| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.178584668C>A | CA16042421 | TTN,TTN-AS1 | c.57268+1G>T (n.57268+1G>T) c.38353+1G>T (n.38353+1G>T) c.38152+1G>T (n.38152+1G>T) c.37777+1G>T (n.37777+1G>T) c.64972+1G>T (n.64972+1G>T) c.60049+1G>T (n.60049+1G>T) n.597-12928C>A n.2863C>A c.64069+1G>T (n.64069+1G>T) c.37963+1G>T (n.37963+1G>T) c.37822+1G>T (n.37822+1G>T) c.63865+1G>T (n.63865+1G>T) c.59263+1G>T (n.59263+1G>T) c.59260+1G>T (n.59260+1G>T) c.56302+1G>T (n.56302+1G>T) c.37918+1G>T (n.37918+1G>T) c.59413+1G>T (n.59413+1G>T) c.59410+1G>T (n.59410+1G>T) c.58843+1G>T (n.58843+1G>T) c.56185+1G>T (n.56185+1G>T) c.56104+1G>T (n.56104+1G>T) c.37867+1G>T (n.37867+1G>T) c.27721+1G>T (n.27721+1G>T) | ClinVar dbSNP |
| 2 | g.178584668C= | CA1310537118 | TTN,TTN-AS1 | c.57268+1G= (n.57268+1G=) c.38353+1G= (n.38353+1G=) c.38152+1G= (n.38152+1G=) c.37777+1G= (n.37777+1G=) c.64972+1G= (n.64972+1G=) c.60049+1G= (n.60049+1G=) n.597-12928C= n.2863C= c.64069+1G= (n.64069+1G=) c.37963+1G= (n.37963+1G=) c.37822+1G= (n.37822+1G=) c.63865+1G= (n.63865+1G=) c.59263+1G= (n.59263+1G=) c.59260+1G= (n.59260+1G=) c.56302+1G= (n.56302+1G=) c.37918+1G= (n.37918+1G=) c.59413+1G= (n.59413+1G=) c.59410+1G= (n.59410+1G=) c.58843+1G= (n.58843+1G=) c.56185+1G= (n.56185+1G=) c.56104+1G= (n.56104+1G=) c.37867+1G= (n.37867+1G=) c.27721+1G= (n.27721+1G=) | |
| 2 | g.178584668C>G | CA349436032 | TTN,TTN-AS1 | c.57268+1G>C (n.57268+1G>C) c.38353+1G>C (n.38353+1G>C) c.38152+1G>C (n.38152+1G>C) c.37777+1G>C (n.37777+1G>C) c.64972+1G>C (n.64972+1G>C) c.60049+1G>C (n.60049+1G>C) n.597-12928C>G n.2863C>G c.64069+1G>C (n.64069+1G>C) c.37963+1G>C (n.37963+1G>C) c.37822+1G>C (n.37822+1G>C) c.63865+1G>C (n.63865+1G>C) c.59263+1G>C (n.59263+1G>C) c.59260+1G>C (n.59260+1G>C) c.56302+1G>C (n.56302+1G>C) c.37918+1G>C (n.37918+1G>C) c.59413+1G>C (n.59413+1G>C) c.59410+1G>C (n.59410+1G>C) c.58843+1G>C (n.58843+1G>C) c.56185+1G>C (n.56185+1G>C) c.56104+1G>C (n.56104+1G>C) c.37867+1G>C (n.37867+1G>C) c.27721+1G>C (n.27721+1G>C) | |
| 2 | g.178584668C>T | CA349436034 | TTN,TTN-AS1 | c.57268+1G>A (n.57268+1G>A) c.38353+1G>A (n.38353+1G>A) c.38152+1G>A (n.38152+1G>A) c.37777+1G>A (n.37777+1G>A) c.64972+1G>A (n.64972+1G>A) c.60049+1G>A (n.60049+1G>A) n.597-12928C>T n.2863C>T c.64069+1G>A (n.64069+1G>A) c.37963+1G>A (n.37963+1G>A) c.37822+1G>A (n.37822+1G>A) c.63865+1G>A (n.63865+1G>A) c.59263+1G>A (n.59263+1G>A) c.59260+1G>A (n.59260+1G>A) c.56302+1G>A (n.56302+1G>A) c.37918+1G>A (n.37918+1G>A) c.59413+1G>A (n.59413+1G>A) c.59410+1G>A (n.59410+1G>A) c.58843+1G>A (n.58843+1G>A) c.56185+1G>A (n.56185+1G>A) c.56104+1G>A (n.56104+1G>A) c.37867+1G>A (n.37867+1G>A) c.27721+1G>A (n.27721+1G>A) | |
| 2 | g.178584669C>A | CA349436036 | TTN,TTN-AS1 | c.57268G>T (p.Gly19090Cys) c.38353G>T (p.Gly12785Cys) c.38152G>T (p.Gly12718Cys) c.37777G>T (p.Gly12593Cys) c.64972G>T (p.Gly21658Cys) c.60049G>T (p.Gly20017Cys) n.597-12927C>A n.2864C>A c.64069G>T (p.Gly21357Cys) c.37963G>T (p.Gly12655Cys) c.37822G>T (p.Gly12608Cys) c.63865G>T (p.Gly21289Cys) c.59263G>T (p.Gly19755Cys) c.59260G>T (p.Gly19754Cys) c.56302G>T (p.Gly18768Cys) c.37918G>T (p.Gly12640Cys) c.59413G>T (p.Gly19805Cys) c.59410G>T (p.Gly19804Cys) c.58843G>T (p.Gly19615Cys) c.56185G>T (p.Gly18729Cys) c.56104G>T (p.Gly18702Cys) c.37867G>T (p.Gly12623Cys) c.27721G>T (p.Gly9241Cys) | |
| 2 | g.178584669C>G | CA349436038 | TTN,TTN-AS1 | c.57268G>C (p.Gly19090Arg) c.38353G>C (p.Gly12785Arg) c.38152G>C (p.Gly12718Arg) c.37777G>C (p.Gly12593Arg) c.64972G>C (p.Gly21658Arg) c.60049G>C (p.Gly20017Arg) n.597-12927C>G n.2864C>G c.64069G>C (p.Gly21357Arg) c.37963G>C (p.Gly12655Arg) c.37822G>C (p.Gly12608Arg) c.63865G>C (p.Gly21289Arg) c.59263G>C (p.Gly19755Arg) c.59260G>C (p.Gly19754Arg) c.56302G>C (p.Gly18768Arg) c.37918G>C (p.Gly12640Arg) c.59413G>C (p.Gly19805Arg) c.59410G>C (p.Gly19804Arg) c.58843G>C (p.Gly19615Arg) c.56185G>C (p.Gly18729Arg) c.56104G>C (p.Gly18702Arg) c.37867G>C (p.Gly12623Arg) c.27721G>C (p.Gly9241Arg) | |
