Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.178530378_178530392del | CA538434977 | TTN,TTN-AS1 | c.98528_98542del (p.Lys32843_Pro32847del) c.79613_79627del (p.Lys26538_Pro26542del) c.79412_79426del (p.Lys26471_Pro26475del) c.79037_79051del (p.Lys26346_Pro26350del) c.106232_106246del (p.Lys35411_Pro35415del) c.101309_101323del (p.Lys33770_Pro33774del) n.446+6742_446+6756del n.220-5354_220-5340del c.105329_105343del (p.Lys35110_Pro35114del) c.79223_79237del (p.Lys26408_Pro26412del) c.79082_79096del (p.Lys26361_Pro26365del) c.105125_105139del (p.Lys35042_Pro35046del) c.100523_100537del (p.Lys33508_Pro33512del) c.100520_100534del (p.Lys33507_Pro33511del) c.97562_97576del (p.Lys32521_Pro32525del) c.79178_79192del (p.Lys26393_Pro26397del) c.100673_100687del (p.Lys33558_Pro33562del) c.100670_100684del (p.Lys33557_Pro33561del) c.100103_100117del (p.Lys33368_Pro33372del) c.97445_97459del (p.Lys32482_Pro32486del) c.97364_97378del (p.Lys32455_Pro32459del) c.79127_79141del (p.Lys26376_Pro26380del) c.68981_68995del (p.Lys22994_Pro22998del) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.178530389T>A | CA349406533 | TTN,TTN-AS1 | c.98522A>T (p.Glu32841Val) c.79607A>T (p.Glu26536Val) c.79406A>T (p.Glu26469Val) c.79031A>T (p.Glu26344Val) c.106226A>T (p.Glu35409Val) c.101303A>T (p.Glu33768Val) n.446+6753T>A n.220-5343T>A c.105323A>T (p.Glu35108Val) c.79217A>T (p.Glu26406Val) c.79076A>T (p.Glu26359Val) c.105119A>T (p.Glu35040Val) c.100517A>T (p.Glu33506Val) c.100514A>T (p.Glu33505Val) c.97556A>T (p.Glu32519Val) c.79172A>T (p.Glu26391Val) c.100667A>T (p.Glu33556Val) c.100664A>T (p.Glu33555Val) c.100097A>T (p.Glu33366Val) c.97439A>T (p.Glu32480Val) c.97358A>T (p.Glu32453Val) c.79121A>T (p.Glu26374Val) c.68975A>T (p.Glu22992Val) | |
2 | g.178530389T>C | CA349406531 | TTN,TTN-AS1 | c.98522A>G (p.Glu32841Gly) c.79607A>G (p.Glu26536Gly) c.79406A>G (p.Glu26469Gly) c.79031A>G (p.Glu26344Gly) c.106226A>G (p.Glu35409Gly) c.101303A>G (p.Glu33768Gly) n.446+6753T>C n.220-5343T>C c.105323A>G (p.Glu35108Gly) c.79217A>G (p.Glu26406Gly) c.79076A>G (p.Glu26359Gly) c.105119A>G (p.Glu35040Gly) c.100517A>G (p.Glu33506Gly) c.100514A>G (p.Glu33505Gly) c.97556A>G (p.Glu32519Gly) c.79172A>G (p.Glu26391Gly) c.100667A>G (p.Glu33556Gly) c.100664A>G (p.Glu33555Gly) c.100097A>G (p.Glu33366Gly) c.97439A>G (p.Glu32480Gly) c.97358A>G (p.Glu32453Gly) c.79121A>G (p.Glu26374Gly) c.68975A>G (p.Glu22992Gly) | |
2 | g.178530389T>G | CA349406529 | TTN,TTN-AS1 | c.98522A>C (p.Glu32841Ala) c.79607A>C (p.Glu26536Ala) c.79406A>C (p.Glu26469Ala) c.79031A>C (p.Glu26344Ala) c.106226A>C (p.Glu35409Ala) c.101303A>C (p.Glu33768Ala) n.446+6753T>G n.220-5343T>G c.105323A>C (p.Glu35108Ala) c.79217A>C (p.Glu26406Ala) c.79076A>C (p.Glu26359Ala) c.105119A>C (p.Glu35040Ala) c.100517A>C (p.Glu33506Ala) c.100514A>C (p.Glu33505Ala) c.97556A>C (p.Glu32519Ala) c.79172A>C (p.Glu26391Ala) c.100667A>C (p.Glu33556Ala) c.100664A>C (p.Glu33555Ala) c.100097A>C (p.Glu33366Ala) c.97439A>C (p.Glu32480Ala) c.97358A>C (p.Glu32453Ala) c.79121A>C (p.Glu26374Ala) c.68975A>C (p.Glu22992Ala) | |
2 | g.178530390C>A | CA349406535 | TTN,TTN-AS1 | c.98521G>T (p.Glu32841Ter) c.79606G>T (p.Glu26536Ter) c.79405G>T (p.Glu26469Ter) c.79030G>T (p.Glu26344Ter) c.106225G>T (p.Glu35409Ter) c.101302G>T (p.Glu33768Ter) n.446+6754C>A n.220-5342C>A c.105322G>T (p.Glu35108Ter) c.79216G>T (p.Glu26406Ter) c.79075G>T (p.Glu26359Ter) c.105118G>T (p.Glu35040Ter) c.100516G>T (p.Glu33506Ter) c.100513G>T (p.Glu33505Ter) c.97555G>T (p.Glu32519Ter) c.79171G>T (p.Glu26391Ter) c.100666G>T (p.Glu33556Ter) c.100663G>T (p.Glu33555Ter) c.100096G>T (p.Glu33366Ter) c.97438G>T (p.Glu32480Ter) c.97357G>T (p.Glu32453Ter) c.79120G>T (p.Glu26374Ter) c.68974G>T (p.Glu22992Ter) | |
2 | g.178530390C= | CA1310514577 | TTN,TTN-AS1 | c.98521G= (p.Glu32841=) c.79606G= (p.Glu26536=) c.79405G= (p.Glu26469=) c.79030G= (p.Glu26344=) c.106225G= (p.Glu35409=) c.101302G= (p.Glu33768=) n.446+6754C= n.220-5342C= c.105322G= (p.Glu35108=) c.79216G= (p.Glu26406=) c.79075G= (p.Glu26359=) c.105118G= (p.Glu35040=) c.100516G= (p.Glu33506=) c.100513G= (p.Glu33505=) c.97555G= (p.Glu32519=) c.79171G= (p.Glu26391=) c.100666G= (p.Glu33556=) c.100663G= (p.Glu33555=) c.100096G= (p.Glu33366=) c.97438G= (p.Glu32480=) c.97357G= (p.Glu32453=) c.79120G= (p.Glu26374=) c.68974G= (p.Glu22992=) | |
2 | g.178530390C>G | CA349406540 | TTN,TTN-AS1 | c.98521G>C (p.Glu32841Gln) c.79606G>C (p.Glu26536Gln) c.79405G>C (p.Glu26469Gln) c.79030G>C (p.Glu26344Gln) c.106225G>C (p.Glu35409Gln) c.101302G>C (p.Glu33768Gln) n.446+6754C>G n.220-5342C>G c.105322G>C (p.Glu35108Gln) c.79216G>C (p.Glu26406Gln) c.79075G>C (p.Glu26359Gln) c.105118G>C (p.Glu35040Gln) c.100516G>C (p.Glu33506Gln) c.100513G>C (p.Glu33505Gln) c.97555G>C (p.Glu32519Gln) c.79171G>C (p.Glu26391Gln) c.100666G>C (p.Glu33556Gln) c.100663G>C (p.Glu33555Gln) c.100096G>C (p.Glu33366Gln) c.97438G>C (p.Glu32480Gln) c.97357G>C (p.Glu32453Gln) c.79120G>C (p.Glu26374Gln) c.68974G>C (p.Glu22992Gln) | |
2 | g.178530390C>T | CA349406537 | TTN,TTN-AS1 | c.98521G>A (p.Glu32841Lys) c.79606G>A (p.Glu26536Lys) c.79405G>A (p.Glu26469Lys) c.79030G>A (p.Glu26344Lys) c.106225G>A (p.Glu35409Lys) c.101302G>A (p.Glu33768Lys) n.446+6754C>T n.220-5342C>T c.105322G>A (p.Glu35108Lys) c.79216G>A (p.Glu26406Lys) c.79075G>A (p.Glu26359Lys) c.105118G>A (p.Glu35040Lys) c.100516G>A (p.Glu33506Lys) c.100513G>A (p.Glu33505Lys) c.97555G>A (p.Glu32519Lys) c.79171G>A (p.Glu26391Lys) c.100666G>A (p.Glu33556Lys) c.100663G>A (p.Glu33555Lys) c.100096G>A (p.Glu33366Lys) c.97438G>A (p.Glu32480Lys) c.97357G>A (p.Glu32453Lys) c.79120G>A (p.Glu26374Lys) c.68974G>A (p.Glu22992Lys) | dbSNP |
2 | g.178530391A>C | CA430235267 | TTN,TTN-AS1 | c.98520T>G (p.Thr32840=) c.79605T>G (p.Thr26535=) c.79404T>G (p.Thr26468=) c.79029T>G (p.Thr26343=) c.106224T>G (p.Thr35408=) c.101301T>G (p.Thr33767=) n.446+6755A>C n.220-5341A>C c.105321T>G (p.Thr35107=) c.79215T>G (p.Thr26405=) c.79074T>G (p.Thr26358=) c.105117T>G (p.Thr35039=) c.100515T>G (p.Thr33505=) c.100512T>G (p.Thr33504=) c.97554T>G (p.Thr32518=) c.79170T>G (p.Thr26390=) c.100665T>G (p.Thr33555=) c.100662T>G (p.Thr33554=) c.100095T>G (p.Thr33365=) c.97437T>G (p.Thr32479=) c.97356T>G (p.Thr32452=) c.79119T>G (p.Thr26373=) c.68973T>G (p.Thr22991=) | |
2 | g.178530391A>G | CA430235271 | TTN,TTN-AS1 | c.98520T>C (p.Thr32840=) c.79605T>C (p.Thr26535=) c.79404T>C (p.Thr26468=) c.79029T>C (p.Thr26343=) c.106224T>C (p.Thr35408=) c.101301T>C (p.Thr33767=) n.446+6755A>G n.220-5341A>G c.105321T>C (p.Thr35107=) c.79215T>C (p.Thr26405=) c.79074T>C (p.Thr26358=) c.105117T>C (p.Thr35039=) c.100515T>C (p.Thr33505=) c.100512T>C (p.Thr33504=) c.97554T>C (p.Thr32518=) c.79170T>C (p.Thr26390=) c.100665T>C (p.Thr33555=) c.100662T>C (p.Thr33554=) c.100095T>C (p.Thr33365=) c.97437T>C (p.Thr32479=) c.97356T>C (p.Thr32452=) c.79119T>C (p.Thr26373=) c.68973T>C (p.Thr22991=) | |
2 | g.178530391A>T | CA430235269 | TTN,TTN-AS1 | c.98520T>A (p.Thr32840=) c.79605T>A (p.Thr26535=) c.79404T>A (p.Thr26468=) c.79029T>A (p.Thr26343=) c.106224T>A (p.Thr35408=) c.101301T>A (p.Thr33767=) n.446+6755A>T n.220-5341A>T c.105321T>A (p.Thr35107=) c.79215T>A (p.Thr26405=) c.79074T>A (p.Thr26358=) c.105117T>A (p.Thr35039=) c.100515T>A (p.Thr33505=) c.100512T>A (p.Thr33504=) c.97554T>A (p.Thr32518=) c.79170T>A (p.Thr26390=) c.100665T>A (p.Thr33555=) c.100662T>A (p.Thr33554=) c.100095T>A (p.Thr33365=) c.97437T>A (p.Thr32479=) c.97356T>A (p.Thr32452=) c.79119T>A (p.Thr26373=) c.68973T>A (p.Thr22991=) | |
2 | g.178530392G>A | CA349406542 | TTN,TTN-AS1 | c.98519C>T (p.Thr32840Ile) c.79604C>T (p.Thr26535Ile) c.79403C>T (p.Thr26468Ile) c.79028C>T (p.Thr26343Ile) c.106223C>T (p.Thr35408Ile) c.101300C>T (p.Thr33767Ile) n.446+6756G>A n.220-5340G>A c.105320C>T (p.Thr35107Ile) c.79214C>T (p.Thr26405Ile) c.79073C>T (p.Thr26358Ile) c.105116C>T (p.Thr35039Ile) c.100514C>T (p.Thr33505Ile) c.100511C>T (p.Thr33504Ile) c.97553C>T (p.Thr32518Ile) c.79169C>T (p.Thr26390Ile) c.100664C>T (p.Thr33555Ile) c.100661C>T (p.Thr33554Ile) c.100094C>T (p.Thr33365Ile) c.97436C>T (p.Thr32479Ile) c.97355C>T (p.Thr32452Ile) c.79118C>T (p.Thr26373Ile) c.68972C>T (p.Thr22991Ile) | gnomAD v4 |
2 | g.178530392G>C | CA349406545 | TTN,TTN-AS1 | c.98519C>G (p.Thr32840Ser) c.79604C>G (p.Thr26535Ser) c.79403C>G (p.Thr26468Ser) c.79028C>G (p.Thr26343Ser) c.106223C>G (p.Thr35408Ser) c.101300C>G (p.Thr33767Ser) n.446+6756G>C n.220-5340G>C c.105320C>G (p.Thr35107Ser) c.79214C>G (p.Thr26405Ser) c.79073C>G (p.Thr26358Ser) c.105116C>G (p.Thr35039Ser) c.100514C>G (p.Thr33505Ser) c.100511C>G (p.Thr33504Ser) c.97553C>G (p.Thr32518Ser) c.79169C>G (p.Thr26390Ser) c.100664C>G (p.Thr33555Ser) c.100661C>G (p.Thr33554Ser) c.100094C>G (p.Thr33365Ser) c.97436C>G (p.Thr32479Ser) c.97355C>G (p.Thr32452Ser) c.79118C>G (p.Thr26373Ser) c.68972C>G (p.Thr22991Ser) | |
2 | g.178530392G= | CA1310514580 | TTN,TTN-AS1 | c.98519C= (p.Thr32840=) c.79604C= (p.Thr26535=) c.79403C= (p.Thr26468=) c.79028C= (p.Thr26343=) c.106223C= (p.Thr35408=) c.101300C= (p.Thr33767=) n.446+6756G= n.220-5340G= c.105320C= (p.Thr35107=) c.79214C= (p.Thr26405=) c.79073C= (p.Thr26358=) c.105116C= (p.Thr35039=) c.100514C= (p.Thr33505=) c.100511C= (p.Thr33504=) c.97553C= (p.Thr32518=) c.79169C= (p.Thr26390=) c.100664C= (p.Thr33555=) c.100661C= (p.Thr33554=) c.100094C= (p.Thr33365=) c.97436C= (p.Thr32479=) c.97355C= (p.Thr32452=) c.79118C= (p.Thr26373=) c.68972C= (p.Thr22991=) | |
2 | g.178530392G>T | CA349406544 | TTN,TTN-AS1 | c.98519C>A (p.Thr32840Asn) c.79604C>A (p.Thr26535Asn) c.79403C>A (p.Thr26468Asn) c.79028C>A (p.Thr26343Asn) c.106223C>A (p.Thr35408Asn) c.101300C>A (p.Thr33767Asn) n.446+6756G>T n.220-5340G>T c.105320C>A (p.Thr35107Asn) c.79214C>A (p.Thr26405Asn) c.79073C>A (p.Thr26358Asn) c.105116C>A (p.Thr35039Asn) c.100514C>A (p.Thr33505Asn) c.100511C>A (p.Thr33504Asn) c.97553C>A (p.Thr32518Asn) c.79169C>A (p.Thr26390Asn) c.100664C>A (p.Thr33555Asn) c.100661C>A (p.Thr33554Asn) c.100094C>A (p.Thr33365Asn) c.97436C>A (p.Thr32479Asn) c.97355C>A (p.Thr32452Asn) c.79118C>A (p.Thr26373Asn) c.68972C>A (p.Thr22991Asn) | ClinVar dbSNP |
2 | g.178530393T>A | CA349406546 | TTN,TTN-AS1 | c.98518A>T (p.Thr32840Ser) c.79603A>T (p.Thr26535Ser) c.79402A>T (p.Thr26468Ser) c.79027A>T (p.Thr26343Ser) c.106222A>T (p.Thr35408Ser) c.101299A>T (p.Thr33767Ser) n.446+6757T>A n.220-5339T>A c.105319A>T (p.Thr35107Ser) c.79213A>T (p.Thr26405Ser) c.79072A>T (p.Thr26358Ser) c.105115A>T (p.Thr35039Ser) c.100513A>T (p.Thr33505Ser) c.100510A>T (p.Thr33504Ser) c.97552A>T (p.Thr32518Ser) c.79168A>T (p.Thr26390Ser) c.100663A>T (p.Thr33555Ser) c.100660A>T (p.Thr33554Ser) c.100093A>T (p.Thr33365Ser) c.97435A>T (p.Thr32479Ser) c.97354A>T (p.Thr32452Ser) c.79117A>T (p.Thr26373Ser) c.68971A>T (p.Thr22991Ser) | |
2 | g.178530393T>C | CA349406547 | TTN,TTN-AS1 | c.98518A>G (p.Thr32840Ala) c.79603A>G (p.Thr26535Ala) c.79402A>G (p.Thr26468Ala) c.79027A>G (p.Thr26343Ala) c.106222A>G (p.Thr35408Ala) c.101299A>G (p.Thr33767Ala) n.446+6757T>C n.220-5339T>C c.105319A>G (p.Thr35107Ala) c.79213A>G (p.Thr26405Ala) c.79072A>G (p.Thr26358Ala) c.105115A>G (p.Thr35039Ala) c.100513A>G (p.Thr33505Ala) c.100510A>G (p.Thr33504Ala) c.97552A>G (p.Thr32518Ala) c.79168A>G (p.Thr26390Ala) c.100663A>G (p.Thr33555Ala) c.100660A>G (p.Thr33554Ala) c.100093A>G (p.Thr33365Ala) c.97435A>G (p.Thr32479Ala) c.97354A>G (p.Thr32452Ala) c.79117A>G (p.Thr26373Ala) c.68971A>G (p.Thr22991Ala) | gnomAD v4 |
2 | g.178530393T>G | CA349406550 | TTN,TTN-AS1 | c.98518A>C (p.Thr32840Pro) c.79603A>C (p.Thr26535Pro) c.79402A>C (p.Thr26468Pro) c.79027A>C (p.Thr26343Pro) c.106222A>C (p.Thr35408Pro) c.101299A>C (p.Thr33767Pro) n.446+6757T>G n.220-5339T>G c.105319A>C (p.Thr35107Pro) c.79213A>C (p.Thr26405Pro) c.79072A>C (p.Thr26358Pro) c.105115A>C (p.Thr35039Pro) c.100513A>C (p.Thr33505Pro) c.100510A>C (p.Thr33504Pro) c.97552A>C (p.Thr32518Pro) c.79168A>C (p.Thr26390Pro) c.100663A>C (p.Thr33555Pro) c.100660A>C (p.Thr33554Pro) c.100093A>C (p.Thr33365Pro) c.97435A>C (p.Thr32479Pro) c.97354A>C (p.Thr32452Pro) c.79117A>C (p.Thr26373Pro) c.68971A>C (p.Thr22991Pro) | |
2 | g.178530397dup | CA1310514582 | TTN,TTN-AS1 | c.98518dup (p.Thr32840AsnfsTer2) c.79603dup (p.Thr26535AsnfsTer2) c.79402dup (p.Thr26468AsnfsTer2) c.79027dup (p.Thr26343AsnfsTer2) c.106222dup (p.Thr35408AsnfsTer2) c.101299dup (p.Thr33767AsnfsTer2) n.446+6761dup n.220-5335dup c.105319dup (p.Thr35107AsnfsTer2) c.79213dup (p.Thr26405AsnfsTer2) c.79072dup (p.Thr26358AsnfsTer2) c.105115dup (p.Thr35039AsnfsTer2) c.100513dup (p.Thr33505AsnfsTer2) c.100510dup (p.Thr33504AsnfsTer2) c.97552dup (p.Thr32518AsnfsTer2) c.79168dup (p.Thr26390AsnfsTer2) c.100663dup (p.Thr33555AsnfsTer2) c.100660dup (p.Thr33554AsnfsTer2) c.100093dup (p.Thr33365AsnfsTer2) c.97435dup (p.Thr32479AsnfsTer2) c.97354dup (p.Thr32452AsnfsTer2) c.79117dup (p.Thr26373AsnfsTer2) c.68971dup (p.Thr22991AsnfsTer2) | dbSNP |
2 | g.178530397del | CA2662125713 | TTN,TTN-AS1 | c.98518del (p.Thr32840LeufsTer14) c.79603del (p.Thr26535LeufsTer14) c.79402del (p.Thr26468LeufsTer14) c.79027del (p.Thr26343LeufsTer14) c.106222del (p.Thr35408LeufsTer14) c.101299del (p.Thr33767LeufsTer14) n.446+6761del n.220-5335del c.105319del (p.Thr35107LeufsTer14) c.79213del (p.Thr26405LeufsTer14) c.79072del (p.Thr26358LeufsTer14) c.105115del (p.Thr35039LeufsTer14) c.100513del (p.Thr33505LeufsTer14) c.100510del (p.Thr33504LeufsTer14) c.97552del (p.Thr32518LeufsTer14) c.79168del (p.Thr26390LeufsTer14) c.100663del (p.Thr33555LeufsTer14) c.100660del (p.Thr33554LeufsTer14) c.100093del (p.Thr33365LeufsTer14) c.97435del (p.Thr32479LeufsTer14) c.97354del (p.Thr32452LeufsTer14) c.79117del (p.Thr26373LeufsTer14) c.68971del (p.Thr22991LeufsTer14) | gnomAD v4 |
2 | g.178530394T>A | CA349406552 | TTN,TTN-AS1 | c.98517A>T (p.Lys32839Asn) c.79602A>T (p.Lys26534Asn) c.79401A>T (p.Lys26467Asn) c.79026A>T (p.Lys26342Asn) c.106221A>T (p.Lys35407Asn) c.101298A>T (p.Lys33766Asn) n.446+6758T>A n.220-5338T>A c.105318A>T (p.Lys35106Asn) c.79212A>T (p.Lys26404Asn) c.79071A>T (p.Lys26357Asn) c.105114A>T (p.Lys35038Asn) c.100512A>T (p.Lys33504Asn) c.100509A>T (p.Lys33503Asn) c.97551A>T (p.Lys32517Asn) c.79167A>T (p.Lys26389Asn) c.100662A>T (p.Lys33554Asn) c.100659A>T (p.Lys33553Asn) c.100092A>T (p.Lys33364Asn) c.97434A>T (p.Lys32478Asn) c.97353A>T (p.Lys32451Asn) c.79116A>T (p.Lys26372Asn) c.68970A>T (p.Lys22990Asn) | |
2 | g.178530394T>C | CA430235273 | TTN,TTN-AS1 | c.98517A>G (p.Lys32839=) c.79602A>G (p.Lys26534=) c.79401A>G (p.Lys26467=) c.79026A>G (p.Lys26342=) c.106221A>G (p.Lys35407=) c.101298A>G (p.Lys33766=) n.446+6758T>C n.220-5338T>C c.105318A>G (p.Lys35106=) c.79212A>G (p.Lys26404=) c.79071A>G (p.Lys26357=) c.105114A>G (p.Lys35038=) c.100512A>G (p.Lys33504=) c.100509A>G (p.Lys33503=) c.97551A>G (p.Lys32517=) c.79167A>G (p.Lys26389=) c.100662A>G (p.Lys33554=) c.100659A>G (p.Lys33553=) c.100092A>G (p.Lys33364=) c.97434A>G (p.Lys32478=) c.97353A>G (p.Lys32451=) c.79116A>G (p.Lys26372=) c.68970A>G (p.Lys22990=) | |
2 | g.178530394T>G | CA349406554 | TTN,TTN-AS1 | c.98517A>C (p.Lys32839Asn) c.79602A>C (p.Lys26534Asn) c.79401A>C (p.Lys26467Asn) c.79026A>C (p.Lys26342Asn) c.106221A>C (p.Lys35407Asn) c.101298A>C (p.Lys33766Asn) n.446+6758T>G n.220-5338T>G c.105318A>C (p.Lys35106Asn) c.79212A>C (p.Lys26404Asn) c.79071A>C (p.Lys26357Asn) c.105114A>C (p.Lys35038Asn) c.100512A>C (p.Lys33504Asn) c.100509A>C (p.Lys33503Asn) c.97551A>C (p.Lys32517Asn) c.79167A>C (p.Lys26389Asn) c.100662A>C (p.Lys33554Asn) c.100659A>C (p.Lys33553Asn) c.100092A>C (p.Lys33364Asn) c.97434A>C (p.Lys32478Asn) c.97353A>C (p.Lys32451Asn) c.79116A>C (p.Lys26372Asn) c.68970A>C (p.Lys22990Asn) | |
2 | g.178530395T>A | CA349406556 | TTN,TTN-AS1 | c.98516A>T (p.Lys32839Ile) c.79601A>T (p.Lys26534Ile) c.79400A>T (p.Lys26467Ile) c.79025A>T (p.Lys26342Ile) c.106220A>T (p.Lys35407Ile) c.101297A>T (p.Lys33766Ile) n.446+6759T>A n.220-5337T>A c.105317A>T (p.Lys35106Ile) c.79211A>T (p.Lys26404Ile) c.79070A>T (p.Lys26357Ile) c.105113A>T (p.Lys35038Ile) c.100511A>T (p.Lys33504Ile) c.100508A>T (p.Lys33503Ile) c.97550A>T (p.Lys32517Ile) c.79166A>T (p.Lys26389Ile) c.100661A>T (p.Lys33554Ile) c.100658A>T (p.Lys33553Ile) c.100091A>T (p.Lys33364Ile) c.97433A>T (p.Lys32478Ile) c.97352A>T (p.Lys32451Ile) c.79115A>T (p.Lys26372Ile) c.68969A>T (p.Lys22990Ile) | |
2 | g.178530395T>C | CA349406558 | TTN,TTN-AS1 | c.98516A>G (p.Lys32839Arg) c.79601A>G (p.Lys26534Arg) c.79400A>G (p.Lys26467Arg) c.79025A>G (p.Lys26342Arg) c.106220A>G (p.Lys35407Arg) c.101297A>G (p.Lys33766Arg) n.446+6759T>C n.220-5337T>C c.105317A>G (p.Lys35106Arg) c.79211A>G (p.Lys26404Arg) c.79070A>G (p.Lys26357Arg) c.105113A>G (p.Lys35038Arg) c.100511A>G (p.Lys33504Arg) c.100508A>G (p.Lys33503Arg) c.97550A>G (p.Lys32517Arg) c.79166A>G (p.Lys26389Arg) c.100661A>G (p.Lys33554Arg) c.100658A>G (p.Lys33553Arg) c.100091A>G (p.Lys33364Arg) c.97433A>G (p.Lys32478Arg) c.97352A>G (p.Lys32451Arg) c.79115A>G (p.Lys26372Arg) c.68969A>G (p.Lys22990Arg) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.178530395T>G | CA349406560 | TTN,TTN-AS1 | c.98516A>C (p.Lys32839Thr) c.79601A>C (p.Lys26534Thr) c.79400A>C (p.Lys26467Thr) c.79025A>C (p.Lys26342Thr) c.106220A>C (p.Lys35407Thr) c.101297A>C (p.Lys33766Thr) n.446+6759T>G n.220-5337T>G c.105317A>C (p.Lys35106Thr) c.79211A>C (p.Lys26404Thr) c.79070A>C (p.Lys26357Thr) c.105113A>C (p.Lys35038Thr) c.100511A>C (p.Lys33504Thr) c.100508A>C (p.Lys33503Thr) c.97550A>C (p.Lys32517Thr) c.79166A>C (p.Lys26389Thr) c.100661A>C (p.Lys33554Thr) c.100658A>C (p.Lys33553Thr) c.100091A>C (p.Lys33364Thr) c.97433A>C (p.Lys32478Thr) c.97352A>C (p.Lys32451Thr) c.79115A>C (p.Lys26372Thr) c.68969A>C (p.Lys22990Thr) | |
2 | g.178530395T= | CA1310514583 | TTN,TTN-AS1 | c.98516A= (p.Lys32839=) c.79601A= (p.Lys26534=) c.79400A= (p.Lys26467=) c.79025A= (p.Lys26342=) c.106220A= (p.Lys35407=) c.101297A= (p.Lys33766=) n.446+6759T= n.220-5337T= c.105317A= (p.Lys35106=) c.79211A= (p.Lys26404=) c.79070A= (p.Lys26357=) c.105113A= (p.Lys35038=) c.100511A= (p.Lys33504=) c.100508A= (p.Lys33503=) c.97550A= (p.Lys32517=) c.79166A= (p.Lys26389=) c.100661A= (p.Lys33554=) c.100658A= (p.Lys33553=) c.100091A= (p.Lys33364=) c.97433A= (p.Lys32478=) c.97352A= (p.Lys32451=) c.79115A= (p.Lys26372=) c.68969A= (p.Lys22990=) | |
2 | g.178530396T>A | CA349406562 | TTN,TTN-AS1 | c.98515A>T (p.Lys32839Ter) c.79600A>T (p.Lys26534Ter) c.79399A>T (p.Lys26467Ter) c.79024A>T (p.Lys26342Ter) c.106219A>T (p.Lys35407Ter) c.101296A>T (p.Lys33766Ter) n.446+6760T>A n.220-5336T>A c.105316A>T (p.Lys35106Ter) c.79210A>T (p.Lys26404Ter) c.79069A>T (p.Lys26357Ter) c.105112A>T (p.Lys35038Ter) c.100510A>T (p.Lys33504Ter) c.100507A>T (p.Lys33503Ter) c.97549A>T (p.Lys32517Ter) c.79165A>T (p.Lys26389Ter) c.100660A>T (p.Lys33554Ter) c.100657A>T (p.Lys33553Ter) c.100090A>T (p.Lys33364Ter) c.97432A>T (p.Lys32478Ter) c.97351A>T (p.Lys32451Ter) c.79114A>T (p.Lys26372Ter) c.68968A>T (p.Lys22990Ter) | |
2 | g.178530396T>C | CA349406565 | TTN,TTN-AS1 | c.98515A>G (p.Lys32839Glu) c.79600A>G (p.Lys26534Glu) c.79399A>G (p.Lys26467Glu) c.79024A>G (p.Lys26342Glu) c.106219A>G (p.Lys35407Glu) c.101296A>G (p.Lys33766Glu) n.446+6760T>C n.220-5336T>C c.105316A>G (p.Lys35106Glu) c.79210A>G (p.Lys26404Glu) c.79069A>G (p.Lys26357Glu) c.105112A>G (p.Lys35038Glu) c.100510A>G (p.Lys33504Glu) c.100507A>G (p.Lys33503Glu) c.97549A>G (p.Lys32517Glu) c.79165A>G (p.Lys26389Glu) c.100660A>G (p.Lys33554Glu) c.100657A>G (p.Lys33553Glu) c.100090A>G (p.Lys33364Glu) c.97432A>G (p.Lys32478Glu) c.97351A>G (p.Lys32451Glu) c.79114A>G (p.Lys26372Glu) c.68968A>G (p.Lys22990Glu) | ClinVar dbSNP |
2 | g.178530396T>G | CA349406567 | TTN,TTN-AS1 | c.98515A>C (p.Lys32839Gln) c.79600A>C (p.Lys26534Gln) c.79399A>C (p.Lys26467Gln) c.79024A>C (p.Lys26342Gln) c.106219A>C (p.Lys35407Gln) c.101296A>C (p.Lys33766Gln) n.446+6760T>G n.220-5336T>G c.105316A>C (p.Lys35106Gln) c.79210A>C (p.Lys26404Gln) c.79069A>C (p.Lys26357Gln) c.105112A>C (p.Lys35038Gln) c.100510A>C (p.Lys33504Gln) c.100507A>C (p.Lys33503Gln) c.97549A>C (p.Lys32517Gln) c.79165A>C (p.Lys26389Gln) c.100660A>C (p.Lys33554Gln) c.100657A>C (p.Lys33553Gln) c.100090A>C (p.Lys33364Gln) c.97432A>C (p.Lys32478Gln) c.97351A>C (p.Lys32451Gln) c.79114A>C (p.Lys26372Gln) c.68968A>C (p.Lys22990Gln) | |
2 | g.178530396T= | CA1310514585 | TTN,TTN-AS1 | c.98515A= (p.Lys32839=) c.79600A= (p.Lys26534=) c.79399A= (p.Lys26467=) c.79024A= (p.Lys26342=) c.106219A= (p.Lys35407=) c.101296A= (p.Lys33766=) n.446+6760T= n.220-5336T= c.105316A= (p.Lys35106=) c.79210A= (p.Lys26404=) c.79069A= (p.Lys26357=) c.105112A= (p.Lys35038=) c.100510A= (p.Lys33504=) c.100507A= (p.Lys33503=) c.97549A= (p.Lys32517=) c.79165A= (p.Lys26389=) c.100660A= (p.Lys33554=) c.100657A= (p.Lys33553=) c.100090A= (p.Lys33364=) c.97432A= (p.Lys32478=) c.97351A= (p.Lys32451=) c.79114A= (p.Lys26372=) c.68968A= (p.Lys22990=) | |
2 | g.178530397T>A | CA349406570 | TTN,TTN-AS1 | c.98514A>T (p.Arg32838Ser) c.79599A>T (p.Arg26533Ser) c.79398A>T (p.Arg26466Ser) c.79023A>T (p.Arg26341Ser) c.106218A>T (p.Arg35406Ser) c.101295A>T (p.Arg33765Ser) n.446+6761T>A n.220-5335T>A c.105315A>T (p.Arg35105Ser) c.79209A>T (p.Arg26403Ser) c.79068A>T (p.Arg26356Ser) c.105111A>T (p.Arg35037Ser) c.100509A>T (p.Arg33503Ser) c.100506A>T (p.Arg33502Ser) c.97548A>T (p.Arg32516Ser) c.79164A>T (p.Arg26388Ser) c.100659A>T (p.Arg33553Ser) c.100656A>T (p.Arg33552Ser) c.100089A>T (p.Arg33363Ser) c.97431A>T (p.Arg32477Ser) c.97350A>T (p.Arg32450Ser) c.79113A>T (p.Arg26371Ser) c.68967A>T (p.Arg22989Ser) | |
2 | g.178530397T>C | CA430235276 | TTN,TTN-AS1 | c.98514A>G (p.Arg32838=) c.79599A>G (p.Arg26533=) c.79398A>G (p.Arg26466=) c.79023A>G (p.Arg26341=) c.106218A>G (p.Arg35406=) c.101295A>G (p.Arg33765=) n.446+6761T>C n.220-5335T>C c.105315A>G (p.Arg35105=) c.79209A>G (p.Arg26403=) c.79068A>G (p.Arg26356=) c.105111A>G (p.Arg35037=) c.100509A>G (p.Arg33503=) c.100506A>G (p.Arg33502=) c.97548A>G (p.Arg32516=) c.79164A>G (p.Arg26388=) c.100659A>G (p.Arg33553=) c.100656A>G (p.Arg33552=) c.100089A>G (p.Arg33363=) c.97431A>G (p.Arg32477=) c.97350A>G (p.Arg32450=) c.79113A>G (p.Arg26371=) c.68967A>G (p.Arg22989=) | |
2 | g.178530397T>G | CA349406571 | TTN,TTN-AS1 | c.98514A>C (p.Arg32838Ser) c.79599A>C (p.Arg26533Ser) c.79398A>C (p.Arg26466Ser) c.79023A>C (p.Arg26341Ser) c.106218A>C (p.Arg35406Ser) c.101295A>C (p.Arg33765Ser) n.446+6761T>G n.220-5335T>G c.105315A>C (p.Arg35105Ser) c.79209A>C (p.Arg26403Ser) c.79068A>C (p.Arg26356Ser) c.105111A>C (p.Arg35037Ser) c.100509A>C (p.Arg33503Ser) c.100506A>C (p.Arg33502Ser) c.97548A>C (p.Arg32516Ser) c.79164A>C (p.Arg26388Ser) c.100659A>C (p.Arg33553Ser) c.100656A>C (p.Arg33552Ser) c.100089A>C (p.Arg33363Ser) c.97431A>C (p.Arg32477Ser) c.97350A>C (p.Arg32450Ser) c.79113A>C (p.Arg26371Ser) c.68967A>C (p.Arg22989Ser) | |
2 | g.178530398del | CA2753330745 | TTN,TTN-AS1 | c.98513del (p.Arg32838LysfsTer16) c.79598del (p.Arg26533LysfsTer16) c.79397del (p.Arg26466LysfsTer16) c.79022del (p.Arg26341LysfsTer16) c.106217del (p.Arg35406LysfsTer16) c.101294del (p.Arg33765LysfsTer16) n.446+6762del n.220-5334del c.105314del (p.Arg35105LysfsTer16) c.79208del (p.Arg26403LysfsTer16) c.79067del (p.Arg26356LysfsTer16) c.105110del (p.Arg35037LysfsTer16) c.100508del (p.Arg33503LysfsTer16) c.100505del (p.Arg33502LysfsTer16) c.97547del (p.Arg32516LysfsTer16) c.79163del (p.Arg26388LysfsTer16) c.100658del (p.Arg33553LysfsTer16) c.100655del (p.Arg33552LysfsTer16) c.100088del (p.Arg33363LysfsTer16) c.97430del (p.Arg32477LysfsTer16) c.97349del (p.Arg32450LysfsTer16) c.79112del (p.Arg26371LysfsTer16) c.68966del (p.Arg22989LysfsTer16) | |
2 | g.178530398C>A | CA349406578 | TTN,TTN-AS1 | c.98513G>T (p.Arg32838Ile) c.79598G>T (p.Arg26533Ile) c.79397G>T (p.Arg26466Ile) c.79022G>T (p.Arg26341Ile) c.106217G>T (p.Arg35406Ile) c.101294G>T (p.Arg33765Ile) n.446+6762C>A n.220-5334C>A c.105314G>T (p.Arg35105Ile) c.79208G>T (p.Arg26403Ile) c.79067G>T (p.Arg26356Ile) c.105110G>T (p.Arg35037Ile) c.100508G>T (p.Arg33503Ile) c.100505G>T (p.Arg33502Ile) c.97547G>T (p.Arg32516Ile) c.79163G>T (p.Arg26388Ile) c.100658G>T (p.Arg33553Ile) c.100655G>T (p.Arg33552Ile) c.100088G>T (p.Arg33363Ile) c.97430G>T (p.Arg32477Ile) c.97349G>T (p.Arg32450Ile) c.79112G>T (p.Arg26371Ile) c.68966G>T (p.Arg22989Ile) | |
2 | g.178530398C= | CA1310514588 | TTN,TTN-AS1 | c.98513G= (p.Arg32838=) c.79598G= (p.Arg26533=) c.79397G= (p.Arg26466=) c.79022G= (p.Arg26341=) c.106217G= (p.Arg35406=) c.101294G= (p.Arg33765=) n.446+6762C= n.220-5334C= c.105314G= (p.Arg35105=) c.79208G= (p.Arg26403=) c.79067G= (p.Arg26356=) c.105110G= (p.Arg35037=) c.100508G= (p.Arg33503=) c.100505G= (p.Arg33502=) c.97547G= (p.Arg32516=) c.79163G= (p.Arg26388=) c.100658G= (p.Arg33553=) c.100655G= (p.Arg33552=) c.100088G= (p.Arg33363=) c.97430G= (p.Arg32477=) c.97349G= (p.Arg32450=) c.79112G= (p.Arg26371=) c.68966G= (p.Arg22989=) | |
2 | g.178530398C>G | CA1985143 | TTN,TTN-AS1 | c.98513G>C (p.Arg32838Thr) c.79598G>C (p.Arg26533Thr) c.79397G>C (p.Arg26466Thr) c.79022G>C (p.Arg26341Thr) c.106217G>C (p.Arg35406Thr) c.101294G>C (p.Arg33765Thr) n.446+6762C>G n.220-5334C>G c.105314G>C (p.Arg35105Thr) c.79208G>C (p.Arg26403Thr) c.79067G>C (p.Arg26356Thr) c.105110G>C (p.Arg35037Thr) c.100508G>C (p.Arg33503Thr) c.100505G>C (p.Arg33502Thr) c.97547G>C (p.Arg32516Thr) c.79163G>C (p.Arg26388Thr) c.100658G>C (p.Arg33553Thr) c.100655G>C (p.Arg33552Thr) c.100088G>C (p.Arg33363Thr) c.97430G>C (p.Arg32477Thr) c.97349G>C (p.Arg32450Thr) c.79112G>C (p.Arg26371Thr) c.68966G>C (p.Arg22989Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178530398C>T | CA1985144 | TTN,TTN-AS1 | c.98513G>A (p.Arg32838Lys) c.79598G>A (p.Arg26533Lys) c.79397G>A (p.Arg26466Lys) c.79022G>A (p.Arg26341Lys) c.106217G>A (p.Arg35406Lys) c.101294G>A (p.Arg33765Lys) n.446+6762C>T n.220-5334C>T c.105314G>A (p.Arg35105Lys) c.79208G>A (p.Arg26403Lys) c.79067G>A (p.Arg26356Lys) c.105110G>A (p.Arg35037Lys) c.100508G>A (p.Arg33503Lys) c.100505G>A (p.Arg33502Lys) c.97547G>A (p.Arg32516Lys) c.79163G>A (p.Arg26388Lys) c.100658G>A (p.Arg33553Lys) c.100655G>A (p.Arg33552Lys) c.100088G>A (p.Arg33363Lys) c.97430G>A (p.Arg32477Lys) c.97349G>A (p.Arg32450Lys) c.79112G>A (p.Arg26371Lys) c.68966G>A (p.Arg22989Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178530399T>A | CA349406580 | TTN,TTN-AS1 | c.98512A>T (p.Arg32838Ter) c.79597A>T (p.Arg26533Ter) c.79396A>T (p.Arg26466Ter) c.79021A>T (p.Arg26341Ter) c.106216A>T (p.Arg35406Ter) c.101293A>T (p.Arg33765Ter) n.446+6763T>A n.220-5333T>A c.105313A>T (p.Arg35105Ter) c.79207A>T (p.Arg26403Ter) c.79066A>T (p.Arg26356Ter) c.105109A>T (p.Arg35037Ter) c.100507A>T (p.Arg33503Ter) c.100504A>T (p.Arg33502Ter) c.97546A>T (p.Arg32516Ter) c.79162A>T (p.Arg26388Ter) c.100657A>T (p.Arg33553Ter) c.100654A>T (p.Arg33552Ter) c.100087A>T (p.Arg33363Ter) c.97429A>T (p.Arg32477Ter) c.97348A>T (p.Arg32450Ter) c.79111A>T (p.Arg26371Ter) c.68965A>T (p.Arg22989Ter) | |
2 | g.178530399T>C | CA349406582 | TTN,TTN-AS1 | c.98512A>G (p.Arg32838Gly) c.79597A>G (p.Arg26533Gly) c.79396A>G (p.Arg26466Gly) c.79021A>G (p.Arg26341Gly) c.106216A>G (p.Arg35406Gly) c.101293A>G (p.Arg33765Gly) n.446+6763T>C n.220-5333T>C c.105313A>G (p.Arg35105Gly) c.79207A>G (p.Arg26403Gly) c.79066A>G (p.Arg26356Gly) c.105109A>G (p.Arg35037Gly) c.100507A>G (p.Arg33503Gly) c.100504A>G (p.Arg33502Gly) c.97546A>G (p.Arg32516Gly) c.79162A>G (p.Arg26388Gly) c.100657A>G (p.Arg33553Gly) c.100654A>G (p.Arg33552Gly) c.100087A>G (p.Arg33363Gly) c.97429A>G (p.Arg32477Gly) c.97348A>G (p.Arg32450Gly) c.79111A>G (p.Arg26371Gly) c.68965A>G (p.Arg22989Gly) | |
2 | g.178530399T>G | CA430235279 | TTN,TTN-AS1 | c.98512A>C (p.Arg32838=) c.79597A>C (p.Arg26533=) c.79396A>C (p.Arg26466=) c.79021A>C (p.Arg26341=) c.106216A>C (p.Arg35406=) c.101293A>C (p.Arg33765=) n.446+6763T>G n.220-5333T>G c.105313A>C (p.Arg35105=) c.79207A>C (p.Arg26403=) c.79066A>C (p.Arg26356=) c.105109A>C (p.Arg35037=) c.100507A>C (p.Arg33503=) c.100504A>C (p.Arg33502=) c.97546A>C (p.Arg32516=) c.79162A>C (p.Arg26388=) c.100657A>C (p.Arg33553=) c.100654A>C (p.Arg33552=) c.100087A>C (p.Arg33363=) c.97429A>C (p.Arg32477=) c.97348A>C (p.Arg32450=) c.79111A>C (p.Arg26371=) c.68965A>C (p.Arg22989=) | ClinVar dbSNP gnomAD v4 |
2 | g.178530399T= | CA1310514590 | TTN,TTN-AS1 | c.98512A= (p.Arg32838=) c.79597A= (p.Arg26533=) c.79396A= (p.Arg26466=) c.79021A= (p.Arg26341=) c.106216A= (p.Arg35406=) c.101293A= (p.Arg33765=) n.446+6763T= n.220-5333T= c.105313A= (p.Arg35105=) c.79207A= (p.Arg26403=) c.79066A= (p.Arg26356=) c.105109A= (p.Arg35037=) c.100507A= (p.Arg33503=) c.100504A= (p.Arg33502=) c.97546A= (p.Arg32516=) c.79162A= (p.Arg26388=) c.100657A= (p.Arg33553=) c.100654A= (p.Arg33552=) c.100087A= (p.Arg33363=) c.97429A= (p.Arg32477=) c.97348A= (p.Arg32450=) c.79111A= (p.Arg26371=) c.68965A= (p.Arg22989=) | |
2 | g.178530400G>A | CA10587441 | TTN,TTN-AS1 | c.98511C>T (p.Thr32837=) c.79596C>T (p.Thr26532=) c.79395C>T (p.Thr26465=) c.79020C>T (p.Thr26340=) c.106215C>T (p.Thr35405=) c.101292C>T (p.Thr33764=) n.446+6764G>A n.220-5332G>A c.105312C>T (p.Thr35104=) c.79206C>T (p.Thr26402=) c.79065C>T (p.Thr26355=) c.105108C>T (p.Thr35036=) c.100506C>T (p.Thr33502=) c.100503C>T (p.Thr33501=) c.97545C>T (p.Thr32515=) c.79161C>T (p.Thr26387=) c.100656C>T (p.Thr33552=) c.100653C>T (p.Thr33551=) c.100086C>T (p.Thr33362=) c.97428C>T (p.Thr32476=) c.97347C>T (p.Thr32449=) c.79110C>T (p.Thr26370=) c.68964C>T (p.Thr22988=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.178530400G>C | CA430235282 | TTN,TTN-AS1 | c.98511C>G (p.Thr32837=) c.79596C>G (p.Thr26532=) c.79395C>G (p.Thr26465=) c.79020C>G (p.Thr26340=) c.106215C>G (p.Thr35405=) c.101292C>G (p.Thr33764=) n.446+6764G>C n.220-5332G>C c.105312C>G (p.Thr35104=) c.79206C>G (p.Thr26402=) c.79065C>G (p.Thr26355=) c.105108C>G (p.Thr35036=) c.100506C>G (p.Thr33502=) c.100503C>G (p.Thr33501=) c.97545C>G (p.Thr32515=) c.79161C>G (p.Thr26387=) c.100656C>G (p.Thr33552=) c.100653C>G (p.Thr33551=) c.100086C>G (p.Thr33362=) c.97428C>G (p.Thr32476=) c.97347C>G (p.Thr32449=) c.79110C>G (p.Thr26370=) c.68964C>G (p.Thr22988=) | |
