| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.178574891del | CA16610325 | TTN,TTN-AS1 | c.63538del (p.Trp21180GlyfsTer12) c.44623del (p.Trp14875GlyfsTer12) c.44422del (p.Trp14808GlyfsTer12) c.44047del (p.Trp14683GlyfsTer12) c.71242del (p.Trp23748GlyfsTer12) c.66319del (p.Trp22107GlyfsTer12) n.596+3442del n.2044-7681del c.70339del (p.Trp23447GlyfsTer12) c.44233del (p.Trp14745GlyfsTer12) c.44092del (p.Trp14698GlyfsTer12) c.70135del (p.Trp23379GlyfsTer12) c.65533del (p.Trp21845GlyfsTer12) c.65530del (p.Trp21844GlyfsTer12) c.62572del (p.Trp20858GlyfsTer12) c.44188del (p.Trp14730GlyfsTer12) c.65683del (p.Trp21895GlyfsTer12) c.65680del (p.Trp21894GlyfsTer12) c.65113del (p.Trp21705GlyfsTer12) c.62455del (p.Trp20819GlyfsTer12) c.62374del (p.Trp20792GlyfsTer12) c.44137del (p.Trp14713GlyfsTer12) c.33991del (p.Trp11331GlyfsTer12) | ClinVar dbSNP |
| 2 | g.178574891A= | CA1310532956 | TTN,TTN-AS1 | c.63537T= (p.Ser21179=) c.44622T= (p.Ser14874=) c.44421T= (p.Ser14807=) c.44046T= (p.Ser14682=) c.71241T= (p.Ser23747=) c.66318T= (p.Ser22106=) n.596+3442A= n.2044-7681A= c.70338T= (p.Ser23446=) c.44232T= (p.Ser14744=) c.44091T= (p.Ser14697=) c.70134T= (p.Ser23378=) c.65532T= (p.Ser21844=) c.65529T= (p.Ser21843=) c.62571T= (p.Ser20857=) c.44187T= (p.Ser14729=) c.65682T= (p.Ser21894=) c.65679T= (p.Ser21893=) c.65112T= (p.Ser21704=) c.62454T= (p.Ser20818=) c.62373T= (p.Ser20791=) c.44136T= (p.Ser14712=) c.33990T= (p.Ser11330=) | |
| 2 | g.178574891A>C | CA430257710 | TTN,TTN-AS1 | c.63537T>G (p.Ser21179=) c.44622T>G (p.Ser14874=) c.44421T>G (p.Ser14807=) c.44046T>G (p.Ser14682=) c.71241T>G (p.Ser23747=) c.66318T>G (p.Ser22106=) n.596+3442A>C n.2044-7681A>C c.70338T>G (p.Ser23446=) c.44232T>G (p.Ser14744=) c.44091T>G (p.Ser14697=) c.70134T>G (p.Ser23378=) c.65532T>G (p.Ser21844=) c.65529T>G (p.Ser21843=) c.62571T>G (p.Ser20857=) c.44187T>G (p.Ser14729=) c.65682T>G (p.Ser21894=) c.65679T>G (p.Ser21893=) c.65112T>G (p.Ser21704=) c.62454T>G (p.Ser20818=) c.62373T>G (p.Ser20791=) c.44136T>G (p.Ser14712=) c.33990T>G (p.Ser11330=) | |
| 2 | g.178574891A>G | CA430257712 | TTN,TTN-AS1 | c.63537T>C (p.Ser21179=) c.44622T>C (p.Ser14874=) c.44421T>C (p.Ser14807=) c.44046T>C (p.Ser14682=) c.71241T>C (p.Ser23747=) c.66318T>C (p.Ser22106=) n.596+3442A>G n.2044-7681A>G c.70338T>C (p.Ser23446=) c.44232T>C (p.Ser14744=) c.44091T>C (p.Ser14697=) c.70134T>C (p.Ser23378=) c.65532T>C (p.Ser21844=) c.65529T>C (p.Ser21843=) c.62571T>C (p.Ser20857=) c.44187T>C (p.Ser14729=) c.65682T>C (p.Ser21894=) c.65679T>C (p.Ser21893=) c.65112T>C (p.Ser21704=) c.62454T>C (p.Ser20818=) c.62373T>C (p.Ser20791=) c.44136T>C (p.Ser14712=) c.33990T>C (p.Ser11330=) | ClinVar dbSNP |
| 2 | g.178574891A>T | CA430257708 | TTN,TTN-AS1 | c.63537T>A (p.Ser21179=) c.44622T>A (p.Ser14874=) c.44421T>A (p.Ser14807=) c.44046T>A (p.Ser14682=) c.71241T>A (p.Ser23747=) c.66318T>A (p.Ser22106=) n.596+3442A>T n.2044-7681A>T c.70338T>A (p.Ser23446=) c.44232T>A (p.Ser14744=) c.44091T>A (p.Ser14697=) c.70134T>A (p.Ser23378=) c.65532T>A (p.Ser21844=) c.65529T>A (p.Ser21843=) c.62571T>A (p.Ser20857=) c.44187T>A (p.Ser14729=) c.65682T>A (p.Ser21894=) c.65679T>A (p.Ser21893=) c.65112T>A (p.Ser21704=) c.62454T>A (p.Ser20818=) c.62373T>A (p.Ser20791=) c.44136T>A (p.Ser14712=) c.33990T>A (p.Ser11330=) | |
| 2 | g.178574892G>A | CA349658680 | TTN,TTN-AS1 | c.63536C>T (p.Ser21179Phe) c.44621C>T (p.Ser14874Phe) c.44420C>T (p.Ser14807Phe) c.44045C>T (p.Ser14682Phe) c.71240C>T (p.Ser23747Phe) c.66317C>T (p.Ser22106Phe) n.596+3443G>A n.2044-7680G>A c.70337C>T (p.Ser23446Phe) c.44231C>T (p.Ser14744Phe) c.44090C>T (p.Ser14697Phe) c.70133C>T (p.Ser23378Phe) c.65531C>T (p.Ser21844Phe) c.65528C>T (p.Ser21843Phe) c.62570C>T (p.Ser20857Phe) c.44186C>T (p.Ser14729Phe) c.65681C>T (p.Ser21894Phe) c.65678C>T (p.Ser21893Phe) c.65111C>T (p.Ser21704Phe) c.62453C>T (p.Ser20818Phe) c.62372C>T (p.Ser20791Phe) c.44135C>T (p.Ser14712Phe) c.33989C>T (p.Ser11330Phe) | |