| 2 | g.178584669C>T | CA349436040 | TTN,TTN-AS1 | c.57268G>A (p.Gly19090Ser) c.38353G>A (p.Gly12785Ser) c.38152G>A (p.Gly12718Ser) c.37777G>A (p.Gly12593Ser) c.64972G>A (p.Gly21658Ser) c.60049G>A (p.Gly20017Ser) n.597-12927C>T n.2864C>T c.64069G>A (p.Gly21357Ser) c.37963G>A (p.Gly12655Ser) c.37822G>A (p.Gly12608Ser) c.63865G>A (p.Gly21289Ser) c.59263G>A (p.Gly19755Ser) c.59260G>A (p.Gly19754Ser) c.56302G>A (p.Gly18768Ser) c.37918G>A (p.Gly12640Ser) c.59413G>A (p.Gly19805Ser) c.59410G>A (p.Gly19804Ser) c.58843G>A (p.Gly19615Ser) c.56185G>A (p.Gly18729Ser) c.56104G>A (p.Gly18702Ser) c.37867G>A (p.Gly12623Ser) c.27721G>A (p.Gly9241Ser) | |
| 2 | g.178584670A>C | CA349436042 | TTN,TTN-AS1 | c.57267T>G (p.Phe19089Leu) c.38352T>G (p.Phe12784Leu) c.38151T>G (p.Phe12717Leu) c.37776T>G (p.Phe12592Leu) c.64971T>G (p.Phe21657Leu) c.60048T>G (p.Phe20016Leu) n.597-12926A>C n.2865A>C c.64068T>G (p.Phe21356Leu) c.37962T>G (p.Phe12654Leu) c.37821T>G (p.Phe12607Leu) c.63864T>G (p.Phe21288Leu) c.59262T>G (p.Phe19754Leu) c.59259T>G (p.Phe19753Leu) c.56301T>G (p.Phe18767Leu) c.37917T>G (p.Phe12639Leu) c.59412T>G (p.Phe19804Leu) c.59409T>G (p.Phe19803Leu) c.58842T>G (p.Phe19614Leu) c.56184T>G (p.Phe18728Leu) c.56103T>G (p.Phe18701Leu) c.37866T>G (p.Phe12622Leu) c.27720T>G (p.Phe9240Leu) | |
| 2 | g.178584670A>G | CA430264037 | TTN,TTN-AS1 | c.57267T>C (p.Phe19089=) c.38352T>C (p.Phe12784=) c.38151T>C (p.Phe12717=) c.37776T>C (p.Phe12592=) c.64971T>C (p.Phe21657=) c.60048T>C (p.Phe20016=) n.597-12926A>G n.2865A>G c.64068T>C (p.Phe21356=) c.37962T>C (p.Phe12654=) c.37821T>C (p.Phe12607=) c.63864T>C (p.Phe21288=) c.59262T>C (p.Phe19754=) c.59259T>C (p.Phe19753=) c.56301T>C (p.Phe18767=) c.37917T>C (p.Phe12639=) c.59412T>C (p.Phe19804=) c.59409T>C (p.Phe19803=) c.58842T>C (p.Phe19614=) c.56184T>C (p.Phe18728=) c.56103T>C (p.Phe18701=) c.37866T>C (p.Phe12622=) c.27720T>C (p.Phe9240=) | |
| 2 | g.178584670A>T | CA349436044 | TTN,TTN-AS1 | c.57267T>A (p.Phe19089Leu) c.38352T>A (p.Phe12784Leu) c.38151T>A (p.Phe12717Leu) c.37776T>A (p.Phe12592Leu) c.64971T>A (p.Phe21657Leu) c.60048T>A (p.Phe20016Leu) n.597-12926A>T n.2865A>T c.64068T>A (p.Phe21356Leu) c.37962T>A (p.Phe12654Leu) c.37821T>A (p.Phe12607Leu) c.63864T>A (p.Phe21288Leu) c.59262T>A (p.Phe19754Leu) c.59259T>A (p.Phe19753Leu) c.56301T>A (p.Phe18767Leu) c.37917T>A (p.Phe12639Leu) c.59412T>A (p.Phe19804Leu) c.59409T>A (p.Phe19803Leu) c.58842T>A (p.Phe19614Leu) c.56184T>A (p.Phe18728Leu) c.56103T>A (p.Phe18701Leu) c.37866T>A (p.Phe12622Leu) c.27720T>A (p.Phe9240Leu) | |
| 2 | g.178584671A= | CA1310537119 | TTN,TTN-AS1 | c.57266T= (p.Phe19089=) c.38351T= (p.Phe12784=) c.38150T= (p.Phe12717=) c.37775T= (p.Phe12592=) c.64970T= (p.Phe21657=) c.60047T= (p.Phe20016=) n.597-12925A= n.2866A= c.64067T= (p.Phe21356=) c.37961T= (p.Phe12654=) c.37820T= (p.Phe12607=) c.63863T= (p.Phe21288=) c.59261T= (p.Phe19754=) c.59258T= (p.Phe19753=) c.56300T= (p.Phe18767=) c.37916T= (p.Phe12639=) c.59411T= (p.Phe19804=) c.59408T= (p.Phe19803=) c.58841T= (p.Phe19614=) c.56183T= (p.Phe18728=) c.56102T= (p.Phe18701=) c.37865T= (p.Phe12622=) c.27719T= (p.Phe9240=) | |
| 2 | g.178584671A>C | CA349436047 | TTN,TTN-AS1 | c.57266T>G (p.Phe19089Cys) c.38351T>G (p.Phe12784Cys) c.38150T>G (p.Phe12717Cys) c.37775T>G (p.Phe12592Cys) c.64970T>G (p.Phe21657Cys) c.60047T>G (p.Phe20016Cys) n.597-12925A>C n.2866A>C c.64067T>G (p.Phe21356Cys) c.37961T>G (p.Phe12654Cys) c.37820T>G (p.Phe12607Cys) c.63863T>G (p.Phe21288Cys) c.59261T>G (p.Phe19754Cys) c.59258T>G (p.Phe19753Cys) c.56300T>G (p.Phe18767Cys) c.37916T>G (p.Phe12639Cys) c.59411T>G (p.Phe19804Cys) c.59408T>G (p.Phe19803Cys) c.58841T>G (p.Phe19614Cys) c.56183T>G (p.Phe18728Cys) c.56102T>G (p.Phe18701Cys) c.37865T>G (p.Phe12622Cys) c.27719T>G (p.Phe9240Cys) | dbSNP gnomAD v4 |
