| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.178607482G>A | CA349566033 | TTN,TTN-AS1 | c.45502C>T (p.Arg15168Ter) c.26587C>T (p.Arg8863Ter) c.26386C>T (p.Arg8796Ter) c.26011C>T (p.Arg8671Ter) c.53206C>T (p.Arg17736Ter) c.48283C>T (p.Arg16095Ter) n.683-685G>A c.52303C>T (p.Arg17435Ter) c.26197C>T (p.Arg8733Ter) c.26056C>T (p.Arg8686Ter) c.52099C>T (p.Arg17367Ter) c.47497C>T (p.Arg15833Ter) c.47494C>T (p.Arg15832Ter) c.44536C>T (p.Arg14846Ter) c.26152C>T (p.Arg8718Ter) c.47647C>T (p.Arg15883Ter) c.47644C>T (p.Arg15882Ter) c.47077C>T (p.Arg15693Ter) c.44419C>T (p.Arg14807Ter) c.44338C>T (p.Arg14780Ter) c.26101C>T (p.Arg8701Ter) c.15955C>T (p.Arg5319Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.178607482G>C | CA1993844 | TTN,TTN-AS1 | c.45502C>G (p.Arg15168Gly) c.26587C>G (p.Arg8863Gly) c.26386C>G (p.Arg8796Gly) c.26011C>G (p.Arg8671Gly) c.53206C>G (p.Arg17736Gly) c.48283C>G (p.Arg16095Gly) n.683-685G>C c.52303C>G (p.Arg17435Gly) c.26197C>G (p.Arg8733Gly) c.26056C>G (p.Arg8686Gly) c.52099C>G (p.Arg17367Gly) c.47497C>G (p.Arg15833Gly) c.47494C>G (p.Arg15832Gly) c.44536C>G (p.Arg14846Gly) c.26152C>G (p.Arg8718Gly) c.47647C>G (p.Arg15883Gly) c.47644C>G (p.Arg15882Gly) c.47077C>G (p.Arg15693Gly) c.44419C>G (p.Arg14807Gly) c.44338C>G (p.Arg14780Gly) c.26101C>G (p.Arg8701Gly) c.15955C>G (p.Arg5319Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.178607482G= | CA1310546581 | TTN,TTN-AS1 | c.45502C= (p.Arg15168=) c.26587C= (p.Arg8863=) c.26386C= (p.Arg8796=) c.26011C= (p.Arg8671=) c.53206C= (p.Arg17736=) c.48283C= (p.Arg16095=) n.683-685G= c.52303C= (p.Arg17435=) c.26197C= (p.Arg8733=) c.26056C= (p.Arg8686=) c.52099C= (p.Arg17367=) c.47497C= (p.Arg15833=) c.47494C= (p.Arg15832=) c.44536C= (p.Arg14846=) c.26152C= (p.Arg8718=) c.47647C= (p.Arg15883=) c.47644C= (p.Arg15882=) c.47077C= (p.Arg15693=) c.44419C= (p.Arg14807=) c.44338C= (p.Arg14780=) c.26101C= (p.Arg8701=) c.15955C= (p.Arg5319=) | |
| 2 | g.178607482G>T | CA430270946 | TTN,TTN-AS1 | c.45502C>A (p.Arg15168=) c.26587C>A (p.Arg8863=) c.26386C>A (p.Arg8796=) c.26011C>A (p.Arg8671=) c.53206C>A (p.Arg17736=) c.48283C>A (p.Arg16095=) n.683-685G>T c.52303C>A (p.Arg17435=) c.26197C>A (p.Arg8733=) c.26056C>A (p.Arg8686=) c.52099C>A (p.Arg17367=) c.47497C>A (p.Arg15833=) c.47494C>A (p.Arg15832=) c.44536C>A (p.Arg14846=) c.26152C>A (p.Arg8718=) c.47647C>A (p.Arg15883=) c.47644C>A (p.Arg15882=) c.47077C>A (p.Arg15693=) c.44419C>A (p.Arg14807=) c.44338C>A (p.Arg14780=) c.26101C>A (p.Arg8701=) c.15955C>A (p.Arg5319=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.178607483C>A | CA430270949 | TTN,TTN-AS1 | c.45501G>T (p.Leu15167=) c.26586G>T (p.Leu8862=) c.26385G>T (p.Leu8795=) c.26010G>T (p.Leu8670=) c.53205G>T (p.Leu17735=) c.48282G>T (p.Leu16094=) n.683-684C>A c.52302G>T (p.Leu17434=) c.26196G>T (p.Leu8732=) c.26055G>T (p.Leu8685=) c.52098G>T (p.Leu17366=) c.47496G>T (p.Leu15832=) c.47493G>T (p.Leu15831=) c.44535G>T (p.Leu14845=) c.26151G>T (p.Leu8717=) c.47646G>T (p.Leu15882=) c.47643G>T (p.Leu15881=) c.47076G>T (p.Leu15692=) c.44418G>T (p.Leu14806=) c.44337G>T (p.Leu14779=) c.26100G>T (p.Leu8700=) c.15954G>T (p.Leu5318=) | |
| 2 | g.178607483C>G | CA430270954 | TTN,TTN-AS1 | c.45501G>C (p.Leu15167=) c.26586G>C (p.Leu8862=) c.26385G>C (p.Leu8795=) c.26010G>C (p.Leu8670=) c.53205G>C (p.Leu17735=) c.48282G>C (p.Leu16094=) n.683-684C>G c.52302G>C (p.Leu17434=) c.26196G>C (p.Leu8732=) c.26055G>C (p.Leu8685=) c.52098G>C (p.Leu17366=) c.47496G>C (p.Leu15832=) c.47493G>C (p.Leu15831=) c.44535G>C (p.Leu14845=) c.26151G>C (p.Leu8717=) c.47646G>C (p.Leu15882=) c.47643G>C (p.Leu15881=) c.47076G>C (p.Leu15692=) c.44418G>C (p.Leu14806=) c.44337G>C (p.Leu14779=) c.26100G>C (p.Leu8700=) c.15954G>C (p.Leu5318=) | |