2 | g.178530400G= | CA1310514592 | TTN,TTN-AS1 | c.98511C= (p.Thr32837=) c.79596C= (p.Thr26532=) c.79395C= (p.Thr26465=) c.79020C= (p.Thr26340=) c.106215C= (p.Thr35405=) c.101292C= (p.Thr33764=) n.446+6764G= n.220-5332G= c.105312C= (p.Thr35104=) c.79206C= (p.Thr26402=) c.79065C= (p.Thr26355=) c.105108C= (p.Thr35036=) c.100506C= (p.Thr33502=) c.100503C= (p.Thr33501=) c.97545C= (p.Thr32515=) c.79161C= (p.Thr26387=) c.100656C= (p.Thr33552=) c.100653C= (p.Thr33551=) c.100086C= (p.Thr33362=) c.97428C= (p.Thr32476=) c.97347C= (p.Thr32449=) c.79110C= (p.Thr26370=) c.68964C= (p.Thr22988=) | |
2 | g.178530400G>T | CA430235280 | TTN,TTN-AS1 | c.98511C>A (p.Thr32837=) c.79596C>A (p.Thr26532=) c.79395C>A (p.Thr26465=) c.79020C>A (p.Thr26340=) c.106215C>A (p.Thr35405=) c.101292C>A (p.Thr33764=) n.446+6764G>T n.220-5332G>T c.105312C>A (p.Thr35104=) c.79206C>A (p.Thr26402=) c.79065C>A (p.Thr26355=) c.105108C>A (p.Thr35036=) c.100506C>A (p.Thr33502=) c.100503C>A (p.Thr33501=) c.97545C>A (p.Thr32515=) c.79161C>A (p.Thr26387=) c.100656C>A (p.Thr33552=) c.100653C>A (p.Thr33551=) c.100086C>A (p.Thr33362=) c.97428C>A (p.Thr32476=) c.97347C>A (p.Thr32449=) c.79110C>A (p.Thr26370=) c.68964C>A (p.Thr22988=) | |
2 | g.178530401G>A | CA349406586 | TTN,TTN-AS1 | c.98510C>T (p.Thr32837Ile) c.79595C>T (p.Thr26532Ile) c.79394C>T (p.Thr26465Ile) c.79019C>T (p.Thr26340Ile) c.106214C>T (p.Thr35405Ile) c.101291C>T (p.Thr33764Ile) n.446+6765G>A n.220-5331G>A c.105311C>T (p.Thr35104Ile) c.79205C>T (p.Thr26402Ile) c.79064C>T (p.Thr26355Ile) c.105107C>T (p.Thr35036Ile) c.100505C>T (p.Thr33502Ile) c.100502C>T (p.Thr33501Ile) c.97544C>T (p.Thr32515Ile) c.79160C>T (p.Thr26387Ile) c.100655C>T (p.Thr33552Ile) c.100652C>T (p.Thr33551Ile) c.100085C>T (p.Thr33362Ile) c.97427C>T (p.Thr32476Ile) c.97346C>T (p.Thr32449Ile) c.79109C>T (p.Thr26370Ile) c.68963C>T (p.Thr22988Ile) | |
2 | g.178530401G>C | CA349406588 | TTN,TTN-AS1 | c.98510C>G (p.Thr32837Ser) c.79595C>G (p.Thr26532Ser) c.79394C>G (p.Thr26465Ser) c.79019C>G (p.Thr26340Ser) c.106214C>G (p.Thr35405Ser) c.101291C>G (p.Thr33764Ser) n.446+6765G>C n.220-5331G>C c.105311C>G (p.Thr35104Ser) c.79205C>G (p.Thr26402Ser) c.79064C>G (p.Thr26355Ser) c.105107C>G (p.Thr35036Ser) c.100505C>G (p.Thr33502Ser) c.100502C>G (p.Thr33501Ser) c.97544C>G (p.Thr32515Ser) c.79160C>G (p.Thr26387Ser) c.100655C>G (p.Thr33552Ser) c.100652C>G (p.Thr33551Ser) c.100085C>G (p.Thr33362Ser) c.97427C>G (p.Thr32476Ser) c.97346C>G (p.Thr32449Ser) c.79109C>G (p.Thr26370Ser) c.68963C>G (p.Thr22988Ser) | ClinVar dbSNP gnomAD v4 |
2 | g.178530401G= | CA1310514595 | TTN,TTN-AS1 | c.98510C= (p.Thr32837=) c.79595C= (p.Thr26532=) c.79394C= (p.Thr26465=) c.79019C= (p.Thr26340=) c.106214C= (p.Thr35405=) c.101291C= (p.Thr33764=) n.446+6765G= n.220-5331G= c.105311C= (p.Thr35104=) c.79205C= (p.Thr26402=) c.79064C= (p.Thr26355=) c.105107C= (p.Thr35036=) c.100505C= (p.Thr33502=) c.100502C= (p.Thr33501=) c.97544C= (p.Thr32515=) c.79160C= (p.Thr26387=) c.100655C= (p.Thr33552=) c.100652C= (p.Thr33551=) c.100085C= (p.Thr33362=) c.97427C= (p.Thr32476=) c.97346C= (p.Thr32449=) c.79109C= (p.Thr26370=) c.68963C= (p.Thr22988=) | |
2 | g.178530401G>T | CA349406593 | TTN,TTN-AS1 | c.98510C>A (p.Thr32837Asn) c.79595C>A (p.Thr26532Asn) c.79394C>A (p.Thr26465Asn) c.79019C>A (p.Thr26340Asn) c.106214C>A (p.Thr35405Asn) c.101291C>A (p.Thr33764Asn) n.446+6765G>T n.220-5331G>T c.105311C>A (p.Thr35104Asn) c.79205C>A (p.Thr26402Asn) c.79064C>A (p.Thr26355Asn) c.105107C>A (p.Thr35036Asn) c.100505C>A (p.Thr33502Asn) c.100502C>A (p.Thr33501Asn) c.97544C>A (p.Thr32515Asn) c.79160C>A (p.Thr26387Asn) c.100655C>A (p.Thr33552Asn) c.100652C>A (p.Thr33551Asn) c.100085C>A (p.Thr33362Asn) c.97427C>A (p.Thr32476Asn) c.97346C>A (p.Thr32449Asn) c.79109C>A (p.Thr26370Asn) c.68963C>A (p.Thr22988Asn) | |
2 | g.178530402T>A | CA349406595 | TTN,TTN-AS1 | c.98509A>T (p.Thr32837Ser) c.79594A>T (p.Thr26532Ser) c.79393A>T (p.Thr26465Ser) c.79018A>T (p.Thr26340Ser) c.106213A>T (p.Thr35405Ser) c.101290A>T (p.Thr33764Ser) n.446+6766T>A n.220-5330T>A c.105310A>T (p.Thr35104Ser) c.79204A>T (p.Thr26402Ser) c.79063A>T (p.Thr26355Ser) c.105106A>T (p.Thr35036Ser) c.100504A>T (p.Thr33502Ser) c.100501A>T (p.Thr33501Ser) c.97543A>T (p.Thr32515Ser) c.79159A>T (p.Thr26387Ser) c.100654A>T (p.Thr33552Ser) c.100651A>T (p.Thr33551Ser) c.100084A>T (p.Thr33362Ser) c.97426A>T (p.Thr32476Ser) c.97345A>T (p.Thr32449Ser) c.79108A>T (p.Thr26370Ser) c.68962A>T (p.Thr22988Ser) | |
2 | g.178530402T>C | CA349406598 | TTN,TTN-AS1 | c.98509A>G (p.Thr32837Ala) c.79594A>G (p.Thr26532Ala) c.79393A>G (p.Thr26465Ala) c.79018A>G (p.Thr26340Ala) c.106213A>G (p.Thr35405Ala) c.101290A>G (p.Thr33764Ala) n.446+6766T>C n.220-5330T>C c.105310A>G (p.Thr35104Ala) c.79204A>G (p.Thr26402Ala) c.79063A>G (p.Thr26355Ala) c.105106A>G (p.Thr35036Ala) c.100504A>G (p.Thr33502Ala) c.100501A>G (p.Thr33501Ala) c.97543A>G (p.Thr32515Ala) c.79159A>G (p.Thr26387Ala) c.100654A>G (p.Thr33552Ala) c.100651A>G (p.Thr33551Ala) c.100084A>G (p.Thr33362Ala) c.97426A>G (p.Thr32476Ala) c.97345A>G (p.Thr32449Ala) c.79108A>G (p.Thr26370Ala) c.68962A>G (p.Thr22988Ala) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.178530402T>G | CA1985145 | TTN,TTN-AS1 | c.98509A>C (p.Thr32837Pro) c.79594A>C (p.Thr26532Pro) c.79393A>C (p.Thr26465Pro) c.79018A>C (p.Thr26340Pro) c.106213A>C (p.Thr35405Pro) c.101290A>C (p.Thr33764Pro) n.446+6766T>G n.220-5330T>G c.105310A>C (p.Thr35104Pro) c.79204A>C (p.Thr26402Pro) c.79063A>C (p.Thr26355Pro) c.105106A>C (p.Thr35036Pro) c.100504A>C (p.Thr33502Pro) c.100501A>C (p.Thr33501Pro) c.97543A>C (p.Thr32515Pro) c.79159A>C (p.Thr26387Pro) c.100654A>C (p.Thr33552Pro) c.100651A>C (p.Thr33551Pro) c.100084A>C (p.Thr33362Pro) c.97426A>C (p.Thr32476Pro) c.97345A>C (p.Thr32449Pro) c.79108A>C (p.Thr26370Pro) c.68962A>C (p.Thr22988Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178530402T= | CA1310514598 | TTN,TTN-AS1 | c.98509A= (p.Thr32837=) c.79594A= (p.Thr26532=) c.79393A= (p.Thr26465=) c.79018A= (p.Thr26340=) c.106213A= (p.Thr35405=) c.101290A= (p.Thr33764=) n.446+6766T= n.220-5330T= c.105310A= (p.Thr35104=) c.79204A= (p.Thr26402=) c.79063A= (p.Thr26355=) c.105106A= (p.Thr35036=) c.100504A= (p.Thr33502=) c.100501A= (p.Thr33501=) c.97543A= (p.Thr32515=) c.79159A= (p.Thr26387=) c.100654A= (p.Thr33552=) c.100651A= (p.Thr33551=) c.100084A= (p.Thr33362=) c.97426A= (p.Thr32476=) c.97345A= (p.Thr32449=) c.79108A= (p.Thr26370=) c.68962A= (p.Thr22988=) | |
2 | g.178530403T>A | CA430235283 | TTN,TTN-AS1 | c.98508A>T (p.Val32836=) c.79593A>T (p.Val26531=) c.79392A>T (p.Val26464=) c.79017A>T (p.Val26339=) c.106212A>T (p.Val35404=) c.101289A>T (p.Val33763=) n.446+6767T>A n.220-5329T>A c.105309A>T (p.Val35103=) c.79203A>T (p.Val26401=) c.79062A>T (p.Val26354=) c.105105A>T (p.Val35035=) c.100503A>T (p.Val33501=) c.100500A>T (p.Val33500=) c.97542A>T (p.Val32514=) c.79158A>T (p.Val26386=) c.100653A>T (p.Val33551=) c.100650A>T (p.Val33550=) c.100083A>T (p.Val33361=) c.97425A>T (p.Val32475=) c.97344A>T (p.Val32448=) c.79107A>T (p.Val26369=) c.68961A>T (p.Val22987=) | |
2 | g.178530403T>C | CA430235284 | TTN,TTN-AS1 | c.98508A>G (p.Val32836=) c.79593A>G (p.Val26531=) c.79392A>G (p.Val26464=) c.79017A>G (p.Val26339=) c.106212A>G (p.Val35404=) c.101289A>G (p.Val33763=) n.446+6767T>C n.220-5329T>C c.105309A>G (p.Val35103=) c.79203A>G (p.Val26401=) c.79062A>G (p.Val26354=) c.105105A>G (p.Val35035=) c.100503A>G (p.Val33501=) c.100500A>G (p.Val33500=) c.97542A>G (p.Val32514=) c.79158A>G (p.Val26386=) c.100653A>G (p.Val33551=) c.100650A>G (p.Val33550=) c.100083A>G (p.Val33361=) c.97425A>G (p.Val32475=) c.97344A>G (p.Val32448=) c.79107A>G (p.Val26369=) c.68961A>G (p.Val22987=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178530403T>G | CA430235286 | TTN,TTN-AS1 | c.98508A>C (p.Val32836=) c.79593A>C (p.Val26531=) c.79392A>C (p.Val26464=) c.79017A>C (p.Val26339=) c.106212A>C (p.Val35404=) c.101289A>C (p.Val33763=) n.446+6767T>G n.220-5329T>G c.105309A>C (p.Val35103=) c.79203A>C (p.Val26401=) c.79062A>C (p.Val26354=) c.105105A>C (p.Val35035=) c.100503A>C (p.Val33501=) c.100500A>C (p.Val33500=) c.97542A>C (p.Val32514=) c.79158A>C (p.Val26386=) c.100653A>C (p.Val33551=) c.100650A>C (p.Val33550=) c.100083A>C (p.Val33361=) c.97425A>C (p.Val32475=) c.97344A>C (p.Val32448=) c.79107A>C (p.Val26369=) c.68961A>C (p.Val22987=) | ClinVar dbSNP |
2 | g.178530403T= | CA1310514599 | TTN,TTN-AS1 | c.98508A= (p.Val32836=) c.79593A= (p.Val26531=) c.79392A= (p.Val26464=) c.79017A= (p.Val26339=) c.106212A= (p.Val35404=) c.101289A= (p.Val33763=) n.446+6767T= n.220-5329T= c.105309A= (p.Val35103=) c.79203A= (p.Val26401=) c.79062A= (p.Val26354=) c.105105A= (p.Val35035=) c.100503A= (p.Val33501=) c.100500A= (p.Val33500=) c.97542A= (p.Val32514=) c.79158A= (p.Val26386=) c.100653A= (p.Val33551=) c.100650A= (p.Val33550=) c.100083A= (p.Val33361=) c.97425A= (p.Val32475=) c.97344A= (p.Val32448=) c.79107A= (p.Val26369=) c.68961A= (p.Val22987=) | |
2 | g.178530404A= | CA1310514601 | TTN,TTN-AS1 | c.98507T= (p.Val32836=) c.79592T= (p.Val26531=) c.79391T= (p.Val26464=) c.79016T= (p.Val26339=) c.106211T= (p.Val35404=) c.101288T= (p.Val33763=) n.446+6768A= n.220-5328A= c.105308T= (p.Val35103=) c.79202T= (p.Val26401=) c.79061T= (p.Val26354=) c.105104T= (p.Val35035=) c.100502T= (p.Val33501=) c.100499T= (p.Val33500=) c.97541T= (p.Val32514=) c.79157T= (p.Val26386=) c.100652T= (p.Val33551=) c.100649T= (p.Val33550=) c.100082T= (p.Val33361=) c.97424T= (p.Val32475=) c.97343T= (p.Val32448=) c.79106T= (p.Val26369=) c.68960T= (p.Val22987=) | |
2 | g.178530404A>C | CA349406599 | TTN,TTN-AS1 | c.98507T>G (p.Val32836Gly) c.79592T>G (p.Val26531Gly) c.79391T>G (p.Val26464Gly) c.79016T>G (p.Val26339Gly) c.106211T>G (p.Val35404Gly) c.101288T>G (p.Val33763Gly) n.446+6768A>C n.220-5328A>C c.105308T>G (p.Val35103Gly) c.79202T>G (p.Val26401Gly) c.79061T>G (p.Val26354Gly) c.105104T>G (p.Val35035Gly) c.100502T>G (p.Val33501Gly) c.100499T>G (p.Val33500Gly) c.97541T>G (p.Val32514Gly) c.79157T>G (p.Val26386Gly) c.100652T>G (p.Val33551Gly) c.100649T>G (p.Val33550Gly) c.100082T>G (p.Val33361Gly) c.97424T>G (p.Val32475Gly) c.97343T>G (p.Val32448Gly) c.79106T>G (p.Val26369Gly) c.68960T>G (p.Val22987Gly) | |
2 | g.178530404A>G | CA349406600 | TTN,TTN-AS1 | c.98507T>C (p.Val32836Ala) c.79592T>C (p.Val26531Ala) c.79391T>C (p.Val26464Ala) c.79016T>C (p.Val26339Ala) c.106211T>C (p.Val35404Ala) c.101288T>C (p.Val33763Ala) n.446+6768A>G n.220-5328A>G c.105308T>C (p.Val35103Ala) c.79202T>C (p.Val26401Ala) c.79061T>C (p.Val26354Ala) c.105104T>C (p.Val35035Ala) c.100502T>C (p.Val33501Ala) c.100499T>C (p.Val33500Ala) c.97541T>C (p.Val32514Ala) c.79157T>C (p.Val26386Ala) c.100652T>C (p.Val33551Ala) c.100649T>C (p.Val33550Ala) c.100082T>C (p.Val33361Ala) c.97424T>C (p.Val32475Ala) c.97343T>C (p.Val32448Ala) c.79106T>C (p.Val26369Ala) c.68960T>C (p.Val22987Ala) | ClinVar dbSNP gnomAD v4 |
2 | g.178530404A>T | CA349406601 | TTN,TTN-AS1 | c.98507T>A (p.Val32836Glu) c.79592T>A (p.Val26531Glu) c.79391T>A (p.Val26464Glu) c.79016T>A (p.Val26339Glu) c.106211T>A (p.Val35404Glu) c.101288T>A (p.Val33763Glu) n.446+6768A>T n.220-5328A>T c.105308T>A (p.Val35103Glu) c.79202T>A (p.Val26401Glu) c.79061T>A (p.Val26354Glu) c.105104T>A (p.Val35035Glu) c.100502T>A (p.Val33501Glu) c.100499T>A (p.Val33500Glu) c.97541T>A (p.Val32514Glu) c.79157T>A (p.Val26386Glu) c.100652T>A (p.Val33551Glu) c.100649T>A (p.Val33550Glu) c.100082T>A (p.Val33361Glu) c.97424T>A (p.Val32475Glu) c.97343T>A (p.Val32448Glu) c.79106T>A (p.Val26369Glu) c.68960T>A (p.Val22987Glu) | dbSNP |
2 | g.178530405C>A | CA349406602 | TTN,TTN-AS1 | c.98506G>T (p.Val32836Leu) c.79591G>T (p.Val26531Leu) c.79390G>T (p.Val26464Leu) c.79015G>T (p.Val26339Leu) c.106210G>T (p.Val35404Leu) c.101287G>T (p.Val33763Leu) n.446+6769C>A n.220-5327C>A c.105307G>T (p.Val35103Leu) c.79201G>T (p.Val26401Leu) c.79060G>T (p.Val26354Leu) c.105103G>T (p.Val35035Leu) c.100501G>T (p.Val33501Leu) c.100498G>T (p.Val33500Leu) c.97540G>T (p.Val32514Leu) c.79156G>T (p.Val26386Leu) c.100651G>T (p.Val33551Leu) c.100648G>T (p.Val33550Leu) c.100081G>T (p.Val33361Leu) c.97423G>T (p.Val32475Leu) c.97342G>T (p.Val32448Leu) c.79105G>T (p.Val26369Leu) c.68959G>T (p.Val22987Leu) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.178530405C= | CA1310514603 | TTN,TTN-AS1 | c.98506G= (p.Val32836=) c.79591G= (p.Val26531=) c.79390G= (p.Val26464=) c.79015G= (p.Val26339=) c.106210G= (p.Val35404=) c.101287G= (p.Val33763=) n.446+6769C= n.220-5327C= c.105307G= (p.Val35103=) c.79201G= (p.Val26401=) c.79060G= (p.Val26354=) c.105103G= (p.Val35035=) c.100501G= (p.Val33501=) c.100498G= (p.Val33500=) c.97540G= (p.Val32514=) c.79156G= (p.Val26386=) c.100651G= (p.Val33551=) c.100648G= (p.Val33550=) c.100081G= (p.Val33361=) c.97423G= (p.Val32475=) c.97342G= (p.Val32448=) c.79105G= (p.Val26369=) c.68959G= (p.Val22987=) | |
2 | g.178530405C>G | CA349406603 | TTN,TTN-AS1 | c.98506G>C (p.Val32836Leu) c.79591G>C (p.Val26531Leu) c.79390G>C (p.Val26464Leu) c.79015G>C (p.Val26339Leu) c.106210G>C (p.Val35404Leu) c.101287G>C (p.Val33763Leu) n.446+6769C>G n.220-5327C>G c.105307G>C (p.Val35103Leu) c.79201G>C (p.Val26401Leu) c.79060G>C (p.Val26354Leu) c.105103G>C (p.Val35035Leu) c.100501G>C (p.Val33501Leu) c.100498G>C (p.Val33500Leu) c.97540G>C (p.Val32514Leu) c.79156G>C (p.Val26386Leu) c.100651G>C (p.Val33551Leu) c.100648G>C (p.Val33550Leu) c.100081G>C (p.Val33361Leu) c.97423G>C (p.Val32475Leu) c.97342G>C (p.Val32448Leu) c.79105G>C (p.Val26369Leu) c.68959G>C (p.Val22987Leu) | |
2 | g.178530405C>T | CA1985146 | TTN,TTN-AS1 | c.98506G>A (p.Val32836Ile) c.79591G>A (p.Val26531Ile) c.79390G>A (p.Val26464Ile) c.79015G>A (p.Val26339Ile) c.106210G>A (p.Val35404Ile) c.101287G>A (p.Val33763Ile) n.446+6769C>T n.220-5327C>T c.105307G>A (p.Val35103Ile) c.79201G>A (p.Val26401Ile) c.79060G>A (p.Val26354Ile) c.105103G>A (p.Val35035Ile) c.100501G>A (p.Val33501Ile) c.100498G>A (p.Val33500Ile) c.97540G>A (p.Val32514Ile) c.79156G>A (p.Val26386Ile) c.100651G>A (p.Val33551Ile) c.100648G>A (p.Val33550Ile) c.100081G>A (p.Val33361Ile) c.97423G>A (p.Val32475Ile) c.97342G>A (p.Val32448Ile) c.79105G>A (p.Val26369Ile) c.68959G>A (p.Val22987Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178530406T>A | CA430235288 | TTN,TTN-AS1 | c.98505A>T (p.Thr32835=) c.79590A>T (p.Thr26530=) c.79389A>T (p.Thr26463=) c.79014A>T (p.Thr26338=) c.106209A>T (p.Thr35403=) c.101286A>T (p.Thr33762=) n.446+6770T>A n.220-5326T>A c.105306A>T (p.Thr35102=) c.79200A>T (p.Thr26400=) c.79059A>T (p.Thr26353=) c.105102A>T (p.Thr35034=) c.100500A>T (p.Thr33500=) c.100497A>T (p.Thr33499=) c.97539A>T (p.Thr32513=) c.79155A>T (p.Thr26385=) c.100650A>T (p.Thr33550=) c.100647A>T (p.Thr33549=) c.100080A>T (p.Thr33360=) c.97422A>T (p.Thr32474=) c.97341A>T (p.Thr32447=) c.79104A>T (p.Thr26368=) c.68958A>T (p.Thr22986=) | |
2 | g.178530406T>C | CA430235290 | TTN,TTN-AS1 | c.98505A>G (p.Thr32835=) c.79590A>G (p.Thr26530=) c.79389A>G (p.Thr26463=) c.79014A>G (p.Thr26338=) c.106209A>G (p.Thr35403=) c.101286A>G (p.Thr33762=) n.446+6770T>C n.220-5326T>C c.105306A>G (p.Thr35102=) c.79200A>G (p.Thr26400=) c.79059A>G (p.Thr26353=) c.105102A>G (p.Thr35034=) c.100500A>G (p.Thr33500=) c.100497A>G (p.Thr33499=) c.97539A>G (p.Thr32513=) c.79155A>G (p.Thr26385=) c.100650A>G (p.Thr33550=) c.100647A>G (p.Thr33549=) c.100080A>G (p.Thr33360=) c.97422A>G (p.Thr32474=) c.97341A>G (p.Thr32447=) c.79104A>G (p.Thr26368=) c.68958A>G (p.Thr22986=) | gnomAD v4 |
2 | g.178530406T>G | CA430235291 | TTN,TTN-AS1 | c.98505A>C (p.Thr32835=) c.79590A>C (p.Thr26530=) c.79389A>C (p.Thr26463=) c.79014A>C (p.Thr26338=) c.106209A>C (p.Thr35403=) c.101286A>C (p.Thr33762=) n.446+6770T>G n.220-5326T>G c.105306A>C (p.Thr35102=) c.79200A>C (p.Thr26400=) c.79059A>C (p.Thr26353=) c.105102A>C (p.Thr35034=) c.100500A>C (p.Thr33500=) c.100497A>C (p.Thr33499=) c.97539A>C (p.Thr32513=) c.79155A>C (p.Thr26385=) c.100650A>C (p.Thr33550=) c.100647A>C (p.Thr33549=) c.100080A>C (p.Thr33360=) c.97422A>C (p.Thr32474=) c.97341A>C (p.Thr32447=) c.79104A>C (p.Thr26368=) c.68958A>C (p.Thr22986=) | |
2 | g.178530406dup | CA2586970736 | TTN,TTN-AS1 | c.98505dup (p.Val32836SerfsTer6) c.79590dup (p.Val26531SerfsTer6) c.79389dup (p.Val26464SerfsTer6) c.79014dup (p.Val26339SerfsTer6) c.106209dup (p.Val35404SerfsTer6) c.101286dup (p.Val33763SerfsTer6) n.446+6770dup n.220-5326dup c.105306dup (p.Val35103SerfsTer6) c.79200dup (p.Val26401SerfsTer6) c.79059dup (p.Val26354SerfsTer6) c.105102dup (p.Val35035SerfsTer6) c.100500dup (p.Val33501SerfsTer6) c.100497dup (p.Val33500SerfsTer6) c.97539dup (p.Val32514SerfsTer6) c.79155dup (p.Val26386SerfsTer6) c.100650dup (p.Val33551SerfsTer6) c.100647dup (p.Val33550SerfsTer6) c.100080dup (p.Val33361SerfsTer6) c.97422dup (p.Val32475SerfsTer6) c.97341dup (p.Val32448SerfsTer6) c.79104dup (p.Val26369SerfsTer6) c.68958dup (p.Val22987SerfsTer6) | |
2 | g.178530407G>A | CA349406604 | TTN,TTN-AS1 | c.98504C>T (p.Thr32835Ile) c.79589C>T (p.Thr26530Ile) c.79388C>T (p.Thr26463Ile) c.79013C>T (p.Thr26338Ile) c.106208C>T (p.Thr35403Ile) c.101285C>T (p.Thr33762Ile) n.446+6771G>A n.220-5325G>A c.105305C>T (p.Thr35102Ile) c.79199C>T (p.Thr26400Ile) c.79058C>T (p.Thr26353Ile) c.105101C>T (p.Thr35034Ile) c.100499C>T (p.Thr33500Ile) c.100496C>T (p.Thr33499Ile) c.97538C>T (p.Thr32513Ile) c.79154C>T (p.Thr26385Ile) c.100649C>T (p.Thr33550Ile) c.100646C>T (p.Thr33549Ile) c.100079C>T (p.Thr33360Ile) c.97421C>T (p.Thr32474Ile) c.97340C>T (p.Thr32447Ile) c.79103C>T (p.Thr26368Ile) c.68957C>T (p.Thr22986Ile) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.178530407G>C | CA349406605 | TTN,TTN-AS1 | c.98504C>G (p.Thr32835Arg) c.79589C>G (p.Thr26530Arg) c.79388C>G (p.Thr26463Arg) c.79013C>G (p.Thr26338Arg) c.106208C>G (p.Thr35403Arg) c.101285C>G (p.Thr33762Arg) n.446+6771G>C n.220-5325G>C c.105305C>G (p.Thr35102Arg) c.79199C>G (p.Thr26400Arg) c.79058C>G (p.Thr26353Arg) c.105101C>G (p.Thr35034Arg) c.100499C>G (p.Thr33500Arg) c.100496C>G (p.Thr33499Arg) c.97538C>G (p.Thr32513Arg) c.79154C>G (p.Thr26385Arg) c.100649C>G (p.Thr33550Arg) c.100646C>G (p.Thr33549Arg) c.100079C>G (p.Thr33360Arg) c.97421C>G (p.Thr32474Arg) c.97340C>G (p.Thr32447Arg) c.79103C>G (p.Thr26368Arg) c.68957C>G (p.Thr22986Arg) | |
2 | g.178530407G= | CA1310514604 | TTN,TTN-AS1 | c.98504C= (p.Thr32835=) c.79589C= (p.Thr26530=) c.79388C= (p.Thr26463=) c.79013C= (p.Thr26338=) c.106208C= (p.Thr35403=) c.101285C= (p.Thr33762=) n.446+6771G= n.220-5325G= c.105305C= (p.Thr35102=) c.79199C= (p.Thr26400=) c.79058C= (p.Thr26353=) c.105101C= (p.Thr35034=) c.100499C= (p.Thr33500=) c.100496C= (p.Thr33499=) c.97538C= (p.Thr32513=) c.79154C= (p.Thr26385=) c.100649C= (p.Thr33550=) c.100646C= (p.Thr33549=) c.100079C= (p.Thr33360=) c.97421C= (p.Thr32474=) c.97340C= (p.Thr32447=) c.79103C= (p.Thr26368=) c.68957C= (p.Thr22986=) | |
2 | g.178530407G>T | CA349406606 | TTN,TTN-AS1 | c.98504C>A (p.Thr32835Lys) c.79589C>A (p.Thr26530Lys) c.79388C>A (p.Thr26463Lys) c.79013C>A (p.Thr26338Lys) c.106208C>A (p.Thr35403Lys) c.101285C>A (p.Thr33762Lys) n.446+6771G>T n.220-5325G>T c.105305C>A (p.Thr35102Lys) c.79199C>A (p.Thr26400Lys) c.79058C>A (p.Thr26353Lys) c.105101C>A (p.Thr35034Lys) c.100499C>A (p.Thr33500Lys) c.100496C>A (p.Thr33499Lys) c.97538C>A (p.Thr32513Lys) c.79154C>A (p.Thr26385Lys) c.100649C>A (p.Thr33550Lys) c.100646C>A (p.Thr33549Lys) c.100079C>A (p.Thr33360Lys) c.97421C>A (p.Thr32474Lys) c.97340C>A (p.Thr32447Lys) c.79103C>A (p.Thr26368Lys) c.68957C>A (p.Thr22986Lys) | |
2 | g.178530408T>A | CA349406609 | TTN,TTN-AS1 | c.98503A>T (p.Thr32835Ser) c.79588A>T (p.Thr26530Ser) c.79387A>T (p.Thr26463Ser) c.79012A>T (p.Thr26338Ser) c.106207A>T (p.Thr35403Ser) c.101284A>T (p.Thr33762Ser) n.446+6772T>A n.220-5324T>A c.105304A>T (p.Thr35102Ser) c.79198A>T (p.Thr26400Ser) c.79057A>T (p.Thr26353Ser) c.105100A>T (p.Thr35034Ser) c.100498A>T (p.Thr33500Ser) c.100495A>T (p.Thr33499Ser) c.97537A>T (p.Thr32513Ser) c.79153A>T (p.Thr26385Ser) c.100648A>T (p.Thr33550Ser) c.100645A>T (p.Thr33549Ser) c.100078A>T (p.Thr33360Ser) c.97420A>T (p.Thr32474Ser) c.97339A>T (p.Thr32447Ser) c.79102A>T (p.Thr26368Ser) c.68956A>T (p.Thr22986Ser) | |
2 | g.178530408T>C | CA349406611 | TTN,TTN-AS1 | c.98503A>G (p.Thr32835Ala) c.79588A>G (p.Thr26530Ala) c.79387A>G (p.Thr26463Ala) c.79012A>G (p.Thr26338Ala) c.106207A>G (p.Thr35403Ala) c.101284A>G (p.Thr33762Ala) n.446+6772T>C n.220-5324T>C c.105304A>G (p.Thr35102Ala) c.79198A>G (p.Thr26400Ala) c.79057A>G (p.Thr26353Ala) c.105100A>G (p.Thr35034Ala) c.100498A>G (p.Thr33500Ala) c.100495A>G (p.Thr33499Ala) c.97537A>G (p.Thr32513Ala) c.79153A>G (p.Thr26385Ala) c.100648A>G (p.Thr33550Ala) c.100645A>G (p.Thr33549Ala) c.100078A>G (p.Thr33360Ala) c.97420A>G (p.Thr32474Ala) c.97339A>G (p.Thr32447Ala) c.79102A>G (p.Thr26368Ala) c.68956A>G (p.Thr22986Ala) | |
2 | g.178530408T>G | CA349406613 | TTN,TTN-AS1 | c.98503A>C (p.Thr32835Pro) c.79588A>C (p.Thr26530Pro) c.79387A>C (p.Thr26463Pro) c.79012A>C (p.Thr26338Pro) c.106207A>C (p.Thr35403Pro) c.101284A>C (p.Thr33762Pro) n.446+6772T>G n.220-5324T>G c.105304A>C (p.Thr35102Pro) c.79198A>C (p.Thr26400Pro) c.79057A>C (p.Thr26353Pro) c.105100A>C (p.Thr35034Pro) c.100498A>C (p.Thr33500Pro) c.100495A>C (p.Thr33499Pro) c.97537A>C (p.Thr32513Pro) c.79153A>C (p.Thr26385Pro) c.100648A>C (p.Thr33550Pro) c.100645A>C (p.Thr33549Pro) c.100078A>C (p.Thr33360Pro) c.97420A>C (p.Thr32474Pro) c.97339A>C (p.Thr32447Pro) c.79102A>C (p.Thr26368Pro) c.68956A>C (p.Thr22986Pro) | gnomAD v4 |
2 | g.178530409T>A | CA430235293 | TTN,TTN-AS1 | c.98502A>T (p.Ser32834=) c.79587A>T (p.Ser26529=) c.79386A>T (p.Ser26462=) c.79011A>T (p.Ser26337=) c.106206A>T (p.Ser35402=) c.101283A>T (p.Ser33761=) n.446+6773T>A n.220-5323T>A c.105303A>T (p.Ser35101=) c.79197A>T (p.Ser26399=) c.79056A>T (p.Ser26352=) c.105099A>T (p.Ser35033=) c.100497A>T (p.Ser33499=) c.100494A>T (p.Ser33498=) c.97536A>T (p.Ser32512=) c.79152A>T (p.Ser26384=) c.100647A>T (p.Ser33549=) c.100644A>T (p.Ser33548=) c.100077A>T (p.Ser33359=) c.97419A>T (p.Ser32473=) c.97338A>T (p.Ser32446=) c.79101A>T (p.Ser26367=) c.68955A>T (p.Ser22985=) | |
2 | g.178530409T>C | CA430235294 | TTN,TTN-AS1 | c.98502A>G (p.Ser32834=) c.79587A>G (p.Ser26529=) c.79386A>G (p.Ser26462=) c.79011A>G (p.Ser26337=) c.106206A>G (p.Ser35402=) c.101283A>G (p.Ser33761=) n.446+6773T>C n.220-5323T>C c.105303A>G (p.Ser35101=) c.79197A>G (p.Ser26399=) c.79056A>G (p.Ser26352=) c.105099A>G (p.Ser35033=) c.100497A>G (p.Ser33499=) c.100494A>G (p.Ser33498=) c.97536A>G (p.Ser32512=) c.79152A>G (p.Ser26384=) c.100647A>G (p.Ser33549=) c.100644A>G (p.Ser33548=) c.100077A>G (p.Ser33359=) c.97419A>G (p.Ser32473=) c.97338A>G (p.Ser32446=) c.79101A>G (p.Ser26367=) c.68955A>G (p.Ser22985=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178530409T>G | CA430235295 | TTN,TTN-AS1 | c.98502A>C (p.Ser32834=) c.79587A>C (p.Ser26529=) c.79386A>C (p.Ser26462=) c.79011A>C (p.Ser26337=) c.106206A>C (p.Ser35402=) c.101283A>C (p.Ser33761=) n.446+6773T>G n.220-5323T>G c.105303A>C (p.Ser35101=) c.79197A>C (p.Ser26399=) c.79056A>C (p.Ser26352=) c.105099A>C (p.Ser35033=) c.100497A>C (p.Ser33499=) c.100494A>C (p.Ser33498=) c.97536A>C (p.Ser32512=) c.79152A>C (p.Ser26384=) c.100647A>C (p.Ser33549=) c.100644A>C (p.Ser33548=) c.100077A>C (p.Ser33359=) c.97419A>C (p.Ser32473=) c.97338A>C (p.Ser32446=) c.79101A>C (p.Ser26367=) c.68955A>C (p.Ser22985=) | gnomAD v4 |
2 | g.178530409T= | CA1310514606 | TTN,TTN-AS1 | c.98502A= (p.Ser32834=) c.79587A= (p.Ser26529=) c.79386A= (p.Ser26462=) c.79011A= (p.Ser26337=) c.106206A= (p.Ser35402=) c.101283A= (p.Ser33761=) n.446+6773T= n.220-5323T= c.105303A= (p.Ser35101=) c.79197A= (p.Ser26399=) c.79056A= (p.Ser26352=) c.105099A= (p.Ser35033=) c.100497A= (p.Ser33499=) c.100494A= (p.Ser33498=) c.97536A= (p.Ser32512=) c.79152A= (p.Ser26384=) c.100647A= (p.Ser33549=) c.100644A= (p.Ser33548=) c.100077A= (p.Ser33359=) c.97419A= (p.Ser32473=) c.97338A= (p.Ser32446=) c.79101A= (p.Ser26367=) c.68955A= (p.Ser22985=) | |
2 | g.178530410G>A | CA349406615 | TTN,TTN-AS1 | c.98501C>T (p.Ser32834Leu) c.79586C>T (p.Ser26529Leu) c.79385C>T (p.Ser26462Leu) c.79010C>T (p.Ser26337Leu) c.106205C>T (p.Ser35402Leu) c.101282C>T (p.Ser33761Leu) n.446+6774G>A n.220-5322G>A c.105302C>T (p.Ser35101Leu) c.79196C>T (p.Ser26399Leu) c.79055C>T (p.Ser26352Leu) c.105098C>T (p.Ser35033Leu) c.100496C>T (p.Ser33499Leu) c.100493C>T (p.Ser33498Leu) c.97535C>T (p.Ser32512Leu) c.79151C>T (p.Ser26384Leu) c.100646C>T (p.Ser33549Leu) c.100643C>T (p.Ser33548Leu) c.100076C>T (p.Ser33359Leu) c.97418C>T (p.Ser32473Leu) c.97337C>T (p.Ser32446Leu) c.79100C>T (p.Ser26367Leu) c.68954C>T (p.Ser22985Leu) | COSMIC COSMIC COSMIC COSMIC |
2 | g.178530410G>C | CA349406617 | TTN,TTN-AS1 | c.98501C>G (p.Ser32834Ter) c.79586C>G (p.Ser26529Ter) c.79385C>G (p.Ser26462Ter) c.79010C>G (p.Ser26337Ter) c.106205C>G (p.Ser35402Ter) c.101282C>G (p.Ser33761Ter) n.446+6774G>C n.220-5322G>C c.105302C>G (p.Ser35101Ter) c.79196C>G (p.Ser26399Ter) c.79055C>G (p.Ser26352Ter) c.105098C>G (p.Ser35033Ter) c.100496C>G (p.Ser33499Ter) c.100493C>G (p.Ser33498Ter) c.97535C>G (p.Ser32512Ter) c.79151C>G (p.Ser26384Ter) c.100646C>G (p.Ser33549Ter) c.100643C>G (p.Ser33548Ter) c.100076C>G (p.Ser33359Ter) c.97418C>G (p.Ser32473Ter) c.97337C>G (p.Ser32446Ter) c.79100C>G (p.Ser26367Ter) c.68954C>G (p.Ser22985Ter) | |
2 | g.178530410G>T | CA349406619 | TTN,TTN-AS1 | c.98501C>A (p.Ser32834Ter) c.79586C>A (p.Ser26529Ter) c.79385C>A (p.Ser26462Ter) c.79010C>A (p.Ser26337Ter) c.106205C>A (p.Ser35402Ter) c.101282C>A (p.Ser33761Ter) n.446+6774G>T n.220-5322G>T c.105302C>A (p.Ser35101Ter) c.79196C>A (p.Ser26399Ter) c.79055C>A (p.Ser26352Ter) c.105098C>A (p.Ser35033Ter) c.100496C>A (p.Ser33499Ter) c.100493C>A (p.Ser33498Ter) c.97535C>A (p.Ser32512Ter) c.79151C>A (p.Ser26384Ter) c.100646C>A (p.Ser33549Ter) c.100643C>A (p.Ser33548Ter) c.100076C>A (p.Ser33359Ter) c.97418C>A (p.Ser32473Ter) c.97337C>A (p.Ser32446Ter) c.79100C>A (p.Ser26367Ter) c.68954C>A (p.Ser22985Ter) | gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
2 | g.178530411A>C | CA349406621 | TTN,TTN-AS1 | c.98500T>G (p.Ser32834Ala) c.79585T>G (p.Ser26529Ala) c.79384T>G (p.Ser26462Ala) c.79009T>G (p.Ser26337Ala) c.106204T>G (p.Ser35402Ala) c.101281T>G (p.Ser33761Ala) n.446+6775A>C n.220-5321A>C c.105301T>G (p.Ser35101Ala) c.79195T>G (p.Ser26399Ala) c.79054T>G (p.Ser26352Ala) c.105097T>G (p.Ser35033Ala) c.100495T>G (p.Ser33499Ala) c.100492T>G (p.Ser33498Ala) c.97534T>G (p.Ser32512Ala) c.79150T>G (p.Ser26384Ala) c.100645T>G (p.Ser33549Ala) c.100642T>G (p.Ser33548Ala) c.100075T>G (p.Ser33359Ala) c.97417T>G (p.Ser32473Ala) c.97336T>G (p.Ser32446Ala) c.79099T>G (p.Ser26367Ala) c.68953T>G (p.Ser22985Ala) | |
2 | g.178530411A>G | CA349406622 | TTN,TTN-AS1 | c.98500T>C (p.Ser32834Pro) c.79585T>C (p.Ser26529Pro) c.79384T>C (p.Ser26462Pro) c.79009T>C (p.Ser26337Pro) c.106204T>C (p.Ser35402Pro) c.101281T>C (p.Ser33761Pro) n.446+6775A>G n.220-5321A>G c.105301T>C (p.Ser35101Pro) c.79195T>C (p.Ser26399Pro) c.79054T>C (p.Ser26352Pro) c.105097T>C (p.Ser35033Pro) c.100495T>C (p.Ser33499Pro) c.100492T>C (p.Ser33498Pro) c.97534T>C (p.Ser32512Pro) c.79150T>C (p.Ser26384Pro) c.100645T>C (p.Ser33549Pro) c.100642T>C (p.Ser33548Pro) c.100075T>C (p.Ser33359Pro) c.97417T>C (p.Ser32473Pro) c.97336T>C (p.Ser32446Pro) c.79099T>C (p.Ser26367Pro) c.68953T>C (p.Ser22985Pro) | |
2 | g.178530411A>T | CA349406624 | TTN,TTN-AS1 | c.98500T>A (p.Ser32834Thr) c.79585T>A (p.Ser26529Thr) c.79384T>A (p.Ser26462Thr) c.79009T>A (p.Ser26337Thr) c.106204T>A (p.Ser35402Thr) c.101281T>A (p.Ser33761Thr) n.446+6775A>T n.220-5321A>T c.105301T>A (p.Ser35101Thr) c.79195T>A (p.Ser26399Thr) c.79054T>A (p.Ser26352Thr) c.105097T>A (p.Ser35033Thr) c.100495T>A (p.Ser33499Thr) c.100492T>A (p.Ser33498Thr) c.97534T>A (p.Ser32512Thr) c.79150T>A (p.Ser26384Thr) c.100645T>A (p.Ser33549Thr) c.100642T>A (p.Ser33548Thr) c.100075T>A (p.Ser33359Thr) c.97417T>A (p.Ser32473Thr) c.97336T>A (p.Ser32446Thr) c.79099T>A (p.Ser26367Thr) c.68953T>A (p.Ser22985Thr) | |
2 | g.178530412C>A | CA349406630 | TTN,TTN-AS1 | c.98499G>T (p.Glu32833Asp) c.79584G>T (p.Glu26528Asp) c.79383G>T (p.Glu26461Asp) c.79008G>T (p.Glu26336Asp) c.106203G>T (p.Glu35401Asp) c.101280G>T (p.Glu33760Asp) n.446+6776C>A n.220-5320C>A c.105300G>T (p.Glu35100Asp) c.79194G>T (p.Glu26398Asp) c.79053G>T (p.Glu26351Asp) c.105096G>T (p.Glu35032Asp) c.100494G>T (p.Glu33498Asp) c.100491G>T (p.Glu33497Asp) c.97533G>T (p.Glu32511Asp) c.79149G>T (p.Glu26383Asp) c.100644G>T (p.Glu33548Asp) c.100641G>T (p.Glu33547Asp) c.100074G>T (p.Glu33358Asp) c.97416G>T (p.Glu32472Asp) c.97335G>T (p.Glu32445Asp) c.79098G>T (p.Glu26366Asp) c.68952G>T (p.Glu22984Asp) | gnomAD v4 |
2 | g.178530412C= | CA1310514608 | TTN,TTN-AS1 | c.98499G= (p.Glu32833=) c.79584G= (p.Glu26528=) c.79383G= (p.Glu26461=) c.79008G= (p.Glu26336=) c.106203G= (p.Glu35401=) c.101280G= (p.Glu33760=) n.446+6776C= n.220-5320C= c.105300G= (p.Glu35100=) c.79194G= (p.Glu26398=) c.79053G= (p.Glu26351=) c.105096G= (p.Glu35032=) c.100494G= (p.Glu33498=) c.100491G= (p.Glu33497=) c.97533G= (p.Glu32511=) c.79149G= (p.Glu26383=) c.100644G= (p.Glu33548=) c.100641G= (p.Glu33547=) c.100074G= (p.Glu33358=) c.97416G= (p.Glu32472=) c.97335G= (p.Glu32445=) c.79098G= (p.Glu26366=) c.68952G= (p.Glu22984=) | |
2 | g.178530412C>G | CA349406627 | TTN,TTN-AS1 | c.98499G>C (p.Glu32833Asp) c.79584G>C (p.Glu26528Asp) c.79383G>C (p.Glu26461Asp) c.79008G>C (p.Glu26336Asp) c.106203G>C (p.Glu35401Asp) c.101280G>C (p.Glu33760Asp) n.446+6776C>G n.220-5320C>G c.105300G>C (p.Glu35100Asp) c.79194G>C (p.Glu26398Asp) c.79053G>C (p.Glu26351Asp) c.105096G>C (p.Glu35032Asp) c.100494G>C (p.Glu33498Asp) c.100491G>C (p.Glu33497Asp) c.97533G>C (p.Glu32511Asp) c.79149G>C (p.Glu26383Asp) c.100644G>C (p.Glu33548Asp) c.100641G>C (p.Glu33547Asp) c.100074G>C (p.Glu33358Asp) c.97416G>C (p.Glu32472Asp) c.97335G>C (p.Glu32445Asp) c.79098G>C (p.Glu26366Asp) c.68952G>C (p.Glu22984Asp) | |
2 | g.178530412C>T | CA1985147 | TTN,TTN-AS1 | c.98499G>A (p.Glu32833=) c.79584G>A (p.Glu26528=) c.79383G>A (p.Glu26461=) c.79008G>A (p.Glu26336=) c.106203G>A (p.Glu35401=) c.101280G>A (p.Glu33760=) n.446+6776C>T n.220-5320C>T c.105300G>A (p.Glu35100=) c.79194G>A (p.Glu26398=) c.79053G>A (p.Glu26351=) c.105096G>A (p.Glu35032=) c.100494G>A (p.Glu33498=) c.100491G>A (p.Glu33497=) c.97533G>A (p.Glu32511=) c.79149G>A (p.Glu26383=) c.100644G>A (p.Glu33548=) c.100641G>A (p.Glu33547=) c.100074G>A (p.Glu33358=) c.97416G>A (p.Glu32472=) c.97335G>A (p.Glu32445=) c.79098G>A (p.Glu26366=) c.68952G>A (p.Glu22984=) | dbSNP ExAC |
