Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.178602339C>A | CA349545247 | TTN,TTN-AS1 | c.47359G>T (p.Ala15787Ser) c.28444G>T (p.Ala9482Ser) c.28243G>T (p.Ala9415Ser) c.27868G>T (p.Ala9290Ser) c.55063G>T (p.Ala18355Ser) c.50140G>T (p.Ala16714Ser) n.682+4658C>A n.3917+1672C>A c.54160G>T (p.Ala18054Ser) c.28054G>T (p.Ala9352Ser) c.27913G>T (p.Ala9305Ser) c.53956G>T (p.Ala17986Ser) c.49354G>T (p.Ala16452Ser) c.49351G>T (p.Ala16451Ser) c.46393G>T (p.Ala15465Ser) c.28009G>T (p.Ala9337Ser) c.49504G>T (p.Ala16502Ser) c.49501G>T (p.Ala16501Ser) c.48934G>T (p.Ala16312Ser) c.46276G>T (p.Ala15426Ser) c.46195G>T (p.Ala15399Ser) c.27958G>T (p.Ala9320Ser) c.17812G>T (p.Ala5938Ser) | |
2 | g.178602339C= | CA1310544482 | TTN,TTN-AS1 | c.47359G= (p.Ala15787=) c.28444G= (p.Ala9482=) c.28243G= (p.Ala9415=) c.27868G= (p.Ala9290=) c.55063G= (p.Ala18355=) c.50140G= (p.Ala16714=) n.682+4658C= n.3917+1672C= c.54160G= (p.Ala18054=) c.28054G= (p.Ala9352=) c.27913G= (p.Ala9305=) c.53956G= (p.Ala17986=) c.49354G= (p.Ala16452=) c.49351G= (p.Ala16451=) c.46393G= (p.Ala15465=) c.28009G= (p.Ala9337=) c.49504G= (p.Ala16502=) c.49501G= (p.Ala16501=) c.48934G= (p.Ala16312=) c.46276G= (p.Ala15426=) c.46195G= (p.Ala15399=) c.27958G= (p.Ala9320=) c.17812G= (p.Ala5938=) | |
2 | g.178602339C>G | CA349545250 | TTN,TTN-AS1 | c.47359G>C (p.Ala15787Pro) c.28444G>C (p.Ala9482Pro) c.28243G>C (p.Ala9415Pro) c.27868G>C (p.Ala9290Pro) c.55063G>C (p.Ala18355Pro) c.50140G>C (p.Ala16714Pro) n.682+4658C>G n.3917+1672C>G c.54160G>C (p.Ala18054Pro) c.28054G>C (p.Ala9352Pro) c.27913G>C (p.Ala9305Pro) c.53956G>C (p.Ala17986Pro) c.49354G>C (p.Ala16452Pro) c.49351G>C (p.Ala16451Pro) c.46393G>C (p.Ala15465Pro) c.28009G>C (p.Ala9337Pro) c.49504G>C (p.Ala16502Pro) c.49501G>C (p.Ala16501Pro) c.48934G>C (p.Ala16312Pro) c.46276G>C (p.Ala15426Pro) c.46195G>C (p.Ala15399Pro) c.27958G>C (p.Ala9320Pro) c.17812G>C (p.Ala5938Pro) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.178602339C>T | CA349545255 | TTN,TTN-AS1 | c.47359G>A (p.Ala15787Thr) c.28444G>A (p.Ala9482Thr) c.28243G>A (p.Ala9415Thr) c.27868G>A (p.Ala9290Thr) c.55063G>A (p.Ala18355Thr) c.50140G>A (p.Ala16714Thr) n.682+4658C>T n.3917+1672C>T c.54160G>A (p.Ala18054Thr) c.28054G>A (p.Ala9352Thr) c.27913G>A (p.Ala9305Thr) c.53956G>A (p.Ala17986Thr) c.49354G>A (p.Ala16452Thr) c.49351G>A (p.Ala16451Thr) c.46393G>A (p.Ala15465Thr) c.28009G>A (p.Ala9337Thr) c.49504G>A (p.Ala16502Thr) c.49501G>A (p.Ala16501Thr) c.48934G>A (p.Ala16312Thr) c.46276G>A (p.Ala15426Thr) c.46195G>A (p.Ala15399Thr) c.27958G>A (p.Ala9320Thr) c.17812G>A (p.Ala5938Thr) | |
2 | g.178602340T>A | CA349545261 | TTN,TTN-AS1 | c.47358A>T (p.Glu15786Asp) c.28443A>T (p.Glu9481Asp) c.28242A>T (p.Glu9414Asp) c.27867A>T (p.Glu9289Asp) c.55062A>T (p.Glu18354Asp) c.50139A>T (p.Glu16713Asp) n.682+4659T>A n.3917+1673T>A c.54159A>T (p.Glu18053Asp) c.28053A>T (p.Glu9351Asp) c.27912A>T (p.Glu9304Asp) c.53955A>T (p.Glu17985Asp) c.49353A>T (p.Glu16451Asp) c.49350A>T (p.Glu16450Asp) c.46392A>T (p.Glu15464Asp) c.28008A>T (p.Glu9336Asp) c.49503A>T (p.Glu16501Asp) c.49500A>T (p.Glu16500Asp) c.48933A>T (p.Glu16311Asp) c.46275A>T (p.Glu15425Asp) c.46194A>T (p.Glu15398Asp) c.27957A>T (p.Glu9319Asp) c.17811A>T (p.Glu5937Asp) | |
2 | g.178602340T>C | CA430269347 | TTN,TTN-AS1 | c.47358A>G (p.Glu15786=) c.28443A>G (p.Glu9481=) c.28242A>G (p.Glu9414=) c.27867A>G (p.Glu9289=) c.55062A>G (p.Glu18354=) c.50139A>G (p.Glu16713=) n.682+4659T>C n.3917+1673T>C c.54159A>G (p.Glu18053=) c.28053A>G (p.Glu9351=) c.27912A>G (p.Glu9304=) c.53955A>G (p.Glu17985=) c.49353A>G (p.Glu16451=) c.49350A>G (p.Glu16450=) c.46392A>G (p.Glu15464=) c.28008A>G (p.Glu9336=) c.49503A>G (p.Glu16501=) c.49500A>G (p.Glu16500=) c.48933A>G (p.Glu16311=) c.46275A>G (p.Glu15425=) c.46194A>G (p.Glu15398=) c.27957A>G (p.Glu9319=) c.17811A>G (p.Glu5937=) | ClinVar dbSNP |
