| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.178591117G>A | CA1992469 | TTN,TTN-AS1 | c.52904C>T (p.Pro17635Leu) c.33989C>T (p.Pro11330Leu) c.33788C>T (p.Pro11263Leu) c.33413C>T (p.Pro11138Leu) c.60608C>T (p.Pro20203Leu) c.55685C>T (p.Pro18562Leu) n.597-6479G>A n.3189-22G>A c.59705C>T (p.Pro19902Leu) c.33599C>T (p.Pro11200Leu) c.33458C>T (p.Pro11153Leu) c.59501C>T (p.Pro19834Leu) c.54899C>T (p.Pro18300Leu) c.54896C>T (p.Pro18299Leu) c.51938C>T (p.Pro17313Leu) c.33554C>T (p.Pro11185Leu) c.55049C>T (p.Pro18350Leu) c.55046C>T (p.Pro18349Leu) c.54479C>T (p.Pro18160Leu) c.51821C>T (p.Pro17274Leu) c.51740C>T (p.Pro17247Leu) c.33503C>T (p.Pro11168Leu) c.23357C>T (p.Pro7786Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.178591117G>C | CA349483597 | TTN,TTN-AS1 | c.52904C>G (p.Pro17635Arg) c.33989C>G (p.Pro11330Arg) c.33788C>G (p.Pro11263Arg) c.33413C>G (p.Pro11138Arg) c.60608C>G (p.Pro20203Arg) c.55685C>G (p.Pro18562Arg) n.597-6479G>C n.3189-22G>C c.59705C>G (p.Pro19902Arg) c.33599C>G (p.Pro11200Arg) c.33458C>G (p.Pro11153Arg) c.59501C>G (p.Pro19834Arg) c.54899C>G (p.Pro18300Arg) c.54896C>G (p.Pro18299Arg) c.51938C>G (p.Pro17313Arg) c.33554C>G (p.Pro11185Arg) c.55049C>G (p.Pro18350Arg) c.55046C>G (p.Pro18349Arg) c.54479C>G (p.Pro18160Arg) c.51821C>G (p.Pro17274Arg) c.51740C>G (p.Pro17247Arg) c.33503C>G (p.Pro11168Arg) c.23357C>G (p.Pro7786Arg) | |
| 2 | g.178591117G= | CA1310539833 | TTN,TTN-AS1 | c.52904C= (p.Pro17635=) c.33989C= (p.Pro11330=) c.33788C= (p.Pro11263=) c.33413C= (p.Pro11138=) c.60608C= (p.Pro20203=) c.55685C= (p.Pro18562=) n.597-6479G= n.3189-22G= c.59705C= (p.Pro19902=) c.33599C= (p.Pro11200=) c.33458C= (p.Pro11153=) c.59501C= (p.Pro19834=) c.54899C= (p.Pro18300=) c.54896C= (p.Pro18299=) c.51938C= (p.Pro17313=) c.33554C= (p.Pro11185=) c.55049C= (p.Pro18350=) c.55046C= (p.Pro18349=) c.54479C= (p.Pro18160=) c.51821C= (p.Pro17274=) c.51740C= (p.Pro17247=) c.33503C= (p.Pro11168=) c.23357C= (p.Pro7786=) | |
| 2 | g.178591117G>T | CA349483594 | TTN,TTN-AS1 | c.52904C>A (p.Pro17635His) c.33989C>A (p.Pro11330His) c.33788C>A (p.Pro11263His) c.33413C>A (p.Pro11138His) c.60608C>A (p.Pro20203His) c.55685C>A (p.Pro18562His) n.597-6479G>T n.3189-22G>T c.59705C>A (p.Pro19902His) c.33599C>A (p.Pro11200His) c.33458C>A (p.Pro11153His) c.59501C>A (p.Pro19834His) c.54899C>A (p.Pro18300His) c.54896C>A (p.Pro18299His) c.51938C>A (p.Pro17313His) c.33554C>A (p.Pro11185His) c.55049C>A (p.Pro18350His) c.55046C>A (p.Pro18349His) c.54479C>A (p.Pro18160His) c.51821C>A (p.Pro17274His) c.51740C>A (p.Pro17247His) c.33503C>A (p.Pro11168His) c.23357C>A (p.Pro7786His) | |
| 2 | g.178591118G>A | CA1992470 | TTN,TTN-AS1 | c.52903C>T (p.Pro17635Ser) c.33988C>T (p.Pro11330Ser) c.33787C>T (p.Pro11263Ser) c.33412C>T (p.Pro11138Ser) c.60607C>T (p.Pro20203Ser) c.55684C>T (p.Pro18562Ser) n.597-6478G>A n.3189-21G>A c.59704C>T (p.Pro19902Ser) c.33598C>T (p.Pro11200Ser) c.33457C>T (p.Pro11153Ser) c.59500C>T (p.Pro19834Ser) c.54898C>T (p.Pro18300Ser) c.54895C>T (p.Pro18299Ser) c.51937C>T (p.Pro17313Ser) c.33553C>T (p.Pro11185Ser) c.55048C>T (p.Pro18350Ser) c.55045C>T (p.Pro18349Ser) c.54478C>T (p.Pro18160Ser) c.51820C>T (p.Pro17274Ser) c.51739C>T (p.Pro17247Ser) c.33502C>T (p.Pro11168Ser) c.23356C>T (p.Pro7786Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.178591118G>C | CA349483600 | TTN,TTN-AS1 | c.52903C>G (p.Pro17635Ala) c.33988C>G (p.Pro11330Ala) c.33787C>G (p.Pro11263Ala) c.33412C>G (p.Pro11138Ala) c.60607C>G (p.Pro20203Ala) c.55684C>G (p.Pro18562Ala) n.597-6478G>C n.3189-21G>C c.59704C>G (p.Pro19902Ala) c.33598C>G (p.Pro11200Ala) c.33457C>G (p.Pro11153Ala) c.59500C>G (p.Pro19834Ala) c.54898C>G (p.Pro18300Ala) c.54895C>G (p.Pro18299Ala) c.51937C>G (p.Pro17313Ala) c.33553C>G (p.Pro11185Ala) c.55048C>G (p.Pro18350Ala) c.55045C>G (p.Pro18349Ala) c.54478C>G (p.Pro18160Ala) c.51820C>G (p.Pro17274Ala) c.51739C>G (p.Pro17247Ala) c.33502C>G (p.Pro11168Ala) c.23356C>G (p.Pro7786Ala) | gnomAD v4 |