| 2 | g.178574892G>C | CA349658683 | TTN,TTN-AS1 | c.63536C>G (p.Ser21179Cys) c.44621C>G (p.Ser14874Cys) c.44420C>G (p.Ser14807Cys) c.44045C>G (p.Ser14682Cys) c.71240C>G (p.Ser23747Cys) c.66317C>G (p.Ser22106Cys) n.596+3443G>C n.2044-7680G>C c.70337C>G (p.Ser23446Cys) c.44231C>G (p.Ser14744Cys) c.44090C>G (p.Ser14697Cys) c.70133C>G (p.Ser23378Cys) c.65531C>G (p.Ser21844Cys) c.65528C>G (p.Ser21843Cys) c.62570C>G (p.Ser20857Cys) c.44186C>G (p.Ser14729Cys) c.65681C>G (p.Ser21894Cys) c.65678C>G (p.Ser21893Cys) c.65111C>G (p.Ser21704Cys) c.62453C>G (p.Ser20818Cys) c.62372C>G (p.Ser20791Cys) c.44135C>G (p.Ser14712Cys) c.33989C>G (p.Ser11330Cys) | |
| 2 | g.178574892G>T | CA349658687 | TTN,TTN-AS1 | c.63536C>A (p.Ser21179Tyr) c.44621C>A (p.Ser14874Tyr) c.44420C>A (p.Ser14807Tyr) c.44045C>A (p.Ser14682Tyr) c.71240C>A (p.Ser23747Tyr) c.66317C>A (p.Ser22106Tyr) n.596+3443G>T n.2044-7680G>T c.70337C>A (p.Ser23446Tyr) c.44231C>A (p.Ser14744Tyr) c.44090C>A (p.Ser14697Tyr) c.70133C>A (p.Ser23378Tyr) c.65531C>A (p.Ser21844Tyr) c.65528C>A (p.Ser21843Tyr) c.62570C>A (p.Ser20857Tyr) c.44186C>A (p.Ser14729Tyr) c.65681C>A (p.Ser21894Tyr) c.65678C>A (p.Ser21893Tyr) c.65111C>A (p.Ser21704Tyr) c.62453C>A (p.Ser20818Tyr) c.62372C>A (p.Ser20791Tyr) c.44135C>A (p.Ser14712Tyr) c.33989C>A (p.Ser11330Tyr) | |
| 2 | g.178574893A>C | CA349658695 | TTN,TTN-AS1 | c.63535T>G (p.Ser21179Ala) c.44620T>G (p.Ser14874Ala) c.44419T>G (p.Ser14807Ala) c.44044T>G (p.Ser14682Ala) c.71239T>G (p.Ser23747Ala) c.66316T>G (p.Ser22106Ala) n.596+3444A>C n.2044-7679A>C c.70336T>G (p.Ser23446Ala) c.44230T>G (p.Ser14744Ala) c.44089T>G (p.Ser14697Ala) c.70132T>G (p.Ser23378Ala) c.65530T>G (p.Ser21844Ala) c.65527T>G (p.Ser21843Ala) c.62569T>G (p.Ser20857Ala) c.44185T>G (p.Ser14729Ala) c.65680T>G (p.Ser21894Ala) c.65677T>G (p.Ser21893Ala) c.65110T>G (p.Ser21704Ala) c.62452T>G (p.Ser20818Ala) c.62371T>G (p.Ser20791Ala) c.44134T>G (p.Ser14712Ala) c.33988T>G (p.Ser11330Ala) | |
| 2 | g.178574893A>G | CA349658691 | TTN,TTN-AS1 | c.63535T>C (p.Ser21179Pro) c.44620T>C (p.Ser14874Pro) c.44419T>C (p.Ser14807Pro) c.44044T>C (p.Ser14682Pro) c.71239T>C (p.Ser23747Pro) c.66316T>C (p.Ser22106Pro) n.596+3444A>G n.2044-7679A>G c.70336T>C (p.Ser23446Pro) c.44230T>C (p.Ser14744Pro) c.44089T>C (p.Ser14697Pro) c.70132T>C (p.Ser23378Pro) c.65530T>C (p.Ser21844Pro) c.65527T>C (p.Ser21843Pro) c.62569T>C (p.Ser20857Pro) c.44185T>C (p.Ser14729Pro) c.65680T>C (p.Ser21894Pro) c.65677T>C (p.Ser21893Pro) c.65110T>C (p.Ser21704Pro) c.62452T>C (p.Ser20818Pro) c.62371T>C (p.Ser20791Pro) c.44134T>C (p.Ser14712Pro) c.33988T>C (p.Ser11330Pro) | |
| 2 | g.178574893A>T | CA349658689 | TTN,TTN-AS1 | c.63535T>A (p.Ser21179Thr) c.44620T>A (p.Ser14874Thr) c.44419T>A (p.Ser14807Thr) c.44044T>A (p.Ser14682Thr) c.71239T>A (p.Ser23747Thr) c.66316T>A (p.Ser22106Thr) n.596+3444A>T n.2044-7679A>T c.70336T>A (p.Ser23446Thr) c.44230T>A (p.Ser14744Thr) c.44089T>A (p.Ser14697Thr) c.70132T>A (p.Ser23378Thr) c.65530T>A (p.Ser21844Thr) c.65527T>A (p.Ser21843Thr) c.62569T>A (p.Ser20857Thr) c.44185T>A (p.Ser14729Thr) c.65680T>A (p.Ser21894Thr) c.65677T>A (p.Ser21893Thr) c.65110T>A (p.Ser21704Thr) c.62452T>A (p.Ser20818Thr) c.62371T>A (p.Ser20791Thr) c.44134T>A (p.Ser14712Thr) c.33988T>A (p.Ser11330Thr) | |
| 2 | g.178574894G>A | CA430257716 | TTN,TTN-AS1 | c.63534C>T (p.Phe21178=) c.44619C>T (p.Phe14873=) c.44418C>T (p.Phe14806=) c.44043C>T (p.Phe14681=) c.71238C>T (p.Phe23746=) c.66315C>T (p.Phe22105=) n.596+3445G>A n.2044-7678G>A c.70335C>T (p.Phe23445=) c.44229C>T (p.Phe14743=) c.44088C>T (p.Phe14696=) c.70131C>T (p.Phe23377=) c.65529C>T (p.Phe21843=) c.65526C>T (p.Phe21842=) c.62568C>T (p.Phe20856=) c.44184C>T (p.Phe14728=) c.65679C>T (p.Phe21893=) c.65676C>T (p.Phe21892=) c.65109C>T (p.Phe21703=) c.62451C>T (p.Phe20817=) c.62370C>T (p.Phe20790=) c.44133C>T (p.Phe14711=) c.33987C>T (p.Phe11329=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.178574894G>C | CA349658698 | TTN,TTN-AS1 | c.63534C>G (p.Phe21178Leu) c.44619C>G (p.Phe14873Leu) c.44418C>G (p.Phe14806Leu) c.44043C>G (p.Phe14681Leu) c.71238C>G (p.Phe23746Leu) c.66315C>G (p.Phe22105Leu) n.596+3445G>C n.2044-7678G>C c.70335C>G (p.Phe23445Leu) c.44229C>G (p.Phe14743Leu) c.44088C>G (p.Phe14696Leu) c.70131C>G (p.Phe23377Leu) c.65529C>G (p.Phe21843Leu) c.65526C>G (p.Phe21842Leu) c.62568C>G (p.Phe20856Leu) c.44184C>G (p.Phe14728Leu) c.65679C>G (p.Phe21893Leu) c.65676C>G (p.Phe21892Leu) c.65109C>G (p.Phe21703Leu) c.62451C>G (p.Phe20817Leu) c.62370C>G (p.Phe20790Leu) c.44133C>G (p.Phe14711Leu) c.33987C>G (p.Phe11329Leu) | |