2 | g.178602340T>G | CA349545265 | TTN,TTN-AS1 | c.47358A>C (p.Glu15786Asp) c.28443A>C (p.Glu9481Asp) c.28242A>C (p.Glu9414Asp) c.27867A>C (p.Glu9289Asp) c.55062A>C (p.Glu18354Asp) c.50139A>C (p.Glu16713Asp) n.682+4659T>G n.3917+1673T>G c.54159A>C (p.Glu18053Asp) c.28053A>C (p.Glu9351Asp) c.27912A>C (p.Glu9304Asp) c.53955A>C (p.Glu17985Asp) c.49353A>C (p.Glu16451Asp) c.49350A>C (p.Glu16450Asp) c.46392A>C (p.Glu15464Asp) c.28008A>C (p.Glu9336Asp) c.49503A>C (p.Glu16501Asp) c.49500A>C (p.Glu16500Asp) c.48933A>C (p.Glu16311Asp) c.46275A>C (p.Glu15425Asp) c.46194A>C (p.Glu15398Asp) c.27957A>C (p.Glu9319Asp) c.17811A>C (p.Glu5937Asp) | |
2 | g.178602341T>A | CA349545270 | TTN,TTN-AS1 | c.47357A>T (p.Glu15786Val) c.28442A>T (p.Glu9481Val) c.28241A>T (p.Glu9414Val) c.27866A>T (p.Glu9289Val) c.55061A>T (p.Glu18354Val) c.50138A>T (p.Glu16713Val) n.682+4660T>A n.3917+1674T>A c.54158A>T (p.Glu18053Val) c.28052A>T (p.Glu9351Val) c.27911A>T (p.Glu9304Val) c.53954A>T (p.Glu17985Val) c.49352A>T (p.Glu16451Val) c.49349A>T (p.Glu16450Val) c.46391A>T (p.Glu15464Val) c.28007A>T (p.Glu9336Val) c.49502A>T (p.Glu16501Val) c.49499A>T (p.Glu16500Val) c.48932A>T (p.Glu16311Val) c.46274A>T (p.Glu15425Val) c.46193A>T (p.Glu15398Val) c.27956A>T (p.Glu9319Val) c.17810A>T (p.Glu5937Val) | |
2 | g.178602341T>C | CA349545272 | TTN,TTN-AS1 | c.47357A>G (p.Glu15786Gly) c.28442A>G (p.Glu9481Gly) c.28241A>G (p.Glu9414Gly) c.27866A>G (p.Glu9289Gly) c.55061A>G (p.Glu18354Gly) c.50138A>G (p.Glu16713Gly) n.682+4660T>C n.3917+1674T>C c.54158A>G (p.Glu18053Gly) c.28052A>G (p.Glu9351Gly) c.27911A>G (p.Glu9304Gly) c.53954A>G (p.Glu17985Gly) c.49352A>G (p.Glu16451Gly) c.49349A>G (p.Glu16450Gly) c.46391A>G (p.Glu15464Gly) c.28007A>G (p.Glu9336Gly) c.49502A>G (p.Glu16501Gly) c.49499A>G (p.Glu16500Gly) c.48932A>G (p.Glu16311Gly) c.46274A>G (p.Glu15425Gly) c.46193A>G (p.Glu15398Gly) c.27956A>G (p.Glu9319Gly) c.17810A>G (p.Glu5937Gly) | gnomAD v4 |
2 | g.178602341T>G | CA349545271 | TTN,TTN-AS1 | c.47357A>C (p.Glu15786Ala) c.28442A>C (p.Glu9481Ala) c.28241A>C (p.Glu9414Ala) c.27866A>C (p.Glu9289Ala) c.55061A>C (p.Glu18354Ala) c.50138A>C (p.Glu16713Ala) n.682+4660T>G n.3917+1674T>G c.54158A>C (p.Glu18053Ala) c.28052A>C (p.Glu9351Ala) c.27911A>C (p.Glu9304Ala) c.53954A>C (p.Glu17985Ala) c.49352A>C (p.Glu16451Ala) c.49349A>C (p.Glu16450Ala) c.46391A>C (p.Glu15464Ala) c.28007A>C (p.Glu9336Ala) c.49502A>C (p.Glu16501Ala) c.49499A>C (p.Glu16500Ala) c.48932A>C (p.Glu16311Ala) c.46274A>C (p.Glu15425Ala) c.46193A>C (p.Glu15398Ala) c.27956A>C (p.Glu9319Ala) c.17810A>C (p.Glu5937Ala) | |
2 | g.178602342C>A | CA349545276 | TTN,TTN-AS1 | c.47356G>T (p.Glu15786Ter) c.28441G>T (p.Glu9481Ter) c.28240G>T (p.Glu9414Ter) c.27865G>T (p.Glu9289Ter) c.55060G>T (p.Glu18354Ter) c.50137G>T (p.Glu16713Ter) n.682+4661C>A n.3917+1675C>A c.54157G>T (p.Glu18053Ter) c.28051G>T (p.Glu9351Ter) c.27910G>T (p.Glu9304Ter) c.53953G>T (p.Glu17985Ter) c.49351G>T (p.Glu16451Ter) c.49348G>T (p.Glu16450Ter) c.46390G>T (p.Glu15464Ter) c.28006G>T (p.Glu9336Ter) c.49501G>T (p.Glu16501Ter) c.49498G>T (p.Glu16500Ter) c.48931G>T (p.Glu16311Ter) c.46273G>T (p.Glu15425Ter) c.46192G>T (p.Glu15398Ter) c.27955G>T (p.Glu9319Ter) c.17809G>T (p.Glu5937Ter) | |
2 | g.178602342C= | CA1310544483 | TTN,TTN-AS1 | c.47356G= (p.Glu15786=) c.28441G= (p.Glu9481=) c.28240G= (p.Glu9414=) c.27865G= (p.Glu9289=) c.55060G= (p.Glu18354=) c.50137G= (p.Glu16713=) n.682+4661C= n.3917+1675C= c.54157G= (p.Glu18053=) c.28051G= (p.Glu9351=) c.27910G= (p.Glu9304=) c.53953G= (p.Glu17985=) c.49351G= (p.Glu16451=) c.49348G= (p.Glu16450=) c.46390G= (p.Glu15464=) c.28006G= (p.Glu9336=) c.49501G= (p.Glu16501=) c.49498G= (p.Glu16500=) c.48931G= (p.Glu16311=) c.46273G= (p.Glu15425=) c.46192G= (p.Glu15398=) c.27955G= (p.Glu9319=) c.17809G= (p.Glu5937=) | |