| 2 | g.178607483C>T | CA430270947 | TTN,TTN-AS1 | c.45501G>A (p.Leu15167=) c.26586G>A (p.Leu8862=) c.26385G>A (p.Leu8795=) c.26010G>A (p.Leu8670=) c.53205G>A (p.Leu17735=) c.48282G>A (p.Leu16094=) n.683-684C>T c.52302G>A (p.Leu17434=) c.26196G>A (p.Leu8732=) c.26055G>A (p.Leu8685=) c.52098G>A (p.Leu17366=) c.47496G>A (p.Leu15832=) c.47493G>A (p.Leu15831=) c.44535G>A (p.Leu14845=) c.26151G>A (p.Leu8717=) c.47646G>A (p.Leu15882=) c.47643G>A (p.Leu15881=) c.47076G>A (p.Leu15692=) c.44418G>A (p.Leu14806=) c.44337G>A (p.Leu14779=) c.26100G>A (p.Leu8700=) c.15954G>A (p.Leu5318=) | |
| 2 | g.178607484A= | CA1310546582 | TTN,TTN-AS1 | c.45500T= (p.Leu15167=) c.26585T= (p.Leu8862=) c.26384T= (p.Leu8795=) c.26009T= (p.Leu8670=) c.53204T= (p.Leu17735=) c.48281T= (p.Leu16094=) n.683-683A= c.52301T= (p.Leu17434=) c.26195T= (p.Leu8732=) c.26054T= (p.Leu8685=) c.52097T= (p.Leu17366=) c.47495T= (p.Leu15832=) c.47492T= (p.Leu15831=) c.44534T= (p.Leu14845=) c.26150T= (p.Leu8717=) c.47645T= (p.Leu15882=) c.47642T= (p.Leu15881=) c.47075T= (p.Leu15692=) c.44417T= (p.Leu14806=) c.44336T= (p.Leu14779=) c.26099T= (p.Leu8700=) c.15953T= (p.Leu5318=) | |
| 2 | g.178607484A>C | CA349566040 | TTN,TTN-AS1 | c.45500T>G (p.Leu15167Arg) c.26585T>G (p.Leu8862Arg) c.26384T>G (p.Leu8795Arg) c.26009T>G (p.Leu8670Arg) c.53204T>G (p.Leu17735Arg) c.48281T>G (p.Leu16094Arg) n.683-683A>C c.52301T>G (p.Leu17434Arg) c.26195T>G (p.Leu8732Arg) c.26054T>G (p.Leu8685Arg) c.52097T>G (p.Leu17366Arg) c.47495T>G (p.Leu15832Arg) c.47492T>G (p.Leu15831Arg) c.44534T>G (p.Leu14845Arg) c.26150T>G (p.Leu8717Arg) c.47645T>G (p.Leu15882Arg) c.47642T>G (p.Leu15881Arg) c.47075T>G (p.Leu15692Arg) c.44417T>G (p.Leu14806Arg) c.44336T>G (p.Leu14779Arg) c.26099T>G (p.Leu8700Arg) c.15953T>G (p.Leu5318Arg) | |
| 2 | g.178607484A>G | CA349566042 | TTN,TTN-AS1 | c.45500T>C (p.Leu15167Pro) c.26585T>C (p.Leu8862Pro) c.26384T>C (p.Leu8795Pro) c.26009T>C (p.Leu8670Pro) c.53204T>C (p.Leu17735Pro) c.48281T>C (p.Leu16094Pro) n.683-683A>G c.52301T>C (p.Leu17434Pro) c.26195T>C (p.Leu8732Pro) c.26054T>C (p.Leu8685Pro) c.52097T>C (p.Leu17366Pro) c.47495T>C (p.Leu15832Pro) c.47492T>C (p.Leu15831Pro) c.44534T>C (p.Leu14845Pro) c.26150T>C (p.Leu8717Pro) c.47645T>C (p.Leu15882Pro) c.47642T>C (p.Leu15881Pro) c.47075T>C (p.Leu15692Pro) c.44417T>C (p.Leu14806Pro) c.44336T>C (p.Leu14779Pro) c.26099T>C (p.Leu8700Pro) c.15953T>C (p.Leu5318Pro) | ClinVar dbSNP |
| 2 | g.178607484A>T | CA349566044 | TTN,TTN-AS1 | c.45500T>A (p.Leu15167Gln) c.26585T>A (p.Leu8862Gln) c.26384T>A (p.Leu8795Gln) c.26009T>A (p.Leu8670Gln) c.53204T>A (p.Leu17735Gln) c.48281T>A (p.Leu16094Gln) n.683-683A>T c.52301T>A (p.Leu17434Gln) c.26195T>A (p.Leu8732Gln) c.26054T>A (p.Leu8685Gln) c.52097T>A (p.Leu17366Gln) c.47495T>A (p.Leu15832Gln) c.47492T>A (p.Leu15831Gln) c.44534T>A (p.Leu14845Gln) c.26150T>A (p.Leu8717Gln) c.47645T>A (p.Leu15882Gln) c.47642T>A (p.Leu15881Gln) c.47075T>A (p.Leu15692Gln) c.44417T>A (p.Leu14806Gln) c.44336T>A (p.Leu14779Gln) c.26099T>A (p.Leu8700Gln) c.15953T>A (p.Leu5318Gln) | |
| 2 | g.178607485G>A | CA430270957 | TTN,TTN-AS1 | c.45499C>T (p.Leu15167=) c.26584C>T (p.Leu8862=) c.26383C>T (p.Leu8795=) c.26008C>T (p.Leu8670=) c.53203C>T (p.Leu17735=) c.48280C>T (p.Leu16094=) n.683-682G>A c.52300C>T (p.Leu17434=) c.26194C>T (p.Leu8732=) c.26053C>T (p.Leu8685=) c.52096C>T (p.Leu17366=) c.47494C>T (p.Leu15832=) c.47491C>T (p.Leu15831=) c.44533C>T (p.Leu14845=) c.26149C>T (p.Leu8717=) c.47644C>T (p.Leu15882=) c.47641C>T (p.Leu15881=) c.47074C>T (p.Leu15692=) c.44416C>T (p.Leu14806=) c.44335C>T (p.Leu14779=) c.26098C>T (p.Leu8700=) c.15952C>T (p.Leu5318=) | ClinVar |
| 2 | g.178607485G>C | CA349566047 | TTN,TTN-AS1 | c.45499C>G (p.Leu15167Val) c.26584C>G (p.Leu8862Val) c.26383C>G (p.Leu8795Val) c.26008C>G (p.Leu8670Val) c.53203C>G (p.Leu17735Val) c.48280C>G (p.Leu16094Val) n.683-682G>C c.52300C>G (p.Leu17434Val) c.26194C>G (p.Leu8732Val) c.26053C>G (p.Leu8685Val) c.52096C>G (p.Leu17366Val) c.47494C>G (p.Leu15832Val) c.47491C>G (p.Leu15831Val) c.44533C>G (p.Leu14845Val) c.26149C>G (p.Leu8717Val) c.47644C>G (p.Leu15882Val) c.47641C>G (p.Leu15881Val) c.47074C>G (p.Leu15692Val) c.44416C>G (p.Leu14806Val) c.44335C>G (p.Leu14779Val) c.26098C>G (p.Leu8700Val) c.15952C>G (p.Leu5318Val) | |