2 | g.178530413T>A | CA349406632 | TTN,TTN-AS1 | c.98498A>T (p.Glu32833Val) c.79583A>T (p.Glu26528Val) c.79382A>T (p.Glu26461Val) c.79007A>T (p.Glu26336Val) c.106202A>T (p.Glu35401Val) c.101279A>T (p.Glu33760Val) n.446+6777T>A n.220-5319T>A c.105299A>T (p.Glu35100Val) c.79193A>T (p.Glu26398Val) c.79052A>T (p.Glu26351Val) c.105095A>T (p.Glu35032Val) c.100493A>T (p.Glu33498Val) c.100490A>T (p.Glu33497Val) c.97532A>T (p.Glu32511Val) c.79148A>T (p.Glu26383Val) c.100643A>T (p.Glu33548Val) c.100640A>T (p.Glu33547Val) c.100073A>T (p.Glu33358Val) c.97415A>T (p.Glu32472Val) c.97334A>T (p.Glu32445Val) c.79097A>T (p.Glu26366Val) c.68951A>T (p.Glu22984Val) | |
2 | g.178530413T>C | CA349406634 | TTN,TTN-AS1 | c.98498A>G (p.Glu32833Gly) c.79583A>G (p.Glu26528Gly) c.79382A>G (p.Glu26461Gly) c.79007A>G (p.Glu26336Gly) c.106202A>G (p.Glu35401Gly) c.101279A>G (p.Glu33760Gly) n.446+6777T>C n.220-5319T>C c.105299A>G (p.Glu35100Gly) c.79193A>G (p.Glu26398Gly) c.79052A>G (p.Glu26351Gly) c.105095A>G (p.Glu35032Gly) c.100493A>G (p.Glu33498Gly) c.100490A>G (p.Glu33497Gly) c.97532A>G (p.Glu32511Gly) c.79148A>G (p.Glu26383Gly) c.100643A>G (p.Glu33548Gly) c.100640A>G (p.Glu33547Gly) c.100073A>G (p.Glu33358Gly) c.97415A>G (p.Glu32472Gly) c.97334A>G (p.Glu32445Gly) c.79097A>G (p.Glu26366Gly) c.68951A>G (p.Glu22984Gly) | dbSNP |
2 | g.178530413T>G | CA349406636 | TTN,TTN-AS1 | c.98498A>C (p.Glu32833Ala) c.79583A>C (p.Glu26528Ala) c.79382A>C (p.Glu26461Ala) c.79007A>C (p.Glu26336Ala) c.106202A>C (p.Glu35401Ala) c.101279A>C (p.Glu33760Ala) n.446+6777T>G n.220-5319T>G c.105299A>C (p.Glu35100Ala) c.79193A>C (p.Glu26398Ala) c.79052A>C (p.Glu26351Ala) c.105095A>C (p.Glu35032Ala) c.100493A>C (p.Glu33498Ala) c.100490A>C (p.Glu33497Ala) c.97532A>C (p.Glu32511Ala) c.79148A>C (p.Glu26383Ala) c.100643A>C (p.Glu33548Ala) c.100640A>C (p.Glu33547Ala) c.100073A>C (p.Glu33358Ala) c.97415A>C (p.Glu32472Ala) c.97334A>C (p.Glu32445Ala) c.79097A>C (p.Glu26366Ala) c.68951A>C (p.Glu22984Ala) | gnomAD v4 |
2 | g.178530413T= | CA1310514609 | TTN,TTN-AS1 | c.98498A= (p.Glu32833=) c.79583A= (p.Glu26528=) c.79382A= (p.Glu26461=) c.79007A= (p.Glu26336=) c.106202A= (p.Glu35401=) c.101279A= (p.Glu33760=) n.446+6777T= n.220-5319T= c.105299A= (p.Glu35100=) c.79193A= (p.Glu26398=) c.79052A= (p.Glu26351=) c.105095A= (p.Glu35032=) c.100493A= (p.Glu33498=) c.100490A= (p.Glu33497=) c.97532A= (p.Glu32511=) c.79148A= (p.Glu26383=) c.100643A= (p.Glu33548=) c.100640A= (p.Glu33547=) c.100073A= (p.Glu33358=) c.97415A= (p.Glu32472=) c.97334A= (p.Glu32445=) c.79097A= (p.Glu26366=) c.68951A= (p.Glu22984=) | |
2 | g.178530414C>A | CA349406639 | TTN,TTN-AS1 | c.98497G>T (p.Glu32833Ter) c.79582G>T (p.Glu26528Ter) c.79381G>T (p.Glu26461Ter) c.79006G>T (p.Glu26336Ter) c.106201G>T (p.Glu35401Ter) c.101278G>T (p.Glu33760Ter) n.446+6778C>A n.220-5318C>A c.105298G>T (p.Glu35100Ter) c.79192G>T (p.Glu26398Ter) c.79051G>T (p.Glu26351Ter) c.105094G>T (p.Glu35032Ter) c.100492G>T (p.Glu33498Ter) c.100489G>T (p.Glu33497Ter) c.97531G>T (p.Glu32511Ter) c.79147G>T (p.Glu26383Ter) c.100642G>T (p.Glu33548Ter) c.100639G>T (p.Glu33547Ter) c.100072G>T (p.Glu33358Ter) c.97414G>T (p.Glu32472Ter) c.97333G>T (p.Glu32445Ter) c.79096G>T (p.Glu26366Ter) c.68950G>T (p.Glu22984Ter) | |
2 | g.178530414C>G | CA349406641 | TTN,TTN-AS1 | c.98497G>C (p.Glu32833Gln) c.79582G>C (p.Glu26528Gln) c.79381G>C (p.Glu26461Gln) c.79006G>C (p.Glu26336Gln) c.106201G>C (p.Glu35401Gln) c.101278G>C (p.Glu33760Gln) n.446+6778C>G n.220-5318C>G c.105298G>C (p.Glu35100Gln) c.79192G>C (p.Glu26398Gln) c.79051G>C (p.Glu26351Gln) c.105094G>C (p.Glu35032Gln) c.100492G>C (p.Glu33498Gln) c.100489G>C (p.Glu33497Gln) c.97531G>C (p.Glu32511Gln) c.79147G>C (p.Glu26383Gln) c.100642G>C (p.Glu33548Gln) c.100639G>C (p.Glu33547Gln) c.100072G>C (p.Glu33358Gln) c.97414G>C (p.Glu32472Gln) c.97333G>C (p.Glu32445Gln) c.79096G>C (p.Glu26366Gln) c.68950G>C (p.Glu22984Gln) | |
2 | g.178530414C>T | CA349406643 | TTN,TTN-AS1 | c.98497G>A (p.Glu32833Lys) c.79582G>A (p.Glu26528Lys) c.79381G>A (p.Glu26461Lys) c.79006G>A (p.Glu26336Lys) c.106201G>A (p.Glu35401Lys) c.101278G>A (p.Glu33760Lys) n.446+6778C>T n.220-5318C>T c.105298G>A (p.Glu35100Lys) c.79192G>A (p.Glu26398Lys) c.79051G>A (p.Glu26351Lys) c.105094G>A (p.Glu35032Lys) c.100492G>A (p.Glu33498Lys) c.100489G>A (p.Glu33497Lys) c.97531G>A (p.Glu32511Lys) c.79147G>A (p.Glu26383Lys) c.100642G>A (p.Glu33548Lys) c.100639G>A (p.Glu33547Lys) c.100072G>A (p.Glu33358Lys) c.97414G>A (p.Glu32472Lys) c.97333G>A (p.Glu32445Lys) c.79096G>A (p.Glu26366Lys) c.68950G>A (p.Glu22984Lys) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
2 | g.178530415del | CA2662125758 | TTN,TTN-AS1 | c.98496del (p.Glu32833SerfsTer4) c.79581del (p.Glu26528SerfsTer4) c.79380del (p.Glu26461SerfsTer4) c.79005del (p.Glu26336SerfsTer4) c.106200del (p.Glu35401SerfsTer4) c.101277del (p.Glu33760SerfsTer4) n.446+6779del n.220-5317del c.105297del (p.Glu35100SerfsTer4) c.79191del (p.Glu26398SerfsTer4) c.79050del (p.Glu26351SerfsTer4) c.105093del (p.Glu35032SerfsTer4) c.100491del (p.Glu33498SerfsTer4) c.100488del (p.Glu33497SerfsTer4) c.97530del (p.Glu32511SerfsTer4) c.79146del (p.Glu26383SerfsTer4) c.100641del (p.Glu33548SerfsTer4) c.100638del (p.Glu33547SerfsTer4) c.100071del (p.Glu33358SerfsTer4) c.97413del (p.Glu32472SerfsTer4) c.97332del (p.Glu32445SerfsTer4) c.79095del (p.Glu26366SerfsTer4) c.68949del (p.Glu22984SerfsTer4) | gnomAD v4 |
2 | g.178530415A= | CA1310514611 | TTN,TTN-AS1 | c.98496T= (p.Thr32832=) c.79581T= (p.Thr26527=) c.79380T= (p.Thr26460=) c.79005T= (p.Thr26335=) c.106200T= (p.Thr35400=) c.101277T= (p.Thr33759=) n.446+6779A= n.220-5317A= c.105297T= (p.Thr35099=) c.79191T= (p.Thr26397=) c.79050T= (p.Thr26350=) c.105093T= (p.Thr35031=) c.100491T= (p.Thr33497=) c.100488T= (p.Thr33496=) c.97530T= (p.Thr32510=) c.79146T= (p.Thr26382=) c.100641T= (p.Thr33547=) c.100638T= (p.Thr33546=) c.100071T= (p.Thr33357=) c.97413T= (p.Thr32471=) c.97332T= (p.Thr32444=) c.79095T= (p.Thr26365=) c.68949T= (p.Thr22983=) | |
2 | g.178530415A>C | CA430235311 | TTN,TTN-AS1 | c.98496T>G (p.Thr32832=) c.79581T>G (p.Thr26527=) c.79380T>G (p.Thr26460=) c.79005T>G (p.Thr26335=) c.106200T>G (p.Thr35400=) c.101277T>G (p.Thr33759=) n.446+6779A>C n.220-5317A>C c.105297T>G (p.Thr35099=) c.79191T>G (p.Thr26397=) c.79050T>G (p.Thr26350=) c.105093T>G (p.Thr35031=) c.100491T>G (p.Thr33497=) c.100488T>G (p.Thr33496=) c.97530T>G (p.Thr32510=) c.79146T>G (p.Thr26382=) c.100641T>G (p.Thr33547=) c.100638T>G (p.Thr33546=) c.100071T>G (p.Thr33357=) c.97413T>G (p.Thr32471=) c.97332T>G (p.Thr32444=) c.79095T>G (p.Thr26365=) c.68949T>G (p.Thr22983=) | |
2 | g.178530415A>G | CA1985148 | TTN,TTN-AS1 | c.98496T>C (p.Thr32832=) c.79581T>C (p.Thr26527=) c.79380T>C (p.Thr26460=) c.79005T>C (p.Thr26335=) c.106200T>C (p.Thr35400=) c.101277T>C (p.Thr33759=) n.446+6779A>G n.220-5317A>G c.105297T>C (p.Thr35099=) c.79191T>C (p.Thr26397=) c.79050T>C (p.Thr26350=) c.105093T>C (p.Thr35031=) c.100491T>C (p.Thr33497=) c.100488T>C (p.Thr33496=) c.97530T>C (p.Thr32510=) c.79146T>C (p.Thr26382=) c.100641T>C (p.Thr33547=) c.100638T>C (p.Thr33546=) c.100071T>C (p.Thr33357=) c.97413T>C (p.Thr32471=) c.97332T>C (p.Thr32444=) c.79095T>C (p.Thr26365=) c.68949T>C (p.Thr22983=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178530415A>T | CA430235312 | TTN,TTN-AS1 | c.98496T>A (p.Thr32832=) c.79581T>A (p.Thr26527=) c.79380T>A (p.Thr26460=) c.79005T>A (p.Thr26335=) c.106200T>A (p.Thr35400=) c.101277T>A (p.Thr33759=) n.446+6779A>T n.220-5317A>T c.105297T>A (p.Thr35099=) c.79191T>A (p.Thr26397=) c.79050T>A (p.Thr26350=) c.105093T>A (p.Thr35031=) c.100491T>A (p.Thr33497=) c.100488T>A (p.Thr33496=) c.97530T>A (p.Thr32510=) c.79146T>A (p.Thr26382=) c.100641T>A (p.Thr33547=) c.100638T>A (p.Thr33546=) c.100071T>A (p.Thr33357=) c.97413T>A (p.Thr32471=) c.97332T>A (p.Thr32444=) c.79095T>A (p.Thr26365=) c.68949T>A (p.Thr22983=) | |
2 | g.178530416G>A | CA349406647 | TTN,TTN-AS1 | c.98495C>T (p.Thr32832Ile) c.79580C>T (p.Thr26527Ile) c.79379C>T (p.Thr26460Ile) c.79004C>T (p.Thr26335Ile) c.106199C>T (p.Thr35400Ile) c.101276C>T (p.Thr33759Ile) n.446+6780G>A n.220-5316G>A c.105296C>T (p.Thr35099Ile) c.79190C>T (p.Thr26397Ile) c.79049C>T (p.Thr26350Ile) c.105092C>T (p.Thr35031Ile) c.100490C>T (p.Thr33497Ile) c.100487C>T (p.Thr33496Ile) c.97529C>T (p.Thr32510Ile) c.79145C>T (p.Thr26382Ile) c.100640C>T (p.Thr33547Ile) c.100637C>T (p.Thr33546Ile) c.100070C>T (p.Thr33357Ile) c.97412C>T (p.Thr32471Ile) c.97331C>T (p.Thr32444Ile) c.79094C>T (p.Thr26365Ile) c.68948C>T (p.Thr22983Ile) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.178530416G>C | CA349406649 | TTN,TTN-AS1 | c.98495C>G (p.Thr32832Ser) c.79580C>G (p.Thr26527Ser) c.79379C>G (p.Thr26460Ser) c.79004C>G (p.Thr26335Ser) c.106199C>G (p.Thr35400Ser) c.101276C>G (p.Thr33759Ser) n.446+6780G>C n.220-5316G>C c.105296C>G (p.Thr35099Ser) c.79190C>G (p.Thr26397Ser) c.79049C>G (p.Thr26350Ser) c.105092C>G (p.Thr35031Ser) c.100490C>G (p.Thr33497Ser) c.100487C>G (p.Thr33496Ser) c.97529C>G (p.Thr32510Ser) c.79145C>G (p.Thr26382Ser) c.100640C>G (p.Thr33547Ser) c.100637C>G (p.Thr33546Ser) c.100070C>G (p.Thr33357Ser) c.97412C>G (p.Thr32471Ser) c.97331C>G (p.Thr32444Ser) c.79094C>G (p.Thr26365Ser) c.68948C>G (p.Thr22983Ser) | ClinVar dbSNP |
2 | g.178530416G= | CA1310514614 | TTN,TTN-AS1 | c.98495C= (p.Thr32832=) c.79580C= (p.Thr26527=) c.79379C= (p.Thr26460=) c.79004C= (p.Thr26335=) c.106199C= (p.Thr35400=) c.101276C= (p.Thr33759=) n.446+6780G= n.220-5316G= c.105296C= (p.Thr35099=) c.79190C= (p.Thr26397=) c.79049C= (p.Thr26350=) c.105092C= (p.Thr35031=) c.100490C= (p.Thr33497=) c.100487C= (p.Thr33496=) c.97529C= (p.Thr32510=) c.79145C= (p.Thr26382=) c.100640C= (p.Thr33547=) c.100637C= (p.Thr33546=) c.100070C= (p.Thr33357=) c.97412C= (p.Thr32471=) c.97331C= (p.Thr32444=) c.79094C= (p.Thr26365=) c.68948C= (p.Thr22983=) | |
2 | g.178530416G>T | CA60953350 | TTN,TTN-AS1 | c.98495C>A (p.Thr32832Asn) c.79580C>A (p.Thr26527Asn) c.79379C>A (p.Thr26460Asn) c.79004C>A (p.Thr26335Asn) c.106199C>A (p.Thr35400Asn) c.101276C>A (p.Thr33759Asn) n.446+6780G>T n.220-5316G>T c.105296C>A (p.Thr35099Asn) c.79190C>A (p.Thr26397Asn) c.79049C>A (p.Thr26350Asn) c.105092C>A (p.Thr35031Asn) c.100490C>A (p.Thr33497Asn) c.100487C>A (p.Thr33496Asn) c.97529C>A (p.Thr32510Asn) c.79145C>A (p.Thr26382Asn) c.100640C>A (p.Thr33547Asn) c.100637C>A (p.Thr33546Asn) c.100070C>A (p.Thr33357Asn) c.97412C>A (p.Thr32471Asn) c.97331C>A (p.Thr32444Asn) c.79094C>A (p.Thr26365Asn) c.68948C>A (p.Thr22983Asn) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.178530417T>A | CA349406656 | TTN,TTN-AS1 | c.98494A>T (p.Thr32832Ser) c.79579A>T (p.Thr26527Ser) c.79378A>T (p.Thr26460Ser) c.79003A>T (p.Thr26335Ser) c.106198A>T (p.Thr35400Ser) c.101275A>T (p.Thr33759Ser) n.446+6781T>A n.220-5315T>A c.105295A>T (p.Thr35099Ser) c.79189A>T (p.Thr26397Ser) c.79048A>T (p.Thr26350Ser) c.105091A>T (p.Thr35031Ser) c.100489A>T (p.Thr33497Ser) c.100486A>T (p.Thr33496Ser) c.97528A>T (p.Thr32510Ser) c.79144A>T (p.Thr26382Ser) c.100639A>T (p.Thr33547Ser) c.100636A>T (p.Thr33546Ser) c.100069A>T (p.Thr33357Ser) c.97411A>T (p.Thr32471Ser) c.97330A>T (p.Thr32444Ser) c.79093A>T (p.Thr26365Ser) c.68947A>T (p.Thr22983Ser) | |
2 | g.178530417T>C | CA349406654 | TTN,TTN-AS1 | c.98494A>G (p.Thr32832Ala) c.79579A>G (p.Thr26527Ala) c.79378A>G (p.Thr26460Ala) c.79003A>G (p.Thr26335Ala) c.106198A>G (p.Thr35400Ala) c.101275A>G (p.Thr33759Ala) n.446+6781T>C n.220-5315T>C c.105295A>G (p.Thr35099Ala) c.79189A>G (p.Thr26397Ala) c.79048A>G (p.Thr26350Ala) c.105091A>G (p.Thr35031Ala) c.100489A>G (p.Thr33497Ala) c.100486A>G (p.Thr33496Ala) c.97528A>G (p.Thr32510Ala) c.79144A>G (p.Thr26382Ala) c.100639A>G (p.Thr33547Ala) c.100636A>G (p.Thr33546Ala) c.100069A>G (p.Thr33357Ala) c.97411A>G (p.Thr32471Ala) c.97330A>G (p.Thr32444Ala) c.79093A>G (p.Thr26365Ala) c.68947A>G (p.Thr22983Ala) | |
2 | g.178530417T>G | CA349406653 | TTN,TTN-AS1 | c.98494A>C (p.Thr32832Pro) c.79579A>C (p.Thr26527Pro) c.79378A>C (p.Thr26460Pro) c.79003A>C (p.Thr26335Pro) c.106198A>C (p.Thr35400Pro) c.101275A>C (p.Thr33759Pro) n.446+6781T>G n.220-5315T>G c.105295A>C (p.Thr35099Pro) c.79189A>C (p.Thr26397Pro) c.79048A>C (p.Thr26350Pro) c.105091A>C (p.Thr35031Pro) c.100489A>C (p.Thr33497Pro) c.100486A>C (p.Thr33496Pro) c.97528A>C (p.Thr32510Pro) c.79144A>C (p.Thr26382Pro) c.100639A>C (p.Thr33547Pro) c.100636A>C (p.Thr33546Pro) c.100069A>C (p.Thr33357Pro) c.97411A>C (p.Thr32471Pro) c.97330A>C (p.Thr32444Pro) c.79093A>C (p.Thr26365Pro) c.68947A>C (p.Thr22983Pro) | |
2 | g.178530418G>A | CA430235316 | TTN,TTN-AS1 | c.98493C>T (p.Thr32831=) c.79578C>T (p.Thr26526=) c.79377C>T (p.Thr26459=) c.79002C>T (p.Thr26334=) c.106197C>T (p.Thr35399=) c.101274C>T (p.Thr33758=) n.446+6782G>A n.220-5314G>A c.105294C>T (p.Thr35098=) c.79188C>T (p.Thr26396=) c.79047C>T (p.Thr26349=) c.105090C>T (p.Thr35030=) c.100488C>T (p.Thr33496=) c.100485C>T (p.Thr33495=) c.97527C>T (p.Thr32509=) c.79143C>T (p.Thr26381=) c.100638C>T (p.Thr33546=) c.100635C>T (p.Thr33545=) c.100068C>T (p.Thr33356=) c.97410C>T (p.Thr32470=) c.97329C>T (p.Thr32443=) c.79092C>T (p.Thr26364=) c.68946C>T (p.Thr22982=) | |
2 | g.178530418G>C | CA430235317 | TTN,TTN-AS1 | c.98493C>G (p.Thr32831=) c.79578C>G (p.Thr26526=) c.79377C>G (p.Thr26459=) c.79002C>G (p.Thr26334=) c.106197C>G (p.Thr35399=) c.101274C>G (p.Thr33758=) n.446+6782G>C n.220-5314G>C c.105294C>G (p.Thr35098=) c.79188C>G (p.Thr26396=) c.79047C>G (p.Thr26349=) c.105090C>G (p.Thr35030=) c.100488C>G (p.Thr33496=) c.100485C>G (p.Thr33495=) c.97527C>G (p.Thr32509=) c.79143C>G (p.Thr26381=) c.100638C>G (p.Thr33546=) c.100635C>G (p.Thr33545=) c.100068C>G (p.Thr33356=) c.97410C>G (p.Thr32470=) c.97329C>G (p.Thr32443=) c.79092C>G (p.Thr26364=) c.68946C>G (p.Thr22982=) | |
2 | g.178530418G>T | CA430235321 | TTN,TTN-AS1 | c.98493C>A (p.Thr32831=) c.79578C>A (p.Thr26526=) c.79377C>A (p.Thr26459=) c.79002C>A (p.Thr26334=) c.106197C>A (p.Thr35399=) c.101274C>A (p.Thr33758=) n.446+6782G>T n.220-5314G>T c.105294C>A (p.Thr35098=) c.79188C>A (p.Thr26396=) c.79047C>A (p.Thr26349=) c.105090C>A (p.Thr35030=) c.100488C>A (p.Thr33496=) c.100485C>A (p.Thr33495=) c.97527C>A (p.Thr32509=) c.79143C>A (p.Thr26381=) c.100638C>A (p.Thr33546=) c.100635C>A (p.Thr33545=) c.100068C>A (p.Thr33356=) c.97410C>A (p.Thr32470=) c.97329C>A (p.Thr32443=) c.79092C>A (p.Thr26364=) c.68946C>A (p.Thr22982=) | |
2 | g.178530418_178530420delinsGGT | CA1310514616 | TTN,TTN-AS1 | c.98491_98493delinsACC (p.Thr32831=) c.79576_79578delinsACC (p.Thr26526=) c.79375_79377delinsACC (p.Thr26459=) c.79000_79002delinsACC (p.Thr26334=) c.106195_106197delinsACC (p.Thr35399=) c.101272_101274delinsACC (p.Thr33758=) n.446+6782_446+6784delinsGGT n.220-5314_220-5312delinsGGT c.105292_105294delinsACC (p.Thr35098=) c.79186_79188delinsACC (p.Thr26396=) c.79045_79047delinsACC (p.Thr26349=) c.105088_105090delinsACC (p.Thr35030=) c.100486_100488delinsACC (p.Thr33496=) c.100483_100485delinsACC (p.Thr33495=) c.97525_97527delinsACC (p.Thr32509=) c.79141_79143delinsACC (p.Thr26381=) c.100636_100638delinsACC (p.Thr33546=) c.100633_100635delinsACC (p.Thr33545=) c.100066_100068delinsACC (p.Thr33356=) c.97408_97410delinsACC (p.Thr32470=) c.97327_97329delinsACC (p.Thr32443=) c.79090_79092delinsACC (p.Thr26364=) c.68944_68946delinsACC (p.Thr22982=) | |
2 | g.178530419G>A | CA349406659 | TTN,TTN-AS1 | c.98492C>T (p.Thr32831Ile) c.79577C>T (p.Thr26526Ile) c.79376C>T (p.Thr26459Ile) c.79001C>T (p.Thr26334Ile) c.106196C>T (p.Thr35399Ile) c.101273C>T (p.Thr33758Ile) n.446+6783G>A n.220-5313G>A c.105293C>T (p.Thr35098Ile) c.79187C>T (p.Thr26396Ile) c.79046C>T (p.Thr26349Ile) c.105089C>T (p.Thr35030Ile) c.100487C>T (p.Thr33496Ile) c.100484C>T (p.Thr33495Ile) c.97526C>T (p.Thr32509Ile) c.79142C>T (p.Thr26381Ile) c.100637C>T (p.Thr33546Ile) c.100634C>T (p.Thr33545Ile) c.100067C>T (p.Thr33356Ile) c.97409C>T (p.Thr32470Ile) c.97328C>T (p.Thr32443Ile) c.79091C>T (p.Thr26364Ile) c.68945C>T (p.Thr22982Ile) | |
2 | g.178530419G>C | CA349406662 | TTN,TTN-AS1 | c.98492C>G (p.Thr32831Ser) c.79577C>G (p.Thr26526Ser) c.79376C>G (p.Thr26459Ser) c.79001C>G (p.Thr26334Ser) c.106196C>G (p.Thr35399Ser) c.101273C>G (p.Thr33758Ser) n.446+6783G>C n.220-5313G>C c.105293C>G (p.Thr35098Ser) c.79187C>G (p.Thr26396Ser) c.79046C>G (p.Thr26349Ser) c.105089C>G (p.Thr35030Ser) c.100487C>G (p.Thr33496Ser) c.100484C>G (p.Thr33495Ser) c.97526C>G (p.Thr32509Ser) c.79142C>G (p.Thr26381Ser) c.100637C>G (p.Thr33546Ser) c.100634C>G (p.Thr33545Ser) c.100067C>G (p.Thr33356Ser) c.97409C>G (p.Thr32470Ser) c.97328C>G (p.Thr32443Ser) c.79091C>G (p.Thr26364Ser) c.68945C>G (p.Thr22982Ser) | |
2 | g.178530419G>T | CA349406660 | TTN,TTN-AS1 | c.98492C>A (p.Thr32831Asn) c.79577C>A (p.Thr26526Asn) c.79376C>A (p.Thr26459Asn) c.79001C>A (p.Thr26334Asn) c.106196C>A (p.Thr35399Asn) c.101273C>A (p.Thr33758Asn) n.446+6783G>T n.220-5313G>T c.105293C>A (p.Thr35098Asn) c.79187C>A (p.Thr26396Asn) c.79046C>A (p.Thr26349Asn) c.105089C>A (p.Thr35030Asn) c.100487C>A (p.Thr33496Asn) c.100484C>A (p.Thr33495Asn) c.97526C>A (p.Thr32509Asn) c.79142C>A (p.Thr26381Asn) c.100637C>A (p.Thr33546Asn) c.100634C>A (p.Thr33545Asn) c.100067C>A (p.Thr33356Asn) c.97409C>A (p.Thr32470Asn) c.97328C>A (p.Thr32443Asn) c.79091C>A (p.Thr26364Asn) c.68945C>A (p.Thr22982Asn) | |
2 | g.178530419_178530420del | CA1310514618 | TTN,TTN-AS1 | c.98491_98492del (p.Thr32831HisfsTer2) c.79576_79577del (p.Thr26526HisfsTer2) c.79375_79376del (p.Thr26459HisfsTer2) c.79000_79001del (p.Thr26334HisfsTer2) c.106195_106196del (p.Thr35399HisfsTer2) c.101272_101273del (p.Thr33758HisfsTer2) n.446+6783_446+6784del n.220-5313_220-5312del c.105292_105293del (p.Thr35098HisfsTer2) c.79186_79187del (p.Thr26396HisfsTer2) c.79045_79046del (p.Thr26349HisfsTer2) c.105088_105089del (p.Thr35030HisfsTer2) c.100486_100487del (p.Thr33496HisfsTer2) c.100483_100484del (p.Thr33495HisfsTer2) c.97525_97526del (p.Thr32509HisfsTer2) c.79141_79142del (p.Thr26381HisfsTer2) c.100636_100637del (p.Thr33546HisfsTer2) c.100633_100634del (p.Thr33545HisfsTer2) c.100066_100067del (p.Thr33356HisfsTer2) c.97408_97409del (p.Thr32470HisfsTer2) c.97327_97328del (p.Thr32443HisfsTer2) c.79090_79091del (p.Thr26364HisfsTer2) c.68944_68945del (p.Thr22982HisfsTer2) | dbSNP |
2 | g.178530420T>A | CA349406664 | TTN,TTN-AS1 | c.98491A>T (p.Thr32831Ser) c.79576A>T (p.Thr26526Ser) c.79375A>T (p.Thr26459Ser) c.79000A>T (p.Thr26334Ser) c.106195A>T (p.Thr35399Ser) c.101272A>T (p.Thr33758Ser) n.446+6784T>A n.220-5312T>A c.105292A>T (p.Thr35098Ser) c.79186A>T (p.Thr26396Ser) c.79045A>T (p.Thr26349Ser) c.105088A>T (p.Thr35030Ser) c.100486A>T (p.Thr33496Ser) c.100483A>T (p.Thr33495Ser) c.97525A>T (p.Thr32509Ser) c.79141A>T (p.Thr26381Ser) c.100636A>T (p.Thr33546Ser) c.100633A>T (p.Thr33545Ser) c.100066A>T (p.Thr33356Ser) c.97408A>T (p.Thr32470Ser) c.97327A>T (p.Thr32443Ser) c.79090A>T (p.Thr26364Ser) c.68944A>T (p.Thr22982Ser) | |
2 | g.178530420T>C | CA349406665 | TTN,TTN-AS1 | c.98491A>G (p.Thr32831Ala) c.79576A>G (p.Thr26526Ala) c.79375A>G (p.Thr26459Ala) c.79000A>G (p.Thr26334Ala) c.106195A>G (p.Thr35399Ala) c.101272A>G (p.Thr33758Ala) n.446+6784T>C n.220-5312T>C c.105292A>G (p.Thr35098Ala) c.79186A>G (p.Thr26396Ala) c.79045A>G (p.Thr26349Ala) c.105088A>G (p.Thr35030Ala) c.100486A>G (p.Thr33496Ala) c.100483A>G (p.Thr33495Ala) c.97525A>G (p.Thr32509Ala) c.79141A>G (p.Thr26381Ala) c.100636A>G (p.Thr33546Ala) c.100633A>G (p.Thr33545Ala) c.100066A>G (p.Thr33356Ala) c.97408A>G (p.Thr32470Ala) c.97327A>G (p.Thr32443Ala) c.79090A>G (p.Thr26364Ala) c.68944A>G (p.Thr22982Ala) | |
2 | g.178530420T>G | CA349406667 | TTN,TTN-AS1 | c.98491A>C (p.Thr32831Pro) c.79576A>C (p.Thr26526Pro) c.79375A>C (p.Thr26459Pro) c.79000A>C (p.Thr26334Pro) c.106195A>C (p.Thr35399Pro) c.101272A>C (p.Thr33758Pro) n.446+6784T>G n.220-5312T>G c.105292A>C (p.Thr35098Pro) c.79186A>C (p.Thr26396Pro) c.79045A>C (p.Thr26349Pro) c.105088A>C (p.Thr35030Pro) c.100486A>C (p.Thr33496Pro) c.100483A>C (p.Thr33495Pro) c.97525A>C (p.Thr32509Pro) c.79141A>C (p.Thr26381Pro) c.100636A>C (p.Thr33546Pro) c.100633A>C (p.Thr33545Pro) c.100066A>C (p.Thr33356Pro) c.97408A>C (p.Thr32470Pro) c.97327A>C (p.Thr32443Pro) c.79090A>C (p.Thr26364Pro) c.68944A>C (p.Thr22982Pro) | |
2 | g.178530421T>A | CA349406669 | TTN,TTN-AS1 | c.98490A>T (p.Lys32830Asn) c.79575A>T (p.Lys26525Asn) c.79374A>T (p.Lys26458Asn) c.78999A>T (p.Lys26333Asn) c.106194A>T (p.Lys35398Asn) c.101271A>T (p.Lys33757Asn) n.446+6785T>A n.220-5311T>A c.105291A>T (p.Lys35097Asn) c.79185A>T (p.Lys26395Asn) c.79044A>T (p.Lys26348Asn) c.105087A>T (p.Lys35029Asn) c.100485A>T (p.Lys33495Asn) c.100482A>T (p.Lys33494Asn) c.97524A>T (p.Lys32508Asn) c.79140A>T (p.Lys26380Asn) c.100635A>T (p.Lys33545Asn) c.100632A>T (p.Lys33544Asn) c.100065A>T (p.Lys33355Asn) c.97407A>T (p.Lys32469Asn) c.97326A>T (p.Lys32442Asn) c.79089A>T (p.Lys26363Asn) c.68943A>T (p.Lys22981Asn) | |
2 | g.178530421T>C | CA430235327 | TTN,TTN-AS1 | c.98490A>G (p.Lys32830=) c.79575A>G (p.Lys26525=) c.79374A>G (p.Lys26458=) c.78999A>G (p.Lys26333=) c.106194A>G (p.Lys35398=) c.101271A>G (p.Lys33757=) n.446+6785T>C n.220-5311T>C c.105291A>G (p.Lys35097=) c.79185A>G (p.Lys26395=) c.79044A>G (p.Lys26348=) c.105087A>G (p.Lys35029=) c.100485A>G (p.Lys33495=) c.100482A>G (p.Lys33494=) c.97524A>G (p.Lys32508=) c.79140A>G (p.Lys26380=) c.100635A>G (p.Lys33545=) c.100632A>G (p.Lys33544=) c.100065A>G (p.Lys33355=) c.97407A>G (p.Lys32469=) c.97326A>G (p.Lys32442=) c.79089A>G (p.Lys26363=) c.68943A>G (p.Lys22981=) | |
2 | g.178530421T>G | CA349406671 | TTN,TTN-AS1 | c.98490A>C (p.Lys32830Asn) c.79575A>C (p.Lys26525Asn) c.79374A>C (p.Lys26458Asn) c.78999A>C (p.Lys26333Asn) c.106194A>C (p.Lys35398Asn) c.101271A>C (p.Lys33757Asn) n.446+6785T>G n.220-5311T>G c.105291A>C (p.Lys35097Asn) c.79185A>C (p.Lys26395Asn) c.79044A>C (p.Lys26348Asn) c.105087A>C (p.Lys35029Asn) c.100485A>C (p.Lys33495Asn) c.100482A>C (p.Lys33494Asn) c.97524A>C (p.Lys32508Asn) c.79140A>C (p.Lys26380Asn) c.100635A>C (p.Lys33545Asn) c.100632A>C (p.Lys33544Asn) c.100065A>C (p.Lys33355Asn) c.97407A>C (p.Lys32469Asn) c.97326A>C (p.Lys32442Asn) c.79089A>C (p.Lys26363Asn) c.68943A>C (p.Lys22981Asn) | |
2 | g.178530422T>A | CA349406674 | TTN,TTN-AS1 | c.98489A>T (p.Lys32830Ile) c.79574A>T (p.Lys26525Ile) c.79373A>T (p.Lys26458Ile) c.78998A>T (p.Lys26333Ile) c.106193A>T (p.Lys35398Ile) c.101270A>T (p.Lys33757Ile) n.446+6786T>A n.220-5310T>A c.105290A>T (p.Lys35097Ile) c.79184A>T (p.Lys26395Ile) c.79043A>T (p.Lys26348Ile) c.105086A>T (p.Lys35029Ile) c.100484A>T (p.Lys33495Ile) c.100481A>T (p.Lys33494Ile) c.97523A>T (p.Lys32508Ile) c.79139A>T (p.Lys26380Ile) c.100634A>T (p.Lys33545Ile) c.100631A>T (p.Lys33544Ile) c.100064A>T (p.Lys33355Ile) c.97406A>T (p.Lys32469Ile) c.97325A>T (p.Lys32442Ile) c.79088A>T (p.Lys26363Ile) c.68942A>T (p.Lys22981Ile) | |
2 | g.178530422T>C | CA349406676 | TTN,TTN-AS1 | c.98489A>G (p.Lys32830Arg) c.79574A>G (p.Lys26525Arg) c.79373A>G (p.Lys26458Arg) c.78998A>G (p.Lys26333Arg) c.106193A>G (p.Lys35398Arg) c.101270A>G (p.Lys33757Arg) n.446+6786T>C n.220-5310T>C c.105290A>G (p.Lys35097Arg) c.79184A>G (p.Lys26395Arg) c.79043A>G (p.Lys26348Arg) c.105086A>G (p.Lys35029Arg) c.100484A>G (p.Lys33495Arg) c.100481A>G (p.Lys33494Arg) c.97523A>G (p.Lys32508Arg) c.79139A>G (p.Lys26380Arg) c.100634A>G (p.Lys33545Arg) c.100631A>G (p.Lys33544Arg) c.100064A>G (p.Lys33355Arg) c.97406A>G (p.Lys32469Arg) c.97325A>G (p.Lys32442Arg) c.79088A>G (p.Lys26363Arg) c.68942A>G (p.Lys22981Arg) | |
2 | g.178530422T>G | CA349406677 | TTN,TTN-AS1 | c.98489A>C (p.Lys32830Thr) c.79574A>C (p.Lys26525Thr) c.79373A>C (p.Lys26458Thr) c.78998A>C (p.Lys26333Thr) c.106193A>C (p.Lys35398Thr) c.101270A>C (p.Lys33757Thr) n.446+6786T>G n.220-5310T>G c.105290A>C (p.Lys35097Thr) c.79184A>C (p.Lys26395Thr) c.79043A>C (p.Lys26348Thr) c.105086A>C (p.Lys35029Thr) c.100484A>C (p.Lys33495Thr) c.100481A>C (p.Lys33494Thr) c.97523A>C (p.Lys32508Thr) c.79139A>C (p.Lys26380Thr) c.100634A>C (p.Lys33545Thr) c.100631A>C (p.Lys33544Thr) c.100064A>C (p.Lys33355Thr) c.97406A>C (p.Lys32469Thr) c.97325A>C (p.Lys32442Thr) c.79088A>C (p.Lys26363Thr) c.68942A>C (p.Lys22981Thr) | |
2 | g.178530423T>A | CA349406680 | TTN,TTN-AS1 | c.98488A>T (p.Lys32830Ter) c.79573A>T (p.Lys26525Ter) c.79372A>T (p.Lys26458Ter) c.78997A>T (p.Lys26333Ter) c.106192A>T (p.Lys35398Ter) c.101269A>T (p.Lys33757Ter) n.446+6787T>A n.220-5309T>A c.105289A>T (p.Lys35097Ter) c.79183A>T (p.Lys26395Ter) c.79042A>T (p.Lys26348Ter) c.105085A>T (p.Lys35029Ter) c.100483A>T (p.Lys33495Ter) c.100480A>T (p.Lys33494Ter) c.97522A>T (p.Lys32508Ter) c.79138A>T (p.Lys26380Ter) c.100633A>T (p.Lys33545Ter) c.100630A>T (p.Lys33544Ter) c.100063A>T (p.Lys33355Ter) c.97405A>T (p.Lys32469Ter) c.97324A>T (p.Lys32442Ter) c.79087A>T (p.Lys26363Ter) c.68941A>T (p.Lys22981Ter) | |
2 | g.178530423T>C | CA349406682 | TTN,TTN-AS1 | c.98488A>G (p.Lys32830Glu) c.79573A>G (p.Lys26525Glu) c.79372A>G (p.Lys26458Glu) c.78997A>G (p.Lys26333Glu) c.106192A>G (p.Lys35398Glu) c.101269A>G (p.Lys33757Glu) n.446+6787T>C n.220-5309T>C c.105289A>G (p.Lys35097Glu) c.79183A>G (p.Lys26395Glu) c.79042A>G (p.Lys26348Glu) c.105085A>G (p.Lys35029Glu) c.100483A>G (p.Lys33495Glu) c.100480A>G (p.Lys33494Glu) c.97522A>G (p.Lys32508Glu) c.79138A>G (p.Lys26380Glu) c.100633A>G (p.Lys33545Glu) c.100630A>G (p.Lys33544Glu) c.100063A>G (p.Lys33355Glu) c.97405A>G (p.Lys32469Glu) c.97324A>G (p.Lys32442Glu) c.79087A>G (p.Lys26363Glu) c.68941A>G (p.Lys22981Glu) | gnomAD v4 |
2 | g.178530423T>G | CA349406684 | TTN,TTN-AS1 | c.98488A>C (p.Lys32830Gln) c.79573A>C (p.Lys26525Gln) c.79372A>C (p.Lys26458Gln) c.78997A>C (p.Lys26333Gln) c.106192A>C (p.Lys35398Gln) c.101269A>C (p.Lys33757Gln) n.446+6787T>G n.220-5309T>G c.105289A>C (p.Lys35097Gln) c.79183A>C (p.Lys26395Gln) c.79042A>C (p.Lys26348Gln) c.105085A>C (p.Lys35029Gln) c.100483A>C (p.Lys33495Gln) c.100480A>C (p.Lys33494Gln) c.97522A>C (p.Lys32508Gln) c.79138A>C (p.Lys26380Gln) c.100633A>C (p.Lys33545Gln) c.100630A>C (p.Lys33544Gln) c.100063A>C (p.Lys33355Gln) c.97405A>C (p.Lys32469Gln) c.97324A>C (p.Lys32442Gln) c.79087A>C (p.Lys26363Gln) c.68941A>C (p.Lys22981Gln) | |
2 | g.178530424C>A | CA349406687 | TTN,TTN-AS1 | c.98487G>T (p.Gln32829His) c.79572G>T (p.Gln26524His) c.79371G>T (p.Gln26457His) c.78996G>T (p.Gln26332His) c.106191G>T (p.Gln35397His) c.101268G>T (p.Gln33756His) n.446+6788C>A n.220-5308C>A c.105288G>T (p.Gln35096His) c.79182G>T (p.Gln26394His) c.79041G>T (p.Gln26347His) c.105084G>T (p.Gln35028His) c.100482G>T (p.Gln33494His) c.100479G>T (p.Gln33493His) c.97521G>T (p.Gln32507His) c.79137G>T (p.Gln26379His) c.100632G>T (p.Gln33544His) c.100629G>T (p.Gln33543His) c.100062G>T (p.Gln33354His) c.97404G>T (p.Gln32468His) c.97323G>T (p.Gln32441His) c.79086G>T (p.Gln26362His) c.68940G>T (p.Gln22980His) | |
2 | g.178530424C= | CA1310514620 | TTN,TTN-AS1 | c.98487G= (p.Gln32829=) c.79572G= (p.Gln26524=) c.79371G= (p.Gln26457=) c.78996G= (p.Gln26332=) c.106191G= (p.Gln35397=) c.101268G= (p.Gln33756=) n.446+6788C= n.220-5308C= c.105288G= (p.Gln35096=) c.79182G= (p.Gln26394=) c.79041G= (p.Gln26347=) c.105084G= (p.Gln35028=) c.100482G= (p.Gln33494=) c.100479G= (p.Gln33493=) c.97521G= (p.Gln32507=) c.79137G= (p.Gln26379=) c.100632G= (p.Gln33544=) c.100629G= (p.Gln33543=) c.100062G= (p.Gln33354=) c.97404G= (p.Gln32468=) c.97323G= (p.Gln32441=) c.79086G= (p.Gln26362=) c.68940G= (p.Gln22980=) | |
2 | g.178530424C>G | CA1985149 | TTN,TTN-AS1 | c.98487G>C (p.Gln32829His) c.79572G>C (p.Gln26524His) c.79371G>C (p.Gln26457His) c.78996G>C (p.Gln26332His) c.106191G>C (p.Gln35397His) c.101268G>C (p.Gln33756His) n.446+6788C>G n.220-5308C>G c.105288G>C (p.Gln35096His) c.79182G>C (p.Gln26394His) c.79041G>C (p.Gln26347His) c.105084G>C (p.Gln35028His) c.100482G>C (p.Gln33494His) c.100479G>C (p.Gln33493His) c.97521G>C (p.Gln32507His) c.79137G>C (p.Gln26379His) c.100632G>C (p.Gln33544His) c.100629G>C (p.Gln33543His) c.100062G>C (p.Gln33354His) c.97404G>C (p.Gln32468His) c.97323G>C (p.Gln32441His) c.79086G>C (p.Gln26362His) c.68940G>C (p.Gln22980His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178530424C>T | CA430235333 | TTN,TTN-AS1 | c.98487G>A (p.Gln32829=) c.79572G>A (p.Gln26524=) c.79371G>A (p.Gln26457=) c.78996G>A (p.Gln26332=) c.106191G>A (p.Gln35397=) c.101268G>A (p.Gln33756=) n.446+6788C>T n.220-5308C>T c.105288G>A (p.Gln35096=) c.79182G>A (p.Gln26394=) c.79041G>A (p.Gln26347=) c.105084G>A (p.Gln35028=) c.100482G>A (p.Gln33494=) c.100479G>A (p.Gln33493=) c.97521G>A (p.Gln32507=) c.79137G>A (p.Gln26379=) c.100632G>A (p.Gln33544=) c.100629G>A (p.Gln33543=) c.100062G>A (p.Gln33354=) c.97404G>A (p.Gln32468=) c.97323G>A (p.Gln32441=) c.79086G>A (p.Gln26362=) c.68940G>A (p.Gln22980=) | |
2 | g.178530425T>A | CA349406692 | TTN,TTN-AS1 | c.98486A>T (p.Gln32829Leu) c.79571A>T (p.Gln26524Leu) c.79370A>T (p.Gln26457Leu) c.78995A>T (p.Gln26332Leu) c.106190A>T (p.Gln35397Leu) c.101267A>T (p.Gln33756Leu) n.446+6789T>A n.220-5307T>A c.105287A>T (p.Gln35096Leu) c.79181A>T (p.Gln26394Leu) c.79040A>T (p.Gln26347Leu) c.105083A>T (p.Gln35028Leu) c.100481A>T (p.Gln33494Leu) c.100478A>T (p.Gln33493Leu) c.97520A>T (p.Gln32507Leu) c.79136A>T (p.Gln26379Leu) c.100631A>T (p.Gln33544Leu) c.100628A>T (p.Gln33543Leu) c.100061A>T (p.Gln33354Leu) c.97403A>T (p.Gln32468Leu) c.97322A>T (p.Gln32441Leu) c.79085A>T (p.Gln26362Leu) c.68939A>T (p.Gln22980Leu) | |
2 | g.178530425T>C | CA349406696 | TTN,TTN-AS1 | c.98486A>G (p.Gln32829Arg) c.79571A>G (p.Gln26524Arg) c.79370A>G (p.Gln26457Arg) c.78995A>G (p.Gln26332Arg) c.106190A>G (p.Gln35397Arg) c.101267A>G (p.Gln33756Arg) n.446+6789T>C n.220-5307T>C c.105287A>G (p.Gln35096Arg) c.79181A>G (p.Gln26394Arg) c.79040A>G (p.Gln26347Arg) c.105083A>G (p.Gln35028Arg) c.100481A>G (p.Gln33494Arg) c.100478A>G (p.Gln33493Arg) c.97520A>G (p.Gln32507Arg) c.79136A>G (p.Gln26379Arg) c.100631A>G (p.Gln33544Arg) c.100628A>G (p.Gln33543Arg) c.100061A>G (p.Gln33354Arg) c.97403A>G (p.Gln32468Arg) c.97322A>G (p.Gln32441Arg) c.79085A>G (p.Gln26362Arg) c.68939A>G (p.Gln22980Arg) | |
2 | g.178530425T>G | CA349406694 | TTN,TTN-AS1 | c.98486A>C (p.Gln32829Pro) c.79571A>C (p.Gln26524Pro) c.79370A>C (p.Gln26457Pro) c.78995A>C (p.Gln26332Pro) c.106190A>C (p.Gln35397Pro) c.101267A>C (p.Gln33756Pro) n.446+6789T>G n.220-5307T>G c.105287A>C (p.Gln35096Pro) c.79181A>C (p.Gln26394Pro) c.79040A>C (p.Gln26347Pro) c.105083A>C (p.Gln35028Pro) c.100481A>C (p.Gln33494Pro) c.100478A>C (p.Gln33493Pro) c.97520A>C (p.Gln32507Pro) c.79136A>C (p.Gln26379Pro) c.100631A>C (p.Gln33544Pro) c.100628A>C (p.Gln33543Pro) c.100061A>C (p.Gln33354Pro) c.97403A>C (p.Gln32468Pro) c.97322A>C (p.Gln32441Pro) c.79085A>C (p.Gln26362Pro) c.68939A>C (p.Gln22980Pro) | |