2 | g.178602342C>G | CA349545283 | TTN,TTN-AS1 | c.47356G>C (p.Glu15786Gln) c.28441G>C (p.Glu9481Gln) c.28240G>C (p.Glu9414Gln) c.27865G>C (p.Glu9289Gln) c.55060G>C (p.Glu18354Gln) c.50137G>C (p.Glu16713Gln) n.682+4661C>G n.3917+1675C>G c.54157G>C (p.Glu18053Gln) c.28051G>C (p.Glu9351Gln) c.27910G>C (p.Glu9304Gln) c.53953G>C (p.Glu17985Gln) c.49351G>C (p.Glu16451Gln) c.49348G>C (p.Glu16450Gln) c.46390G>C (p.Glu15464Gln) c.28006G>C (p.Glu9336Gln) c.49501G>C (p.Glu16501Gln) c.49498G>C (p.Glu16500Gln) c.48931G>C (p.Glu16311Gln) c.46273G>C (p.Glu15425Gln) c.46192G>C (p.Glu15398Gln) c.27955G>C (p.Glu9319Gln) c.17809G>C (p.Glu5937Gln) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.178602342C>T | CA349545292 | TTN,TTN-AS1 | c.47356G>A (p.Glu15786Lys) c.28441G>A (p.Glu9481Lys) c.28240G>A (p.Glu9414Lys) c.27865G>A (p.Glu9289Lys) c.55060G>A (p.Glu18354Lys) c.50137G>A (p.Glu16713Lys) n.682+4661C>T n.3917+1675C>T c.54157G>A (p.Glu18053Lys) c.28051G>A (p.Glu9351Lys) c.27910G>A (p.Glu9304Lys) c.53953G>A (p.Glu17985Lys) c.49351G>A (p.Glu16451Lys) c.49348G>A (p.Glu16450Lys) c.46390G>A (p.Glu15464Lys) c.28006G>A (p.Glu9336Lys) c.49501G>A (p.Glu16501Lys) c.49498G>A (p.Glu16500Lys) c.48931G>A (p.Glu16311Lys) c.46273G>A (p.Glu15425Lys) c.46192G>A (p.Glu15398Lys) c.27955G>A (p.Glu9319Lys) c.17809G>A (p.Glu5937Lys) | ClinVar dbSNP |
2 | g.178602343A= | CA1310544484 | TTN,TTN-AS1 | c.47355T= (p.Asn15785=) c.28440T= (p.Asn9480=) c.28239T= (p.Asn9413=) c.27864T= (p.Asn9288=) c.55059T= (p.Asn18353=) c.50136T= (p.Asn16712=) n.682+4662A= n.3917+1676A= c.54156T= (p.Asn18052=) c.28050T= (p.Asn9350=) c.27909T= (p.Asn9303=) c.53952T= (p.Asn17984=) c.49350T= (p.Asn16450=) c.49347T= (p.Asn16449=) c.46389T= (p.Asn15463=) c.28005T= (p.Asn9335=) c.49500T= (p.Asn16500=) c.49497T= (p.Asn16499=) c.48930T= (p.Asn16310=) c.46272T= (p.Asn15424=) c.46191T= (p.Asn15397=) c.27954T= (p.Asn9318=) c.17808T= (p.Asn5936=) | |
2 | g.178602343A>C | CA349545296 | TTN,TTN-AS1 | c.47355T>G (p.Asn15785Lys) c.28440T>G (p.Asn9480Lys) c.28239T>G (p.Asn9413Lys) c.27864T>G (p.Asn9288Lys) c.55059T>G (p.Asn18353Lys) c.50136T>G (p.Asn16712Lys) n.682+4662A>C n.3917+1676A>C c.54156T>G (p.Asn18052Lys) c.28050T>G (p.Asn9350Lys) c.27909T>G (p.Asn9303Lys) c.53952T>G (p.Asn17984Lys) c.49350T>G (p.Asn16450Lys) c.49347T>G (p.Asn16449Lys) c.46389T>G (p.Asn15463Lys) c.28005T>G (p.Asn9335Lys) c.49500T>G (p.Asn16500Lys) c.49497T>G (p.Asn16499Lys) c.48930T>G (p.Asn16310Lys) c.46272T>G (p.Asn15424Lys) c.46191T>G (p.Asn15397Lys) c.27954T>G (p.Asn9318Lys) c.17808T>G (p.Asn5936Lys) | |
2 | g.178602343A>G | CA1993540 | TTN,TTN-AS1 | c.47355T>C (p.Asn15785=) c.28440T>C (p.Asn9480=) c.28239T>C (p.Asn9413=) c.27864T>C (p.Asn9288=) c.55059T>C (p.Asn18353=) c.50136T>C (p.Asn16712=) n.682+4662A>G n.3917+1676A>G c.54156T>C (p.Asn18052=) c.28050T>C (p.Asn9350=) c.27909T>C (p.Asn9303=) c.53952T>C (p.Asn17984=) c.49350T>C (p.Asn16450=) c.49347T>C (p.Asn16449=) c.46389T>C (p.Asn15463=) c.28005T>C (p.Asn9335=) c.49500T>C (p.Asn16500=) c.49497T>C (p.Asn16499=) c.48930T>C (p.Asn16310=) c.46272T>C (p.Asn15424=) c.46191T>C (p.Asn15397=) c.27954T>C (p.Asn9318=) c.17808T>C (p.Asn5936=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178602343A>T | CA349545305 | TTN,TTN-AS1 | c.47355T>A (p.Asn15785Lys) c.28440T>A (p.Asn9480Lys) c.28239T>A (p.Asn9413Lys) c.27864T>A (p.Asn9288Lys) c.55059T>A (p.Asn18353Lys) c.50136T>A (p.Asn16712Lys) n.682+4662A>T n.3917+1676A>T c.54156T>A (p.Asn18052Lys) c.28050T>A (p.Asn9350Lys) c.27909T>A (p.Asn9303Lys) c.53952T>A (p.Asn17984Lys) c.49350T>A (p.Asn16450Lys) c.49347T>A (p.Asn16449Lys) c.46389T>A (p.Asn15463Lys) c.28005T>A (p.Asn9335Lys) c.49500T>A (p.Asn16500Lys) c.49497T>A (p.Asn16499Lys) c.48930T>A (p.Asn16310Lys) c.46272T>A (p.Asn15424Lys) c.46191T>A (p.Asn15397Lys) c.27954T>A (p.Asn9318Lys) c.17808T>A (p.Asn5936Lys) | |
2 | g.178602344T>A | CA349545313 | TTN,TTN-AS1 | c.47354A>T (p.Asn15785Ile) c.28439A>T (p.Asn9480Ile) c.28238A>T (p.Asn9413Ile) c.27863A>T (p.Asn9288Ile) c.55058A>T (p.Asn18353Ile) c.50135A>T (p.Asn16712Ile) n.682+4663T>A n.3917+1677T>A c.54155A>T (p.Asn18052Ile) c.28049A>T (p.Asn9350Ile) c.27908A>T (p.Asn9303Ile) c.53951A>T (p.Asn17984Ile) c.49349A>T (p.Asn16450Ile) c.49346A>T (p.Asn16449Ile) c.46388A>T (p.Asn15463Ile) c.28004A>T (p.Asn9335Ile) c.49499A>T (p.Asn16500Ile) c.49496A>T (p.Asn16499Ile) c.48929A>T (p.Asn16310Ile) c.46271A>T (p.Asn15424Ile) c.46190A>T (p.Asn15397Ile) c.27953A>T (p.Asn9318Ile) c.17807A>T (p.Asn5936Ile) | |