| 2 | g.178591118G= | CA1310539835 | TTN,TTN-AS1 | c.52903C= (p.Pro17635=) c.33988C= (p.Pro11330=) c.33787C= (p.Pro11263=) c.33412C= (p.Pro11138=) c.60607C= (p.Pro20203=) c.55684C= (p.Pro18562=) n.597-6478G= n.3189-21G= c.59704C= (p.Pro19902=) c.33598C= (p.Pro11200=) c.33457C= (p.Pro11153=) c.59500C= (p.Pro19834=) c.54898C= (p.Pro18300=) c.54895C= (p.Pro18299=) c.51937C= (p.Pro17313=) c.33553C= (p.Pro11185=) c.55048C= (p.Pro18350=) c.55045C= (p.Pro18349=) c.54478C= (p.Pro18160=) c.51820C= (p.Pro17274=) c.51739C= (p.Pro17247=) c.33502C= (p.Pro11168=) c.23356C= (p.Pro7786=) | |
| 2 | g.178591118G>T | CA349483604 | TTN,TTN-AS1 | c.52903C>A (p.Pro17635Thr) c.33988C>A (p.Pro11330Thr) c.33787C>A (p.Pro11263Thr) c.33412C>A (p.Pro11138Thr) c.60607C>A (p.Pro20203Thr) c.55684C>A (p.Pro18562Thr) n.597-6478G>T n.3189-21G>T c.59704C>A (p.Pro19902Thr) c.33598C>A (p.Pro11200Thr) c.33457C>A (p.Pro11153Thr) c.59500C>A (p.Pro19834Thr) c.54898C>A (p.Pro18300Thr) c.54895C>A (p.Pro18299Thr) c.51937C>A (p.Pro17313Thr) c.33553C>A (p.Pro11185Thr) c.55048C>A (p.Pro18350Thr) c.55045C>A (p.Pro18349Thr) c.54478C>A (p.Pro18160Thr) c.51820C>A (p.Pro17274Thr) c.51739C>A (p.Pro17247Thr) c.33502C>A (p.Pro11168Thr) c.23356C>A (p.Pro7786Thr) | |
| 2 | g.178591119G>A | CA430266496 | TTN,TTN-AS1 | c.52902C>T (p.Ser17634=) c.33987C>T (p.Ser11329=) c.33786C>T (p.Ser11262=) c.33411C>T (p.Ser11137=) c.60606C>T (p.Ser20202=) c.55683C>T (p.Ser18561=) n.597-6477G>A n.3189-20G>A c.59703C>T (p.Ser19901=) c.33597C>T (p.Ser11199=) c.33456C>T (p.Ser11152=) c.59499C>T (p.Ser19833=) c.54897C>T (p.Ser18299=) c.54894C>T (p.Ser18298=) c.51936C>T (p.Ser17312=) c.33552C>T (p.Ser11184=) c.55047C>T (p.Ser18349=) c.55044C>T (p.Ser18348=) c.54477C>T (p.Ser18159=) c.51819C>T (p.Ser17273=) c.51738C>T (p.Ser17246=) c.33501C>T (p.Ser11167=) c.23355C>T (p.Ser7785=) | |
| 2 | g.178591119G>C | CA310179 | TTN,TTN-AS1 | c.52902C>G (p.Ser17634Arg) c.33987C>G (p.Ser11329Arg) c.33786C>G (p.Ser11262Arg) c.33411C>G (p.Ser11137Arg) c.60606C>G (p.Ser20202Arg) c.55683C>G (p.Ser18561Arg) n.597-6477G>C n.3189-20G>C c.59703C>G (p.Ser19901Arg) c.33597C>G (p.Ser11199Arg) c.33456C>G (p.Ser11152Arg) c.59499C>G (p.Ser19833Arg) c.54897C>G (p.Ser18299Arg) c.54894C>G (p.Ser18298Arg) c.51936C>G (p.Ser17312Arg) c.33552C>G (p.Ser11184Arg) c.55047C>G (p.Ser18349Arg) c.55044C>G (p.Ser18348Arg) c.54477C>G (p.Ser18159Arg) c.51819C>G (p.Ser17273Arg) c.51738C>G (p.Ser17246Arg) c.33501C>G (p.Ser11167Arg) c.23355C>G (p.Ser7785Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.178591119G= | CA1310539836 | TTN,TTN-AS1 | c.52902C= (p.Ser17634=) c.33987C= (p.Ser11329=) c.33786C= (p.Ser11262=) c.33411C= (p.Ser11137=) c.60606C= (p.Ser20202=) c.55683C= (p.Ser18561=) n.597-6477G= n.3189-20G= c.59703C= (p.Ser19901=) c.33597C= (p.Ser11199=) c.33456C= (p.Ser11152=) c.59499C= (p.Ser19833=) c.54897C= (p.Ser18299=) c.54894C= (p.Ser18298=) c.51936C= (p.Ser17312=) c.33552C= (p.Ser11184=) c.55047C= (p.Ser18349=) c.55044C= (p.Ser18348=) c.54477C= (p.Ser18159=) c.51819C= (p.Ser17273=) c.51738C= (p.Ser17246=) c.33501C= (p.Ser11167=) c.23355C= (p.Ser7785=) | |
| 2 | g.178591119G>T | CA349483610 | TTN,TTN-AS1 | c.52902C>A (p.Ser17634Arg) c.33987C>A (p.Ser11329Arg) c.33786C>A (p.Ser11262Arg) c.33411C>A (p.Ser11137Arg) c.60606C>A (p.Ser20202Arg) c.55683C>A (p.Ser18561Arg) n.597-6477G>T n.3189-20G>T c.59703C>A (p.Ser19901Arg) c.33597C>A (p.Ser11199Arg) c.33456C>A (p.Ser11152Arg) c.59499C>A (p.Ser19833Arg) c.54897C>A (p.Ser18299Arg) c.54894C>A (p.Ser18298Arg) c.51936C>A (p.Ser17312Arg) c.33552C>A (p.Ser11184Arg) c.55047C>A (p.Ser18349Arg) c.55044C>A (p.Ser18348Arg) c.54477C>A (p.Ser18159Arg) c.51819C>A (p.Ser17273Arg) c.51738C>A (p.Ser17246Arg) c.33501C>A (p.Ser11167Arg) c.23355C>A (p.Ser7785Arg) | |
