| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.178560066_178564516del | CA915942193 | TTN,TTN-AS1 | c.73914_78364del (p.Val24639GlnfsTer4) c.54999_59449del (p.Val18334GlnfsTer4) c.54798_59248del (p.Val18267GlnfsTer4) c.54423_58873del (p.Val18142GlnfsTer4) c.81618_86068del (p.Val27207GlnfsTer4) c.76695_81145del (p.Val25566GlnfsTer4) n.447-11234_447-6784del n.2043+17705_2044-18056del c.80715_85165del (p.Val26906GlnfsTer4) c.54609_59059del (p.Val18204GlnfsTer4) c.54468_58918del (p.Val18157GlnfsTer4) c.80511_84961del (p.Val26838GlnfsTer4) c.75909_80359del (p.Val25304GlnfsTer4) c.75906_80356del (p.Val25303GlnfsTer4) c.72948_77398del (p.Val24317GlnfsTer4) c.54564_59014del (p.Val18189GlnfsTer4) c.76059_80509del (p.Val25354GlnfsTer4) c.76056_80506del (p.Val25353GlnfsTer4) c.75489_79939del (p.Val25164GlnfsTer4) c.72831_77281del (p.Val24278GlnfsTer4) c.72750_77200del (p.Val24251GlnfsTer4) c.54513_58963del (p.Val18172GlnfsTer4) c.44367_48817del (p.Val14790GlnfsTer4) | ClinVar |
| 2 | g.178560512_178560520delinsTACACTCTC | CA1310527064 | TTN,TTN-AS1 | c.77908_77916delinsGAGAGTGTA (p.Glu25970=) c.58993_59001delinsGAGAGTGTA (p.Glu19665=) c.58792_58800delinsGAGAGTGTA (p.Glu19598=) c.58417_58425delinsGAGAGTGTA (p.Glu19473=) c.85612_85620delinsGAGAGTGTA (p.Glu28538=) c.80689_80697delinsGAGAGTGTA (p.Glu26897=) n.447-10788_447-10780delinsTACACTCTC n.2043+18151_2043+18159delinsTACACTCTC c.84709_84717delinsGAGAGTGTA (p.Glu28237=) c.58603_58611delinsGAGAGTGTA (p.Glu19535=) c.58462_58470delinsGAGAGTGTA (p.Glu19488=) c.84505_84513delinsGAGAGTGTA (p.Glu28169=) c.79903_79911delinsGAGAGTGTA (p.Glu26635=) c.79900_79908delinsGAGAGTGTA (p.Glu26634=) c.76942_76950delinsGAGAGTGTA (p.Glu25648=) c.58558_58566delinsGAGAGTGTA (p.Glu19520=) c.80053_80061delinsGAGAGTGTA (p.Glu26685=) c.80050_80058delinsGAGAGTGTA (p.Glu26684=) c.79483_79491delinsGAGAGTGTA (p.Glu26495=) c.76825_76833delinsGAGAGTGTA (p.Glu25609=) c.76744_76752delinsGAGAGTGTA (p.Glu25582=) c.58507_58515delinsGAGAGTGTA (p.Glu19503=) c.48361_48369delinsGAGAGTGTA (p.Glu16121=) | |
| 2 | g.178560513_178560520del | CA309444 | TTN,TTN-AS1 | c.77908_77915del (p.Glu25970SerfsTer?) c.58993_59000del (p.Glu19665SerfsTer?) c.58792_58799del (p.Glu19598SerfsTer?) c.58417_58424del (p.Glu19473SerfsTer?) c.85612_85619del (p.Glu28538SerfsTer?) c.80689_80696del (p.Glu26897SerfsTer?) n.447-10787_447-10780del n.2043+18152_2043+18159del c.84709_84716del (p.Glu28237SerfsTer?) c.58603_58610del (p.Glu19535SerfsTer?) c.58462_58469del (p.Glu19488SerfsTer?) c.84505_84512del (p.Glu28169SerfsTer?) c.79903_79910del (p.Glu26635SerfsTer?) c.79900_79907del (p.Glu26634SerfsTer?) c.76942_76949del (p.Glu25648SerfsTer?) c.58558_58565del (p.Glu19520SerfsTer?) c.80053_80060del (p.Glu26685SerfsTer?) c.80050_80057del (p.Glu26684SerfsTer?) c.79483_79490del (p.Glu26495SerfsTer?) c.76825_76832del (p.Glu25609SerfsTer?) c.76744_76751del (p.Glu25582SerfsTer?) c.58507_58514del (p.Glu19503SerfsTer?) c.48361_48368del (p.Glu16121SerfsTer?) | ClinVar dbSNP |
| 2 | g.178560520_178560521del | CA645533920 | TTN,TTN-AS1 | c.77911_77912del (p.Ser25971CysfsTer?) c.58996_58997del (p.Ser19666CysfsTer?) c.58795_58796del (p.Ser19599CysfsTer?) c.58420_58421del (p.Ser19474CysfsTer?) c.85615_85616del (p.Ser28539CysfsTer?) c.80692_80693del (p.Ser26898CysfsTer?) n.447-10780_447-10779del n.2043+18159_2043+18160del c.84712_84713del (p.Ser28238CysfsTer?) c.58606_58607del (p.Ser19536CysfsTer?) c.58465_58466del (p.Ser19489CysfsTer?) c.84508_84509del (p.Ser28170CysfsTer?) c.79906_79907del (p.Ser26636CysfsTer?) c.79903_79904del (p.Ser26635CysfsTer?) c.76945_76946del (p.Ser25649CysfsTer?) c.58561_58562del (p.Ser19521CysfsTer?) c.80056_80057del (p.Ser26686CysfsTer?) c.80053_80054del (p.Ser26685CysfsTer?) c.79486_79487del (p.Ser26496CysfsTer?) c.76828_76829del (p.Ser25610CysfsTer?) c.76747_76748del (p.Ser25583CysfsTer?) c.58510_58511del (p.Ser19504CysfsTer?) c.48364_48365del (p.Ser16122CysfsTer?) | COSMIC COSMIC COSMIC COSMIC |
| 2 | g.178560518C>A | CA349551921 | TTN,TTN-AS1 | c.77910G>T (p.Glu25970Asp) c.58995G>T (p.Glu19665Asp) c.58794G>T (p.Glu19598Asp) c.58419G>T (p.Glu19473Asp) c.85614G>T (p.Glu28538Asp) c.80691G>T (p.Glu26897Asp) n.447-10782C>A n.2043+18157C>A c.84711G>T (p.Glu28237Asp) c.58605G>T (p.Glu19535Asp) c.58464G>T (p.Glu19488Asp) c.84507G>T (p.Glu28169Asp) c.79905G>T (p.Glu26635Asp) c.79902G>T (p.Glu26634Asp) c.76944G>T (p.Glu25648Asp) c.58560G>T (p.Glu19520Asp) c.80055G>T (p.Glu26685Asp) c.80052G>T (p.Glu26684Asp) c.79485G>T (p.Glu26495Asp) c.76827G>T (p.Glu25609Asp) c.76746G>T (p.Glu25582Asp) c.58509G>T (p.Glu19503Asp) c.48363G>T (p.Glu16121Asp) | dbSNP |