| 2 | g.178584671A>G | CA349436048 | TTN,TTN-AS1 | c.57266T>C (p.Phe19089Ser) c.38351T>C (p.Phe12784Ser) c.38150T>C (p.Phe12717Ser) c.37775T>C (p.Phe12592Ser) c.64970T>C (p.Phe21657Ser) c.60047T>C (p.Phe20016Ser) n.597-12925A>G n.2866A>G c.64067T>C (p.Phe21356Ser) c.37961T>C (p.Phe12654Ser) c.37820T>C (p.Phe12607Ser) c.63863T>C (p.Phe21288Ser) c.59261T>C (p.Phe19754Ser) c.59258T>C (p.Phe19753Ser) c.56300T>C (p.Phe18767Ser) c.37916T>C (p.Phe12639Ser) c.59411T>C (p.Phe19804Ser) c.59408T>C (p.Phe19803Ser) c.58841T>C (p.Phe19614Ser) c.56183T>C (p.Phe18728Ser) c.56102T>C (p.Phe18701Ser) c.37865T>C (p.Phe12622Ser) c.27719T>C (p.Phe9240Ser) | gnomAD v4 |
| 2 | g.178584671A>T | CA349436050 | TTN,TTN-AS1 | c.57266T>A (p.Phe19089Tyr) c.38351T>A (p.Phe12784Tyr) c.38150T>A (p.Phe12717Tyr) c.37775T>A (p.Phe12592Tyr) c.64970T>A (p.Phe21657Tyr) c.60047T>A (p.Phe20016Tyr) n.597-12925A>T n.2866A>T c.64067T>A (p.Phe21356Tyr) c.37961T>A (p.Phe12654Tyr) c.37820T>A (p.Phe12607Tyr) c.63863T>A (p.Phe21288Tyr) c.59261T>A (p.Phe19754Tyr) c.59258T>A (p.Phe19753Tyr) c.56300T>A (p.Phe18767Tyr) c.37916T>A (p.Phe12639Tyr) c.59411T>A (p.Phe19804Tyr) c.59408T>A (p.Phe19803Tyr) c.58841T>A (p.Phe19614Tyr) c.56183T>A (p.Phe18728Tyr) c.56102T>A (p.Phe18701Tyr) c.37865T>A (p.Phe12622Tyr) c.27719T>A (p.Phe9240Tyr) | |
| 2 | g.178584672A= | CA1310537120 | TTN,TTN-AS1 | c.57265T= (p.Phe19089=) c.38350T= (p.Phe12784=) c.38149T= (p.Phe12717=) c.37774T= (p.Phe12592=) c.64969T= (p.Phe21657=) c.60046T= (p.Phe20016=) n.597-12924A= n.2867A= c.64066T= (p.Phe21356=) c.37960T= (p.Phe12654=) c.37819T= (p.Phe12607=) c.63862T= (p.Phe21288=) c.59260T= (p.Phe19754=) c.59257T= (p.Phe19753=) c.56299T= (p.Phe18767=) c.37915T= (p.Phe12639=) c.59410T= (p.Phe19804=) c.59407T= (p.Phe19803=) c.58840T= (p.Phe19614=) c.56182T= (p.Phe18728=) c.56101T= (p.Phe18701=) c.37864T= (p.Phe12622=) c.27718T= (p.Phe9240=) | |
| 2 | g.178584672A>C | CA1991811 | TTN,TTN-AS1 | c.57265T>G (p.Phe19089Val) c.38350T>G (p.Phe12784Val) c.38149T>G (p.Phe12717Val) c.37774T>G (p.Phe12592Val) c.64969T>G (p.Phe21657Val) c.60046T>G (p.Phe20016Val) n.597-12924A>C n.2867A>C c.64066T>G (p.Phe21356Val) c.37960T>G (p.Phe12654Val) c.37819T>G (p.Phe12607Val) c.63862T>G (p.Phe21288Val) c.59260T>G (p.Phe19754Val) c.59257T>G (p.Phe19753Val) c.56299T>G (p.Phe18767Val) c.37915T>G (p.Phe12639Val) c.59410T>G (p.Phe19804Val) c.59407T>G (p.Phe19803Val) c.58840T>G (p.Phe19614Val) c.56182T>G (p.Phe18728Val) c.56101T>G (p.Phe18701Val) c.37864T>G (p.Phe12622Val) c.27718T>G (p.Phe9240Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.178584672A>G | CA349436053 | TTN,TTN-AS1 | c.57265T>C (p.Phe19089Leu) c.38350T>C (p.Phe12784Leu) c.38149T>C (p.Phe12717Leu) c.37774T>C (p.Phe12592Leu) c.64969T>C (p.Phe21657Leu) c.60046T>C (p.Phe20016Leu) n.597-12924A>G n.2867A>G c.64066T>C (p.Phe21356Leu) c.37960T>C (p.Phe12654Leu) c.37819T>C (p.Phe12607Leu) c.63862T>C (p.Phe21288Leu) c.59260T>C (p.Phe19754Leu) c.59257T>C (p.Phe19753Leu) c.56299T>C (p.Phe18767Leu) c.37915T>C (p.Phe12639Leu) c.59410T>C (p.Phe19804Leu) c.59407T>C (p.Phe19803Leu) c.58840T>C (p.Phe19614Leu) c.56182T>C (p.Phe18728Leu) c.56101T>C (p.Phe18701Leu) c.37864T>C (p.Phe12622Leu) c.27718T>C (p.Phe9240Leu) | |
| 2 | g.178584672A>T | CA349436055 | TTN,TTN-AS1 | c.57265T>A (p.Phe19089Ile) c.38350T>A (p.Phe12784Ile) c.38149T>A (p.Phe12717Ile) c.37774T>A (p.Phe12592Ile) c.64969T>A (p.Phe21657Ile) c.60046T>A (p.Phe20016Ile) n.597-12924A>T n.2867A>T c.64066T>A (p.Phe21356Ile) c.37960T>A (p.Phe12654Ile) c.37819T>A (p.Phe12607Ile) c.63862T>A (p.Phe21288Ile) c.59260T>A (p.Phe19754Ile) c.59257T>A (p.Phe19753Ile) c.56299T>A (p.Phe18767Ile) c.37915T>A (p.Phe12639Ile) c.59410T>A (p.Phe19804Ile) c.59407T>A (p.Phe19803Ile) c.58840T>A (p.Phe19614Ile) c.56182T>A (p.Phe18728Ile) c.56101T>A (p.Phe18701Ile) c.37864T>A (p.Phe12622Ile) c.27718T>A (p.Phe9240Ile) | |
| 2 | g.178584673T>A | CA430264044 | TTN,TTN-AS1 | c.57264A>T (p.Pro19088=) c.38349A>T (p.Pro12783=) c.38148A>T (p.Pro12716=) c.37773A>T (p.Pro12591=) c.64968A>T (p.Pro21656=) c.60045A>T (p.Pro20015=) n.597-12923T>A n.2868T>A c.64065A>T (p.Pro21355=) c.37959A>T (p.Pro12653=) c.37818A>T (p.Pro12606=) c.63861A>T (p.Pro21287=) c.59259A>T (p.Pro19753=) c.59256A>T (p.Pro19752=) c.56298A>T (p.Pro18766=) c.37914A>T (p.Pro12638=) c.59409A>T (p.Pro19803=) c.59406A>T (p.Pro19802=) c.58839A>T (p.Pro19613=) c.56181A>T (p.Pro18727=) c.56100A>T (p.Pro18700=) c.37863A>T (p.Pro12621=) c.27717A>T (p.Pro9239=) | |