| 2 | g.178607485G>T | CA349566049 | TTN,TTN-AS1 | c.45499C>A (p.Leu15167Met) c.26584C>A (p.Leu8862Met) c.26383C>A (p.Leu8795Met) c.26008C>A (p.Leu8670Met) c.53203C>A (p.Leu17735Met) c.48280C>A (p.Leu16094Met) n.683-682G>T c.52300C>A (p.Leu17434Met) c.26194C>A (p.Leu8732Met) c.26053C>A (p.Leu8685Met) c.52096C>A (p.Leu17366Met) c.47494C>A (p.Leu15832Met) c.47491C>A (p.Leu15831Met) c.44533C>A (p.Leu14845Met) c.26149C>A (p.Leu8717Met) c.47644C>A (p.Leu15882Met) c.47641C>A (p.Leu15881Met) c.47074C>A (p.Leu15692Met) c.44416C>A (p.Leu14806Met) c.44335C>A (p.Leu14779Met) c.26098C>A (p.Leu8700Met) c.15952C>A (p.Leu5318Met) | |
| 2 | g.178607486T>A | CA430270959 | TTN,TTN-AS1 | c.45498A>T (p.Ala15166=) c.26583A>T (p.Ala8861=) c.26382A>T (p.Ala8794=) c.26007A>T (p.Ala8669=) c.53202A>T (p.Ala17734=) c.48279A>T (p.Ala16093=) n.683-681T>A c.52299A>T (p.Ala17433=) c.26193A>T (p.Ala8731=) c.26052A>T (p.Ala8684=) c.52095A>T (p.Ala17365=) c.47493A>T (p.Ala15831=) c.47490A>T (p.Ala15830=) c.44532A>T (p.Ala14844=) c.26148A>T (p.Ala8716=) c.47643A>T (p.Ala15881=) c.47640A>T (p.Ala15880=) c.47073A>T (p.Ala15691=) c.44415A>T (p.Ala14805=) c.44334A>T (p.Ala14778=) c.26097A>T (p.Ala8699=) c.15951A>T (p.Ala5317=) | |
| 2 | g.178607486T>C | CA430270960 | TTN,TTN-AS1 | c.45498A>G (p.Ala15166=) c.26583A>G (p.Ala8861=) c.26382A>G (p.Ala8794=) c.26007A>G (p.Ala8669=) c.53202A>G (p.Ala17734=) c.48279A>G (p.Ala16093=) n.683-681T>C c.52299A>G (p.Ala17433=) c.26193A>G (p.Ala8731=) c.26052A>G (p.Ala8684=) c.52095A>G (p.Ala17365=) c.47493A>G (p.Ala15831=) c.47490A>G (p.Ala15830=) c.44532A>G (p.Ala14844=) c.26148A>G (p.Ala8716=) c.47643A>G (p.Ala15881=) c.47640A>G (p.Ala15880=) c.47073A>G (p.Ala15691=) c.44415A>G (p.Ala14805=) c.44334A>G (p.Ala14778=) c.26097A>G (p.Ala8699=) c.15951A>G (p.Ala5317=) | gnomAD v4 |
| 2 | g.178607486T>G | CA430270961 | TTN,TTN-AS1 | c.45498A>C (p.Ala15166=) c.26583A>C (p.Ala8861=) c.26382A>C (p.Ala8794=) c.26007A>C (p.Ala8669=) c.53202A>C (p.Ala17734=) c.48279A>C (p.Ala16093=) n.683-681T>G c.52299A>C (p.Ala17433=) c.26193A>C (p.Ala8731=) c.26052A>C (p.Ala8684=) c.52095A>C (p.Ala17365=) c.47493A>C (p.Ala15831=) c.47490A>C (p.Ala15830=) c.44532A>C (p.Ala14844=) c.26148A>C (p.Ala8716=) c.47643A>C (p.Ala15881=) c.47640A>C (p.Ala15880=) c.47073A>C (p.Ala15691=) c.44415A>C (p.Ala14805=) c.44334A>C (p.Ala14778=) c.26097A>C (p.Ala8699=) c.15951A>C (p.Ala5317=) | |
| 2 | g.178607487G>A | CA349566055 | TTN,TTN-AS1 | c.45497C>T (p.Ala15166Val) c.26582C>T (p.Ala8861Val) c.26381C>T (p.Ala8794Val) c.26006C>T (p.Ala8669Val) c.53201C>T (p.Ala17734Val) c.48278C>T (p.Ala16093Val) n.683-680G>A c.52298C>T (p.Ala17433Val) c.26192C>T (p.Ala8731Val) c.26051C>T (p.Ala8684Val) c.52094C>T (p.Ala17365Val) c.47492C>T (p.Ala15831Val) c.47489C>T (p.Ala15830Val) c.44531C>T (p.Ala14844Val) c.26147C>T (p.Ala8716Val) c.47642C>T (p.Ala15881Val) c.47639C>T (p.Ala15880Val) c.47072C>T (p.Ala15691Val) c.44414C>T (p.Ala14805Val) c.44333C>T (p.Ala14778Val) c.26096C>T (p.Ala8699Val) c.15950C>T (p.Ala5317Val) | |
| 2 | g.178607487G>C | CA349566054 | TTN,TTN-AS1 | c.45497C>G (p.Ala15166Gly) c.26582C>G (p.Ala8861Gly) c.26381C>G (p.Ala8794Gly) c.26006C>G (p.Ala8669Gly) c.53201C>G (p.Ala17734Gly) c.48278C>G (p.Ala16093Gly) n.683-680G>C c.52298C>G (p.Ala17433Gly) c.26192C>G (p.Ala8731Gly) c.26051C>G (p.Ala8684Gly) c.52094C>G (p.Ala17365Gly) c.47492C>G (p.Ala15831Gly) c.47489C>G (p.Ala15830Gly) c.44531C>G (p.Ala14844Gly) c.26147C>G (p.Ala8716Gly) c.47642C>G (p.Ala15881Gly) c.47639C>G (p.Ala15880Gly) c.47072C>G (p.Ala15691Gly) c.44414C>G (p.Ala14805Gly) c.44333C>G (p.Ala14778Gly) c.26096C>G (p.Ala8699Gly) c.15950C>G (p.Ala5317Gly) | |