| 2 | g.178591120C>A | CA349483612 | TTN,TTN-AS1 | c.52901G>T (p.Ser17634Ile) c.33986G>T (p.Ser11329Ile) c.33785G>T (p.Ser11262Ile) c.33410G>T (p.Ser11137Ile) c.60605G>T (p.Ser20202Ile) c.55682G>T (p.Ser18561Ile) n.597-6476C>A n.3189-19C>A c.59702G>T (p.Ser19901Ile) c.33596G>T (p.Ser11199Ile) c.33455G>T (p.Ser11152Ile) c.59498G>T (p.Ser19833Ile) c.54896G>T (p.Ser18299Ile) c.54893G>T (p.Ser18298Ile) c.51935G>T (p.Ser17312Ile) c.33551G>T (p.Ser11184Ile) c.55046G>T (p.Ser18349Ile) c.55043G>T (p.Ser18348Ile) c.54476G>T (p.Ser18159Ile) c.51818G>T (p.Ser17273Ile) c.51737G>T (p.Ser17246Ile) c.33500G>T (p.Ser11167Ile) c.23354G>T (p.Ser7785Ile) | |
| 2 | g.178591120C>G | CA349483613 | TTN,TTN-AS1 | c.52901G>C (p.Ser17634Thr) c.33986G>C (p.Ser11329Thr) c.33785G>C (p.Ser11262Thr) c.33410G>C (p.Ser11137Thr) c.60605G>C (p.Ser20202Thr) c.55682G>C (p.Ser18561Thr) n.597-6476C>G n.3189-19C>G c.59702G>C (p.Ser19901Thr) c.33596G>C (p.Ser11199Thr) c.33455G>C (p.Ser11152Thr) c.59498G>C (p.Ser19833Thr) c.54896G>C (p.Ser18299Thr) c.54893G>C (p.Ser18298Thr) c.51935G>C (p.Ser17312Thr) c.33551G>C (p.Ser11184Thr) c.55046G>C (p.Ser18349Thr) c.55043G>C (p.Ser18348Thr) c.54476G>C (p.Ser18159Thr) c.51818G>C (p.Ser17273Thr) c.51737G>C (p.Ser17246Thr) c.33500G>C (p.Ser11167Thr) c.23354G>C (p.Ser7785Thr) | |
| 2 | g.178591120C>T | CA349483615 | TTN,TTN-AS1 | c.52901G>A (p.Ser17634Asn) c.33986G>A (p.Ser11329Asn) c.33785G>A (p.Ser11262Asn) c.33410G>A (p.Ser11137Asn) c.60605G>A (p.Ser20202Asn) c.55682G>A (p.Ser18561Asn) n.597-6476C>T n.3189-19C>T c.59702G>A (p.Ser19901Asn) c.33596G>A (p.Ser11199Asn) c.33455G>A (p.Ser11152Asn) c.59498G>A (p.Ser19833Asn) c.54896G>A (p.Ser18299Asn) c.54893G>A (p.Ser18298Asn) c.51935G>A (p.Ser17312Asn) c.33551G>A (p.Ser11184Asn) c.55046G>A (p.Ser18349Asn) c.55043G>A (p.Ser18348Asn) c.54476G>A (p.Ser18159Asn) c.51818G>A (p.Ser17273Asn) c.51737G>A (p.Ser17246Asn) c.33500G>A (p.Ser11167Asn) c.23354G>A (p.Ser7785Asn) | |
| 2 | g.178591121T>A | CA349483617 | TTN,TTN-AS1 | c.52900A>T (p.Ser17634Cys) c.33985A>T (p.Ser11329Cys) c.33784A>T (p.Ser11262Cys) c.33409A>T (p.Ser11137Cys) c.60604A>T (p.Ser20202Cys) c.55681A>T (p.Ser18561Cys) n.597-6475T>A n.3189-18T>A c.59701A>T (p.Ser19901Cys) c.33595A>T (p.Ser11199Cys) c.33454A>T (p.Ser11152Cys) c.59497A>T (p.Ser19833Cys) c.54895A>T (p.Ser18299Cys) c.54892A>T (p.Ser18298Cys) c.51934A>T (p.Ser17312Cys) c.33550A>T (p.Ser11184Cys) c.55045A>T (p.Ser18349Cys) c.55042A>T (p.Ser18348Cys) c.54475A>T (p.Ser18159Cys) c.51817A>T (p.Ser17273Cys) c.51736A>T (p.Ser17246Cys) c.33499A>T (p.Ser11167Cys) c.23353A>T (p.Ser7785Cys) | |
| 2 | g.178591121T>C | CA349483620 | TTN,TTN-AS1 | c.52900A>G (p.Ser17634Gly) c.33985A>G (p.Ser11329Gly) c.33784A>G (p.Ser11262Gly) c.33409A>G (p.Ser11137Gly) c.60604A>G (p.Ser20202Gly) c.55681A>G (p.Ser18561Gly) n.597-6475T>C n.3189-18T>C c.59701A>G (p.Ser19901Gly) c.33595A>G (p.Ser11199Gly) c.33454A>G (p.Ser11152Gly) c.59497A>G (p.Ser19833Gly) c.54895A>G (p.Ser18299Gly) c.54892A>G (p.Ser18298Gly) c.51934A>G (p.Ser17312Gly) c.33550A>G (p.Ser11184Gly) c.55045A>G (p.Ser18349Gly) c.55042A>G (p.Ser18348Gly) c.54475A>G (p.Ser18159Gly) c.51817A>G (p.Ser17273Gly) c.51736A>G (p.Ser17246Gly) c.33499A>G (p.Ser11167Gly) c.23353A>G (p.Ser7785Gly) | |
| 2 | g.178591121T>G | CA349483622 | TTN,TTN-AS1 | c.52900A>C (p.Ser17634Arg) c.33985A>C (p.Ser11329Arg) c.33784A>C (p.Ser11262Arg) c.33409A>C (p.Ser11137Arg) c.60604A>C (p.Ser20202Arg) c.55681A>C (p.Ser18561Arg) n.597-6475T>G n.3189-18T>G c.59701A>C (p.Ser19901Arg) c.33595A>C (p.Ser11199Arg) c.33454A>C (p.Ser11152Arg) c.59497A>C (p.Ser19833Arg) c.54895A>C (p.Ser18299Arg) c.54892A>C (p.Ser18298Arg) c.51934A>C (p.Ser17312Arg) c.33550A>C (p.Ser11184Arg) c.55045A>C (p.Ser18349Arg) c.55042A>C (p.Ser18348Arg) c.54475A>C (p.Ser18159Arg) c.51817A>C (p.Ser17273Arg) c.51736A>C (p.Ser17246Arg) c.33499A>C (p.Ser11167Arg) c.23353A>C (p.Ser7785Arg) | COSMIC COSMIC COSMIC COSMIC |
| 2 | g.178591122T>A | CA430266499 | TTN,TTN-AS1 | c.52899A>T (p.Gly17633=) c.33984A>T (p.Gly11328=) c.33783A>T (p.Gly11261=) c.33408A>T (p.Gly11136=) c.60603A>T (p.Gly20201=) c.55680A>T (p.Gly18560=) n.597-6474T>A n.3189-17T>A c.59700A>T (p.Gly19900=) c.33594A>T (p.Gly11198=) c.33453A>T (p.Gly11151=) c.59496A>T (p.Gly19832=) c.54894A>T (p.Gly18298=) c.54891A>T (p.Gly18297=) c.51933A>T (p.Gly17311=) c.33549A>T (p.Gly11183=) c.55044A>T (p.Gly18348=) c.55041A>T (p.Gly18347=) c.54474A>T (p.Gly18158=) c.51816A>T (p.Gly17272=) c.51735A>T (p.Gly17245=) c.33498A>T (p.Gly11166=) c.23352A>T (p.Gly7784=) | |