2 | g.178530426G>A | CA349406699 | TTN,TTN-AS1 | c.98485C>T (p.Gln32829Ter) c.79570C>T (p.Gln26524Ter) c.79369C>T (p.Gln26457Ter) c.78994C>T (p.Gln26332Ter) c.106189C>T (p.Gln35397Ter) c.101266C>T (p.Gln33756Ter) n.446+6790G>A n.220-5306G>A c.105286C>T (p.Gln35096Ter) c.79180C>T (p.Gln26394Ter) c.79039C>T (p.Gln26347Ter) c.105082C>T (p.Gln35028Ter) c.100480C>T (p.Gln33494Ter) c.100477C>T (p.Gln33493Ter) c.97519C>T (p.Gln32507Ter) c.79135C>T (p.Gln26379Ter) c.100630C>T (p.Gln33544Ter) c.100627C>T (p.Gln33543Ter) c.100060C>T (p.Gln33354Ter) c.97402C>T (p.Gln32468Ter) c.97321C>T (p.Gln32441Ter) c.79084C>T (p.Gln26362Ter) c.68938C>T (p.Gln22980Ter) | ClinVar |
2 | g.178530426G>C | CA349406700 | TTN,TTN-AS1 | c.98485C>G (p.Gln32829Glu) c.79570C>G (p.Gln26524Glu) c.79369C>G (p.Gln26457Glu) c.78994C>G (p.Gln26332Glu) c.106189C>G (p.Gln35397Glu) c.101266C>G (p.Gln33756Glu) n.446+6790G>C n.220-5306G>C c.105286C>G (p.Gln35096Glu) c.79180C>G (p.Gln26394Glu) c.79039C>G (p.Gln26347Glu) c.105082C>G (p.Gln35028Glu) c.100480C>G (p.Gln33494Glu) c.100477C>G (p.Gln33493Glu) c.97519C>G (p.Gln32507Glu) c.79135C>G (p.Gln26379Glu) c.100630C>G (p.Gln33544Glu) c.100627C>G (p.Gln33543Glu) c.100060C>G (p.Gln33354Glu) c.97402C>G (p.Gln32468Glu) c.97321C>G (p.Gln32441Glu) c.79084C>G (p.Gln26362Glu) c.68938C>G (p.Gln22980Glu) | |
2 | g.178530426G>T | CA349406703 | TTN,TTN-AS1 | c.98485C>A (p.Gln32829Lys) c.79570C>A (p.Gln26524Lys) c.79369C>A (p.Gln26457Lys) c.78994C>A (p.Gln26332Lys) c.106189C>A (p.Gln35397Lys) c.101266C>A (p.Gln33756Lys) n.446+6790G>T n.220-5306G>T c.105286C>A (p.Gln35096Lys) c.79180C>A (p.Gln26394Lys) c.79039C>A (p.Gln26347Lys) c.105082C>A (p.Gln35028Lys) c.100480C>A (p.Gln33494Lys) c.100477C>A (p.Gln33493Lys) c.97519C>A (p.Gln32507Lys) c.79135C>A (p.Gln26379Lys) c.100630C>A (p.Gln33544Lys) c.100627C>A (p.Gln33543Lys) c.100060C>A (p.Gln33354Lys) c.97402C>A (p.Gln32468Lys) c.97321C>A (p.Gln32441Lys) c.79084C>A (p.Gln26362Lys) c.68938C>A (p.Gln22980Lys) | |
2 | g.178530427A= | CA1310514623 | TTN,TTN-AS1 | c.98484T= (p.Asp32828=) c.79569T= (p.Asp26523=) c.79368T= (p.Asp26456=) c.78993T= (p.Asp26331=) c.106188T= (p.Asp35396=) c.101265T= (p.Asp33755=) n.446+6791A= n.220-5305A= c.105285T= (p.Asp35095=) c.79179T= (p.Asp26393=) c.79038T= (p.Asp26346=) c.105081T= (p.Asp35027=) c.100479T= (p.Asp33493=) c.100476T= (p.Asp33492=) c.97518T= (p.Asp32506=) c.79134T= (p.Asp26378=) c.100629T= (p.Asp33543=) c.100626T= (p.Asp33542=) c.100059T= (p.Asp33353=) c.97401T= (p.Asp32467=) c.97320T= (p.Asp32440=) c.79083T= (p.Asp26361=) c.68937T= (p.Asp22979=) | |
2 | g.178530427A>C | CA349406705 | TTN,TTN-AS1 | c.98484T>G (p.Asp32828Glu) c.79569T>G (p.Asp26523Glu) c.79368T>G (p.Asp26456Glu) c.78993T>G (p.Asp26331Glu) c.106188T>G (p.Asp35396Glu) c.101265T>G (p.Asp33755Glu) n.446+6791A>C n.220-5305A>C c.105285T>G (p.Asp35095Glu) c.79179T>G (p.Asp26393Glu) c.79038T>G (p.Asp26346Glu) c.105081T>G (p.Asp35027Glu) c.100479T>G (p.Asp33493Glu) c.100476T>G (p.Asp33492Glu) c.97518T>G (p.Asp32506Glu) c.79134T>G (p.Asp26378Glu) c.100629T>G (p.Asp33543Glu) c.100626T>G (p.Asp33542Glu) c.100059T>G (p.Asp33353Glu) c.97401T>G (p.Asp32467Glu) c.97320T>G (p.Asp32440Glu) c.79083T>G (p.Asp26361Glu) c.68937T>G (p.Asp22979Glu) | |
2 | g.178530427A>G | CA1985150 | TTN,TTN-AS1 | c.98484T>C (p.Asp32828=) c.79569T>C (p.Asp26523=) c.79368T>C (p.Asp26456=) c.78993T>C (p.Asp26331=) c.106188T>C (p.Asp35396=) c.101265T>C (p.Asp33755=) n.446+6791A>G n.220-5305A>G c.105285T>C (p.Asp35095=) c.79179T>C (p.Asp26393=) c.79038T>C (p.Asp26346=) c.105081T>C (p.Asp35027=) c.100479T>C (p.Asp33493=) c.100476T>C (p.Asp33492=) c.97518T>C (p.Asp32506=) c.79134T>C (p.Asp26378=) c.100629T>C (p.Asp33543=) c.100626T>C (p.Asp33542=) c.100059T>C (p.Asp33353=) c.97401T>C (p.Asp32467=) c.97320T>C (p.Asp32440=) c.79083T>C (p.Asp26361=) c.68937T>C (p.Asp22979=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.178530427A>T | CA349406709 | TTN,TTN-AS1 | c.98484T>A (p.Asp32828Glu) c.79569T>A (p.Asp26523Glu) c.79368T>A (p.Asp26456Glu) c.78993T>A (p.Asp26331Glu) c.106188T>A (p.Asp35396Glu) c.101265T>A (p.Asp33755Glu) n.446+6791A>T n.220-5305A>T c.105285T>A (p.Asp35095Glu) c.79179T>A (p.Asp26393Glu) c.79038T>A (p.Asp26346Glu) c.105081T>A (p.Asp35027Glu) c.100479T>A (p.Asp33493Glu) c.100476T>A (p.Asp33492Glu) c.97518T>A (p.Asp32506Glu) c.79134T>A (p.Asp26378Glu) c.100629T>A (p.Asp33543Glu) c.100626T>A (p.Asp33542Glu) c.100059T>A (p.Asp33353Glu) c.97401T>A (p.Asp32467Glu) c.97320T>A (p.Asp32440Glu) c.79083T>A (p.Asp26361Glu) c.68937T>A (p.Asp22979Glu) | ClinVar dbSNP gnomAD v4 |
2 | g.178530428T>A | CA349406711 | TTN,TTN-AS1 | c.98483A>T (p.Asp32828Val) c.79568A>T (p.Asp26523Val) c.79367A>T (p.Asp26456Val) c.78992A>T (p.Asp26331Val) c.106187A>T (p.Asp35396Val) c.101264A>T (p.Asp33755Val) n.446+6792T>A n.220-5304T>A c.105284A>T (p.Asp35095Val) c.79178A>T (p.Asp26393Val) c.79037A>T (p.Asp26346Val) c.105080A>T (p.Asp35027Val) c.100478A>T (p.Asp33493Val) c.100475A>T (p.Asp33492Val) c.97517A>T (p.Asp32506Val) c.79133A>T (p.Asp26378Val) c.100628A>T (p.Asp33543Val) c.100625A>T (p.Asp33542Val) c.100058A>T (p.Asp33353Val) c.97400A>T (p.Asp32467Val) c.97319A>T (p.Asp32440Val) c.79082A>T (p.Asp26361Val) c.68936A>T (p.Asp22979Val) | |
2 | g.178530428T>C | CA349406713 | TTN,TTN-AS1 | c.98483A>G (p.Asp32828Gly) c.79568A>G (p.Asp26523Gly) c.79367A>G (p.Asp26456Gly) c.78992A>G (p.Asp26331Gly) c.106187A>G (p.Asp35396Gly) c.101264A>G (p.Asp33755Gly) n.446+6792T>C n.220-5304T>C c.105284A>G (p.Asp35095Gly) c.79178A>G (p.Asp26393Gly) c.79037A>G (p.Asp26346Gly) c.105080A>G (p.Asp35027Gly) c.100478A>G (p.Asp33493Gly) c.100475A>G (p.Asp33492Gly) c.97517A>G (p.Asp32506Gly) c.79133A>G (p.Asp26378Gly) c.100628A>G (p.Asp33543Gly) c.100625A>G (p.Asp33542Gly) c.100058A>G (p.Asp33353Gly) c.97400A>G (p.Asp32467Gly) c.97319A>G (p.Asp32440Gly) c.79082A>G (p.Asp26361Gly) c.68936A>G (p.Asp22979Gly) | |
2 | g.178530428T>G | CA349406715 | TTN,TTN-AS1 | c.98483A>C (p.Asp32828Ala) c.79568A>C (p.Asp26523Ala) c.79367A>C (p.Asp26456Ala) c.78992A>C (p.Asp26331Ala) c.106187A>C (p.Asp35396Ala) c.101264A>C (p.Asp33755Ala) n.446+6792T>G n.220-5304T>G c.105284A>C (p.Asp35095Ala) c.79178A>C (p.Asp26393Ala) c.79037A>C (p.Asp26346Ala) c.105080A>C (p.Asp35027Ala) c.100478A>C (p.Asp33493Ala) c.100475A>C (p.Asp33492Ala) c.97517A>C (p.Asp32506Ala) c.79133A>C (p.Asp26378Ala) c.100628A>C (p.Asp33543Ala) c.100625A>C (p.Asp33542Ala) c.100058A>C (p.Asp33353Ala) c.97400A>C (p.Asp32467Ala) c.97319A>C (p.Asp32440Ala) c.79082A>C (p.Asp26361Ala) c.68936A>C (p.Asp22979Ala) | |
2 | g.178530429C>A | CA349406721 | TTN,TTN-AS1 | c.98482G>T (p.Asp32828Tyr) c.79567G>T (p.Asp26523Tyr) c.79366G>T (p.Asp26456Tyr) c.78991G>T (p.Asp26331Tyr) c.106186G>T (p.Asp35396Tyr) c.101263G>T (p.Asp33755Tyr) n.446+6793C>A n.220-5303C>A c.105283G>T (p.Asp35095Tyr) c.79177G>T (p.Asp26393Tyr) c.79036G>T (p.Asp26346Tyr) c.105079G>T (p.Asp35027Tyr) c.100477G>T (p.Asp33493Tyr) c.100474G>T (p.Asp33492Tyr) c.97516G>T (p.Asp32506Tyr) c.79132G>T (p.Asp26378Tyr) c.100627G>T (p.Asp33543Tyr) c.100624G>T (p.Asp33542Tyr) c.100057G>T (p.Asp33353Tyr) c.97399G>T (p.Asp32467Tyr) c.97318G>T (p.Asp32440Tyr) c.79081G>T (p.Asp26361Tyr) c.68935G>T (p.Asp22979Tyr) | |
2 | g.178530429C= | CA1310514626 | TTN,TTN-AS1 | c.98482G= (p.Asp32828=) c.79567G= (p.Asp26523=) c.79366G= (p.Asp26456=) c.78991G= (p.Asp26331=) c.106186G= (p.Asp35396=) c.101263G= (p.Asp33755=) n.446+6793C= n.220-5303C= c.105283G= (p.Asp35095=) c.79177G= (p.Asp26393=) c.79036G= (p.Asp26346=) c.105079G= (p.Asp35027=) c.100477G= (p.Asp33493=) c.100474G= (p.Asp33492=) c.97516G= (p.Asp32506=) c.79132G= (p.Asp26378=) c.100627G= (p.Asp33543=) c.100624G= (p.Asp33542=) c.100057G= (p.Asp33353=) c.97399G= (p.Asp32467=) c.97318G= (p.Asp32440=) c.79081G= (p.Asp26361=) c.68935G= (p.Asp22979=) | |
2 | g.178530429C>G | CA349406720 | TTN,TTN-AS1 | c.98482G>C (p.Asp32828His) c.79567G>C (p.Asp26523His) c.79366G>C (p.Asp26456His) c.78991G>C (p.Asp26331His) c.106186G>C (p.Asp35396His) c.101263G>C (p.Asp33755His) n.446+6793C>G n.220-5303C>G c.105283G>C (p.Asp35095His) c.79177G>C (p.Asp26393His) c.79036G>C (p.Asp26346His) c.105079G>C (p.Asp35027His) c.100477G>C (p.Asp33493His) c.100474G>C (p.Asp33492His) c.97516G>C (p.Asp32506His) c.79132G>C (p.Asp26378His) c.100627G>C (p.Asp33543His) c.100624G>C (p.Asp33542His) c.100057G>C (p.Asp33353His) c.97399G>C (p.Asp32467His) c.97318G>C (p.Asp32440His) c.79081G>C (p.Asp26361His) c.68935G>C (p.Asp22979His) | dbSNP gnomAD v2 |
2 | g.178530429C>T | CA349406718 | TTN,TTN-AS1 | c.98482G>A (p.Asp32828Asn) c.79567G>A (p.Asp26523Asn) c.79366G>A (p.Asp26456Asn) c.78991G>A (p.Asp26331Asn) c.106186G>A (p.Asp35396Asn) c.101263G>A (p.Asp33755Asn) n.446+6793C>T n.220-5303C>T c.105283G>A (p.Asp35095Asn) c.79177G>A (p.Asp26393Asn) c.79036G>A (p.Asp26346Asn) c.105079G>A (p.Asp35027Asn) c.100477G>A (p.Asp33493Asn) c.100474G>A (p.Asp33492Asn) c.97516G>A (p.Asp32506Asn) c.79132G>A (p.Asp26378Asn) c.100627G>A (p.Asp33543Asn) c.100624G>A (p.Asp33542Asn) c.100057G>A (p.Asp33353Asn) c.97399G>A (p.Asp32467Asn) c.97318G>A (p.Asp32440Asn) c.79081G>A (p.Asp26361Asn) c.68935G>A (p.Asp22979Asn) | ClinVar gnomAD v4 |
2 | g.178530430T>A | CA430235346 | TTN,TTN-AS1 | c.98481A>T (p.Ser32827=) c.79566A>T (p.Ser26522=) c.79365A>T (p.Ser26455=) c.78990A>T (p.Ser26330=) c.106185A>T (p.Ser35395=) c.101262A>T (p.Ser33754=) n.446+6794T>A n.220-5302T>A c.105282A>T (p.Ser35094=) c.79176A>T (p.Ser26392=) c.79035A>T (p.Ser26345=) c.105078A>T (p.Ser35026=) c.100476A>T (p.Ser33492=) c.100473A>T (p.Ser33491=) c.97515A>T (p.Ser32505=) c.79131A>T (p.Ser26377=) c.100626A>T (p.Ser33542=) c.100623A>T (p.Ser33541=) c.100056A>T (p.Ser33352=) c.97398A>T (p.Ser32466=) c.97317A>T (p.Ser32439=) c.79080A>T (p.Ser26360=) c.68934A>T (p.Ser22978=) | |
2 | g.178530430T>C | CA430235347 | TTN,TTN-AS1 | c.98481A>G (p.Ser32827=) c.79566A>G (p.Ser26522=) c.79365A>G (p.Ser26455=) c.78990A>G (p.Ser26330=) c.106185A>G (p.Ser35395=) c.101262A>G (p.Ser33754=) n.446+6794T>C n.220-5302T>C c.105282A>G (p.Ser35094=) c.79176A>G (p.Ser26392=) c.79035A>G (p.Ser26345=) c.105078A>G (p.Ser35026=) c.100476A>G (p.Ser33492=) c.100473A>G (p.Ser33491=) c.97515A>G (p.Ser32505=) c.79131A>G (p.Ser26377=) c.100626A>G (p.Ser33542=) c.100623A>G (p.Ser33541=) c.100056A>G (p.Ser33352=) c.97398A>G (p.Ser32466=) c.97317A>G (p.Ser32439=) c.79080A>G (p.Ser26360=) c.68934A>G (p.Ser22978=) | |
2 | g.178530430T>G | CA430235348 | TTN,TTN-AS1 | c.98481A>C (p.Ser32827=) c.79566A>C (p.Ser26522=) c.79365A>C (p.Ser26455=) c.78990A>C (p.Ser26330=) c.106185A>C (p.Ser35395=) c.101262A>C (p.Ser33754=) n.446+6794T>G n.220-5302T>G c.105282A>C (p.Ser35094=) c.79176A>C (p.Ser26392=) c.79035A>C (p.Ser26345=) c.105078A>C (p.Ser35026=) c.100476A>C (p.Ser33492=) c.100473A>C (p.Ser33491=) c.97515A>C (p.Ser32505=) c.79131A>C (p.Ser26377=) c.100626A>C (p.Ser33542=) c.100623A>C (p.Ser33541=) c.100056A>C (p.Ser33352=) c.97398A>C (p.Ser32466=) c.97317A>C (p.Ser32439=) c.79080A>C (p.Ser26360=) c.68934A>C (p.Ser22978=) | |
2 | g.178530431G>A | CA1985151 | TTN,TTN-AS1 | c.98480C>T (p.Ser32827Leu) c.79565C>T (p.Ser26522Leu) c.79364C>T (p.Ser26455Leu) c.78989C>T (p.Ser26330Leu) c.106184C>T (p.Ser35395Leu) c.101261C>T (p.Ser33754Leu) n.446+6795G>A n.220-5301G>A c.105281C>T (p.Ser35094Leu) c.79175C>T (p.Ser26392Leu) c.79034C>T (p.Ser26345Leu) c.105077C>T (p.Ser35026Leu) c.100475C>T (p.Ser33492Leu) c.100472C>T (p.Ser33491Leu) c.97514C>T (p.Ser32505Leu) c.79130C>T (p.Ser26377Leu) c.100625C>T (p.Ser33542Leu) c.100622C>T (p.Ser33541Leu) c.100055C>T (p.Ser33352Leu) c.97397C>T (p.Ser32466Leu) c.97316C>T (p.Ser32439Leu) c.79079C>T (p.Ser26360Leu) c.68933C>T (p.Ser22978Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.178530431G>C | CA349406726 | TTN,TTN-AS1 | c.98480C>G (p.Ser32827Ter) c.79565C>G (p.Ser26522Ter) c.79364C>G (p.Ser26455Ter) c.78989C>G (p.Ser26330Ter) c.106184C>G (p.Ser35395Ter) c.101261C>G (p.Ser33754Ter) n.446+6795G>C n.220-5301G>C c.105281C>G (p.Ser35094Ter) c.79175C>G (p.Ser26392Ter) c.79034C>G (p.Ser26345Ter) c.105077C>G (p.Ser35026Ter) c.100475C>G (p.Ser33492Ter) c.100472C>G (p.Ser33491Ter) c.97514C>G (p.Ser32505Ter) c.79130C>G (p.Ser26377Ter) c.100625C>G (p.Ser33542Ter) c.100622C>G (p.Ser33541Ter) c.100055C>G (p.Ser33352Ter) c.97397C>G (p.Ser32466Ter) c.97316C>G (p.Ser32439Ter) c.79079C>G (p.Ser26360Ter) c.68933C>G (p.Ser22978Ter) | |
2 | g.178530431G= | CA1310514628 | TTN,TTN-AS1 | c.98480C= (p.Ser32827=) c.79565C= (p.Ser26522=) c.79364C= (p.Ser26455=) c.78989C= (p.Ser26330=) c.106184C= (p.Ser35395=) c.101261C= (p.Ser33754=) n.446+6795G= n.220-5301G= c.105281C= (p.Ser35094=) c.79175C= (p.Ser26392=) c.79034C= (p.Ser26345=) c.105077C= (p.Ser35026=) c.100475C= (p.Ser33492=) c.100472C= (p.Ser33491=) c.97514C= (p.Ser32505=) c.79130C= (p.Ser26377=) c.100625C= (p.Ser33542=) c.100622C= (p.Ser33541=) c.100055C= (p.Ser33352=) c.97397C= (p.Ser32466=) c.97316C= (p.Ser32439=) c.79079C= (p.Ser26360=) c.68933C= (p.Ser22978=) | |
2 | g.178530431G>T | CA349406728 | TTN,TTN-AS1 | c.98480C>A (p.Ser32827Ter) c.79565C>A (p.Ser26522Ter) c.79364C>A (p.Ser26455Ter) c.78989C>A (p.Ser26330Ter) c.106184C>A (p.Ser35395Ter) c.101261C>A (p.Ser33754Ter) n.446+6795G>T n.220-5301G>T c.105281C>A (p.Ser35094Ter) c.79175C>A (p.Ser26392Ter) c.79034C>A (p.Ser26345Ter) c.105077C>A (p.Ser35026Ter) c.100475C>A (p.Ser33492Ter) c.100472C>A (p.Ser33491Ter) c.97514C>A (p.Ser32505Ter) c.79130C>A (p.Ser26377Ter) c.100625C>A (p.Ser33542Ter) c.100622C>A (p.Ser33541Ter) c.100055C>A (p.Ser33352Ter) c.97397C>A (p.Ser32466Ter) c.97316C>A (p.Ser32439Ter) c.79079C>A (p.Ser26360Ter) c.68933C>A (p.Ser22978Ter) | |
2 | g.178530432A>C | CA349406730 | TTN,TTN-AS1 | c.98479T>G (p.Ser32827Ala) c.79564T>G (p.Ser26522Ala) c.79363T>G (p.Ser26455Ala) c.78988T>G (p.Ser26330Ala) c.106183T>G (p.Ser35395Ala) c.101260T>G (p.Ser33754Ala) n.446+6796A>C n.220-5300A>C c.105280T>G (p.Ser35094Ala) c.79174T>G (p.Ser26392Ala) c.79033T>G (p.Ser26345Ala) c.105076T>G (p.Ser35026Ala) c.100474T>G (p.Ser33492Ala) c.100471T>G (p.Ser33491Ala) c.97513T>G (p.Ser32505Ala) c.79129T>G (p.Ser26377Ala) c.100624T>G (p.Ser33542Ala) c.100621T>G (p.Ser33541Ala) c.100054T>G (p.Ser33352Ala) c.97396T>G (p.Ser32466Ala) c.97315T>G (p.Ser32439Ala) c.79078T>G (p.Ser26360Ala) c.68932T>G (p.Ser22978Ala) | |
2 | g.178530432A>G | CA349406732 | TTN,TTN-AS1 | c.98479T>C (p.Ser32827Pro) c.79564T>C (p.Ser26522Pro) c.79363T>C (p.Ser26455Pro) c.78988T>C (p.Ser26330Pro) c.106183T>C (p.Ser35395Pro) c.101260T>C (p.Ser33754Pro) n.446+6796A>G n.220-5300A>G c.105280T>C (p.Ser35094Pro) c.79174T>C (p.Ser26392Pro) c.79033T>C (p.Ser26345Pro) c.105076T>C (p.Ser35026Pro) c.100474T>C (p.Ser33492Pro) c.100471T>C (p.Ser33491Pro) c.97513T>C (p.Ser32505Pro) c.79129T>C (p.Ser26377Pro) c.100624T>C (p.Ser33542Pro) c.100621T>C (p.Ser33541Pro) c.100054T>C (p.Ser33352Pro) c.97396T>C (p.Ser32466Pro) c.97315T>C (p.Ser32439Pro) c.79078T>C (p.Ser26360Pro) c.68932T>C (p.Ser22978Pro) | |
2 | g.178530432A>T | CA349406734 | TTN,TTN-AS1 | c.98479T>A (p.Ser32827Thr) c.79564T>A (p.Ser26522Thr) c.79363T>A (p.Ser26455Thr) c.78988T>A (p.Ser26330Thr) c.106183T>A (p.Ser35395Thr) c.101260T>A (p.Ser33754Thr) n.446+6796A>T n.220-5300A>T c.105280T>A (p.Ser35094Thr) c.79174T>A (p.Ser26392Thr) c.79033T>A (p.Ser26345Thr) c.105076T>A (p.Ser35026Thr) c.100474T>A (p.Ser33492Thr) c.100471T>A (p.Ser33491Thr) c.97513T>A (p.Ser32505Thr) c.79129T>A (p.Ser26377Thr) c.100624T>A (p.Ser33542Thr) c.100621T>A (p.Ser33541Thr) c.100054T>A (p.Ser33352Thr) c.97396T>A (p.Ser32466Thr) c.97315T>A (p.Ser32439Thr) c.79078T>A (p.Ser26360Thr) c.68932T>A (p.Ser22978Thr) | |
2 | g.178530433T>A | CA349406736 | TTN,TTN-AS1 | c.98478A>T (p.Lys32826Asn) c.79563A>T (p.Lys26521Asn) c.79362A>T (p.Lys26454Asn) c.78987A>T (p.Lys26329Asn) c.106182A>T (p.Lys35394Asn) c.101259A>T (p.Lys33753Asn) n.446+6797T>A n.220-5299T>A c.105279A>T (p.Lys35093Asn) c.79173A>T (p.Lys26391Asn) c.79032A>T (p.Lys26344Asn) c.105075A>T (p.Lys35025Asn) c.100473A>T (p.Lys33491Asn) c.100470A>T (p.Lys33490Asn) c.97512A>T (p.Lys32504Asn) c.79128A>T (p.Lys26376Asn) c.100623A>T (p.Lys33541Asn) c.100620A>T (p.Lys33540Asn) c.100053A>T (p.Lys33351Asn) c.97395A>T (p.Lys32465Asn) c.97314A>T (p.Lys32438Asn) c.79077A>T (p.Lys26359Asn) c.68931A>T (p.Lys22977Asn) | |
2 | g.178530433T>C | CA430235354 | TTN,TTN-AS1 | c.98478A>G (p.Lys32826=) c.79563A>G (p.Lys26521=) c.79362A>G (p.Lys26454=) c.78987A>G (p.Lys26329=) c.106182A>G (p.Lys35394=) c.101259A>G (p.Lys33753=) n.446+6797T>C n.220-5299T>C c.105279A>G (p.Lys35093=) c.79173A>G (p.Lys26391=) c.79032A>G (p.Lys26344=) c.105075A>G (p.Lys35025=) c.100473A>G (p.Lys33491=) c.100470A>G (p.Lys33490=) c.97512A>G (p.Lys32504=) c.79128A>G (p.Lys26376=) c.100623A>G (p.Lys33541=) c.100620A>G (p.Lys33540=) c.100053A>G (p.Lys33351=) c.97395A>G (p.Lys32465=) c.97314A>G (p.Lys32438=) c.79077A>G (p.Lys26359=) c.68931A>G (p.Lys22977=) | gnomAD v4 |
2 | g.178530433T>G | CA349406739 | TTN,TTN-AS1 | c.98478A>C (p.Lys32826Asn) c.79563A>C (p.Lys26521Asn) c.79362A>C (p.Lys26454Asn) c.78987A>C (p.Lys26329Asn) c.106182A>C (p.Lys35394Asn) c.101259A>C (p.Lys33753Asn) n.446+6797T>G n.220-5299T>G c.105279A>C (p.Lys35093Asn) c.79173A>C (p.Lys26391Asn) c.79032A>C (p.Lys26344Asn) c.105075A>C (p.Lys35025Asn) c.100473A>C (p.Lys33491Asn) c.100470A>C (p.Lys33490Asn) c.97512A>C (p.Lys32504Asn) c.79128A>C (p.Lys26376Asn) c.100623A>C (p.Lys33541Asn) c.100620A>C (p.Lys33540Asn) c.100053A>C (p.Lys33351Asn) c.97395A>C (p.Lys32465Asn) c.97314A>C (p.Lys32438Asn) c.79077A>C (p.Lys26359Asn) c.68931A>C (p.Lys22977Asn) | |
2 | g.178530434T>A | CA349406741 | TTN,TTN-AS1 | c.98477A>T (p.Lys32826Ile) c.79562A>T (p.Lys26521Ile) c.79361A>T (p.Lys26454Ile) c.78986A>T (p.Lys26329Ile) c.106181A>T (p.Lys35394Ile) c.101258A>T (p.Lys33753Ile) n.446+6798T>A n.220-5298T>A c.105278A>T (p.Lys35093Ile) c.79172A>T (p.Lys26391Ile) c.79031A>T (p.Lys26344Ile) c.105074A>T (p.Lys35025Ile) c.100472A>T (p.Lys33491Ile) c.100469A>T (p.Lys33490Ile) c.97511A>T (p.Lys32504Ile) c.79127A>T (p.Lys26376Ile) c.100622A>T (p.Lys33541Ile) c.100619A>T (p.Lys33540Ile) c.100052A>T (p.Lys33351Ile) c.97394A>T (p.Lys32465Ile) c.97313A>T (p.Lys32438Ile) c.79076A>T (p.Lys26359Ile) c.68930A>T (p.Lys22977Ile) | |
2 | g.178530434T>C | CA349406744 | TTN,TTN-AS1 | c.98477A>G (p.Lys32826Arg) c.79562A>G (p.Lys26521Arg) c.79361A>G (p.Lys26454Arg) c.78986A>G (p.Lys26329Arg) c.106181A>G (p.Lys35394Arg) c.101258A>G (p.Lys33753Arg) n.446+6798T>C n.220-5298T>C c.105278A>G (p.Lys35093Arg) c.79172A>G (p.Lys26391Arg) c.79031A>G (p.Lys26344Arg) c.105074A>G (p.Lys35025Arg) c.100472A>G (p.Lys33491Arg) c.100469A>G (p.Lys33490Arg) c.97511A>G (p.Lys32504Arg) c.79127A>G (p.Lys26376Arg) c.100622A>G (p.Lys33541Arg) c.100619A>G (p.Lys33540Arg) c.100052A>G (p.Lys33351Arg) c.97394A>G (p.Lys32465Arg) c.97313A>G (p.Lys32438Arg) c.79076A>G (p.Lys26359Arg) c.68930A>G (p.Lys22977Arg) | |
2 | g.178530434T>G | CA349406747 | TTN,TTN-AS1 | c.98477A>C (p.Lys32826Thr) c.79562A>C (p.Lys26521Thr) c.79361A>C (p.Lys26454Thr) c.78986A>C (p.Lys26329Thr) c.106181A>C (p.Lys35394Thr) c.101258A>C (p.Lys33753Thr) n.446+6798T>G n.220-5298T>G c.105278A>C (p.Lys35093Thr) c.79172A>C (p.Lys26391Thr) c.79031A>C (p.Lys26344Thr) c.105074A>C (p.Lys35025Thr) c.100472A>C (p.Lys33491Thr) c.100469A>C (p.Lys33490Thr) c.97511A>C (p.Lys32504Thr) c.79127A>C (p.Lys26376Thr) c.100622A>C (p.Lys33541Thr) c.100619A>C (p.Lys33540Thr) c.100052A>C (p.Lys33351Thr) c.97394A>C (p.Lys32465Thr) c.97313A>C (p.Lys32438Thr) c.79076A>C (p.Lys26359Thr) c.68930A>C (p.Lys22977Thr) | |
2 | g.178530435T>A | CA349406749 | TTN,TTN-AS1 | c.98476A>T (p.Lys32826Ter) c.79561A>T (p.Lys26521Ter) c.79360A>T (p.Lys26454Ter) c.78985A>T (p.Lys26329Ter) c.106180A>T (p.Lys35394Ter) c.101257A>T (p.Lys33753Ter) n.446+6799T>A n.220-5297T>A c.105277A>T (p.Lys35093Ter) c.79171A>T (p.Lys26391Ter) c.79030A>T (p.Lys26344Ter) c.105073A>T (p.Lys35025Ter) c.100471A>T (p.Lys33491Ter) c.100468A>T (p.Lys33490Ter) c.97510A>T (p.Lys32504Ter) c.79126A>T (p.Lys26376Ter) c.100621A>T (p.Lys33541Ter) c.100618A>T (p.Lys33540Ter) c.100051A>T (p.Lys33351Ter) c.97393A>T (p.Lys32465Ter) c.97312A>T (p.Lys32438Ter) c.79075A>T (p.Lys26359Ter) c.68929A>T (p.Lys22977Ter) | |
2 | g.178530435T>C | CA349406752 | TTN,TTN-AS1 | c.98476A>G (p.Lys32826Glu) c.79561A>G (p.Lys26521Glu) c.79360A>G (p.Lys26454Glu) c.78985A>G (p.Lys26329Glu) c.106180A>G (p.Lys35394Glu) c.101257A>G (p.Lys33753Glu) n.446+6799T>C n.220-5297T>C c.105277A>G (p.Lys35093Glu) c.79171A>G (p.Lys26391Glu) c.79030A>G (p.Lys26344Glu) c.105073A>G (p.Lys35025Glu) c.100471A>G (p.Lys33491Glu) c.100468A>G (p.Lys33490Glu) c.97510A>G (p.Lys32504Glu) c.79126A>G (p.Lys26376Glu) c.100621A>G (p.Lys33541Glu) c.100618A>G (p.Lys33540Glu) c.100051A>G (p.Lys33351Glu) c.97393A>G (p.Lys32465Glu) c.97312A>G (p.Lys32438Glu) c.79075A>G (p.Lys26359Glu) c.68929A>G (p.Lys22977Glu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178530435T>G | CA1985152 | TTN,TTN-AS1 | c.98476A>C (p.Lys32826Gln) c.79561A>C (p.Lys26521Gln) c.79360A>C (p.Lys26454Gln) c.78985A>C (p.Lys26329Gln) c.106180A>C (p.Lys35394Gln) c.101257A>C (p.Lys33753Gln) n.446+6799T>G n.220-5297T>G c.105277A>C (p.Lys35093Gln) c.79171A>C (p.Lys26391Gln) c.79030A>C (p.Lys26344Gln) c.105073A>C (p.Lys35025Gln) c.100471A>C (p.Lys33491Gln) c.100468A>C (p.Lys33490Gln) c.97510A>C (p.Lys32504Gln) c.79126A>C (p.Lys26376Gln) c.100621A>C (p.Lys33541Gln) c.100618A>C (p.Lys33540Gln) c.100051A>C (p.Lys33351Gln) c.97393A>C (p.Lys32465Gln) c.97312A>C (p.Lys32438Gln) c.79075A>C (p.Lys26359Gln) c.68929A>C (p.Lys22977Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.178530435T= | CA1310514629 | TTN,TTN-AS1 | c.98476A= (p.Lys32826=) c.79561A= (p.Lys26521=) c.79360A= (p.Lys26454=) c.78985A= (p.Lys26329=) c.106180A= (p.Lys35394=) c.101257A= (p.Lys33753=) n.446+6799T= n.220-5297T= c.105277A= (p.Lys35093=) c.79171A= (p.Lys26391=) c.79030A= (p.Lys26344=) c.105073A= (p.Lys35025=) c.100471A= (p.Lys33491=) c.100468A= (p.Lys33490=) c.97510A= (p.Lys32504=) c.79126A= (p.Lys26376=) c.100621A= (p.Lys33541=) c.100618A= (p.Lys33540=) c.100051A= (p.Lys33351=) c.97393A= (p.Lys32465=) c.97312A= (p.Lys32438=) c.79075A= (p.Lys26359=) c.68929A= (p.Lys22977=) | |
2 | g.178530436C>A | CA349406755 | TTN,TTN-AS1 | c.98475G>T (p.Lys32825Asn) c.79560G>T (p.Lys26520Asn) c.79359G>T (p.Lys26453Asn) c.78984G>T (p.Lys26328Asn) c.106179G>T (p.Lys35393Asn) c.101256G>T (p.Lys33752Asn) n.446+6800C>A n.220-5296C>A c.105276G>T (p.Lys35092Asn) c.79170G>T (p.Lys26390Asn) c.79029G>T (p.Lys26343Asn) c.105072G>T (p.Lys35024Asn) c.100470G>T (p.Lys33490Asn) c.100467G>T (p.Lys33489Asn) c.97509G>T (p.Lys32503Asn) c.79125G>T (p.Lys26375Asn) c.100620G>T (p.Lys33540Asn) c.100617G>T (p.Lys33539Asn) c.100050G>T (p.Lys33350Asn) c.97392G>T (p.Lys32464Asn) c.97311G>T (p.Lys32437Asn) c.79074G>T (p.Lys26358Asn) c.68928G>T (p.Lys22976Asn) | |
2 | g.178530436C= | CA1310514631 | TTN,TTN-AS1 | c.98475G= (p.Lys32825=) c.79560G= (p.Lys26520=) c.79359G= (p.Lys26453=) c.78984G= (p.Lys26328=) c.106179G= (p.Lys35393=) c.101256G= (p.Lys33752=) n.446+6800C= n.220-5296C= c.105276G= (p.Lys35092=) c.79170G= (p.Lys26390=) c.79029G= (p.Lys26343=) c.105072G= (p.Lys35024=) c.100470G= (p.Lys33490=) c.100467G= (p.Lys33489=) c.97509G= (p.Lys32503=) c.79125G= (p.Lys26375=) c.100620G= (p.Lys33540=) c.100617G= (p.Lys33539=) c.100050G= (p.Lys33350=) c.97392G= (p.Lys32464=) c.97311G= (p.Lys32437=) c.79074G= (p.Lys26358=) c.68928G= (p.Lys22976=) | |
2 | g.178530436C>G | CA349406757 | TTN,TTN-AS1 | c.98475G>C (p.Lys32825Asn) c.79560G>C (p.Lys26520Asn) c.79359G>C (p.Lys26453Asn) c.78984G>C (p.Lys26328Asn) c.106179G>C (p.Lys35393Asn) c.101256G>C (p.Lys33752Asn) n.446+6800C>G n.220-5296C>G c.105276G>C (p.Lys35092Asn) c.79170G>C (p.Lys26390Asn) c.79029G>C (p.Lys26343Asn) c.105072G>C (p.Lys35024Asn) c.100470G>C (p.Lys33490Asn) c.100467G>C (p.Lys33489Asn) c.97509G>C (p.Lys32503Asn) c.79125G>C (p.Lys26375Asn) c.100620G>C (p.Lys33540Asn) c.100617G>C (p.Lys33539Asn) c.100050G>C (p.Lys33350Asn) c.97392G>C (p.Lys32464Asn) c.97311G>C (p.Lys32437Asn) c.79074G>C (p.Lys26358Asn) c.68928G>C (p.Lys22976Asn) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC |
2 | g.178530436C>T | CA430234987 | TTN,TTN-AS1 | c.98475G>A (p.Lys32825=) c.79560G>A (p.Lys26520=) c.79359G>A (p.Lys26453=) c.78984G>A (p.Lys26328=) c.106179G>A (p.Lys35393=) c.101256G>A (p.Lys33752=) n.446+6800C>T n.220-5296C>T c.105276G>A (p.Lys35092=) c.79170G>A (p.Lys26390=) c.79029G>A (p.Lys26343=) c.105072G>A (p.Lys35024=) c.100470G>A (p.Lys33490=) c.100467G>A (p.Lys33489=) c.97509G>A (p.Lys32503=) c.79125G>A (p.Lys26375=) c.100620G>A (p.Lys33540=) c.100617G>A (p.Lys33539=) c.100050G>A (p.Lys33350=) c.97392G>A (p.Lys32464=) c.97311G>A (p.Lys32437=) c.79074G>A (p.Lys26358=) c.68928G>A (p.Lys22976=) | |
2 | g.178530437T>A | CA349406759 | TTN,TTN-AS1 | c.98474A>T (p.Lys32825Met) c.79559A>T (p.Lys26520Met) c.79358A>T (p.Lys26453Met) c.78983A>T (p.Lys26328Met) c.106178A>T (p.Lys35393Met) c.101255A>T (p.Lys33752Met) n.446+6801T>A n.220-5295T>A c.105275A>T (p.Lys35092Met) c.79169A>T (p.Lys26390Met) c.79028A>T (p.Lys26343Met) c.105071A>T (p.Lys35024Met) c.100469A>T (p.Lys33490Met) c.100466A>T (p.Lys33489Met) c.97508A>T (p.Lys32503Met) c.79124A>T (p.Lys26375Met) c.100619A>T (p.Lys33540Met) c.100616A>T (p.Lys33539Met) c.100049A>T (p.Lys33350Met) c.97391A>T (p.Lys32464Met) c.97310A>T (p.Lys32437Met) c.79073A>T (p.Lys26358Met) c.68927A>T (p.Lys22976Met) | |
2 | g.178530437T>C | CA349406767 | TTN,TTN-AS1 | c.98474A>G (p.Lys32825Arg) c.79559A>G (p.Lys26520Arg) c.79358A>G (p.Lys26453Arg) c.78983A>G (p.Lys26328Arg) c.106178A>G (p.Lys35393Arg) c.101255A>G (p.Lys33752Arg) n.446+6801T>C n.220-5295T>C c.105275A>G (p.Lys35092Arg) c.79169A>G (p.Lys26390Arg) c.79028A>G (p.Lys26343Arg) c.105071A>G (p.Lys35024Arg) c.100469A>G (p.Lys33490Arg) c.100466A>G (p.Lys33489Arg) c.97508A>G (p.Lys32503Arg) c.79124A>G (p.Lys26375Arg) c.100619A>G (p.Lys33540Arg) c.100616A>G (p.Lys33539Arg) c.100049A>G (p.Lys33350Arg) c.97391A>G (p.Lys32464Arg) c.97310A>G (p.Lys32437Arg) c.79073A>G (p.Lys26358Arg) c.68927A>G (p.Lys22976Arg) | |
2 | g.178530437T>G | CA349406769 | TTN,TTN-AS1 | c.98474A>C (p.Lys32825Thr) c.79559A>C (p.Lys26520Thr) c.79358A>C (p.Lys26453Thr) c.78983A>C (p.Lys26328Thr) c.106178A>C (p.Lys35393Thr) c.101255A>C (p.Lys33752Thr) n.446+6801T>G n.220-5295T>G c.105275A>C (p.Lys35092Thr) c.79169A>C (p.Lys26390Thr) c.79028A>C (p.Lys26343Thr) c.105071A>C (p.Lys35024Thr) c.100469A>C (p.Lys33490Thr) c.100466A>C (p.Lys33489Thr) c.97508A>C (p.Lys32503Thr) c.79124A>C (p.Lys26375Thr) c.100619A>C (p.Lys33540Thr) c.100616A>C (p.Lys33539Thr) c.100049A>C (p.Lys33350Thr) c.97391A>C (p.Lys32464Thr) c.97310A>C (p.Lys32437Thr) c.79073A>C (p.Lys26358Thr) c.68927A>C (p.Lys22976Thr) | |
2 | g.178530438T>A | CA349406772 | TTN,TTN-AS1 | c.98473A>T (p.Lys32825Ter) c.79558A>T (p.Lys26520Ter) c.79357A>T (p.Lys26453Ter) c.78982A>T (p.Lys26328Ter) c.106177A>T (p.Lys35393Ter) c.101254A>T (p.Lys33752Ter) n.446+6802T>A n.220-5294T>A c.105274A>T (p.Lys35092Ter) c.79168A>T (p.Lys26390Ter) c.79027A>T (p.Lys26343Ter) c.105070A>T (p.Lys35024Ter) c.100468A>T (p.Lys33490Ter) c.100465A>T (p.Lys33489Ter) c.97507A>T (p.Lys32503Ter) c.79123A>T (p.Lys26375Ter) c.100618A>T (p.Lys33540Ter) c.100615A>T (p.Lys33539Ter) c.100048A>T (p.Lys33350Ter) c.97390A>T (p.Lys32464Ter) c.97309A>T (p.Lys32437Ter) c.79072A>T (p.Lys26358Ter) c.68926A>T (p.Lys22976Ter) | |
2 | g.178530438T>C | CA349406774 | TTN,TTN-AS1 | c.98473A>G (p.Lys32825Glu) c.79558A>G (p.Lys26520Glu) c.79357A>G (p.Lys26453Glu) c.78982A>G (p.Lys26328Glu) c.106177A>G (p.Lys35393Glu) c.101254A>G (p.Lys33752Glu) n.446+6802T>C n.220-5294T>C c.105274A>G (p.Lys35092Glu) c.79168A>G (p.Lys26390Glu) c.79027A>G (p.Lys26343Glu) c.105070A>G (p.Lys35024Glu) c.100468A>G (p.Lys33490Glu) c.100465A>G (p.Lys33489Glu) c.97507A>G (p.Lys32503Glu) c.79123A>G (p.Lys26375Glu) c.100618A>G (p.Lys33540Glu) c.100615A>G (p.Lys33539Glu) c.100048A>G (p.Lys33350Glu) c.97390A>G (p.Lys32464Glu) c.97309A>G (p.Lys32437Glu) c.79072A>G (p.Lys26358Glu) c.68926A>G (p.Lys22976Glu) | |
2 | g.178530438T>G | CA349406776 | TTN,TTN-AS1 | c.98473A>C (p.Lys32825Gln) c.79558A>C (p.Lys26520Gln) c.79357A>C (p.Lys26453Gln) c.78982A>C (p.Lys26328Gln) c.106177A>C (p.Lys35393Gln) c.101254A>C (p.Lys33752Gln) n.446+6802T>G n.220-5294T>G c.105274A>C (p.Lys35092Gln) c.79168A>C (p.Lys26390Gln) c.79027A>C (p.Lys26343Gln) c.105070A>C (p.Lys35024Gln) c.100468A>C (p.Lys33490Gln) c.100465A>C (p.Lys33489Gln) c.97507A>C (p.Lys32503Gln) c.79123A>C (p.Lys26375Gln) c.100618A>C (p.Lys33540Gln) c.100615A>C (p.Lys33539Gln) c.100048A>C (p.Lys33350Gln) c.97390A>C (p.Lys32464Gln) c.97309A>C (p.Lys32437Gln) c.79072A>C (p.Lys26358Gln) c.68926A>C (p.Lys22976Gln) | gnomAD v4 |
2 | g.178530439A>C | CA430234988 | TTN,TTN-AS1 | c.98472T>G (p.Thr32824=) c.79557T>G (p.Thr26519=) c.79356T>G (p.Thr26452=) c.78981T>G (p.Thr26327=) c.106176T>G (p.Thr35392=) c.101253T>G (p.Thr33751=) n.446+6803A>C n.220-5293A>C c.105273T>G (p.Thr35091=) c.79167T>G (p.Thr26389=) c.79026T>G (p.Thr26342=) c.105069T>G (p.Thr35023=) c.100467T>G (p.Thr33489=) c.100464T>G (p.Thr33488=) c.97506T>G (p.Thr32502=) c.79122T>G (p.Thr26374=) c.100617T>G (p.Thr33539=) c.100614T>G (p.Thr33538=) c.100047T>G (p.Thr33349=) c.97389T>G (p.Thr32463=) c.97308T>G (p.Thr32436=) c.79071T>G (p.Thr26357=) c.68925T>G (p.Thr22975=) | |
2 | g.178530439A>G | CA430234989 | TTN,TTN-AS1 | c.98472T>C (p.Thr32824=) c.79557T>C (p.Thr26519=) c.79356T>C (p.Thr26452=) c.78981T>C (p.Thr26327=) c.106176T>C (p.Thr35392=) c.101253T>C (p.Thr33751=) n.446+6803A>G n.220-5293A>G c.105273T>C (p.Thr35091=) c.79167T>C (p.Thr26389=) c.79026T>C (p.Thr26342=) c.105069T>C (p.Thr35023=) c.100467T>C (p.Thr33489=) c.100464T>C (p.Thr33488=) c.97506T>C (p.Thr32502=) c.79122T>C (p.Thr26374=) c.100617T>C (p.Thr33539=) c.100614T>C (p.Thr33538=) c.100047T>C (p.Thr33349=) c.97389T>C (p.Thr32463=) c.97308T>C (p.Thr32436=) c.79071T>C (p.Thr26357=) c.68925T>C (p.Thr22975=) | gnomAD v4 |