2 | g.178602344T>C | CA1993541 | TTN,TTN-AS1 | c.47354A>G (p.Asn15785Ser) c.28439A>G (p.Asn9480Ser) c.28238A>G (p.Asn9413Ser) c.27863A>G (p.Asn9288Ser) c.55058A>G (p.Asn18353Ser) c.50135A>G (p.Asn16712Ser) n.682+4663T>C n.3917+1677T>C c.54155A>G (p.Asn18052Ser) c.28049A>G (p.Asn9350Ser) c.27908A>G (p.Asn9303Ser) c.53951A>G (p.Asn17984Ser) c.49349A>G (p.Asn16450Ser) c.49346A>G (p.Asn16449Ser) c.46388A>G (p.Asn15463Ser) c.28004A>G (p.Asn9335Ser) c.49499A>G (p.Asn16500Ser) c.49496A>G (p.Asn16499Ser) c.48929A>G (p.Asn16310Ser) c.46271A>G (p.Asn15424Ser) c.46190A>G (p.Asn15397Ser) c.27953A>G (p.Asn9318Ser) c.17807A>G (p.Asn5936Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178602344T>G | CA349545318 | TTN,TTN-AS1 | c.47354A>C (p.Asn15785Thr) c.28439A>C (p.Asn9480Thr) c.28238A>C (p.Asn9413Thr) c.27863A>C (p.Asn9288Thr) c.55058A>C (p.Asn18353Thr) c.50135A>C (p.Asn16712Thr) n.682+4663T>G n.3917+1677T>G c.54155A>C (p.Asn18052Thr) c.28049A>C (p.Asn9350Thr) c.27908A>C (p.Asn9303Thr) c.53951A>C (p.Asn17984Thr) c.49349A>C (p.Asn16450Thr) c.49346A>C (p.Asn16449Thr) c.46388A>C (p.Asn15463Thr) c.28004A>C (p.Asn9335Thr) c.49499A>C (p.Asn16500Thr) c.49496A>C (p.Asn16499Thr) c.48929A>C (p.Asn16310Thr) c.46271A>C (p.Asn15424Thr) c.46190A>C (p.Asn15397Thr) c.27953A>C (p.Asn9318Thr) c.17807A>C (p.Asn5936Thr) | |
2 | g.178602344T= | CA1310544485 | TTN,TTN-AS1 | c.47354A= (p.Asn15785=) c.28439A= (p.Asn9480=) c.28238A= (p.Asn9413=) c.27863A= (p.Asn9288=) c.55058A= (p.Asn18353=) c.50135A= (p.Asn16712=) n.682+4663T= n.3917+1677T= c.54155A= (p.Asn18052=) c.28049A= (p.Asn9350=) c.27908A= (p.Asn9303=) c.53951A= (p.Asn17984=) c.49349A= (p.Asn16450=) c.49346A= (p.Asn16449=) c.46388A= (p.Asn15463=) c.28004A= (p.Asn9335=) c.49499A= (p.Asn16500=) c.49496A= (p.Asn16499=) c.48929A= (p.Asn16310=) c.46271A= (p.Asn15424=) c.46190A= (p.Asn15397=) c.27953A= (p.Asn9318=) c.17807A= (p.Asn5936=) | |
2 | g.178602345T>A | CA349545323 | TTN,TTN-AS1 | c.47353A>T (p.Asn15785Tyr) c.28438A>T (p.Asn9480Tyr) c.28237A>T (p.Asn9413Tyr) c.27862A>T (p.Asn9288Tyr) c.55057A>T (p.Asn18353Tyr) c.50134A>T (p.Asn16712Tyr) n.682+4664T>A n.3917+1678T>A c.54154A>T (p.Asn18052Tyr) c.28048A>T (p.Asn9350Tyr) c.27907A>T (p.Asn9303Tyr) c.53950A>T (p.Asn17984Tyr) c.49348A>T (p.Asn16450Tyr) c.49345A>T (p.Asn16449Tyr) c.46387A>T (p.Asn15463Tyr) c.28003A>T (p.Asn9335Tyr) c.49498A>T (p.Asn16500Tyr) c.49495A>T (p.Asn16499Tyr) c.48928A>T (p.Asn16310Tyr) c.46270A>T (p.Asn15424Tyr) c.46189A>T (p.Asn15397Tyr) c.27952A>T (p.Asn9318Tyr) c.17806A>T (p.Asn5936Tyr) | |
2 | g.178602345T>C | CA349545326 | TTN,TTN-AS1 | c.47353A>G (p.Asn15785Asp) c.28438A>G (p.Asn9480Asp) c.28237A>G (p.Asn9413Asp) c.27862A>G (p.Asn9288Asp) c.55057A>G (p.Asn18353Asp) c.50134A>G (p.Asn16712Asp) n.682+4664T>C n.3917+1678T>C c.54154A>G (p.Asn18052Asp) c.28048A>G (p.Asn9350Asp) c.27907A>G (p.Asn9303Asp) c.53950A>G (p.Asn17984Asp) c.49348A>G (p.Asn16450Asp) c.49345A>G (p.Asn16449Asp) c.46387A>G (p.Asn15463Asp) c.28003A>G (p.Asn9335Asp) c.49498A>G (p.Asn16500Asp) c.49495A>G (p.Asn16499Asp) c.48928A>G (p.Asn16310Asp) c.46270A>G (p.Asn15424Asp) c.46189A>G (p.Asn15397Asp) c.27952A>G (p.Asn9318Asp) c.17806A>G (p.Asn5936Asp) | |
2 | g.178602345T>G | CA349545328 | TTN,TTN-AS1 | c.47353A>C (p.Asn15785His) c.28438A>C (p.Asn9480His) c.28237A>C (p.Asn9413His) c.27862A>C (p.Asn9288His) c.55057A>C (p.Asn18353His) c.50134A>C (p.Asn16712His) n.682+4664T>G n.3917+1678T>G c.54154A>C (p.Asn18052His) c.28048A>C (p.Asn9350His) c.27907A>C (p.Asn9303His) c.53950A>C (p.Asn17984His) c.49348A>C (p.Asn16450His) c.49345A>C (p.Asn16449His) c.46387A>C (p.Asn15463His) c.28003A>C (p.Asn9335His) c.49498A>C (p.Asn16500His) c.49495A>C (p.Asn16499His) c.48928A>C (p.Asn16310His) c.46270A>C (p.Asn15424His) c.46189A>C (p.Asn15397His) c.27952A>C (p.Asn9318His) c.17806A>C (p.Asn5936His) | gnomAD v4 |