| 2 | g.178574894G= | CA1310532957 | TTN,TTN-AS1 | c.63534C= (p.Phe21178=) c.44619C= (p.Phe14873=) c.44418C= (p.Phe14806=) c.44043C= (p.Phe14681=) c.71238C= (p.Phe23746=) c.66315C= (p.Phe22105=) n.596+3445G= n.2044-7678G= c.70335C= (p.Phe23445=) c.44229C= (p.Phe14743=) c.44088C= (p.Phe14696=) c.70131C= (p.Phe23377=) c.65529C= (p.Phe21843=) c.65526C= (p.Phe21842=) c.62568C= (p.Phe20856=) c.44184C= (p.Phe14728=) c.65679C= (p.Phe21893=) c.65676C= (p.Phe21892=) c.65109C= (p.Phe21703=) c.62451C= (p.Phe20817=) c.62370C= (p.Phe20790=) c.44133C= (p.Phe14711=) c.33987C= (p.Phe11329=) | |
| 2 | g.178574894G>T | CA349658701 | TTN,TTN-AS1 | c.63534C>A (p.Phe21178Leu) c.44619C>A (p.Phe14873Leu) c.44418C>A (p.Phe14806Leu) c.44043C>A (p.Phe14681Leu) c.71238C>A (p.Phe23746Leu) c.66315C>A (p.Phe22105Leu) n.596+3445G>T n.2044-7678G>T c.70335C>A (p.Phe23445Leu) c.44229C>A (p.Phe14743Leu) c.44088C>A (p.Phe14696Leu) c.70131C>A (p.Phe23377Leu) c.65529C>A (p.Phe21843Leu) c.65526C>A (p.Phe21842Leu) c.62568C>A (p.Phe20856Leu) c.44184C>A (p.Phe14728Leu) c.65679C>A (p.Phe21893Leu) c.65676C>A (p.Phe21892Leu) c.65109C>A (p.Phe21703Leu) c.62451C>A (p.Phe20817Leu) c.62370C>A (p.Phe20790Leu) c.44133C>A (p.Phe14711Leu) c.33987C>A (p.Phe11329Leu) | |
| 2 | g.178574895A>C | CA349658704 | TTN,TTN-AS1 | c.63533T>G (p.Phe21178Cys) c.44618T>G (p.Phe14873Cys) c.44417T>G (p.Phe14806Cys) c.44042T>G (p.Phe14681Cys) c.71237T>G (p.Phe23746Cys) c.66314T>G (p.Phe22105Cys) n.596+3446A>C n.2044-7677A>C c.70334T>G (p.Phe23445Cys) c.44228T>G (p.Phe14743Cys) c.44087T>G (p.Phe14696Cys) c.70130T>G (p.Phe23377Cys) c.65528T>G (p.Phe21843Cys) c.65525T>G (p.Phe21842Cys) c.62567T>G (p.Phe20856Cys) c.44183T>G (p.Phe14728Cys) c.65678T>G (p.Phe21893Cys) c.65675T>G (p.Phe21892Cys) c.65108T>G (p.Phe21703Cys) c.62450T>G (p.Phe20817Cys) c.62369T>G (p.Phe20790Cys) c.44132T>G (p.Phe14711Cys) c.33986T>G (p.Phe11329Cys) | |
| 2 | g.178574895A>G | CA349658707 | TTN,TTN-AS1 | c.63533T>C (p.Phe21178Ser) c.44618T>C (p.Phe14873Ser) c.44417T>C (p.Phe14806Ser) c.44042T>C (p.Phe14681Ser) c.71237T>C (p.Phe23746Ser) c.66314T>C (p.Phe22105Ser) n.596+3446A>G n.2044-7677A>G c.70334T>C (p.Phe23445Ser) c.44228T>C (p.Phe14743Ser) c.44087T>C (p.Phe14696Ser) c.70130T>C (p.Phe23377Ser) c.65528T>C (p.Phe21843Ser) c.65525T>C (p.Phe21842Ser) c.62567T>C (p.Phe20856Ser) c.44183T>C (p.Phe14728Ser) c.65678T>C (p.Phe21893Ser) c.65675T>C (p.Phe21892Ser) c.65108T>C (p.Phe21703Ser) c.62450T>C (p.Phe20817Ser) c.62369T>C (p.Phe20790Ser) c.44132T>C (p.Phe14711Ser) c.33986T>C (p.Phe11329Ser) | |
| 2 | g.178574895A>T | CA349658708 | TTN,TTN-AS1 | c.63533T>A (p.Phe21178Tyr) c.44618T>A (p.Phe14873Tyr) c.44417T>A (p.Phe14806Tyr) c.44042T>A (p.Phe14681Tyr) c.71237T>A (p.Phe23746Tyr) c.66314T>A (p.Phe22105Tyr) n.596+3446A>T n.2044-7677A>T c.70334T>A (p.Phe23445Tyr) c.44228T>A (p.Phe14743Tyr) c.44087T>A (p.Phe14696Tyr) c.70130T>A (p.Phe23377Tyr) c.65528T>A (p.Phe21843Tyr) c.65525T>A (p.Phe21842Tyr) c.62567T>A (p.Phe20856Tyr) c.44183T>A (p.Phe14728Tyr) c.65678T>A (p.Phe21893Tyr) c.65675T>A (p.Phe21892Tyr) c.65108T>A (p.Phe21703Tyr) c.62450T>A (p.Phe20817Tyr) c.62369T>A (p.Phe20790Tyr) c.44132T>A (p.Phe14711Tyr) c.33986T>A (p.Phe11329Tyr) | |
| 2 | g.178574896del | CA2739292287 | TTN,TTN-AS1 | c.63533del (p.Phe21178SerfsTer14) c.44618del (p.Phe14873SerfsTer14) c.44417del (p.Phe14806SerfsTer14) c.44042del (p.Phe14681SerfsTer14) c.71237del (p.Phe23746SerfsTer14) c.66314del (p.Phe22105SerfsTer14) n.596+3447del n.2044-7676del c.70334del (p.Phe23445SerfsTer14) c.44228del (p.Phe14743SerfsTer14) c.44087del (p.Phe14696SerfsTer14) c.70130del (p.Phe23377SerfsTer14) c.65528del (p.Phe21843SerfsTer14) c.65525del (p.Phe21842SerfsTer14) c.62567del (p.Phe20856SerfsTer14) c.44183del (p.Phe14728SerfsTer14) c.65678del (p.Phe21893SerfsTer14) c.65675del (p.Phe21892SerfsTer14) c.65108del (p.Phe21703SerfsTer14) c.62450del (p.Phe20817SerfsTer14) c.62369del (p.Phe20790SerfsTer14) c.44132del (p.Phe14711SerfsTer14) c.33986del (p.Phe11329SerfsTer14) | ClinVar |
