A (p.Trp33160Ter) c.94878G>A (p.Trp31626Ter) c.94875G>A (p.Trp31625Ter) c.91917G>A (p.Trp30639Ter) c.73533G>A (p.Trp24511Ter) c.95028G>A (p.Trp31676Ter) c.95025G>A (p.Trp31675Ter) c.94458G>A (p.Trp31486Ter) c.91800G>A (p.Trp30600Ter) c.91719G>A (p.Trp30573Ter) c.73482G>A (p.Trp24494Ter) c.63336G>A (p.Trp21112Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.178536161C>A | CA349425371 | TTN,TTN-AS1 | c.92882G>T (p.Trp30961Leu) c.73967G>T (p.Trp24656Leu) c.73766G>T (p.Trp24589Leu) c.73391G>T (p.Trp24464Leu) c.100586G>T (p.Trp33529Leu) c.95663G>T (p.Trp31888Leu) n.446+12525C>A n.316+333C>A c.99683G>T (p.Trp33228Leu) c.73577G>T (p.Trp24526Leu) c.73436G>T (p.Trp24479Leu) c.99479G>T (p.Trp33160Leu) c.94877G>T (p.Trp31626Leu) c.94874G>T (p.Trp31625Leu) c.91916G>T (p.Trp30639Leu) c.73532G>T (p.Trp24511Leu) c.95027G>T (p.Trp31676Leu) c.95024G>T (p.Trp31675Leu) c.94457G>T (p.Trp31486Leu) c.91799G>T (p.Trp30600Leu) c.91718G>T (p.Trp30573Leu) c.73481G>T (p.Trp24494Leu) c.63335G>T (p.Trp21112Leu) | |
| 2 | g.178536161C= | CA1310514624 | TTN,TTN-AS1 | c.92882G= (p.Trp30961=) c.73967G= (p.Trp24656=) c.73766G= (p.Trp24589=) c.73391G= (p.Trp24464=) c.100586G= (p.Trp33529=) c.95663G= (p.Trp31888=) n.446+12525C= n.316+333C= c.99683G= (p.Trp33228=) c.73577G= (p.Trp24526=) c.73436G= (p.Trp24479=) c.99479G= (p.Trp33160=) c.94877G= (p.Trp31626=) c.94874G= (p.Trp31625=) c.91916G= (p.Trp30639=) c.73532G= (p.Trp24511=) c.95027G= (p.Trp31676=) c.95024G= (p.Trp31675=) c.94457G= (p.Trp31486=) c.91799G= (p.Trp30600=) c.91718G= (p.Trp30573=) c.73481G= (p.Trp24494=) c.63335G= (p.Trp21112=) | |
| 2 | g.178536161C>G | CA349425372 | TTN,TTN-AS1 | c.92882G>C (p.Trp30961Ser) c.73967G>C (p.Trp24656Ser) c.73766G>C (p.Trp24589Ser) c.73391G>C (p.Trp24464Ser) c.100586G>C (p.Trp33529Ser) c.95663G>C (p.Trp31888Ser) n.446+12525C>G n.316+333C>G c.99683G>C (p.Trp33228Ser) c.73577G>C (p.Trp24526Ser) c.73436G>C (p.Trp24479Ser) c.99479G>C (p.Trp33160Ser) c.94877G>C (p.Trp31626Ser) c.94874G>C (p.Trp31625Ser) c.91916G>C (p.Trp30639Ser) c.73532G>C (p.Trp24511Ser) c.95027G>C (p.Trp31676Ser) c.95024G>C (p.Trp31675Ser) c.94457G>C (p.Trp31486Ser) c.91799G>C (p.Trp30600Ser) c.91718G>C (p.Trp30573Ser) c.73481G>C (p.Trp24494Ser) c.63335G>C (p.Trp21112Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.178536161C>T | CA349425374 | TTN,TTN-AS1 | c.92882G>A (p.Trp30961Ter) c.73967G>A (p.Trp24656Ter) c.73766G>A (p.Trp24589Ter) c.73391G>A (p.Trp24464Ter) c.100586G>A (p.Trp33529Ter) c.95663G>A (p.Trp31888Ter) n.446+12525C>T n.316+333C>T c.99683G>A (p.Trp33228Ter) c.73577G>A (p.Trp24526Ter) c.73436G>A (p.Trp24479Ter) c.99479G>A (p.Trp33160Ter) c.94877G>A (p.Trp31626Ter) c.94874G>A (p.Trp31625Ter) c.91916G>A (p.Trp30639Ter) c.73532G>A (p.Trp24511Ter) c.95027G>A (p.Trp31676Ter) c.95024G>A (p.Trp31675Ter) c.94457G>A (p.Trp31486Ter) c.91799G>A (p.Trp30600Ter) c.91718G>A (p.Trp30573Ter) c.73481G>A (p.Trp24494Ter) c.63335G>A (p.Trp21112Ter) | |
| 2 | g.178536162A= | CA1310514625 | TTN,TTN-AS1 | c.92881T= (p.Trp30961=) c.73966T= (p.Trp24656=) c.73765T= (p.Trp24589=) c.73390T= (p.Trp24464=) c.100585T= (p.Trp33529=) c.95662T= (p.Trp31888=) n.446+12526A= n.316+334A= c.99682T= (p.Trp33228=) c.73576T= (p.Trp24526=) c.73435T= (p.Trp24479=) c.99478T= (p.Trp33160=) c.94876T= (p.Trp31626=) c.94873T= (p.Trp31625=) c.91915T= (p.Trp30639=) c.73531T= (p.Trp24511=) c.95026T= (p.Trp31676=) c.95023T= (p.Trp31675=) c.94456T= (p.Trp31486=) c.91798T= (p.Trp30600=) c.91717T= (p.Trp30573=) c.73480T= (p.Trp24494=) c.63334T= (p.Trp21112=) | |