2 | g.178530439A>T | CA430234990 | TTN,TTN-AS1 | c.98472T>A (p.Thr32824=) c.79557T>A (p.Thr26519=) c.79356T>A (p.Thr26452=) c.78981T>A (p.Thr26327=) c.106176T>A (p.Thr35392=) c.101253T>A (p.Thr33751=) n.446+6803A>T n.220-5293A>T c.105273T>A (p.Thr35091=) c.79167T>A (p.Thr26389=) c.79026T>A (p.Thr26342=) c.105069T>A (p.Thr35023=) c.100467T>A (p.Thr33489=) c.100464T>A (p.Thr33488=) c.97506T>A (p.Thr32502=) c.79122T>A (p.Thr26374=) c.100617T>A (p.Thr33539=) c.100614T>A (p.Thr33538=) c.100047T>A (p.Thr33349=) c.97389T>A (p.Thr32463=) c.97308T>A (p.Thr32436=) c.79071T>A (p.Thr26357=) c.68925T>A (p.Thr22975=) | |
2 | g.178530440G>A | CA349406779 | TTN,TTN-AS1 | c.98471C>T (p.Thr32824Ile) c.79556C>T (p.Thr26519Ile) c.79355C>T (p.Thr26452Ile) c.78980C>T (p.Thr26327Ile) c.106175C>T (p.Thr35392Ile) c.101252C>T (p.Thr33751Ile) n.446+6804G>A n.220-5292G>A c.105272C>T (p.Thr35091Ile) c.79166C>T (p.Thr26389Ile) c.79025C>T (p.Thr26342Ile) c.105068C>T (p.Thr35023Ile) c.100466C>T (p.Thr33489Ile) c.100463C>T (p.Thr33488Ile) c.97505C>T (p.Thr32502Ile) c.79121C>T (p.Thr26374Ile) c.100616C>T (p.Thr33539Ile) c.100613C>T (p.Thr33538Ile) c.100046C>T (p.Thr33349Ile) c.97388C>T (p.Thr32463Ile) c.97307C>T (p.Thr32436Ile) c.79070C>T (p.Thr26357Ile) c.68924C>T (p.Thr22975Ile) | |
2 | g.178530440G>C | CA349406781 | TTN,TTN-AS1 | c.98471C>G (p.Thr32824Ser) c.79556C>G (p.Thr26519Ser) c.79355C>G (p.Thr26452Ser) c.78980C>G (p.Thr26327Ser) c.106175C>G (p.Thr35392Ser) c.101252C>G (p.Thr33751Ser) n.446+6804G>C n.220-5292G>C c.105272C>G (p.Thr35091Ser) c.79166C>G (p.Thr26389Ser) c.79025C>G (p.Thr26342Ser) c.105068C>G (p.Thr35023Ser) c.100466C>G (p.Thr33489Ser) c.100463C>G (p.Thr33488Ser) c.97505C>G (p.Thr32502Ser) c.79121C>G (p.Thr26374Ser) c.100616C>G (p.Thr33539Ser) c.100613C>G (p.Thr33538Ser) c.100046C>G (p.Thr33349Ser) c.97388C>G (p.Thr32463Ser) c.97307C>G (p.Thr32436Ser) c.79070C>G (p.Thr26357Ser) c.68924C>G (p.Thr22975Ser) | dbSNP |
2 | g.178530440G= | CA1310514633 | TTN,TTN-AS1 | c.98471C= (p.Thr32824=) c.79556C= (p.Thr26519=) c.79355C= (p.Thr26452=) c.78980C= (p.Thr26327=) c.106175C= (p.Thr35392=) c.101252C= (p.Thr33751=) n.446+6804G= n.220-5292G= c.105272C= (p.Thr35091=) c.79166C= (p.Thr26389=) c.79025C= (p.Thr26342=) c.105068C= (p.Thr35023=) c.100466C= (p.Thr33489=) c.100463C= (p.Thr33488=) c.97505C= (p.Thr32502=) c.79121C= (p.Thr26374=) c.100616C= (p.Thr33539=) c.100613C= (p.Thr33538=) c.100046C= (p.Thr33349=) c.97388C= (p.Thr32463=) c.97307C= (p.Thr32436=) c.79070C= (p.Thr26357=) c.68924C= (p.Thr22975=) | |
2 | g.178530440G>T | CA349406783 | TTN,TTN-AS1 | c.98471C>A (p.Thr32824Asn) c.79556C>A (p.Thr26519Asn) c.79355C>A (p.Thr26452Asn) c.78980C>A (p.Thr26327Asn) c.106175C>A (p.Thr35392Asn) c.101252C>A (p.Thr33751Asn) n.446+6804G>T n.220-5292G>T c.105272C>A (p.Thr35091Asn) c.79166C>A (p.Thr26389Asn) c.79025C>A (p.Thr26342Asn) c.105068C>A (p.Thr35023Asn) c.100466C>A (p.Thr33489Asn) c.100463C>A (p.Thr33488Asn) c.97505C>A (p.Thr32502Asn) c.79121C>A (p.Thr26374Asn) c.100616C>A (p.Thr33539Asn) c.100613C>A (p.Thr33538Asn) c.100046C>A (p.Thr33349Asn) c.97388C>A (p.Thr32463Asn) c.97307C>A (p.Thr32436Asn) c.79070C>A (p.Thr26357Asn) c.68924C>A (p.Thr22975Asn) | dbSNP |
2 | g.178530441T>A | CA349406785 | TTN,TTN-AS1 | c.98470A>T (p.Thr32824Ser) c.79555A>T (p.Thr26519Ser) c.79354A>T (p.Thr26452Ser) c.78979A>T (p.Thr26327Ser) c.106174A>T (p.Thr35392Ser) c.101251A>T (p.Thr33751Ser) n.446+6805T>A n.220-5291T>A c.105271A>T (p.Thr35091Ser) c.79165A>T (p.Thr26389Ser) c.79024A>T (p.Thr26342Ser) c.105067A>T (p.Thr35023Ser) c.100465A>T (p.Thr33489Ser) c.100462A>T (p.Thr33488Ser) c.97504A>T (p.Thr32502Ser) c.79120A>T (p.Thr26374Ser) c.100615A>T (p.Thr33539Ser) c.100612A>T (p.Thr33538Ser) c.100045A>T (p.Thr33349Ser) c.97387A>T (p.Thr32463Ser) c.97306A>T (p.Thr32436Ser) c.79069A>T (p.Thr26357Ser) c.68923A>T (p.Thr22975Ser) | |
2 | g.178530441T>C | CA349406787 | TTN,TTN-AS1 | c.98470A>G (p.Thr32824Ala) c.79555A>G (p.Thr26519Ala) c.79354A>G (p.Thr26452Ala) c.78979A>G (p.Thr26327Ala) c.106174A>G (p.Thr35392Ala) c.101251A>G (p.Thr33751Ala) n.446+6805T>C n.220-5291T>C c.105271A>G (p.Thr35091Ala) c.79165A>G (p.Thr26389Ala) c.79024A>G (p.Thr26342Ala) c.105067A>G (p.Thr35023Ala) c.100465A>G (p.Thr33489Ala) c.100462A>G (p.Thr33488Ala) c.97504A>G (p.Thr32502Ala) c.79120A>G (p.Thr26374Ala) c.100615A>G (p.Thr33539Ala) c.100612A>G (p.Thr33538Ala) c.100045A>G (p.Thr33349Ala) c.97387A>G (p.Thr32463Ala) c.97306A>G (p.Thr32436Ala) c.79069A>G (p.Thr26357Ala) c.68923A>G (p.Thr22975Ala) | |
2 | g.178530441T>G | CA349406789 | TTN,TTN-AS1 | c.98470A>C (p.Thr32824Pro) c.79555A>C (p.Thr26519Pro) c.79354A>C (p.Thr26452Pro) c.78979A>C (p.Thr26327Pro) c.106174A>C (p.Thr35392Pro) c.101251A>C (p.Thr33751Pro) n.446+6805T>G n.220-5291T>G c.105271A>C (p.Thr35091Pro) c.79165A>C (p.Thr26389Pro) c.79024A>C (p.Thr26342Pro) c.105067A>C (p.Thr35023Pro) c.100465A>C (p.Thr33489Pro) c.100462A>C (p.Thr33488Pro) c.97504A>C (p.Thr32502Pro) c.79120A>C (p.Thr26374Pro) c.100615A>C (p.Thr33539Pro) c.100612A>C (p.Thr33538Pro) c.100045A>C (p.Thr33349Pro) c.97387A>C (p.Thr32463Pro) c.97306A>C (p.Thr32436Pro) c.79069A>C (p.Thr26357Pro) c.68923A>C (p.Thr22975Pro) | |
2 | g.178530442T>A | CA349406794 | TTN,TTN-AS1 | c.98469A>T (p.Glu32823Asp) c.79554A>T (p.Glu26518Asp) c.79353A>T (p.Glu26451Asp) c.78978A>T (p.Glu26326Asp) c.106173A>T (p.Glu35391Asp) c.101250A>T (p.Glu33750Asp) n.446+6806T>A n.220-5290T>A c.105270A>T (p.Glu35090Asp) c.79164A>T (p.Glu26388Asp) c.79023A>T (p.Glu26341Asp) c.105066A>T (p.Glu35022Asp) c.100464A>T (p.Glu33488Asp) c.100461A>T (p.Glu33487Asp) c.97503A>T (p.Glu32501Asp) c.79119A>T (p.Glu26373Asp) c.100614A>T (p.Glu33538Asp) c.100611A>T (p.Glu33537Asp) c.100044A>T (p.Glu33348Asp) c.97386A>T (p.Glu32462Asp) c.97305A>T (p.Glu32435Asp) c.79068A>T (p.Glu26356Asp) c.68922A>T (p.Glu22974Asp) | |
2 | g.178530442T>C | CA430234992 | TTN,TTN-AS1 | c.98469A>G (p.Glu32823=) c.79554A>G (p.Glu26518=) c.79353A>G (p.Glu26451=) c.78978A>G (p.Glu26326=) c.106173A>G (p.Glu35391=) c.101250A>G (p.Glu33750=) n.446+6806T>C n.220-5290T>C c.105270A>G (p.Glu35090=) c.79164A>G (p.Glu26388=) c.79023A>G (p.Glu26341=) c.105066A>G (p.Glu35022=) c.100464A>G (p.Glu33488=) c.100461A>G (p.Glu33487=) c.97503A>G (p.Glu32501=) c.79119A>G (p.Glu26373=) c.100614A>G (p.Glu33538=) c.100611A>G (p.Glu33537=) c.100044A>G (p.Glu33348=) c.97386A>G (p.Glu32462=) c.97305A>G (p.Glu32435=) c.79068A>G (p.Glu26356=) c.68922A>G (p.Glu22974=) | |
2 | g.178530442T>G | CA349406792 | TTN,TTN-AS1 | c.98469A>C (p.Glu32823Asp) c.79554A>C (p.Glu26518Asp) c.79353A>C (p.Glu26451Asp) c.78978A>C (p.Glu26326Asp) c.106173A>C (p.Glu35391Asp) c.101250A>C (p.Glu33750Asp) n.446+6806T>G n.220-5290T>G c.105270A>C (p.Glu35090Asp) c.79164A>C (p.Glu26388Asp) c.79023A>C (p.Glu26341Asp) c.105066A>C (p.Glu35022Asp) c.100464A>C (p.Glu33488Asp) c.100461A>C (p.Glu33487Asp) c.97503A>C (p.Glu32501Asp) c.79119A>C (p.Glu26373Asp) c.100614A>C (p.Glu33538Asp) c.100611A>C (p.Glu33537Asp) c.100044A>C (p.Glu33348Asp) c.97386A>C (p.Glu32462Asp) c.97305A>C (p.Glu32435Asp) c.79068A>C (p.Glu26356Asp) c.68922A>C (p.Glu22974Asp) | |
2 | g.178530443T>A | CA349406797 | TTN,TTN-AS1 | c.98468A>T (p.Glu32823Val) c.79553A>T (p.Glu26518Val) c.79352A>T (p.Glu26451Val) c.78977A>T (p.Glu26326Val) c.106172A>T (p.Glu35391Val) c.101249A>T (p.Glu33750Val) n.446+6807T>A n.220-5289T>A c.105269A>T (p.Glu35090Val) c.79163A>T (p.Glu26388Val) c.79022A>T (p.Glu26341Val) c.105065A>T (p.Glu35022Val) c.100463A>T (p.Glu33488Val) c.100460A>T (p.Glu33487Val) c.97502A>T (p.Glu32501Val) c.79118A>T (p.Glu26373Val) c.100613A>T (p.Glu33538Val) c.100610A>T (p.Glu33537Val) c.100043A>T (p.Glu33348Val) c.97385A>T (p.Glu32462Val) c.97304A>T (p.Glu32435Val) c.79067A>T (p.Glu26356Val) c.68921A>T (p.Glu22974Val) | |
2 | g.178530443T>C | CA349406798 | TTN,TTN-AS1 | c.98468A>G (p.Glu32823Gly) c.79553A>G (p.Glu26518Gly) c.79352A>G (p.Glu26451Gly) c.78977A>G (p.Glu26326Gly) c.106172A>G (p.Glu35391Gly) c.101249A>G (p.Glu33750Gly) n.446+6807T>C n.220-5289T>C c.105269A>G (p.Glu35090Gly) c.79163A>G (p.Glu26388Gly) c.79022A>G (p.Glu26341Gly) c.105065A>G (p.Glu35022Gly) c.100463A>G (p.Glu33488Gly) c.100460A>G (p.Glu33487Gly) c.97502A>G (p.Glu32501Gly) c.79118A>G (p.Glu26373Gly) c.100613A>G (p.Glu33538Gly) c.100610A>G (p.Glu33537Gly) c.100043A>G (p.Glu33348Gly) c.97385A>G (p.Glu32462Gly) c.97304A>G (p.Glu32435Gly) c.79067A>G (p.Glu26356Gly) c.68921A>G (p.Glu22974Gly) | |
2 | g.178530443T>G | CA349406800 | TTN,TTN-AS1 | c.98468A>C (p.Glu32823Ala) c.79553A>C (p.Glu26518Ala) c.79352A>C (p.Glu26451Ala) c.78977A>C (p.Glu26326Ala) c.106172A>C (p.Glu35391Ala) c.101249A>C (p.Glu33750Ala) n.446+6807T>G n.220-5289T>G c.105269A>C (p.Glu35090Ala) c.79163A>C (p.Glu26388Ala) c.79022A>C (p.Glu26341Ala) c.105065A>C (p.Glu35022Ala) c.100463A>C (p.Glu33488Ala) c.100460A>C (p.Glu33487Ala) c.97502A>C (p.Glu32501Ala) c.79118A>C (p.Glu26373Ala) c.100613A>C (p.Glu33538Ala) c.100610A>C (p.Glu33537Ala) c.100043A>C (p.Glu33348Ala) c.97385A>C (p.Glu32462Ala) c.97304A>C (p.Glu32435Ala) c.79067A>C (p.Glu26356Ala) c.68921A>C (p.Glu22974Ala) | |
2 | g.178530444C>A | CA349406803 | TTN,TTN-AS1 | c.98467G>T (p.Glu32823Ter) c.79552G>T (p.Glu26518Ter) c.79351G>T (p.Glu26451Ter) c.78976G>T (p.Glu26326Ter) c.106171G>T (p.Glu35391Ter) c.101248G>T (p.Glu33750Ter) n.446+6808C>A n.220-5288C>A c.105268G>T (p.Glu35090Ter) c.79162G>T (p.Glu26388Ter) c.79021G>T (p.Glu26341Ter) c.105064G>T (p.Glu35022Ter) c.100462G>T (p.Glu33488Ter) c.100459G>T (p.Glu33487Ter) c.97501G>T (p.Glu32501Ter) c.79117G>T (p.Glu26373Ter) c.100612G>T (p.Glu33538Ter) c.100609G>T (p.Glu33537Ter) c.100042G>T (p.Glu33348Ter) c.97384G>T (p.Glu32462Ter) c.97303G>T (p.Glu32435Ter) c.79066G>T (p.Glu26356Ter) c.68920G>T (p.Glu22974Ter) | |
2 | g.178530444C>G | CA349406805 | TTN,TTN-AS1 | c.98467G>C (p.Glu32823Gln) c.79552G>C (p.Glu26518Gln) c.79351G>C (p.Glu26451Gln) c.78976G>C (p.Glu26326Gln) c.106171G>C (p.Glu35391Gln) c.101248G>C (p.Glu33750Gln) n.446+6808C>G n.220-5288C>G c.105268G>C (p.Glu35090Gln) c.79162G>C (p.Glu26388Gln) c.79021G>C (p.Glu26341Gln) c.105064G>C (p.Glu35022Gln) c.100462G>C (p.Glu33488Gln) c.100459G>C (p.Glu33487Gln) c.97501G>C (p.Glu32501Gln) c.79117G>C (p.Glu26373Gln) c.100612G>C (p.Glu33538Gln) c.100609G>C (p.Glu33537Gln) c.100042G>C (p.Glu33348Gln) c.97384G>C (p.Glu32462Gln) c.97303G>C (p.Glu32435Gln) c.79066G>C (p.Glu26356Gln) c.68920G>C (p.Glu22974Gln) | |
2 | g.178530444C>T | CA349406807 | TTN,TTN-AS1 | c.98467G>A (p.Glu32823Lys) c.79552G>A (p.Glu26518Lys) c.79351G>A (p.Glu26451Lys) c.78976G>A (p.Glu26326Lys) c.106171G>A (p.Glu35391Lys) c.101248G>A (p.Glu33750Lys) n.446+6808C>T n.220-5288C>T c.105268G>A (p.Glu35090Lys) c.79162G>A (p.Glu26388Lys) c.79021G>A (p.Glu26341Lys) c.105064G>A (p.Glu35022Lys) c.100462G>A (p.Glu33488Lys) c.100459G>A (p.Glu33487Lys) c.97501G>A (p.Glu32501Lys) c.79117G>A (p.Glu26373Lys) c.100612G>A (p.Glu33538Lys) c.100609G>A (p.Glu33537Lys) c.100042G>A (p.Glu33348Lys) c.97384G>A (p.Glu32462Lys) c.97303G>A (p.Glu32435Lys) c.79066G>A (p.Glu26356Lys) c.68920G>A (p.Glu22974Lys) | |
2 | g.178530445T>A | CA430234999 | TTN,TTN-AS1 | c.98466A>T (p.Ser32822=) c.79551A>T (p.Ser26517=) c.79350A>T (p.Ser26450=) c.78975A>T (p.Ser26325=) c.106170A>T (p.Ser35390=) c.101247A>T (p.Ser33749=) n.446+6809T>A n.220-5287T>A c.105267A>T (p.Ser35089=) c.79161A>T (p.Ser26387=) c.79020A>T (p.Ser26340=) c.105063A>T (p.Ser35021=) c.100461A>T (p.Ser33487=) c.100458A>T (p.Ser33486=) c.97500A>T (p.Ser32500=) c.79116A>T (p.Ser26372=) c.100611A>T (p.Ser33537=) c.100608A>T (p.Ser33536=) c.100041A>T (p.Ser33347=) c.97383A>T (p.Ser32461=) c.97302A>T (p.Ser32434=) c.79065A>T (p.Ser26355=) c.68919A>T (p.Ser22973=) | |
2 | g.178530445T>C | CA430234998 | TTN,TTN-AS1 | c.98466A>G (p.Ser32822=) c.79551A>G (p.Ser26517=) c.79350A>G (p.Ser26450=) c.78975A>G (p.Ser26325=) c.106170A>G (p.Ser35390=) c.101247A>G (p.Ser33749=) n.446+6809T>C n.220-5287T>C c.105267A>G (p.Ser35089=) c.79161A>G (p.Ser26387=) c.79020A>G (p.Ser26340=) c.105063A>G (p.Ser35021=) c.100461A>G (p.Ser33487=) c.100458A>G (p.Ser33486=) c.97500A>G (p.Ser32500=) c.79116A>G (p.Ser26372=) c.100611A>G (p.Ser33537=) c.100608A>G (p.Ser33536=) c.100041A>G (p.Ser33347=) c.97383A>G (p.Ser32461=) c.97302A>G (p.Ser32434=) c.79065A>G (p.Ser26355=) c.68919A>G (p.Ser22973=) | |
2 | g.178530445T>G | CA430234997 | TTN,TTN-AS1 | c.98466A>C (p.Ser32822=) c.79551A>C (p.Ser26517=) c.79350A>C (p.Ser26450=) c.78975A>C (p.Ser26325=) c.106170A>C (p.Ser35390=) c.101247A>C (p.Ser33749=) n.446+6809T>G n.220-5287T>G c.105267A>C (p.Ser35089=) c.79161A>C (p.Ser26387=) c.79020A>C (p.Ser26340=) c.105063A>C (p.Ser35021=) c.100461A>C (p.Ser33487=) c.100458A>C (p.Ser33486=) c.97500A>C (p.Ser32500=) c.79116A>C (p.Ser26372=) c.100611A>C (p.Ser33537=) c.100608A>C (p.Ser33536=) c.100041A>C (p.Ser33347=) c.97383A>C (p.Ser32461=) c.97302A>C (p.Ser32434=) c.79065A>C (p.Ser26355=) c.68919A>C (p.Ser22973=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.178530445T= | CA1310514636 | TTN,TTN-AS1 | c.98466A= (p.Ser32822=) c.79551A= (p.Ser26517=) c.79350A= (p.Ser26450=) c.78975A= (p.Ser26325=) c.106170A= (p.Ser35390=) c.101247A= (p.Ser33749=) n.446+6809T= n.220-5287T= c.105267A= (p.Ser35089=) c.79161A= (p.Ser26387=) c.79020A= (p.Ser26340=) c.105063A= (p.Ser35021=) c.100461A= (p.Ser33487=) c.100458A= (p.Ser33486=) c.97500A= (p.Ser32500=) c.79116A= (p.Ser26372=) c.100611A= (p.Ser33537=) c.100608A= (p.Ser33536=) c.100041A= (p.Ser33347=) c.97383A= (p.Ser32461=) c.97302A= (p.Ser32434=) c.79065A= (p.Ser26355=) c.68919A= (p.Ser22973=) | |
2 | g.178530446G>A | CA1985153 | TTN,TTN-AS1 | c.98465C>T (p.Ser32822Leu) c.79550C>T (p.Ser26517Leu) c.79349C>T (p.Ser26450Leu) c.78974C>T (p.Ser26325Leu) c.106169C>T (p.Ser35390Leu) c.101246C>T (p.Ser33749Leu) n.446+6810G>A n.220-5286G>A c.105266C>T (p.Ser35089Leu) c.79160C>T (p.Ser26387Leu) c.79019C>T (p.Ser26340Leu) c.105062C>T (p.Ser35021Leu) c.100460C>T (p.Ser33487Leu) c.100457C>T (p.Ser33486Leu) c.97499C>T (p.Ser32500Leu) c.79115C>T (p.Ser26372Leu) c.100610C>T (p.Ser33537Leu) c.100607C>T (p.Ser33536Leu) c.100040C>T (p.Ser33347Leu) c.97382C>T (p.Ser32461Leu) c.97301C>T (p.Ser32434Leu) c.79064C>T (p.Ser26355Leu) c.68918C>T (p.Ser22973Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.178530446G>C | CA349406811 | TTN,TTN-AS1 | c.98465C>G (p.Ser32822Ter) c.79550C>G (p.Ser26517Ter) c.79349C>G (p.Ser26450Ter) c.78974C>G (p.Ser26325Ter) c.106169C>G (p.Ser35390Ter) c.101246C>G (p.Ser33749Ter) n.446+6810G>C n.220-5286G>C c.105266C>G (p.Ser35089Ter) c.79160C>G (p.Ser26387Ter) c.79019C>G (p.Ser26340Ter) c.105062C>G (p.Ser35021Ter) c.100460C>G (p.Ser33487Ter) c.100457C>G (p.Ser33486Ter) c.97499C>G (p.Ser32500Ter) c.79115C>G (p.Ser26372Ter) c.100610C>G (p.Ser33537Ter) c.100607C>G (p.Ser33536Ter) c.100040C>G (p.Ser33347Ter) c.97382C>G (p.Ser32461Ter) c.97301C>G (p.Ser32434Ter) c.79064C>G (p.Ser26355Ter) c.68918C>G (p.Ser22973Ter) | |
2 | g.178530446G= | CA1310514637 | TTN,TTN-AS1 | c.98465C= (p.Ser32822=) c.79550C= (p.Ser26517=) c.79349C= (p.Ser26450=) c.78974C= (p.Ser26325=) c.106169C= (p.Ser35390=) c.101246C= (p.Ser33749=) n.446+6810G= n.220-5286G= c.105266C= (p.Ser35089=) c.79160C= (p.Ser26387=) c.79019C= (p.Ser26340=) c.105062C= (p.Ser35021=) c.100460C= (p.Ser33487=) c.100457C= (p.Ser33486=) c.97499C= (p.Ser32500=) c.79115C= (p.Ser26372=) c.100610C= (p.Ser33537=) c.100607C= (p.Ser33536=) c.100040C= (p.Ser33347=) c.97382C= (p.Ser32461=) c.97301C= (p.Ser32434=) c.79064C= (p.Ser26355=) c.68918C= (p.Ser22973=) | |
2 | g.178530446G>T | CA349406813 | TTN,TTN-AS1 | c.98465C>A (p.Ser32822Ter) c.79550C>A (p.Ser26517Ter) c.79349C>A (p.Ser26450Ter) c.78974C>A (p.Ser26325Ter) c.106169C>A (p.Ser35390Ter) c.101246C>A (p.Ser33749Ter) n.446+6810G>T n.220-5286G>T c.105266C>A (p.Ser35089Ter) c.79160C>A (p.Ser26387Ter) c.79019C>A (p.Ser26340Ter) c.105062C>A (p.Ser35021Ter) c.100460C>A (p.Ser33487Ter) c.100457C>A (p.Ser33486Ter) c.97499C>A (p.Ser32500Ter) c.79115C>A (p.Ser26372Ter) c.100610C>A (p.Ser33537Ter) c.100607C>A (p.Ser33536Ter) c.100040C>A (p.Ser33347Ter) c.97382C>A (p.Ser32461Ter) c.97301C>A (p.Ser32434Ter) c.79064C>A (p.Ser26355Ter) c.68918C>A (p.Ser22973Ter) | |
2 | g.178530447A>C | CA349406816 | TTN,TTN-AS1 | c.98464T>G (p.Ser32822Ala) c.79549T>G (p.Ser26517Ala) c.79348T>G (p.Ser26450Ala) c.78973T>G (p.Ser26325Ala) c.106168T>G (p.Ser35390Ala) c.101245T>G (p.Ser33749Ala) n.446+6811A>C n.220-5285A>C c.105265T>G (p.Ser35089Ala) c.79159T>G (p.Ser26387Ala) c.79018T>G (p.Ser26340Ala) c.105061T>G (p.Ser35021Ala) c.100459T>G (p.Ser33487Ala) c.100456T>G (p.Ser33486Ala) c.97498T>G (p.Ser32500Ala) c.79114T>G (p.Ser26372Ala) c.100609T>G (p.Ser33537Ala) c.100606T>G (p.Ser33536Ala) c.100039T>G (p.Ser33347Ala) c.97381T>G (p.Ser32461Ala) c.97300T>G (p.Ser32434Ala) c.79063T>G (p.Ser26355Ala) c.68917T>G (p.Ser22973Ala) | |
2 | g.178530447A>G | CA349406817 | TTN,TTN-AS1 | c.98464T>C (p.Ser32822Pro) c.79549T>C (p.Ser26517Pro) c.79348T>C (p.Ser26450Pro) c.78973T>C (p.Ser26325Pro) c.106168T>C (p.Ser35390Pro) c.101245T>C (p.Ser33749Pro) n.446+6811A>G n.220-5285A>G c.105265T>C (p.Ser35089Pro) c.79159T>C (p.Ser26387Pro) c.79018T>C (p.Ser26340Pro) c.105061T>C (p.Ser35021Pro) c.100459T>C (p.Ser33487Pro) c.100456T>C (p.Ser33486Pro) c.97498T>C (p.Ser32500Pro) c.79114T>C (p.Ser26372Pro) c.100609T>C (p.Ser33537Pro) c.100606T>C (p.Ser33536Pro) c.100039T>C (p.Ser33347Pro) c.97381T>C (p.Ser32461Pro) c.97300T>C (p.Ser32434Pro) c.79063T>C (p.Ser26355Pro) c.68917T>C (p.Ser22973Pro) | gnomAD v4 |
2 | g.178530447A>T | CA349406820 | TTN,TTN-AS1 | c.98464T>A (p.Ser32822Thr) c.79549T>A (p.Ser26517Thr) c.79348T>A (p.Ser26450Thr) c.78973T>A (p.Ser26325Thr) c.106168T>A (p.Ser35390Thr) c.101245T>A (p.Ser33749Thr) n.446+6811A>T n.220-5285A>T c.105265T>A (p.Ser35089Thr) c.79159T>A (p.Ser26387Thr) c.79018T>A (p.Ser26340Thr) c.105061T>A (p.Ser35021Thr) c.100459T>A (p.Ser33487Thr) c.100456T>A (p.Ser33486Thr) c.97498T>A (p.Ser32500Thr) c.79114T>A (p.Ser26372Thr) c.100609T>A (p.Ser33537Thr) c.100606T>A (p.Ser33536Thr) c.100039T>A (p.Ser33347Thr) c.97381T>A (p.Ser32461Thr) c.97300T>A (p.Ser32434Thr) c.79063T>A (p.Ser26355Thr) c.68917T>A (p.Ser22973Thr) | |
2 | g.178530448T>A | CA430235000 | TTN,TTN-AS1 | c.98463A>T (p.Ile32821=) c.79548A>T (p.Ile26516=) c.79347A>T (p.Ile26449=) c.78972A>T (p.Ile26324=) c.106167A>T (p.Ile35389=) c.101244A>T (p.Ile33748=) n.446+6812T>A n.220-5284T>A c.105264A>T (p.Ile35088=) c.79158A>T (p.Ile26386=) c.79017A>T (p.Ile26339=) c.105060A>T (p.Ile35020=) c.100458A>T (p.Ile33486=) c.100455A>T (p.Ile33485=) c.97497A>T (p.Ile32499=) c.79113A>T (p.Ile26371=) c.100608A>T (p.Ile33536=) c.100605A>T (p.Ile33535=) c.100038A>T (p.Ile33346=) c.97380A>T (p.Ile32460=) c.97299A>T (p.Ile32433=) c.79062A>T (p.Ile26354=) c.68916A>T (p.Ile22972=) | |
2 | g.178530448T>C | CA349406822 | TTN,TTN-AS1 | c.98463A>G (p.Ile32821Met) c.79548A>G (p.Ile26516Met) c.79347A>G (p.Ile26449Met) c.78972A>G (p.Ile26324Met) c.106167A>G (p.Ile35389Met) c.101244A>G (p.Ile33748Met) n.446+6812T>C n.220-5284T>C c.105264A>G (p.Ile35088Met) c.79158A>G (p.Ile26386Met) c.79017A>G (p.Ile26339Met) c.105060A>G (p.Ile35020Met) c.100458A>G (p.Ile33486Met) c.100455A>G (p.Ile33485Met) c.97497A>G (p.Ile32499Met) c.79113A>G (p.Ile26371Met) c.100608A>G (p.Ile33536Met) c.100605A>G (p.Ile33535Met) c.100038A>G (p.Ile33346Met) c.97380A>G (p.Ile32460Met) c.97299A>G (p.Ile32433Met) c.79062A>G (p.Ile26354Met) c.68916A>G (p.Ile22972Met) | |
2 | g.178530448T>G | CA430235002 | TTN,TTN-AS1 | c.98463A>C (p.Ile32821=) c.79548A>C (p.Ile26516=) c.79347A>C (p.Ile26449=) c.78972A>C (p.Ile26324=) c.106167A>C (p.Ile35389=) c.101244A>C (p.Ile33748=) n.446+6812T>G n.220-5284T>G c.105264A>C (p.Ile35088=) c.79158A>C (p.Ile26386=) c.79017A>C (p.Ile26339=) c.105060A>C (p.Ile35020=) c.100458A>C (p.Ile33486=) c.100455A>C (p.Ile33485=) c.97497A>C (p.Ile32499=) c.79113A>C (p.Ile26371=) c.100608A>C (p.Ile33536=) c.100605A>C (p.Ile33535=) c.100038A>C (p.Ile33346=) c.97380A>C (p.Ile32460=) c.97299A>C (p.Ile32433=) c.79062A>C (p.Ile26354=) c.68916A>C (p.Ile22972=) | |
2 | g.178530449A>C | CA349406829 | TTN,TTN-AS1 | c.98462T>G (p.Ile32821Arg) c.79547T>G (p.Ile26516Arg) c.79346T>G (p.Ile26449Arg) c.78971T>G (p.Ile26324Arg) c.106166T>G (p.Ile35389Arg) c.101243T>G (p.Ile33748Arg) n.446+6813A>C n.220-5283A>C c.105263T>G (p.Ile35088Arg) c.79157T>G (p.Ile26386Arg) c.79016T>G (p.Ile26339Arg) c.105059T>G (p.Ile35020Arg) c.100457T>G (p.Ile33486Arg) c.100454T>G (p.Ile33485Arg) c.97496T>G (p.Ile32499Arg) c.79112T>G (p.Ile26371Arg) c.100607T>G (p.Ile33536Arg) c.100604T>G (p.Ile33535Arg) c.100037T>G (p.Ile33346Arg) c.97379T>G (p.Ile32460Arg) c.97298T>G (p.Ile32433Arg) c.79061T>G (p.Ile26354Arg) c.68915T>G (p.Ile22972Arg) | |
2 | g.178530449A>G | CA349406827 | TTN,TTN-AS1 | c.98462T>C (p.Ile32821Thr) c.79547T>C (p.Ile26516Thr) c.79346T>C (p.Ile26449Thr) c.78971T>C (p.Ile26324Thr) c.106166T>C (p.Ile35389Thr) c.101243T>C (p.Ile33748Thr) n.446+6813A>G n.220-5283A>G c.105263T>C (p.Ile35088Thr) c.79157T>C (p.Ile26386Thr) c.79016T>C (p.Ile26339Thr) c.105059T>C (p.Ile35020Thr) c.100457T>C (p.Ile33486Thr) c.100454T>C (p.Ile33485Thr) c.97496T>C (p.Ile32499Thr) c.79112T>C (p.Ile26371Thr) c.100607T>C (p.Ile33536Thr) c.100604T>C (p.Ile33535Thr) c.100037T>C (p.Ile33346Thr) c.97379T>C (p.Ile32460Thr) c.97298T>C (p.Ile32433Thr) c.79061T>C (p.Ile26354Thr) c.68915T>C (p.Ile22972Thr) | gnomAD v4 |
2 | g.178530449A>T | CA349406825 | TTN,TTN-AS1 | c.98462T>A (p.Ile32821Lys) c.79547T>A (p.Ile26516Lys) c.79346T>A (p.Ile26449Lys) c.78971T>A (p.Ile26324Lys) c.106166T>A (p.Ile35389Lys) c.101243T>A (p.Ile33748Lys) n.446+6813A>T n.220-5283A>T c.105263T>A (p.Ile35088Lys) c.79157T>A (p.Ile26386Lys) c.79016T>A (p.Ile26339Lys) c.105059T>A (p.Ile35020Lys) c.100457T>A (p.Ile33486Lys) c.100454T>A (p.Ile33485Lys) c.97496T>A (p.Ile32499Lys) c.79112T>A (p.Ile26371Lys) c.100607T>A (p.Ile33536Lys) c.100604T>A (p.Ile33535Lys) c.100037T>A (p.Ile33346Lys) c.97379T>A (p.Ile32460Lys) c.97298T>A (p.Ile32433Lys) c.79061T>A (p.Ile26354Lys) c.68915T>A (p.Ile22972Lys) | |
2 | g.178530450T>A | CA349406831 | TTN,TTN-AS1 | c.98461A>T (p.Ile32821Leu) c.79546A>T (p.Ile26516Leu) c.79345A>T (p.Ile26449Leu) c.78970A>T (p.Ile26324Leu) c.106165A>T (p.Ile35389Leu) c.101242A>T (p.Ile33748Leu) n.446+6814T>A n.220-5282T>A c.105262A>T (p.Ile35088Leu) c.79156A>T (p.Ile26386Leu) c.79015A>T (p.Ile26339Leu) c.105058A>T (p.Ile35020Leu) c.100456A>T (p.Ile33486Leu) c.100453A>T (p.Ile33485Leu) c.97495A>T (p.Ile32499Leu) c.79111A>T (p.Ile26371Leu) c.100606A>T (p.Ile33536Leu) c.100603A>T (p.Ile33535Leu) c.100036A>T (p.Ile33346Leu) c.97378A>T (p.Ile32460Leu) c.97297A>T (p.Ile32433Leu) c.79060A>T (p.Ile26354Leu) c.68914A>T (p.Ile22972Leu) | |
2 | g.178530450T>C | CA349406833 | TTN,TTN-AS1 | c.98461A>G (p.Ile32821Val) c.79546A>G (p.Ile26516Val) c.79345A>G (p.Ile26449Val) c.78970A>G (p.Ile26324Val) c.106165A>G (p.Ile35389Val) c.101242A>G (p.Ile33748Val) n.446+6814T>C n.220-5282T>C c.105262A>G (p.Ile35088Val) c.79156A>G (p.Ile26386Val) c.79015A>G (p.Ile26339Val) c.105058A>G (p.Ile35020Val) c.100456A>G (p.Ile33486Val) c.100453A>G (p.Ile33485Val) c.97495A>G (p.Ile32499Val) c.79111A>G (p.Ile26371Val) c.100606A>G (p.Ile33536Val) c.100603A>G (p.Ile33535Val) c.100036A>G (p.Ile33346Val) c.97378A>G (p.Ile32460Val) c.97297A>G (p.Ile32433Val) c.79060A>G (p.Ile26354Val) c.68914A>G (p.Ile22972Val) | gnomAD v4 |
2 | g.178530450T>G | CA349406835 | TTN,TTN-AS1 | c.98461A>C (p.Ile32821Leu) c.79546A>C (p.Ile26516Leu) c.79345A>C (p.Ile26449Leu) c.78970A>C (p.Ile26324Leu) c.106165A>C (p.Ile35389Leu) c.101242A>C (p.Ile33748Leu) n.446+6814T>G n.220-5282T>G c.105262A>C (p.Ile35088Leu) c.79156A>C (p.Ile26386Leu) c.79015A>C (p.Ile26339Leu) c.105058A>C (p.Ile35020Leu) c.100456A>C (p.Ile33486Leu) c.100453A>C (p.Ile33485Leu) c.97495A>C (p.Ile32499Leu) c.79111A>C (p.Ile26371Leu) c.100606A>C (p.Ile33536Leu) c.100603A>C (p.Ile33535Leu) c.100036A>C (p.Ile33346Leu) c.97378A>C (p.Ile32460Leu) c.97297A>C (p.Ile32433Leu) c.79060A>C (p.Ile26354Leu) c.68914A>C (p.Ile22972Leu) | |
2 | g.178530451T>A | CA349406836 | TTN,TTN-AS1 | c.98460A>T (p.Lys32820Asn) c.79545A>T (p.Lys26515Asn) c.79344A>T (p.Lys26448Asn) c.78969A>T (p.Lys26323Asn) c.106164A>T (p.Lys35388Asn) c.101241A>T (p.Lys33747Asn) n.446+6815T>A n.220-5281T>A c.105261A>T (p.Lys35087Asn) c.79155A>T (p.Lys26385Asn) c.79014A>T (p.Lys26338Asn) c.105057A>T (p.Lys35019Asn) c.100455A>T (p.Lys33485Asn) c.100452A>T (p.Lys33484Asn) c.97494A>T (p.Lys32498Asn) c.79110A>T (p.Lys26370Asn) c.100605A>T (p.Lys33535Asn) c.100602A>T (p.Lys33534Asn) c.100035A>T (p.Lys33345Asn) c.97377A>T (p.Lys32459Asn) c.97296A>T (p.Lys32432Asn) c.79059A>T (p.Lys26353Asn) c.68913A>T (p.Lys22971Asn) | |
2 | g.178530451T>C | CA430235007 | TTN,TTN-AS1 | c.98460A>G (p.Lys32820=) c.79545A>G (p.Lys26515=) c.79344A>G (p.Lys26448=) c.78969A>G (p.Lys26323=) c.106164A>G (p.Lys35388=) c.101241A>G (p.Lys33747=) n.446+6815T>C n.220-5281T>C c.105261A>G (p.Lys35087=) c.79155A>G (p.Lys26385=) c.79014A>G (p.Lys26338=) c.105057A>G (p.Lys35019=) c.100455A>G (p.Lys33485=) c.100452A>G (p.Lys33484=) c.97494A>G (p.Lys32498=) c.79110A>G (p.Lys26370=) c.100605A>G (p.Lys33535=) c.100602A>G (p.Lys33534=) c.100035A>G (p.Lys33345=) c.97377A>G (p.Lys32459=) c.97296A>G (p.Lys32432=) c.79059A>G (p.Lys26353=) c.68913A>G (p.Lys22971=) | |
2 | g.178530451T>G | CA349406838 | TTN,TTN-AS1 | c.98460A>C (p.Lys32820Asn) c.79545A>C (p.Lys26515Asn) c.79344A>C (p.Lys26448Asn) c.78969A>C (p.Lys26323Asn) c.106164A>C (p.Lys35388Asn) c.101241A>C (p.Lys33747Asn) n.446+6815T>G n.220-5281T>G c.105261A>C (p.Lys35087Asn) c.79155A>C (p.Lys26385Asn) c.79014A>C (p.Lys26338Asn) c.105057A>C (p.Lys35019Asn) c.100455A>C (p.Lys33485Asn) c.100452A>C (p.Lys33484Asn) c.97494A>C (p.Lys32498Asn) c.79110A>C (p.Lys26370Asn) c.100605A>C (p.Lys33535Asn) c.100602A>C (p.Lys33534Asn) c.100035A>C (p.Lys33345Asn) c.97377A>C (p.Lys32459Asn) c.97296A>C (p.Lys32432Asn) c.79059A>C (p.Lys26353Asn) c.68913A>C (p.Lys22971Asn) | |
2 | g.178530452T>A | CA349406841 | TTN,TTN-AS1 | c.98459A>T (p.Lys32820Ile) c.79544A>T (p.Lys26515Ile) c.79343A>T (p.Lys26448Ile) c.78968A>T (p.Lys26323Ile) c.106163A>T (p.Lys35388Ile) c.101240A>T (p.Lys33747Ile) n.446+6816T>A n.220-5280T>A c.105260A>T (p.Lys35087Ile) c.79154A>T (p.Lys26385Ile) c.79013A>T (p.Lys26338Ile) c.105056A>T (p.Lys35019Ile) c.100454A>T (p.Lys33485Ile) c.100451A>T (p.Lys33484Ile) c.97493A>T (p.Lys32498Ile) c.79109A>T (p.Lys26370Ile) c.100604A>T (p.Lys33535Ile) c.100601A>T (p.Lys33534Ile) c.100034A>T (p.Lys33345Ile) c.97376A>T (p.Lys32459Ile) c.97295A>T (p.Lys32432Ile) c.79058A>T (p.Lys26353Ile) c.68912A>T (p.Lys22971Ile) | |
2 | g.178530452T>C | CA349406843 | TTN,TTN-AS1 | c.98459A>G (p.Lys32820Arg) c.79544A>G (p.Lys26515Arg) c.79343A>G (p.Lys26448Arg) c.78968A>G (p.Lys26323Arg) c.106163A>G (p.Lys35388Arg) c.101240A>G (p.Lys33747Arg) n.446+6816T>C n.220-5280T>C c.105260A>G (p.Lys35087Arg) c.79154A>G (p.Lys26385Arg) c.79013A>G (p.Lys26338Arg) c.105056A>G (p.Lys35019Arg) c.100454A>G (p.Lys33485Arg) c.100451A>G (p.Lys33484Arg) c.97493A>G (p.Lys32498Arg) c.79109A>G (p.Lys26370Arg) c.100604A>G (p.Lys33535Arg) c.100601A>G (p.Lys33534Arg) c.100034A>G (p.Lys33345Arg) c.97376A>G (p.Lys32459Arg) c.97295A>G (p.Lys32432Arg) c.79058A>G (p.Lys26353Arg) c.68912A>G (p.Lys22971Arg) | |
2 | g.178530452T>G | CA349406845 | TTN,TTN-AS1 | c.98459A>C (p.Lys32820Thr) c.79544A>C (p.Lys26515Thr) c.79343A>C (p.Lys26448Thr) c.78968A>C (p.Lys26323Thr) c.106163A>C (p.Lys35388Thr) c.101240A>C (p.Lys33747Thr) n.446+6816T>G n.220-5280T>G c.105260A>C (p.Lys35087Thr) c.79154A>C (p.Lys26385Thr) c.79013A>C (p.Lys26338Thr) c.105056A>C (p.Lys35019Thr) c.100454A>C (p.Lys33485Thr) c.100451A>C (p.Lys33484Thr) c.97493A>C (p.Lys32498Thr) c.79109A>C (p.Lys26370Thr) c.100604A>C (p.Lys33535Thr) c.100601A>C (p.Lys33534Thr) c.100034A>C (p.Lys33345Thr) c.97376A>C (p.Lys32459Thr) c.97295A>C (p.Lys32432Thr) c.79058A>C (p.Lys26353Thr) c.68912A>C (p.Lys22971Thr) | |
2 | g.178530453T>A | CA349406848 | TTN,TTN-AS1 | c.98458A>T (p.Lys32820Ter) c.79543A>T (p.Lys26515Ter) c.79342A>T (p.Lys26448Ter) c.78967A>T (p.Lys26323Ter) c.106162A>T (p.Lys35388Ter) c.101239A>T (p.Lys33747Ter) n.446+6817T>A n.220-5279T>A c.105259A>T (p.Lys35087Ter) c.79153A>T (p.Lys26385Ter) c.79012A>T (p.Lys26338Ter) c.105055A>T (p.Lys35019Ter) c.100453A>T (p.Lys33485Ter) c.100450A>T (p.Lys33484Ter) c.97492A>T (p.Lys32498Ter) c.79108A>T (p.Lys26370Ter) c.100603A>T (p.Lys33535Ter) c.100600A>T (p.Lys33534Ter) c.100033A>T (p.Lys33345Ter) c.97375A>T (p.Lys32459Ter) c.97294A>T (p.Lys32432Ter) c.79057A>T (p.Lys26353Ter) c.68911A>T (p.Lys22971Ter) | |
2 | g.178530453T>C | CA349406850 | TTN,TTN-AS1 | c.98458A>G (p.Lys32820Glu) c.79543A>G (p.Lys26515Glu) c.79342A>G (p.Lys26448Glu) c.78967A>G (p.Lys26323Glu) c.106162A>G (p.Lys35388Glu) c.101239A>G (p.Lys33747Glu) n.446+6817T>C n.220-5279T>C c.105259A>G (p.Lys35087Glu) c.79153A>G (p.Lys26385Glu) c.79012A>G (p.Lys26338Glu) c.105055A>G (p.Lys35019Glu) c.100453A>G (p.Lys33485Glu) c.100450A>G (p.Lys33484Glu) c.97492A>G (p.Lys32498Glu) c.79108A>G (p.Lys26370Glu) c.100603A>G (p.Lys33535Glu) c.100600A>G (p.Lys33534Glu) c.100033A>G (p.Lys33345Glu) c.97375A>G (p.Lys32459Glu) c.97294A>G (p.Lys32432Glu) c.79057A>G (p.Lys26353Glu) c.68911A>G (p.Lys22971Glu) | gnomAD v4 |
2 | g.178530453T>G | CA349406852 | TTN,TTN-AS1 | c.98458A>C (p.Lys32820Gln) c.79543A>C (p.Lys26515Gln) c.79342A>C (p.Lys26448Gln) c.78967A>C (p.Lys26323Gln) c.106162A>C (p.Lys35388Gln) c.101239A>C (p.Lys33747Gln) n.446+6817T>G n.220-5279T>G c.105259A>C (p.Lys35087Gln) c.79153A>C (p.Lys26385Gln) c.79012A>C (p.Lys26338Gln) c.105055A>C (p.Lys35019Gln) c.100453A>C (p.Lys33485Gln) c.100450A>C (p.Lys33484Gln) c.97492A>C (p.Lys32498Gln) c.79108A>C (p.Lys26370Gln) c.100603A>C (p.Lys33535Gln) c.100600A>C (p.Lys33534Gln) c.100033A>C (p.Lys33345Gln) c.97375A>C (p.Lys32459Gln) c.97294A>C (p.Lys32432Gln) c.79057A>C (p.Lys26353Gln) c.68911A>C (p.Lys22971Gln) | |
2 | g.178530454T>A | CA430235011 | TTN,TTN-AS1 | c.98457A>T (p.Ser32819=) c.79542A>T (p.Ser26514=) c.79341A>T (p.Ser26447=) c.78966A>T (p.Ser26322=) c.106161A>T (p.Ser35387=) c.101238A>T (p.Ser33746=) n.446+6818T>A n.220-5278T>A c.105258A>T (p.Ser35086=) c.79152A>T (p.Ser26384=) c.79011A>T (p.Ser26337=) c.105054A>T (p.Ser35018=) c.100452A>T (p.Ser33484=) c.100449A>T (p.Ser33483=) c.97491A>T (p.Ser32497=) c.79107A>T (p.Ser26369=) c.100602A>T (p.Ser33534=) c.100599A>T (p.Ser33533=) c.100032A>T (p.Ser33344=) c.97374A>T (p.Ser32458=) c.97293A>T (p.Ser32431=) c.79056A>T (p.Ser26352=) c.68910A>T (p.Ser22970=) | |