| 2 | g.178574896A>C | CA349658717 | TTN,TTN-AS1 | c.63532T>G (p.Phe21178Val) c.44617T>G (p.Phe14873Val) c.44416T>G (p.Phe14806Val) c.44041T>G (p.Phe14681Val) c.71236T>G (p.Phe23746Val) c.66313T>G (p.Phe22105Val) n.596+3447A>C n.2044-7676A>C c.70333T>G (p.Phe23445Val) c.44227T>G (p.Phe14743Val) c.44086T>G (p.Phe14696Val) c.70129T>G (p.Phe23377Val) c.65527T>G (p.Phe21843Val) c.65524T>G (p.Phe21842Val) c.62566T>G (p.Phe20856Val) c.44182T>G (p.Phe14728Val) c.65677T>G (p.Phe21893Val) c.65674T>G (p.Phe21892Val) c.65107T>G (p.Phe21703Val) c.62449T>G (p.Phe20817Val) c.62368T>G (p.Phe20790Val) c.44131T>G (p.Phe14711Val) c.33985T>G (p.Phe11329Val) | |
| 2 | g.178574896A>G | CA349658714 | TTN,TTN-AS1 | c.63532T>C (p.Phe21178Leu) c.44617T>C (p.Phe14873Leu) c.44416T>C (p.Phe14806Leu) c.44041T>C (p.Phe14681Leu) c.71236T>C (p.Phe23746Leu) c.66313T>C (p.Phe22105Leu) n.596+3447A>G n.2044-7676A>G c.70333T>C (p.Phe23445Leu) c.44227T>C (p.Phe14743Leu) c.44086T>C (p.Phe14696Leu) c.70129T>C (p.Phe23377Leu) c.65527T>C (p.Phe21843Leu) c.65524T>C (p.Phe21842Leu) c.62566T>C (p.Phe20856Leu) c.44182T>C (p.Phe14728Leu) c.65677T>C (p.Phe21893Leu) c.65674T>C (p.Phe21892Leu) c.65107T>C (p.Phe21703Leu) c.62449T>C (p.Phe20817Leu) c.62368T>C (p.Phe20790Leu) c.44131T>C (p.Phe14711Leu) c.33985T>C (p.Phe11329Leu) | |
| 2 | g.178574896A>T | CA349658711 | TTN,TTN-AS1 | c.63532T>A (p.Phe21178Ile) c.44617T>A (p.Phe14873Ile) c.44416T>A (p.Phe14806Ile) c.44041T>A (p.Phe14681Ile) c.71236T>A (p.Phe23746Ile) c.66313T>A (p.Phe22105Ile) n.596+3447A>T n.2044-7676A>T c.70333T>A (p.Phe23445Ile) c.44227T>A (p.Phe14743Ile) c.44086T>A (p.Phe14696Ile) c.70129T>A (p.Phe23377Ile) c.65527T>A (p.Phe21843Ile) c.65524T>A (p.Phe21842Ile) c.62566T>A (p.Phe20856Ile) c.44182T>A (p.Phe14728Ile) c.65677T>A (p.Phe21893Ile) c.65674T>A (p.Phe21892Ile) c.65107T>A (p.Phe21703Ile) c.62449T>A (p.Phe20817Ile) c.62368T>A (p.Phe20790Ile) c.44131T>A (p.Phe14711Ile) c.33985T>A (p.Phe11329Ile) | |
| 2 | g.178574897G>A | CA430257718 | TTN,TTN-AS1 | c.63531C>T (p.Thr21177=) c.44616C>T (p.Thr14872=) c.44415C>T (p.Thr14805=) c.44040C>T (p.Thr14680=) c.71235C>T (p.Thr23745=) c.66312C>T (p.Thr22104=) n.596+3448G>A n.2044-7675G>A c.70332C>T (p.Thr23444=) c.44226C>T (p.Thr14742=) c.44085C>T (p.Thr14695=) c.70128C>T (p.Thr23376=) c.65526C>T (p.Thr21842=) c.65523C>T (p.Thr21841=) c.62565C>T (p.Thr20855=) c.44181C>T (p.Thr14727=) c.65676C>T (p.Thr21892=) c.65673C>T (p.Thr21891=) c.65106C>T (p.Thr21702=) c.62448C>T (p.Thr20816=) c.62367C>T (p.Thr20789=) c.44130C>T (p.Thr14710=) c.33984C>T (p.Thr11328=) | |
| 2 | g.178574897G>C | CA430257720 | TTN,TTN-AS1 | c.63531C>G (p.Thr21177=) c.44616C>G (p.Thr14872=) c.44415C>G (p.Thr14805=) c.44040C>G (p.Thr14680=) c.71235C>G (p.Thr23745=) c.66312C>G (p.Thr22104=) n.596+3448G>C n.2044-7675G>C c.70332C>G (p.Thr23444=) c.44226C>G (p.Thr14742=) c.44085C>G (p.Thr14695=) c.70128C>G (p.Thr23376=) c.65526C>G (p.Thr21842=) c.65523C>G (p.Thr21841=) c.62565C>G (p.Thr20855=) c.44181C>G (p.Thr14727=) c.65676C>G (p.Thr21892=) c.65673C>G (p.Thr21891=) c.65106C>G (p.Thr21702=) c.62448C>G (p.Thr20816=) c.62367C>G (p.Thr20789=) c.44130C>G (p.Thr14710=) c.33984C>G (p.Thr11328=) | dbSNP |
| 2 | g.178574897G= | CA1310532958 | TTN,TTN-AS1 | c.63531C= (p.Thr21177=) c.44616C= (p.Thr14872=) c.44415C= (p.Thr14805=) c.44040C= (p.Thr14680=) c.71235C= (p.Thr23745=) c.66312C= (p.Thr22104=) n.596+3448G= n.2044-7675G= c.70332C= (p.Thr23444=) c.44226C= (p.Thr14742=) c.44085C= (p.Thr14695=) c.70128C= (p.Thr23376=) c.65526C= (p.Thr21842=) c.65523C= (p.Thr21841=) c.62565C= (p.Thr20855=) c.44181C= (p.Thr14727=) c.65676C= (p.Thr21892=) c.65673C= (p.Thr21891=) c.65106C= (p.Thr21702=) c.62448C= (p.Thr20816=) c.62367C= (p.Thr20789=) c.44130C= (p.Thr14710=) c.33984C= (p.Thr11328=) | |