| 2 | g.178591122T>C | CA430266501 | TTN,TTN-AS1 | c.52899A>G (p.Gly17633=) c.33984A>G (p.Gly11328=) c.33783A>G (p.Gly11261=) c.33408A>G (p.Gly11136=) c.60603A>G (p.Gly20201=) c.55680A>G (p.Gly18560=) n.597-6474T>C n.3189-17T>C c.59700A>G (p.Gly19900=) c.33594A>G (p.Gly11198=) c.33453A>G (p.Gly11151=) c.59496A>G (p.Gly19832=) c.54894A>G (p.Gly18298=) c.54891A>G (p.Gly18297=) c.51933A>G (p.Gly17311=) c.33549A>G (p.Gly11183=) c.55044A>G (p.Gly18348=) c.55041A>G (p.Gly18347=) c.54474A>G (p.Gly18158=) c.51816A>G (p.Gly17272=) c.51735A>G (p.Gly17245=) c.33498A>G (p.Gly11166=) c.23352A>G (p.Gly7784=) | dbSNP |
| 2 | g.178591122T>G | CA430266502 | TTN,TTN-AS1 | c.52899A>C (p.Gly17633=) c.33984A>C (p.Gly11328=) c.33783A>C (p.Gly11261=) c.33408A>C (p.Gly11136=) c.60603A>C (p.Gly20201=) c.55680A>C (p.Gly18560=) n.597-6474T>G n.3189-17T>G c.59700A>C (p.Gly19900=) c.33594A>C (p.Gly11198=) c.33453A>C (p.Gly11151=) c.59496A>C (p.Gly19832=) c.54894A>C (p.Gly18298=) c.54891A>C (p.Gly18297=) c.51933A>C (p.Gly17311=) c.33549A>C (p.Gly11183=) c.55044A>C (p.Gly18348=) c.55041A>C (p.Gly18347=) c.54474A>C (p.Gly18158=) c.51816A>C (p.Gly17272=) c.51735A>C (p.Gly17245=) c.33498A>C (p.Gly11166=) c.23352A>C (p.Gly7784=) | |
| 2 | g.178591123C>A | CA349483623 | TTN,TTN-AS1 | c.52898G>T (p.Gly17633Val) c.33983G>T (p.Gly11328Val) c.33782G>T (p.Gly11261Val) c.33407G>T (p.Gly11136Val) c.60602G>T (p.Gly20201Val) c.55679G>T (p.Gly18560Val) n.597-6473C>A n.3189-16C>A c.59699G>T (p.Gly19900Val) c.33593G>T (p.Gly11198Val) c.33452G>T (p.Gly11151Val) c.59495G>T (p.Gly19832Val) c.54893G>T (p.Gly18298Val) c.54890G>T (p.Gly18297Val) c.51932G>T (p.Gly17311Val) c.33548G>T (p.Gly11183Val) c.55043G>T (p.Gly18348Val) c.55040G>T (p.Gly18347Val) c.54473G>T (p.Gly18158Val) c.51815G>T (p.Gly17272Val) c.51734G>T (p.Gly17245Val) c.33497G>T (p.Gly11166Val) c.23351G>T (p.Gly7784Val) | |
| 2 | g.178591123C>G | CA349483624 | TTN,TTN-AS1 | c.52898G>C (p.Gly17633Ala) c.33983G>C (p.Gly11328Ala) c.33782G>C (p.Gly11261Ala) c.33407G>C (p.Gly11136Ala) c.60602G>C (p.Gly20201Ala) c.55679G>C (p.Gly18560Ala) n.597-6473C>G n.3189-16C>G c.59699G>C (p.Gly19900Ala) c.33593G>C (p.Gly11198Ala) c.33452G>C (p.Gly11151Ala) c.59495G>C (p.Gly19832Ala) c.54893G>C (p.Gly18298Ala) c.54890G>C (p.Gly18297Ala) c.51932G>C (p.Gly17311Ala) c.33548G>C (p.Gly11183Ala) c.55043G>C (p.Gly18348Ala) c.55040G>C (p.Gly18347Ala) c.54473G>C (p.Gly18158Ala) c.51815G>C (p.Gly17272Ala) c.51734G>C (p.Gly17245Ala) c.33497G>C (p.Gly11166Ala) c.23351G>C (p.Gly7784Ala) | |
| 2 | g.178591123C>T | CA349483625 | TTN,TTN-AS1 | c.52898G>A (p.Gly17633Glu) c.33983G>A (p.Gly11328Glu) c.33782G>A (p.Gly11261Glu) c.33407G>A (p.Gly11136Glu) c.60602G>A (p.Gly20201Glu) c.55679G>A (p.Gly18560Glu) n.597-6473C>T n.3189-16C>T c.59699G>A (p.Gly19900Glu) c.33593G>A (p.Gly11198Glu) c.33452G>A (p.Gly11151Glu) c.59495G>A (p.Gly19832Glu) c.54893G>A (p.Gly18298Glu) c.54890G>A (p.Gly18297Glu) c.51932G>A (p.Gly17311Glu) c.33548G>A (p.Gly11183Glu) c.55043G>A (p.Gly18348Glu) c.55040G>A (p.Gly18347Glu) c.54473G>A (p.Gly18158Glu) c.51815G>A (p.Gly17272Glu) c.51734G>A (p.Gly17245Glu) c.33497G>A (p.Gly11166Glu) c.23351G>A (p.Gly7784Glu) | |
| 2 | g.178591124C>A | CA349483626 | TTN,TTN-AS1 | c.52897G>T (p.Gly17633Ter) c.33982G>T (p.Gly11328Ter) c.33781G>T (p.Gly11261Ter) c.33406G>T (p.Gly11136Ter) c.60601G>T (p.Gly20201Ter) c.55678G>T (p.Gly18560Ter) n.597-6472C>A n.3189-15C>A c.59698G>T (p.Gly19900Ter) c.33592G>T (p.Gly11198Ter) c.33451G>T (p.Gly11151Ter) c.59494G>T (p.Gly19832Ter) c.54892G>T (p.Gly18298Ter) c.54889G>T (p.Gly18297Ter) c.51931G>T (p.Gly17311Ter) c.33547G>T (p.Gly11183Ter) c.55042G>T (p.Gly18348Ter) c.55039G>T (p.Gly18347Ter) c.54472G>T (p.Gly18158Ter) c.51814G>T (p.Gly17272Ter) c.51733G>T (p.Gly17245Ter) c.33496G>T (p.Gly11166Ter) c.23350G>T (p.Gly7784Ter) | |