| 2 | g.178560518C>G | CA349551924 | TTN,TTN-AS1 | c.77910G>C (p.Glu25970Asp) c.58995G>C (p.Glu19665Asp) c.58794G>C (p.Glu19598Asp) c.58419G>C (p.Glu19473Asp) c.85614G>C (p.Glu28538Asp) c.80691G>C (p.Glu26897Asp) n.447-10782C>G n.2043+18157C>G c.84711G>C (p.Glu28237Asp) c.58605G>C (p.Glu19535Asp) c.58464G>C (p.Glu19488Asp) c.84507G>C (p.Glu28169Asp) c.79905G>C (p.Glu26635Asp) c.79902G>C (p.Glu26634Asp) c.76944G>C (p.Glu25648Asp) c.58560G>C (p.Glu19520Asp) c.80055G>C (p.Glu26685Asp) c.80052G>C (p.Glu26684Asp) c.79485G>C (p.Glu26495Asp) c.76827G>C (p.Glu25609Asp) c.76746G>C (p.Glu25582Asp) c.58509G>C (p.Glu19503Asp) c.48363G>C (p.Glu16121Asp) | |
| 2 | g.178560518C>T | CA430248592 | TTN,TTN-AS1 | c.77910G>A (p.Glu25970=) c.58995G>A (p.Glu19665=) c.58794G>A (p.Glu19598=) c.58419G>A (p.Glu19473=) c.85614G>A (p.Glu28538=) c.80691G>A (p.Glu26897=) n.447-10782C>T n.2043+18157C>T c.84711G>A (p.Glu28237=) c.58605G>A (p.Glu19535=) c.58464G>A (p.Glu19488=) c.84507G>A (p.Glu28169=) c.79905G>A (p.Glu26635=) c.79902G>A (p.Glu26634=) c.76944G>A (p.Glu25648=) c.58560G>A (p.Glu19520=) c.80055G>A (p.Glu26685=) c.80052G>A (p.Glu26684=) c.79485G>A (p.Glu26495=) c.76827G>A (p.Glu25609=) c.76746G>A (p.Glu25582=) c.58509G>A (p.Glu19503=) c.48363G>A (p.Glu16121=) | |
| 2 | g.178560518_178560519insGAGA | CA1039704821 | TTN,TTN-AS1 | c.77909_77910insTCTC (p.Glu25970AspfsTer?) c.58994_58995insTCTC (p.Glu19665AspfsTer?) c.58793_58794insTCTC (p.Glu19598AspfsTer?) c.58418_58419insTCTC (p.Glu19473AspfsTer?) c.85613_85614insTCTC (p.Glu28538AspfsTer?) c.80690_80691insTCTC (p.Glu26897AspfsTer?) n.447-10782_447-10781insGAGA n.2043+18157_2043+18158insGAGA c.84710_84711insTCTC (p.Glu28237AspfsTer?) c.58604_58605insTCTC (p.Glu19535AspfsTer?) c.58463_58464insTCTC (p.Glu19488AspfsTer?) c.84506_84507insTCTC (p.Glu28169AspfsTer?) c.79904_79905insTCTC (p.Glu26635AspfsTer?) c.79901_79902insTCTC (p.Glu26634AspfsTer?) c.76943_76944insTCTC (p.Glu25648AspfsTer?) c.58559_58560insTCTC (p.Glu19520AspfsTer?) c.80054_80055insTCTC (p.Glu26685AspfsTer?) c.80051_80052insTCTC (p.Glu26684AspfsTer?) c.79484_79485insTCTC (p.Glu26495AspfsTer?) c.76826_76827insTCTC (p.Glu25609AspfsTer?) c.76745_76746insTCTC (p.Glu25582AspfsTer?) c.58508_58509insTCTC (p.Glu19503AspfsTer?) c.48362_48363insTCTC (p.Glu16121AspfsTer?) | gnomAD v3 gnomAD v4 |
| 2 | g.178560519del | CA2662128606 | TTN,TTN-AS1 | c.77909del (p.Glu25970GlyfsTer3) c.58994del (p.Glu19665GlyfsTer3) c.58793del (p.Glu19598GlyfsTer3) c.58418del (p.Glu19473GlyfsTer3) c.85613del (p.Glu28538GlyfsTer3) c.80690del (p.Glu26897GlyfsTer3) n.447-10781del n.2043+18158del c.84710del (p.Glu28237GlyfsTer3) c.58604del (p.Glu19535GlyfsTer3) c.58463del (p.Glu19488GlyfsTer3) c.84506del (p.Glu28169GlyfsTer3) c.79904del (p.Glu26635GlyfsTer3) c.79901del (p.Glu26634GlyfsTer3) c.76943del (p.Glu25648GlyfsTer3) c.58559del (p.Glu19520GlyfsTer3) c.80054del (p.Glu26685GlyfsTer3) c.80051del (p.Glu26684GlyfsTer3) c.79484del (p.Glu26495GlyfsTer3) c.76826del (p.Glu25609GlyfsTer3) c.76745del (p.Glu25582GlyfsTer3) c.58508del (p.Glu19503GlyfsTer3) c.48362del (p.Glu16121GlyfsTer3) | gnomAD v4 |
| 2 | g.178560519T>A | CA349551935 | TTN,TTN-AS1 | c.77909A>T (p.Glu25970Val) c.58994A>T (p.Glu19665Val) c.58793A>T (p.Glu19598Val) c.58418A>T (p.Glu19473Val) c.85613A>T (p.Glu28538Val) c.80690A>T (p.Glu26897Val) n.447-10781T>A n.2043+18158T>A c.84710A>T (p.Glu28237Val) c.58604A>T (p.Glu19535Val) c.58463A>T (p.Glu19488Val) c.84506A>T (p.Glu28169Val) c.79904A>T (p.Glu26635Val) c.79901A>T (p.Glu26634Val) c.76943A>T (p.Glu25648Val) c.58559A>T (p.Glu19520Val) c.80054A>T (p.Glu26685Val) c.80051A>T (p.Glu26684Val) c.79484A>T (p.Glu26495Val) c.76826A>T (p.Glu25609Val) c.76745A>T (p.Glu25582Val) c.58508A>T (p.Glu19503Val) c.48362A>T (p.Glu16121Val) | |