2 | g.178530454T>C | CA430235012 | TTN,TTN-AS1 | c.98457A>G (p.Ser32819=) c.79542A>G (p.Ser26514=) c.79341A>G (p.Ser26447=) c.78966A>G (p.Ser26322=) c.106161A>G (p.Ser35387=) c.101238A>G (p.Ser33746=) n.446+6818T>C n.220-5278T>C c.105258A>G (p.Ser35086=) c.79152A>G (p.Ser26384=) c.79011A>G (p.Ser26337=) c.105054A>G (p.Ser35018=) c.100452A>G (p.Ser33484=) c.100449A>G (p.Ser33483=) c.97491A>G (p.Ser32497=) c.79107A>G (p.Ser26369=) c.100602A>G (p.Ser33534=) c.100599A>G (p.Ser33533=) c.100032A>G (p.Ser33344=) c.97374A>G (p.Ser32458=) c.97293A>G (p.Ser32431=) c.79056A>G (p.Ser26352=) c.68910A>G (p.Ser22970=) | |
2 | g.178530454T>G | CA430235013 | TTN,TTN-AS1 | c.98457A>C (p.Ser32819=) c.79542A>C (p.Ser26514=) c.79341A>C (p.Ser26447=) c.78966A>C (p.Ser26322=) c.106161A>C (p.Ser35387=) c.101238A>C (p.Ser33746=) n.446+6818T>G n.220-5278T>G c.105258A>C (p.Ser35086=) c.79152A>C (p.Ser26384=) c.79011A>C (p.Ser26337=) c.105054A>C (p.Ser35018=) c.100452A>C (p.Ser33484=) c.100449A>C (p.Ser33483=) c.97491A>C (p.Ser32497=) c.79107A>C (p.Ser26369=) c.100602A>C (p.Ser33534=) c.100599A>C (p.Ser33533=) c.100032A>C (p.Ser33344=) c.97374A>C (p.Ser32458=) c.97293A>C (p.Ser32431=) c.79056A>C (p.Ser26352=) c.68910A>C (p.Ser22970=) | |
2 | g.178530455G>A | CA349406854 | TTN,TTN-AS1 | c.98456C>T (p.Ser32819Leu) c.79541C>T (p.Ser26514Leu) c.79340C>T (p.Ser26447Leu) c.78965C>T (p.Ser26322Leu) c.106160C>T (p.Ser35387Leu) c.101237C>T (p.Ser33746Leu) n.446+6819G>A n.220-5277G>A c.105257C>T (p.Ser35086Leu) c.79151C>T (p.Ser26384Leu) c.79010C>T (p.Ser26337Leu) c.105053C>T (p.Ser35018Leu) c.100451C>T (p.Ser33484Leu) c.100448C>T (p.Ser33483Leu) c.97490C>T (p.Ser32497Leu) c.79106C>T (p.Ser26369Leu) c.100601C>T (p.Ser33534Leu) c.100598C>T (p.Ser33533Leu) c.100031C>T (p.Ser33344Leu) c.97373C>T (p.Ser32458Leu) c.97292C>T (p.Ser32431Leu) c.79055C>T (p.Ser26352Leu) c.68909C>T (p.Ser22970Leu) | COSMIC COSMIC COSMIC COSMIC |
2 | g.178530455G>C | CA349406856 | TTN,TTN-AS1 | c.98456C>G (p.Ser32819Ter) c.79541C>G (p.Ser26514Ter) c.79340C>G (p.Ser26447Ter) c.78965C>G (p.Ser26322Ter) c.106160C>G (p.Ser35387Ter) c.101237C>G (p.Ser33746Ter) n.446+6819G>C n.220-5277G>C c.105257C>G (p.Ser35086Ter) c.79151C>G (p.Ser26384Ter) c.79010C>G (p.Ser26337Ter) c.105053C>G (p.Ser35018Ter) c.100451C>G (p.Ser33484Ter) c.100448C>G (p.Ser33483Ter) c.97490C>G (p.Ser32497Ter) c.79106C>G (p.Ser26369Ter) c.100601C>G (p.Ser33534Ter) c.100598C>G (p.Ser33533Ter) c.100031C>G (p.Ser33344Ter) c.97373C>G (p.Ser32458Ter) c.97292C>G (p.Ser32431Ter) c.79055C>G (p.Ser26352Ter) c.68909C>G (p.Ser22970Ter) | ClinVar dbSNP |
2 | g.178530455G>T | CA349406858 | TTN,TTN-AS1 | c.98456C>A (p.Ser32819Ter) c.79541C>A (p.Ser26514Ter) c.79340C>A (p.Ser26447Ter) c.78965C>A (p.Ser26322Ter) c.106160C>A (p.Ser35387Ter) c.101237C>A (p.Ser33746Ter) n.446+6819G>T n.220-5277G>T c.105257C>A (p.Ser35086Ter) c.79151C>A (p.Ser26384Ter) c.79010C>A (p.Ser26337Ter) c.105053C>A (p.Ser35018Ter) c.100451C>A (p.Ser33484Ter) c.100448C>A (p.Ser33483Ter) c.97490C>A (p.Ser32497Ter) c.79106C>A (p.Ser26369Ter) c.100601C>A (p.Ser33534Ter) c.100598C>A (p.Ser33533Ter) c.100031C>A (p.Ser33344Ter) c.97373C>A (p.Ser32458Ter) c.97292C>A (p.Ser32431Ter) c.79055C>A (p.Ser26352Ter) c.68909C>A (p.Ser22970Ter) | |
2 | g.178530456A= | CA1310514639 | TTN,TTN-AS1 | c.98455T= (p.Ser32819=) c.79540T= (p.Ser26514=) c.79339T= (p.Ser26447=) c.78964T= (p.Ser26322=) c.106159T= (p.Ser35387=) c.101236T= (p.Ser33746=) n.446+6820A= n.220-5276A= c.105256T= (p.Ser35086=) c.79150T= (p.Ser26384=) c.79009T= (p.Ser26337=) c.105052T= (p.Ser35018=) c.100450T= (p.Ser33484=) c.100447T= (p.Ser33483=) c.97489T= (p.Ser32497=) c.79105T= (p.Ser26369=) c.100600T= (p.Ser33534=) c.100597T= (p.Ser33533=) c.100030T= (p.Ser33344=) c.97372T= (p.Ser32458=) c.97291T= (p.Ser32431=) c.79054T= (p.Ser26352=) c.68908T= (p.Ser22970=) | |
2 | g.178530456A>C | CA349406865 | TTN,TTN-AS1 | c.98455T>G (p.Ser32819Ala) c.79540T>G (p.Ser26514Ala) c.79339T>G (p.Ser26447Ala) c.78964T>G (p.Ser26322Ala) c.106159T>G (p.Ser35387Ala) c.101236T>G (p.Ser33746Ala) n.446+6820A>C n.220-5276A>C c.105256T>G (p.Ser35086Ala) c.79150T>G (p.Ser26384Ala) c.79009T>G (p.Ser26337Ala) c.105052T>G (p.Ser35018Ala) c.100450T>G (p.Ser33484Ala) c.100447T>G (p.Ser33483Ala) c.97489T>G (p.Ser32497Ala) c.79105T>G (p.Ser26369Ala) c.100600T>G (p.Ser33534Ala) c.100597T>G (p.Ser33533Ala) c.100030T>G (p.Ser33344Ala) c.97372T>G (p.Ser32458Ala) c.97291T>G (p.Ser32431Ala) c.79054T>G (p.Ser26352Ala) c.68908T>G (p.Ser22970Ala) | |
2 | g.178530456A>G | CA349406863 | TTN,TTN-AS1 | c.98455T>C (p.Ser32819Pro) c.79540T>C (p.Ser26514Pro) c.79339T>C (p.Ser26447Pro) c.78964T>C (p.Ser26322Pro) c.106159T>C (p.Ser35387Pro) c.101236T>C (p.Ser33746Pro) n.446+6820A>G n.220-5276A>G c.105256T>C (p.Ser35086Pro) c.79150T>C (p.Ser26384Pro) c.79009T>C (p.Ser26337Pro) c.105052T>C (p.Ser35018Pro) c.100450T>C (p.Ser33484Pro) c.100447T>C (p.Ser33483Pro) c.97489T>C (p.Ser32497Pro) c.79105T>C (p.Ser26369Pro) c.100600T>C (p.Ser33534Pro) c.100597T>C (p.Ser33533Pro) c.100030T>C (p.Ser33344Pro) c.97372T>C (p.Ser32458Pro) c.97291T>C (p.Ser32431Pro) c.79054T>C (p.Ser26352Pro) c.68908T>C (p.Ser22970Pro) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.178530456A>T | CA349406861 | TTN,TTN-AS1 | c.98455T>A (p.Ser32819Thr) c.79540T>A (p.Ser26514Thr) c.79339T>A (p.Ser26447Thr) c.78964T>A (p.Ser26322Thr) c.106159T>A (p.Ser35387Thr) c.101236T>A (p.Ser33746Thr) n.446+6820A>T n.220-5276A>T c.105256T>A (p.Ser35086Thr) c.79150T>A (p.Ser26384Thr) c.79009T>A (p.Ser26337Thr) c.105052T>A (p.Ser35018Thr) c.100450T>A (p.Ser33484Thr) c.100447T>A (p.Ser33483Thr) c.97489T>A (p.Ser32497Thr) c.79105T>A (p.Ser26369Thr) c.100600T>A (p.Ser33534Thr) c.100597T>A (p.Ser33533Thr) c.100030T>A (p.Ser33344Thr) c.97372T>A (p.Ser32458Thr) c.97291T>A (p.Ser32431Thr) c.79054T>A (p.Ser26352Thr) c.68908T>A (p.Ser22970Thr) | |
2 | g.178530457T>A | CA430235018 | TTN,TTN-AS1 | c.98454A>T (p.Val32818=) c.79539A>T (p.Val26513=) c.79338A>T (p.Val26446=) c.78963A>T (p.Val26321=) c.106158A>T (p.Val35386=) c.101235A>T (p.Val33745=) n.446+6821T>A n.220-5275T>A c.105255A>T (p.Val35085=) c.79149A>T (p.Val26383=) c.79008A>T (p.Val26336=) c.105051A>T (p.Val35017=) c.100449A>T (p.Val33483=) c.100446A>T (p.Val33482=) c.97488A>T (p.Val32496=) c.79104A>T (p.Val26368=) c.100599A>T (p.Val33533=) c.100596A>T (p.Val33532=) c.100029A>T (p.Val33343=) c.97371A>T (p.Val32457=) c.97290A>T (p.Val32430=) c.79053A>T (p.Val26351=) c.68907A>T (p.Val22969=) | |
2 | g.178530457T>C | CA430235019 | TTN,TTN-AS1 | c.98454A>G (p.Val32818=) c.79539A>G (p.Val26513=) c.79338A>G (p.Val26446=) c.78963A>G (p.Val26321=) c.106158A>G (p.Val35386=) c.101235A>G (p.Val33745=) n.446+6821T>C n.220-5275T>C c.105255A>G (p.Val35085=) c.79149A>G (p.Val26383=) c.79008A>G (p.Val26336=) c.105051A>G (p.Val35017=) c.100449A>G (p.Val33483=) c.100446A>G (p.Val33482=) c.97488A>G (p.Val32496=) c.79104A>G (p.Val26368=) c.100599A>G (p.Val33533=) c.100596A>G (p.Val33532=) c.100029A>G (p.Val33343=) c.97371A>G (p.Val32457=) c.97290A>G (p.Val32430=) c.79053A>G (p.Val26351=) c.68907A>G (p.Val22969=) | |
2 | g.178530457T>G | CA430235020 | TTN,TTN-AS1 | c.98454A>C (p.Val32818=) c.79539A>C (p.Val26513=) c.79338A>C (p.Val26446=) c.78963A>C (p.Val26321=) c.106158A>C (p.Val35386=) c.101235A>C (p.Val33745=) n.446+6821T>G n.220-5275T>G c.105255A>C (p.Val35085=) c.79149A>C (p.Val26383=) c.79008A>C (p.Val26336=) c.105051A>C (p.Val35017=) c.100449A>C (p.Val33483=) c.100446A>C (p.Val33482=) c.97488A>C (p.Val32496=) c.79104A>C (p.Val26368=) c.100599A>C (p.Val33533=) c.100596A>C (p.Val33532=) c.100029A>C (p.Val33343=) c.97371A>C (p.Val32457=) c.97290A>C (p.Val32430=) c.79053A>C (p.Val26351=) c.68907A>C (p.Val22969=) | |
2 | g.178530458A>C | CA349406867 | TTN,TTN-AS1 | c.98453T>G (p.Val32818Gly) c.79538T>G (p.Val26513Gly) c.79337T>G (p.Val26446Gly) c.78962T>G (p.Val26321Gly) c.106157T>G (p.Val35386Gly) c.101234T>G (p.Val33745Gly) n.446+6822A>C n.220-5274A>C c.105254T>G (p.Val35085Gly) c.79148T>G (p.Val26383Gly) c.79007T>G (p.Val26336Gly) c.105050T>G (p.Val35017Gly) c.100448T>G (p.Val33483Gly) c.100445T>G (p.Val33482Gly) c.97487T>G (p.Val32496Gly) c.79103T>G (p.Val26368Gly) c.100598T>G (p.Val33533Gly) c.100595T>G (p.Val33532Gly) c.100028T>G (p.Val33343Gly) c.97370T>G (p.Val32457Gly) c.97289T>G (p.Val32430Gly) c.79052T>G (p.Val26351Gly) c.68906T>G (p.Val22969Gly) | |
2 | g.178530458A>G | CA349406868 | TTN,TTN-AS1 | c.98453T>C (p.Val32818Ala) c.79538T>C (p.Val26513Ala) c.79337T>C (p.Val26446Ala) c.78962T>C (p.Val26321Ala) c.106157T>C (p.Val35386Ala) c.101234T>C (p.Val33745Ala) n.446+6822A>G n.220-5274A>G c.105254T>C (p.Val35085Ala) c.79148T>C (p.Val26383Ala) c.79007T>C (p.Val26336Ala) c.105050T>C (p.Val35017Ala) c.100448T>C (p.Val33483Ala) c.100445T>C (p.Val33482Ala) c.97487T>C (p.Val32496Ala) c.79103T>C (p.Val26368Ala) c.100598T>C (p.Val33533Ala) c.100595T>C (p.Val33532Ala) c.100028T>C (p.Val33343Ala) c.97370T>C (p.Val32457Ala) c.97289T>C (p.Val32430Ala) c.79052T>C (p.Val26351Ala) c.68906T>C (p.Val22969Ala) | |
2 | g.178530458A>T | CA349406870 | TTN,TTN-AS1 | c.98453T>A (p.Val32818Glu) c.79538T>A (p.Val26513Glu) c.79337T>A (p.Val26446Glu) c.78962T>A (p.Val26321Glu) c.106157T>A (p.Val35386Glu) c.101234T>A (p.Val33745Glu) n.446+6822A>T n.220-5274A>T c.105254T>A (p.Val35085Glu) c.79148T>A (p.Val26383Glu) c.79007T>A (p.Val26336Glu) c.105050T>A (p.Val35017Glu) c.100448T>A (p.Val33483Glu) c.100445T>A (p.Val33482Glu) c.97487T>A (p.Val32496Glu) c.79103T>A (p.Val26368Glu) c.100598T>A (p.Val33533Glu) c.100595T>A (p.Val33532Glu) c.100028T>A (p.Val33343Glu) c.97370T>A (p.Val32457Glu) c.97289T>A (p.Val32430Glu) c.79052T>A (p.Val26351Glu) c.68906T>A (p.Val22969Glu) | |
2 | g.178530458dup | CA2695196988 | TTN,TTN-AS1 | c.98453dup (p.Ser32819IlefsTer7) c.79538dup (p.Ser26514IlefsTer7) c.79337dup (p.Ser26447IlefsTer7) c.78962dup (p.Ser26322IlefsTer7) c.106157dup (p.Ser35387IlefsTer7) c.101234dup (p.Ser33746IlefsTer7) n.446+6822dup n.220-5274dup c.105254dup (p.Ser35086IlefsTer7) c.79148dup (p.Ser26384IlefsTer7) c.79007dup (p.Ser26337IlefsTer7) c.105050dup (p.Ser35018IlefsTer7) c.100448dup (p.Ser33484IlefsTer7) c.100445dup (p.Ser33483IlefsTer7) c.97487dup (p.Ser32497IlefsTer7) c.79103dup (p.Ser26369IlefsTer7) c.100598dup (p.Ser33534IlefsTer7) c.100595dup (p.Ser33533IlefsTer7) c.100028dup (p.Ser33344IlefsTer7) c.97370dup (p.Ser32458IlefsTer7) c.97289dup (p.Ser32431IlefsTer7) c.79052dup (p.Ser26352IlefsTer7) c.68906dup (p.Ser22970IlefsTer7) | ClinVar |
2 | g.178530459C>A | CA1985154 | TTN,TTN-AS1 | c.98452G>T (p.Val32818Leu) c.79537G>T (p.Val26513Leu) c.79336G>T (p.Val26446Leu) c.78961G>T (p.Val26321Leu) c.106156G>T (p.Val35386Leu) c.101233G>T (p.Val33745Leu) n.446+6823C>A n.220-5273C>A c.105253G>T (p.Val35085Leu) c.79147G>T (p.Val26383Leu) c.79006G>T (p.Val26336Leu) c.105049G>T (p.Val35017Leu) c.100447G>T (p.Val33483Leu) c.100444G>T (p.Val33482Leu) c.97486G>T (p.Val32496Leu) c.79102G>T (p.Val26368Leu) c.100597G>T (p.Val33533Leu) c.100594G>T (p.Val33532Leu) c.100027G>T (p.Val33343Leu) c.97369G>T (p.Val32457Leu) c.97288G>T (p.Val32430Leu) c.79051G>T (p.Val26351Leu) c.68905G>T (p.Val22969Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178530459C= | CA1310514641 | TTN,TTN-AS1 | c.98452G= (p.Val32818=) c.79537G= (p.Val26513=) c.79336G= (p.Val26446=) c.78961G= (p.Val26321=) c.106156G= (p.Val35386=) c.101233G= (p.Val33745=) n.446+6823C= n.220-5273C= c.105253G= (p.Val35085=) c.79147G= (p.Val26383=) c.79006G= (p.Val26336=) c.105049G= (p.Val35017=) c.100447G= (p.Val33483=) c.100444G= (p.Val33482=) c.97486G= (p.Val32496=) c.79102G= (p.Val26368=) c.100597G= (p.Val33533=) c.100594G= (p.Val33532=) c.100027G= (p.Val33343=) c.97369G= (p.Val32457=) c.97288G= (p.Val32430=) c.79051G= (p.Val26351=) c.68905G= (p.Val22969=) | |
2 | g.178530459C>G | CA349406875 | TTN,TTN-AS1 | c.98452G>C (p.Val32818Leu) c.79537G>C (p.Val26513Leu) c.79336G>C (p.Val26446Leu) c.78961G>C (p.Val26321Leu) c.106156G>C (p.Val35386Leu) c.101233G>C (p.Val33745Leu) n.446+6823C>G n.220-5273C>G c.105253G>C (p.Val35085Leu) c.79147G>C (p.Val26383Leu) c.79006G>C (p.Val26336Leu) c.105049G>C (p.Val35017Leu) c.100447G>C (p.Val33483Leu) c.100444G>C (p.Val33482Leu) c.97486G>C (p.Val32496Leu) c.79102G>C (p.Val26368Leu) c.100597G>C (p.Val33533Leu) c.100594G>C (p.Val33532Leu) c.100027G>C (p.Val33343Leu) c.97369G>C (p.Val32457Leu) c.97288G>C (p.Val32430Leu) c.79051G>C (p.Val26351Leu) c.68905G>C (p.Val22969Leu) | |
2 | g.178530459C>T | CA349406877 | TTN,TTN-AS1 | c.98452G>A (p.Val32818Ile) c.79537G>A (p.Val26513Ile) c.79336G>A (p.Val26446Ile) c.78961G>A (p.Val26321Ile) c.106156G>A (p.Val35386Ile) c.101233G>A (p.Val33745Ile) n.446+6823C>T n.220-5273C>T c.105253G>A (p.Val35085Ile) c.79147G>A (p.Val26383Ile) c.79006G>A (p.Val26336Ile) c.105049G>A (p.Val35017Ile) c.100447G>A (p.Val33483Ile) c.100444G>A (p.Val33482Ile) c.97486G>A (p.Val32496Ile) c.79102G>A (p.Val26368Ile) c.100597G>A (p.Val33533Ile) c.100594G>A (p.Val33532Ile) c.100027G>A (p.Val33343Ile) c.97369G>A (p.Val32457Ile) c.97288G>A (p.Val32430Ile) c.79051G>A (p.Val26351Ile) c.68905G>A (p.Val22969Ile) | |
2 | g.178530460C>A | CA349406881 | TTN,TTN-AS1 | c.98451G>T (p.Lys32817Asn) c.79536G>T (p.Lys26512Asn) c.79335G>T (p.Lys26445Asn) c.78960G>T (p.Lys26320Asn) c.106155G>T (p.Lys35385Asn) c.101232G>T (p.Lys33744Asn) n.446+6824C>A n.220-5272C>A c.105252G>T (p.Lys35084Asn) c.79146G>T (p.Lys26382Asn) c.79005G>T (p.Lys26335Asn) c.105048G>T (p.Lys35016Asn) c.100446G>T (p.Lys33482Asn) c.100443G>T (p.Lys33481Asn) c.97485G>T (p.Lys32495Asn) c.79101G>T (p.Lys26367Asn) c.100596G>T (p.Lys33532Asn) c.100593G>T (p.Lys33531Asn) c.100026G>T (p.Lys33342Asn) c.97368G>T (p.Lys32456Asn) c.97287G>T (p.Lys32429Asn) c.79050G>T (p.Lys26350Asn) c.68904G>T (p.Lys22968Asn) | |
2 | g.178530460C= | CA1310514643 | TTN,TTN-AS1 | c.98451G= (p.Lys32817=) c.79536G= (p.Lys26512=) c.79335G= (p.Lys26445=) c.78960G= (p.Lys26320=) c.106155G= (p.Lys35385=) c.101232G= (p.Lys33744=) n.446+6824C= n.220-5272C= c.105252G= (p.Lys35084=) c.79146G= (p.Lys26382=) c.79005G= (p.Lys26335=) c.105048G= (p.Lys35016=) c.100446G= (p.Lys33482=) c.100443G= (p.Lys33481=) c.97485G= (p.Lys32495=) c.79101G= (p.Lys26367=) c.100596G= (p.Lys33532=) c.100593G= (p.Lys33531=) c.100026G= (p.Lys33342=) c.97368G= (p.Lys32456=) c.97287G= (p.Lys32429=) c.79050G= (p.Lys26350=) c.68904G= (p.Lys22968=) | |
2 | g.178530460C>G | CA349406879 | TTN,TTN-AS1 | c.98451G>C (p.Lys32817Asn) c.79536G>C (p.Lys26512Asn) c.79335G>C (p.Lys26445Asn) c.78960G>C (p.Lys26320Asn) c.106155G>C (p.Lys35385Asn) c.101232G>C (p.Lys33744Asn) n.446+6824C>G n.220-5272C>G c.105252G>C (p.Lys35084Asn) c.79146G>C (p.Lys26382Asn) c.79005G>C (p.Lys26335Asn) c.105048G>C (p.Lys35016Asn) c.100446G>C (p.Lys33482Asn) c.100443G>C (p.Lys33481Asn) c.97485G>C (p.Lys32495Asn) c.79101G>C (p.Lys26367Asn) c.100596G>C (p.Lys33532Asn) c.100593G>C (p.Lys33531Asn) c.100026G>C (p.Lys33342Asn) c.97368G>C (p.Lys32456Asn) c.97287G>C (p.Lys32429Asn) c.79050G>C (p.Lys26350Asn) c.68904G>C (p.Lys22968Asn) | dbSNP |
2 | g.178530460C>T | CA1985155 | TTN,TTN-AS1 | c.98451G>A (p.Lys32817=) c.79536G>A (p.Lys26512=) c.79335G>A (p.Lys26445=) c.78960G>A (p.Lys26320=) c.106155G>A (p.Lys35385=) c.101232G>A (p.Lys33744=) n.446+6824C>T n.220-5272C>T c.105252G>A (p.Lys35084=) c.79146G>A (p.Lys26382=) c.79005G>A (p.Lys26335=) c.105048G>A (p.Lys35016=) c.100446G>A (p.Lys33482=) c.100443G>A (p.Lys33481=) c.97485G>A (p.Lys32495=) c.79101G>A (p.Lys26367=) c.100596G>A (p.Lys33532=) c.100593G>A (p.Lys33531=) c.100026G>A (p.Lys33342=) c.97368G>A (p.Lys32456=) c.97287G>A (p.Lys32429=) c.79050G>A (p.Lys26350=) c.68904G>A (p.Lys22968=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.178530461T>A | CA349406884 | TTN,TTN-AS1 | c.98450A>T (p.Lys32817Met) c.79535A>T (p.Lys26512Met) c.79334A>T (p.Lys26445Met) c.78959A>T (p.Lys26320Met) c.106154A>T (p.Lys35385Met) c.101231A>T (p.Lys33744Met) n.446+6825T>A n.220-5271T>A c.105251A>T (p.Lys35084Met) c.79145A>T (p.Lys26382Met) c.79004A>T (p.Lys26335Met) c.105047A>T (p.Lys35016Met) c.100445A>T (p.Lys33482Met) c.100442A>T (p.Lys33481Met) c.97484A>T (p.Lys32495Met) c.79100A>T (p.Lys26367Met) c.100595A>T (p.Lys33532Met) c.100592A>T (p.Lys33531Met) c.100025A>T (p.Lys33342Met) c.97367A>T (p.Lys32456Met) c.97286A>T (p.Lys32429Met) c.79049A>T (p.Lys26350Met) c.68903A>T (p.Lys22968Met) | COSMIC COSMIC COSMIC COSMIC |
2 | g.178530461T>C | CA349406886 | TTN,TTN-AS1 | c.98450A>G (p.Lys32817Arg) c.79535A>G (p.Lys26512Arg) c.79334A>G (p.Lys26445Arg) c.78959A>G (p.Lys26320Arg) c.106154A>G (p.Lys35385Arg) c.101231A>G (p.Lys33744Arg) n.446+6825T>C n.220-5271T>C c.105251A>G (p.Lys35084Arg) c.79145A>G (p.Lys26382Arg) c.79004A>G (p.Lys26335Arg) c.105047A>G (p.Lys35016Arg) c.100445A>G (p.Lys33482Arg) c.100442A>G (p.Lys33481Arg) c.97484A>G (p.Lys32495Arg) c.79100A>G (p.Lys26367Arg) c.100595A>G (p.Lys33532Arg) c.100592A>G (p.Lys33531Arg) c.100025A>G (p.Lys33342Arg) c.97367A>G (p.Lys32456Arg) c.97286A>G (p.Lys32429Arg) c.79049A>G (p.Lys26350Arg) c.68903A>G (p.Lys22968Arg) | |
2 | g.178530461T>G | CA1985156 | TTN,TTN-AS1 | c.98450A>C (p.Lys32817Thr) c.79535A>C (p.Lys26512Thr) c.79334A>C (p.Lys26445Thr) c.78959A>C (p.Lys26320Thr) c.106154A>C (p.Lys35385Thr) c.101231A>C (p.Lys33744Thr) n.446+6825T>G n.220-5271T>G c.105251A>C (p.Lys35084Thr) c.79145A>C (p.Lys26382Thr) c.79004A>C (p.Lys26335Thr) c.105047A>C (p.Lys35016Thr) c.100445A>C (p.Lys33482Thr) c.100442A>C (p.Lys33481Thr) c.97484A>C (p.Lys32495Thr) c.79100A>C (p.Lys26367Thr) c.100595A>C (p.Lys33532Thr) c.100592A>C (p.Lys33531Thr) c.100025A>C (p.Lys33342Thr) c.97367A>C (p.Lys32456Thr) c.97286A>C (p.Lys32429Thr) c.79049A>C (p.Lys26350Thr) c.68903A>C (p.Lys22968Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178530461T= | CA1310514644 | TTN,TTN-AS1 | c.98450A= (p.Lys32817=) c.79535A= (p.Lys26512=) c.79334A= (p.Lys26445=) c.78959A= (p.Lys26320=) c.106154A= (p.Lys35385=) c.101231A= (p.Lys33744=) n.446+6825T= n.220-5271T= c.105251A= (p.Lys35084=) c.79145A= (p.Lys26382=) c.79004A= (p.Lys26335=) c.105047A= (p.Lys35016=) c.100445A= (p.Lys33482=) c.100442A= (p.Lys33481=) c.97484A= (p.Lys32495=) c.79100A= (p.Lys26367=) c.100595A= (p.Lys33532=) c.100592A= (p.Lys33531=) c.100025A= (p.Lys33342=) c.97367A= (p.Lys32456=) c.97286A= (p.Lys32429=) c.79049A= (p.Lys26350=) c.68903A= (p.Lys22968=) | |
2 | g.178530462T>A | CA349406889 | TTN,TTN-AS1 | c.98449A>T (p.Lys32817Ter) c.79534A>T (p.Lys26512Ter) c.79333A>T (p.Lys26445Ter) c.78958A>T (p.Lys26320Ter) c.106153A>T (p.Lys35385Ter) c.101230A>T (p.Lys33744Ter) n.446+6826T>A n.220-5270T>A c.105250A>T (p.Lys35084Ter) c.79144A>T (p.Lys26382Ter) c.79003A>T (p.Lys26335Ter) c.105046A>T (p.Lys35016Ter) c.100444A>T (p.Lys33482Ter) c.100441A>T (p.Lys33481Ter) c.97483A>T (p.Lys32495Ter) c.79099A>T (p.Lys26367Ter) c.100594A>T (p.Lys33532Ter) c.100591A>T (p.Lys33531Ter) c.100024A>T (p.Lys33342Ter) c.97366A>T (p.Lys32456Ter) c.97285A>T (p.Lys32429Ter) c.79048A>T (p.Lys26350Ter) c.68902A>T (p.Lys22968Ter) | |
2 | g.178530462T>C | CA349406891 | TTN,TTN-AS1 | c.98449A>G (p.Lys32817Glu) c.79534A>G (p.Lys26512Glu) c.79333A>G (p.Lys26445Glu) c.78958A>G (p.Lys26320Glu) c.106153A>G (p.Lys35385Glu) c.101230A>G (p.Lys33744Glu) n.446+6826T>C n.220-5270T>C c.105250A>G (p.Lys35084Glu) c.79144A>G (p.Lys26382Glu) c.79003A>G (p.Lys26335Glu) c.105046A>G (p.Lys35016Glu) c.100444A>G (p.Lys33482Glu) c.100441A>G (p.Lys33481Glu) c.97483A>G (p.Lys32495Glu) c.79099A>G (p.Lys26367Glu) c.100594A>G (p.Lys33532Glu) c.100591A>G (p.Lys33531Glu) c.100024A>G (p.Lys33342Glu) c.97366A>G (p.Lys32456Glu) c.97285A>G (p.Lys32429Glu) c.79048A>G (p.Lys26350Glu) c.68902A>G (p.Lys22968Glu) | |
2 | g.178530462T>G | CA349406893 | TTN,TTN-AS1 | c.98449A>C (p.Lys32817Gln) c.79534A>C (p.Lys26512Gln) c.79333A>C (p.Lys26445Gln) c.78958A>C (p.Lys26320Gln) c.106153A>C (p.Lys35385Gln) c.101230A>C (p.Lys33744Gln) n.446+6826T>G n.220-5270T>G c.105250A>C (p.Lys35084Gln) c.79144A>C (p.Lys26382Gln) c.79003A>C (p.Lys26335Gln) c.105046A>C (p.Lys35016Gln) c.100444A>C (p.Lys33482Gln) c.100441A>C (p.Lys33481Gln) c.97483A>C (p.Lys32495Gln) c.79099A>C (p.Lys26367Gln) c.100594A>C (p.Lys33532Gln) c.100591A>C (p.Lys33531Gln) c.100024A>C (p.Lys33342Gln) c.97366A>C (p.Lys32456Gln) c.97285A>C (p.Lys32429Gln) c.79048A>C (p.Lys26350Gln) c.68902A>C (p.Lys22968Gln) | |
2 | g.178530463C>A | CA349406896 | TTN,TTN-AS1 | c.98448G>T (p.Glu32816Asp) c.79533G>T (p.Glu26511Asp) c.79332G>T (p.Glu26444Asp) c.78957G>T (p.Glu26319Asp) c.106152G>T (p.Glu35384Asp) c.101229G>T (p.Glu33743Asp) n.446+6827C>A n.220-5269C>A c.105249G>T (p.Glu35083Asp) c.79143G>T (p.Glu26381Asp) c.79002G>T (p.Glu26334Asp) c.105045G>T (p.Glu35015Asp) c.100443G>T (p.Glu33481Asp) c.100440G>T (p.Glu33480Asp) c.97482G>T (p.Glu32494Asp) c.79098G>T (p.Glu26366Asp) c.100593G>T (p.Glu33531Asp) c.100590G>T (p.Glu33530Asp) c.100023G>T (p.Glu33341Asp) c.97365G>T (p.Glu32455Asp) c.97284G>T (p.Glu32428Asp) c.79047G>T (p.Glu26349Asp) c.68901G>T (p.Glu22967Asp) | |
2 | g.178530463C= | CA1310514645 | TTN,TTN-AS1 | c.98448G= (p.Glu32816=) c.79533G= (p.Glu26511=) c.79332G= (p.Glu26444=) c.78957G= (p.Glu26319=) c.106152G= (p.Glu35384=) c.101229G= (p.Glu33743=) n.446+6827C= n.220-5269C= c.105249G= (p.Glu35083=) c.79143G= (p.Glu26381=) c.79002G= (p.Glu26334=) c.105045G= (p.Glu35015=) c.100443G= (p.Glu33481=) c.100440G= (p.Glu33480=) c.97482G= (p.Glu32494=) c.79098G= (p.Glu26366=) c.100593G= (p.Glu33531=) c.100590G= (p.Glu33530=) c.100023G= (p.Glu33341=) c.97365G= (p.Glu32455=) c.97284G= (p.Glu32428=) c.79047G= (p.Glu26349=) c.68901G= (p.Glu22967=) | |
2 | g.178530463C>G | CA349406899 | TTN,TTN-AS1 | c.98448G>C (p.Glu32816Asp) c.79533G>C (p.Glu26511Asp) c.79332G>C (p.Glu26444Asp) c.78957G>C (p.Glu26319Asp) c.106152G>C (p.Glu35384Asp) c.101229G>C (p.Glu33743Asp) n.446+6827C>G n.220-5269C>G c.105249G>C (p.Glu35083Asp) c.79143G>C (p.Glu26381Asp) c.79002G>C (p.Glu26334Asp) c.105045G>C (p.Glu35015Asp) c.100443G>C (p.Glu33481Asp) c.100440G>C (p.Glu33480Asp) c.97482G>C (p.Glu32494Asp) c.79098G>C (p.Glu26366Asp) c.100593G>C (p.Glu33531Asp) c.100590G>C (p.Glu33530Asp) c.100023G>C (p.Glu33341Asp) c.97365G>C (p.Glu32455Asp) c.97284G>C (p.Glu32428Asp) c.79047G>C (p.Glu26349Asp) c.68901G>C (p.Glu22967Asp) | |
2 | g.178530463C>T | CA1985157 | TTN,TTN-AS1 | c.98448G>A (p.Glu32816=) c.79533G>A (p.Glu26511=) c.79332G>A (p.Glu26444=) c.78957G>A (p.Glu26319=) c.106152G>A (p.Glu35384=) c.101229G>A (p.Glu33743=) n.446+6827C>T n.220-5269C>T c.105249G>A (p.Glu35083=) c.79143G>A (p.Glu26381=) c.79002G>A (p.Glu26334=) c.105045G>A (p.Glu35015=) c.100443G>A (p.Glu33481=) c.100440G>A (p.Glu33480=) c.97482G>A (p.Glu32494=) c.79098G>A (p.Glu26366=) c.100593G>A (p.Glu33531=) c.100590G>A (p.Glu33530=) c.100023G>A (p.Glu33341=) c.97365G>A (p.Glu32455=) c.97284G>A (p.Glu32428=) c.79047G>A (p.Glu26349=) c.68901G>A (p.Glu22967=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178530464T>A | CA349406901 | TTN,TTN-AS1 | c.98447A>T (p.Glu32816Val) c.79532A>T (p.Glu26511Val) c.79331A>T (p.Glu26444Val) c.78956A>T (p.Glu26319Val) c.106151A>T (p.Glu35384Val) c.101228A>T (p.Glu33743Val) n.446+6828T>A n.220-5268T>A c.105248A>T (p.Glu35083Val) c.79142A>T (p.Glu26381Val) c.79001A>T (p.Glu26334Val) c.105044A>T (p.Glu35015Val) c.100442A>T (p.Glu33481Val) c.100439A>T (p.Glu33480Val) c.97481A>T (p.Glu32494Val) c.79097A>T (p.Glu26366Val) c.100592A>T (p.Glu33531Val) c.100589A>T (p.Glu33530Val) c.100022A>T (p.Glu33341Val) c.97364A>T (p.Glu32455Val) c.97283A>T (p.Glu32428Val) c.79046A>T (p.Glu26349Val) c.68900A>T (p.Glu22967Val) | |
2 | g.178530464T>C | CA349406903 | TTN,TTN-AS1 | c.98447A>G (p.Glu32816Gly) c.79532A>G (p.Glu26511Gly) c.79331A>G (p.Glu26444Gly) c.78956A>G (p.Glu26319Gly) c.106151A>G (p.Glu35384Gly) c.101228A>G (p.Glu33743Gly) n.446+6828T>C n.220-5268T>C c.105248A>G (p.Glu35083Gly) c.79142A>G (p.Glu26381Gly) c.79001A>G (p.Glu26334Gly) c.105044A>G (p.Glu35015Gly) c.100442A>G (p.Glu33481Gly) c.100439A>G (p.Glu33480Gly) c.97481A>G (p.Glu32494Gly) c.79097A>G (p.Glu26366Gly) c.100592A>G (p.Glu33531Gly) c.100589A>G (p.Glu33530Gly) c.100022A>G (p.Glu33341Gly) c.97364A>G (p.Glu32455Gly) c.97283A>G (p.Glu32428Gly) c.79046A>G (p.Glu26349Gly) c.68900A>G (p.Glu22967Gly) | |
2 | g.178530464T>G | CA349406905 | TTN,TTN-AS1 | c.98447A>C (p.Glu32816Ala) c.79532A>C (p.Glu26511Ala) c.79331A>C (p.Glu26444Ala) c.78956A>C (p.Glu26319Ala) c.106151A>C (p.Glu35384Ala) c.101228A>C (p.Glu33743Ala) n.446+6828T>G n.220-5268T>G c.105248A>C (p.Glu35083Ala) c.79142A>C (p.Glu26381Ala) c.79001A>C (p.Glu26334Ala) c.105044A>C (p.Glu35015Ala) c.100442A>C (p.Glu33481Ala) c.100439A>C (p.Glu33480Ala) c.97481A>C (p.Glu32494Ala) c.79097A>C (p.Glu26366Ala) c.100592A>C (p.Glu33531Ala) c.100589A>C (p.Glu33530Ala) c.100022A>C (p.Glu33341Ala) c.97364A>C (p.Glu32455Ala) c.97283A>C (p.Glu32428Ala) c.79046A>C (p.Glu26349Ala) c.68900A>C (p.Glu22967Ala) | |
2 | g.178530465C>A | CA349406907 | TTN,TTN-AS1 | c.98446G>T (p.Glu32816Ter) c.79531G>T (p.Glu26511Ter) c.79330G>T (p.Glu26444Ter) c.78955G>T (p.Glu26319Ter) c.106150G>T (p.Glu35384Ter) c.101227G>T (p.Glu33743Ter) n.446+6829C>A n.220-5267C>A c.105247G>T (p.Glu35083Ter) c.79141G>T (p.Glu26381Ter) c.79000G>T (p.Glu26334Ter) c.105043G>T (p.Glu35015Ter) c.100441G>T (p.Glu33481Ter) c.100438G>T (p.Glu33480Ter) c.97480G>T (p.Glu32494Ter) c.79096G>T (p.Glu26366Ter) c.100591G>T (p.Glu33531Ter) c.100588G>T (p.Glu33530Ter) c.100021G>T (p.Glu33341Ter) c.97363G>T (p.Glu32455Ter) c.97282G>T (p.Glu32428Ter) c.79045G>T (p.Glu26349Ter) c.68899G>T (p.Glu22967Ter) | |
2 | g.178530465C= | CA1310514647 | TTN,TTN-AS1 | c.98446G= (p.Glu32816=) c.79531G= (p.Glu26511=) c.79330G= (p.Glu26444=) c.78955G= (p.Glu26319=) c.106150G= (p.Glu35384=) c.101227G= (p.Glu33743=) n.446+6829C= n.220-5267C= c.105247G= (p.Glu35083=) c.79141G= (p.Glu26381=) c.79000G= (p.Glu26334=) c.105043G= (p.Glu35015=) c.100441G= (p.Glu33481=) c.100438G= (p.Glu33480=) c.97480G= (p.Glu32494=) c.79096G= (p.Glu26366=) c.100591G= (p.Glu33531=) c.100588G= (p.Glu33530=) c.100021G= (p.Glu33341=) c.97363G= (p.Glu32455=) c.97282G= (p.Glu32428=) c.79045G= (p.Glu26349=) c.68899G= (p.Glu22967=) | |
2 | g.178530465C>G | CA349406909 | TTN,TTN-AS1 | c.98446G>C (p.Glu32816Gln) c.79531G>C (p.Glu26511Gln) c.79330G>C (p.Glu26444Gln) c.78955G>C (p.Glu26319Gln) c.106150G>C (p.Glu35384Gln) c.101227G>C (p.Glu33743Gln) n.446+6829C>G n.220-5267C>G c.105247G>C (p.Glu35083Gln) c.79141G>C (p.Glu26381Gln) c.79000G>C (p.Glu26334Gln) c.105043G>C (p.Glu35015Gln) c.100441G>C (p.Glu33481Gln) c.100438G>C (p.Glu33480Gln) c.97480G>C (p.Glu32494Gln) c.79096G>C (p.Glu26366Gln) c.100591G>C (p.Glu33531Gln) c.100588G>C (p.Glu33530Gln) c.100021G>C (p.Glu33341Gln) c.97363G>C (p.Glu32455Gln) c.97282G>C (p.Glu32428Gln) c.79045G>C (p.Glu26349Gln) c.68899G>C (p.Glu22967Gln) | dbSNP gnomAD v2 |
2 | g.178530465C>T | CA349406911 | TTN,TTN-AS1 | c.98446G>A (p.Glu32816Lys) c.79531G>A (p.Glu26511Lys) c.79330G>A (p.Glu26444Lys) c.78955G>A (p.Glu26319Lys) c.106150G>A (p.Glu35384Lys) c.101227G>A (p.Glu33743Lys) n.446+6829C>T n.220-5267C>T c.105247G>A (p.Glu35083Lys) c.79141G>A (p.Glu26381Lys) c.79000G>A (p.Glu26334Lys) c.105043G>A (p.Glu35015Lys) c.100441G>A (p.Glu33481Lys) c.100438G>A (p.Glu33480Lys) c.97480G>A (p.Glu32494Lys) c.79096G>A (p.Glu26366Lys) c.100591G>A (p.Glu33531Lys) c.100588G>A (p.Glu33530Lys) c.100021G>A (p.Glu33341Lys) c.97363G>A (p.Glu32455Lys) c.97282G>A (p.Glu32428Lys) c.79045G>A (p.Glu26349Lys) c.68899G>A (p.Glu22967Lys) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC |
2 | g.178530466A>C | CA349406913 | TTN,TTN-AS1 | c.98445T>G (p.His32815Gln) c.79530T>G (p.His26510Gln) c.79329T>G (p.His26443Gln) c.78954T>G (p.His26318Gln) c.106149T>G (p.His35383Gln) c.101226T>G (p.His33742Gln) n.446+6830A>C n.220-5266A>C c.105246T>G (p.His35082Gln) c.79140T>G (p.His26380Gln) c.78999T>G (p.His26333Gln) c.105042T>G (p.His35014Gln) c.100440T>G (p.His33480Gln) c.100437T>G (p.His33479Gln) c.97479T>G (p.His32493Gln) c.79095T>G (p.His26365Gln) c.100590T>G (p.His33530Gln) c.100587T>G (p.His33529Gln) c.100020T>G (p.His33340Gln) c.97362T>G (p.His32454Gln) c.97281T>G (p.His32427Gln) c.79044T>G (p.His26348Gln) c.68898T>G (p.His22966Gln) | gnomAD v4 |
2 | g.178530466A>G | CA430235035 | TTN,TTN-AS1 | c.98445T>C (p.His32815=) c.79530T>C (p.His26510=) c.79329T>C (p.His26443=) c.78954T>C (p.His26318=) c.106149T>C (p.His35383=) c.101226T>C (p.His33742=) n.446+6830A>G n.220-5266A>G c.105246T>C (p.His35082=) c.79140T>C (p.His26380=) c.78999T>C (p.His26333=) c.105042T>C (p.His35014=) c.100440T>C (p.His33480=) c.100437T>C (p.His33479=) c.97479T>C (p.His32493=) c.79095T>C (p.His26365=) c.100590T>C (p.His33530=) c.100587T>C (p.His33529=) c.100020T>C (p.His33340=) c.97362T>C (p.His32454=) c.97281T>C (p.His32427=) c.79044T>C (p.His26348=) c.68898T>C (p.His22966=) | |
2 | g.178530466A>T | CA349406915 | TTN,TTN-AS1 | c.98445T>A (p.His32815Gln) c.79530T>A (p.His26510Gln) c.79329T>A (p.His26443Gln) c.78954T>A (p.His26318Gln) c.106149T>A (p.His35383Gln) c.101226T>A (p.His33742Gln) n.446+6830A>T n.220-5266A>T c.105246T>A (p.His35082Gln) c.79140T>A (p.His26380Gln) c.78999T>A (p.His26333Gln) c.105042T>A (p.His35014Gln) c.100440T>A (p.His33480Gln) c.100437T>A (p.His33479Gln) c.97479T>A (p.His32493Gln) c.79095T>A (p.His26365Gln) c.100590T>A (p.His33530Gln) c.100587T>A (p.His33529Gln) c.100020T>A (p.His33340Gln) c.97362T>A (p.His32454Gln) c.97281T>A (p.His32427Gln) c.79044T>A (p.His26348Gln) c.68898T>A (p.His22966Gln) | |
2 | g.178530467T>A | CA349406918 | TTN,TTN-AS1 | c.98444A>T (p.His32815Leu) c.79529A>T (p.His26510Leu) c.79328A>T (p.His26443Leu) c.78953A>T (p.His26318Leu) c.106148A>T (p.His35383Leu) c.101225A>T (p.His33742Leu) n.446+6831T>A n.220-5265T>A c.105245A>T (p.His35082Leu) c.79139A>T (p.His26380Leu) c.78998A>T (p.His26333Leu) c.105041A>T (p.His35014Leu) c.100439A>T (p.His33480Leu) c.100436A>T (p.His33479Leu) c.97478A>T (p.His32493Leu) c.79094A>T (p.His26365Leu) c.100589A>T (p.His33530Leu) c.100586A>T (p.His33529Leu) c.100019A>T (p.His33340Leu) c.97361A>T (p.His32454Leu) c.97280A>T (p.His32427Leu) c.79043A>T (p.His26348Leu) c.68897A>T (p.His22966Leu) | |