| 2 | g.178591124C>G | CA349483627 | TTN,TTN-AS1 | c.52897G>C (p.Gly17633Arg) c.33982G>C (p.Gly11328Arg) c.33781G>C (p.Gly11261Arg) c.33406G>C (p.Gly11136Arg) c.60601G>C (p.Gly20201Arg) c.55678G>C (p.Gly18560Arg) n.597-6472C>G n.3189-15C>G c.59698G>C (p.Gly19900Arg) c.33592G>C (p.Gly11198Arg) c.33451G>C (p.Gly11151Arg) c.59494G>C (p.Gly19832Arg) c.54892G>C (p.Gly18298Arg) c.54889G>C (p.Gly18297Arg) c.51931G>C (p.Gly17311Arg) c.33547G>C (p.Gly11183Arg) c.55042G>C (p.Gly18348Arg) c.55039G>C (p.Gly18347Arg) c.54472G>C (p.Gly18158Arg) c.51814G>C (p.Gly17272Arg) c.51733G>C (p.Gly17245Arg) c.33496G>C (p.Gly11166Arg) c.23350G>C (p.Gly7784Arg) | |
| 2 | g.178591124C>T | CA349483630 | TTN,TTN-AS1 | c.52897G>A (p.Gly17633Arg) c.33982G>A (p.Gly11328Arg) c.33781G>A (p.Gly11261Arg) c.33406G>A (p.Gly11136Arg) c.60601G>A (p.Gly20201Arg) c.55678G>A (p.Gly18560Arg) n.597-6472C>T n.3189-15C>T c.59698G>A (p.Gly19900Arg) c.33592G>A (p.Gly11198Arg) c.33451G>A (p.Gly11151Arg) c.59494G>A (p.Gly19832Arg) c.54892G>A (p.Gly18298Arg) c.54889G>A (p.Gly18297Arg) c.51931G>A (p.Gly17311Arg) c.33547G>A (p.Gly11183Arg) c.55042G>A (p.Gly18348Arg) c.55039G>A (p.Gly18347Arg) c.54472G>A (p.Gly18158Arg) c.51814G>A (p.Gly17272Arg) c.51733G>A (p.Gly17245Arg) c.33496G>A (p.Gly11166Arg) c.23350G>A (p.Gly7784Arg) | |
| 2 | g.178591125T>A | CA430266503 | TTN,TTN-AS1 | c.52896A>T (p.Gly17632=) c.33981A>T (p.Gly11327=) c.33780A>T (p.Gly11260=) c.33405A>T (p.Gly11135=) c.60600A>T (p.Gly20200=) c.55677A>T (p.Gly18559=) n.597-6471T>A n.3189-14T>A c.59697A>T (p.Gly19899=) c.33591A>T (p.Gly11197=) c.33450A>T (p.Gly11150=) c.59493A>T (p.Gly19831=) c.54891A>T (p.Gly18297=) c.54888A>T (p.Gly18296=) c.51930A>T (p.Gly17310=) c.33546A>T (p.Gly11182=) c.55041A>T (p.Gly18347=) c.55038A>T (p.Gly18346=) c.54471A>T (p.Gly18157=) c.51813A>T (p.Gly17271=) c.51732A>T (p.Gly17244=) c.33495A>T (p.Gly11165=) c.23349A>T (p.Gly7783=) | |
| 2 | g.178591125T>C | CA430266504 | TTN,TTN-AS1 | c.52896A>G (p.Gly17632=) c.33981A>G (p.Gly11327=) c.33780A>G (p.Gly11260=) c.33405A>G (p.Gly11135=) c.60600A>G (p.Gly20200=) c.55677A>G (p.Gly18559=) n.597-6471T>C n.3189-14T>C c.59697A>G (p.Gly19899=) c.33591A>G (p.Gly11197=) c.33450A>G (p.Gly11150=) c.59493A>G (p.Gly19831=) c.54891A>G (p.Gly18297=) c.54888A>G (p.Gly18296=) c.51930A>G (p.Gly17310=) c.33546A>G (p.Gly11182=) c.55041A>G (p.Gly18347=) c.55038A>G (p.Gly18346=) c.54471A>G (p.Gly18157=) c.51813A>G (p.Gly17271=) c.51732A>G (p.Gly17244=) c.33495A>G (p.Gly11165=) c.23349A>G (p.Gly7783=) | |
| 2 | g.178591125T>G | CA430266505 | TTN,TTN-AS1 | c.52896A>C (p.Gly17632=) c.33981A>C (p.Gly11327=) c.33780A>C (p.Gly11260=) c.33405A>C (p.Gly11135=) c.60600A>C (p.Gly20200=) c.55677A>C (p.Gly18559=) n.597-6471T>G n.3189-14T>G c.59697A>C (p.Gly19899=) c.33591A>C (p.Gly11197=) c.33450A>C (p.Gly11150=) c.59493A>C (p.Gly19831=) c.54891A>C (p.Gly18297=) c.54888A>C (p.Gly18296=) c.51930A>C (p.Gly17310=) c.33546A>C (p.Gly11182=) c.55041A>C (p.Gly18347=) c.55038A>C (p.Gly18346=) c.54471A>C (p.Gly18157=) c.51813A>C (p.Gly17271=) c.51732A>C (p.Gly17244=) c.33495A>C (p.Gly11165=) c.23349A>C (p.Gly7783=) | |
| 2 | g.178591126C>A | CA349483638 | TTN,TTN-AS1 | c.52895G>T (p.Gly17632Val) c.33980G>T (p.Gly11327Val) c.33779G>T (p.Gly11260Val) c.33404G>T (p.Gly11135Val) c.60599G>T (p.Gly20200Val) c.55676G>T (p.Gly18559Val) n.597-6470C>A n.3189-13C>A c.59696G>T (p.Gly19899Val) c.33590G>T (p.Gly11197Val) c.33449G>T (p.Gly11150Val) c.59492G>T (p.Gly19831Val) c.54890G>T (p.Gly18297Val) c.54887G>T (p.Gly18296Val) c.51929G>T (p.Gly17310Val) c.33545G>T (p.Gly11182Val) c.55040G>T (p.Gly18347Val) c.55037G>T (p.Gly18346Val) c.54470G>T (p.Gly18157Val) c.51812G>T (p.Gly17271Val) c.51731G>T (p.Gly17244Val) c.33494G>T (p.Gly11165Val) c.23348G>T (p.Gly7783Val) | |