| 2 | g.178560519T>C | CA349551940 | TTN,TTN-AS1 | c.77909A>G (p.Glu25970Gly) c.58994A>G (p.Glu19665Gly) c.58793A>G (p.Glu19598Gly) c.58418A>G (p.Glu19473Gly) c.85613A>G (p.Glu28538Gly) c.80690A>G (p.Glu26897Gly) n.447-10781T>C n.2043+18158T>C c.84710A>G (p.Glu28237Gly) c.58604A>G (p.Glu19535Gly) c.58463A>G (p.Glu19488Gly) c.84506A>G (p.Glu28169Gly) c.79904A>G (p.Glu26635Gly) c.79901A>G (p.Glu26634Gly) c.76943A>G (p.Glu25648Gly) c.58559A>G (p.Glu19520Gly) c.80054A>G (p.Glu26685Gly) c.80051A>G (p.Glu26684Gly) c.79484A>G (p.Glu26495Gly) c.76826A>G (p.Glu25609Gly) c.76745A>G (p.Glu25582Gly) c.58508A>G (p.Glu19503Gly) c.48362A>G (p.Glu16121Gly) | |
| 2 | g.178560519T>G | CA349551932 | TTN,TTN-AS1 | c.77909A>C (p.Glu25970Ala) c.58994A>C (p.Glu19665Ala) c.58793A>C (p.Glu19598Ala) c.58418A>C (p.Glu19473Ala) c.85613A>C (p.Glu28538Ala) c.80690A>C (p.Glu26897Ala) n.447-10781T>G n.2043+18158T>G c.84710A>C (p.Glu28237Ala) c.58604A>C (p.Glu19535Ala) c.58463A>C (p.Glu19488Ala) c.84506A>C (p.Glu28169Ala) c.79904A>C (p.Glu26635Ala) c.79901A>C (p.Glu26634Ala) c.76943A>C (p.Glu25648Ala) c.58559A>C (p.Glu19520Ala) c.80054A>C (p.Glu26685Ala) c.80051A>C (p.Glu26684Ala) c.79484A>C (p.Glu26495Ala) c.76826A>C (p.Glu25609Ala) c.76745A>C (p.Glu25582Ala) c.58508A>C (p.Glu19503Ala) c.48362A>C (p.Glu16121Ala) | |
| 2 | g.178560520C>A | CA349551941 | TTN,TTN-AS1 | c.77908G>T (p.Glu25970Ter) c.58993G>T (p.Glu19665Ter) c.58792G>T (p.Glu19598Ter) c.58417G>T (p.Glu19473Ter) c.85612G>T (p.Glu28538Ter) c.80689G>T (p.Glu26897Ter) n.447-10780C>A n.2043+18159C>A c.84709G>T (p.Glu28237Ter) c.58603G>T (p.Glu19535Ter) c.58462G>T (p.Glu19488Ter) c.84505G>T (p.Glu28169Ter) c.79903G>T (p.Glu26635Ter) c.79900G>T (p.Glu26634Ter) c.76942G>T (p.Glu25648Ter) c.58558G>T (p.Glu19520Ter) c.80053G>T (p.Glu26685Ter) c.80050G>T (p.Glu26684Ter) c.79483G>T (p.Glu26495Ter) c.76825G>T (p.Glu25609Ter) c.76744G>T (p.Glu25582Ter) c.58507G>T (p.Glu19503Ter) c.48361G>T (p.Glu16121Ter) | |
| 2 | g.178560520C= | CA1310527066 | TTN,TTN-AS1 | c.77908G= (p.Glu25970=) c.58993G= (p.Glu19665=) c.58792G= (p.Glu19598=) c.58417G= (p.Glu19473=) c.85612G= (p.Glu28538=) c.80689G= (p.Glu26897=) n.447-10780C= n.2043+18159C= c.84709G= (p.Glu28237=) c.58603G= (p.Glu19535=) c.58462G= (p.Glu19488=) c.84505G= (p.Glu28169=) c.79903G= (p.Glu26635=) c.79900G= (p.Glu26634=) c.76942G= (p.Glu25648=) c.58558G= (p.Glu19520=) c.80053G= (p.Glu26685=) c.80050G= (p.Glu26684=) c.79483G= (p.Glu26495=) c.76825G= (p.Glu25609=) c.76744G= (p.Glu25582=) c.58507G= (p.Glu19503=) c.48361G= (p.Glu16121=) | |
| 2 | g.178560520C>G | CA349551942 | TTN,TTN-AS1 | c.77908G>C (p.Glu25970Gln) c.58993G>C (p.Glu19665Gln) c.58792G>C (p.Glu19598Gln) c.58417G>C (p.Glu19473Gln) c.85612G>C (p.Glu28538Gln) c.80689G>C (p.Glu26897Gln) n.447-10780C>G n.2043+18159C>G c.84709G>C (p.Glu28237Gln) c.58603G>C (p.Glu19535Gln) c.58462G>C (p.Glu19488Gln) c.84505G>C (p.Glu28169Gln) c.79903G>C (p.Glu26635Gln) c.79900G>C (p.Glu26634Gln) c.76942G>C (p.Glu25648Gln) c.58558G>C (p.Glu19520Gln) c.80053G>C (p.Glu26685Gln) c.80050G>C (p.Glu26684Gln) c.79483G>C (p.Glu26495Gln) c.76825G>C (p.Glu25609Gln) c.76744G>C (p.Glu25582Gln) c.58507G>C (p.Glu19503Gln) c.48361G>C (p.Glu16121Gln) | dbSNP COSMIC COSMIC COSMIC COSMIC |
| 2 | g.178560520C>T | CA349551945 | TTN,TTN-AS1 | c.77908G>A (p.Glu25970Lys) c.58993G>A (p.Glu19665Lys) c.58792G>A (p.Glu19598Lys) c.58417G>A (p.Glu19473Lys) c.85612G>A (p.Glu28538Lys) c.80689G>A (p.Glu26897Lys) n.447-10780C>T n.2043+18159C>T c.84709G>A (p.Glu28237Lys) c.58603G>A (p.Glu19535Lys) c.58462G>A (p.Glu19488Lys) c.84505G>A (p.Glu28169Lys) c.79903G>A (p.Glu26635Lys) c.79900G>A (p.Glu26634Lys) c.76942G>A (p.Glu25648Lys) c.58558G>A (p.Glu19520Lys) c.80053G>A (p.Glu26685Lys) c.80050G>A (p.Glu26684Lys) c.79483G>A (p.Glu26495Lys) c.76825G>A (p.Glu25609Lys) c.76744G>A (p.Glu25582Lys) c.58507G>A (p.Glu19503Lys) c.48361G>A (p.Glu16121Lys) | gnomAD v4 |
| 2 | g.178560521T>A | CA430248602 | TTN,TTN-AS1 | c.77907A>T (p.Leu25969=) c.58992A>T (p.Leu19664=) c.58791A>T (p.Leu19597=) c.58416A>T (p.Leu19472=) c.85611A>T (p.Leu28537=) c.80688A>T (p.Leu26896=) n.447-10779T>A n.2043+18160T>A c.84708A>T (p.Leu28236=) c.58602A>T (p.Leu19534=) c.58461A>T (p.Leu19487=) c.84504A>T (p.Leu28168=) c.79902A>T (p.Leu26634=) c.79899A>T (p.Leu26633=) c.76941A>T (p.Leu25647=) c.58557A>T (p.Leu19519=) c.80052A>T (p.Leu26684=) c.80049A>T (p.Leu26683=) c.79482A>T (p.Leu26494=) c.76824A>T (p.Leu25608=) c.76743A>T (p.Leu25581=) c.58506A>T (p.Leu19502=) c.48360A>T (p.Leu16120=) | dbSNP |