2 | g.178602346G>A | CA430269356 | TTN,TTN-AS1 | c.47352C>T (p.Val15784=) c.28437C>T (p.Val9479=) c.28236C>T (p.Val9412=) c.27861C>T (p.Val9287=) c.55056C>T (p.Val18352=) c.50133C>T (p.Val16711=) n.682+4665G>A n.3917+1679G>A c.54153C>T (p.Val18051=) c.28047C>T (p.Val9349=) c.27906C>T (p.Val9302=) c.53949C>T (p.Val17983=) c.49347C>T (p.Val16449=) c.49344C>T (p.Val16448=) c.46386C>T (p.Val15462=) c.28002C>T (p.Val9334=) c.49497C>T (p.Val16499=) c.49494C>T (p.Val16498=) c.48927C>T (p.Val16309=) c.46269C>T (p.Val15423=) c.46188C>T (p.Val15396=) c.27951C>T (p.Val9317=) c.17805C>T (p.Val5935=) | gnomAD v4 |
2 | g.178602346G>C | CA430269358 | TTN,TTN-AS1 | c.47352C>G (p.Val15784=) c.28437C>G (p.Val9479=) c.28236C>G (p.Val9412=) c.27861C>G (p.Val9287=) c.55056C>G (p.Val18352=) c.50133C>G (p.Val16711=) n.682+4665G>C n.3917+1679G>C c.54153C>G (p.Val18051=) c.28047C>G (p.Val9349=) c.27906C>G (p.Val9302=) c.53949C>G (p.Val17983=) c.49347C>G (p.Val16449=) c.49344C>G (p.Val16448=) c.46386C>G (p.Val15462=) c.28002C>G (p.Val9334=) c.49497C>G (p.Val16499=) c.49494C>G (p.Val16498=) c.48927C>G (p.Val16309=) c.46269C>G (p.Val15423=) c.46188C>G (p.Val15396=) c.27951C>G (p.Val9317=) c.17805C>G (p.Val5935=) | gnomAD v4 |
2 | g.178602346G>T | CA430269360 | TTN,TTN-AS1 | c.47352C>A (p.Val15784=) c.28437C>A (p.Val9479=) c.28236C>A (p.Val9412=) c.27861C>A (p.Val9287=) c.55056C>A (p.Val18352=) c.50133C>A (p.Val16711=) n.682+4665G>T n.3917+1679G>T c.54153C>A (p.Val18051=) c.28047C>A (p.Val9349=) c.27906C>A (p.Val9302=) c.53949C>A (p.Val17983=) c.49347C>A (p.Val16449=) c.49344C>A (p.Val16448=) c.46386C>A (p.Val15462=) c.28002C>A (p.Val9334=) c.49497C>A (p.Val16499=) c.49494C>A (p.Val16498=) c.48927C>A (p.Val16309=) c.46269C>A (p.Val15423=) c.46188C>A (p.Val15396=) c.27951C>A (p.Val9317=) c.17805C>A (p.Val5935=) | |
2 | g.178602347A>C | CA349545343 | TTN,TTN-AS1 | c.47351T>G (p.Val15784Gly) c.28436T>G (p.Val9479Gly) c.28235T>G (p.Val9412Gly) c.27860T>G (p.Val9287Gly) c.55055T>G (p.Val18352Gly) c.50132T>G (p.Val16711Gly) n.682+4666A>C n.3917+1680A>C c.54152T>G (p.Val18051Gly) c.28046T>G (p.Val9349Gly) c.27905T>G (p.Val9302Gly) c.53948T>G (p.Val17983Gly) c.49346T>G (p.Val16449Gly) c.49343T>G (p.Val16448Gly) c.46385T>G (p.Val15462Gly) c.28001T>G (p.Val9334Gly) c.49496T>G (p.Val16499Gly) c.49493T>G (p.Val16498Gly) c.48926T>G (p.Val16309Gly) c.46268T>G (p.Val15423Gly) c.46187T>G (p.Val15396Gly) c.27950T>G (p.Val9317Gly) c.17804T>G (p.Val5935Gly) | |
2 | g.178602347A>G | CA349545346 | TTN,TTN-AS1 | c.47351T>C (p.Val15784Ala) c.28436T>C (p.Val9479Ala) c.28235T>C (p.Val9412Ala) c.27860T>C (p.Val9287Ala) c.55055T>C (p.Val18352Ala) c.50132T>C (p.Val16711Ala) n.682+4666A>G n.3917+1680A>G c.54152T>C (p.Val18051Ala) c.28046T>C (p.Val9349Ala) c.27905T>C (p.Val9302Ala) c.53948T>C (p.Val17983Ala) c.49346T>C (p.Val16449Ala) c.49343T>C (p.Val16448Ala) c.46385T>C (p.Val15462Ala) c.28001T>C (p.Val9334Ala) c.49496T>C (p.Val16499Ala) c.49493T>C (p.Val16498Ala) c.48926T>C (p.Val16309Ala) c.46268T>C (p.Val15423Ala) c.46187T>C (p.Val15396Ala) c.27950T>C (p.Val9317Ala) c.17804T>C (p.Val5935Ala) | |
2 | g.178602347A>T | CA349545339 | TTN,TTN-AS1 | c.47351T>A (p.Val15784Asp) c.28436T>A (p.Val9479Asp) c.28235T>A (p.Val9412Asp) c.27860T>A (p.Val9287Asp) c.55055T>A (p.Val18352Asp) c.50132T>A (p.Val16711Asp) n.682+4666A>T n.3917+1680A>T c.54152T>A (p.Val18051Asp) c.28046T>A (p.Val9349Asp) c.27905T>A (p.Val9302Asp) c.53948T>A (p.Val17983Asp) c.49346T>A (p.Val16449Asp) c.49343T>A (p.Val16448Asp) c.46385T>A (p.Val15462Asp) c.28001T>A (p.Val9334Asp) c.49496T>A (p.Val16499Asp) c.49493T>A (p.Val16498Asp) c.48926T>A (p.Val16309Asp) c.46268T>A (p.Val15423Asp) c.46187T>A (p.Val15396Asp) c.27950T>A (p.Val9317Asp) c.17804T>A (p.Val5935Asp) | |