| 2 | g.178536162A>C | CA349425378 | TTN,TTN-AS1 | c.92881T>G (p.Trp30961Gly) c.73966T>G (p.Trp24656Gly) c.73765T>G (p.Trp24589Gly) c.73390T>G (p.Trp24464Gly) c.100585T>G (p.Trp33529Gly) c.95662T>G (p.Trp31888Gly) n.446+12526A>C n.316+334A>C c.99682T>G (p.Trp33228Gly) c.73576T>G (p.Trp24526Gly) c.73435T>G (p.Trp24479Gly) c.99478T>G (p.Trp33160Gly) c.94876T>G (p.Trp31626Gly) c.94873T>G (p.Trp31625Gly) c.91915T>G (p.Trp30639Gly) c.73531T>G (p.Trp24511Gly) c.95026T>G (p.Trp31676Gly) c.95023T>G (p.Trp31675Gly) c.94456T>G (p.Trp31486Gly) c.91798T>G (p.Trp30600Gly) c.91717T>G (p.Trp30573Gly) c.73480T>G (p.Trp24494Gly) c.63334T>G (p.Trp21112Gly) | |
| 2 | g.178536162A>G | CA60960675 | TTN,TTN-AS1 | c.92881T>C (p.Trp30961Arg) c.73966T>C (p.Trp24656Arg) c.73765T>C (p.Trp24589Arg) c.73390T>C (p.Trp24464Arg) c.100585T>C (p.Trp33529Arg) c.95662T>C (p.Trp31888Arg) n.446+12526A>G n.316+334A>G c.99682T>C (p.Trp33228Arg) c.73576T>C (p.Trp24526Arg) c.73435T>C (p.Trp24479Arg) c.99478T>C (p.Trp33160Arg) c.94876T>C (p.Trp31626Arg) c.94873T>C (p.Trp31625Arg) c.91915T>C (p.Trp30639Arg) c.73531T>C (p.Trp24511Arg) c.95026T>C (p.Trp31676Arg) c.95023T>C (p.Trp31675Arg) c.94456T>C (p.Trp31486Arg) c.91798T>C (p.Trp30600Arg) c.91717T>C (p.Trp30573Arg) c.73480T>C (p.Trp24494Arg) c.63334T>C (p.Trp21112Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.178536162A>T | CA349425376 | TTN,TTN-AS1 | c.92881T>A (p.Trp30961Arg) c.73966T>A (p.Trp24656Arg) c.73765T>A (p.Trp24589Arg) c.73390T>A (p.Trp24464Arg) c.100585T>A (p.Trp33529Arg) c.95662T>A (p.Trp31888Arg) n.446+12526A>T n.316+334A>T c.99682T>A (p.Trp33228Arg) c.73576T>A (p.Trp24526Arg) c.73435T>A (p.Trp24479Arg) c.99478T>A (p.Trp33160Arg) c.94876T>A (p.Trp31626Arg) c.94873T>A (p.Trp31625Arg) c.91915T>A (p.Trp30639Arg) c.73531T>A (p.Trp24511Arg) c.95026T>A (p.Trp31676Arg) c.95023T>A (p.Trp31675Arg) c.94456T>A (p.Trp31486Arg) c.91798T>A (p.Trp30600Arg) c.91717T>A (p.Trp30573Arg) c.73480T>A (p.Trp24494Arg) c.63334T>A (p.Trp21112Arg) | |
| 2 | g.178536163T>A | CA349425382 | TTN,TTN-AS1 | c.92880A>T (p.Lys30960Asn) c.73965A>T (p.Lys24655Asn) c.73764A>T (p.Lys24588Asn) c.73389A>T (p.Lys24463Asn) c.100584A>T (p.Lys33528Asn) c.95661A>T (p.Lys31887Asn) n.446+12527T>A n.316+335T>A c.99681A>T (p.Lys33227Asn) c.73575A>T (p.Lys24525Asn) c.73434A>T (p.Lys24478Asn) c.99477A>T (p.Lys33159Asn) c.94875A>T (p.Lys31625Asn) c.94872A>T (p.Lys31624Asn) c.91914A>T (p.Lys30638Asn) c.73530A>T (p.Lys24510Asn) c.95025A>T (p.Lys31675Asn) c.95022A>T (p.Lys31674Asn) c.94455A>T (p.Lys31485Asn) c.91797A>T (p.Lys30599Asn) c.91716A>T (p.Lys30572Asn) c.73479A>T (p.Lys24493Asn) c.63333A>T (p.Lys21111Asn) | |
| 2 | g.178536163T>C | CA430238368 | TTN,TTN-AS1 | c.92880A>G (p.Lys30960=) c.73965A>G (p.Lys24655=) c.73764A>G (p.Lys24588=) c.73389A>G (p.Lys24463=) c.100584A>G (p.Lys33528=) c.95661A>G (p.Lys31887=) n.446+12527T>C n.316+335T>C c.99681A>G (p.Lys33227=) c.73575A>G (p.Lys24525=) c.73434A>G (p.Lys24478=) c.99477A>G (p.Lys33159=) c.94875A>G (p.Lys31625=) c.94872A>G (p.Lys31624=) c.91914A>G (p.Lys30638=) c.73530A>G (p.Lys24510=) c.95025A>G (p.Lys31675=) c.95022A>G (p.Lys31674=) c.94455A>G (p.Lys31485=) c.91797A>G (p.Lys30599=) c.91716A>G (p.Lys30572=) c.73479A>G (p.Lys24493=) c.63333A>G (p.Lys21111=) | |
| 2 | g.178536163T>G | CA349425380 | TTN,TTN-AS1 | c.92880A>C (p.Lys30960Asn) c.73965A>C (p.Lys24655Asn) c.73764A>C (p.Lys24588Asn) c.73389A>C (p.Lys24463Asn) c.100584A>C (p.Lys33528Asn) c.95661A>C (p.Lys31887Asn) n.446+12527T>G n.316+335T>G c.99681A>C (p.Lys33227Asn) c.73575A>C (p.Lys24525Asn) c.73434A>C (p.Lys24478Asn) c.99477A>C (p.Lys33159Asn) c.94875A>C (p.Lys31625Asn) c.94872A>C (p.Lys31624Asn) c.91914A>C (p.Lys30638Asn) c.73530A>C (p.Lys24510Asn) c.95025A>C (p.Lys31675Asn) c.95022A>C (p.Lys31674Asn) c.94455A>C (p.Lys31485Asn) c.91797A>C (p.Lys30599Asn) c.91716A>C (p.Lys30572Asn) c.73479A>C (p.Lys24493Asn) c.63333A>C (p.Lys21111Asn) | |