| 2 | g.178560521T>C | CA430248603 | TTN,TTN-AS1 | c.77907A>G (p.Leu25969=) c.58992A>G (p.Leu19664=) c.58791A>G (p.Leu19597=) c.58416A>G (p.Leu19472=) c.85611A>G (p.Leu28537=) c.80688A>G (p.Leu26896=) n.447-10779T>C n.2043+18160T>C c.84708A>G (p.Leu28236=) c.58602A>G (p.Leu19534=) c.58461A>G (p.Leu19487=) c.84504A>G (p.Leu28168=) c.79902A>G (p.Leu26634=) c.79899A>G (p.Leu26633=) c.76941A>G (p.Leu25647=) c.58557A>G (p.Leu19519=) c.80052A>G (p.Leu26684=) c.80049A>G (p.Leu26683=) c.79482A>G (p.Leu26494=) c.76824A>G (p.Leu25608=) c.76743A>G (p.Leu25581=) c.58506A>G (p.Leu19502=) c.48360A>G (p.Leu16120=) | |
| 2 | g.178560521T>G | CA430248604 | TTN,TTN-AS1 | c.77907A>C (p.Leu25969=) c.58992A>C (p.Leu19664=) c.58791A>C (p.Leu19597=) c.58416A>C (p.Leu19472=) c.85611A>C (p.Leu28537=) c.80688A>C (p.Leu26896=) n.447-10779T>G n.2043+18160T>G c.84708A>C (p.Leu28236=) c.58602A>C (p.Leu19534=) c.58461A>C (p.Leu19487=) c.84504A>C (p.Leu28168=) c.79902A>C (p.Leu26634=) c.79899A>C (p.Leu26633=) c.76941A>C (p.Leu25647=) c.58557A>C (p.Leu19519=) c.80052A>C (p.Leu26684=) c.80049A>C (p.Leu26683=) c.79482A>C (p.Leu26494=) c.76824A>C (p.Leu25608=) c.76743A>C (p.Leu25581=) c.58506A>C (p.Leu19502=) c.48360A>C (p.Leu16120=) | ClinVar |
| 2 | g.178560521T= | CA1310527067 | TTN,TTN-AS1 | c.77907A= (p.Leu25969=) c.58992A= (p.Leu19664=) c.58791A= (p.Leu19597=) c.58416A= (p.Leu19472=) c.85611A= (p.Leu28537=) c.80688A= (p.Leu26896=) n.447-10779T= n.2043+18160T= c.84708A= (p.Leu28236=) c.58602A= (p.Leu19534=) c.58461A= (p.Leu19487=) c.84504A= (p.Leu28168=) c.79902A= (p.Leu26634=) c.79899A= (p.Leu26633=) c.76941A= (p.Leu25647=) c.58557A= (p.Leu19519=) c.80052A= (p.Leu26684=) c.80049A= (p.Leu26683=) c.79482A= (p.Leu26494=) c.76824A= (p.Leu25608=) c.76743A= (p.Leu25581=) c.58506A= (p.Leu19502=) c.48360A= (p.Leu16120=) | |
| 2 | g.178560522A>C | CA349551949 | TTN,TTN-AS1 | c.77906T>G (p.Leu25969Arg) c.58991T>G (p.Leu19664Arg) c.58790T>G (p.Leu19597Arg) c.58415T>G (p.Leu19472Arg) c.85610T>G (p.Leu28537Arg) c.80687T>G (p.Leu26896Arg) n.447-10778A>C n.2043+18161A>C c.84707T>G (p.Leu28236Arg) c.58601T>G (p.Leu19534Arg) c.58460T>G (p.Leu19487Arg) c.84503T>G (p.Leu28168Arg) c.79901T>G (p.Leu26634Arg) c.79898T>G (p.Leu26633Arg) c.76940T>G (p.Leu25647Arg) c.58556T>G (p.Leu19519Arg) c.80051T>G (p.Leu26684Arg) c.80048T>G (p.Leu26683Arg) c.79481T>G (p.Leu26494Arg) c.76823T>G (p.Leu25608Arg) c.76742T>G (p.Leu25581Arg) c.58505T>G (p.Leu19502Arg) c.48359T>G (p.Leu16120Arg) | |
| 2 | g.178560522A>G | CA349551951 | TTN,TTN-AS1 | c.77906T>C (p.Leu25969Pro) c.58991T>C (p.Leu19664Pro) c.58790T>C (p.Leu19597Pro) c.58415T>C (p.Leu19472Pro) c.85610T>C (p.Leu28537Pro) c.80687T>C (p.Leu26896Pro) n.447-10778A>G n.2043+18161A>G c.84707T>C (p.Leu28236Pro) c.58601T>C (p.Leu19534Pro) c.58460T>C (p.Leu19487Pro) c.84503T>C (p.Leu28168Pro) c.79901T>C (p.Leu26634Pro) c.79898T>C (p.Leu26633Pro) c.76940T>C (p.Leu25647Pro) c.58556T>C (p.Leu19519Pro) c.80051T>C (p.Leu26684Pro) c.80048T>C (p.Leu26683Pro) c.79481T>C (p.Leu26494Pro) c.76823T>C (p.Leu25608Pro) c.76742T>C (p.Leu25581Pro) c.58505T>C (p.Leu19502Pro) c.48359T>C (p.Leu16120Pro) | gnomAD v4 |
| 2 | g.178560522A>T | CA349551952 | TTN,TTN-AS1 | c.77906T>A (p.Leu25969Gln) c.58991T>A (p.Leu19664Gln) c.58790T>A (p.Leu19597Gln) c.58415T>A (p.Leu19472Gln) c.85610T>A (p.Leu28537Gln) c.80687T>A (p.Leu26896Gln) n.447-10778A>T n.2043+18161A>T c.84707T>A (p.Leu28236Gln) c.58601T>A (p.Leu19534Gln) c.58460T>A (p.Leu19487Gln) c.84503T>A (p.Leu28168Gln) c.79901T>A (p.Leu26634Gln) c.79898T>A (p.Leu26633Gln) c.76940T>A (p.Leu25647Gln) c.58556T>A (p.Leu19519Gln) c.80051T>A (p.Leu26684Gln) c.80048T>A (p.Leu26683Gln) c.79481T>A (p.Leu26494Gln) c.76823T>A (p.Leu25608Gln) c.76742T>A (p.Leu25581Gln) c.58505T>A (p.Leu19502Gln) c.48359T>A (p.Leu16120Gln) | |
| 2 | g.178560523G>A | CA430248611 | TTN,TTN-AS1 | c.77905C>T (p.Leu25969=) c.58990C>T (p.Leu19664=) c.58789C>T (p.Leu19597=) c.58414C>T (p.Leu19472=) c.85609C>T (p.Leu28537=) c.80686C>T (p.Leu26896=) n.447-10777G>A n.2043+18162G>A c.84706C>T (p.Leu28236=) c.58600C>T (p.Leu19534=) c.58459C>T (p.Leu19487=) c.84502C>T (p.Leu28168=) c.79900C>T (p.Leu26634=) c.79897C>T (p.Leu26633=) c.76939C>T (p.Leu25647=) c.58555C>T (p.Leu19519=) c.80050C>T (p.Leu26684=) c.80047C>T (p.Leu26683=) c.79480C>T (p.Leu26494=) c.76822C>T (p.Leu25608=) c.76741C>T (p.Leu25581=) c.58504C>T (p.Leu19502=) c.48358C>T (p.Leu16120=) | |