2 | g.178602348C>A | CA349545351 | TTN,TTN-AS1 | c.47350G>T (p.Val15784Phe) c.28435G>T (p.Val9479Phe) c.28234G>T (p.Val9412Phe) c.27859G>T (p.Val9287Phe) c.55054G>T (p.Val18352Phe) c.50131G>T (p.Val16711Phe) n.682+4667C>A n.3917+1681C>A c.54151G>T (p.Val18051Phe) c.28045G>T (p.Val9349Phe) c.27904G>T (p.Val9302Phe) c.53947G>T (p.Val17983Phe) c.49345G>T (p.Val16449Phe) c.49342G>T (p.Val16448Phe) c.46384G>T (p.Val15462Phe) c.28000G>T (p.Val9334Phe) c.49495G>T (p.Val16499Phe) c.49492G>T (p.Val16498Phe) c.48925G>T (p.Val16309Phe) c.46267G>T (p.Val15423Phe) c.46186G>T (p.Val15396Phe) c.27949G>T (p.Val9317Phe) c.17803G>T (p.Val5935Phe) | |
2 | g.178602348C= | CA1310544486 | TTN,TTN-AS1 | c.47350G= (p.Val15784=) c.28435G= (p.Val9479=) c.28234G= (p.Val9412=) c.27859G= (p.Val9287=) c.55054G= (p.Val18352=) c.50131G= (p.Val16711=) n.682+4667C= n.3917+1681C= c.54151G= (p.Val18051=) c.28045G= (p.Val9349=) c.27904G= (p.Val9302=) c.53947G= (p.Val17983=) c.49345G= (p.Val16449=) c.49342G= (p.Val16448=) c.46384G= (p.Val15462=) c.28000G= (p.Val9334=) c.49495G= (p.Val16499=) c.49492G= (p.Val16498=) c.48925G= (p.Val16309=) c.46267G= (p.Val15423=) c.46186G= (p.Val15396=) c.27949G= (p.Val9317=) c.17803G= (p.Val5935=) | |
2 | g.178602348C>G | CA349545377 | TTN,TTN-AS1 | c.47350G>C (p.Val15784Leu) c.28435G>C (p.Val9479Leu) c.28234G>C (p.Val9412Leu) c.27859G>C (p.Val9287Leu) c.55054G>C (p.Val18352Leu) c.50131G>C (p.Val16711Leu) n.682+4667C>G n.3917+1681C>G c.54151G>C (p.Val18051Leu) c.28045G>C (p.Val9349Leu) c.27904G>C (p.Val9302Leu) c.53947G>C (p.Val17983Leu) c.49345G>C (p.Val16449Leu) c.49342G>C (p.Val16448Leu) c.46384G>C (p.Val15462Leu) c.28000G>C (p.Val9334Leu) c.49495G>C (p.Val16499Leu) c.49492G>C (p.Val16498Leu) c.48925G>C (p.Val16309Leu) c.46267G>C (p.Val15423Leu) c.46186G>C (p.Val15396Leu) c.27949G>C (p.Val9317Leu) c.17803G>C (p.Val5935Leu) | |
2 | g.178602348C>T | CA1993542 | TTN,TTN-AS1 | c.47350G>A (p.Val15784Ile) c.28435G>A (p.Val9479Ile) c.28234G>A (p.Val9412Ile) c.27859G>A (p.Val9287Ile) c.55054G>A (p.Val18352Ile) c.50131G>A (p.Val16711Ile) n.682+4667C>T n.3917+1681C>T c.54151G>A (p.Val18051Ile) c.28045G>A (p.Val9349Ile) c.27904G>A (p.Val9302Ile) c.53947G>A (p.Val17983Ile) c.49345G>A (p.Val16449Ile) c.49342G>A (p.Val16448Ile) c.46384G>A (p.Val15462Ile) c.28000G>A (p.Val9334Ile) c.49495G>A (p.Val16499Ile) c.49492G>A (p.Val16498Ile) c.48925G>A (p.Val16309Ile) c.46267G>A (p.Val15423Ile) c.46186G>A (p.Val15396Ile) c.27949G>A (p.Val9317Ile) c.17803G>A (p.Val5935Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178602349A>C | CA430269362 | TTN,TTN-AS1 | c.47349T>G (p.Ala15783=) c.28434T>G (p.Ala9478=) c.28233T>G (p.Ala9411=) c.27858T>G (p.Ala9286=) c.55053T>G (p.Ala18351=) c.50130T>G (p.Ala16710=) n.682+4668A>C n.3917+1682A>C c.54150T>G (p.Ala18050=) c.28044T>G (p.Ala9348=) c.27903T>G (p.Ala9301=) c.53946T>G (p.Ala17982=) c.49344T>G (p.Ala16448=) c.49341T>G (p.Ala16447=) c.46383T>G (p.Ala15461=) c.27999T>G (p.Ala9333=) c.49494T>G (p.Ala16498=) c.49491T>G (p.Ala16497=) c.48924T>G (p.Ala16308=) c.46266T>G (p.Ala15422=) c.46185T>G (p.Ala15395=) c.27948T>G (p.Ala9316=) c.17802T>G (p.Ala5934=) | |
2 | g.178602349A>G | CA430269363 | TTN,TTN-AS1 | c.47349T>C (p.Ala15783=) c.28434T>C (p.Ala9478=) c.28233T>C (p.Ala9411=) c.27858T>C (p.Ala9286=) c.55053T>C (p.Ala18351=) c.50130T>C (p.Ala16710=) n.682+4668A>G n.3917+1682A>G c.54150T>C (p.Ala18050=) c.28044T>C (p.Ala9348=) c.27903T>C (p.Ala9301=) c.53946T>C (p.Ala17982=) c.49344T>C (p.Ala16448=) c.49341T>C (p.Ala16447=) c.46383T>C (p.Ala15461=) c.27999T>C (p.Ala9333=) c.49494T>C (p.Ala16498=) c.49491T>C (p.Ala16497=) c.48924T>C (p.Ala16308=) c.46266T>C (p.Ala15422=) c.46185T>C (p.Ala15395=) c.27948T>C (p.Ala9316=) c.17802T>C (p.Ala5934=) | |
2 | g.178602349A>T | CA430269364 | TTN,TTN-AS1 | c.47349T>A (p.Ala15783=) c.28434T>A (p.Ala9478=) c.28233T>A (p.Ala9411=) c.27858T>A (p.Ala9286=) c.55053T>A (p.Ala18351=) c.50130T>A (p.Ala16710=) n.682+4668A>T n.3917+1682A>T c.54150T>A (p.Ala18050=) c.28044T>A (p.Ala9348=) c.27903T>A (p.Ala9301=) c.53946T>A (p.Ala17982=) c.49344T>A (p.Ala16448=) c.49341T>A (p.Ala16447=) c.46383T>A (p.Ala15461=) c.27999T>A (p.Ala9333=) c.49494T>A (p.Ala16498=) c.49491T>A (p.Ala16497=) c.48924T>A (p.Ala16308=) c.46266T>A (p.Ala15422=) c.46185T>A (p.Ala15395=) c.27948T>A (p.Ala9316=) c.17802T>A (p.Ala5934=) | |
