| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.178570540T>A | CA349621713 | TTN,TTN-AS1 | c.67888A>T (p.Asn22630Tyr) c.48973A>T (p.Asn16325Tyr) c.48772A>T (p.Asn16258Tyr) c.48397A>T (p.Asn16133Tyr) c.75592A>T (p.Asn25198Tyr) c.70669A>T (p.Asn23557Tyr) n.447-760T>A n.2044-12032T>A c.74689A>T (p.Asn24897Tyr) c.48583A>T (p.Asn16195Tyr) c.48442A>T (p.Asn16148Tyr) c.74485A>T (p.Asn24829Tyr) c.69883A>T (p.Asn23295Tyr) c.69880A>T (p.Asn23294Tyr) c.66922A>T (p.Asn22308Tyr) c.48538A>T (p.Asn16180Tyr) c.70033A>T (p.Asn23345Tyr) c.70030A>T (p.Asn23344Tyr) c.69463A>T (p.Asn23155Tyr) c.66805A>T (p.Asn22269Tyr) c.66724A>T (p.Asn22242Tyr) c.48487A>T (p.Asn16163Tyr) c.38341A>T (p.Asn12781Tyr) | |
| 2 | g.178570540T>C | CA349621715 | TTN,TTN-AS1 | c.67888A>G (p.Asn22630Asp) c.48973A>G (p.Asn16325Asp) c.48772A>G (p.Asn16258Asp) c.48397A>G (p.Asn16133Asp) c.75592A>G (p.Asn25198Asp) c.70669A>G (p.Asn23557Asp) n.447-760T>C n.2044-12032T>C c.74689A>G (p.Asn24897Asp) c.48583A>G (p.Asn16195Asp) c.48442A>G (p.Asn16148Asp) c.74485A>G (p.Asn24829Asp) c.69883A>G (p.Asn23295Asp) c.69880A>G (p.Asn23294Asp) c.66922A>G (p.Asn22308Asp) c.48538A>G (p.Asn16180Asp) c.70033A>G (p.Asn23345Asp) c.70030A>G (p.Asn23344Asp) c.69463A>G (p.Asn23155Asp) c.66805A>G (p.Asn22269Asp) c.66724A>G (p.Asn22242Asp) c.48487A>G (p.Asn16163Asp) c.38341A>G (p.Asn12781Asp) | |
| 2 | g.178570540T>G | CA349621720 | TTN,TTN-AS1 | c.67888A>C (p.Asn22630His) c.48973A>C (p.Asn16325His) c.48772A>C (p.Asn16258His) c.48397A>C (p.Asn16133His) c.75592A>C (p.Asn25198His) c.70669A>C (p.Asn23557His) n.447-760T>G n.2044-12032T>G c.74689A>C (p.Asn24897His) c.48583A>C (p.Asn16195His) c.48442A>C (p.Asn16148His) c.74485A>C (p.Asn24829His) c.69883A>C (p.Asn23295His) c.69880A>C (p.Asn23294His) c.66922A>C (p.Asn22308His) c.48538A>C (p.Asn16180His) c.70033A>C (p.Asn23345His) c.70030A>C (p.Asn23344His) c.69463A>C (p.Asn23155His) c.66805A>C (p.Asn22269His) c.66724A>C (p.Asn22242His) c.48487A>C (p.Asn16163His) c.38341A>C (p.Asn12781His) | |
| 2 | g.178570541C>A | CA430254895 | TTN,TTN-AS1 | c.67887G>T (p.Val22629=) c.48972G>T (p.Val16324=) c.48771G>T (p.Val16257=) c.48396G>T (p.Val16132=) c.75591G>T (p.Val25197=) c.70668G>T (p.Val23556=) n.447-759C>A n.2044-12031C>A c.74688G>T (p.Val24896=) c.48582G>T (p.Val16194=) c.48441G>T (p.Val16147=) c.74484G>T (p.Val24828=) c.69882G>T (p.Val23294=) c.69879G>T (p.Val23293=) c.66921G>T (p.Val22307=) c.48537G>T (p.Val16179=) c.70032G>T (p.Val23344=) c.70029G>T (p.Val23343=) c.69462G>T (p.Val23154=) c.66804G>T (p.Val22268=) c.66723G>T (p.Val22241=) c.48486G>T (p.Val16162=) c.38340G>T (p.Val12780=) | |