| 2 | g.178536164T>A | CA349425386 | TTN,TTN-AS1 | c.92879A>T (p.Lys30960Ile) c.73964A>T (p.Lys24655Ile) c.73763A>T (p.Lys24588Ile) c.73388A>T (p.Lys24463Ile) c.100583A>T (p.Lys33528Ile) c.95660A>T (p.Lys31887Ile) n.446+12528T>A n.316+336T>A c.99680A>T (p.Lys33227Ile) c.73574A>T (p.Lys24525Ile) c.73433A>T (p.Lys24478Ile) c.99476A>T (p.Lys33159Ile) c.94874A>T (p.Lys31625Ile) c.94871A>T (p.Lys31624Ile) c.91913A>T (p.Lys30638Ile) c.73529A>T (p.Lys24510Ile) c.95024A>T (p.Lys31675Ile) c.95021A>T (p.Lys31674Ile) c.94454A>T (p.Lys31485Ile) c.91796A>T (p.Lys30599Ile) c.91715A>T (p.Lys30572Ile) c.73478A>T (p.Lys24493Ile) c.63332A>T (p.Lys21111Ile) | |
| 2 | g.178536164T>C | CA349425385 | TTN,TTN-AS1 | c.92879A>G (p.Lys30960Arg) c.73964A>G (p.Lys24655Arg) c.73763A>G (p.Lys24588Arg) c.73388A>G (p.Lys24463Arg) c.100583A>G (p.Lys33528Arg) c.95660A>G (p.Lys31887Arg) n.446+12528T>C n.316+336T>C c.99680A>G (p.Lys33227Arg) c.73574A>G (p.Lys24525Arg) c.73433A>G (p.Lys24478Arg) c.99476A>G (p.Lys33159Arg) c.94874A>G (p.Lys31625Arg) c.94871A>G (p.Lys31624Arg) c.91913A>G (p.Lys30638Arg) c.73529A>G (p.Lys24510Arg) c.95024A>G (p.Lys31675Arg) c.95021A>G (p.Lys31674Arg) c.94454A>G (p.Lys31485Arg) c.91796A>G (p.Lys30599Arg) c.91715A>G (p.Lys30572Arg) c.73478A>G (p.Lys24493Arg) c.63332A>G (p.Lys21111Arg) | |
| 2 | g.178536164T>G | CA349425388 | TTN,TTN-AS1 | c.92879A>C (p.Lys30960Thr) c.73964A>C (p.Lys24655Thr) c.73763A>C (p.Lys24588Thr) c.73388A>C (p.Lys24463Thr) c.100583A>C (p.Lys33528Thr) c.95660A>C (p.Lys31887Thr) n.446+12528T>G n.316+336T>G c.99680A>C (p.Lys33227Thr) c.73574A>C (p.Lys24525Thr) c.73433A>C (p.Lys24478Thr) c.99476A>C (p.Lys33159Thr) c.94874A>C (p.Lys31625Thr) c.94871A>C (p.Lys31624Thr) c.91913A>C (p.Lys30638Thr) c.73529A>C (p.Lys24510Thr) c.95024A>C (p.Lys31675Thr) c.95021A>C (p.Lys31674Thr) c.94454A>C (p.Lys31485Thr) c.91796A>C (p.Lys30599Thr) c.91715A>C (p.Lys30572Thr) c.73478A>C (p.Lys24493Thr) c.63332A>C (p.Lys21111Thr) | |
| 2 | g.178536165T>A | CA349425390 | TTN,TTN-AS1 | c.92878A>T (p.Lys30960Ter) c.73963A>T (p.Lys24655Ter) c.73762A>T (p.Lys24588Ter) c.73387A>T (p.Lys24463Ter) c.100582A>T (p.Lys33528Ter) c.95659A>T (p.Lys31887Ter) n.446+12529T>A n.316+337T>A c.99679A>T (p.Lys33227Ter) c.73573A>T (p.Lys24525Ter) c.73432A>T (p.Lys24478Ter) c.99475A>T (p.Lys33159Ter) c.94873A>T (p.Lys31625Ter) c.94870A>T (p.Lys31624Ter) c.91912A>T (p.Lys30638Ter) c.73528A>T (p.Lys24510Ter) c.95023A>T (p.Lys31675Ter) c.95020A>T (p.Lys31674Ter) c.94453A>T (p.Lys31485Ter) c.91795A>T (p.Lys30599Ter) c.91714A>T (p.Lys30572Ter) c.73477A>T (p.Lys24493Ter) c.63331A>T (p.Lys21111Ter) | |
| 2 | g.178536165T>C | CA311118 | TTN,TTN-AS1 | c.92878A>G (p.Lys30960Glu) c.73963A>G (p.Lys24655Glu) c.73762A>G (p.Lys24588Glu) c.73387A>G (p.Lys24463Glu) c.100582A>G (p.Lys33528Glu) c.95659A>G (p.Lys31887Glu) n.446+12529T>C n.316+337T>C c.99679A>G (p.Lys33227Glu) c.73573A>G (p.Lys24525Glu) c.73432A>G (p.Lys24478Glu) c.99475A>G (p.Lys33159Glu) c.94873A>G (p.Lys31625Glu) c.94870A>G (p.Lys31624Glu) c.91912A>G (p.Lys30638Glu) c.73528A>G (p.Lys24510Glu) c.95023A>G (p.Lys31675Glu) c.95020A>G (p.Lys31674Glu) c.94453A>G (p.Lys31485Glu) c.91795A>G (p.Lys30599Glu) c.91714A>G (p.Lys30572Glu) c.73477A>G (p.Lys24493Glu) c.63331A>G (p.Lys21111Glu) | ClinVar dbSNP |
| 2 | g.178536165T>G | CA349425391 | TTN,TTN-AS1 | c.92878A>C (p.Lys30960Gln) c.73963A>C (p.Lys24655Gln) c.73762A>C (p.Lys24588Gln) c.73387A>C (p.Lys24463Gln) c.100582A>C (p.Lys33528Gln) c.95659A>C (p.Lys31887Gln) n.446+12529T>G n.316+337T>G c.99679A>C (p.Lys33227Gln) c.73573A>C (p.Lys24525Gln) c.73432A>C (p.Lys24478Gln) c.99475A>C (p.Lys33159Gln) c.94873A>C (p.Lys31625Gln) c.94870A>C (p.Lys31624Gln) c.91912A>C (p.Lys30638Gln) c.73528A>C (p.Lys24510Gln) c.95023A>C (p.Lys31675Gln) c.95020A>C (p.Lys31674Gln) c.94453A>C (p.Lys31485Gln) c.91795A>C (p.Lys30599Gln) c.91714A>C (p.Lys30572Gln) c.73477A>C (p.Lys24493Gln) c.63331A>C (p.Lys21111Gln) | dbSNP |