| 2 | g.178584673T>C | CA1991812 | TTN,TTN-AS1 | c.57264A>G (p.Pro19088=) c.38349A>G (p.Pro12783=) c.38148A>G (p.Pro12716=) c.37773A>G (p.Pro12591=) c.64968A>G (p.Pro21656=) c.60045A>G (p.Pro20015=) n.597-12923T>C n.2868T>C c.64065A>G (p.Pro21355=) c.37959A>G (p.Pro12653=) c.37818A>G (p.Pro12606=) c.63861A>G (p.Pro21287=) c.59259A>G (p.Pro19753=) c.59256A>G (p.Pro19752=) c.56298A>G (p.Pro18766=) c.37914A>G (p.Pro12638=) c.59409A>G (p.Pro19803=) c.59406A>G (p.Pro19802=) c.58839A>G (p.Pro19613=) c.56181A>G (p.Pro18727=) c.56100A>G (p.Pro18700=) c.37863A>G (p.Pro12621=) c.27717A>G (p.Pro9239=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.178584673T>G | CA430264047 | TTN,TTN-AS1 | c.57264A>C (p.Pro19088=) c.38349A>C (p.Pro12783=) c.38148A>C (p.Pro12716=) c.37773A>C (p.Pro12591=) c.64968A>C (p.Pro21656=) c.60045A>C (p.Pro20015=) n.597-12923T>G n.2868T>G c.64065A>C (p.Pro21355=) c.37959A>C (p.Pro12653=) c.37818A>C (p.Pro12606=) c.63861A>C (p.Pro21287=) c.59259A>C (p.Pro19753=) c.59256A>C (p.Pro19752=) c.56298A>C (p.Pro18766=) c.37914A>C (p.Pro12638=) c.59409A>C (p.Pro19803=) c.59406A>C (p.Pro19802=) c.58839A>C (p.Pro19613=) c.56181A>C (p.Pro18727=) c.56100A>C (p.Pro18700=) c.37863A>C (p.Pro12621=) c.27717A>C (p.Pro9239=) | gnomAD v4 |
| 2 | g.178584673T= | CA1310537121 | TTN,TTN-AS1 | c.57264A= (p.Pro19088=) c.38349A= (p.Pro12783=) c.38148A= (p.Pro12716=) c.37773A= (p.Pro12591=) c.64968A= (p.Pro21656=) c.60045A= (p.Pro20015=) n.597-12923T= n.2868T= c.64065A= (p.Pro21355=) c.37959A= (p.Pro12653=) c.37818A= (p.Pro12606=) c.63861A= (p.Pro21287=) c.59259A= (p.Pro19753=) c.59256A= (p.Pro19752=) c.56298A= (p.Pro18766=) c.37914A= (p.Pro12638=) c.59409A= (p.Pro19803=) c.59406A= (p.Pro19802=) c.58839A= (p.Pro19613=) c.56181A= (p.Pro18727=) c.56100A= (p.Pro18700=) c.37863A= (p.Pro12621=) c.27717A= (p.Pro9239=) | |
| 2 | g.178584674G>A | CA349436060 | TTN,TTN-AS1 | c.57263C>T (p.Pro19088Leu) c.38348C>T (p.Pro12783Leu) c.38147C>T (p.Pro12716Leu) c.37772C>T (p.Pro12591Leu) c.64967C>T (p.Pro21656Leu) c.60044C>T (p.Pro20015Leu) n.597-12922G>A n.2869G>A c.64064C>T (p.Pro21355Leu) c.37958C>T (p.Pro12653Leu) c.37817C>T (p.Pro12606Leu) c.63860C>T (p.Pro21287Leu) c.59258C>T (p.Pro19753Leu) c.59255C>T (p.Pro19752Leu) c.56297C>T (p.Pro18766Leu) c.37913C>T (p.Pro12638Leu) c.59408C>T (p.Pro19803Leu) c.59405C>T (p.Pro19802Leu) c.58838C>T (p.Pro19613Leu) c.56180C>T (p.Pro18727Leu) c.56099C>T (p.Pro18700Leu) c.37862C>T (p.Pro12621Leu) c.27716C>T (p.Pro9239Leu) | |
| 2 | g.178584674G>C | CA349436059 | TTN,TTN-AS1 | c.57263C>G (p.Pro19088Arg) c.38348C>G (p.Pro12783Arg) c.38147C>G (p.Pro12716Arg) c.37772C>G (p.Pro12591Arg) c.64967C>G (p.Pro21656Arg) c.60044C>G (p.Pro20015Arg) n.597-12922G>C n.2869G>C c.64064C>G (p.Pro21355Arg) c.37958C>G (p.Pro12653Arg) c.37817C>G (p.Pro12606Arg) c.63860C>G (p.Pro21287Arg) c.59258C>G (p.Pro19753Arg) c.59255C>G (p.Pro19752Arg) c.56297C>G (p.Pro18766Arg) c.37913C>G (p.Pro12638Arg) c.59408C>G (p.Pro19803Arg) c.59405C>G (p.Pro19802Arg) c.58838C>G (p.Pro19613Arg) c.56180C>G (p.Pro18727Arg) c.56099C>G (p.Pro18700Arg) c.37862C>G (p.Pro12621Arg) c.27716C>G (p.Pro9239Arg) | |
| 2 | g.178584674G>T | CA349436062 | TTN,TTN-AS1 | c.57263C>A (p.Pro19088Gln) c.38348C>A (p.Pro12783Gln) c.38147C>A (p.Pro12716Gln) c.37772C>A (p.Pro12591Gln) c.64967C>A (p.Pro21656Gln) c.60044C>A (p.Pro20015Gln) n.597-12922G>T n.2869G>T c.64064C>A (p.Pro21355Gln) c.37958C>A (p.Pro12653Gln) c.37817C>A (p.Pro12606Gln) c.63860C>A (p.Pro21287Gln) c.59258C>A (p.Pro19753Gln) c.59255C>A (p.Pro19752Gln) c.56297C>A (p.Pro18766Gln) c.37913C>A (p.Pro12638Gln) c.59408C>A (p.Pro19803Gln) c.59405C>A (p.Pro19802Gln) c.58838C>A (p.Pro19613Gln) c.56180C>A (p.Pro18727Gln) c.56099C>A (p.Pro18700Gln) c.37862C>A (p.Pro12621Gln) c.27716C>A (p.Pro9239Gln) | |