| 2 | g.178570541C>G | CA430254894 | TTN,TTN-AS1 | c.67887G>C (p.Val22629=) c.48972G>C (p.Val16324=) c.48771G>C (p.Val16257=) c.48396G>C (p.Val16132=) c.75591G>C (p.Val25197=) c.70668G>C (p.Val23556=) n.447-759C>G n.2044-12031C>G c.74688G>C (p.Val24896=) c.48582G>C (p.Val16194=) c.48441G>C (p.Val16147=) c.74484G>C (p.Val24828=) c.69882G>C (p.Val23294=) c.69879G>C (p.Val23293=) c.66921G>C (p.Val22307=) c.48537G>C (p.Val16179=) c.70032G>C (p.Val23344=) c.70029G>C (p.Val23343=) c.69462G>C (p.Val23154=) c.66804G>C (p.Val22268=) c.66723G>C (p.Val22241=) c.48486G>C (p.Val16162=) c.38340G>C (p.Val12780=) | |
| 2 | g.178570541C>T | CA430254893 | TTN,TTN-AS1 | c.67887G>A (p.Val22629=) c.48972G>A (p.Val16324=) c.48771G>A (p.Val16257=) c.48396G>A (p.Val16132=) c.75591G>A (p.Val25197=) c.70668G>A (p.Val23556=) n.447-759C>T n.2044-12031C>T c.74688G>A (p.Val24896=) c.48582G>A (p.Val16194=) c.48441G>A (p.Val16147=) c.74484G>A (p.Val24828=) c.69882G>A (p.Val23294=) c.69879G>A (p.Val23293=) c.66921G>A (p.Val22307=) c.48537G>A (p.Val16179=) c.70032G>A (p.Val23344=) c.70029G>A (p.Val23343=) c.69462G>A (p.Val23154=) c.66804G>A (p.Val22268=) c.66723G>A (p.Val22241=) c.48486G>A (p.Val16162=) c.38340G>A (p.Val12780=) | gnomAD v3 gnomAD v4 |
| 2 | g.178570542A>C | CA349621727 | TTN,TTN-AS1 | c.67886T>G (p.Val22629Gly) c.48971T>G (p.Val16324Gly) c.48770T>G (p.Val16257Gly) c.48395T>G (p.Val16132Gly) c.75590T>G (p.Val25197Gly) c.70667T>G (p.Val23556Gly) n.447-758A>C n.2044-12030A>C c.74687T>G (p.Val24896Gly) c.48581T>G (p.Val16194Gly) c.48440T>G (p.Val16147Gly) c.74483T>G (p.Val24828Gly) c.69881T>G (p.Val23294Gly) c.69878T>G (p.Val23293Gly) c.66920T>G (p.Val22307Gly) c.48536T>G (p.Val16179Gly) c.70031T>G (p.Val23344Gly) c.70028T>G (p.Val23343Gly) c.69461T>G (p.Val23154Gly) c.66803T>G (p.Val22268Gly) c.66722T>G (p.Val22241Gly) c.48485T>G (p.Val16162Gly) c.38339T>G (p.Val12780Gly) | |
| 2 | g.178570542A>G | CA349621737 | TTN,TTN-AS1 | c.67886T>C (p.Val22629Ala) c.48971T>C (p.Val16324Ala) c.48770T>C (p.Val16257Ala) c.48395T>C (p.Val16132Ala) c.75590T>C (p.Val25197Ala) c.70667T>C (p.Val23556Ala) n.447-758A>G n.2044-12030A>G c.74687T>C (p.Val24896Ala) c.48581T>C (p.Val16194Ala) c.48440T>C (p.Val16147Ala) c.74483T>C (p.Val24828Ala) c.69881T>C (p.Val23294Ala) c.69878T>C (p.Val23293Ala) c.66920T>C (p.Val22307Ala) c.48536T>C (p.Val16179Ala) c.70031T>C (p.Val23344Ala) c.70028T>C (p.Val23343Ala) c.69461T>C (p.Val23154Ala) c.66803T>C (p.Val22268Ala) c.66722T>C (p.Val22241Ala) c.48485T>C (p.Val16162Ala) c.38339T>C (p.Val12780Ala) | |
| 2 | g.178570542A>T | CA349621738 | TTN,TTN-AS1 | c.67886T>A (p.Val22629Glu) c.48971T>A (p.Val16324Glu) c.48770T>A (p.Val16257Glu) c.48395T>A (p.Val16132Glu) c.75590T>A (p.Val25197Glu) c.70667T>A (p.Val23556Glu) n.447-758A>T n.2044-12030A>T c.74687T>A (p.Val24896Glu) c.48581T>A (p.Val16194Glu) c.48440T>A (p.Val16147Glu) c.74483T>A (p.Val24828Glu) c.69881T>A (p.Val23294Glu) c.69878T>A (p.Val23293Glu) c.66920T>A (p.Val22307Glu) c.48536T>A (p.Val16179Glu) c.70031T>A (p.Val23344Glu) c.70028T>A (p.Val23343Glu) c.69461T>A (p.Val23154Glu) c.66803T>A (p.Val22268Glu) c.66722T>A (p.Val22241Glu) c.48485T>A (p.Val16162Glu) c.38339T>A (p.Val12780Glu) | |