| 2 | g.178574897G>T | CA430257721 | TTN,TTN-AS1 | c.63531C>A (p.Thr21177=) c.44616C>A (p.Thr14872=) c.44415C>A (p.Thr14805=) c.44040C>A (p.Thr14680=) c.71235C>A (p.Thr23745=) c.66312C>A (p.Thr22104=) n.596+3448G>T n.2044-7675G>T c.70332C>A (p.Thr23444=) c.44226C>A (p.Thr14742=) c.44085C>A (p.Thr14695=) c.70128C>A (p.Thr23376=) c.65526C>A (p.Thr21842=) c.65523C>A (p.Thr21841=) c.62565C>A (p.Thr20855=) c.44181C>A (p.Thr14727=) c.65676C>A (p.Thr21892=) c.65673C>A (p.Thr21891=) c.65106C>A (p.Thr21702=) c.62448C>A (p.Thr20816=) c.62367C>A (p.Thr20789=) c.44130C>A (p.Thr14710=) c.33984C>A (p.Thr11328=) | |
| 2 | g.178574898G>A | CA349658719 | TTN,TTN-AS1 | c.63530C>T (p.Thr21177Ile) c.44615C>T (p.Thr14872Ile) c.44414C>T (p.Thr14805Ile) c.44039C>T (p.Thr14680Ile) c.71234C>T (p.Thr23745Ile) c.66311C>T (p.Thr22104Ile) n.596+3449G>A n.2044-7674G>A c.70331C>T (p.Thr23444Ile) c.44225C>T (p.Thr14742Ile) c.44084C>T (p.Thr14695Ile) c.70127C>T (p.Thr23376Ile) c.65525C>T (p.Thr21842Ile) c.65522C>T (p.Thr21841Ile) c.62564C>T (p.Thr20855Ile) c.44180C>T (p.Thr14727Ile) c.65675C>T (p.Thr21892Ile) c.65672C>T (p.Thr21891Ile) c.65105C>T (p.Thr21702Ile) c.62447C>T (p.Thr20816Ile) c.62366C>T (p.Thr20789Ile) c.44129C>T (p.Thr14710Ile) c.33983C>T (p.Thr11328Ile) | ClinVar dbSNP |
| 2 | g.178574898G>C | CA61002052 | TTN,TTN-AS1 | c.63530C>G (p.Thr21177Ser) c.44615C>G (p.Thr14872Ser) c.44414C>G (p.Thr14805Ser) c.44039C>G (p.Thr14680Ser) c.71234C>G (p.Thr23745Ser) c.66311C>G (p.Thr22104Ser) n.596+3449G>C n.2044-7674G>C c.70331C>G (p.Thr23444Ser) c.44225C>G (p.Thr14742Ser) c.44084C>G (p.Thr14695Ser) c.70127C>G (p.Thr23376Ser) c.65525C>G (p.Thr21842Ser) c.65522C>G (p.Thr21841Ser) c.62564C>G (p.Thr20855Ser) c.44180C>G (p.Thr14727Ser) c.65675C>G (p.Thr21892Ser) c.65672C>G (p.Thr21891Ser) c.65105C>G (p.Thr21702Ser) c.62447C>G (p.Thr20816Ser) c.62366C>G (p.Thr20789Ser) c.44129C>G (p.Thr14710Ser) c.33983C>G (p.Thr11328Ser) | dbSNP |
| 2 | g.178574898G= | CA1310532959 | TTN,TTN-AS1 | c.63530C= (p.Thr21177=) c.44615C= (p.Thr14872=) c.44414C= (p.Thr14805=) c.44039C= (p.Thr14680=) c.71234C= (p.Thr23745=) c.66311C= (p.Thr22104=) n.596+3449G= n.2044-7674G= c.70331C= (p.Thr23444=) c.44225C= (p.Thr14742=) c.44084C= (p.Thr14695=) c.70127C= (p.Thr23376=) c.65525C= (p.Thr21842=) c.65522C= (p.Thr21841=) c.62564C= (p.Thr20855=) c.44180C= (p.Thr14727=) c.65675C= (p.Thr21892=) c.65672C= (p.Thr21891=) c.65105C= (p.Thr21702=) c.62447C= (p.Thr20816=) c.62366C= (p.Thr20789=) c.44129C= (p.Thr14710=) c.33983C= (p.Thr11328=) | |
| 2 | g.178574898G>T | CA349658725 | TTN,TTN-AS1 | c.63530C>A (p.Thr21177Asn) c.44615C>A (p.Thr14872Asn) c.44414C>A (p.Thr14805Asn) c.44039C>A (p.Thr14680Asn) c.71234C>A (p.Thr23745Asn) c.66311C>A (p.Thr22104Asn) n.596+3449G>T n.2044-7674G>T c.70331C>A (p.Thr23444Asn) c.44225C>A (p.Thr14742Asn) c.44084C>A (p.Thr14695Asn) c.70127C>A (p.Thr23376Asn) c.65525C>A (p.Thr21842Asn) c.65522C>A (p.Thr21841Asn) c.62564C>A (p.Thr20855Asn) c.44180C>A (p.Thr14727Asn) c.65675C>A (p.Thr21892Asn) c.65672C>A (p.Thr21891Asn) c.65105C>A (p.Thr21702Asn) c.62447C>A (p.Thr20816Asn) c.62366C>A (p.Thr20789Asn) c.44129C>A (p.Thr14710Asn) c.33983C>A (p.Thr11328Asn) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.178574899T>A | CA349658729 | TTN,TTN-AS1 | c.63529A>T (p.Thr21177Ser) c.44614A>T (p.Thr14872Ser) c.44413A>T (p.Thr14805Ser) c.44038A>T (p.Thr14680Ser) c.71233A>T (p.Thr23745Ser) c.66310A>T (p.Thr22104Ser) n.596+3450T>A n.2044-7673T>A c.70330A>T (p.Thr23444Ser) c.44224A>T (p.Thr14742Ser) c.44083A>T (p.Thr14695Ser) c.70126A>T (p.Thr23376Ser) c.65524A>T (p.Thr21842Ser) c.65521A>T (p.Thr21841Ser) c.62563A>T (p.Thr20855Ser) c.44179A>T (p.Thr14727Ser) c.65674A>T (p.Thr21892Ser) c.65671A>T (p.Thr21891Ser) c.65104A>T (p.Thr21702Ser) c.62446A>T (p.Thr20816Ser) c.62365A>T (p.Thr20789Ser) c.44128A>T (p.Thr14710Ser) c.33982A>T (p.Thr11328Ser) | |