| 2 | g.178560523G>C | CA349551965 | TTN,TTN-AS1 | c.77905C>G (p.Leu25969Val) c.58990C>G (p.Leu19664Val) c.58789C>G (p.Leu19597Val) c.58414C>G (p.Leu19472Val) c.85609C>G (p.Leu28537Val) c.80686C>G (p.Leu26896Val) n.447-10777G>C n.2043+18162G>C c.84706C>G (p.Leu28236Val) c.58600C>G (p.Leu19534Val) c.58459C>G (p.Leu19487Val) c.84502C>G (p.Leu28168Val) c.79900C>G (p.Leu26634Val) c.79897C>G (p.Leu26633Val) c.76939C>G (p.Leu25647Val) c.58555C>G (p.Leu19519Val) c.80050C>G (p.Leu26684Val) c.80047C>G (p.Leu26683Val) c.79480C>G (p.Leu26494Val) c.76822C>G (p.Leu25608Val) c.76741C>G (p.Leu25581Val) c.58504C>G (p.Leu19502Val) c.48358C>G (p.Leu16120Val) | gnomAD v3 gnomAD v4 |
| 2 | g.178560523G>T | CA349551966 | TTN,TTN-AS1 | c.77905C>A (p.Leu25969Ile) c.58990C>A (p.Leu19664Ile) c.58789C>A (p.Leu19597Ile) c.58414C>A (p.Leu19472Ile) c.85609C>A (p.Leu28537Ile) c.80686C>A (p.Leu26896Ile) n.447-10777G>T n.2043+18162G>T c.84706C>A (p.Leu28236Ile) c.58600C>A (p.Leu19534Ile) c.58459C>A (p.Leu19487Ile) c.84502C>A (p.Leu28168Ile) c.79900C>A (p.Leu26634Ile) c.79897C>A (p.Leu26633Ile) c.76939C>A (p.Leu25647Ile) c.58555C>A (p.Leu19519Ile) c.80050C>A (p.Leu26684Ile) c.80047C>A (p.Leu26683Ile) c.79480C>A (p.Leu26494Ile) c.76822C>A (p.Leu25608Ile) c.76741C>A (p.Leu25581Ile) c.58504C>A (p.Leu19502Ile) c.48358C>A (p.Leu16120Ile) | |
| 2 | g.178560524G>A | CA430248617 | TTN,TTN-AS1 | c.77904C>T (p.Pro25968=) c.58989C>T (p.Pro19663=) c.58788C>T (p.Pro19596=) c.58413C>T (p.Pro19471=) c.85608C>T (p.Pro28536=) c.80685C>T (p.Pro26895=) n.447-10776G>A n.2043+18163G>A c.84705C>T (p.Pro28235=) c.58599C>T (p.Pro19533=) c.58458C>T (p.Pro19486=) c.84501C>T (p.Pro28167=) c.79899C>T (p.Pro26633=) c.79896C>T (p.Pro26632=) c.76938C>T (p.Pro25646=) c.58554C>T (p.Pro19518=) c.80049C>T (p.Pro26683=) c.80046C>T (p.Pro26682=) c.79479C>T (p.Pro26493=) c.76821C>T (p.Pro25607=) c.76740C>T (p.Pro25580=) c.58503C>T (p.Pro19501=) c.48357C>T (p.Pro16119=) | gnomAD v3 gnomAD v4 |
| 2 | g.178560524G>C | CA430248618 | TTN,TTN-AS1 | c.77904C>G (p.Pro25968=) c.58989C>G (p.Pro19663=) c.58788C>G (p.Pro19596=) c.58413C>G (p.Pro19471=) c.85608C>G (p.Pro28536=) c.80685C>G (p.Pro26895=) n.447-10776G>C n.2043+18163G>C c.84705C>G (p.Pro28235=) c.58599C>G (p.Pro19533=) c.58458C>G (p.Pro19486=) c.84501C>G (p.Pro28167=) c.79899C>G (p.Pro26633=) c.79896C>G (p.Pro26632=) c.76938C>G (p.Pro25646=) c.58554C>G (p.Pro19518=) c.80049C>G (p.Pro26683=) c.80046C>G (p.Pro26682=) c.79479C>G (p.Pro26493=) c.76821C>G (p.Pro25607=) c.76740C>G (p.Pro25580=) c.58503C>G (p.Pro19501=) c.48357C>G (p.Pro16119=) | COSMIC COSMIC COSMIC COSMIC |
| 2 | g.178560524G>T | CA430248620 | TTN,TTN-AS1 | c.77904C>A (p.Pro25968=) c.58989C>A (p.Pro19663=) c.58788C>A (p.Pro19596=) c.58413C>A (p.Pro19471=) c.85608C>A (p.Pro28536=) c.80685C>A (p.Pro26895=) n.447-10776G>T n.2043+18163G>T c.84705C>A (p.Pro28235=) c.58599C>A (p.Pro19533=) c.58458C>A (p.Pro19486=) c.84501C>A (p.Pro28167=) c.79899C>A (p.Pro26633=) c.79896C>A (p.Pro26632=) c.76938C>A (p.Pro25646=) c.58554C>A (p.Pro19518=) c.80049C>A (p.Pro26683=) c.80046C>A (p.Pro26682=) c.79479C>A (p.Pro26493=) c.76821C>A (p.Pro25607=) c.76740C>A (p.Pro25580=) c.58503C>A (p.Pro19501=) c.48357C>A (p.Pro16119=) | |
| 2 | g.178560525G>A | CA349551968 | TTN,TTN-AS1 | c.77903C>T (p.Pro25968Leu) c.58988C>T (p.Pro19663Leu) c.58787C>T (p.Pro19596Leu) c.58412C>T (p.Pro19471Leu) c.85607C>T (p.Pro28536Leu) c.80684C>T (p.Pro26895Leu) n.447-10775G>A n.2043+18164G>A c.84704C>T (p.Pro28235Leu) c.58598C>T (p.Pro19533Leu) c.58457C>T (p.Pro19486Leu) c.84500C>T (p.Pro28167Leu) c.79898C>T (p.Pro26633Leu) c.79895C>T (p.Pro26632Leu) c.76937C>T (p.Pro25646Leu) c.58553C>T (p.Pro19518Leu) c.80048C>T (p.Pro26683Leu) c.80045C>T (p.Pro26682Leu) c.79478C>T (p.Pro26493Leu) c.76820C>T (p.Pro25607Leu) c.76739C>T (p.Pro25580Leu) c.58502C>T (p.Pro19501Leu) c.48356C>T (p.Pro16119Leu) | |
| 2 | g.178560525G>C | CA349551969 | TTN,TTN-AS1 | c.77903C>G (p.Pro25968Arg) c.58988C>G (p.Pro19663Arg) c.58787C>G (p.Pro19596Arg) c.58412C>G (p.Pro19471Arg) c.85607C>G (p.Pro28536Arg) c.80684C>G (p.Pro26895Arg) n.447-10775G>C n.2043+18164G>C c.84704C>G (p.Pro28235Arg) c.58598C>G (p.Pro19533Arg) c.58457C>G (p.Pro19486Arg) c.84500C>G (p.Pro28167Arg) c.79898C>G (p.Pro26633Arg) c.79895C>G (p.Pro26632Arg) c.76937C>G (p.Pro25646Arg) c.58553C>G (p.Pro19518Arg) c.80048C>G (p.Pro26683Arg) c.80045C>G (p.Pro26682Arg) c.79478C>G (p.Pro26493Arg) c.76820C>G (p.Pro25607Arg) c.76739C>G (p.Pro25580Arg) c.58502C>G (p.Pro19501Arg) c.48356C>G (p.Pro16119Arg) | gnomAD v3 gnomAD v4 |