| 2 | g.178591126C>G | CA349483633 | TTN,TTN-AS1 | c.52895G>C (p.Gly17632Ala) c.33980G>C (p.Gly11327Ala) c.33779G>C (p.Gly11260Ala) c.33404G>C (p.Gly11135Ala) c.60599G>C (p.Gly20200Ala) c.55676G>C (p.Gly18559Ala) n.597-6470C>G n.3189-13C>G c.59696G>C (p.Gly19899Ala) c.33590G>C (p.Gly11197Ala) c.33449G>C (p.Gly11150Ala) c.59492G>C (p.Gly19831Ala) c.54890G>C (p.Gly18297Ala) c.54887G>C (p.Gly18296Ala) c.51929G>C (p.Gly17310Ala) c.33545G>C (p.Gly11182Ala) c.55040G>C (p.Gly18347Ala) c.55037G>C (p.Gly18346Ala) c.54470G>C (p.Gly18157Ala) c.51812G>C (p.Gly17271Ala) c.51731G>C (p.Gly17244Ala) c.33494G>C (p.Gly11165Ala) c.23348G>C (p.Gly7783Ala) | |
| 2 | g.178591126C>T | CA349483636 | TTN,TTN-AS1 | c.52895G>A (p.Gly17632Glu) c.33980G>A (p.Gly11327Glu) c.33779G>A (p.Gly11260Glu) c.33404G>A (p.Gly11135Glu) c.60599G>A (p.Gly20200Glu) c.55676G>A (p.Gly18559Glu) n.597-6470C>T n.3189-13C>T c.59696G>A (p.Gly19899Glu) c.33590G>A (p.Gly11197Glu) c.33449G>A (p.Gly11150Glu) c.59492G>A (p.Gly19831Glu) c.54890G>A (p.Gly18297Glu) c.54887G>A (p.Gly18296Glu) c.51929G>A (p.Gly17310Glu) c.33545G>A (p.Gly11182Glu) c.55040G>A (p.Gly18347Glu) c.55037G>A (p.Gly18346Glu) c.54470G>A (p.Gly18157Glu) c.51812G>A (p.Gly17271Glu) c.51731G>A (p.Gly17244Glu) c.33494G>A (p.Gly11165Glu) c.23348G>A (p.Gly7783Glu) | |
| 2 | g.178591127C>A | CA349483640 | TTN,TTN-AS1 | c.52894G>T (p.Gly17632Ter) c.33979G>T (p.Gly11327Ter) c.33778G>T (p.Gly11260Ter) c.33403G>T (p.Gly11135Ter) c.60598G>T (p.Gly20200Ter) c.55675G>T (p.Gly18559Ter) n.597-6469C>A n.3189-12C>A c.59695G>T (p.Gly19899Ter) c.33589G>T (p.Gly11197Ter) c.33448G>T (p.Gly11150Ter) c.59491G>T (p.Gly19831Ter) c.54889G>T (p.Gly18297Ter) c.54886G>T (p.Gly18296Ter) c.51928G>T (p.Gly17310Ter) c.33544G>T (p.Gly11182Ter) c.55039G>T (p.Gly18347Ter) c.55036G>T (p.Gly18346Ter) c.54469G>T (p.Gly18157Ter) c.51811G>T (p.Gly17271Ter) c.51730G>T (p.Gly17244Ter) c.33493G>T (p.Gly11165Ter) c.23347G>T (p.Gly7783Ter) | |
| 2 | g.178591127C>G | CA349483641 | TTN,TTN-AS1 | c.52894G>C (p.Gly17632Arg) c.33979G>C (p.Gly11327Arg) c.33778G>C (p.Gly11260Arg) c.33403G>C (p.Gly11135Arg) c.60598G>C (p.Gly20200Arg) c.55675G>C (p.Gly18559Arg) n.597-6469C>G n.3189-12C>G c.59695G>C (p.Gly19899Arg) c.33589G>C (p.Gly11197Arg) c.33448G>C (p.Gly11150Arg) c.59491G>C (p.Gly19831Arg) c.54889G>C (p.Gly18297Arg) c.54886G>C (p.Gly18296Arg) c.51928G>C (p.Gly17310Arg) c.33544G>C (p.Gly11182Arg) c.55039G>C (p.Gly18347Arg) c.55036G>C (p.Gly18346Arg) c.54469G>C (p.Gly18157Arg) c.51811G>C (p.Gly17271Arg) c.51730G>C (p.Gly17244Arg) c.33493G>C (p.Gly11165Arg) c.23347G>C (p.Gly7783Arg) | |
| 2 | g.178591127C>T | CA349483644 | TTN,TTN-AS1 | c.52894G>A (p.Gly17632Arg) c.33979G>A (p.Gly11327Arg) c.33778G>A (p.Gly11260Arg) c.33403G>A (p.Gly11135Arg) c.60598G>A (p.Gly20200Arg) c.55675G>A (p.Gly18559Arg) n.597-6469C>T n.3189-12C>T c.59695G>A (p.Gly19899Arg) c.33589G>A (p.Gly11197Arg) c.33448G>A (p.Gly11150Arg) c.59491G>A (p.Gly19831Arg) c.54889G>A (p.Gly18297Arg) c.54886G>A (p.Gly18296Arg) c.51928G>A (p.Gly17310Arg) c.33544G>A (p.Gly11182Arg) c.55039G>A (p.Gly18347Arg) c.55036G>A (p.Gly18346Arg) c.54469G>A (p.Gly18157Arg) c.51811G>A (p.Gly17271Arg) c.51730G>A (p.Gly17244Arg) c.33493G>A (p.Gly11165Arg) c.23347G>A (p.Gly7783Arg) | COSMIC COSMIC COSMIC COSMIC |
| 2 | g.178591128A>C | CA349483647 | TTN,TTN-AS1 | c.52893T>G (p.Asp17631Glu) c.33978T>G (p.Asp11326Glu) c.33777T>G (p.Asp11259Glu) c.33402T>G (p.Asp11134Glu) c.60597T>G (p.Asp20199Glu) c.55674T>G (p.Asp18558Glu) n.597-6468A>C n.3189-11A>C c.59694T>G (p.Asp19898Glu) c.33588T>G (p.Asp11196Glu) c.33447T>G (p.Asp11149Glu) c.59490T>G (p.Asp19830Glu) c.54888T>G (p.Asp18296Glu) c.54885T>G (p.Asp18295Glu) c.51927T>G (p.Asp17309Glu) c.33543T>G (p.Asp11181Glu) c.55038T>G (p.Asp18346Glu) c.55035T>G (p.Asp18345Glu) c.54468T>G (p.Asp18156Glu) c.51810T>G (p.Asp17270Glu) c.51729T>G (p.Asp17243Glu) c.33492T>G (p.Asp11164Glu) c.23346T>G (p.Asp7782Glu) | |
| 2 | g.178591128A>G | CA430266509 | TTN,TTN-AS1 | c.52893T>C (p.Asp17631=) c.33978T>C (p.Asp11326=) c.33777T>C (p.Asp11259=) c.33402T>C (p.Asp11134=) c.60597T>C (p.Asp20199=) c.55674T>C (p.Asp18558=) n.597-6468A>G n.3189-11A>G c.59694T>C (p.Asp19898=) c.33588T>C (p.Asp11196=) c.33447T>C (p.Asp11149=) c.59490T>C (p.Asp19830=) c.54888T>C (p.Asp18296=) c.54885T>C (p.Asp18295=) c.51927T>C (p.Asp17309=) c.33543T>C (p.Asp11181=) c.55038T>C (p.Asp18346=) c.55035T>C (p.Asp18345=) c.54468T>C (p.Asp18156=) c.51810T>C (p.Asp17270=) c.51729T>C (p.Asp17243=) c.33492T>C (p.Asp11164=) c.23346T>C (p.Asp7782=) | |