| 2 | g.178574899T>C | CA349658732 | TTN,TTN-AS1 | c.63529A>G (p.Thr21177Ala) c.44614A>G (p.Thr14872Ala) c.44413A>G (p.Thr14805Ala) c.44038A>G (p.Thr14680Ala) c.71233A>G (p.Thr23745Ala) c.66310A>G (p.Thr22104Ala) n.596+3450T>C n.2044-7673T>C c.70330A>G (p.Thr23444Ala) c.44224A>G (p.Thr14742Ala) c.44083A>G (p.Thr14695Ala) c.70126A>G (p.Thr23376Ala) c.65524A>G (p.Thr21842Ala) c.65521A>G (p.Thr21841Ala) c.62563A>G (p.Thr20855Ala) c.44179A>G (p.Thr14727Ala) c.65674A>G (p.Thr21892Ala) c.65671A>G (p.Thr21891Ala) c.65104A>G (p.Thr21702Ala) c.62446A>G (p.Thr20816Ala) c.62365A>G (p.Thr20789Ala) c.44128A>G (p.Thr14710Ala) c.33982A>G (p.Thr11328Ala) | dbSNP gnomAD v2 |
| 2 | g.178574899T>G | CA349658745 | TTN,TTN-AS1 | c.63529A>C (p.Thr21177Pro) c.44614A>C (p.Thr14872Pro) c.44413A>C (p.Thr14805Pro) c.44038A>C (p.Thr14680Pro) c.71233A>C (p.Thr23745Pro) c.66310A>C (p.Thr22104Pro) n.596+3450T>G n.2044-7673T>G c.70330A>C (p.Thr23444Pro) c.44224A>C (p.Thr14742Pro) c.44083A>C (p.Thr14695Pro) c.70126A>C (p.Thr23376Pro) c.65524A>C (p.Thr21842Pro) c.65521A>C (p.Thr21841Pro) c.62563A>C (p.Thr20855Pro) c.44179A>C (p.Thr14727Pro) c.65674A>C (p.Thr21892Pro) c.65671A>C (p.Thr21891Pro) c.65104A>C (p.Thr21702Pro) c.62446A>C (p.Thr20816Pro) c.62365A>C (p.Thr20789Pro) c.44128A>C (p.Thr14710Pro) c.33982A>C (p.Thr11328Pro) | |
| 2 | g.178574899T= | CA1310532960 | TTN,TTN-AS1 | c.63529A= (p.Thr21177=) c.44614A= (p.Thr14872=) c.44413A= (p.Thr14805=) c.44038A= (p.Thr14680=) c.71233A= (p.Thr23745=) c.66310A= (p.Thr22104=) n.596+3450T= n.2044-7673T= c.70330A= (p.Thr23444=) c.44224A= (p.Thr14742=) c.44083A= (p.Thr14695=) c.70126A= (p.Thr23376=) c.65524A= (p.Thr21842=) c.65521A= (p.Thr21841=) c.62563A= (p.Thr20855=) c.44179A= (p.Thr14727=) c.65674A= (p.Thr21892=) c.65671A= (p.Thr21891=) c.65104A= (p.Thr21702=) c.62446A= (p.Thr20816=) c.62365A= (p.Thr20789=) c.44128A= (p.Thr14710=) c.33982A= (p.Thr11328=) | |
| 2 | g.178574900T>A | CA430257723 | TTN,TTN-AS1 | c.63528A>T (p.Val21176=) c.44613A>T (p.Val14871=) c.44412A>T (p.Val14804=) c.44037A>T (p.Val14679=) c.71232A>T (p.Val23744=) c.66309A>T (p.Val22103=) n.596+3451T>A n.2044-7672T>A c.70329A>T (p.Val23443=) c.44223A>T (p.Val14741=) c.44082A>T (p.Val14694=) c.70125A>T (p.Val23375=) c.65523A>T (p.Val21841=) c.65520A>T (p.Val21840=) c.62562A>T (p.Val20854=) c.44178A>T (p.Val14726=) c.65673A>T (p.Val21891=) c.65670A>T (p.Val21890=) c.65103A>T (p.Val21701=) c.62445A>T (p.Val20815=) c.62364A>T (p.Val20788=) c.44127A>T (p.Val14709=) c.33981A>T (p.Val11327=) | |
| 2 | g.178574900T>C | CA430257724 | TTN,TTN-AS1 | c.63528A>G (p.Val21176=) c.44613A>G (p.Val14871=) c.44412A>G (p.Val14804=) c.44037A>G (p.Val14679=) c.71232A>G (p.Val23744=) c.66309A>G (p.Val22103=) n.596+3451T>C n.2044-7672T>C c.70329A>G (p.Val23443=) c.44223A>G (p.Val14741=) c.44082A>G (p.Val14694=) c.70125A>G (p.Val23375=) c.65523A>G (p.Val21841=) c.65520A>G (p.Val21840=) c.62562A>G (p.Val20854=) c.44178A>G (p.Val14726=) c.65673A>G (p.Val21891=) c.65670A>G (p.Val21890=) c.65103A>G (p.Val21701=) c.62445A>G (p.Val20815=) c.62364A>G (p.Val20788=) c.44127A>G (p.Val14709=) c.33981A>G (p.Val11327=) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.178574900T>G | CA430257725 | TTN,TTN-AS1 | c.63528A>C (p.Val21176=) c.44613A>C (p.Val14871=) c.44412A>C (p.Val14804=) c.44037A>C (p.Val14679=) c.71232A>C (p.Val23744=) c.66309A>C (p.Val22103=) n.596+3451T>G n.2044-7672T>G c.70329A>C (p.Val23443=) c.44223A>C (p.Val14741=) c.44082A>C (p.Val14694=) c.70125A>C (p.Val23375=) c.65523A>C (p.Val21841=) c.65520A>C (p.Val21840=) c.62562A>C (p.Val20854=) c.44178A>C (p.Val14726=) c.65673A>C (p.Val21891=) c.65670A>C (p.Val21890=) c.65103A>C (p.Val21701=) c.62445A>C (p.Val20815=) c.62364A>C (p.Val20788=) c.44127A>C (p.Val14709=) c.33981A>C (p.Val11327=) | |
| 2 | g.178574900T= | CA1310532961 | TTN,TTN-AS1 | c.63528A= (p.Val21176=) c.44613A= (p.Val14871=) c.44412A= (p.Val14804=) c.44037A= (p.Val14679=) c.71232A= (p.Val23744=) c.66309A= (p.Val22103=) n.596+3451T= n.2044-7672T= c.70329A= (p.Val23443=) c.44223A= (p.Val14741=) c.44082A= (p.Val14694=) c.70125A= (p.Val23375=) c.65523A= (p.Val21841=) c.65520A= (p.Val21840=) c.62562A= (p.Val20854=) c.44178A= (p.Val14726=) c.65673A= (p.Val21891=) c.65670A= (p.Val21890=) c.65103A= (p.Val21701=) c.62445A= (p.Val20815=) c.62364A= (p.Val20788=) c.44127A= (p.Val14709=) c.33981A= (p.Val11327=) | |