| 2 | g.178607487G>T | CA349566052 | TTN,TTN-AS1 | c.45497C>A (p.Ala15166Glu) c.26582C>A (p.Ala8861Glu) c.26381C>A (p.Ala8794Glu) c.26006C>A (p.Ala8669Glu) c.53201C>A (p.Ala17734Glu) c.48278C>A (p.Ala16093Glu) n.683-680G>T c.52298C>A (p.Ala17433Glu) c.26192C>A (p.Ala8731Glu) c.26051C>A (p.Ala8684Glu) c.52094C>A (p.Ala17365Glu) c.47492C>A (p.Ala15831Glu) c.47489C>A (p.Ala15830Glu) c.44531C>A (p.Ala14844Glu) c.26147C>A (p.Ala8716Glu) c.47642C>A (p.Ala15881Glu) c.47639C>A (p.Ala15880Glu) c.47072C>A (p.Ala15691Glu) c.44414C>A (p.Ala14805Glu) c.44333C>A (p.Ala14778Glu) c.26096C>A (p.Ala8699Glu) c.15950C>A (p.Ala5317Glu) | |
| 2 | g.178607488C>A | CA349566062 | TTN,TTN-AS1 | c.45496G>T (p.Ala15166Ser) c.26581G>T (p.Ala8861Ser) c.26380G>T (p.Ala8794Ser) c.26005G>T (p.Ala8669Ser) c.53200G>T (p.Ala17734Ser) c.48277G>T (p.Ala16093Ser) n.683-679C>A c.52297G>T (p.Ala17433Ser) c.26191G>T (p.Ala8731Ser) c.26050G>T (p.Ala8684Ser) c.52093G>T (p.Ala17365Ser) c.47491G>T (p.Ala15831Ser) c.47488G>T (p.Ala15830Ser) c.44530G>T (p.Ala14844Ser) c.26146G>T (p.Ala8716Ser) c.47641G>T (p.Ala15881Ser) c.47638G>T (p.Ala15880Ser) c.47071G>T (p.Ala15691Ser) c.44413G>T (p.Ala14805Ser) c.44332G>T (p.Ala14778Ser) c.26095G>T (p.Ala8699Ser) c.15949G>T (p.Ala5317Ser) | |
| 2 | g.178607488C>G | CA349566059 | TTN,TTN-AS1 | c.45496G>C (p.Ala15166Pro) c.26581G>C (p.Ala8861Pro) c.26380G>C (p.Ala8794Pro) c.26005G>C (p.Ala8669Pro) c.53200G>C (p.Ala17734Pro) c.48277G>C (p.Ala16093Pro) n.683-679C>G c.52297G>C (p.Ala17433Pro) c.26191G>C (p.Ala8731Pro) c.26050G>C (p.Ala8684Pro) c.52093G>C (p.Ala17365Pro) c.47491G>C (p.Ala15831Pro) c.47488G>C (p.Ala15830Pro) c.44530G>C (p.Ala14844Pro) c.26146G>C (p.Ala8716Pro) c.47641G>C (p.Ala15881Pro) c.47638G>C (p.Ala15880Pro) c.47071G>C (p.Ala15691Pro) c.44413G>C (p.Ala14805Pro) c.44332G>C (p.Ala14778Pro) c.26095G>C (p.Ala8699Pro) c.15949G>C (p.Ala5317Pro) | |
| 2 | g.178607488C>T | CA349566060 | TTN,TTN-AS1 | c.45496G>A (p.Ala15166Thr) c.26581G>A (p.Ala8861Thr) c.26380G>A (p.Ala8794Thr) c.26005G>A (p.Ala8669Thr) c.53200G>A (p.Ala17734Thr) c.48277G>A (p.Ala16093Thr) n.683-679C>T c.52297G>A (p.Ala17433Thr) c.26191G>A (p.Ala8731Thr) c.26050G>A (p.Ala8684Thr) c.52093G>A (p.Ala17365Thr) c.47491G>A (p.Ala15831Thr) c.47488G>A (p.Ala15830Thr) c.44530G>A (p.Ala14844Thr) c.26146G>A (p.Ala8716Thr) c.47641G>A (p.Ala15881Thr) c.47638G>A (p.Ala15880Thr) c.47071G>A (p.Ala15691Thr) c.44413G>A (p.Ala14805Thr) c.44332G>A (p.Ala14778Thr) c.26095G>A (p.Ala8699Thr) c.15949G>A (p.Ala5317Thr) | gnomAD v4 |
| 2 | g.178607489A>C | CA349566064 | TTN,TTN-AS1 | c.45495T>G (p.Asp15165Glu) c.26580T>G (p.Asp8860Glu) c.26379T>G (p.Asp8793Glu) c.26004T>G (p.Asp8668Glu) c.53199T>G (p.Asp17733Glu) c.48276T>G (p.Asp16092Glu) n.683-678A>C c.52296T>G (p.Asp17432Glu) c.26190T>G (p.Asp8730Glu) c.26049T>G (p.Asp8683Glu) c.52092T>G (p.Asp17364Glu) c.47490T>G (p.Asp15830Glu) c.47487T>G (p.Asp15829Glu) c.44529T>G (p.Asp14843Glu) c.26145T>G (p.Asp8715Glu) c.47640T>G (p.Asp15880Glu) c.47637T>G (p.Asp15879Glu) c.47070T>G (p.Asp15690Glu) c.44412T>G (p.Asp14804Glu) c.44331T>G (p.Asp14777Glu) c.26094T>G (p.Asp8698Glu) c.15948T>G (p.Asp5316Glu) | gnomAD v4 |
| 2 | g.178607489A>G | CA430270974 | TTN,TTN-AS1 | c.45495T>C (p.Asp15165=) c.26580T>C (p.Asp8860=) c.26379T>C (p.Asp8793=) c.26004T>C (p.Asp8668=) c.53199T>C (p.Asp17733=) c.48276T>C (p.Asp16092=) n.683-678A>G c.52296T>C (p.Asp17432=) c.26190T>C (p.Asp8730=) c.26049T>C (p.Asp8683=) c.52092T>C (p.Asp17364=) c.47490T>C (p.Asp15830=) c.47487T>C (p.Asp15829=) c.44529T>C (p.Asp14843=) c.26145T>C (p.Asp8715=) c.47640T>C (p.Asp15880=) c.47637T>C (p.Asp15879=) c.47070T>C (p.Asp15690=) c.44412T>C (p.Asp14804=) c.44331T>C (p.Asp14777=) c.26094T>C (p.Asp8698=) c.15948T>C (p.Asp5316=) | |