| 2 | g.178591128A>T | CA349483649 | TTN,TTN-AS1 | c.52893T>A (p.Asp17631Glu) c.33978T>A (p.Asp11326Glu) c.33777T>A (p.Asp11259Glu) c.33402T>A (p.Asp11134Glu) c.60597T>A (p.Asp20199Glu) c.55674T>A (p.Asp18558Glu) n.597-6468A>T n.3189-11A>T c.59694T>A (p.Asp19898Glu) c.33588T>A (p.Asp11196Glu) c.33447T>A (p.Asp11149Glu) c.59490T>A (p.Asp19830Glu) c.54888T>A (p.Asp18296Glu) c.54885T>A (p.Asp18295Glu) c.51927T>A (p.Asp17309Glu) c.33543T>A (p.Asp11181Glu) c.55038T>A (p.Asp18346Glu) c.55035T>A (p.Asp18345Glu) c.54468T>A (p.Asp18156Glu) c.51810T>A (p.Asp17270Glu) c.51729T>A (p.Asp17243Glu) c.33492T>A (p.Asp11164Glu) c.23346T>A (p.Asp7782Glu) | |
| 2 | g.178591129T>A | CA349483651 | TTN,TTN-AS1 | c.52892A>T (p.Asp17631Val) c.33977A>T (p.Asp11326Val) c.33776A>T (p.Asp11259Val) c.33401A>T (p.Asp11134Val) c.60596A>T (p.Asp20199Val) c.55673A>T (p.Asp18558Val) n.597-6467T>A n.3189-10T>A c.59693A>T (p.Asp19898Val) c.33587A>T (p.Asp11196Val) c.33446A>T (p.Asp11149Val) c.59489A>T (p.Asp19830Val) c.54887A>T (p.Asp18296Val) c.54884A>T (p.Asp18295Val) c.51926A>T (p.Asp17309Val) c.33542A>T (p.Asp11181Val) c.55037A>T (p.Asp18346Val) c.55034A>T (p.Asp18345Val) c.54467A>T (p.Asp18156Val) c.51809A>T (p.Asp17270Val) c.51728A>T (p.Asp17243Val) c.33491A>T (p.Asp11164Val) c.23345A>T (p.Asp7782Val) | |
| 2 | g.178591129T>C | CA349483652 | TTN,TTN-AS1 | c.52892A>G (p.Asp17631Gly) c.33977A>G (p.Asp11326Gly) c.33776A>G (p.Asp11259Gly) c.33401A>G (p.Asp11134Gly) c.60596A>G (p.Asp20199Gly) c.55673A>G (p.Asp18558Gly) n.597-6467T>C n.3189-10T>C c.59693A>G (p.Asp19898Gly) c.33587A>G (p.Asp11196Gly) c.33446A>G (p.Asp11149Gly) c.59489A>G (p.Asp19830Gly) c.54887A>G (p.Asp18296Gly) c.54884A>G (p.Asp18295Gly) c.51926A>G (p.Asp17309Gly) c.33542A>G (p.Asp11181Gly) c.55037A>G (p.Asp18346Gly) c.55034A>G (p.Asp18345Gly) c.54467A>G (p.Asp18156Gly) c.51809A>G (p.Asp17270Gly) c.51728A>G (p.Asp17243Gly) c.33491A>G (p.Asp11164Gly) c.23345A>G (p.Asp7782Gly) | |
| 2 | g.178591129T>G | CA349483654 | TTN,TTN-AS1 | c.52892A>C (p.Asp17631Ala) c.33977A>C (p.Asp11326Ala) c.33776A>C (p.Asp11259Ala) c.33401A>C (p.Asp11134Ala) c.60596A>C (p.Asp20199Ala) c.55673A>C (p.Asp18558Ala) n.597-6467T>G n.3189-10T>G c.59693A>C (p.Asp19898Ala) c.33587A>C (p.Asp11196Ala) c.33446A>C (p.Asp11149Ala) c.59489A>C (p.Asp19830Ala) c.54887A>C (p.Asp18296Ala) c.54884A>C (p.Asp18295Ala) c.51926A>C (p.Asp17309Ala) c.33542A>C (p.Asp11181Ala) c.55037A>C (p.Asp18346Ala) c.55034A>C (p.Asp18345Ala) c.54467A>C (p.Asp18156Ala) c.51809A>C (p.Asp17270Ala) c.51728A>C (p.Asp17243Ala) c.33491A>C (p.Asp11164Ala) c.23345A>C (p.Asp7782Ala) | |
| 2 | g.178591130C>A | CA349483657 | TTN,TTN-AS1 | c.52891G>T (p.Asp17631Tyr) c.33976G>T (p.Asp11326Tyr) c.33775G>T (p.Asp11259Tyr) c.33400G>T (p.Asp11134Tyr) c.60595G>T (p.Asp20199Tyr) c.55672G>T (p.Asp18558Tyr) n.597-6466C>A n.3189-9C>A c.59692G>T (p.Asp19898Tyr) c.33586G>T (p.Asp11196Tyr) c.33445G>T (p.Asp11149Tyr) c.59488G>T (p.Asp19830Tyr) c.54886G>T (p.Asp18296Tyr) c.54883G>T (p.Asp18295Tyr) c.51925G>T (p.Asp17309Tyr) c.33541G>T (p.Asp11181Tyr) c.55036G>T (p.Asp18346Tyr) c.55033G>T (p.Asp18345Tyr) c.54466G>T (p.Asp18156Tyr) c.51808G>T (p.Asp17270Tyr) c.51727G>T (p.Asp17243Tyr) c.33490G>T (p.Asp11164Tyr) c.23344G>T (p.Asp7782Tyr) | |
| 2 | g.178591130C>G | CA349483660 | TTN,TTN-AS1 | c.52891G>C (p.Asp17631His) c.33976G>C (p.Asp11326His) c.33775G>C (p.Asp11259His) c.33400G>C (p.Asp11134His) c.60595G>C (p.Asp20199His) c.55672G>C (p.Asp18558His) n.597-6466C>G n.3189-9C>G c.59692G>C (p.Asp19898His) c.33586G>C (p.Asp11196His) c.33445G>C (p.Asp11149His) c.59488G>C (p.Asp19830His) c.54886G>C (p.Asp18296His) c.54883G>C (p.Asp18295His) c.51925G>C (p.Asp17309His) c.33541G>C (p.Asp11181His) c.55036G>C (p.Asp18346His) c.55033G>C (p.Asp18345His) c.54466G>C (p.Asp18156His) c.51808G>C (p.Asp17270His) c.51727G>C (p.Asp17243His) c.33490G>C (p.Asp11164His) c.23344G>C (p.Asp7782His) | |