| 2 | g.178560525G>T | CA349551970 | TTN,TTN-AS1 | c.77903C>A (p.Pro25968His) c.58988C>A (p.Pro19663His) c.58787C>A (p.Pro19596His) c.58412C>A (p.Pro19471His) c.85607C>A (p.Pro28536His) c.80684C>A (p.Pro26895His) n.447-10775G>T n.2043+18164G>T c.84704C>A (p.Pro28235His) c.58598C>A (p.Pro19533His) c.58457C>A (p.Pro19486His) c.84500C>A (p.Pro28167His) c.79898C>A (p.Pro26633His) c.79895C>A (p.Pro26632His) c.76937C>A (p.Pro25646His) c.58553C>A (p.Pro19518His) c.80048C>A (p.Pro26683His) c.80045C>A (p.Pro26682His) c.79478C>A (p.Pro26493His) c.76820C>A (p.Pro25607His) c.76739C>A (p.Pro25580His) c.58502C>A (p.Pro19501His) c.48356C>A (p.Pro16119His) | COSMIC COSMIC COSMIC COSMIC |
| 2 | g.178560526G>A | CA349551972 | TTN,TTN-AS1 | c.77902C>T (p.Pro25968Ser) c.58987C>T (p.Pro19663Ser) c.58786C>T (p.Pro19596Ser) c.58411C>T (p.Pro19471Ser) c.85606C>T (p.Pro28536Ser) c.80683C>T (p.Pro26895Ser) n.447-10774G>A n.2043+18165G>A c.84703C>T (p.Pro28235Ser) c.58597C>T (p.Pro19533Ser) c.58456C>T (p.Pro19486Ser) c.84499C>T (p.Pro28167Ser) c.79897C>T (p.Pro26633Ser) c.79894C>T (p.Pro26632Ser) c.76936C>T (p.Pro25646Ser) c.58552C>T (p.Pro19518Ser) c.80047C>T (p.Pro26683Ser) c.80044C>T (p.Pro26682Ser) c.79477C>T (p.Pro26493Ser) c.76819C>T (p.Pro25607Ser) c.76738C>T (p.Pro25580Ser) c.58501C>T (p.Pro19501Ser) c.48355C>T (p.Pro16119Ser) | |
| 2 | g.178560526G>C | CA349551977 | TTN,TTN-AS1 | c.77902C>G (p.Pro25968Ala) c.58987C>G (p.Pro19663Ala) c.58786C>G (p.Pro19596Ala) c.58411C>G (p.Pro19471Ala) c.85606C>G (p.Pro28536Ala) c.80683C>G (p.Pro26895Ala) n.447-10774G>C n.2043+18165G>C c.84703C>G (p.Pro28235Ala) c.58597C>G (p.Pro19533Ala) c.58456C>G (p.Pro19486Ala) c.84499C>G (p.Pro28167Ala) c.79897C>G (p.Pro26633Ala) c.79894C>G (p.Pro26632Ala) c.76936C>G (p.Pro25646Ala) c.58552C>G (p.Pro19518Ala) c.80047C>G (p.Pro26683Ala) c.80044C>G (p.Pro26682Ala) c.79477C>G (p.Pro26493Ala) c.76819C>G (p.Pro25607Ala) c.76738C>G (p.Pro25580Ala) c.58501C>G (p.Pro19501Ala) c.48355C>G (p.Pro16119Ala) | |
| 2 | g.178560526G= | CA1310527068 | TTN,TTN-AS1 | c.77902C= (p.Pro25968=) c.58987C= (p.Pro19663=) c.58786C= (p.Pro19596=) c.58411C= (p.Pro19471=) c.85606C= (p.Pro28536=) c.80683C= (p.Pro26895=) n.447-10774G= n.2043+18165G= c.84703C= (p.Pro28235=) c.58597C= (p.Pro19533=) c.58456C= (p.Pro19486=) c.84499C= (p.Pro28167=) c.79897C= (p.Pro26633=) c.79894C= (p.Pro26632=) c.76936C= (p.Pro25646=) c.58552C= (p.Pro19518=) c.80047C= (p.Pro26683=) c.80044C= (p.Pro26682=) c.79477C= (p.Pro26493=) c.76819C= (p.Pro25607=) c.76738C= (p.Pro25580=) c.58501C= (p.Pro19501=) c.48355C= (p.Pro16119=) | |
| 2 | g.178560526G>T | CA349551983 | TTN,TTN-AS1 | c.77902C>A (p.Pro25968Thr) c.58987C>A (p.Pro19663Thr) c.58786C>A (p.Pro19596Thr) c.58411C>A (p.Pro19471Thr) c.85606C>A (p.Pro28536Thr) c.80683C>A (p.Pro26895Thr) n.447-10774G>T n.2043+18165G>T c.84703C>A (p.Pro28235Thr) c.58597C>A (p.Pro19533Thr) c.58456C>A (p.Pro19486Thr) c.84499C>A (p.Pro28167Thr) c.79897C>A (p.Pro26633Thr) c.79894C>A (p.Pro26632Thr) c.76936C>A (p.Pro25646Thr) c.58552C>A (p.Pro19518Thr) c.80047C>A (p.Pro26683Thr) c.80044C>A (p.Pro26682Thr) c.79477C>A (p.Pro26493Thr) c.76819C>A (p.Pro25607Thr) c.76738C>A (p.Pro25580Thr) c.58501C>A (p.Pro19501Thr) c.48355C>A (p.Pro16119Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.178560527C>A | CA349551989 | TTN,TTN-AS1 | c.77901G>T (p.Glu25967Asp) c.58986G>T (p.Glu19662Asp) c.58785G>T (p.Glu19595Asp) c.58410G>T (p.Glu19470Asp) c.85605G>T (p.Glu28535Asp) c.80682G>T (p.Glu26894Asp) n.447-10773C>A n.2043+18166C>A c.84702G>T (p.Glu28234Asp) c.58596G>T (p.Glu19532Asp) c.58455G>T (p.Glu19485Asp) c.84498G>T (p.Glu28166Asp) c.79896G>T (p.Glu26632Asp) c.79893G>T (p.Glu26631Asp) c.76935G>T (p.Glu25645Asp) c.58551G>T (p.Glu19517Asp) c.80046G>T (p.Glu26682Asp) c.80043G>T (p.Glu26681Asp) c.79476G>T (p.Glu26492Asp) c.76818G>T (p.Glu25606Asp) c.76737G>T (p.Glu25579Asp) c.58500G>T (p.Glu19500Asp) c.48354G>T (p.Glu16118Asp) | gnomAD v4 |
| 2 | g.178560527C>G | CA349551987 | TTN,TTN-AS1 | c.77901G>C (p.Glu25967Asp) c.58986G>C (p.Glu19662Asp) c.58785G>C (p.Glu19595Asp) c.58410G>C (p.Glu19470Asp) c.85605G>C (p.Glu28535Asp) c.80682G>C (p.Glu26894Asp) n.447-10773C>G n.2043+18166C>G c.84702G>C (p.Glu28234Asp) c.58596G>C (p.Glu19532Asp) c.58455G>C (p.Glu19485Asp) c.84498G>C (p.Glu28166Asp) c.79896G>C (p.Glu26632Asp) c.79893G>C (p.Glu26631Asp) c.76935G>C (p.Glu25645Asp) c.58551G>C (p.Glu19517Asp) c.80046G>C (p.Glu26682Asp) c.80043G>C (p.Glu26681Asp) c.79476G>C (p.Glu26492Asp) c.76818G>C (p.Glu25606Asp) c.76737G>C (p.Glu25579Asp) c.58500G>C (p.Glu19500Asp) c.48354G>C (p.Glu16118Asp) | |