| 2 | g.178574901A>C | CA349658759 | TTN,TTN-AS1 | c.63527T>G (p.Val21176Gly) c.44612T>G (p.Val14871Gly) c.44411T>G (p.Val14804Gly) c.44036T>G (p.Val14679Gly) c.71231T>G (p.Val23744Gly) c.66308T>G (p.Val22103Gly) n.596+3452A>C n.2044-7671A>C c.70328T>G (p.Val23443Gly) c.44222T>G (p.Val14741Gly) c.44081T>G (p.Val14694Gly) c.70124T>G (p.Val23375Gly) c.65522T>G (p.Val21841Gly) c.65519T>G (p.Val21840Gly) c.62561T>G (p.Val20854Gly) c.44177T>G (p.Val14726Gly) c.65672T>G (p.Val21891Gly) c.65669T>G (p.Val21890Gly) c.65102T>G (p.Val21701Gly) c.62444T>G (p.Val20815Gly) c.62363T>G (p.Val20788Gly) c.44126T>G (p.Val14709Gly) c.33980T>G (p.Val11327Gly) | |
| 2 | g.178574901A>G | CA349658755 | TTN,TTN-AS1 | c.63527T>C (p.Val21176Ala) c.44612T>C (p.Val14871Ala) c.44411T>C (p.Val14804Ala) c.44036T>C (p.Val14679Ala) c.71231T>C (p.Val23744Ala) c.66308T>C (p.Val22103Ala) n.596+3452A>G n.2044-7671A>G c.70328T>C (p.Val23443Ala) c.44222T>C (p.Val14741Ala) c.44081T>C (p.Val14694Ala) c.70124T>C (p.Val23375Ala) c.65522T>C (p.Val21841Ala) c.65519T>C (p.Val21840Ala) c.62561T>C (p.Val20854Ala) c.44177T>C (p.Val14726Ala) c.65672T>C (p.Val21891Ala) c.65669T>C (p.Val21890Ala) c.65102T>C (p.Val21701Ala) c.62444T>C (p.Val20815Ala) c.62363T>C (p.Val20788Ala) c.44126T>C (p.Val14709Ala) c.33980T>C (p.Val11327Ala) | |
| 2 | g.178574901A>T | CA349658757 | TTN,TTN-AS1 | c.63527T>A (p.Val21176Glu) c.44612T>A (p.Val14871Glu) c.44411T>A (p.Val14804Glu) c.44036T>A (p.Val14679Glu) c.71231T>A (p.Val23744Glu) c.66308T>A (p.Val22103Glu) n.596+3452A>T n.2044-7671A>T c.70328T>A (p.Val23443Glu) c.44222T>A (p.Val14741Glu) c.44081T>A (p.Val14694Glu) c.70124T>A (p.Val23375Glu) c.65522T>A (p.Val21841Glu) c.65519T>A (p.Val21840Glu) c.62561T>A (p.Val20854Glu) c.44177T>A (p.Val14726Glu) c.65672T>A (p.Val21891Glu) c.65669T>A (p.Val21890Glu) c.65102T>A (p.Val21701Glu) c.62444T>A (p.Val20815Glu) c.62363T>A (p.Val20788Glu) c.44126T>A (p.Val14709Glu) c.33980T>A (p.Val11327Glu) | |
| 2 | g.178574902C>A | CA349658762 | TTN,TTN-AS1 | c.63526G>T (p.Val21176Leu) c.44611G>T (p.Val14871Leu) c.44410G>T (p.Val14804Leu) c.44035G>T (p.Val14679Leu) c.71230G>T (p.Val23744Leu) c.66307G>T (p.Val22103Leu) n.596+3453C>A n.2044-7670C>A c.70327G>T (p.Val23443Leu) c.44221G>T (p.Val14741Leu) c.44080G>T (p.Val14694Leu) c.70123G>T (p.Val23375Leu) c.65521G>T (p.Val21841Leu) c.65518G>T (p.Val21840Leu) c.62560G>T (p.Val20854Leu) c.44176G>T (p.Val14726Leu) c.65671G>T (p.Val21891Leu) c.65668G>T (p.Val21890Leu) c.65101G>T (p.Val21701Leu) c.62443G>T (p.Val20815Leu) c.62362G>T (p.Val20788Leu) c.44125G>T (p.Val14709Leu) c.33979G>T (p.Val11327Leu) | |
| 2 | g.178574902C>G | CA349658764 | TTN,TTN-AS1 | c.63526G>C (p.Val21176Leu) c.44611G>C (p.Val14871Leu) c.44410G>C (p.Val14804Leu) c.44035G>C (p.Val14679Leu) c.71230G>C (p.Val23744Leu) c.66307G>C (p.Val22103Leu) n.596+3453C>G n.2044-7670C>G c.70327G>C (p.Val23443Leu) c.44221G>C (p.Val14741Leu) c.44080G>C (p.Val14694Leu) c.70123G>C (p.Val23375Leu) c.65521G>C (p.Val21841Leu) c.65518G>C (p.Val21840Leu) c.62560G>C (p.Val20854Leu) c.44176G>C (p.Val14726Leu) c.65671G>C (p.Val21891Leu) c.65668G>C (p.Val21890Leu) c.65101G>C (p.Val21701Leu) c.62443G>C (p.Val20815Leu) c.62362G>C (p.Val20788Leu) c.44125G>C (p.Val14709Leu) c.33979G>C (p.Val11327Leu) | |
| 2 | g.178574902C>T | CA349658765 | TTN,TTN-AS1 | c.63526G>A (p.Val21176Ile) c.44611G>A (p.Val14871Ile) c.44410G>A (p.Val14804Ile) c.44035G>A (p.Val14679Ile) c.71230G>A (p.Val23744Ile) c.66307G>A (p.Val22103Ile) n.596+3453C>T n.2044-7670C>T c.70327G>A (p.Val23443Ile) c.44221G>A (p.Val14741Ile) c.44080G>A (p.Val14694Ile) c.70123G>A (p.Val23375Ile) c.65521G>A (p.Val21841Ile) c.65518G>A (p.Val21840Ile) c.62560G>A (p.Val20854Ile) c.44176G>A (p.Val14726Ile) c.65671G>A (p.Val21891Ile) c.65668G>A (p.Val21890Ile) c.65101G>A (p.Val21701Ile) c.62443G>A (p.Val20815Ile) c.62362G>A (p.Val20788Ile) c.44125G>A (p.Val14709Ile) c.33979G>A (p.Val11327Ile) | dbSNP gnomAD v4 |