2 | g.178602350G>A | CA349545386 | TTN,TTN-AS1 | c.47348C>T (p.Ala15783Val) c.28433C>T (p.Ala9478Val) c.28232C>T (p.Ala9411Val) c.27857C>T (p.Ala9286Val) c.55052C>T (p.Ala18351Val) c.50129C>T (p.Ala16710Val) n.682+4669G>A n.3917+1683G>A c.54149C>T (p.Ala18050Val) c.28043C>T (p.Ala9348Val) c.27902C>T (p.Ala9301Val) c.53945C>T (p.Ala17982Val) c.49343C>T (p.Ala16448Val) c.49340C>T (p.Ala16447Val) c.46382C>T (p.Ala15461Val) c.27998C>T (p.Ala9333Val) c.49493C>T (p.Ala16498Val) c.49490C>T (p.Ala16497Val) c.48923C>T (p.Ala16308Val) c.46265C>T (p.Ala15422Val) c.46184C>T (p.Ala15395Val) c.27947C>T (p.Ala9316Val) c.17801C>T (p.Ala5934Val) | gnomAD v4 |
2 | g.178602350G>C | CA60978403 | TTN,TTN-AS1 | c.47348C>G (p.Ala15783Gly) c.28433C>G (p.Ala9478Gly) c.28232C>G (p.Ala9411Gly) c.27857C>G (p.Ala9286Gly) c.55052C>G (p.Ala18351Gly) c.50129C>G (p.Ala16710Gly) n.682+4669G>C n.3917+1683G>C c.54149C>G (p.Ala18050Gly) c.28043C>G (p.Ala9348Gly) c.27902C>G (p.Ala9301Gly) c.53945C>G (p.Ala17982Gly) c.49343C>G (p.Ala16448Gly) c.49340C>G (p.Ala16447Gly) c.46382C>G (p.Ala15461Gly) c.27998C>G (p.Ala9333Gly) c.49493C>G (p.Ala16498Gly) c.49490C>G (p.Ala16497Gly) c.48923C>G (p.Ala16308Gly) c.46265C>G (p.Ala15422Gly) c.46184C>G (p.Ala15395Gly) c.27947C>G (p.Ala9316Gly) c.17801C>G (p.Ala5934Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178602350G= | CA1310544487 | TTN,TTN-AS1 | c.47348C= (p.Ala15783=) c.28433C= (p.Ala9478=) c.28232C= (p.Ala9411=) c.27857C= (p.Ala9286=) c.55052C= (p.Ala18351=) c.50129C= (p.Ala16710=) n.682+4669G= n.3917+1683G= c.54149C= (p.Ala18050=) c.28043C= (p.Ala9348=) c.27902C= (p.Ala9301=) c.53945C= (p.Ala17982=) c.49343C= (p.Ala16448=) c.49340C= (p.Ala16447=) c.46382C= (p.Ala15461=) c.27998C= (p.Ala9333=) c.49493C= (p.Ala16498=) c.49490C= (p.Ala16497=) c.48923C= (p.Ala16308=) c.46265C= (p.Ala15422=) c.46184C= (p.Ala15395=) c.27947C= (p.Ala9316=) c.17801C= (p.Ala5934=) | |
2 | g.178602350G>T | CA349545398 | TTN,TTN-AS1 | c.47348C>A (p.Ala15783Asp) c.28433C>A (p.Ala9478Asp) c.28232C>A (p.Ala9411Asp) c.27857C>A (p.Ala9286Asp) c.55052C>A (p.Ala18351Asp) c.50129C>A (p.Ala16710Asp) n.682+4669G>T n.3917+1683G>T c.54149C>A (p.Ala18050Asp) c.28043C>A (p.Ala9348Asp) c.27902C>A (p.Ala9301Asp) c.53945C>A (p.Ala17982Asp) c.49343C>A (p.Ala16448Asp) c.49340C>A (p.Ala16447Asp) c.46382C>A (p.Ala15461Asp) c.27998C>A (p.Ala9333Asp) c.49493C>A (p.Ala16498Asp) c.49490C>A (p.Ala16497Asp) c.48923C>A (p.Ala16308Asp) c.46265C>A (p.Ala15422Asp) c.46184C>A (p.Ala15395Asp) c.27947C>A (p.Ala9316Asp) c.17801C>A (p.Ala5934Asp) | dbSNP |
2 | g.178602351C>A | CA349545408 | TTN,TTN-AS1 | c.47347G>T (p.Ala15783Ser) c.28432G>T (p.Ala9478Ser) c.28231G>T (p.Ala9411Ser) c.27856G>T (p.Ala9286Ser) c.55051G>T (p.Ala18351Ser) c.50128G>T (p.Ala16710Ser) n.682+4670C>A n.3917+1684C>A c.54148G>T (p.Ala18050Ser) c.28042G>T (p.Ala9348Ser) c.27901G>T (p.Ala9301Ser) c.53944G>T (p.Ala17982Ser) c.49342G>T (p.Ala16448Ser) c.49339G>T (p.Ala16447Ser) c.46381G>T (p.Ala15461Ser) c.27997G>T (p.Ala9333Ser) c.49492G>T (p.Ala16498Ser) c.49489G>T (p.Ala16497Ser) c.48922G>T (p.Ala16308Ser) c.46264G>T (p.Ala15422Ser) c.46183G>T (p.Ala15395Ser) c.27946G>T (p.Ala9316Ser) c.17800G>T (p.Ala5934Ser) | |
2 | g.178602351C>G | CA349545419 | TTN,TTN-AS1 | c.47347G>C (p.Ala15783Pro) c.28432G>C (p.Ala9478Pro) c.28231G>C (p.Ala9411Pro) c.27856G>C (p.Ala9286Pro) c.55051G>C (p.Ala18351Pro) c.50128G>C (p.Ala16710Pro) n.682+4670C>G n.3917+1684C>G c.54148G>C (p.Ala18050Pro) c.28042G>C (p.Ala9348Pro) c.27901G>C (p.Ala9301Pro) c.53944G>C (p.Ala17982Pro) c.49342G>C (p.Ala16448Pro) c.49339G>C (p.Ala16447Pro) c.46381G>C (p.Ala15461Pro) c.27997G>C (p.Ala9333Pro) c.49492G>C (p.Ala16498Pro) c.49489G>C (p.Ala16497Pro) c.48922G>C (p.Ala16308Pro) c.46264G>C (p.Ala15422Pro) c.46183G>C (p.Ala15395Pro) c.27946G>C (p.Ala9316Pro) c.17800G>C (p.Ala5934Pro) | |