| 2 | g.178560527C>T | CA430248626 | TTN,TTN-AS1 | c.77901G>A (p.Glu25967=) c.58986G>A (p.Glu19662=) c.58785G>A (p.Glu19595=) c.58410G>A (p.Glu19470=) c.85605G>A (p.Glu28535=) c.80682G>A (p.Glu26894=) n.447-10773C>T n.2043+18166C>T c.84702G>A (p.Glu28234=) c.58596G>A (p.Glu19532=) c.58455G>A (p.Glu19485=) c.84498G>A (p.Glu28166=) c.79896G>A (p.Glu26632=) c.79893G>A (p.Glu26631=) c.76935G>A (p.Glu25645=) c.58551G>A (p.Glu19517=) c.80046G>A (p.Glu26682=) c.80043G>A (p.Glu26681=) c.79476G>A (p.Glu26492=) c.76818G>A (p.Glu25606=) c.76737G>A (p.Glu25579=) c.58500G>A (p.Glu19500=) c.48354G>A (p.Glu16118=) | gnomAD v4 |
| 2 | g.178560528T>A | CA349551997 | TTN,TTN-AS1 | c.77900A>T (p.Glu25967Val) c.58985A>T (p.Glu19662Val) c.58784A>T (p.Glu19595Val) c.58409A>T (p.Glu19470Val) c.85604A>T (p.Glu28535Val) c.80681A>T (p.Glu26894Val) n.447-10772T>A n.2043+18167T>A c.84701A>T (p.Glu28234Val) c.58595A>T (p.Glu19532Val) c.58454A>T (p.Glu19485Val) c.84497A>T (p.Glu28166Val) c.79895A>T (p.Glu26632Val) c.79892A>T (p.Glu26631Val) c.76934A>T (p.Glu25645Val) c.58550A>T (p.Glu19517Val) c.80045A>T (p.Glu26682Val) c.80042A>T (p.Glu26681Val) c.79475A>T (p.Glu26492Val) c.76817A>T (p.Glu25606Val) c.76736A>T (p.Glu25579Val) c.58499A>T (p.Glu19500Val) c.48353A>T (p.Glu16118Val) | |
| 2 | g.178560528T>C | CA349552000 | TTN,TTN-AS1 | c.77900A>G (p.Glu25967Gly) c.58985A>G (p.Glu19662Gly) c.58784A>G (p.Glu19595Gly) c.58409A>G (p.Glu19470Gly) c.85604A>G (p.Glu28535Gly) c.80681A>G (p.Glu26894Gly) n.447-10772T>C n.2043+18167T>C c.84701A>G (p.Glu28234Gly) c.58595A>G (p.Glu19532Gly) c.58454A>G (p.Glu19485Gly) c.84497A>G (p.Glu28166Gly) c.79895A>G (p.Glu26632Gly) c.79892A>G (p.Glu26631Gly) c.76934A>G (p.Glu25645Gly) c.58550A>G (p.Glu19517Gly) c.80045A>G (p.Glu26682Gly) c.80042A>G (p.Glu26681Gly) c.79475A>G (p.Glu26492Gly) c.76817A>G (p.Glu25606Gly) c.76736A>G (p.Glu25579Gly) c.58499A>G (p.Glu19500Gly) c.48353A>G (p.Glu16118Gly) | |
| 2 | g.178560528T>G | CA349552003 | TTN,TTN-AS1 | c.77900A>C (p.Glu25967Ala) c.58985A>C (p.Glu19662Ala) c.58784A>C (p.Glu19595Ala) c.58409A>C (p.Glu19470Ala) c.85604A>C (p.Glu28535Ala) c.80681A>C (p.Glu26894Ala) n.447-10772T>G n.2043+18167T>G c.84701A>C (p.Glu28234Ala) c.58595A>C (p.Glu19532Ala) c.58454A>C (p.Glu19485Ala) c.84497A>C (p.Glu28166Ala) c.79895A>C (p.Glu26632Ala) c.79892A>C (p.Glu26631Ala) c.76934A>C (p.Glu25645Ala) c.58550A>C (p.Glu19517Ala) c.80045A>C (p.Glu26682Ala) c.80042A>C (p.Glu26681Ala) c.79475A>C (p.Glu26492Ala) c.76817A>C (p.Glu25606Ala) c.76736A>C (p.Glu25579Ala) c.58499A>C (p.Glu19500Ala) c.48353A>C (p.Glu16118Ala) | |
| 2 | g.178560528_178560534delinsTCACCAA | CA1310527069 | TTN,TTN-AS1 | c.77894_77900delinsTTGGTGA (p.Val25965=) c.58979_58985delinsTTGGTGA (p.Val19660=) c.58778_58784delinsTTGGTGA (p.Val19593=) c.58403_58409delinsTTGGTGA (p.Val19468=) c.85598_85604delinsTTGGTGA (p.Val28533=) c.80675_80681delinsTTGGTGA (p.Val26892=) n.447-10772_447-10766delinsTCACCAA n.2043+18167_2043+18173delinsTCACCAA c.84695_84701delinsTTGGTGA (p.Val28232=) c.58589_58595delinsTTGGTGA (p.Val19530=) c.58448_58454delinsTTGGTGA (p.Val19483=) c.84491_84497delinsTTGGTGA (p.Val28164=) c.79889_79895delinsTTGGTGA (p.Val26630=) c.79886_79892delinsTTGGTGA (p.Val26629=) c.76928_76934delinsTTGGTGA (p.Val25643=) c.58544_58550delinsTTGGTGA (p.Val19515=) c.80039_80045delinsTTGGTGA (p.Val26680=) c.80036_80042delinsTTGGTGA (p.Val26679=) c.79469_79475delinsTTGGTGA (p.Val26490=) c.76811_76817delinsTTGGTGA (p.Val25604=) c.76730_76736delinsTTGGTGA (p.Val25577=) c.58493_58499delinsTTGGTGA (p.Val19498=) c.48347_48353delinsTTGGTGA (p.Val16116=) | |
| 2 | g.178560529C>A | CA349552007 | TTN,TTN-AS1 | c.77899G>T (p.Glu25967Ter) c.58984G>T (p.Glu19662Ter) c.58783G>T (p.Glu19595Ter) c.58408G>T (p.Glu19470Ter) c.85603G>T (p.Glu28535Ter) c.80680G>T (p.Glu26894Ter) n.447-10771C>A n.2043+18168C>A c.84700G>T (p.Glu28234Ter) c.58594G>T (p.Glu19532Ter) c.58453G>T (p.Glu19485Ter) c.84496G>T (p.Glu28166Ter) c.79894G>T (p.Glu26632Ter) c.79891G>T (p.Glu26631Ter) c.76933G>T (p.Glu25645Ter) c.58549G>T (p.Glu19517Ter) c.80044G>T (p.Glu26682Ter) c.80041G>T (p.Glu26681Ter) c.79474G>T (p.Glu26492Ter) c.76816G>T (p.Glu25606Ter) c.76735G>T (p.Glu25579Ter) c.58498G>T (p.Glu19500Ter) c.48352G>T (p.Glu16118Ter) | |