| 2 | g.178574903A>C | CA349658770 | TTN,TTN-AS1 | c.63525T>G (p.Phe21175Leu) c.44610T>G (p.Phe14870Leu) c.44409T>G (p.Phe14803Leu) c.44034T>G (p.Phe14678Leu) c.71229T>G (p.Phe23743Leu) c.66306T>G (p.Phe22102Leu) n.596+3454A>C n.2044-7669A>C c.70326T>G (p.Phe23442Leu) c.44220T>G (p.Phe14740Leu) c.44079T>G (p.Phe14693Leu) c.70122T>G (p.Phe23374Leu) c.65520T>G (p.Phe21840Leu) c.65517T>G (p.Phe21839Leu) c.62559T>G (p.Phe20853Leu) c.44175T>G (p.Phe14725Leu) c.65670T>G (p.Phe21890Leu) c.65667T>G (p.Phe21889Leu) c.65100T>G (p.Phe21700Leu) c.62442T>G (p.Phe20814Leu) c.62361T>G (p.Phe20787Leu) c.44124T>G (p.Phe14708Leu) c.33978T>G (p.Phe11326Leu) | |
| 2 | g.178574903A>G | CA430257728 | TTN,TTN-AS1 | c.63525T>C (p.Phe21175=) c.44610T>C (p.Phe14870=) c.44409T>C (p.Phe14803=) c.44034T>C (p.Phe14678=) c.71229T>C (p.Phe23743=) c.66306T>C (p.Phe22102=) n.596+3454A>G n.2044-7669A>G c.70326T>C (p.Phe23442=) c.44220T>C (p.Phe14740=) c.44079T>C (p.Phe14693=) c.70122T>C (p.Phe23374=) c.65520T>C (p.Phe21840=) c.65517T>C (p.Phe21839=) c.62559T>C (p.Phe20853=) c.44175T>C (p.Phe14725=) c.65670T>C (p.Phe21890=) c.65667T>C (p.Phe21889=) c.65100T>C (p.Phe21700=) c.62442T>C (p.Phe20814=) c.62361T>C (p.Phe20787=) c.44124T>C (p.Phe14708=) c.33978T>C (p.Phe11326=) | |
| 2 | g.178574903A>T | CA349658773 | TTN,TTN-AS1 | c.63525T>A (p.Phe21175Leu) c.44610T>A (p.Phe14870Leu) c.44409T>A (p.Phe14803Leu) c.44034T>A (p.Phe14678Leu) c.71229T>A (p.Phe23743Leu) c.66306T>A (p.Phe22102Leu) n.596+3454A>T n.2044-7669A>T c.70326T>A (p.Phe23442Leu) c.44220T>A (p.Phe14740Leu) c.44079T>A (p.Phe14693Leu) c.70122T>A (p.Phe23374Leu) c.65520T>A (p.Phe21840Leu) c.65517T>A (p.Phe21839Leu) c.62559T>A (p.Phe20853Leu) c.44175T>A (p.Phe14725Leu) c.65670T>A (p.Phe21890Leu) c.65667T>A (p.Phe21889Leu) c.65100T>A (p.Phe21700Leu) c.62442T>A (p.Phe20814Leu) c.62361T>A (p.Phe20787Leu) c.44124T>A (p.Phe14708Leu) c.33978T>A (p.Phe11326Leu) | |
| 2 | g.178574904A>C | CA349658778 | TTN,TTN-AS1 | c.63524T>G (p.Phe21175Cys) c.44609T>G (p.Phe14870Cys) c.44408T>G (p.Phe14803Cys) c.44033T>G (p.Phe14678Cys) c.71228T>G (p.Phe23743Cys) c.66305T>G (p.Phe22102Cys) n.596+3455A>C n.2044-7668A>C c.70325T>G (p.Phe23442Cys) c.44219T>G (p.Phe14740Cys) c.44078T>G (p.Phe14693Cys) c.70121T>G (p.Phe23374Cys) c.65519T>G (p.Phe21840Cys) c.65516T>G (p.Phe21839Cys) c.62558T>G (p.Phe20853Cys) c.44174T>G (p.Phe14725Cys) c.65669T>G (p.Phe21890Cys) c.65666T>G (p.Phe21889Cys) c.65099T>G (p.Phe21700Cys) c.62441T>G (p.Phe20814Cys) c.62360T>G (p.Phe20787Cys) c.44123T>G (p.Phe14708Cys) c.33977T>G (p.Phe11326Cys) | |
| 2 | g.178574904A>G | CA349658782 | TTN,TTN-AS1 | c.63524T>C (p.Phe21175Ser) c.44609T>C (p.Phe14870Ser) c.44408T>C (p.Phe14803Ser) c.44033T>C (p.Phe14678Ser) c.71228T>C (p.Phe23743Ser) c.66305T>C (p.Phe22102Ser) n.596+3455A>G n.2044-7668A>G c.70325T>C (p.Phe23442Ser) c.44219T>C (p.Phe14740Ser) c.44078T>C (p.Phe14693Ser) c.70121T>C (p.Phe23374Ser) c.65519T>C (p.Phe21840Ser) c.65516T>C (p.Phe21839Ser) c.62558T>C (p.Phe20853Ser) c.44174T>C (p.Phe14725Ser) c.65669T>C (p.Phe21890Ser) c.65666T>C (p.Phe21889Ser) c.65099T>C (p.Phe21700Ser) c.62441T>C (p.Phe20814Ser) c.62360T>C (p.Phe20787Ser) c.44123T>C (p.Phe14708Ser) c.33977T>C (p.Phe11326Ser) | |
| 2 | g.178574904A>T | CA349658783 | TTN,TTN-AS1 | c.63524T>A (p.Phe21175Tyr) c.44609T>A (p.Phe14870Tyr) c.44408T>A (p.Phe14803Tyr) c.44033T>A (p.Phe14678Tyr) c.71228T>A (p.Phe23743Tyr) c.66305T>A (p.Phe22102Tyr) n.596+3455A>T n.2044-7668A>T c.70325T>A (p.Phe23442Tyr) c.44219T>A (p.Phe14740Tyr) c.44078T>A (p.Phe14693Tyr) c.70121T>A (p.Phe23374Tyr) c.65519T>A (p.Phe21840Tyr) c.65516T>A (p.Phe21839Tyr) c.62558T>A (p.Phe20853Tyr) c.44174T>A (p.Phe14725Tyr) c.65669T>A (p.Phe21890Tyr) c.65666T>A (p.Phe21889Tyr) c.65099T>A (p.Phe21700Tyr) c.62441T>A (p.Phe20814Tyr) c.62360T>A (p.Phe20787Tyr) c.44123T>A (p.Phe14708Tyr) c.33977T>A (p.Phe11326Tyr) |