2 | g.178530467T>C | CA349406920 | TTN,TTN-AS1 | c.98444A>G (p.His32815Arg) c.79529A>G (p.His26510Arg) c.79328A>G (p.His26443Arg) c.78953A>G (p.His26318Arg) c.106148A>G (p.His35383Arg) c.101225A>G (p.His33742Arg) n.446+6831T>C n.220-5265T>C c.105245A>G (p.His35082Arg) c.79139A>G (p.His26380Arg) c.78998A>G (p.His26333Arg) c.105041A>G (p.His35014Arg) c.100439A>G (p.His33480Arg) c.100436A>G (p.His33479Arg) c.97478A>G (p.His32493Arg) c.79094A>G (p.His26365Arg) c.100589A>G (p.His33530Arg) c.100586A>G (p.His33529Arg) c.100019A>G (p.His33340Arg) c.97361A>G (p.His32454Arg) c.97280A>G (p.His32427Arg) c.79043A>G (p.His26348Arg) c.68897A>G (p.His22966Arg) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.178530467T>G | CA349406921 | TTN,TTN-AS1 | c.98444A>C (p.His32815Pro) c.79529A>C (p.His26510Pro) c.79328A>C (p.His26443Pro) c.78953A>C (p.His26318Pro) c.106148A>C (p.His35383Pro) c.101225A>C (p.His33742Pro) n.446+6831T>G n.220-5265T>G c.105245A>C (p.His35082Pro) c.79139A>C (p.His26380Pro) c.78998A>C (p.His26333Pro) c.105041A>C (p.His35014Pro) c.100439A>C (p.His33480Pro) c.100436A>C (p.His33479Pro) c.97478A>C (p.His32493Pro) c.79094A>C (p.His26365Pro) c.100589A>C (p.His33530Pro) c.100586A>C (p.His33529Pro) c.100019A>C (p.His33340Pro) c.97361A>C (p.His32454Pro) c.97280A>C (p.His32427Pro) c.79043A>C (p.His26348Pro) c.68897A>C (p.His22966Pro) | |
2 | g.178530467T= | CA1310514651 | TTN,TTN-AS1 | c.98444A= (p.His32815=) c.79529A= (p.His26510=) c.79328A= (p.His26443=) c.78953A= (p.His26318=) c.106148A= (p.His35383=) c.101225A= (p.His33742=) n.446+6831T= n.220-5265T= c.105245A= (p.His35082=) c.79139A= (p.His26380=) c.78998A= (p.His26333=) c.105041A= (p.His35014=) c.100439A= (p.His33480=) c.100436A= (p.His33479=) c.97478A= (p.His32493=) c.79094A= (p.His26365=) c.100589A= (p.His33530=) c.100586A= (p.His33529=) c.100019A= (p.His33340=) c.97361A= (p.His32454=) c.97280A= (p.His32427=) c.79043A= (p.His26348=) c.68897A= (p.His22966=) | |
2 | g.178530468G>A | CA349406922 | TTN,TTN-AS1 | c.98443C>T (p.His32815Tyr) c.79528C>T (p.His26510Tyr) c.79327C>T (p.His26443Tyr) c.78952C>T (p.His26318Tyr) c.106147C>T (p.His35383Tyr) c.101224C>T (p.His33742Tyr) n.446+6832G>A n.220-5264G>A c.105244C>T (p.His35082Tyr) c.79138C>T (p.His26380Tyr) c.78997C>T (p.His26333Tyr) c.105040C>T (p.His35014Tyr) c.100438C>T (p.His33480Tyr) c.100435C>T (p.His33479Tyr) c.97477C>T (p.His32493Tyr) c.79093C>T (p.His26365Tyr) c.100588C>T (p.His33530Tyr) c.100585C>T (p.His33529Tyr) c.100018C>T (p.His33340Tyr) c.97360C>T (p.His32454Tyr) c.97279C>T (p.His32427Tyr) c.79042C>T (p.His26348Tyr) c.68896C>T (p.His22966Tyr) | |
2 | g.178530468G>C | CA349406927 | TTN,TTN-AS1 | c.98443C>G (p.His32815Asp) c.79528C>G (p.His26510Asp) c.79327C>G (p.His26443Asp) c.78952C>G (p.His26318Asp) c.106147C>G (p.His35383Asp) c.101224C>G (p.His33742Asp) n.446+6832G>C n.220-5264G>C c.105244C>G (p.His35082Asp) c.79138C>G (p.His26380Asp) c.78997C>G (p.His26333Asp) c.105040C>G (p.His35014Asp) c.100438C>G (p.His33480Asp) c.100435C>G (p.His33479Asp) c.97477C>G (p.His32493Asp) c.79093C>G (p.His26365Asp) c.100588C>G (p.His33530Asp) c.100585C>G (p.His33529Asp) c.100018C>G (p.His33340Asp) c.97360C>G (p.His32454Asp) c.97279C>G (p.His32427Asp) c.79042C>G (p.His26348Asp) c.68896C>G (p.His22966Asp) | |
2 | g.178530468G>T | CA349406924 | TTN,TTN-AS1 | c.98443C>A (p.His32815Asn) c.79528C>A (p.His26510Asn) c.79327C>A (p.His26443Asn) c.78952C>A (p.His26318Asn) c.106147C>A (p.His35383Asn) c.101224C>A (p.His33742Asn) n.446+6832G>T n.220-5264G>T c.105244C>A (p.His35082Asn) c.79138C>A (p.His26380Asn) c.78997C>A (p.His26333Asn) c.105040C>A (p.His35014Asn) c.100438C>A (p.His33480Asn) c.100435C>A (p.His33479Asn) c.97477C>A (p.His32493Asn) c.79093C>A (p.His26365Asn) c.100588C>A (p.His33530Asn) c.100585C>A (p.His33529Asn) c.100018C>A (p.His33340Asn) c.97360C>A (p.His32454Asn) c.97279C>A (p.His32427Asn) c.79042C>A (p.His26348Asn) c.68896C>A (p.His22966Asn) | |
2 | g.178530469del | CA2586970738 | TTN,TTN-AS1 | c.98443del (p.His32815MetfsTer22) c.79528del (p.His26510MetfsTer22) c.79327del (p.His26443MetfsTer22) c.78952del (p.His26318MetfsTer22) c.106147del (p.His35383MetfsTer22) c.101224del (p.His33742MetfsTer22) n.446+6833del n.220-5263del c.105244del (p.His35082MetfsTer22) c.79138del (p.His26380MetfsTer22) c.78997del (p.His26333MetfsTer22) c.105040del (p.His35014MetfsTer22) c.100438del (p.His33480MetfsTer22) c.100435del (p.His33479MetfsTer22) c.97477del (p.His32493MetfsTer22) c.79093del (p.His26365MetfsTer22) c.100588del (p.His33530MetfsTer22) c.100585del (p.His33529MetfsTer22) c.100018del (p.His33340MetfsTer22) c.97360del (p.His32454MetfsTer22) c.97279del (p.His32427MetfsTer22) c.79042del (p.His26348MetfsTer22) c.68896del (p.His22966MetfsTer22) | gnomAD v4 |
2 | g.178530469G>A | CA430235043 | TTN,TTN-AS1 | c.98442C>T (p.Ile32814=) c.79527C>T (p.Ile26509=) c.79326C>T (p.Ile26442=) c.78951C>T (p.Ile26317=) c.106146C>T (p.Ile35382=) c.101223C>T (p.Ile33741=) n.446+6833G>A n.220-5263G>A c.105243C>T (p.Ile35081=) c.79137C>T (p.Ile26379=) c.78996C>T (p.Ile26332=) c.105039C>T (p.Ile35013=) c.100437C>T (p.Ile33479=) c.100434C>T (p.Ile33478=) c.97476C>T (p.Ile32492=) c.79092C>T (p.Ile26364=) c.100587C>T (p.Ile33529=) c.100584C>T (p.Ile33528=) c.100017C>T (p.Ile33339=) c.97359C>T (p.Ile32453=) c.97278C>T (p.Ile32426=) c.79041C>T (p.Ile26347=) c.68895C>T (p.Ile22965=) | |
2 | g.178530469G>C | CA349406929 | TTN,TTN-AS1 | c.98442C>G (p.Ile32814Met) c.79527C>G (p.Ile26509Met) c.79326C>G (p.Ile26442Met) c.78951C>G (p.Ile26317Met) c.106146C>G (p.Ile35382Met) c.101223C>G (p.Ile33741Met) n.446+6833G>C n.220-5263G>C c.105243C>G (p.Ile35081Met) c.79137C>G (p.Ile26379Met) c.78996C>G (p.Ile26332Met) c.105039C>G (p.Ile35013Met) c.100437C>G (p.Ile33479Met) c.100434C>G (p.Ile33478Met) c.97476C>G (p.Ile32492Met) c.79092C>G (p.Ile26364Met) c.100587C>G (p.Ile33529Met) c.100584C>G (p.Ile33528Met) c.100017C>G (p.Ile33339Met) c.97359C>G (p.Ile32453Met) c.97278C>G (p.Ile32426Met) c.79041C>G (p.Ile26347Met) c.68895C>G (p.Ile22965Met) | |
2 | g.178530469G= | CA1310514652 | TTN,TTN-AS1 | c.98442C= (p.Ile32814=) c.79527C= (p.Ile26509=) c.79326C= (p.Ile26442=) c.78951C= (p.Ile26317=) c.106146C= (p.Ile35382=) c.101223C= (p.Ile33741=) n.446+6833G= n.220-5263G= c.105243C= (p.Ile35081=) c.79137C= (p.Ile26379=) c.78996C= (p.Ile26332=) c.105039C= (p.Ile35013=) c.100437C= (p.Ile33479=) c.100434C= (p.Ile33478=) c.97476C= (p.Ile32492=) c.79092C= (p.Ile26364=) c.100587C= (p.Ile33529=) c.100584C= (p.Ile33528=) c.100017C= (p.Ile33339=) c.97359C= (p.Ile32453=) c.97278C= (p.Ile32426=) c.79041C= (p.Ile26347=) c.68895C= (p.Ile22965=) | |
2 | g.178530469G>T | CA430235041 | TTN,TTN-AS1 | c.98442C>A (p.Ile32814=) c.79527C>A (p.Ile26509=) c.79326C>A (p.Ile26442=) c.78951C>A (p.Ile26317=) c.106146C>A (p.Ile35382=) c.101223C>A (p.Ile33741=) n.446+6833G>T n.220-5263G>T c.105243C>A (p.Ile35081=) c.79137C>A (p.Ile26379=) c.78996C>A (p.Ile26332=) c.105039C>A (p.Ile35013=) c.100437C>A (p.Ile33479=) c.100434C>A (p.Ile33478=) c.97476C>A (p.Ile32492=) c.79092C>A (p.Ile26364=) c.100587C>A (p.Ile33529=) c.100584C>A (p.Ile33528=) c.100017C>A (p.Ile33339=) c.97359C>A (p.Ile32453=) c.97278C>A (p.Ile32426=) c.79041C>A (p.Ile26347=) c.68895C>A (p.Ile22965=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.178530470A= | CA1310514654 | TTN,TTN-AS1 | c.98441T= (p.Ile32814=) c.79526T= (p.Ile26509=) c.79325T= (p.Ile26442=) c.78950T= (p.Ile26317=) c.106145T= (p.Ile35382=) c.101222T= (p.Ile33741=) n.446+6834A= n.220-5262A= c.105242T= (p.Ile35081=) c.79136T= (p.Ile26379=) c.78995T= (p.Ile26332=) c.105038T= (p.Ile35013=) c.100436T= (p.Ile33479=) c.100433T= (p.Ile33478=) c.97475T= (p.Ile32492=) c.79091T= (p.Ile26364=) c.100586T= (p.Ile33529=) c.100583T= (p.Ile33528=) c.100016T= (p.Ile33339=) c.97358T= (p.Ile32453=) c.97277T= (p.Ile32426=) c.79040T= (p.Ile26347=) c.68894T= (p.Ile22965=) | |
2 | g.178530470A>C | CA349406934 | TTN,TTN-AS1 | c.98441T>G (p.Ile32814Ser) c.79526T>G (p.Ile26509Ser) c.79325T>G (p.Ile26442Ser) c.78950T>G (p.Ile26317Ser) c.106145T>G (p.Ile35382Ser) c.101222T>G (p.Ile33741Ser) n.446+6834A>C n.220-5262A>C c.105242T>G (p.Ile35081Ser) c.79136T>G (p.Ile26379Ser) c.78995T>G (p.Ile26332Ser) c.105038T>G (p.Ile35013Ser) c.100436T>G (p.Ile33479Ser) c.100433T>G (p.Ile33478Ser) c.97475T>G (p.Ile32492Ser) c.79091T>G (p.Ile26364Ser) c.100586T>G (p.Ile33529Ser) c.100583T>G (p.Ile33528Ser) c.100016T>G (p.Ile33339Ser) c.97358T>G (p.Ile32453Ser) c.97277T>G (p.Ile32426Ser) c.79040T>G (p.Ile26347Ser) c.68894T>G (p.Ile22965Ser) | |
2 | g.178530470A>G | CA349406931 | TTN,TTN-AS1 | c.98441T>C (p.Ile32814Thr) c.79526T>C (p.Ile26509Thr) c.79325T>C (p.Ile26442Thr) c.78950T>C (p.Ile26317Thr) c.106145T>C (p.Ile35382Thr) c.101222T>C (p.Ile33741Thr) n.446+6834A>G n.220-5262A>G c.105242T>C (p.Ile35081Thr) c.79136T>C (p.Ile26379Thr) c.78995T>C (p.Ile26332Thr) c.105038T>C (p.Ile35013Thr) c.100436T>C (p.Ile33479Thr) c.100433T>C (p.Ile33478Thr) c.97475T>C (p.Ile32492Thr) c.79091T>C (p.Ile26364Thr) c.100586T>C (p.Ile33529Thr) c.100583T>C (p.Ile33528Thr) c.100016T>C (p.Ile33339Thr) c.97358T>C (p.Ile32453Thr) c.97277T>C (p.Ile32426Thr) c.79040T>C (p.Ile26347Thr) c.68894T>C (p.Ile22965Thr) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.178530470A>T | CA349406933 | TTN,TTN-AS1 | c.98441T>A (p.Ile32814Asn) c.79526T>A (p.Ile26509Asn) c.79325T>A (p.Ile26442Asn) c.78950T>A (p.Ile26317Asn) c.106145T>A (p.Ile35382Asn) c.101222T>A (p.Ile33741Asn) n.446+6834A>T n.220-5262A>T c.105242T>A (p.Ile35081Asn) c.79136T>A (p.Ile26379Asn) c.78995T>A (p.Ile26332Asn) c.105038T>A (p.Ile35013Asn) c.100436T>A (p.Ile33479Asn) c.100433T>A (p.Ile33478Asn) c.97475T>A (p.Ile32492Asn) c.79091T>A (p.Ile26364Asn) c.100586T>A (p.Ile33529Asn) c.100583T>A (p.Ile33528Asn) c.100016T>A (p.Ile33339Asn) c.97358T>A (p.Ile32453Asn) c.97277T>A (p.Ile32426Asn) c.79040T>A (p.Ile26347Asn) c.68894T>A (p.Ile22965Asn) | |
2 | g.178530471T>A | CA349406935 | TTN,TTN-AS1 | c.98440A>T (p.Ile32814Phe) c.79525A>T (p.Ile26509Phe) c.79324A>T (p.Ile26442Phe) c.78949A>T (p.Ile26317Phe) c.106144A>T (p.Ile35382Phe) c.101221A>T (p.Ile33741Phe) n.446+6835T>A n.220-5261T>A c.105241A>T (p.Ile35081Phe) c.79135A>T (p.Ile26379Phe) c.78994A>T (p.Ile26332Phe) c.105037A>T (p.Ile35013Phe) c.100435A>T (p.Ile33479Phe) c.100432A>T (p.Ile33478Phe) c.97474A>T (p.Ile32492Phe) c.79090A>T (p.Ile26364Phe) c.100585A>T (p.Ile33529Phe) c.100582A>T (p.Ile33528Phe) c.100015A>T (p.Ile33339Phe) c.97357A>T (p.Ile32453Phe) c.97276A>T (p.Ile32426Phe) c.79039A>T (p.Ile26347Phe) c.68893A>T (p.Ile22965Phe) | |
2 | g.178530471T>C | CA349406936 | TTN,TTN-AS1 | c.98440A>G (p.Ile32814Val) c.79525A>G (p.Ile26509Val) c.79324A>G (p.Ile26442Val) c.78949A>G (p.Ile26317Val) c.106144A>G (p.Ile35382Val) c.101221A>G (p.Ile33741Val) n.446+6835T>C n.220-5261T>C c.105241A>G (p.Ile35081Val) c.79135A>G (p.Ile26379Val) c.78994A>G (p.Ile26332Val) c.105037A>G (p.Ile35013Val) c.100435A>G (p.Ile33479Val) c.100432A>G (p.Ile33478Val) c.97474A>G (p.Ile32492Val) c.79090A>G (p.Ile26364Val) c.100585A>G (p.Ile33529Val) c.100582A>G (p.Ile33528Val) c.100015A>G (p.Ile33339Val) c.97357A>G (p.Ile32453Val) c.97276A>G (p.Ile32426Val) c.79039A>G (p.Ile26347Val) c.68893A>G (p.Ile22965Val) | |
2 | g.178530471T>G | CA349406937 | TTN,TTN-AS1 | c.98440A>C (p.Ile32814Leu) c.79525A>C (p.Ile26509Leu) c.79324A>C (p.Ile26442Leu) c.78949A>C (p.Ile26317Leu) c.106144A>C (p.Ile35382Leu) c.101221A>C (p.Ile33741Leu) n.446+6835T>G n.220-5261T>G c.105241A>C (p.Ile35081Leu) c.79135A>C (p.Ile26379Leu) c.78994A>C (p.Ile26332Leu) c.105037A>C (p.Ile35013Leu) c.100435A>C (p.Ile33479Leu) c.100432A>C (p.Ile33478Leu) c.97474A>C (p.Ile32492Leu) c.79090A>C (p.Ile26364Leu) c.100585A>C (p.Ile33529Leu) c.100582A>C (p.Ile33528Leu) c.100015A>C (p.Ile33339Leu) c.97357A>C (p.Ile32453Leu) c.97276A>C (p.Ile32426Leu) c.79039A>C (p.Ile26347Leu) c.68893A>C (p.Ile22965Leu) | |
2 | g.178530472A= | CA1310514656 | TTN,TTN-AS1 | c.98439T= (p.Ser32813=) c.79524T= (p.Ser26508=) c.79323T= (p.Ser26441=) c.78948T= (p.Ser26316=) c.106143T= (p.Ser35381=) c.101220T= (p.Ser33740=) n.446+6836A= n.220-5260A= c.105240T= (p.Ser35080=) c.79134T= (p.Ser26378=) c.78993T= (p.Ser26331=) c.105036T= (p.Ser35012=) c.100434T= (p.Ser33478=) c.100431T= (p.Ser33477=) c.97473T= (p.Ser32491=) c.79089T= (p.Ser26363=) c.100584T= (p.Ser33528=) c.100581T= (p.Ser33527=) c.100014T= (p.Ser33338=) c.97356T= (p.Ser32452=) c.97275T= (p.Ser32425=) c.79038T= (p.Ser26346=) c.68892T= (p.Ser22964=) | |
2 | g.178530472A>C | CA349406938 | TTN,TTN-AS1 | c.98439T>G (p.Ser32813Arg) c.79524T>G (p.Ser26508Arg) c.79323T>G (p.Ser26441Arg) c.78948T>G (p.Ser26316Arg) c.106143T>G (p.Ser35381Arg) c.101220T>G (p.Ser33740Arg) n.446+6836A>C n.220-5260A>C c.105240T>G (p.Ser35080Arg) c.79134T>G (p.Ser26378Arg) c.78993T>G (p.Ser26331Arg) c.105036T>G (p.Ser35012Arg) c.100434T>G (p.Ser33478Arg) c.100431T>G (p.Ser33477Arg) c.97473T>G (p.Ser32491Arg) c.79089T>G (p.Ser26363Arg) c.100584T>G (p.Ser33528Arg) c.100581T>G (p.Ser33527Arg) c.100014T>G (p.Ser33338Arg) c.97356T>G (p.Ser32452Arg) c.97275T>G (p.Ser32425Arg) c.79038T>G (p.Ser26346Arg) c.68892T>G (p.Ser22964Arg) | |
2 | g.178530472A>G | CA60953382 | TTN,TTN-AS1 | c.98439T>C (p.Ser32813=) c.79524T>C (p.Ser26508=) c.79323T>C (p.Ser26441=) c.78948T>C (p.Ser26316=) c.106143T>C (p.Ser35381=) c.101220T>C (p.Ser33740=) n.446+6836A>G n.220-5260A>G c.105240T>C (p.Ser35080=) c.79134T>C (p.Ser26378=) c.78993T>C (p.Ser26331=) c.105036T>C (p.Ser35012=) c.100434T>C (p.Ser33478=) c.100431T>C (p.Ser33477=) c.97473T>C (p.Ser32491=) c.79089T>C (p.Ser26363=) c.100584T>C (p.Ser33528=) c.100581T>C (p.Ser33527=) c.100014T>C (p.Ser33338=) c.97356T>C (p.Ser32452=) c.97275T>C (p.Ser32425=) c.79038T>C (p.Ser26346=) c.68892T>C (p.Ser22964=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.178530472A>T | CA349406939 | TTN,TTN-AS1 | c.98439T>A (p.Ser32813Arg) c.79524T>A (p.Ser26508Arg) c.79323T>A (p.Ser26441Arg) c.78948T>A (p.Ser26316Arg) c.106143T>A (p.Ser35381Arg) c.101220T>A (p.Ser33740Arg) n.446+6836A>T n.220-5260A>T c.105240T>A (p.Ser35080Arg) c.79134T>A (p.Ser26378Arg) c.78993T>A (p.Ser26331Arg) c.105036T>A (p.Ser35012Arg) c.100434T>A (p.Ser33478Arg) c.100431T>A (p.Ser33477Arg) c.97473T>A (p.Ser32491Arg) c.79089T>A (p.Ser26363Arg) c.100584T>A (p.Ser33528Arg) c.100581T>A (p.Ser33527Arg) c.100014T>A (p.Ser33338Arg) c.97356T>A (p.Ser32452Arg) c.97275T>A (p.Ser32425Arg) c.79038T>A (p.Ser26346Arg) c.68892T>A (p.Ser22964Arg) | |
2 | g.178530473C>A | CA349406940 | TTN,TTN-AS1 | c.98438G>T (p.Ser32813Ile) c.79523G>T (p.Ser26508Ile) c.79322G>T (p.Ser26441Ile) c.78947G>T (p.Ser26316Ile) c.106142G>T (p.Ser35381Ile) c.101219G>T (p.Ser33740Ile) n.446+6837C>A n.220-5259C>A c.105239G>T (p.Ser35080Ile) c.79133G>T (p.Ser26378Ile) c.78992G>T (p.Ser26331Ile) c.105035G>T (p.Ser35012Ile) c.100433G>T (p.Ser33478Ile) c.100430G>T (p.Ser33477Ile) c.97472G>T (p.Ser32491Ile) c.79088G>T (p.Ser26363Ile) c.100583G>T (p.Ser33528Ile) c.100580G>T (p.Ser33527Ile) c.100013G>T (p.Ser33338Ile) c.97355G>T (p.Ser32452Ile) c.97274G>T (p.Ser32425Ile) c.79037G>T (p.Ser26346Ile) c.68891G>T (p.Ser22964Ile) | gnomAD v4 |
2 | g.178530473C= | CA1310514659 | TTN,TTN-AS1 | c.98438G= (p.Ser32813=) c.79523G= (p.Ser26508=) c.79322G= (p.Ser26441=) c.78947G= (p.Ser26316=) c.106142G= (p.Ser35381=) c.101219G= (p.Ser33740=) n.446+6837C= n.220-5259C= c.105239G= (p.Ser35080=) c.79133G= (p.Ser26378=) c.78992G= (p.Ser26331=) c.105035G= (p.Ser35012=) c.100433G= (p.Ser33478=) c.100430G= (p.Ser33477=) c.97472G= (p.Ser32491=) c.79088G= (p.Ser26363=) c.100583G= (p.Ser33528=) c.100580G= (p.Ser33527=) c.100013G= (p.Ser33338=) c.97355G= (p.Ser32452=) c.97274G= (p.Ser32425=) c.79037G= (p.Ser26346=) c.68891G= (p.Ser22964=) | |
2 | g.178530473C>G | CA349406941 | TTN,TTN-AS1 | c.98438G>C (p.Ser32813Thr) c.79523G>C (p.Ser26508Thr) c.79322G>C (p.Ser26441Thr) c.78947G>C (p.Ser26316Thr) c.106142G>C (p.Ser35381Thr) c.101219G>C (p.Ser33740Thr) n.446+6837C>G n.220-5259C>G c.105239G>C (p.Ser35080Thr) c.79133G>C (p.Ser26378Thr) c.78992G>C (p.Ser26331Thr) c.105035G>C (p.Ser35012Thr) c.100433G>C (p.Ser33478Thr) c.100430G>C (p.Ser33477Thr) c.97472G>C (p.Ser32491Thr) c.79088G>C (p.Ser26363Thr) c.100583G>C (p.Ser33528Thr) c.100580G>C (p.Ser33527Thr) c.100013G>C (p.Ser33338Thr) c.97355G>C (p.Ser32452Thr) c.97274G>C (p.Ser32425Thr) c.79037G>C (p.Ser26346Thr) c.68891G>C (p.Ser22964Thr) | |
2 | g.178530473C>T | CA349406942 | TTN,TTN-AS1 | c.98438G>A (p.Ser32813Asn) c.79523G>A (p.Ser26508Asn) c.79322G>A (p.Ser26441Asn) c.78947G>A (p.Ser26316Asn) c.106142G>A (p.Ser35381Asn) c.101219G>A (p.Ser33740Asn) n.446+6837C>T n.220-5259C>T c.105239G>A (p.Ser35080Asn) c.79133G>A (p.Ser26378Asn) c.78992G>A (p.Ser26331Asn) c.105035G>A (p.Ser35012Asn) c.100433G>A (p.Ser33478Asn) c.100430G>A (p.Ser33477Asn) c.97472G>A (p.Ser32491Asn) c.79088G>A (p.Ser26363Asn) c.100583G>A (p.Ser33528Asn) c.100580G>A (p.Ser33527Asn) c.100013G>A (p.Ser33338Asn) c.97355G>A (p.Ser32452Asn) c.97274G>A (p.Ser32425Asn) c.79037G>A (p.Ser26346Asn) c.68891G>A (p.Ser22964Asn) | dbSNP gnomAD v4 |
2 | g.178530474T>A | CA349406943 | TTN,TTN-AS1 | c.98437A>T (p.Ser32813Cys) c.79522A>T (p.Ser26508Cys) c.79321A>T (p.Ser26441Cys) c.78946A>T (p.Ser26316Cys) c.106141A>T (p.Ser35381Cys) c.101218A>T (p.Ser33740Cys) n.446+6838T>A n.220-5258T>A c.105238A>T (p.Ser35080Cys) c.79132A>T (p.Ser26378Cys) c.78991A>T (p.Ser26331Cys) c.105034A>T (p.Ser35012Cys) c.100432A>T (p.Ser33478Cys) c.100429A>T (p.Ser33477Cys) c.97471A>T (p.Ser32491Cys) c.79087A>T (p.Ser26363Cys) c.100582A>T (p.Ser33528Cys) c.100579A>T (p.Ser33527Cys) c.100012A>T (p.Ser33338Cys) c.97354A>T (p.Ser32452Cys) c.97273A>T (p.Ser32425Cys) c.79036A>T (p.Ser26346Cys) c.68890A>T (p.Ser22964Cys) | |
2 | g.178530474T>C | CA349406944 | TTN,TTN-AS1 | c.98437A>G (p.Ser32813Gly) c.79522A>G (p.Ser26508Gly) c.79321A>G (p.Ser26441Gly) c.78946A>G (p.Ser26316Gly) c.106141A>G (p.Ser35381Gly) c.101218A>G (p.Ser33740Gly) n.446+6838T>C n.220-5258T>C c.105238A>G (p.Ser35080Gly) c.79132A>G (p.Ser26378Gly) c.78991A>G (p.Ser26331Gly) c.105034A>G (p.Ser35012Gly) c.100432A>G (p.Ser33478Gly) c.100429A>G (p.Ser33477Gly) c.97471A>G (p.Ser32491Gly) c.79087A>G (p.Ser26363Gly) c.100582A>G (p.Ser33528Gly) c.100579A>G (p.Ser33527Gly) c.100012A>G (p.Ser33338Gly) c.97354A>G (p.Ser32452Gly) c.97273A>G (p.Ser32425Gly) c.79036A>G (p.Ser26346Gly) c.68890A>G (p.Ser22964Gly) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.178530474T>G | CA349406945 | TTN,TTN-AS1 | c.98437A>C (p.Ser32813Arg) c.79522A>C (p.Ser26508Arg) c.79321A>C (p.Ser26441Arg) c.78946A>C (p.Ser26316Arg) c.106141A>C (p.Ser35381Arg) c.101218A>C (p.Ser33740Arg) n.446+6838T>G n.220-5258T>G c.105238A>C (p.Ser35080Arg) c.79132A>C (p.Ser26378Arg) c.78991A>C (p.Ser26331Arg) c.105034A>C (p.Ser35012Arg) c.100432A>C (p.Ser33478Arg) c.100429A>C (p.Ser33477Arg) c.97471A>C (p.Ser32491Arg) c.79087A>C (p.Ser26363Arg) c.100582A>C (p.Ser33528Arg) c.100579A>C (p.Ser33527Arg) c.100012A>C (p.Ser33338Arg) c.97354A>C (p.Ser32452Arg) c.97273A>C (p.Ser32425Arg) c.79036A>C (p.Ser26346Arg) c.68890A>C (p.Ser22964Arg) | |
2 | g.178530474T= | CA1310514661 | TTN,TTN-AS1 | c.98437A= (p.Ser32813=) c.79522A= (p.Ser26508=) c.79321A= (p.Ser26441=) c.78946A= (p.Ser26316=) c.106141A= (p.Ser35381=) c.101218A= (p.Ser33740=) n.446+6838T= n.220-5258T= c.105238A= (p.Ser35080=) c.79132A= (p.Ser26378=) c.78991A= (p.Ser26331=) c.105034A= (p.Ser35012=) c.100432A= (p.Ser33478=) c.100429A= (p.Ser33477=) c.97471A= (p.Ser32491=) c.79087A= (p.Ser26363=) c.100582A= (p.Ser33528=) c.100579A= (p.Ser33527=) c.100012A= (p.Ser33338=) c.97354A= (p.Ser32452=) c.97273A= (p.Ser32425=) c.79036A= (p.Ser26346=) c.68890A= (p.Ser22964=) | |
2 | g.178530475C>A | CA349406946 | TTN,TTN-AS1 | c.98436G>T (p.Lys32812Asn) c.79521G>T (p.Lys26507Asn) c.79320G>T (p.Lys26440Asn) c.78945G>T (p.Lys26315Asn) c.106140G>T (p.Lys35380Asn) c.101217G>T (p.Lys33739Asn) n.446+6839C>A n.220-5257C>A c.105237G>T (p.Lys35079Asn) c.79131G>T (p.Lys26377Asn) c.78990G>T (p.Lys26330Asn) c.105033G>T (p.Lys35011Asn) c.100431G>T (p.Lys33477Asn) c.100428G>T (p.Lys33476Asn) c.97470G>T (p.Lys32490Asn) c.79086G>T (p.Lys26362Asn) c.100581G>T (p.Lys33527Asn) c.100578G>T (p.Lys33526Asn) c.100011G>T (p.Lys33337Asn) c.97353G>T (p.Lys32451Asn) c.97272G>T (p.Lys32424Asn) c.79035G>T (p.Lys26345Asn) c.68889G>T (p.Lys22963Asn) | |
2 | g.178530475C>G | CA349406947 | TTN,TTN-AS1 | c.98436G>C (p.Lys32812Asn) c.79521G>C (p.Lys26507Asn) c.79320G>C (p.Lys26440Asn) c.78945G>C (p.Lys26315Asn) c.106140G>C (p.Lys35380Asn) c.101217G>C (p.Lys33739Asn) n.446+6839C>G n.220-5257C>G c.105237G>C (p.Lys35079Asn) c.79131G>C (p.Lys26377Asn) c.78990G>C (p.Lys26330Asn) c.105033G>C (p.Lys35011Asn) c.100431G>C (p.Lys33477Asn) c.100428G>C (p.Lys33476Asn) c.97470G>C (p.Lys32490Asn) c.79086G>C (p.Lys26362Asn) c.100581G>C (p.Lys33527Asn) c.100578G>C (p.Lys33526Asn) c.100011G>C (p.Lys33337Asn) c.97353G>C (p.Lys32451Asn) c.97272G>C (p.Lys32424Asn) c.79035G>C (p.Lys26345Asn) c.68889G>C (p.Lys22963Asn) | |
2 | g.178530475C>T | CA430235052 | TTN,TTN-AS1 | c.98436G>A (p.Lys32812=) c.79521G>A (p.Lys26507=) c.79320G>A (p.Lys26440=) c.78945G>A (p.Lys26315=) c.106140G>A (p.Lys35380=) c.101217G>A (p.Lys33739=) n.446+6839C>T n.220-5257C>T c.105237G>A (p.Lys35079=) c.79131G>A (p.Lys26377=) c.78990G>A (p.Lys26330=) c.105033G>A (p.Lys35011=) c.100431G>A (p.Lys33477=) c.100428G>A (p.Lys33476=) c.97470G>A (p.Lys32490=) c.79086G>A (p.Lys26362=) c.100581G>A (p.Lys33527=) c.100578G>A (p.Lys33526=) c.100011G>A (p.Lys33337=) c.97353G>A (p.Lys32451=) c.97272G>A (p.Lys32424=) c.79035G>A (p.Lys26345=) c.68889G>A (p.Lys22963=) | gnomAD v4 |
2 | g.178530476T>A | CA349406948 | TTN,TTN-AS1 | c.98435A>T (p.Lys32812Met) c.79520A>T (p.Lys26507Met) c.79319A>T (p.Lys26440Met) c.78944A>T (p.Lys26315Met) c.106139A>T (p.Lys35380Met) c.101216A>T (p.Lys33739Met) n.446+6840T>A n.220-5256T>A c.105236A>T (p.Lys35079Met) c.79130A>T (p.Lys26377Met) c.78989A>T (p.Lys26330Met) c.105032A>T (p.Lys35011Met) c.100430A>T (p.Lys33477Met) c.100427A>T (p.Lys33476Met) c.97469A>T (p.Lys32490Met) c.79085A>T (p.Lys26362Met) c.100580A>T (p.Lys33527Met) c.100577A>T (p.Lys33526Met) c.100010A>T (p.Lys33337Met) c.97352A>T (p.Lys32451Met) c.97271A>T (p.Lys32424Met) c.79034A>T (p.Lys26345Met) c.68888A>T (p.Lys22963Met) | |
2 | g.178530476T>C | CA349406949 | TTN,TTN-AS1 | c.98435A>G (p.Lys32812Arg) c.79520A>G (p.Lys26507Arg) c.79319A>G (p.Lys26440Arg) c.78944A>G (p.Lys26315Arg) c.106139A>G (p.Lys35380Arg) c.101216A>G (p.Lys33739Arg) n.446+6840T>C n.220-5256T>C c.105236A>G (p.Lys35079Arg) c.79130A>G (p.Lys26377Arg) c.78989A>G (p.Lys26330Arg) c.105032A>G (p.Lys35011Arg) c.100430A>G (p.Lys33477Arg) c.100427A>G (p.Lys33476Arg) c.97469A>G (p.Lys32490Arg) c.79085A>G (p.Lys26362Arg) c.100580A>G (p.Lys33527Arg) c.100577A>G (p.Lys33526Arg) c.100010A>G (p.Lys33337Arg) c.97352A>G (p.Lys32451Arg) c.97271A>G (p.Lys32424Arg) c.79034A>G (p.Lys26345Arg) c.68888A>G (p.Lys22963Arg) | |
2 | g.178530476T>G | CA349406950 | TTN,TTN-AS1 | c.98435A>C (p.Lys32812Thr) c.79520A>C (p.Lys26507Thr) c.79319A>C (p.Lys26440Thr) c.78944A>C (p.Lys26315Thr) c.106139A>C (p.Lys35380Thr) c.101216A>C (p.Lys33739Thr) n.446+6840T>G n.220-5256T>G c.105236A>C (p.Lys35079Thr) c.79130A>C (p.Lys26377Thr) c.78989A>C (p.Lys26330Thr) c.105032A>C (p.Lys35011Thr) c.100430A>C (p.Lys33477Thr) c.100427A>C (p.Lys33476Thr) c.97469A>C (p.Lys32490Thr) c.79085A>C (p.Lys26362Thr) c.100580A>C (p.Lys33527Thr) c.100577A>C (p.Lys33526Thr) c.100010A>C (p.Lys33337Thr) c.97352A>C (p.Lys32451Thr) c.97271A>C (p.Lys32424Thr) c.79034A>C (p.Lys26345Thr) c.68888A>C (p.Lys22963Thr) | |
2 | g.178530476_178530478dup | CA2573134091 | TTN,TTN-AS1 | c.98433_98435dup (p.Phe32811_Lys32812insAsn) c.79518_79520dup (p.Phe26506_Lys26507insAsn) c.79317_79319dup (p.Phe26439_Lys26440insAsn) c.78942_78944dup (p.Phe26314_Lys26315insAsn) c.106137_106139dup (p.Phe35379_Lys35380insAsn) c.101214_101216dup (p.Phe33738_Lys33739insAsn) n.446+6840_446+6842dup n.220-5256_220-5254dup c.105234_105236dup (p.Phe35078_Lys35079insAsn) c.79128_79130dup (p.Phe26376_Lys26377insAsn) c.78987_78989dup (p.Phe26329_Lys26330insAsn) c.105030_105032dup (p.Phe35010_Lys35011insAsn) c.100428_100430dup (p.Phe33476_Lys33477insAsn) c.100425_100427dup (p.Phe33475_Lys33476insAsn) c.97467_97469dup (p.Phe32489_Lys32490insAsn) c.79083_79085dup (p.Phe26361_Lys26362insAsn) c.100578_100580dup (p.Phe33526_Lys33527insAsn) c.100575_100577dup (p.Phe33525_Lys33526insAsn) c.100008_100010dup (p.Phe33336_Lys33337insAsn) c.97350_97352dup (p.Phe32450_Lys32451insAsn) c.97269_97271dup (p.Phe32423_Lys32424insAsn) c.79032_79034dup (p.Phe26344_Lys26345insAsn) c.68886_68888dup (p.Phe22962_Lys22963insAsn) | ClinVar dbSNP |
2 | g.178530477T>A | CA349406951 | TTN,TTN-AS1 | c.98434A>T (p.Lys32812Ter) c.79519A>T (p.Lys26507Ter) c.79318A>T (p.Lys26440Ter) c.78943A>T (p.Lys26315Ter) c.106138A>T (p.Lys35380Ter) c.101215A>T (p.Lys33739Ter) n.446+6841T>A n.220-5255T>A c.105235A>T (p.Lys35079Ter) c.79129A>T (p.Lys26377Ter) c.78988A>T (p.Lys26330Ter) c.105031A>T (p.Lys35011Ter) c.100429A>T (p.Lys33477Ter) c.100426A>T (p.Lys33476Ter) c.97468A>T (p.Lys32490Ter) c.79084A>T (p.Lys26362Ter) c.100579A>T (p.Lys33527Ter) c.100576A>T (p.Lys33526Ter) c.100009A>T (p.Lys33337Ter) c.97351A>T (p.Lys32451Ter) c.97270A>T (p.Lys32424Ter) c.79033A>T (p.Lys26345Ter) c.68887A>T (p.Lys22963Ter) | |
2 | g.178530477T>C | CA349406952 | TTN,TTN-AS1 | c.98434A>G (p.Lys32812Glu) c.79519A>G (p.Lys26507Glu) c.79318A>G (p.Lys26440Glu) c.78943A>G (p.Lys26315Glu) c.106138A>G (p.Lys35380Glu) c.101215A>G (p.Lys33739Glu) n.446+6841T>C n.220-5255T>C c.105235A>G (p.Lys35079Glu) c.79129A>G (p.Lys26377Glu) c.78988A>G (p.Lys26330Glu) c.105031A>G (p.Lys35011Glu) c.100429A>G (p.Lys33477Glu) c.100426A>G (p.Lys33476Glu) c.97468A>G (p.Lys32490Glu) c.79084A>G (p.Lys26362Glu) c.100579A>G (p.Lys33527Glu) c.100576A>G (p.Lys33526Glu) c.100009A>G (p.Lys33337Glu) c.97351A>G (p.Lys32451Glu) c.97270A>G (p.Lys32424Glu) c.79033A>G (p.Lys26345Glu) c.68887A>G (p.Lys22963Glu) | |
2 | g.178530477T>G | CA349406953 | TTN,TTN-AS1 | c.98434A>C (p.Lys32812Gln) c.79519A>C (p.Lys26507Gln) c.79318A>C (p.Lys26440Gln) c.78943A>C (p.Lys26315Gln) c.106138A>C (p.Lys35380Gln) c.101215A>C (p.Lys33739Gln) n.446+6841T>G n.220-5255T>G c.105235A>C (p.Lys35079Gln) c.79129A>C (p.Lys26377Gln) c.78988A>C (p.Lys26330Gln) c.105031A>C (p.Lys35011Gln) c.100429A>C (p.Lys33477Gln) c.100426A>C (p.Lys33476Gln) c.97468A>C (p.Lys32490Gln) c.79084A>C (p.Lys26362Gln) c.100579A>C (p.Lys33527Gln) c.100576A>C (p.Lys33526Gln) c.100009A>C (p.Lys33337Gln) c.97351A>C (p.Lys32451Gln) c.97270A>C (p.Lys32424Gln) c.79033A>C (p.Lys26345Gln) c.68887A>C (p.Lys22963Gln) | |
2 | g.178530477T= | CA1310514663 | TTN,TTN-AS1 | c.98434A= (p.Lys32812=) c.79519A= (p.Lys26507=) c.79318A= (p.Lys26440=) c.78943A= (p.Lys26315=) c.106138A= (p.Lys35380=) c.101215A= (p.Lys33739=) n.446+6841T= n.220-5255T= c.105235A= (p.Lys35079=) c.79129A= (p.Lys26377=) c.78988A= (p.Lys26330=) c.105031A= (p.Lys35011=) c.100429A= (p.Lys33477=) c.100426A= (p.Lys33476=) c.97468A= (p.Lys32490=) c.79084A= (p.Lys26362=) c.100579A= (p.Lys33527=) c.100576A= (p.Lys33526=) c.100009A= (p.Lys33337=) c.97351A= (p.Lys32451=) c.97270A= (p.Lys32424=) c.79033A= (p.Lys26345=) c.68887A= (p.Lys22963=) | |
2 | g.178530478A>C | CA349406954 | TTN,TTN-AS1 | c.98433T>G (p.Phe32811Leu) c.79518T>G (p.Phe26506Leu) c.79317T>G (p.Phe26439Leu) c.78942T>G (p.Phe26314Leu) c.106137T>G (p.Phe35379Leu) c.101214T>G (p.Phe33738Leu) n.446+6842A>C n.220-5254A>C c.105234T>G (p.Phe35078Leu) c.79128T>G (p.Phe26376Leu) c.78987T>G (p.Phe26329Leu) c.105030T>G (p.Phe35010Leu) c.100428T>G (p.Phe33476Leu) c.100425T>G (p.Phe33475Leu) c.97467T>G (p.Phe32489Leu) c.79083T>G (p.Phe26361Leu) c.100578T>G (p.Phe33526Leu) c.100575T>G (p.Phe33525Leu) c.100008T>G (p.Phe33336Leu) c.97350T>G (p.Phe32450Leu) c.97269T>G (p.Phe32423Leu) c.79032T>G (p.Phe26344Leu) c.68886T>G (p.Phe22962Leu) | |
2 | g.178530478A>G | CA430235058 | TTN,TTN-AS1 | c.98433T>C (p.Phe32811=) c.79518T>C (p.Phe26506=) c.79317T>C (p.Phe26439=) c.78942T>C (p.Phe26314=) c.106137T>C (p.Phe35379=) c.101214T>C (p.Phe33738=) n.446+6842A>G n.220-5254A>G c.105234T>C (p.Phe35078=) c.79128T>C (p.Phe26376=) c.78987T>C (p.Phe26329=) c.105030T>C (p.Phe35010=) c.100428T>C (p.Phe33476=) c.100425T>C (p.Phe33475=) c.97467T>C (p.Phe32489=) c.79083T>C (p.Phe26361=) c.100578T>C (p.Phe33526=) c.100575T>C (p.Phe33525=) c.100008T>C (p.Phe33336=) c.97350T>C (p.Phe32450=) c.97269T>C (p.Phe32423=) c.79032T>C (p.Phe26344=) c.68886T>C (p.Phe22962=) | |
2 | g.178530478A>T | CA349406955 | TTN,TTN-AS1 | c.98433T>A (p.Phe32811Leu) c.79518T>A (p.Phe26506Leu) c.79317T>A (p.Phe26439Leu) c.78942T>A (p.Phe26314Leu) c.106137T>A (p.Phe35379Leu) c.101214T>A (p.Phe33738Leu) n.446+6842A>T n.220-5254A>T c.105234T>A (p.Phe35078Leu) c.79128T>A (p.Phe26376Leu) c.78987T>A (p.Phe26329Leu) c.105030T>A (p.Phe35010Leu) c.100428T>A (p.Phe33476Leu) c.100425T>A (p.Phe33475Leu) c.97467T>A (p.Phe32489Leu) c.79083T>A (p.Phe26361Leu) c.100578T>A (p.Phe33526Leu) c.100575T>A (p.Phe33525Leu) c.100008T>A (p.Phe33336Leu) c.97350T>A (p.Phe32450Leu) c.97269T>A (p.Phe32423Leu) c.79032T>A (p.Phe26344Leu) c.68886T>A (p.Phe22962Leu) | |
2 | g.178530480dup | CA10606783 | TTN,TTN-AS1 | c.98433dup (p.Lys32812Ter) c.79518dup (p.Lys26507Ter) c.79317dup (p.Lys26440Ter) c.78942dup (p.Lys26315Ter) c.106137dup (p.Lys35380Ter) c.101214dup (p.Lys33739Ter) n.446+6844dup n.220-5252dup c.105234dup (p.Lys35079Ter) c.79128dup (p.Lys26377Ter) c.78987dup (p.Lys26330Ter) c.105030dup (p.Lys35011Ter) c.100428dup (p.Lys33477Ter) c.100425dup (p.Lys33476Ter) c.97467dup (p.Lys32490Ter) c.79083dup (p.Lys26362Ter) c.100578dup (p.Lys33527Ter) c.100575dup (p.Lys33526Ter) c.100008dup (p.Lys33337Ter) c.97350dup (p.Lys32451Ter) c.97269dup (p.Lys32424Ter) c.79032dup (p.Lys26345Ter) c.68886dup (p.Lys22963Ter) | ClinVar dbSNP |
2 | g.178530479A>C | CA349406956 | TTN,TTN-AS1 | c.98432T>G (p.Phe32811Cys) c.79517T>G (p.Phe26506Cys) c.79316T>G (p.Phe26439Cys) c.78941T>G (p.Phe26314Cys) c.106136T>G (p.Phe35379Cys) c.101213T>G (p.Phe33738Cys) n.446+6843A>C n.220-5253A>C c.105233T>G (p.Phe35078Cys) c.79127T>G (p.Phe26376Cys) c.78986T>G (p.Phe26329Cys) c.105029T>G (p.Phe35010Cys) c.100427T>G (p.Phe33476Cys) c.100424T>G (p.Phe33475Cys) c.97466T>G (p.Phe32489Cys) c.79082T>G (p.Phe26361Cys) c.100577T>G (p.Phe33526Cys) c.100574T>G (p.Phe33525Cys) c.100007T>G (p.Phe33336Cys) c.97349T>G (p.Phe32450Cys) c.97268T>G (p.Phe32423Cys) c.79031T>G (p.Phe26344Cys) c.68885T>G (p.Phe22962Cys) | |