| 2 | g.178584675G>A | CA349436063 | TTN,TTN-AS1 | c.57262C>T (p.Pro19088Ser) c.38347C>T (p.Pro12783Ser) c.38146C>T (p.Pro12716Ser) c.37771C>T (p.Pro12591Ser) c.64966C>T (p.Pro21656Ser) c.60043C>T (p.Pro20015Ser) n.597-12921G>A n.2870G>A c.64063C>T (p.Pro21355Ser) c.37957C>T (p.Pro12653Ser) c.37816C>T (p.Pro12606Ser) c.63859C>T (p.Pro21287Ser) c.59257C>T (p.Pro19753Ser) c.59254C>T (p.Pro19752Ser) c.56296C>T (p.Pro18766Ser) c.37912C>T (p.Pro12638Ser) c.59407C>T (p.Pro19803Ser) c.59404C>T (p.Pro19802Ser) c.58837C>T (p.Pro19613Ser) c.56179C>T (p.Pro18727Ser) c.56098C>T (p.Pro18700Ser) c.37861C>T (p.Pro12621Ser) c.27715C>T (p.Pro9239Ser) | |
| 2 | g.178584675G>C | CA349436065 | TTN,TTN-AS1 | c.57262C>G (p.Pro19088Ala) c.38347C>G (p.Pro12783Ala) c.38146C>G (p.Pro12716Ala) c.37771C>G (p.Pro12591Ala) c.64966C>G (p.Pro21656Ala) c.60043C>G (p.Pro20015Ala) n.597-12921G>C n.2870G>C c.64063C>G (p.Pro21355Ala) c.37957C>G (p.Pro12653Ala) c.37816C>G (p.Pro12606Ala) c.63859C>G (p.Pro21287Ala) c.59257C>G (p.Pro19753Ala) c.59254C>G (p.Pro19752Ala) c.56296C>G (p.Pro18766Ala) c.37912C>G (p.Pro12638Ala) c.59407C>G (p.Pro19803Ala) c.59404C>G (p.Pro19802Ala) c.58837C>G (p.Pro19613Ala) c.56179C>G (p.Pro18727Ala) c.56098C>G (p.Pro18700Ala) c.37861C>G (p.Pro12621Ala) c.27715C>G (p.Pro9239Ala) | |
| 2 | g.178584675G>T | CA349436064 | TTN,TTN-AS1 | c.57262C>A (p.Pro19088Thr) c.38347C>A (p.Pro12783Thr) c.38146C>A (p.Pro12716Thr) c.37771C>A (p.Pro12591Thr) c.64966C>A (p.Pro21656Thr) c.60043C>A (p.Pro20015Thr) n.597-12921G>T n.2870G>T c.64063C>A (p.Pro21355Thr) c.37957C>A (p.Pro12653Thr) c.37816C>A (p.Pro12606Thr) c.63859C>A (p.Pro21287Thr) c.59257C>A (p.Pro19753Thr) c.59254C>A (p.Pro19752Thr) c.56296C>A (p.Pro18766Thr) c.37912C>A (p.Pro12638Thr) c.59407C>A (p.Pro19803Thr) c.59404C>A (p.Pro19802Thr) c.58837C>A (p.Pro19613Thr) c.56179C>A (p.Pro18727Thr) c.56098C>A (p.Pro18700Thr) c.37861C>A (p.Pro12621Thr) c.27715C>A (p.Pro9239Thr) | |
| 2 | g.178584676G>A | CA430264052 | TTN,TTN-AS1 | c.57261C>T (p.Phe19087=) c.38346C>T (p.Phe12782=) c.38145C>T (p.Phe12715=) c.37770C>T (p.Phe12590=) c.64965C>T (p.Phe21655=) c.60042C>T (p.Phe20014=) n.597-12920G>A n.2871G>A c.64062C>T (p.Phe21354=) c.37956C>T (p.Phe12652=) c.37815C>T (p.Phe12605=) c.63858C>T (p.Phe21286=) c.59256C>T (p.Phe19752=) c.59253C>T (p.Phe19751=) c.56295C>T (p.Phe18765=) c.37911C>T (p.Phe12637=) c.59406C>T (p.Phe19802=) c.59403C>T (p.Phe19801=) c.58836C>T (p.Phe19612=) c.56178C>T (p.Phe18726=) c.56097C>T (p.Phe18699=) c.37860C>T (p.Phe12620=) c.27714C>T (p.Phe9238=) | |
| 2 | g.178584676G>C | CA10611629 | TTN,TTN-AS1 | c.57261C>G (p.Phe19087Leu) c.38346C>G (p.Phe12782Leu) c.38145C>G (p.Phe12715Leu) c.37770C>G (p.Phe12590Leu) c.64965C>G (p.Phe21655Leu) c.60042C>G (p.Phe20014Leu) n.597-12920G>C n.2871G>C c.64062C>G (p.Phe21354Leu) c.37956C>G (p.Phe12652Leu) c.37815C>G (p.Phe12605Leu) c.63858C>G (p.Phe21286Leu) c.59256C>G (p.Phe19752Leu) c.59253C>G (p.Phe19751Leu) c.56295C>G (p.Phe18765Leu) c.37911C>G (p.Phe12637Leu) c.59406C>G (p.Phe19802Leu) c.59403C>G (p.Phe19801Leu) c.58836C>G (p.Phe19612Leu) c.56178C>G (p.Phe18726Leu) c.56097C>G (p.Phe18699Leu) c.37860C>G (p.Phe12620Leu) c.27714C>G (p.Phe9238Leu) | ClinVar dbSNP |
| 2 | g.178584676G= | CA1310537122 | TTN,TTN-AS1 | c.57261C= (p.Phe19087=) c.38346C= (p.Phe12782=) c.38145C= (p.Phe12715=) c.37770C= (p.Phe12590=) c.64965C= (p.Phe21655=) c.60042C= (p.Phe20014=) n.597-12920G= n.2871G= c.64062C= (p.Phe21354=) c.37956C= (p.Phe12652=) c.37815C= (p.Phe12605=) c.63858C= (p.Phe21286=) c.59256C= (p.Phe19752=) c.59253C= (p.Phe19751=) c.56295C= (p.Phe18765=) c.37911C= (p.Phe12637=) c.59406C= (p.Phe19802=) c.59403C= (p.Phe19801=) c.58836C= (p.Phe19612=) c.56178C= (p.Phe18726=) c.56097C= (p.Phe18699=) c.37860C= (p.Phe12620=) c.27714C= (p.Phe9238=) | |