| 2 | g.178607489A>T | CA349566066 | TTN,TTN-AS1 | c.45495T>A (p.Asp15165Glu) c.26580T>A (p.Asp8860Glu) c.26379T>A (p.Asp8793Glu) c.26004T>A (p.Asp8668Glu) c.53199T>A (p.Asp17733Glu) c.48276T>A (p.Asp16092Glu) n.683-678A>T c.52296T>A (p.Asp17432Glu) c.26190T>A (p.Asp8730Glu) c.26049T>A (p.Asp8683Glu) c.52092T>A (p.Asp17364Glu) c.47490T>A (p.Asp15830Glu) c.47487T>A (p.Asp15829Glu) c.44529T>A (p.Asp14843Glu) c.26145T>A (p.Asp8715Glu) c.47640T>A (p.Asp15880Glu) c.47637T>A (p.Asp15879Glu) c.47070T>A (p.Asp15690Glu) c.44412T>A (p.Asp14804Glu) c.44331T>A (p.Asp14777Glu) c.26094T>A (p.Asp8698Glu) c.15948T>A (p.Asp5316Glu) | |
| 2 | g.178607490T>A | CA349566068 | TTN,TTN-AS1 | c.45494A>T (p.Asp15165Val) c.26579A>T (p.Asp8860Val) c.26378A>T (p.Asp8793Val) c.26003A>T (p.Asp8668Val) c.53198A>T (p.Asp17733Val) c.48275A>T (p.Asp16092Val) n.683-677T>A c.52295A>T (p.Asp17432Val) c.26189A>T (p.Asp8730Val) c.26048A>T (p.Asp8683Val) c.52091A>T (p.Asp17364Val) c.47489A>T (p.Asp15830Val) c.47486A>T (p.Asp15829Val) c.44528A>T (p.Asp14843Val) c.26144A>T (p.Asp8715Val) c.47639A>T (p.Asp15880Val) c.47636A>T (p.Asp15879Val) c.47069A>T (p.Asp15690Val) c.44411A>T (p.Asp14804Val) c.44330A>T (p.Asp14777Val) c.26093A>T (p.Asp8698Val) c.15947A>T (p.Asp5316Val) | |
| 2 | g.178607490T>C | CA349566070 | TTN,TTN-AS1 | c.45494A>G (p.Asp15165Gly) c.26579A>G (p.Asp8860Gly) c.26378A>G (p.Asp8793Gly) c.26003A>G (p.Asp8668Gly) c.53198A>G (p.Asp17733Gly) c.48275A>G (p.Asp16092Gly) n.683-677T>C c.52295A>G (p.Asp17432Gly) c.26189A>G (p.Asp8730Gly) c.26048A>G (p.Asp8683Gly) c.52091A>G (p.Asp17364Gly) c.47489A>G (p.Asp15830Gly) c.47486A>G (p.Asp15829Gly) c.44528A>G (p.Asp14843Gly) c.26144A>G (p.Asp8715Gly) c.47639A>G (p.Asp15880Gly) c.47636A>G (p.Asp15879Gly) c.47069A>G (p.Asp15690Gly) c.44411A>G (p.Asp14804Gly) c.44330A>G (p.Asp14777Gly) c.26093A>G (p.Asp8698Gly) c.15947A>G (p.Asp5316Gly) | |
| 2 | g.178607490T>G | CA349566071 | TTN,TTN-AS1 | c.45494A>C (p.Asp15165Ala) c.26579A>C (p.Asp8860Ala) c.26378A>C (p.Asp8793Ala) c.26003A>C (p.Asp8668Ala) c.53198A>C (p.Asp17733Ala) c.48275A>C (p.Asp16092Ala) n.683-677T>G c.52295A>C (p.Asp17432Ala) c.26189A>C (p.Asp8730Ala) c.26048A>C (p.Asp8683Ala) c.52091A>C (p.Asp17364Ala) c.47489A>C (p.Asp15830Ala) c.47486A>C (p.Asp15829Ala) c.44528A>C (p.Asp14843Ala) c.26144A>C (p.Asp8715Ala) c.47639A>C (p.Asp15880Ala) c.47636A>C (p.Asp15879Ala) c.47069A>C (p.Asp15690Ala) c.44411A>C (p.Asp14804Ala) c.44330A>C (p.Asp14777Ala) c.26093A>C (p.Asp8698Ala) c.15947A>C (p.Asp5316Ala) | |
| 2 | g.178607491C>A | CA349567466 | TTN,TTN-AS1 | c.45493G>T (p.Asp15165Tyr) c.26578G>T (p.Asp8860Tyr) c.26377G>T (p.Asp8793Tyr) c.26002G>T (p.Asp8668Tyr) c.53197G>T (p.Asp17733Tyr) c.48274G>T (p.Asp16092Tyr) n.683-676C>A c.52294G>T (p.Asp17432Tyr) c.26188G>T (p.Asp8730Tyr) c.26047G>T (p.Asp8683Tyr) c.52090G>T (p.Asp17364Tyr) c.47488G>T (p.Asp15830Tyr) c.47485G>T (p.Asp15829Tyr) c.44527G>T (p.Asp14843Tyr) c.26143G>T (p.Asp8715Tyr) c.47638G>T (p.Asp15880Tyr) c.47635G>T (p.Asp15879Tyr) c.47068G>T (p.Asp15690Tyr) c.44410G>T (p.Asp14804Tyr) c.44329G>T (p.Asp14777Tyr) c.26092G>T (p.Asp8698Tyr) c.15946G>T (p.Asp5316Tyr) | |
| 2 | g.178607491C>G | CA349567471 | TTN,TTN-AS1 | c.45493G>C (p.Asp15165His) c.26578G>C (p.Asp8860His) c.26377G>C (p.Asp8793His) c.26002G>C (p.Asp8668His) c.53197G>C (p.Asp17733His) c.48274G>C (p.Asp16092His) n.683-676C>G c.52294G>C (p.Asp17432His) c.26188G>C (p.Asp8730His) c.26047G>C (p.Asp8683His) c.52090G>C (p.Asp17364His) c.47488G>C (p.Asp15830His) c.47485G>C (p.Asp15829His) c.44527G>C (p.Asp14843His) c.26143G>C (p.Asp8715His) c.47638G>C (p.Asp15880His) c.47635G>C (p.Asp15879His) c.47068G>C (p.Asp15690His) c.44410G>C (p.Asp14804His) c.44329G>C (p.Asp14777His) c.26092G>C (p.Asp8698His) c.15946G>C (p.Asp5316His) | |