2 | g.178602351C>T | CA349545414 | TTN,TTN-AS1 | c.47347G>A (p.Ala15783Thr) c.28432G>A (p.Ala9478Thr) c.28231G>A (p.Ala9411Thr) c.27856G>A (p.Ala9286Thr) c.55051G>A (p.Ala18351Thr) c.50128G>A (p.Ala16710Thr) n.682+4670C>T n.3917+1684C>T c.54148G>A (p.Ala18050Thr) c.28042G>A (p.Ala9348Thr) c.27901G>A (p.Ala9301Thr) c.53944G>A (p.Ala17982Thr) c.49342G>A (p.Ala16448Thr) c.49339G>A (p.Ala16447Thr) c.46381G>A (p.Ala15461Thr) c.27997G>A (p.Ala9333Thr) c.49492G>A (p.Ala16498Thr) c.49489G>A (p.Ala16497Thr) c.48922G>A (p.Ala16308Thr) c.46264G>A (p.Ala15422Thr) c.46183G>A (p.Ala15395Thr) c.27946G>A (p.Ala9316Thr) c.17800G>A (p.Ala5934Thr) | |
2 | g.178602352T>A | CA349545424 | TTN,TTN-AS1 | c.47346A>T (p.Lys15782Asn) c.28431A>T (p.Lys9477Asn) c.28230A>T (p.Lys9410Asn) c.27855A>T (p.Lys9285Asn) c.55050A>T (p.Lys18350Asn) c.50127A>T (p.Lys16709Asn) n.682+4671T>A n.3917+1685T>A c.54147A>T (p.Lys18049Asn) c.28041A>T (p.Lys9347Asn) c.27900A>T (p.Lys9300Asn) c.53943A>T (p.Lys17981Asn) c.49341A>T (p.Lys16447Asn) c.49338A>T (p.Lys16446Asn) c.46380A>T (p.Lys15460Asn) c.27996A>T (p.Lys9332Asn) c.49491A>T (p.Lys16497Asn) c.49488A>T (p.Lys16496Asn) c.48921A>T (p.Lys16307Asn) c.46263A>T (p.Lys15421Asn) c.46182A>T (p.Lys15394Asn) c.27945A>T (p.Lys9315Asn) c.17799A>T (p.Lys5933Asn) | |
2 | g.178602352T>C | CA430269368 | TTN,TTN-AS1 | c.47346A>G (p.Lys15782=) c.28431A>G (p.Lys9477=) c.28230A>G (p.Lys9410=) c.27855A>G (p.Lys9285=) c.55050A>G (p.Lys18350=) c.50127A>G (p.Lys16709=) n.682+4671T>C n.3917+1685T>C c.54147A>G (p.Lys18049=) c.28041A>G (p.Lys9347=) c.27900A>G (p.Lys9300=) c.53943A>G (p.Lys17981=) c.49341A>G (p.Lys16447=) c.49338A>G (p.Lys16446=) c.46380A>G (p.Lys15460=) c.27996A>G (p.Lys9332=) c.49491A>G (p.Lys16497=) c.49488A>G (p.Lys16496=) c.48921A>G (p.Lys16307=) c.46263A>G (p.Lys15421=) c.46182A>G (p.Lys15394=) c.27945A>G (p.Lys9315=) c.17799A>G (p.Lys5933=) | |
2 | g.178602352T>G | CA349545427 | TTN,TTN-AS1 | c.47346A>C (p.Lys15782Asn) c.28431A>C (p.Lys9477Asn) c.28230A>C (p.Lys9410Asn) c.27855A>C (p.Lys9285Asn) c.55050A>C (p.Lys18350Asn) c.50127A>C (p.Lys16709Asn) n.682+4671T>G n.3917+1685T>G c.54147A>C (p.Lys18049Asn) c.28041A>C (p.Lys9347Asn) c.27900A>C (p.Lys9300Asn) c.53943A>C (p.Lys17981Asn) c.49341A>C (p.Lys16447Asn) c.49338A>C (p.Lys16446Asn) c.46380A>C (p.Lys15460Asn) c.27996A>C (p.Lys9332Asn) c.49491A>C (p.Lys16497Asn) c.49488A>C (p.Lys16496Asn) c.48921A>C (p.Lys16307Asn) c.46263A>C (p.Lys15421Asn) c.46182A>C (p.Lys15394Asn) c.27945A>C (p.Lys9315Asn) c.17799A>C (p.Lys5933Asn) | |
2 | g.178602353T>A | CA349545434 | TTN,TTN-AS1 | c.47345A>T (p.Lys15782Ile) c.28430A>T (p.Lys9477Ile) c.28229A>T (p.Lys9410Ile) c.27854A>T (p.Lys9285Ile) c.55049A>T (p.Lys18350Ile) c.50126A>T (p.Lys16709Ile) n.682+4672T>A n.3917+1686T>A c.54146A>T (p.Lys18049Ile) c.28040A>T (p.Lys9347Ile) c.27899A>T (p.Lys9300Ile) c.53942A>T (p.Lys17981Ile) c.49340A>T (p.Lys16447Ile) c.49337A>T (p.Lys16446Ile) c.46379A>T (p.Lys15460Ile) c.27995A>T (p.Lys9332Ile) c.49490A>T (p.Lys16497Ile) c.49487A>T (p.Lys16496Ile) c.48920A>T (p.Lys16307Ile) c.46262A>T (p.Lys15421Ile) c.46181A>T (p.Lys15394Ile) c.27944A>T (p.Lys9315Ile) c.17798A>T (p.Lys5933Ile) | |
2 | g.178602353T>C | CA349545435 | TTN,TTN-AS1 | c.47345A>G (p.Lys15782Arg) c.28430A>G (p.Lys9477Arg) c.28229A>G (p.Lys9410Arg) c.27854A>G (p.Lys9285Arg) c.55049A>G (p.Lys18350Arg) c.50126A>G (p.Lys16709Arg) n.682+4672T>C n.3917+1686T>C c.54146A>G (p.Lys18049Arg) c.28040A>G (p.Lys9347Arg) c.27899A>G (p.Lys9300Arg) c.53942A>G (p.Lys17981Arg) c.49340A>G (p.Lys16447Arg) c.49337A>G (p.Lys16446Arg) c.46379A>G (p.Lys15460Arg) c.27995A>G (p.Lys9332Arg) c.49490A>G (p.Lys16497Arg) c.49487A>G (p.Lys16496Arg) c.48920A>G (p.Lys16307Arg) c.46262A>G (p.Lys15421Arg) c.46181A>G (p.Lys15394Arg) c.27944A>G (p.Lys9315Arg) c.17798A>G (p.Lys5933Arg) |