| 2 | g.178536165T= | CA1310514627 | TTN,TTN-AS1 | c.92878A= (p.Lys30960=) c.73963A= (p.Lys24655=) c.73762A= (p.Lys24588=) c.73387A= (p.Lys24463=) c.100582A= (p.Lys33528=) c.95659A= (p.Lys31887=) n.446+12529T= n.316+337T= c.99679A= (p.Lys33227=) c.73573A= (p.Lys24525=) c.73432A= (p.Lys24478=) c.99475A= (p.Lys33159=) c.94873A= (p.Lys31625=) c.94870A= (p.Lys31624=) c.91912A= (p.Lys30638=) c.73528A= (p.Lys24510=) c.95023A= (p.Lys31675=) c.95020A= (p.Lys31674=) c.94453A= (p.Lys31485=) c.91795A= (p.Lys30599=) c.91714A= (p.Lys30572=) c.73477A= (p.Lys24493=) c.63331A= (p.Lys21111=) | |
| 2 | g.178536166G>A | CA430238393 | TTN,TTN-AS1 | c.92877C>T (p.Val30959=) c.73962C>T (p.Val24654=) c.73761C>T (p.Val24587=) c.73386C>T (p.Val24462=) c.100581C>T (p.Val33527=) c.95658C>T (p.Val31886=) n.446+12530G>A n.316+338G>A c.99678C>T (p.Val33226=) c.73572C>T (p.Val24524=) c.73431C>T (p.Val24477=) c.99474C>T (p.Val33158=) c.94872C>T (p.Val31624=) c.94869C>T (p.Val31623=) c.91911C>T (p.Val30637=) c.73527C>T (p.Val24509=) c.95022C>T (p.Val31674=) c.95019C>T (p.Val31673=) c.94452C>T (p.Val31484=) c.91794C>T (p.Val30598=) c.91713C>T (p.Val30571=) c.73476C>T (p.Val24492=) c.63330C>T (p.Val21110=) | gnomAD v4 |
| 2 | g.178536166G>C | CA430238386 | TTN,TTN-AS1 | c.92877C>G (p.Val30959=) c.73962C>G (p.Val24654=) c.73761C>G (p.Val24587=) c.73386C>G (p.Val24462=) c.100581C>G (p.Val33527=) c.95658C>G (p.Val31886=) n.446+12530G>C n.316+338G>C c.99678C>G (p.Val33226=) c.73572C>G (p.Val24524=) c.73431C>G (p.Val24477=) c.99474C>G (p.Val33158=) c.94872C>G (p.Val31624=) c.94869C>G (p.Val31623=) c.91911C>G (p.Val30637=) c.73527C>G (p.Val24509=) c.95022C>G (p.Val31674=) c.95019C>G (p.Val31673=) c.94452C>G (p.Val31484=) c.91794C>G (p.Val30598=) c.91713C>G (p.Val30571=) c.73476C>G (p.Val24492=) c.63330C>G (p.Val21110=) | dbSNP |
| 2 | g.178536166G>T | CA430238384 | TTN,TTN-AS1 | c.92877C>A (p.Val30959=) c.73962C>A (p.Val24654=) c.73761C>A (p.Val24587=) c.73386C>A (p.Val24462=) c.100581C>A (p.Val33527=) c.95658C>A (p.Val31886=) n.446+12530G>T n.316+338G>T c.99678C>A (p.Val33226=) c.73572C>A (p.Val24524=) c.73431C>A (p.Val24477=) c.99474C>A (p.Val33158=) c.94872C>A (p.Val31624=) c.94869C>A (p.Val31623=) c.91911C>A (p.Val30637=) c.73527C>A (p.Val24509=) c.95022C>A (p.Val31674=) c.95019C>A (p.Val31673=) c.94452C>A (p.Val31484=) c.91794C>A (p.Val30598=) c.91713C>A (p.Val30571=) c.73476C>A (p.Val24492=) c.63330C>A (p.Val21110=) | |
| 2 | g.178536167A>C | CA349425392 | TTN,TTN-AS1 | c.92876T>G (p.Val30959Gly) c.73961T>G (p.Val24654Gly) c.73760T>G (p.Val24587Gly) c.73385T>G (p.Val24462Gly) c.100580T>G (p.Val33527Gly) c.95657T>G (p.Val31886Gly) n.446+12531A>C n.316+339A>C c.99677T>G (p.Val33226Gly) c.73571T>G (p.Val24524Gly) c.73430T>G (p.Val24477Gly) c.99473T>G (p.Val33158Gly) c.94871T>G (p.Val31624Gly) c.94868T>G (p.Val31623Gly) c.91910T>G (p.Val30637Gly) c.73526T>G (p.Val24509Gly) c.95021T>G (p.Val31674Gly) c.95018T>G (p.Val31673Gly) c.94451T>G (p.Val31484Gly) c.91793T>G (p.Val30598Gly) c.91712T>G (p.Val30571Gly) c.73475T>G (p.Val24492Gly) c.63329T>G (p.Val21110Gly) | |
| 2 | g.178536167A>G | CA349425394 | TTN,TTN-AS1 | c.92876T>C (p.Val30959Ala) c.73961T>C (p.Val24654Ala) c.73760T>C (p.Val24587Ala) c.73385T>C (p.Val24462Ala) c.100580T>C (p.Val33527Ala) c.95657T>C (p.Val31886Ala) n.446+12531A>G n.316+339A>G c.99677T>C (p.Val33226Ala) c.73571T>C (p.Val24524Ala) c.73430T>C (p.Val24477Ala) c.99473T>C (p.Val33158Ala) c.94871T>C (p.Val31624Ala) c.94868T>C (p.Val31623Ala) c.91910T>C (p.Val30637Ala) c.73526T>C (p.Val24509Ala) c.95021T>C (p.Val31674Ala) c.95018T>C (p.Val31673Ala) c.94451T>C (p.Val31484Ala) c.91793T>C (p.Val30598Ala) c.91712T>C (p.Val30571Ala) c.73475T>C (p.Val24492Ala) c.63329T>C (p.Val21110Ala) | |