| 2 | g.178560529C= | CA1310527070 | TTN,TTN-AS1 | c.77899G= (p.Glu25967=) c.58984G= (p.Glu19662=) c.58783G= (p.Glu19595=) c.58408G= (p.Glu19470=) c.85603G= (p.Glu28535=) c.80680G= (p.Glu26894=) n.447-10771C= n.2043+18168C= c.84700G= (p.Glu28234=) c.58594G= (p.Glu19532=) c.58453G= (p.Glu19485=) c.84496G= (p.Glu28166=) c.79894G= (p.Glu26632=) c.79891G= (p.Glu26631=) c.76933G= (p.Glu25645=) c.58549G= (p.Glu19517=) c.80044G= (p.Glu26682=) c.80041G= (p.Glu26681=) c.79474G= (p.Glu26492=) c.76816G= (p.Glu25606=) c.76735G= (p.Glu25579=) c.58498G= (p.Glu19500=) c.48352G= (p.Glu16118=) | |
| 2 | g.178560529C>G | CA349552014 | TTN,TTN-AS1 | c.77899G>C (p.Glu25967Gln) c.58984G>C (p.Glu19662Gln) c.58783G>C (p.Glu19595Gln) c.58408G>C (p.Glu19470Gln) c.85603G>C (p.Glu28535Gln) c.80680G>C (p.Glu26894Gln) n.447-10771C>G n.2043+18168C>G c.84700G>C (p.Glu28234Gln) c.58594G>C (p.Glu19532Gln) c.58453G>C (p.Glu19485Gln) c.84496G>C (p.Glu28166Gln) c.79894G>C (p.Glu26632Gln) c.79891G>C (p.Glu26631Gln) c.76933G>C (p.Glu25645Gln) c.58549G>C (p.Glu19517Gln) c.80044G>C (p.Glu26682Gln) c.80041G>C (p.Glu26681Gln) c.79474G>C (p.Glu26492Gln) c.76816G>C (p.Glu25606Gln) c.76735G>C (p.Glu25579Gln) c.58498G>C (p.Glu19500Gln) c.48352G>C (p.Glu16118Gln) | gnomAD v4 |
| 2 | g.178560529C>T | CA1988612 | TTN,TTN-AS1 | c.77899G>A (p.Glu25967Lys) c.58984G>A (p.Glu19662Lys) c.58783G>A (p.Glu19595Lys) c.58408G>A (p.Glu19470Lys) c.85603G>A (p.Glu28535Lys) c.80680G>A (p.Glu26894Lys) n.447-10771C>T n.2043+18168C>T c.84700G>A (p.Glu28234Lys) c.58594G>A (p.Glu19532Lys) c.58453G>A (p.Glu19485Lys) c.84496G>A (p.Glu28166Lys) c.79894G>A (p.Glu26632Lys) c.79891G>A (p.Glu26631Lys) c.76933G>A (p.Glu25645Lys) c.58549G>A (p.Glu19517Lys) c.80044G>A (p.Glu26682Lys) c.80041G>A (p.Glu26681Lys) c.79474G>A (p.Glu26492Lys) c.76816G>A (p.Glu25606Lys) c.76735G>A (p.Glu25579Lys) c.58498G>A (p.Glu19500Lys) c.48352G>A (p.Glu16118Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.178560534_178560539del | CA178463 | TTN,TTN-AS1 | c.77894_77899del (p.Val25965_Gly25966del) c.58979_58984del (p.Val19660_Gly19661del) c.58778_58783del (p.Val19593_Gly19594del) c.58403_58408del (p.Val19468_Gly19469del) c.85598_85603del (p.Val28533_Gly28534del) c.80675_80680del (p.Val26892_Gly26893del) n.447-10766_447-10761del n.2043+18173_2043+18178del c.84695_84700del (p.Val28232_Gly28233del) c.58589_58594del (p.Val19530_Gly19531del) c.58448_58453del (p.Val19483_Gly19484del) c.84491_84496del (p.Val28164_Gly28165del) c.79889_79894del (p.Val26630_Gly26631del) c.79886_79891del (p.Val26629_Gly26630del) c.76928_76933del (p.Val25643_Gly25644del) c.58544_58549del (p.Val19515_Gly19516del) c.80039_80044del (p.Val26680_Gly26681del) c.80036_80041del (p.Val26679_Gly26680del) c.79469_79474del (p.Val26490_Gly26491del) c.76811_76816del (p.Val25604_Gly25605del) c.76730_76735del (p.Val25577_Gly25578del) c.58493_58498del (p.Val19498_Gly19499del) c.48347_48352del (p.Val16116_Gly16117del) | ClinVar dbSNP |
| 2 | g.178560530A>C | CA430248638 | TTN,TTN-AS1 | c.77898T>G (p.Gly25966=) c.58983T>G (p.Gly19661=) c.58782T>G (p.Gly19594=) c.58407T>G (p.Gly19469=) c.85602T>G (p.Gly28534=) c.80679T>G (p.Gly26893=) n.447-10770A>C n.2043+18169A>C c.84699T>G (p.Gly28233=) c.58593T>G (p.Gly19531=) c.58452T>G (p.Gly19484=) c.84495T>G (p.Gly28165=) c.79893T>G (p.Gly26631=) c.79890T>G (p.Gly26630=) c.76932T>G (p.Gly25644=) c.58548T>G (p.Gly19516=) c.80043T>G (p.Gly26681=) c.80040T>G (p.Gly26680=) c.79473T>G (p.Gly26491=) c.76815T>G (p.Gly25605=) c.76734T>G (p.Gly25578=) c.58497T>G (p.Gly19499=) c.48351T>G (p.Gly16117=) | |
| 2 | g.178560530A>G | CA430248639 | TTN,TTN-AS1 | c.77898T>C (p.Gly25966=) c.58983T>C (p.Gly19661=) c.58782T>C (p.Gly19594=) c.58407T>C (p.Gly19469=) c.85602T>C (p.Gly28534=) c.80679T>C (p.Gly26893=) n.447-10770A>G n.2043+18169A>G c.84699T>C (p.Gly28233=) c.58593T>C (p.Gly19531=) c.58452T>C (p.Gly19484=) c.84495T>C (p.Gly28165=) c.79893T>C (p.Gly26631=) c.79890T>C (p.Gly26630=) c.76932T>C (p.Gly25644=) c.58548T>C (p.Gly19516=) c.80043T>C (p.Gly26681=) c.80040T>C (p.Gly26680=) c.79473T>C (p.Gly26491=) c.76815T>C (p.Gly25605=) c.76734T>C (p.Gly25578=) c.58497T>C (p.Gly19499=) c.48351T>C (p.Gly16117=) |