| 2 | g.178584676G>T | CA349436068 | TTN,TTN-AS1 | c.57261C>A (p.Phe19087Leu) c.38346C>A (p.Phe12782Leu) c.38145C>A (p.Phe12715Leu) c.37770C>A (p.Phe12590Leu) c.64965C>A (p.Phe21655Leu) c.60042C>A (p.Phe20014Leu) n.597-12920G>T n.2871G>T c.64062C>A (p.Phe21354Leu) c.37956C>A (p.Phe12652Leu) c.37815C>A (p.Phe12605Leu) c.63858C>A (p.Phe21286Leu) c.59256C>A (p.Phe19752Leu) c.59253C>A (p.Phe19751Leu) c.56295C>A (p.Phe18765Leu) c.37911C>A (p.Phe12637Leu) c.59406C>A (p.Phe19802Leu) c.59403C>A (p.Phe19801Leu) c.58836C>A (p.Phe19612Leu) c.56178C>A (p.Phe18726Leu) c.56097C>A (p.Phe18699Leu) c.37860C>A (p.Phe12620Leu) c.27714C>A (p.Phe9238Leu) | |
| 2 | g.178584677A>C | CA349436071 | TTN,TTN-AS1 | c.57260T>G (p.Phe19087Cys) c.38345T>G (p.Phe12782Cys) c.38144T>G (p.Phe12715Cys) c.37769T>G (p.Phe12590Cys) c.64964T>G (p.Phe21655Cys) c.60041T>G (p.Phe20014Cys) n.597-12919A>C n.2872A>C c.64061T>G (p.Phe21354Cys) c.37955T>G (p.Phe12652Cys) c.37814T>G (p.Phe12605Cys) c.63857T>G (p.Phe21286Cys) c.59255T>G (p.Phe19752Cys) c.59252T>G (p.Phe19751Cys) c.56294T>G (p.Phe18765Cys) c.37910T>G (p.Phe12637Cys) c.59405T>G (p.Phe19802Cys) c.59402T>G (p.Phe19801Cys) c.58835T>G (p.Phe19612Cys) c.56177T>G (p.Phe18726Cys) c.56096T>G (p.Phe18699Cys) c.37859T>G (p.Phe12620Cys) c.27713T>G (p.Phe9238Cys) | |
| 2 | g.178584677A>G | CA349436073 | TTN,TTN-AS1 | c.57260T>C (p.Phe19087Ser) c.38345T>C (p.Phe12782Ser) c.38144T>C (p.Phe12715Ser) c.37769T>C (p.Phe12590Ser) c.64964T>C (p.Phe21655Ser) c.60041T>C (p.Phe20014Ser) n.597-12919A>G n.2872A>G c.64061T>C (p.Phe21354Ser) c.37955T>C (p.Phe12652Ser) c.37814T>C (p.Phe12605Ser) c.63857T>C (p.Phe21286Ser) c.59255T>C (p.Phe19752Ser) c.59252T>C (p.Phe19751Ser) c.56294T>C (p.Phe18765Ser) c.37910T>C (p.Phe12637Ser) c.59405T>C (p.Phe19802Ser) c.59402T>C (p.Phe19801Ser) c.58835T>C (p.Phe19612Ser) c.56177T>C (p.Phe18726Ser) c.56096T>C (p.Phe18699Ser) c.37859T>C (p.Phe12620Ser) c.27713T>C (p.Phe9238Ser) | |
| 2 | g.178584677A>T | CA349436074 | TTN,TTN-AS1 | c.57260T>A (p.Phe19087Tyr) c.38345T>A (p.Phe12782Tyr) c.38144T>A (p.Phe12715Tyr) c.37769T>A (p.Phe12590Tyr) c.64964T>A (p.Phe21655Tyr) c.60041T>A (p.Phe20014Tyr) n.597-12919A>T n.2872A>T c.64061T>A (p.Phe21354Tyr) c.37955T>A (p.Phe12652Tyr) c.37814T>A (p.Phe12605Tyr) c.63857T>A (p.Phe21286Tyr) c.59255T>A (p.Phe19752Tyr) c.59252T>A (p.Phe19751Tyr) c.56294T>A (p.Phe18765Tyr) c.37910T>A (p.Phe12637Tyr) c.59405T>A (p.Phe19802Tyr) c.59402T>A (p.Phe19801Tyr) c.58835T>A (p.Phe19612Tyr) c.56177T>A (p.Phe18726Tyr) c.56096T>A (p.Phe18699Tyr) c.37859T>A (p.Phe12620Tyr) c.27713T>A (p.Phe9238Tyr) | gnomAD v4 |
| 2 | g.178584678A>C | CA349436078 | TTN,TTN-AS1 | c.57259T>G (p.Phe19087Val) c.38344T>G (p.Phe12782Val) c.38143T>G (p.Phe12715Val) c.37768T>G (p.Phe12590Val) c.64963T>G (p.Phe21655Val) c.60040T>G (p.Phe20014Val) n.597-12918A>C n.2873A>C c.64060T>G (p.Phe21354Val) c.37954T>G (p.Phe12652Val) c.37813T>G (p.Phe12605Val) c.63856T>G (p.Phe21286Val) c.59254T>G (p.Phe19752Val) c.59251T>G (p.Phe19751Val) c.56293T>G (p.Phe18765Val) c.37909T>G (p.Phe12637Val) c.59404T>G (p.Phe19802Val) c.59401T>G (p.Phe19801Val) c.58834T>G (p.Phe19612Val) c.56176T>G (p.Phe18726Val) c.56095T>G (p.Phe18699Val) c.37858T>G (p.Phe12620Val) c.27712T>G (p.Phe9238Val) | |
| 2 | g.178584678A>G | CA349436079 | TTN,TTN-AS1 | c.57259T>C (p.Phe19087Leu) c.38344T>C (p.Phe12782Leu) c.38143T>C (p.Phe12715Leu) c.37768T>C (p.Phe12590Leu) c.64963T>C (p.Phe21655Leu) c.60040T>C (p.Phe20014Leu) n.597-12918A>G n.2873A>G c.64060T>C (p.Phe21354Leu) c.37954T>C (p.Phe12652Leu) c.37813T>C (p.Phe12605Leu) c.63856T>C (p.Phe21286Leu) c.59254T>C (p.Phe19752Leu) c.59251T>C (p.Phe19751Leu) c.56293T>C (p.Phe18765Leu) c.37909T>C (p.Phe12637Leu) c.59404T>C (p.Phe19802Leu) c.59401T>C (p.Phe19801Leu) c.58834T>C (p.Phe19612Leu) c.56176T>C (p.Phe18726Leu) c.56095T>C (p.Phe18699Leu) c.37858T>C (p.Phe12620Leu) c.27712T>C (p.Phe9238Leu) | |