| 2 | g.178591130C>T | CA349483662 | TTN,TTN-AS1 | c.52891G>A (p.Asp17631Asn) c.33976G>A (p.Asp11326Asn) c.33775G>A (p.Asp11259Asn) c.33400G>A (p.Asp11134Asn) c.60595G>A (p.Asp20199Asn) c.55672G>A (p.Asp18558Asn) n.597-6466C>T n.3189-9C>T c.59692G>A (p.Asp19898Asn) c.33586G>A (p.Asp11196Asn) c.33445G>A (p.Asp11149Asn) c.59488G>A (p.Asp19830Asn) c.54886G>A (p.Asp18296Asn) c.54883G>A (p.Asp18295Asn) c.51925G>A (p.Asp17309Asn) c.33541G>A (p.Asp11181Asn) c.55036G>A (p.Asp18346Asn) c.55033G>A (p.Asp18345Asn) c.54466G>A (p.Asp18156Asn) c.51808G>A (p.Asp17270Asn) c.51727G>A (p.Asp17243Asn) c.33490G>A (p.Asp11164Asn) c.23344G>A (p.Asp7782Asn) | |
| 2 | g.178591131A>C | CA349483667 | TTN,TTN-AS1 | c.52890T>G (p.Asp17630Glu) c.33975T>G (p.Asp11325Glu) c.33774T>G (p.Asp11258Glu) c.33399T>G (p.Asp11133Glu) c.60594T>G (p.Asp20198Glu) c.55671T>G (p.Asp18557Glu) n.597-6465A>C n.3189-8A>C c.59691T>G (p.Asp19897Glu) c.33585T>G (p.Asp11195Glu) c.33444T>G (p.Asp11148Glu) c.59487T>G (p.Asp19829Glu) c.54885T>G (p.Asp18295Glu) c.54882T>G (p.Asp18294Glu) c.51924T>G (p.Asp17308Glu) c.33540T>G (p.Asp11180Glu) c.55035T>G (p.Asp18345Glu) c.55032T>G (p.Asp18344Glu) c.54465T>G (p.Asp18155Glu) c.51807T>G (p.Asp17269Glu) c.51726T>G (p.Asp17242Glu) c.33489T>G (p.Asp11163Glu) c.23343T>G (p.Asp7781Glu) | |
| 2 | g.178591131A>G | CA430266511 | TTN,TTN-AS1 | c.52890T>C (p.Asp17630=) c.33975T>C (p.Asp11325=) c.33774T>C (p.Asp11258=) c.33399T>C (p.Asp11133=) c.60594T>C (p.Asp20198=) c.55671T>C (p.Asp18557=) n.597-6465A>G n.3189-8A>G c.59691T>C (p.Asp19897=) c.33585T>C (p.Asp11195=) c.33444T>C (p.Asp11148=) c.59487T>C (p.Asp19829=) c.54885T>C (p.Asp18295=) c.54882T>C (p.Asp18294=) c.51924T>C (p.Asp17308=) c.33540T>C (p.Asp11180=) c.55035T>C (p.Asp18345=) c.55032T>C (p.Asp18344=) c.54465T>C (p.Asp18155=) c.51807T>C (p.Asp17269=) c.51726T>C (p.Asp17242=) c.33489T>C (p.Asp11163=) c.23343T>C (p.Asp7781=) | |
| 2 | g.178591131A>T | CA349483664 | TTN,TTN-AS1 | c.52890T>A (p.Asp17630Glu) c.33975T>A (p.Asp11325Glu) c.33774T>A (p.Asp11258Glu) c.33399T>A (p.Asp11133Glu) c.60594T>A (p.Asp20198Glu) c.55671T>A (p.Asp18557Glu) n.597-6465A>T n.3189-8A>T c.59691T>A (p.Asp19897Glu) c.33585T>A (p.Asp11195Glu) c.33444T>A (p.Asp11148Glu) c.59487T>A (p.Asp19829Glu) c.54885T>A (p.Asp18295Glu) c.54882T>A (p.Asp18294Glu) c.51924T>A (p.Asp17308Glu) c.33540T>A (p.Asp11180Glu) c.55035T>A (p.Asp18345Glu) c.55032T>A (p.Asp18344Glu) c.54465T>A (p.Asp18155Glu) c.51807T>A (p.Asp17269Glu) c.51726T>A (p.Asp17242Glu) c.33489T>A (p.Asp11163Glu) c.23343T>A (p.Asp7781Glu) | |
| 2 | g.178591132T>A | CA349483672 | TTN,TTN-AS1 | c.52889A>T (p.Asp17630Val) c.33974A>T (p.Asp11325Val) c.33773A>T (p.Asp11258Val) c.33398A>T (p.Asp11133Val) c.60593A>T (p.Asp20198Val) c.55670A>T (p.Asp18557Val) n.597-6464T>A n.3189-7T>A c.59690A>T (p.Asp19897Val) c.33584A>T (p.Asp11195Val) c.33443A>T (p.Asp11148Val) c.59486A>T (p.Asp19829Val) c.54884A>T (p.Asp18295Val) c.54881A>T (p.Asp18294Val) c.51923A>T (p.Asp17308Val) c.33539A>T (p.Asp11180Val) c.55034A>T (p.Asp18345Val) c.55031A>T (p.Asp18344Val) c.54464A>T (p.Asp18155Val) c.51806A>T (p.Asp17269Val) c.51725A>T (p.Asp17242Val) c.33488A>T (p.Asp11163Val) c.23342A>T (p.Asp7781Val) | dbSNP |
| 2 | g.178591132T>C | CA349483676 | TTN,TTN-AS1 | c.52889A>G (p.Asp17630Gly) c.33974A>G (p.Asp11325Gly) c.33773A>G (p.Asp11258Gly) c.33398A>G (p.Asp11133Gly) c.60593A>G (p.Asp20198Gly) c.55670A>G (p.Asp18557Gly) n.597-6464T>C n.3189-7T>C c.59690A>G (p.Asp19897Gly) c.33584A>G (p.Asp11195Gly) c.33443A>G (p.Asp11148Gly) c.59486A>G (p.Asp19829Gly) c.54884A>G (p.Asp18295Gly) c.54881A>G (p.Asp18294Gly) c.51923A>G (p.Asp17308Gly) c.33539A>G (p.Asp11180Gly) c.55034A>G (p.Asp18345Gly) c.55031A>G (p.Asp18344Gly) c.54464A>G (p.Asp18155Gly) c.51806A>G (p.Asp17269Gly) c.51725A>G (p.Asp17242Gly) c.33488A>G (p.Asp11163Gly) c.23342A>G (p.Asp7781Gly) | dbSNP |