2 | g.178530479A>G | CA349406957 | TTN,TTN-AS1 | c.98432T>C (p.Phe32811Ser) c.79517T>C (p.Phe26506Ser) c.79316T>C (p.Phe26439Ser) c.78941T>C (p.Phe26314Ser) c.106136T>C (p.Phe35379Ser) c.101213T>C (p.Phe33738Ser) n.446+6843A>G n.220-5253A>G c.105233T>C (p.Phe35078Ser) c.79127T>C (p.Phe26376Ser) c.78986T>C (p.Phe26329Ser) c.105029T>C (p.Phe35010Ser) c.100427T>C (p.Phe33476Ser) c.100424T>C (p.Phe33475Ser) c.97466T>C (p.Phe32489Ser) c.79082T>C (p.Phe26361Ser) c.100577T>C (p.Phe33526Ser) c.100574T>C (p.Phe33525Ser) c.100007T>C (p.Phe33336Ser) c.97349T>C (p.Phe32450Ser) c.97268T>C (p.Phe32423Ser) c.79031T>C (p.Phe26344Ser) c.68885T>C (p.Phe22962Ser) | |
2 | g.178530479A>T | CA349406958 | TTN,TTN-AS1 | c.98432T>A (p.Phe32811Tyr) c.79517T>A (p.Phe26506Tyr) c.79316T>A (p.Phe26439Tyr) c.78941T>A (p.Phe26314Tyr) c.106136T>A (p.Phe35379Tyr) c.101213T>A (p.Phe33738Tyr) n.446+6843A>T n.220-5253A>T c.105233T>A (p.Phe35078Tyr) c.79127T>A (p.Phe26376Tyr) c.78986T>A (p.Phe26329Tyr) c.105029T>A (p.Phe35010Tyr) c.100427T>A (p.Phe33476Tyr) c.100424T>A (p.Phe33475Tyr) c.97466T>A (p.Phe32489Tyr) c.79082T>A (p.Phe26361Tyr) c.100577T>A (p.Phe33526Tyr) c.100574T>A (p.Phe33525Tyr) c.100007T>A (p.Phe33336Tyr) c.97349T>A (p.Phe32450Tyr) c.97268T>A (p.Phe32423Tyr) c.79031T>A (p.Phe26344Tyr) c.68885T>A (p.Phe22962Tyr) | |
2 | g.178530480A>C | CA349406960 | TTN,TTN-AS1 | c.98431T>G (p.Phe32811Val) c.79516T>G (p.Phe26506Val) c.79315T>G (p.Phe26439Val) c.78940T>G (p.Phe26314Val) c.106135T>G (p.Phe35379Val) c.101212T>G (p.Phe33738Val) n.446+6844A>C n.220-5252A>C c.105232T>G (p.Phe35078Val) c.79126T>G (p.Phe26376Val) c.78985T>G (p.Phe26329Val) c.105028T>G (p.Phe35010Val) c.100426T>G (p.Phe33476Val) c.100423T>G (p.Phe33475Val) c.97465T>G (p.Phe32489Val) c.79081T>G (p.Phe26361Val) c.100576T>G (p.Phe33526Val) c.100573T>G (p.Phe33525Val) c.100006T>G (p.Phe33336Val) c.97348T>G (p.Phe32450Val) c.97267T>G (p.Phe32423Val) c.79030T>G (p.Phe26344Val) c.68884T>G (p.Phe22962Val) | |
2 | g.178530480A>G | CA349406961 | TTN,TTN-AS1 | c.98431T>C (p.Phe32811Leu) c.79516T>C (p.Phe26506Leu) c.79315T>C (p.Phe26439Leu) c.78940T>C (p.Phe26314Leu) c.106135T>C (p.Phe35379Leu) c.101212T>C (p.Phe33738Leu) n.446+6844A>G n.220-5252A>G c.105232T>C (p.Phe35078Leu) c.79126T>C (p.Phe26376Leu) c.78985T>C (p.Phe26329Leu) c.105028T>C (p.Phe35010Leu) c.100426T>C (p.Phe33476Leu) c.100423T>C (p.Phe33475Leu) c.97465T>C (p.Phe32489Leu) c.79081T>C (p.Phe26361Leu) c.100576T>C (p.Phe33526Leu) c.100573T>C (p.Phe33525Leu) c.100006T>C (p.Phe33336Leu) c.97348T>C (p.Phe32450Leu) c.97267T>C (p.Phe32423Leu) c.79030T>C (p.Phe26344Leu) c.68884T>C (p.Phe22962Leu) | |
2 | g.178530480A>T | CA349406959 | TTN,TTN-AS1 | c.98431T>A (p.Phe32811Ile) c.79516T>A (p.Phe26506Ile) c.79315T>A (p.Phe26439Ile) c.78940T>A (p.Phe26314Ile) c.106135T>A (p.Phe35379Ile) c.101212T>A (p.Phe33738Ile) n.446+6844A>T n.220-5252A>T c.105232T>A (p.Phe35078Ile) c.79126T>A (p.Phe26376Ile) c.78985T>A (p.Phe26329Ile) c.105028T>A (p.Phe35010Ile) c.100426T>A (p.Phe33476Ile) c.100423T>A (p.Phe33475Ile) c.97465T>A (p.Phe32489Ile) c.79081T>A (p.Phe26361Ile) c.100576T>A (p.Phe33526Ile) c.100573T>A (p.Phe33525Ile) c.100006T>A (p.Phe33336Ile) c.97348T>A (p.Phe32450Ile) c.97267T>A (p.Phe32423Ile) c.79030T>A (p.Phe26344Ile) c.68884T>A (p.Phe22962Ile) | |
2 | g.178530481G>A | CA430235061 | TTN,TTN-AS1 | c.98430C>T (p.Ala32810=) c.79515C>T (p.Ala26505=) c.79314C>T (p.Ala26438=) c.78939C>T (p.Ala26313=) c.106134C>T (p.Ala35378=) c.101211C>T (p.Ala33737=) n.446+6845G>A n.220-5251G>A c.105231C>T (p.Ala35077=) c.79125C>T (p.Ala26375=) c.78984C>T (p.Ala26328=) c.105027C>T (p.Ala35009=) c.100425C>T (p.Ala33475=) c.100422C>T (p.Ala33474=) c.97464C>T (p.Ala32488=) c.79080C>T (p.Ala26360=) c.100575C>T (p.Ala33525=) c.100572C>T (p.Ala33524=) c.100005C>T (p.Ala33335=) c.97347C>T (p.Ala32449=) c.97266C>T (p.Ala32422=) c.79029C>T (p.Ala26343=) c.68883C>T (p.Ala22961=) | |
2 | g.178530481G>C | CA430235063 | TTN,TTN-AS1 | c.98430C>G (p.Ala32810=) c.79515C>G (p.Ala26505=) c.79314C>G (p.Ala26438=) c.78939C>G (p.Ala26313=) c.106134C>G (p.Ala35378=) c.101211C>G (p.Ala33737=) n.446+6845G>C n.220-5251G>C c.105231C>G (p.Ala35077=) c.79125C>G (p.Ala26375=) c.78984C>G (p.Ala26328=) c.105027C>G (p.Ala35009=) c.100425C>G (p.Ala33475=) c.100422C>G (p.Ala33474=) c.97464C>G (p.Ala32488=) c.79080C>G (p.Ala26360=) c.100575C>G (p.Ala33525=) c.100572C>G (p.Ala33524=) c.100005C>G (p.Ala33335=) c.97347C>G (p.Ala32449=) c.97266C>G (p.Ala32422=) c.79029C>G (p.Ala26343=) c.68883C>G (p.Ala22961=) | |
2 | g.178530481G= | CA1310514666 | TTN,TTN-AS1 | c.98430C= (p.Ala32810=) c.79515C= (p.Ala26505=) c.79314C= (p.Ala26438=) c.78939C= (p.Ala26313=) c.106134C= (p.Ala35378=) c.101211C= (p.Ala33737=) n.446+6845G= n.220-5251G= c.105231C= (p.Ala35077=) c.79125C= (p.Ala26375=) c.78984C= (p.Ala26328=) c.105027C= (p.Ala35009=) c.100425C= (p.Ala33475=) c.100422C= (p.Ala33474=) c.97464C= (p.Ala32488=) c.79080C= (p.Ala26360=) c.100575C= (p.Ala33525=) c.100572C= (p.Ala33524=) c.100005C= (p.Ala33335=) c.97347C= (p.Ala32449=) c.97266C= (p.Ala32422=) c.79029C= (p.Ala26343=) c.68883C= (p.Ala22961=) | |
2 | g.178530481G>T | CA1985158 | TTN,TTN-AS1 | c.98430C>A (p.Ala32810=) c.79515C>A (p.Ala26505=) c.79314C>A (p.Ala26438=) c.78939C>A (p.Ala26313=) c.106134C>A (p.Ala35378=) c.101211C>A (p.Ala33737=) n.446+6845G>T n.220-5251G>T c.105231C>A (p.Ala35077=) c.79125C>A (p.Ala26375=) c.78984C>A (p.Ala26328=) c.105027C>A (p.Ala35009=) c.100425C>A (p.Ala33475=) c.100422C>A (p.Ala33474=) c.97464C>A (p.Ala32488=) c.79080C>A (p.Ala26360=) c.100575C>A (p.Ala33525=) c.100572C>A (p.Ala33524=) c.100005C>A (p.Ala33335=) c.97347C>A (p.Ala32449=) c.97266C>A (p.Ala32422=) c.79029C>A (p.Ala26343=) c.68883C>A (p.Ala22961=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178530482G>A | CA1985159 | TTN,TTN-AS1 | c.98429C>T (p.Ala32810Val) c.79514C>T (p.Ala26505Val) c.79313C>T (p.Ala26438Val) c.78938C>T (p.Ala26313Val) c.106133C>T (p.Ala35378Val) c.101210C>T (p.Ala33737Val) n.446+6846G>A n.220-5250G>A c.105230C>T (p.Ala35077Val) c.79124C>T (p.Ala26375Val) c.78983C>T (p.Ala26328Val) c.105026C>T (p.Ala35009Val) c.100424C>T (p.Ala33475Val) c.100421C>T (p.Ala33474Val) c.97463C>T (p.Ala32488Val) c.79079C>T (p.Ala26360Val) c.100574C>T (p.Ala33525Val) c.100571C>T (p.Ala33524Val) c.100004C>T (p.Ala33335Val) c.97346C>T (p.Ala32449Val) c.97265C>T (p.Ala32422Val) c.79028C>T (p.Ala26343Val) c.68882C>T (p.Ala22961Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178530482G>C | CA311252 | TTN,TTN-AS1 | c.98429C>G (p.Ala32810Gly) c.79514C>G (p.Ala26505Gly) c.79313C>G (p.Ala26438Gly) c.78938C>G (p.Ala26313Gly) c.106133C>G (p.Ala35378Gly) c.101210C>G (p.Ala33737Gly) n.446+6846G>C n.220-5250G>C c.105230C>G (p.Ala35077Gly) c.79124C>G (p.Ala26375Gly) c.78983C>G (p.Ala26328Gly) c.105026C>G (p.Ala35009Gly) c.100424C>G (p.Ala33475Gly) c.100421C>G (p.Ala33474Gly) c.97463C>G (p.Ala32488Gly) c.79079C>G (p.Ala26360Gly) c.100574C>G (p.Ala33525Gly) c.100571C>G (p.Ala33524Gly) c.100004C>G (p.Ala33335Gly) c.97346C>G (p.Ala32449Gly) c.97265C>G (p.Ala32422Gly) c.79028C>G (p.Ala26343Gly) c.68882C>G (p.Ala22961Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
2 | g.178530482G= | CA1310514670 | TTN,TTN-AS1 | c.98429C= (p.Ala32810=) c.79514C= (p.Ala26505=) c.79313C= (p.Ala26438=) c.78938C= (p.Ala26313=) c.106133C= (p.Ala35378=) c.101210C= (p.Ala33737=) n.446+6846G= n.220-5250G= c.105230C= (p.Ala35077=) c.79124C= (p.Ala26375=) c.78983C= (p.Ala26328=) c.105026C= (p.Ala35009=) c.100424C= (p.Ala33475=) c.100421C= (p.Ala33474=) c.97463C= (p.Ala32488=) c.79079C= (p.Ala26360=) c.100574C= (p.Ala33525=) c.100571C= (p.Ala33524=) c.100004C= (p.Ala33335=) c.97346C= (p.Ala32449=) c.97265C= (p.Ala32422=) c.79028C= (p.Ala26343=) c.68882C= (p.Ala22961=) | |
2 | g.178530482G>T | CA349406962 | TTN,TTN-AS1 | c.98429C>A (p.Ala32810Asp) c.79514C>A (p.Ala26505Asp) c.79313C>A (p.Ala26438Asp) c.78938C>A (p.Ala26313Asp) c.106133C>A (p.Ala35378Asp) c.101210C>A (p.Ala33737Asp) n.446+6846G>T n.220-5250G>T c.105230C>A (p.Ala35077Asp) c.79124C>A (p.Ala26375Asp) c.78983C>A (p.Ala26328Asp) c.105026C>A (p.Ala35009Asp) c.100424C>A (p.Ala33475Asp) c.100421C>A (p.Ala33474Asp) c.97463C>A (p.Ala32488Asp) c.79079C>A (p.Ala26360Asp) c.100574C>A (p.Ala33525Asp) c.100571C>A (p.Ala33524Asp) c.100004C>A (p.Ala33335Asp) c.97346C>A (p.Ala32449Asp) c.97265C>A (p.Ala32422Asp) c.79028C>A (p.Ala26343Asp) c.68882C>A (p.Ala22961Asp) | gnomAD v4 |
2 | g.178530482_178530483insTCTCTTT | CA538434967 | TTN,TTN-AS1 | c.98428_98429insAAAGAGA (p.Ala32810GlufsTer5) c.79513_79514insAAAGAGA (p.Ala26505GlufsTer5) c.79312_79313insAAAGAGA (p.Ala26438GlufsTer5) c.78937_78938insAAAGAGA (p.Ala26313GlufsTer5) c.106132_106133insAAAGAGA (p.Ala35378GlufsTer5) c.101209_101210insAAAGAGA (p.Ala33737GlufsTer5) n.446+6846_446+6847insTCTCTTT n.220-5250_220-5249insTCTCTTT c.105229_105230insAAAGAGA (p.Ala35077GlufsTer5) c.79123_79124insAAAGAGA (p.Ala26375GlufsTer5) c.78982_78983insAAAGAGA (p.Ala26328GlufsTer5) c.105025_105026insAAAGAGA (p.Ala35009GlufsTer5) c.100423_100424insAAAGAGA (p.Ala33475GlufsTer5) c.100420_100421insAAAGAGA (p.Ala33474GlufsTer5) c.97462_97463insAAAGAGA (p.Ala32488GlufsTer5) c.79078_79079insAAAGAGA (p.Ala26360GlufsTer5) c.100573_100574insAAAGAGA (p.Ala33525GlufsTer5) c.100570_100571insAAAGAGA (p.Ala33524GlufsTer5) c.100003_100004insAAAGAGA (p.Ala33335GlufsTer5) c.97345_97346insAAAGAGA (p.Ala32449GlufsTer5) c.97264_97265insAAAGAGA (p.Ala32422GlufsTer5) c.79027_79028insAAAGAGA (p.Ala26343GlufsTer5) c.68881_68882insAAAGAGA (p.Ala22961GlufsTer5) | gnomAD v2 |
2 | g.178530483C>A | CA349406963 | TTN,TTN-AS1 | c.98428G>T (p.Ala32810Ser) c.79513G>T (p.Ala26505Ser) c.79312G>T (p.Ala26438Ser) c.78937G>T (p.Ala26313Ser) c.106132G>T (p.Ala35378Ser) c.101209G>T (p.Ala33737Ser) n.446+6847C>A n.220-5249C>A c.105229G>T (p.Ala35077Ser) c.79123G>T (p.Ala26375Ser) c.78982G>T (p.Ala26328Ser) c.105025G>T (p.Ala35009Ser) c.100423G>T (p.Ala33475Ser) c.100420G>T (p.Ala33474Ser) c.97462G>T (p.Ala32488Ser) c.79078G>T (p.Ala26360Ser) c.100573G>T (p.Ala33525Ser) c.100570G>T (p.Ala33524Ser) c.100003G>T (p.Ala33335Ser) c.97345G>T (p.Ala32449Ser) c.97264G>T (p.Ala32422Ser) c.79027G>T (p.Ala26343Ser) c.68881G>T (p.Ala22961Ser) | |
2 | g.178530483C>G | CA349406964 | TTN,TTN-AS1 | c.98428G>C (p.Ala32810Pro) c.79513G>C (p.Ala26505Pro) c.79312G>C (p.Ala26438Pro) c.78937G>C (p.Ala26313Pro) c.106132G>C (p.Ala35378Pro) c.101209G>C (p.Ala33737Pro) n.446+6847C>G n.220-5249C>G c.105229G>C (p.Ala35077Pro) c.79123G>C (p.Ala26375Pro) c.78982G>C (p.Ala26328Pro) c.105025G>C (p.Ala35009Pro) c.100423G>C (p.Ala33475Pro) c.100420G>C (p.Ala33474Pro) c.97462G>C (p.Ala32488Pro) c.79078G>C (p.Ala26360Pro) c.100573G>C (p.Ala33525Pro) c.100570G>C (p.Ala33524Pro) c.100003G>C (p.Ala33335Pro) c.97345G>C (p.Ala32449Pro) c.97264G>C (p.Ala32422Pro) c.79027G>C (p.Ala26343Pro) c.68881G>C (p.Ala22961Pro) | |
2 | g.178530483C>T | CA349406965 | TTN,TTN-AS1 | c.98428G>A (p.Ala32810Thr) c.79513G>A (p.Ala26505Thr) c.79312G>A (p.Ala26438Thr) c.78937G>A (p.Ala26313Thr) c.106132G>A (p.Ala35378Thr) c.101209G>A (p.Ala33737Thr) n.446+6847C>T n.220-5249C>T c.105229G>A (p.Ala35077Thr) c.79123G>A (p.Ala26375Thr) c.78982G>A (p.Ala26328Thr) c.105025G>A (p.Ala35009Thr) c.100423G>A (p.Ala33475Thr) c.100420G>A (p.Ala33474Thr) c.97462G>A (p.Ala32488Thr) c.79078G>A (p.Ala26360Thr) c.100573G>A (p.Ala33525Thr) c.100570G>A (p.Ala33524Thr) c.100003G>A (p.Ala33335Thr) c.97345G>A (p.Ala32449Thr) c.97264G>A (p.Ala32422Thr) c.79027G>A (p.Ala26343Thr) c.68881G>A (p.Ala22961Thr) | gnomAD v4 |
2 | g.178530484T>A | CA349406966 | TTN,TTN-AS1 | c.98427A>T (p.Gln32809His) c.79512A>T (p.Gln26504His) c.79311A>T (p.Gln26437His) c.78936A>T (p.Gln26312His) c.106131A>T (p.Gln35377His) c.101208A>T (p.Gln33736His) n.446+6848T>A n.220-5248T>A c.105228A>T (p.Gln35076His) c.79122A>T (p.Gln26374His) c.78981A>T (p.Gln26327His) c.105024A>T (p.Gln35008His) c.100422A>T (p.Gln33474His) c.100419A>T (p.Gln33473His) c.97461A>T (p.Gln32487His) c.79077A>T (p.Gln26359His) c.100572A>T (p.Gln33524His) c.100569A>T (p.Gln33523His) c.100002A>T (p.Gln33334His) c.97344A>T (p.Gln32448His) c.97263A>T (p.Gln32421His) c.79026A>T (p.Gln26342His) c.68880A>T (p.Gln22960His) | dbSNP gnomAD v2 |
2 | g.178530484T>C | CA430235070 | TTN,TTN-AS1 | c.98427A>G (p.Gln32809=) c.79512A>G (p.Gln26504=) c.79311A>G (p.Gln26437=) c.78936A>G (p.Gln26312=) c.106131A>G (p.Gln35377=) c.101208A>G (p.Gln33736=) n.446+6848T>C n.220-5248T>C c.105228A>G (p.Gln35076=) c.79122A>G (p.Gln26374=) c.78981A>G (p.Gln26327=) c.105024A>G (p.Gln35008=) c.100422A>G (p.Gln33474=) c.100419A>G (p.Gln33473=) c.97461A>G (p.Gln32487=) c.79077A>G (p.Gln26359=) c.100572A>G (p.Gln33524=) c.100569A>G (p.Gln33523=) c.100002A>G (p.Gln33334=) c.97344A>G (p.Gln32448=) c.97263A>G (p.Gln32421=) c.79026A>G (p.Gln26342=) c.68880A>G (p.Gln22960=) | |
2 | g.178530484T>G | CA349406967 | TTN,TTN-AS1 | c.98427A>C (p.Gln32809His) c.79512A>C (p.Gln26504His) c.79311A>C (p.Gln26437His) c.78936A>C (p.Gln26312His) c.106131A>C (p.Gln35377His) c.101208A>C (p.Gln33736His) n.446+6848T>G n.220-5248T>G c.105228A>C (p.Gln35076His) c.79122A>C (p.Gln26374His) c.78981A>C (p.Gln26327His) c.105024A>C (p.Gln35008His) c.100422A>C (p.Gln33474His) c.100419A>C (p.Gln33473His) c.97461A>C (p.Gln32487His) c.79077A>C (p.Gln26359His) c.100572A>C (p.Gln33524His) c.100569A>C (p.Gln33523His) c.100002A>C (p.Gln33334His) c.97344A>C (p.Gln32448His) c.97263A>C (p.Gln32421His) c.79026A>C (p.Gln26342His) c.68880A>C (p.Gln22960His) | |
2 | g.178530484T= | CA1310514674 | TTN,TTN-AS1 | c.98427A= (p.Gln32809=) c.79512A= (p.Gln26504=) c.79311A= (p.Gln26437=) c.78936A= (p.Gln26312=) c.106131A= (p.Gln35377=) c.101208A= (p.Gln33736=) n.446+6848T= n.220-5248T= c.105228A= (p.Gln35076=) c.79122A= (p.Gln26374=) c.78981A= (p.Gln26327=) c.105024A= (p.Gln35008=) c.100422A= (p.Gln33474=) c.100419A= (p.Gln33473=) c.97461A= (p.Gln32487=) c.79077A= (p.Gln26359=) c.100572A= (p.Gln33524=) c.100569A= (p.Gln33523=) c.100002A= (p.Gln33334=) c.97344A= (p.Gln32448=) c.97263A= (p.Gln32421=) c.79026A= (p.Gln26342=) c.68880A= (p.Gln22960=) | |
2 | g.178530485T>A | CA349406968 | TTN,TTN-AS1 | c.98426A>T (p.Gln32809Leu) c.79511A>T (p.Gln26504Leu) c.79310A>T (p.Gln26437Leu) c.78935A>T (p.Gln26312Leu) c.106130A>T (p.Gln35377Leu) c.101207A>T (p.Gln33736Leu) n.446+6849T>A n.220-5247T>A c.105227A>T (p.Gln35076Leu) c.79121A>T (p.Gln26374Leu) c.78980A>T (p.Gln26327Leu) c.105023A>T (p.Gln35008Leu) c.100421A>T (p.Gln33474Leu) c.100418A>T (p.Gln33473Leu) c.97460A>T (p.Gln32487Leu) c.79076A>T (p.Gln26359Leu) c.100571A>T (p.Gln33524Leu) c.100568A>T (p.Gln33523Leu) c.100001A>T (p.Gln33334Leu) c.97343A>T (p.Gln32448Leu) c.97262A>T (p.Gln32421Leu) c.79025A>T (p.Gln26342Leu) c.68879A>T (p.Gln22960Leu) | |
2 | g.178530485T>C | CA349406969 | TTN,TTN-AS1 | c.98426A>G (p.Gln32809Arg) c.79511A>G (p.Gln26504Arg) c.79310A>G (p.Gln26437Arg) c.78935A>G (p.Gln26312Arg) c.106130A>G (p.Gln35377Arg) c.101207A>G (p.Gln33736Arg) n.446+6849T>C n.220-5247T>C c.105227A>G (p.Gln35076Arg) c.79121A>G (p.Gln26374Arg) c.78980A>G (p.Gln26327Arg) c.105023A>G (p.Gln35008Arg) c.100421A>G (p.Gln33474Arg) c.100418A>G (p.Gln33473Arg) c.97460A>G (p.Gln32487Arg) c.79076A>G (p.Gln26359Arg) c.100571A>G (p.Gln33524Arg) c.100568A>G (p.Gln33523Arg) c.100001A>G (p.Gln33334Arg) c.97343A>G (p.Gln32448Arg) c.97262A>G (p.Gln32421Arg) c.79025A>G (p.Gln26342Arg) c.68879A>G (p.Gln22960Arg) | |
2 | g.178530485T>G | CA349406970 | TTN,TTN-AS1 | c.98426A>C (p.Gln32809Pro) c.79511A>C (p.Gln26504Pro) c.79310A>C (p.Gln26437Pro) c.78935A>C (p.Gln26312Pro) c.106130A>C (p.Gln35377Pro) c.101207A>C (p.Gln33736Pro) n.446+6849T>G n.220-5247T>G c.105227A>C (p.Gln35076Pro) c.79121A>C (p.Gln26374Pro) c.78980A>C (p.Gln26327Pro) c.105023A>C (p.Gln35008Pro) c.100421A>C (p.Gln33474Pro) c.100418A>C (p.Gln33473Pro) c.97460A>C (p.Gln32487Pro) c.79076A>C (p.Gln26359Pro) c.100571A>C (p.Gln33524Pro) c.100568A>C (p.Gln33523Pro) c.100001A>C (p.Gln33334Pro) c.97343A>C (p.Gln32448Pro) c.97262A>C (p.Gln32421Pro) c.79025A>C (p.Gln26342Pro) c.68879A>C (p.Gln22960Pro) | |
2 | g.178530486G>A | CA349406971 | TTN,TTN-AS1 | c.98425C>T (p.Gln32809Ter) c.79510C>T (p.Gln26504Ter) c.79309C>T (p.Gln26437Ter) c.78934C>T (p.Gln26312Ter) c.106129C>T (p.Gln35377Ter) c.101206C>T (p.Gln33736Ter) n.446+6850G>A n.220-5246G>A c.105226C>T (p.Gln35076Ter) c.79120C>T (p.Gln26374Ter) c.78979C>T (p.Gln26327Ter) c.105022C>T (p.Gln35008Ter) c.100420C>T (p.Gln33474Ter) c.100417C>T (p.Gln33473Ter) c.97459C>T (p.Gln32487Ter) c.79075C>T (p.Gln26359Ter) c.100570C>T (p.Gln33524Ter) c.100567C>T (p.Gln33523Ter) c.100000C>T (p.Gln33334Ter) c.97342C>T (p.Gln32448Ter) c.97261C>T (p.Gln32421Ter) c.79024C>T (p.Gln26342Ter) c.68878C>T (p.Gln22960Ter) | |
2 | g.178530486G>C | CA349406972 | TTN,TTN-AS1 | c.98425C>G (p.Gln32809Glu) c.79510C>G (p.Gln26504Glu) c.79309C>G (p.Gln26437Glu) c.78934C>G (p.Gln26312Glu) c.106129C>G (p.Gln35377Glu) c.101206C>G (p.Gln33736Glu) n.446+6850G>C n.220-5246G>C c.105226C>G (p.Gln35076Glu) c.79120C>G (p.Gln26374Glu) c.78979C>G (p.Gln26327Glu) c.105022C>G (p.Gln35008Glu) c.100420C>G (p.Gln33474Glu) c.100417C>G (p.Gln33473Glu) c.97459C>G (p.Gln32487Glu) c.79075C>G (p.Gln26359Glu) c.100570C>G (p.Gln33524Glu) c.100567C>G (p.Gln33523Glu) c.100000C>G (p.Gln33334Glu) c.97342C>G (p.Gln32448Glu) c.97261C>G (p.Gln32421Glu) c.79024C>G (p.Gln26342Glu) c.68878C>G (p.Gln22960Glu) | |
2 | g.178530486G= | CA1310514676 | TTN,TTN-AS1 | c.98425C= (p.Gln32809=) c.79510C= (p.Gln26504=) c.79309C= (p.Gln26437=) c.78934C= (p.Gln26312=) c.106129C= (p.Gln35377=) c.101206C= (p.Gln33736=) n.446+6850G= n.220-5246G= c.105226C= (p.Gln35076=) c.79120C= (p.Gln26374=) c.78979C= (p.Gln26327=) c.105022C= (p.Gln35008=) c.100420C= (p.Gln33474=) c.100417C= (p.Gln33473=) c.97459C= (p.Gln32487=) c.79075C= (p.Gln26359=) c.100570C= (p.Gln33524=) c.100567C= (p.Gln33523=) c.100000C= (p.Gln33334=) c.97342C= (p.Gln32448=) c.97261C= (p.Gln32421=) c.79024C= (p.Gln26342=) c.68878C= (p.Gln22960=) | |
2 | g.178530486G>T | CA1985160 | TTN,TTN-AS1 | c.98425C>A (p.Gln32809Lys) c.79510C>A (p.Gln26504Lys) c.79309C>A (p.Gln26437Lys) c.78934C>A (p.Gln26312Lys) c.106129C>A (p.Gln35377Lys) c.101206C>A (p.Gln33736Lys) n.446+6850G>T n.220-5246G>T c.105226C>A (p.Gln35076Lys) c.79120C>A (p.Gln26374Lys) c.78979C>A (p.Gln26327Lys) c.105022C>A (p.Gln35008Lys) c.100420C>A (p.Gln33474Lys) c.100417C>A (p.Gln33473Lys) c.97459C>A (p.Gln32487Lys) c.79075C>A (p.Gln26359Lys) c.100570C>A (p.Gln33524Lys) c.100567C>A (p.Gln33523Lys) c.100000C>A (p.Gln33334Lys) c.97342C>A (p.Gln32448Lys) c.97261C>A (p.Gln32421Lys) c.79024C>A (p.Gln26342Lys) c.68878C>A (p.Gln22960Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.178530487C>A | CA1985161 | TTN,TTN-AS1 | c.98424G>T (p.Gly32808=) c.79509G>T (p.Gly26503=) c.79308G>T (p.Gly26436=) c.78933G>T (p.Gly26311=) c.106128G>T (p.Gly35376=) c.101205G>T (p.Gly33735=) n.446+6851C>A n.220-5245C>A c.105225G>T (p.Gly35075=) c.79119G>T (p.Gly26373=) c.78978G>T (p.Gly26326=) c.105021G>T (p.Gly35007=) c.100419G>T (p.Gly33473=) c.100416G>T (p.Gly33472=) c.97458G>T (p.Gly32486=) c.79074G>T (p.Gly26358=) c.100569G>T (p.Gly33523=) c.100566G>T (p.Gly33522=) c.99999G>T (p.Gly33333=) c.97341G>T (p.Gly32447=) c.97260G>T (p.Gly32420=) c.79023G>T (p.Gly26341=) c.68877G>T (p.Gly22959=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.178530487C= | CA1310514678 | TTN,TTN-AS1 | c.98424G= (p.Gly32808=) c.79509G= (p.Gly26503=) c.79308G= (p.Gly26436=) c.78933G= (p.Gly26311=) c.106128G= (p.Gly35376=) c.101205G= (p.Gly33735=) n.446+6851C= n.220-5245C= c.105225G= (p.Gly35075=) c.79119G= (p.Gly26373=) c.78978G= (p.Gly26326=) c.105021G= (p.Gly35007=) c.100419G= (p.Gly33473=) c.100416G= (p.Gly33472=) c.97458G= (p.Gly32486=) c.79074G= (p.Gly26358=) c.100569G= (p.Gly33523=) c.100566G= (p.Gly33522=) c.99999G= (p.Gly33333=) c.97341G= (p.Gly32447=) c.97260G= (p.Gly32420=) c.79023G= (p.Gly26341=) c.68877G= (p.Gly22959=) | |
2 | g.178530487C>G | CA430235075 | TTN,TTN-AS1 | c.98424G>C (p.Gly32808=) c.79509G>C (p.Gly26503=) c.79308G>C (p.Gly26436=) c.78933G>C (p.Gly26311=) c.106128G>C (p.Gly35376=) c.101205G>C (p.Gly33735=) n.446+6851C>G n.220-5245C>G c.105225G>C (p.Gly35075=) c.79119G>C (p.Gly26373=) c.78978G>C (p.Gly26326=) c.105021G>C (p.Gly35007=) c.100419G>C (p.Gly33473=) c.100416G>C (p.Gly33472=) c.97458G>C (p.Gly32486=) c.79074G>C (p.Gly26358=) c.100569G>C (p.Gly33523=) c.100566G>C (p.Gly33522=) c.99999G>C (p.Gly33333=) c.97341G>C (p.Gly32447=) c.97260G>C (p.Gly32420=) c.79023G>C (p.Gly26341=) c.68877G>C (p.Gly22959=) | |
2 | g.178530487C>T | CA430235077 | TTN,TTN-AS1 | c.98424G>A (p.Gly32808=) c.79509G>A (p.Gly26503=) c.79308G>A (p.Gly26436=) c.78933G>A (p.Gly26311=) c.106128G>A (p.Gly35376=) c.101205G>A (p.Gly33735=) n.446+6851C>T n.220-5245C>T c.105225G>A (p.Gly35075=) c.79119G>A (p.Gly26373=) c.78978G>A (p.Gly26326=) c.105021G>A (p.Gly35007=) c.100419G>A (p.Gly33473=) c.100416G>A (p.Gly33472=) c.97458G>A (p.Gly32486=) c.79074G>A (p.Gly26358=) c.100569G>A (p.Gly33523=) c.100566G>A (p.Gly33522=) c.99999G>A (p.Gly33333=) c.97341G>A (p.Gly32447=) c.97260G>A (p.Gly32420=) c.79023G>A (p.Gly26341=) c.68877G>A (p.Gly22959=) | |
2 | g.178530487_178530488insGTGCAGAAGGTGTTGATGCGCGAATTTTGATCTTAACCGTGTCTGATGCAAAAAATGATATTTTCACACTCATCGATGCGGGTGCTGATGGCTATTTATTGAAAGATACCGAGCCAGATGTG | CA2573051719 | TTN,TTN-AS1 | c.98423_98424insCACATCTGGCTCGGTATCTTTCAATAAATAGCCATCAGCACCCGCATCGATGAGTGTGAAAATATCATTTTTTGCATCAGACACGGTTAAGATCAAAATTCGCGCATCAACACCTTCTGCAC (p.Gln32809ThrfsTer10) c.79508_79509insCACATCTGGCTCGGTATCTTTCAATAAATAGCCATCAGCACCCGCATCGATGAGTGTGAAAATATCATTTTTTGCATCAGACACGGTTAAGATCAAAATTCGCGCATCAACACCTTCTGCAC (p.Gln26504ThrfsTer10) c.79307_79308insCACATCTGGCTCGGTATCTTTCAATAAATAGCCATCAGCACCCGCATCGATGAGTGTGAAAATATCATTTTTTGCATCAGACACGGTTAAGATCAAAATTCGCGCATCAACACCTTCTGCAC (p.Gln26437ThrfsTer10) c.78932_78933insCACATCTGGCTCGGTATCTTTCAATAAATAGCCATCAGCACCCGCATCGATGAGTGTGAAAATATCATTTTTTGCATCAGACACGGTTAAGATCAAAATTCGCGCATCAACACCTTCTGCAC (p.Gln26312ThrfsTer10) c.106127_106128insCACATCTGGCTCGGTATCTTTCAATAAATAGCCATCAGCACCCGCATCGATGAGTGTGAAAATATCATTTTTTGCATCAGACACGGTTAAGATCAAAATTCGCGCATCAACACCTTCTGCAC (p.Gln35377ThrfsTer10) c.101204_101205insCACATCTGGCTCGGTATCTTTCAATAAATAGCCATCAGCACCCGCATCGATGAGTGTGAAAATATCATTTTTTGCATCAGACACGGTTAAGATCAAAATTCGCGCATCAACACCTTCTGCAC (p.Gln33736ThrfsTer10) n.446+6851_446+6852insGTGCAGAAGGTGTTGATGCGCGAATTTTGATCTTAACCGTGTCTGATGCAAAAAATGATATTTTCACACTCATCGATGCGGGTGCTGATGGCTATTTATTGAAAGATACCGAGCCAGATGTG n.220-5245_220-5244insGTGCAGAAGGTGTTGATGCGCGAATTTTGATCTTAACCGTGTCTGATGCAAAAAATGATATTTTCACACTCATCGATGCGGGTGCTGATGGCTATTTATTGAAAGATACCGAGCCAGATGTG c.105224_105225insCACATCTGGCTCGGTATCTTTCAATAAATAGCCATCAGCACCCGCATCGATGAGTGTGAAAATATCATTTTTTGCATCAGACACGGTTAAGATCAAAATTCGCGCATCAACACCTTCTGCAC (p.Gln35076ThrfsTer10) c.79118_79119insCACATCTGGCTCGGTATCTTTCAATAAATAGCCATCAGCACCCGCATCGATGAGTGTGAAAATATCATTTTTTGCATCAGACACGGTTAAGATCAAAATTCGCGCATCAACACCTTCTGCAC (p.Gln26374ThrfsTer10) c.78977_78978insCACATCTGGCTCGGTATCTTTCAATAAATAGCCATCAGCACCCGCATCGATGAGTGTGAAAATATCATTTTTTGCATCAGACACGGTTAAGATCAAAATTCGCGCATCAACACCTTCTGCAC (p.Gln26327ThrfsTer10) c.105020_105021insCACATCTGGCTCGGTATCTTTCAATAAATAGCCATCAGCACCCGCATCGATGAGTGTGAAAATATCATTTTTTGCATCAGACACGGTTAAGATCAAAATTCGCGCATCAACACCTTCTGCAC (p.Gln35008ThrfsTer10) c.100418_100419insCACATCTGGCTCGGTATCTTTCAATAAATAGCCATCAGCACCCGCATCGATGAGTGTGAAAATATCATTTTTTGCATCAGACACGGTTAAGATCAAAATTCGCGCATCAACACCTTCTGCAC (p.Gln33474ThrfsTer10) c.100415_100416insCACATCTGGCTCGGTATCTTTCAATAAATAGCCATCAGCACCCGCATCGATGAGTGTGAAAATATCATTTTTTGCATCAGACACGGTTAAGATCAAAATTCGCGCATCAACACCTTCTGCAC (p.Gln33473ThrfsTer10) c.97457_97458insCACATCTGGCTCGGTATCTTTCAATAAATAGCCATCAGCACCCGCATCGATGAGTGTGAAAATATCATTTTTTGCATCAGACACGGTTAAGATCAAAATTCGCGCATCAACACCTTCTGCAC (p.Gln32487ThrfsTer10) c.79073_79074insCACATCTGGCTCGGTATCTTTCAATAAATAGCCATCAGCACCCGCATCGATGAGTGTGAAAATATCATTTTTTGCATCAGACACGGTTAAGATCAAAATTCGCGCATCAACACCTTCTGCAC (p.Gln26359ThrfsTer10) c.100568_100569insCACATCTGGCTCGGTATCTTTCAATAAATAGCCATCAGCACCCGCATCGATGAGTGTGAAAATATCATTTTTTGCATCAGACACGGTTAAGATCAAAATTCGCGCATCAACACCTTCTGCAC (p.Gln33524ThrfsTer10) c.100565_100566insCACATCTGGCTCGGTATCTTTCAATAAATAGCCATCAGCACCCGCATCGATGAGTGTGAAAATATCATTTTTTGCATCAGACACGGTTAAGATCAAAATTCGCGCATCAACACCTTCTGCAC (p.Gln33523ThrfsTer10) c.99998_99999insCACATCTGGCTCGGTATCTTTCAATAAATAGCCATCAGCACCCGCATCGATGAGTGTGAAAATATCATTTTTTGCATCAGACACGGTTAAGATCAAAATTCGCGCATCAACACCTTCTGCAC (p.Gln33334ThrfsTer10) c.97340_97341insCACATCTGGCTCGGTATCTTTCAATAAATAGCCATCAGCACCCGCATCGATGAGTGTGAAAATATCATTTTTTGCATCAGACACGGTTAAGATCAAAATTCGCGCATCAACACCTTCTGCAC (p.Gln32448ThrfsTer10) c.97259_97260insCACATCTGGCTCGGTATCTTTCAATAAATAGCCATCAGCACCCGCATCGATGAGTGTGAAAATATCATTTTTTGCATCAGACACGGTTAAGATCAAAATTCGCGCATCAACACCTTCTGCAC (p.Gln32421ThrfsTer10) c.79022_79023insCACATCTGGCTCGGTATCTTTCAATAAATAGCCATCAGCACCCGCATCGATGAGTGTGAAAATATCATTTTTTGCATCAGACACGGTTAAGATCAAAATTCGCGCATCAACACCTTCTGCAC (p.Gln26342ThrfsTer10) c.68876_68877insCACATCTGGCTCGGTATCTTTCAATAAATAGCCATCAGCACCCGCATCGATGAGTGTGAAAATATCATTTTTTGCATCAGACACGGTTAAGATCAAAATTCGCGCATCAACACCTTCTGCAC (p.Gln22960ThrfsTer10) | dbSNP |
2 | g.178530488C>A | CA349406973 | TTN,TTN-AS1 | c.98423G>T (p.Gly32808Val) c.79508G>T (p.Gly26503Val) c.79307G>T (p.Gly26436Val) c.78932G>T (p.Gly26311Val) c.106127G>T (p.Gly35376Val) c.101204G>T (p.Gly33735Val) n.446+6852C>A n.220-5244C>A c.105224G>T (p.Gly35075Val) c.79118G>T (p.Gly26373Val) c.78977G>T (p.Gly26326Val) c.105020G>T (p.Gly35007Val) c.100418G>T (p.Gly33473Val) c.100415G>T (p.Gly33472Val) c.97457G>T (p.Gly32486Val) c.79073G>T (p.Gly26358Val) c.100568G>T (p.Gly33523Val) c.100565G>T (p.Gly33522Val) c.99998G>T (p.Gly33333Val) c.97340G>T (p.Gly32447Val) c.97259G>T (p.Gly32420Val) c.79022G>T (p.Gly26341Val) c.68876G>T (p.Gly22959Val) | ClinVar |
2 | g.178530488C= | CA1310514680 | TTN,TTN-AS1 | c.98423G= (p.Gly32808=) c.79508G= (p.Gly26503=) c.79307G= (p.Gly26436=) c.78932G= (p.Gly26311=) c.106127G= (p.Gly35376=) c.101204G= (p.Gly33735=) n.446+6852C= n.220-5244C= c.105224G= (p.Gly35075=) c.79118G= (p.Gly26373=) c.78977G= (p.Gly26326=) c.105020G= (p.Gly35007=) c.100418G= (p.Gly33473=) c.100415G= (p.Gly33472=) c.97457G= (p.Gly32486=) c.79073G= (p.Gly26358=) c.100568G= (p.Gly33523=) c.100565G= (p.Gly33522=) c.99998G= (p.Gly33333=) c.97340G= (p.Gly32447=) c.97259G= (p.Gly32420=) c.79022G= (p.Gly26341=) c.68876G= (p.Gly22959=) | |
2 | g.178530488C>G | CA1985162 | TTN,TTN-AS1 | c.98423G>C (p.Gly32808Ala) c.79508G>C (p.Gly26503Ala) c.79307G>C (p.Gly26436Ala) c.78932G>C (p.Gly26311Ala) c.106127G>C (p.Gly35376Ala) c.101204G>C (p.Gly33735Ala) n.446+6852C>G n.220-5244C>G c.105224G>C (p.Gly35075Ala) c.79118G>C (p.Gly26373Ala) c.78977G>C (p.Gly26326Ala) c.105020G>C (p.Gly35007Ala) c.100418G>C (p.Gly33473Ala) c.100415G>C (p.Gly33472Ala) c.97457G>C (p.Gly32486Ala) c.79073G>C (p.Gly26358Ala) c.100568G>C (p.Gly33523Ala) c.100565G>C (p.Gly33522Ala) c.99998G>C (p.Gly33333Ala) c.97340G>C (p.Gly32447Ala) c.97259G>C (p.Gly32420Ala) c.79022G>C (p.Gly26341Ala) c.68876G>C (p.Gly22959Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178530488C>T | CA349406974 | TTN,TTN-AS1 | c.98423G>A (p.Gly32808Glu) c.79508G>A (p.Gly26503Glu) c.79307G>A (p.Gly26436Glu) c.78932G>A (p.Gly26311Glu) c.106127G>A (p.Gly35376Glu) c.101204G>A (p.Gly33735Glu) n.446+6852C>T n.220-5244C>T c.105224G>A (p.Gly35075Glu) c.79118G>A (p.Gly26373Glu) c.78977G>A (p.Gly26326Glu) c.105020G>A (p.Gly35007Glu) c.100418G>A (p.Gly33473Glu) c.100415G>A (p.Gly33472Glu) c.97457G>A (p.Gly32486Glu) c.79073G>A (p.Gly26358Glu) c.100568G>A (p.Gly33523Glu) c.100565G>A (p.Gly33522Glu) c.99998G>A (p.Gly33333Glu) c.97340G>A (p.Gly32447Glu) c.97259G>A (p.Gly32420Glu) c.79022G>A (p.Gly26341Glu) c.68876G>A (p.Gly22959Glu) | |
2 | g.178530489C>A | CA349406977 | TTN,TTN-AS1 | c.98422G>T (p.Gly32808Trp) c.79507G>T (p.Gly26503Trp) c.79306G>T (p.Gly26436Trp) c.78931G>T (p.Gly26311Trp) c.106126G>T (p.Gly35376Trp) c.101203G>T (p.Gly33735Trp) n.446+6853C>A n.220-5243C>A c.105223G>T (p.Gly35075Trp) c.79117G>T (p.Gly26373Trp) c.78976G>T (p.Gly26326Trp) c.105019G>T (p.Gly35007Trp) c.100417G>T (p.Gly33473Trp) c.100414G>T (p.Gly33472Trp) c.97456G>T (p.Gly32486Trp) c.79072G>T (p.Gly26358Trp) c.100567G>T (p.Gly33523Trp) c.100564G>T (p.Gly33522Trp) c.99997G>T (p.Gly33333Trp) c.97339G>T (p.Gly32447Trp) c.97258G>T (p.Gly32420Trp) c.79021G>T (p.Gly26341Trp) c.68875G>T (p.Gly22959Trp) | |
2 | g.178530489C= | CA1310514682 | TTN,TTN-AS1 | c.98422G= (p.Gly32808=) c.79507G= (p.Gly26503=) c.79306G= (p.Gly26436=) c.78931G= (p.Gly26311=) c.106126G= (p.Gly35376=) c.101203G= (p.Gly33735=) n.446+6853C= n.220-5243C= c.105223G= (p.Gly35075=) c.79117G= (p.Gly26373=) c.78976G= (p.Gly26326=) c.105019G= (p.Gly35007=) c.100417G= (p.Gly33473=) c.100414G= (p.Gly33472=) c.97456G= (p.Gly32486=) c.79072G= (p.Gly26358=) c.100567G= (p.Gly33523=) c.100564G= (p.Gly33522=) c.99997G= (p.Gly33333=) c.97339G= (p.Gly32447=) c.97258G= (p.Gly32420=) c.79021G= (p.Gly26341=) c.68875G= (p.Gly22959=) | |
2 | g.178530489C>G | CA349406976 | TTN,TTN-AS1 | c.98422G>C (p.Gly32808Arg) c.79507G>C (p.Gly26503Arg) c.79306G>C (p.Gly26436Arg) c.78931G>C (p.Gly26311Arg) c.106126G>C (p.Gly35376Arg) c.101203G>C (p.Gly33735Arg) n.446+6853C>G n.220-5243C>G c.105223G>C (p.Gly35075Arg) c.79117G>C (p.Gly26373Arg) c.78976G>C (p.Gly26326Arg) c.105019G>C (p.Gly35007Arg) c.100417G>C (p.Gly33473Arg) c.100414G>C (p.Gly33472Arg) c.97456G>C (p.Gly32486Arg) c.79072G>C (p.Gly26358Arg) c.100567G>C (p.Gly33523Arg) c.100564G>C (p.Gly33522Arg) c.99997G>C (p.Gly33333Arg) c.97339G>C (p.Gly32447Arg) c.97258G>C (p.Gly32420Arg) c.79021G>C (p.Gly26341Arg) c.68875G>C (p.Gly22959Arg) | |
2 | g.178530489C>T | CA349406975 | TTN,TTN-AS1 | c.98422G>A (p.Gly32808Arg) c.79507G>A (p.Gly26503Arg) c.79306G>A (p.Gly26436Arg) c.78931G>A (p.Gly26311Arg) c.106126G>A (p.Gly35376Arg) c.101203G>A (p.Gly33735Arg) n.446+6853C>T n.220-5243C>T c.105223G>A (p.Gly35075Arg) c.79117G>A (p.Gly26373Arg) c.78976G>A (p.Gly26326Arg) c.105019G>A (p.Gly35007Arg) c.100417G>A (p.Gly33473Arg) c.100414G>A (p.Gly33472Arg) c.97456G>A (p.Gly32486Arg) c.79072G>A (p.Gly26358Arg) c.100567G>A (p.Gly33523Arg) c.100564G>A (p.Gly33522Arg) c.99997G>A (p.Gly33333Arg) c.97339G>A (p.Gly32447Arg) c.97258G>A (p.Gly32420Arg) c.79021G>A (p.Gly26341Arg) c.68875G>A (p.Gly22959Arg) | ClinVar dbSNP |