| 2 | g.178584678A>T | CA349436080 | TTN,TTN-AS1 | c.57259T>A (p.Phe19087Ile) c.38344T>A (p.Phe12782Ile) c.38143T>A (p.Phe12715Ile) c.37768T>A (p.Phe12590Ile) c.64963T>A (p.Phe21655Ile) c.60040T>A (p.Phe20014Ile) n.597-12918A>T n.2873A>T c.64060T>A (p.Phe21354Ile) c.37954T>A (p.Phe12652Ile) c.37813T>A (p.Phe12605Ile) c.63856T>A (p.Phe21286Ile) c.59254T>A (p.Phe19752Ile) c.59251T>A (p.Phe19751Ile) c.56293T>A (p.Phe18765Ile) c.37909T>A (p.Phe12637Ile) c.59404T>A (p.Phe19802Ile) c.59401T>A (p.Phe19801Ile) c.58834T>A (p.Phe19612Ile) c.56176T>A (p.Phe18726Ile) c.56095T>A (p.Phe18699Ile) c.37858T>A (p.Phe12620Ile) c.27712T>A (p.Phe9238Ile) | |
| 2 | g.178584679C>A | CA349436082 | TTN,TTN-AS1 | c.57258G>T (p.Gln19086His) c.38343G>T (p.Gln12781His) c.38142G>T (p.Gln12714His) c.37767G>T (p.Gln12589His) c.64962G>T (p.Gln21654His) c.60039G>T (p.Gln20013His) n.597-12917C>A n.2874C>A c.64059G>T (p.Gln21353His) c.37953G>T (p.Gln12651His) c.37812G>T (p.Gln12604His) c.63855G>T (p.Gln21285His) c.59253G>T (p.Gln19751His) c.59250G>T (p.Gln19750His) c.56292G>T (p.Gln18764His) c.37908G>T (p.Gln12636His) c.59403G>T (p.Gln19801His) c.59400G>T (p.Gln19800His) c.58833G>T (p.Gln19611His) c.56175G>T (p.Gln18725His) c.56094G>T (p.Gln18698His) c.37857G>T (p.Gln12619His) c.27711G>T (p.Gln9237His) | |
| 2 | g.178584679C>G | CA349436083 | TTN,TTN-AS1 | c.57258G>C (p.Gln19086His) c.38343G>C (p.Gln12781His) c.38142G>C (p.Gln12714His) c.37767G>C (p.Gln12589His) c.64962G>C (p.Gln21654His) c.60039G>C (p.Gln20013His) n.597-12917C>G n.2874C>G c.64059G>C (p.Gln21353His) c.37953G>C (p.Gln12651His) c.37812G>C (p.Gln12604His) c.63855G>C (p.Gln21285His) c.59253G>C (p.Gln19751His) c.59250G>C (p.Gln19750His) c.56292G>C (p.Gln18764His) c.37908G>C (p.Gln12636His) c.59403G>C (p.Gln19801His) c.59400G>C (p.Gln19800His) c.58833G>C (p.Gln19611His) c.56175G>C (p.Gln18725His) c.56094G>C (p.Gln18698His) c.37857G>C (p.Gln12619His) c.27711G>C (p.Gln9237His) | |
| 2 | g.178584679C>T | CA430264060 | TTN,TTN-AS1 | c.57258G>A (p.Gln19086=) c.38343G>A (p.Gln12781=) c.38142G>A (p.Gln12714=) c.37767G>A (p.Gln12589=) c.64962G>A (p.Gln21654=) c.60039G>A (p.Gln20013=) n.597-12917C>T n.2874C>T c.64059G>A (p.Gln21353=) c.37953G>A (p.Gln12651=) c.37812G>A (p.Gln12604=) c.63855G>A (p.Gln21285=) c.59253G>A (p.Gln19751=) c.59250G>A (p.Gln19750=) c.56292G>A (p.Gln18764=) c.37908G>A (p.Gln12636=) c.59403G>A (p.Gln19801=) c.59400G>A (p.Gln19800=) c.58833G>A (p.Gln19611=) c.56175G>A (p.Gln18725=) c.56094G>A (p.Gln18698=) c.37857G>A (p.Gln12619=) c.27711G>A (p.Gln9237=) | |
| 2 | g.178584680T>A | CA349436085 | TTN,TTN-AS1 | c.57257A>T (p.Gln19086Leu) c.38342A>T (p.Gln12781Leu) c.38141A>T (p.Gln12714Leu) c.37766A>T (p.Gln12589Leu) c.64961A>T (p.Gln21654Leu) c.60038A>T (p.Gln20013Leu) n.597-12916T>A n.2875T>A c.64058A>T (p.Gln21353Leu) c.37952A>T (p.Gln12651Leu) c.37811A>T (p.Gln12604Leu) c.63854A>T (p.Gln21285Leu) c.59252A>T (p.Gln19751Leu) c.59249A>T (p.Gln19750Leu) c.56291A>T (p.Gln18764Leu) c.37907A>T (p.Gln12636Leu) c.59402A>T (p.Gln19801Leu) c.59399A>T (p.Gln19800Leu) c.58832A>T (p.Gln19611Leu) c.56174A>T (p.Gln18725Leu) c.56093A>T (p.Gln18698Leu) c.37856A>T (p.Gln12619Leu) c.27710A>T (p.Gln9237Leu) | |
| 2 | g.178584680T>C | CA1991813 | TTN,TTN-AS1 | c.57257A>G (p.Gln19086Arg) c.38342A>G (p.Gln12781Arg) c.38141A>G (p.Gln12714Arg) c.37766A>G (p.Gln12589Arg) c.64961A>G (p.Gln21654Arg) c.60038A>G (p.Gln20013Arg) n.597-12916T>C n.2875T>C c.64058A>G (p.Gln21353Arg) c.37952A>G (p.Gln12651Arg) c.37811A>G (p.Gln12604Arg) c.63854A>G (p.Gln21285Arg) c.59252A>G (p.Gln19751Arg) c.59249A>G (p.Gln19750Arg) c.56291A>G (p.Gln18764Arg) c.37907A>G (p.Gln12636Arg) c.59402A>G (p.Gln19801Arg) c.59399A>G (p.Gln19800Arg) c.58832A>G (p.Gln19611Arg) c.56174A>G (p.Gln18725Arg) c.56093A>G (p.Gln18698Arg) c.37856A>G (p.Gln12619Arg) c.27710A>G (p.Gln9237Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.178584680T>G | CA349436087 | TTN,TTN-AS1 | c.57257A>C (p.Gln19086Pro) c.38342A>C (p.Gln12781Pro) c.38141A>C (p.Gln12714Pro) c.37766A>C (p.Gln12589Pro) c.64961A>C (p.Gln21654Pro) c.60038A>C (p.Gln20013Pro) n.597-12916T>G n.2875T>G c.64058A>C (p.Gln21353Pro) c.37952A>C (p.Gln12651Pro) c.37811A>C (p.Gln12604Pro) c.63854A>C (p.Gln21285Pro) c.59252A>C (p.Gln19751Pro) c.59249A>C (p.Gln19750Pro) c.56291A>C (p.Gln18764Pro) c.37907A>C (p.Gln12636Pro) c.59402A>C (p.Gln19801Pro) c.59399A>C (p.Gln19800Pro) c.58832A>C (p.Gln19611Pro) c.56174A>C (p.Gln18725Pro) c.56093A>C (p.Gln18698Pro) c.37856A>C (p.Gln12619Pro) c.27710A>C (p.Gln9237Pro) | |