| 2 | g.178607491C>T | CA349567477 | TTN,TTN-AS1 | c.45493G>A (p.Asp15165Asn) c.26578G>A (p.Asp8860Asn) c.26377G>A (p.Asp8793Asn) c.26002G>A (p.Asp8668Asn) c.53197G>A (p.Asp17733Asn) c.48274G>A (p.Asp16092Asn) n.683-676C>T c.52294G>A (p.Asp17432Asn) c.26188G>A (p.Asp8730Asn) c.26047G>A (p.Asp8683Asn) c.52090G>A (p.Asp17364Asn) c.47488G>A (p.Asp15830Asn) c.47485G>A (p.Asp15829Asn) c.44527G>A (p.Asp14843Asn) c.26143G>A (p.Asp8715Asn) c.47638G>A (p.Asp15880Asn) c.47635G>A (p.Asp15879Asn) c.47068G>A (p.Asp15690Asn) c.44410G>A (p.Asp14804Asn) c.44329G>A (p.Asp14777Asn) c.26092G>A (p.Asp8698Asn) c.15946G>A (p.Asp5316Asn) | |
| 2 | g.178607492C>A | CA349567484 | TTN,TTN-AS1 | c.45492G>T (p.Lys15164Asn) c.26577G>T (p.Lys8859Asn) c.26376G>T (p.Lys8792Asn) c.26001G>T (p.Lys8667Asn) c.53196G>T (p.Lys17732Asn) c.48273G>T (p.Lys16091Asn) n.683-675C>A c.52293G>T (p.Lys17431Asn) c.26187G>T (p.Lys8729Asn) c.26046G>T (p.Lys8682Asn) c.52089G>T (p.Lys17363Asn) c.47487G>T (p.Lys15829Asn) c.47484G>T (p.Lys15828Asn) c.44526G>T (p.Lys14842Asn) c.26142G>T (p.Lys8714Asn) c.47637G>T (p.Lys15879Asn) c.47634G>T (p.Lys15878Asn) c.47067G>T (p.Lys15689Asn) c.44409G>T (p.Lys14803Asn) c.44328G>T (p.Lys14776Asn) c.26091G>T (p.Lys8697Asn) c.15945G>T (p.Lys5315Asn) | |
| 2 | g.178607492C>G | CA349567487 | TTN,TTN-AS1 | c.45492G>C (p.Lys15164Asn) c.26577G>C (p.Lys8859Asn) c.26376G>C (p.Lys8792Asn) c.26001G>C (p.Lys8667Asn) c.53196G>C (p.Lys17732Asn) c.48273G>C (p.Lys16091Asn) n.683-675C>G c.52293G>C (p.Lys17431Asn) c.26187G>C (p.Lys8729Asn) c.26046G>C (p.Lys8682Asn) c.52089G>C (p.Lys17363Asn) c.47487G>C (p.Lys15829Asn) c.47484G>C (p.Lys15828Asn) c.44526G>C (p.Lys14842Asn) c.26142G>C (p.Lys8714Asn) c.47637G>C (p.Lys15879Asn) c.47634G>C (p.Lys15878Asn) c.47067G>C (p.Lys15689Asn) c.44409G>C (p.Lys14803Asn) c.44328G>C (p.Lys14776Asn) c.26091G>C (p.Lys8697Asn) c.15945G>C (p.Lys5315Asn) | |
| 2 | g.178607492C>T | CA430270562 | TTN,TTN-AS1 | c.45492G>A (p.Lys15164=) c.26577G>A (p.Lys8859=) c.26376G>A (p.Lys8792=) c.26001G>A (p.Lys8667=) c.53196G>A (p.Lys17732=) c.48273G>A (p.Lys16091=) n.683-675C>T c.52293G>A (p.Lys17431=) c.26187G>A (p.Lys8729=) c.26046G>A (p.Lys8682=) c.52089G>A (p.Lys17363=) c.47487G>A (p.Lys15829=) c.47484G>A (p.Lys15828=) c.44526G>A (p.Lys14842=) c.26142G>A (p.Lys8714=) c.47637G>A (p.Lys15879=) c.47634G>A (p.Lys15878=) c.47067G>A (p.Lys15689=) c.44409G>A (p.Lys14803=) c.44328G>A (p.Lys14776=) c.26091G>A (p.Lys8697=) c.15945G>A (p.Lys5315=) | |
| 2 | g.178607493T>A | CA349567494 | TTN,TTN-AS1 | c.45491A>T (p.Lys15164Met) c.26576A>T (p.Lys8859Met) c.26375A>T (p.Lys8792Met) c.26000A>T (p.Lys8667Met) c.53195A>T (p.Lys17732Met) c.48272A>T (p.Lys16091Met) n.683-674T>A c.52292A>T (p.Lys17431Met) c.26186A>T (p.Lys8729Met) c.26045A>T (p.Lys8682Met) c.52088A>T (p.Lys17363Met) c.47486A>T (p.Lys15829Met) c.47483A>T (p.Lys15828Met) c.44525A>T (p.Lys14842Met) c.26141A>T (p.Lys8714Met) c.47636A>T (p.Lys15879Met) c.47633A>T (p.Lys15878Met) c.47066A>T (p.Lys15689Met) c.44408A>T (p.Lys14803Met) c.44327A>T (p.Lys14776Met) c.26090A>T (p.Lys8697Met) c.15944A>T (p.Lys5315Met) | |
| 2 | g.178607493T>C | CA349567502 | TTN,TTN-AS1 | c.45491A>G (p.Lys15164Arg) c.26576A>G (p.Lys8859Arg) c.26375A>G (p.Lys8792Arg) c.26000A>G (p.Lys8667Arg) c.53195A>G (p.Lys17732Arg) c.48272A>G (p.Lys16091Arg) n.683-674T>C c.52292A>G (p.Lys17431Arg) c.26186A>G (p.Lys8729Arg) c.26045A>G (p.Lys8682Arg) c.52088A>G (p.Lys17363Arg) c.47486A>G (p.Lys15829Arg) c.47483A>G (p.Lys15828Arg) c.44525A>G (p.Lys14842Arg) c.26141A>G (p.Lys8714Arg) c.47636A>G (p.Lys15879Arg) c.47633A>G (p.Lys15878Arg) c.47066A>G (p.Lys15689Arg) c.44408A>G (p.Lys14803Arg) c.44327A>G (p.Lys14776Arg) c.26090A>G (p.Lys8697Arg) c.15944A>G (p.Lys5315Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.178607493T>G | CA349567491 | TTN,TTN-AS1 | c.45491A>C (p.Lys15164Thr) c.26576A>C (p.Lys8859Thr) c.26375A>C (p.Lys8792Thr) c.26000A>C (p.Lys8667Thr) c.53195A>C (p.Lys17732Thr) c.48272A>C (p.Lys16091Thr) n.683-674T>G c.52292A>C (p.Lys17431Thr) c.26186A>C (p.Lys8729Thr) c.26045A>C (p.Lys8682Thr) c.52088A>C (p.Lys17363Thr) c.47486A>C (p.Lys15829Thr) c.47483A>C (p.Lys15828Thr) c.44525A>C (p.Lys14842Thr) c.26141A>C (p.Lys8714Thr) c.47636A>C (p.Lys15879Thr) c.47633A>C (p.Lys15878Thr) c.47066A>C (p.Lys15689Thr) c.44408A>C (p.Lys14803Thr) c.44327A>C (p.Lys14776Thr) c.26090A>C (p.Lys8697Thr) c.15944A>C (p.Lys5315Thr) | |