| 2 | g.178536167A>T | CA349425393 | TTN,TTN-AS1 | c.92876T>A (p.Val30959Asp) c.73961T>A (p.Val24654Asp) c.73760T>A (p.Val24587Asp) c.73385T>A (p.Val24462Asp) c.100580T>A (p.Val33527Asp) c.95657T>A (p.Val31886Asp) n.446+12531A>T n.316+339A>T c.99677T>A (p.Val33226Asp) c.73571T>A (p.Val24524Asp) c.73430T>A (p.Val24477Asp) c.99473T>A (p.Val33158Asp) c.94871T>A (p.Val31624Asp) c.94868T>A (p.Val31623Asp) c.91910T>A (p.Val30637Asp) c.73526T>A (p.Val24509Asp) c.95021T>A (p.Val31674Asp) c.95018T>A (p.Val31673Asp) c.94451T>A (p.Val31484Asp) c.91793T>A (p.Val30598Asp) c.91712T>A (p.Val30571Asp) c.73475T>A (p.Val24492Asp) c.63329T>A (p.Val21110Asp) | |
| 2 | g.178536168C>A | CA349425396 | TTN,TTN-AS1 | c.92875G>T (p.Val30959Phe) c.73960G>T (p.Val24654Phe) c.73759G>T (p.Val24587Phe) c.73384G>T (p.Val24462Phe) c.100579G>T (p.Val33527Phe) c.95656G>T (p.Val31886Phe) n.446+12532C>A n.316+340C>A c.99676G>T (p.Val33226Phe) c.73570G>T (p.Val24524Phe) c.73429G>T (p.Val24477Phe) c.99472G>T (p.Val33158Phe) c.94870G>T (p.Val31624Phe) c.94867G>T (p.Val31623Phe) c.91909G>T (p.Val30637Phe) c.73525G>T (p.Val24509Phe) c.95020G>T (p.Val31674Phe) c.95017G>T (p.Val31673Phe) c.94450G>T (p.Val31484Phe) c.91792G>T (p.Val30598Phe) c.91711G>T (p.Val30571Phe) c.73474G>T (p.Val24492Phe) c.63328G>T (p.Val21110Phe) | |
| 2 | g.178536168C= | CA1310514630 | TTN,TTN-AS1 | c.92875G= (p.Val30959=) c.73960G= (p.Val24654=) c.73759G= (p.Val24587=) c.73384G= (p.Val24462=) c.100579G= (p.Val33527=) c.95656G= (p.Val31886=) n.446+12532C= n.316+340C= c.99676G= (p.Val33226=) c.73570G= (p.Val24524=) c.73429G= (p.Val24477=) c.99472G= (p.Val33158=) c.94870G= (p.Val31624=) c.94867G= (p.Val31623=) c.91909G= (p.Val30637=) c.73525G= (p.Val24509=) c.95020G= (p.Val31674=) c.95017G= (p.Val31673=) c.94450G= (p.Val31484=) c.91792G= (p.Val30598=) c.91711G= (p.Val30571=) c.73474G= (p.Val24492=) c.63328G= (p.Val21110=) | |
| 2 | g.178536168C>G | CA349425397 | TTN,TTN-AS1 | c.92875G>C (p.Val30959Leu) c.73960G>C (p.Val24654Leu) c.73759G>C (p.Val24587Leu) c.73384G>C (p.Val24462Leu) c.100579G>C (p.Val33527Leu) c.95656G>C (p.Val31886Leu) n.446+12532C>G n.316+340C>G c.99676G>C (p.Val33226Leu) c.73570G>C (p.Val24524Leu) c.73429G>C (p.Val24477Leu) c.99472G>C (p.Val33158Leu) c.94870G>C (p.Val31624Leu) c.94867G>C (p.Val31623Leu) c.91909G>C (p.Val30637Leu) c.73525G>C (p.Val24509Leu) c.95020G>C (p.Val31674Leu) c.95017G>C (p.Val31673Leu) c.94450G>C (p.Val31484Leu) c.91792G>C (p.Val30598Leu) c.91711G>C (p.Val30571Leu) c.73474G>C (p.Val24492Leu) c.63328G>C (p.Val21110Leu) | |
| 2 | g.178536168C>T | CA284227 | TTN,TTN-AS1 | c.92875G>A (p.Val30959Ile) c.73960G>A (p.Val24654Ile) c.73759G>A (p.Val24587Ile) c.73384G>A (p.Val24462Ile) c.100579G>A (p.Val33527Ile) c.95656G>A (p.Val31886Ile) n.446+12532C>T n.316+340C>T c.99676G>A (p.Val33226Ile) c.73570G>A (p.Val24524Ile) c.73429G>A (p.Val24477Ile) c.99472G>A (p.Val33158Ile) c.94870G>A (p.Val31624Ile) c.94867G>A (p.Val31623Ile) c.91909G>A (p.Val30637Ile) c.73525G>A (p.Val24509Ile) c.95020G>A (p.Val31674Ile) c.95017G>A (p.Val31673Ile) c.94450G>A (p.Val31484Ile) c.91792G>A (p.Val30598Ile) c.91711G>A (p.Val30571Ile) c.73474G>A (p.Val24492Ile) c.63328G>A (p.Val21110Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.178536169G>A | CA1986017 | TTN,TTN-AS1 | c.92874C>T (p.Ile30958=) c.73959C>T (p.Ile24653=) c.73758C>T (p.Ile24586=) c.73383C>T (p.Ile24461=) c.100578C>T (p.Ile33526=) c.95655C>T (p.Ile31885=) n.446+12533G>A n.316+341G>A c.99675C>T (p.Ile33225=) c.73569C>T (p.Ile24523=) c.73428C>T (p.Ile24476=) c.99471C>T (p.Ile33157=) c.94869C>T (p.Ile31623=) c.94866C>T (p.Ile31622=) c.91908C>T (p.Ile30636=) c.73524C>T (p.Ile24508=) c.95019C>T (p.Ile31673=) c.95016C>T (p.Ile31672=) c.94449C>T (p.Ile31483=) c.91791C>T (p.Ile30597=) c.91710C>T (p.Ile30570=) c.73473C>T (p.Ile24491=) c.63327C>T (p.Ile21109=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.178536169G>C | CA349425400 | TTN,TTN-AS1 | c.92874C>G (p.Ile30958Met) c.73959C>G (p.Ile24653Met) c.73758C>G (p.Ile24586Met) c.73383C>G (p.Ile24461Met) c.100578C>G (p.Ile33526Met) c.95655C>G (p.Ile31885Met) n.446+12533G>C n.316+341G>C c.99675C>G (p.Ile33225Met) c.73569C>G (p.Ile24523Met) c.73428C>G (p.Ile24476Met) c.99471C>G (p.Ile33157Met) c.94869C>G (p.Ile31623Met) c.94866C>G (p.Ile31622Met) c.91908C>G (p.Ile30636Met) c.73524C>G (p.Ile24508Met) c.95019C>G (p.Ile31673Met) c.95016C>G (p.Ile31672Met) c.94449C>G (p.Ile31483Met) c.91791C>G (p.Ile30597Met) c.91710C>G (p.Ile30570Met) c.73473C>G (p.Ile24491Met) c.63327C>G (p.Ile21109Met) | gnomAD v4 |
| 2 | g.178536169G= | CA1310514632 | TTN,TTN-AS1 | c.92874C= (p.Ile30958=) c.73959C= (p.Ile24653=) c.73758C= (p.Ile24586=) c.73383C= (p.Ile24461=) c.100578C= (p.Ile33526=) c.95655C= (p.Ile31885=) n.446+12533G= n.316+341G= c.99675C= (p.Ile33225=) c.73569C= (p.Ile24523=) c.73428C= (p.Ile24476=) c.99471C= (p.Ile33157=) c.94869C= (p.Ile31623=) c.94866C= (p.Ile31622=) c.91908C= (p.Ile30636=) c.73524C= (p.Ile24508=) c.95019C= (p.Ile31673=) c.95016C= (p.Ile31672=) c.94449C= (p.Ile31483=) c.91791C= (p.Ile30597=) c.91710C= (p.Ile30570=) c.73473C= (p.Ile24491=) c.63327C= (p.Ile21109=) | |
| 2 | g.178536169G>T | CA430238401 | TTN,TTN-AS1 | c.92874C>A (p.Ile30958=) c.73959C>A (p.Ile24653=) c.73758C>A (p.Ile24586=) c.73383C>A (p.Ile24461=) c.100578C>A (p.Ile33526=) c.95655C>A (p.Ile31885=) n.446+12533G>T n.316+341G>T c.99675C>A (p.Ile33225=) c.73569C>A (p.Ile24523=) c.73428C>A (p.Ile24476=) c.99471C>A (p.Ile33157=) c.94869C>A (p.Ile31623=) c.94866C>A (p.Ile31622=) c.91908C>A (p.Ile30636=) c.73524C>A (p.Ile24508=) c.95019C>A (p.Ile31673=) c.95016C>A (p.Ile31672=) c.94449C>A (p.Ile31483=) c.91791C>A (p.Ile30597=) c.91710C>A (p.Ile30570=) c.73473C>A (p.Ile24491=) c.63327C>A (p.Ile21109=) | |
| 2 | g.178536170A>C | CA349425402 | TTN,TTN-AS1 | c.92873T>G (p.Ile30958Ser) c.73958T>G (p.Ile24653Ser) c.73757T>G (p.Ile24586Ser) c.73382T>G (p.Ile24461Ser) c.100577T>G (p.Ile33526Ser) c.95654T>G (p.Ile31885Ser) n.446+12534A>C n.316+342A>C c.99674T>G (p.Ile33225Ser) c.73568T>G (p.Ile24523Ser) c.73427T>G (p.Ile24476Ser) c.99470T>G (p.Ile33157Ser) c.94868T>G (p.Ile31623Ser) c.94865T>G (p.Ile31622Ser) c.91907T>G (p.Ile30636Ser) c.73523T>G (p.Ile24508Ser) c.95018T>G (p.Ile31673Ser) c.95015T>G (p.Ile31672Ser) c.94448T>G (p.Ile31483Ser) c.91790T>G (p.Ile30597Ser) c.91709T>G (p.Ile30570Ser) c.73472T>G (p.Ile24491Ser) c.63326T>G (p.Ile21109Ser) | |
| 2 | g.178536170A>G | CA349425404 | TTN,TTN-AS1 | c.92873T>C (p.Ile30958Thr) c.73958T>C (p.Ile24653Thr) c.73757T>C (p.Ile24586Thr) c.73382T>C (p.Ile24461Thr) c.100577T>C (p.Ile33526Thr) c.95654T>C (p.Ile31885Thr) n.446+12534A>G n.316+342A>G c.99674T>C (p.Ile33225Thr) c.73568T>C (p.Ile24523Thr) c.73427T>C (p.Ile24476Thr) c.99470T>C (p.Ile33157Thr) c.94868T>C (p.Ile31623Thr) c.94865T>C (p.Ile31622Thr) c.91907T>C (p.Ile30636Thr) c.73523T>C (p.Ile24508Thr) c.95018T>C (p.Ile31673Thr) c.95015T>C (p.Ile31672Thr) c.94448T>C (p.Ile31483Thr) c.91790T>C (p.Ile30597Thr) c.91709T>C (p.Ile30570Thr) c.73472T>C (p.Ile24491Thr) c.63326T>C (p.Ile21109Thr) | gnomAD v4 |