| 2 | g.178584680T= | CA1310537123 | TTN,TTN-AS1 | c.57257A= (p.Gln19086=) c.38342A= (p.Gln12781=) c.38141A= (p.Gln12714=) c.37766A= (p.Gln12589=) c.64961A= (p.Gln21654=) c.60038A= (p.Gln20013=) n.597-12916T= n.2875T= c.64058A= (p.Gln21353=) c.37952A= (p.Gln12651=) c.37811A= (p.Gln12604=) c.63854A= (p.Gln21285=) c.59252A= (p.Gln19751=) c.59249A= (p.Gln19750=) c.56291A= (p.Gln18764=) c.37907A= (p.Gln12636=) c.59402A= (p.Gln19801=) c.59399A= (p.Gln19800=) c.58832A= (p.Gln19611=) c.56174A= (p.Gln18725=) c.56093A= (p.Gln18698=) c.37856A= (p.Gln12619=) c.27710A= (p.Gln9237=) | |
| 2 | g.178584681G>A | CA349436092 | TTN,TTN-AS1 | c.57256C>T (p.Gln19086Ter) c.38341C>T (p.Gln12781Ter) c.38140C>T (p.Gln12714Ter) c.37765C>T (p.Gln12589Ter) c.64960C>T (p.Gln21654Ter) c.60037C>T (p.Gln20013Ter) n.597-12915G>A n.2876G>A c.64057C>T (p.Gln21353Ter) c.37951C>T (p.Gln12651Ter) c.37810C>T (p.Gln12604Ter) c.63853C>T (p.Gln21285Ter) c.59251C>T (p.Gln19751Ter) c.59248C>T (p.Gln19750Ter) c.56290C>T (p.Gln18764Ter) c.37906C>T (p.Gln12636Ter) c.59401C>T (p.Gln19801Ter) c.59398C>T (p.Gln19800Ter) c.58831C>T (p.Gln19611Ter) c.56173C>T (p.Gln18725Ter) c.56092C>T (p.Gln18698Ter) c.37855C>T (p.Gln12619Ter) c.27709C>T (p.Gln9237Ter) | |
| 2 | g.178584681G>C | CA349436091 | TTN,TTN-AS1 | c.57256C>G (p.Gln19086Glu) c.38341C>G (p.Gln12781Glu) c.38140C>G (p.Gln12714Glu) c.37765C>G (p.Gln12589Glu) c.64960C>G (p.Gln21654Glu) c.60037C>G (p.Gln20013Glu) n.597-12915G>C n.2876G>C c.64057C>G (p.Gln21353Glu) c.37951C>G (p.Gln12651Glu) c.37810C>G (p.Gln12604Glu) c.63853C>G (p.Gln21285Glu) c.59251C>G (p.Gln19751Glu) c.59248C>G (p.Gln19750Glu) c.56290C>G (p.Gln18764Glu) c.37906C>G (p.Gln12636Glu) c.59401C>G (p.Gln19801Glu) c.59398C>G (p.Gln19800Glu) c.58831C>G (p.Gln19611Glu) c.56173C>G (p.Gln18725Glu) c.56092C>G (p.Gln18698Glu) c.37855C>G (p.Gln12619Glu) c.27709C>G (p.Gln9237Glu) | |
| 2 | g.178584681G>T | CA349436089 | TTN,TTN-AS1 | c.57256C>A (p.Gln19086Lys) c.38341C>A (p.Gln12781Lys) c.38140C>A (p.Gln12714Lys) c.37765C>A (p.Gln12589Lys) c.64960C>A (p.Gln21654Lys) c.60037C>A (p.Gln20013Lys) n.597-12915G>T n.2876G>T c.64057C>A (p.Gln21353Lys) c.37951C>A (p.Gln12651Lys) c.37810C>A (p.Gln12604Lys) c.63853C>A (p.Gln21285Lys) c.59251C>A (p.Gln19751Lys) c.59248C>A (p.Gln19750Lys) c.56290C>A (p.Gln18764Lys) c.37906C>A (p.Gln12636Lys) c.59401C>A (p.Gln19801Lys) c.59398C>A (p.Gln19800Lys) c.58831C>A (p.Gln19611Lys) c.56173C>A (p.Gln18725Lys) c.56092C>A (p.Gln18698Lys) c.37855C>A (p.Gln12619Lys) c.27709C>A (p.Gln9237Lys) | |
| 2 | g.178584682C>A | CA430264065 | TTN,TTN-AS1 | c.57255G>T (p.Ala19085=) c.38340G>T (p.Ala12780=) c.38139G>T (p.Ala12713=) c.37764G>T (p.Ala12588=) c.64959G>T (p.Ala21653=) c.60036G>T (p.Ala20012=) n.597-12914C>A n.2877C>A c.64056G>T (p.Ala21352=) c.37950G>T (p.Ala12650=) c.37809G>T (p.Ala12603=) c.63852G>T (p.Ala21284=) c.59250G>T (p.Ala19750=) c.59247G>T (p.Ala19749=) c.56289G>T (p.Ala18763=) c.37905G>T (p.Ala12635=) c.59400G>T (p.Ala19800=) c.59397G>T (p.Ala19799=) c.58830G>T (p.Ala19610=) c.56172G>T (p.Ala18724=) c.56091G>T (p.Ala18697=) c.37854G>T (p.Ala12618=) c.27708G>T (p.Ala9236=) | |
| 2 | g.178584682C= | CA1310537124 | TTN,TTN-AS1 | c.57255G= (p.Ala19085=) c.38340G= (p.Ala12780=) c.38139G= (p.Ala12713=) c.37764G= (p.Ala12588=) c.64959G= (p.Ala21653=) c.60036G= (p.Ala20012=) n.597-12914C= n.2877C= c.64056G= (p.Ala21352=) c.37950G= (p.Ala12650=) c.37809G= (p.Ala12603=) c.63852G= (p.Ala21284=) c.59250G= (p.Ala19750=) c.59247G= (p.Ala19749=) c.56289G= (p.Ala18763=) c.37905G= (p.Ala12635=) c.59400G= (p.Ala19800=) c.59397G= (p.Ala19799=) c.58830G= (p.Ala19610=) c.56172G= (p.Ala18724=) c.56091G= (p.Ala18697=) c.37854G= (p.Ala12618=) c.27708G= (p.Ala9236=) |