| 2 | g.178607493T= | CA1310546583 | TTN,TTN-AS1 | c.45491A= (p.Lys15164=) c.26576A= (p.Lys8859=) c.26375A= (p.Lys8792=) c.26000A= (p.Lys8667=) c.53195A= (p.Lys17732=) c.48272A= (p.Lys16091=) n.683-674T= c.52292A= (p.Lys17431=) c.26186A= (p.Lys8729=) c.26045A= (p.Lys8682=) c.52088A= (p.Lys17363=) c.47486A= (p.Lys15829=) c.47483A= (p.Lys15828=) c.44525A= (p.Lys14842=) c.26141A= (p.Lys8714=) c.47636A= (p.Lys15879=) c.47633A= (p.Lys15878=) c.47066A= (p.Lys15689=) c.44408A= (p.Lys14803=) c.44327A= (p.Lys14776=) c.26090A= (p.Lys8697=) c.15944A= (p.Lys5315=) | |
| 2 | g.178607494T>A | CA349567507 | TTN,TTN-AS1 | c.45490A>T (p.Lys15164Ter) c.26575A>T (p.Lys8859Ter) c.26374A>T (p.Lys8792Ter) c.25999A>T (p.Lys8667Ter) c.53194A>T (p.Lys17732Ter) c.48271A>T (p.Lys16091Ter) n.683-673T>A c.52291A>T (p.Lys17431Ter) c.26185A>T (p.Lys8729Ter) c.26044A>T (p.Lys8682Ter) c.52087A>T (p.Lys17363Ter) c.47485A>T (p.Lys15829Ter) c.47482A>T (p.Lys15828Ter) c.44524A>T (p.Lys14842Ter) c.26140A>T (p.Lys8714Ter) c.47635A>T (p.Lys15879Ter) c.47632A>T (p.Lys15878Ter) c.47065A>T (p.Lys15689Ter) c.44407A>T (p.Lys14803Ter) c.44326A>T (p.Lys14776Ter) c.26089A>T (p.Lys8697Ter) c.15943A>T (p.Lys5315Ter) | |
| 2 | g.178607494T>C | CA349567510 | TTN,TTN-AS1 | c.45490A>G (p.Lys15164Glu) c.26575A>G (p.Lys8859Glu) c.26374A>G (p.Lys8792Glu) c.25999A>G (p.Lys8667Glu) c.53194A>G (p.Lys17732Glu) c.48271A>G (p.Lys16091Glu) n.683-673T>C c.52291A>G (p.Lys17431Glu) c.26185A>G (p.Lys8729Glu) c.26044A>G (p.Lys8682Glu) c.52087A>G (p.Lys17363Glu) c.47485A>G (p.Lys15829Glu) c.47482A>G (p.Lys15828Glu) c.44524A>G (p.Lys14842Glu) c.26140A>G (p.Lys8714Glu) c.47635A>G (p.Lys15879Glu) c.47632A>G (p.Lys15878Glu) c.47065A>G (p.Lys15689Glu) c.44407A>G (p.Lys14803Glu) c.44326A>G (p.Lys14776Glu) c.26089A>G (p.Lys8697Glu) c.15943A>G (p.Lys5315Glu) | |
| 2 | g.178607494T>G | CA349567515 | TTN,TTN-AS1 | c.45490A>C (p.Lys15164Gln) c.26575A>C (p.Lys8859Gln) c.26374A>C (p.Lys8792Gln) c.25999A>C (p.Lys8667Gln) c.53194A>C (p.Lys17732Gln) c.48271A>C (p.Lys16091Gln) n.683-673T>G c.52291A>C (p.Lys17431Gln) c.26185A>C (p.Lys8729Gln) c.26044A>C (p.Lys8682Gln) c.52087A>C (p.Lys17363Gln) c.47485A>C (p.Lys15829Gln) c.47482A>C (p.Lys15828Gln) c.44524A>C (p.Lys14842Gln) c.26140A>C (p.Lys8714Gln) c.47635A>C (p.Lys15879Gln) c.47632A>C (p.Lys15878Gln) c.47065A>C (p.Lys15689Gln) c.44407A>C (p.Lys14803Gln) c.44326A>C (p.Lys14776Gln) c.26089A>C (p.Lys8697Gln) c.15943A>C (p.Lys5315Gln) | |
| 2 | g.178607495G>A | CA430270567 | TTN,TTN-AS1 | c.45489C>T (p.Ile15163=) c.26574C>T (p.Ile8858=) c.26373C>T (p.Ile8791=) c.25998C>T (p.Ile8666=) c.53193C>T (p.Ile17731=) c.48270C>T (p.Ile16090=) n.683-672G>A c.52290C>T (p.Ile17430=) c.26184C>T (p.Ile8728=) c.26043C>T (p.Ile8681=) c.52086C>T (p.Ile17362=) c.47484C>T (p.Ile15828=) c.47481C>T (p.Ile15827=) c.44523C>T (p.Ile14841=) c.26139C>T (p.Ile8713=) c.47634C>T (p.Ile15878=) c.47631C>T (p.Ile15877=) c.47064C>T (p.Ile15688=) c.44406C>T (p.Ile14802=) c.44325C>T (p.Ile14775=) c.26088C>T (p.Ile8696=) c.15942C>T (p.Ile5314=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.178607495G>C | CA349567519 | TTN,TTN-AS1 | c.45489C>G (p.Ile15163Met) c.26574C>G (p.Ile8858Met) c.26373C>G (p.Ile8791Met) c.25998C>G (p.Ile8666Met) c.53193C>G (p.Ile17731Met) c.48270C>G (p.Ile16090Met) n.683-672G>C c.52290C>G (p.Ile17430Met) c.26184C>G (p.Ile8728Met) c.26043C>G (p.Ile8681Met) c.52086C>G (p.Ile17362Met) c.47484C>G (p.Ile15828Met) c.47481C>G (p.Ile15827Met) c.44523C>G (p.Ile14841Met) c.26139C>G (p.Ile8713Met) c.47634C>G (p.Ile15878Met) c.47631C>G (p.Ile15877Met) c.47064C>G (p.Ile15688Met) c.44406C>G (p.Ile14802Met) c.44325C>G (p.Ile14775Met) c.26088C>G (p.Ile8696Met) c.15942C>G (p.Ile5314Met) | |