| 2 | g.178536170A>T | CA349425405 | TTN,TTN-AS1 | c.92873T>A (p.Ile30958Asn) c.73958T>A (p.Ile24653Asn) c.73757T>A (p.Ile24586Asn) c.73382T>A (p.Ile24461Asn) c.100577T>A (p.Ile33526Asn) c.95654T>A (p.Ile31885Asn) n.446+12534A>T n.316+342A>T c.99674T>A (p.Ile33225Asn) c.73568T>A (p.Ile24523Asn) c.73427T>A (p.Ile24476Asn) c.99470T>A (p.Ile33157Asn) c.94868T>A (p.Ile31623Asn) c.94865T>A (p.Ile31622Asn) c.91907T>A (p.Ile30636Asn) c.73523T>A (p.Ile24508Asn) c.95018T>A (p.Ile31673Asn) c.95015T>A (p.Ile31672Asn) c.94448T>A (p.Ile31483Asn) c.91790T>A (p.Ile30597Asn) c.91709T>A (p.Ile30570Asn) c.73472T>A (p.Ile24491Asn) c.63326T>A (p.Ile21109Asn) | |
| 2 | g.178536171T>A | CA349425407 | TTN,TTN-AS1 | c.92872A>T (p.Ile30958Phe) c.73957A>T (p.Ile24653Phe) c.73756A>T (p.Ile24586Phe) c.73381A>T (p.Ile24461Phe) c.100576A>T (p.Ile33526Phe) c.95653A>T (p.Ile31885Phe) n.446+12535T>A n.316+343T>A c.99673A>T (p.Ile33225Phe) c.73567A>T (p.Ile24523Phe) c.73426A>T (p.Ile24476Phe) c.99469A>T (p.Ile33157Phe) c.94867A>T (p.Ile31623Phe) c.94864A>T (p.Ile31622Phe) c.91906A>T (p.Ile30636Phe) c.73522A>T (p.Ile24508Phe) c.95017A>T (p.Ile31673Phe) c.95014A>T (p.Ile31672Phe) c.94447A>T (p.Ile31483Phe) c.91789A>T (p.Ile30597Phe) c.91708A>T (p.Ile30570Phe) c.73471A>T (p.Ile24491Phe) c.63325A>T (p.Ile21109Phe) | |
| 2 | g.178536171T>C | CA349425409 | TTN,TTN-AS1 | c.92872A>G (p.Ile30958Val) c.73957A>G (p.Ile24653Val) c.73756A>G (p.Ile24586Val) c.73381A>G (p.Ile24461Val) c.100576A>G (p.Ile33526Val) c.95653A>G (p.Ile31885Val) n.446+12535T>C n.316+343T>C c.99673A>G (p.Ile33225Val) c.73567A>G (p.Ile24523Val) c.73426A>G (p.Ile24476Val) c.99469A>G (p.Ile33157Val) c.94867A>G (p.Ile31623Val) c.94864A>G (p.Ile31622Val) c.91906A>G (p.Ile30636Val) c.73522A>G (p.Ile24508Val) c.95017A>G (p.Ile31673Val) c.95014A>G (p.Ile31672Val) c.94447A>G (p.Ile31483Val) c.91789A>G (p.Ile30597Val) c.91708A>G (p.Ile30570Val) c.73471A>G (p.Ile24491Val) c.63325A>G (p.Ile21109Val) | gnomAD v4 |
| 2 | g.178536171T>G | CA349425410 | TTN,TTN-AS1 | c.92872A>C (p.Ile30958Leu) c.73957A>C (p.Ile24653Leu) c.73756A>C (p.Ile24586Leu) c.73381A>C (p.Ile24461Leu) c.100576A>C (p.Ile33526Leu) c.95653A>C (p.Ile31885Leu) n.446+12535T>G n.316+343T>G c.99673A>C (p.Ile33225Leu) c.73567A>C (p.Ile24523Leu) c.73426A>C (p.Ile24476Leu) c.99469A>C (p.Ile33157Leu) c.94867A>C (p.Ile31623Leu) c.94864A>C (p.Ile31622Leu) c.91906A>C (p.Ile30636Leu) c.73522A>C (p.Ile24508Leu) c.95017A>C (p.Ile31673Leu) c.95014A>C (p.Ile31672Leu) c.94447A>C (p.Ile31483Leu) c.91789A>C (p.Ile30597Leu) c.91708A>C (p.Ile30570Leu) c.73471A>C (p.Ile24491Leu) c.63325A>C (p.Ile21109Leu) | |
| 2 | g.178536172A>C | CA430238406 | TTN,TTN-AS1 | c.92871T>G (p.Pro30957=) c.73956T>G (p.Pro24652=) c.73755T>G (p.Pro24585=) c.73380T>G (p.Pro24460=) c.100575T>G (p.Pro33525=) c.95652T>G (p.Pro31884=) n.446+12536A>C n.316+344A>C c.99672T>G (p.Pro33224=) c.73566T>G (p.Pro24522=) c.73425T>G (p.Pro24475=) c.99468T>G (p.Pro33156=) c.94866T>G (p.Pro31622=) c.94863T>G (p.Pro31621=) c.91905T>G (p.Pro30635=) c.73521T>G (p.Pro24507=) c.95016T>G (p.Pro31672=) c.95013T>G (p.Pro31671=) c.94446T>G (p.Pro31482=) c.91788T>G (p.Pro30596=) c.91707T>G (p.Pro30569=) c.73470T>G (p.Pro24490=) c.63324T>G (p.Pro21108=) | |
| 2 | g.178536172A>G | CA430238410 | TTN,TTN-AS1 | c.92871T>C (p.Pro30957=) c.73956T>C (p.Pro24652=) c.73755T>C (p.Pro24585=) c.73380T>C (p.Pro24460=) c.100575T>C (p.Pro33525=) c.95652T>C (p.Pro31884=) n.446+12536A>G n.316+344A>G c.99672T>C (p.Pro33224=) c.73566T>C (p.Pro24522=) c.73425T>C (p.Pro24475=) c.99468T>C (p.Pro33156=) c.94866T>C (p.Pro31622=) c.94863T>C (p.Pro31621=) c.91905T>C (p.Pro30635=) c.73521T>C (p.Pro24507=) c.95016T>C (p.Pro31672=) c.95013T>C (p.Pro31671=) c.94446T>C (p.Pro31482=) c.91788T>C (p.Pro30596=) c.91707T>C (p.Pro30569=) c.73470T>C (p.Pro24490=) c.63324T>C (p.Pro21108=) | |