| 2 | g.178607495G= | CA1310546584 | TTN,TTN-AS1 | c.45489C= (p.Ile15163=) c.26574C= (p.Ile8858=) c.26373C= (p.Ile8791=) c.25998C= (p.Ile8666=) c.53193C= (p.Ile17731=) c.48270C= (p.Ile16090=) n.683-672G= c.52290C= (p.Ile17430=) c.26184C= (p.Ile8728=) c.26043C= (p.Ile8681=) c.52086C= (p.Ile17362=) c.47484C= (p.Ile15828=) c.47481C= (p.Ile15827=) c.44523C= (p.Ile14841=) c.26139C= (p.Ile8713=) c.47634C= (p.Ile15878=) c.47631C= (p.Ile15877=) c.47064C= (p.Ile15688=) c.44406C= (p.Ile14802=) c.44325C= (p.Ile14775=) c.26088C= (p.Ile8696=) c.15942C= (p.Ile5314=) | |
| 2 | g.178607495G>T | CA430270568 | TTN,TTN-AS1 | c.45489C>A (p.Ile15163=) c.26574C>A (p.Ile8858=) c.26373C>A (p.Ile8791=) c.25998C>A (p.Ile8666=) c.53193C>A (p.Ile17731=) c.48270C>A (p.Ile16090=) n.683-672G>T c.52290C>A (p.Ile17430=) c.26184C>A (p.Ile8728=) c.26043C>A (p.Ile8681=) c.52086C>A (p.Ile17362=) c.47484C>A (p.Ile15828=) c.47481C>A (p.Ile15827=) c.44523C>A (p.Ile14841=) c.26139C>A (p.Ile8713=) c.47634C>A (p.Ile15878=) c.47631C>A (p.Ile15877=) c.47064C>A (p.Ile15688=) c.44406C>A (p.Ile14802=) c.44325C>A (p.Ile14775=) c.26088C>A (p.Ile8696=) c.15942C>A (p.Ile5314=) | |
| 2 | g.178607496A= | CA1310546585 | TTN,TTN-AS1 | c.45488T= (p.Ile15163=) c.26573T= (p.Ile8858=) c.26372T= (p.Ile8791=) c.25997T= (p.Ile8666=) c.53192T= (p.Ile17731=) c.48269T= (p.Ile16090=) n.683-671A= c.52289T= (p.Ile17430=) c.26183T= (p.Ile8728=) c.26042T= (p.Ile8681=) c.52085T= (p.Ile17362=) c.47483T= (p.Ile15828=) c.47480T= (p.Ile15827=) c.44522T= (p.Ile14841=) c.26138T= (p.Ile8713=) c.47633T= (p.Ile15878=) c.47630T= (p.Ile15877=) c.47063T= (p.Ile15688=) c.44405T= (p.Ile14802=) c.44324T= (p.Ile14775=) c.26087T= (p.Ile8696=) c.15941T= (p.Ile5314=) | |
| 2 | g.178607496A>C | CA349567528 | TTN,TTN-AS1 | c.45488T>G (p.Ile15163Ser) c.26573T>G (p.Ile8858Ser) c.26372T>G (p.Ile8791Ser) c.25997T>G (p.Ile8666Ser) c.53192T>G (p.Ile17731Ser) c.48269T>G (p.Ile16090Ser) n.683-671A>C c.52289T>G (p.Ile17430Ser) c.26183T>G (p.Ile8728Ser) c.26042T>G (p.Ile8681Ser) c.52085T>G (p.Ile17362Ser) c.47483T>G (p.Ile15828Ser) c.47480T>G (p.Ile15827Ser) c.44522T>G (p.Ile14841Ser) c.26138T>G (p.Ile8713Ser) c.47633T>G (p.Ile15878Ser) c.47630T>G (p.Ile15877Ser) c.47063T>G (p.Ile15688Ser) c.44405T>G (p.Ile14802Ser) c.44324T>G (p.Ile14775Ser) c.26087T>G (p.Ile8696Ser) c.15941T>G (p.Ile5314Ser) | |
| 2 | g.178607496A>G | CA283424 | TTN,TTN-AS1 | c.45488T>C (p.Ile15163Thr) c.26573T>C (p.Ile8858Thr) c.26372T>C (p.Ile8791Thr) c.25997T>C (p.Ile8666Thr) c.53192T>C (p.Ile17731Thr) c.48269T>C (p.Ile16090Thr) n.683-671A>G c.52289T>C (p.Ile17430Thr) c.26183T>C (p.Ile8728Thr) c.26042T>C (p.Ile8681Thr) c.52085T>C (p.Ile17362Thr) c.47483T>C (p.Ile15828Thr) c.47480T>C (p.Ile15827Thr) c.44522T>C (p.Ile14841Thr) c.26138T>C (p.Ile8713Thr) c.47633T>C (p.Ile15878Thr) c.47630T>C (p.Ile15877Thr) c.47063T>C (p.Ile15688Thr) c.44405T>C (p.Ile14802Thr) c.44324T>C (p.Ile14775Thr) c.26087T>C (p.Ile8696Thr) c.15941T>C (p.Ile5314Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.178607496A>T | CA60982532 | TTN,TTN-AS1 | c.45488T>A (p.Ile15163Asn) c.26573T>A (p.Ile8858Asn) c.26372T>A (p.Ile8791Asn) c.25997T>A (p.Ile8666Asn) c.53192T>A (p.Ile17731Asn) c.48269T>A (p.Ile16090Asn) n.683-671A>T c.52289T>A (p.Ile17430Asn) c.26183T>A (p.Ile8728Asn) c.26042T>A (p.Ile8681Asn) c.52085T>A (p.Ile17362Asn) c.47483T>A (p.Ile15828Asn) c.47480T>A (p.Ile15827Asn) c.44522T>A (p.Ile14841Asn) c.26138T>A (p.Ile8713Asn) c.47633T>A (p.Ile15878Asn) c.47630T>A (p.Ile15877Asn) c.47063T>A (p.Ile15688Asn) c.44405T>A (p.Ile14802Asn) c.44324T>A (p.Ile14775Asn) c.26087T>A (p.Ile8696Asn) c.15941T>A (p.Ile5314Asn) | dbSNP gnomAD v2 gnomAD v4 |