| 2 | g.178536172A>T | CA430238408 | TTN,TTN-AS1 | c.92871T>A (p.Pro30957=) c.73956T>A (p.Pro24652=) c.73755T>A (p.Pro24585=) c.73380T>A (p.Pro24460=) c.100575T>A (p.Pro33525=) c.95652T>A (p.Pro31884=) n.446+12536A>T n.316+344A>T c.99672T>A (p.Pro33224=) c.73566T>A (p.Pro24522=) c.73425T>A (p.Pro24475=) c.99468T>A (p.Pro33156=) c.94866T>A (p.Pro31622=) c.94863T>A (p.Pro31621=) c.91905T>A (p.Pro30635=) c.73521T>A (p.Pro24507=) c.95016T>A (p.Pro31672=) c.95013T>A (p.Pro31671=) c.94446T>A (p.Pro31482=) c.91788T>A (p.Pro30596=) c.91707T>A (p.Pro30569=) c.73470T>A (p.Pro24490=) c.63324T>A (p.Pro21108=) | dbSNP |
| 2 | g.178536173G>A | CA349425414 | TTN,TTN-AS1 | c.92870C>T (p.Pro30957Leu) c.73955C>T (p.Pro24652Leu) c.73754C>T (p.Pro24585Leu) c.73379C>T (p.Pro24460Leu) c.100574C>T (p.Pro33525Leu) c.95651C>T (p.Pro31884Leu) n.446+12537G>A n.316+345G>A c.99671C>T (p.Pro33224Leu) c.73565C>T (p.Pro24522Leu) c.73424C>T (p.Pro24475Leu) c.99467C>T (p.Pro33156Leu) c.94865C>T (p.Pro31622Leu) c.94862C>T (p.Pro31621Leu) c.91904C>T (p.Pro30635Leu) c.73520C>T (p.Pro24507Leu) c.95015C>T (p.Pro31672Leu) c.95012C>T (p.Pro31671Leu) c.94445C>T (p.Pro31482Leu) c.91787C>T (p.Pro30596Leu) c.91706C>T (p.Pro30569Leu) c.73469C>T (p.Pro24490Leu) c.63323C>T (p.Pro21108Leu) | |
| 2 | g.178536173G>C | CA349425413 | TTN,TTN-AS1 | c.92870C>G (p.Pro30957Arg) c.73955C>G (p.Pro24652Arg) c.73754C>G (p.Pro24585Arg) c.73379C>G (p.Pro24460Arg) c.100574C>G (p.Pro33525Arg) c.95651C>G (p.Pro31884Arg) n.446+12537G>C n.316+345G>C c.99671C>G (p.Pro33224Arg) c.73565C>G (p.Pro24522Arg) c.73424C>G (p.Pro24475Arg) c.99467C>G (p.Pro33156Arg) c.94865C>G (p.Pro31622Arg) c.94862C>G (p.Pro31621Arg) c.91904C>G (p.Pro30635Arg) c.73520C>G (p.Pro24507Arg) c.95015C>G (p.Pro31672Arg) c.95012C>G (p.Pro31671Arg) c.94445C>G (p.Pro31482Arg) c.91787C>G (p.Pro30596Arg) c.91706C>G (p.Pro30569Arg) c.73469C>G (p.Pro24490Arg) c.63323C>G (p.Pro21108Arg) | dbSNP |
| 2 | g.178536173G= | CA1310514634 | TTN,TTN-AS1 | c.92870C= (p.Pro30957=) c.73955C= (p.Pro24652=) c.73754C= (p.Pro24585=) c.73379C= (p.Pro24460=) c.100574C= (p.Pro33525=) c.95651C= (p.Pro31884=) n.446+12537G= n.316+345G= c.99671C= (p.Pro33224=) c.73565C= (p.Pro24522=) c.73424C= (p.Pro24475=) c.99467C= (p.Pro33156=) c.94865C= (p.Pro31622=) c.94862C= (p.Pro31621=) c.91904C= (p.Pro30635=) c.73520C= (p.Pro24507=) c.95015C= (p.Pro31672=) c.95012C= (p.Pro31671=) c.94445C= (p.Pro31482=) c.91787C= (p.Pro30596=) c.91706C= (p.Pro30569=) c.73469C= (p.Pro24490=) c.63323C= (p.Pro21108=) | |
| 2 | g.178536173G>T | CA349425411 | TTN,TTN-AS1 | c.92870C>A (p.Pro30957His) c.73955C>A (p.Pro24652His) c.73754C>A (p.Pro24585His) c.73379C>A (p.Pro24460His) c.100574C>A (p.Pro33525His) c.95651C>A (p.Pro31884His) n.446+12537G>T n.316+345G>T c.99671C>A (p.Pro33224His) c.73565C>A (p.Pro24522His) c.73424C>A (p.Pro24475His) c.99467C>A (p.Pro33156His) c.94865C>A (p.Pro31622His) c.94862C>A (p.Pro31621His) c.91904C>A (p.Pro30635His) c.73520C>A (p.Pro24507His) c.95015C>A (p.Pro31672His) c.95012C>A (p.Pro31671His) c.94445C>A (p.Pro31482His) c.91787C>A (p.Pro30596His) c.91706C>A (p.Pro30569His) c.73469C>A (p.Pro24490His) c.63323C>A (p.Pro21108His) | |
| 2 | g.178536174G>A | CA349425416 | TTN,TTN-AS1 | c.92869C>T (p.Pro30957Ser) c.73954C>T (p.Pro24652Ser) c.73753C>T (p.Pro24585Ser) c.73378C>T (p.Pro24460Ser) c.100573C>T (p.Pro33525Ser) c.95650C>T (p.Pro31884Ser) n.446+12538G>A n.316+346G>A c.99670C>T (p.Pro33224Ser) c.73564C>T (p.Pro24522Ser) c.73423C>T (p.Pro24475Ser) c.99466C>T (p.Pro33156Ser) c.94864C>T (p.Pro31622Ser) c.94861C>T (p.Pro31621Ser) c.91903C>T (p.Pro30635Ser) c.73519C>T (p.Pro24507Ser) c.95014C>T (p.Pro31672Ser) c.95011C>T (p.Pro31671Ser) c.94444C>T (p.Pro31482Ser) c.91786C>T (p.Pro30596Ser) c.91705C>T (p.Pro30569Ser) c.73468C>T (p.Pro24490Ser) c.63322C>T (p.Pro21108Ser) | gnomAD v3 gnomAD v4 |