| 2 | g.178570543del | CA2586965220 | TTN,TTN-AS1 | c.67885del (p.Val22629Ter) c.48970del (p.Val16324Ter) c.48769del (p.Val16257Ter) c.48394del (p.Val16132Ter) c.75589del (p.Val25197Ter) c.70666del (p.Val23556Ter) n.447-757del n.2044-12029del c.74686del (p.Val24896Ter) c.48580del (p.Val16194Ter) c.48439del (p.Val16147Ter) c.74482del (p.Val24828Ter) c.69880del (p.Val23294Ter) c.69877del (p.Val23293Ter) c.66919del (p.Val22307Ter) c.48535del (p.Val16179Ter) c.70030del (p.Val23344Ter) c.70027del (p.Val23343Ter) c.69460del (p.Val23154Ter) c.66802del (p.Val22268Ter) c.66721del (p.Val22241Ter) c.48484del (p.Val16162Ter) c.38338del (p.Val12780Ter) | ClinVar |
| 2 | g.178570543C>A | CA349621744 | TTN,TTN-AS1 | c.67885G>T (p.Val22629Leu) c.48970G>T (p.Val16324Leu) c.48769G>T (p.Val16257Leu) c.48394G>T (p.Val16132Leu) c.75589G>T (p.Val25197Leu) c.70666G>T (p.Val23556Leu) n.447-757C>A n.2044-12029C>A c.74686G>T (p.Val24896Leu) c.48580G>T (p.Val16194Leu) c.48439G>T (p.Val16147Leu) c.74482G>T (p.Val24828Leu) c.69880G>T (p.Val23294Leu) c.69877G>T (p.Val23293Leu) c.66919G>T (p.Val22307Leu) c.48535G>T (p.Val16179Leu) c.70030G>T (p.Val23344Leu) c.70027G>T (p.Val23343Leu) c.69460G>T (p.Val23154Leu) c.66802G>T (p.Val22268Leu) c.66721G>T (p.Val22241Leu) c.48484G>T (p.Val16162Leu) c.38338G>T (p.Val12780Leu) | |
| 2 | g.178570543C= | CA1310531149 | TTN,TTN-AS1 | c.67885G= (p.Val22629=) c.48970G= (p.Val16324=) c.48769G= (p.Val16257=) c.48394G= (p.Val16132=) c.75589G= (p.Val25197=) c.70666G= (p.Val23556=) n.447-757C= n.2044-12029C= c.74686G= (p.Val24896=) c.48580G= (p.Val16194=) c.48439G= (p.Val16147=) c.74482G= (p.Val24828=) c.69880G= (p.Val23294=) c.69877G= (p.Val23293=) c.66919G= (p.Val22307=) c.48535G= (p.Val16179=) c.70030G= (p.Val23344=) c.70027G= (p.Val23343=) c.69460G= (p.Val23154=) c.66802G= (p.Val22268=) c.66721G= (p.Val22241=) c.48484G= (p.Val16162=) c.38338G= (p.Val12780=) | |
| 2 | g.178570543C>G | CA349621753 | TTN,TTN-AS1 | c.67885G>C (p.Val22629Leu) c.48970G>C (p.Val16324Leu) c.48769G>C (p.Val16257Leu) c.48394G>C (p.Val16132Leu) c.75589G>C (p.Val25197Leu) c.70666G>C (p.Val23556Leu) n.447-757C>G n.2044-12029C>G c.74686G>C (p.Val24896Leu) c.48580G>C (p.Val16194Leu) c.48439G>C (p.Val16147Leu) c.74482G>C (p.Val24828Leu) c.69880G>C (p.Val23294Leu) c.69877G>C (p.Val23293Leu) c.66919G>C (p.Val22307Leu) c.48535G>C (p.Val16179Leu) c.70030G>C (p.Val23344Leu) c.70027G>C (p.Val23343Leu) c.69460G>C (p.Val23154Leu) c.66802G>C (p.Val22268Leu) c.66721G>C (p.Val22241Leu) c.48484G>C (p.Val16162Leu) c.38338G>C (p.Val12780Leu) | |
| 2 | g.178570543C>T | CA1990021 | TTN,TTN-AS1 | c.67885G>A (p.Val22629Met) c.48970G>A (p.Val16324Met) c.48769G>A (p.Val16257Met) c.48394G>A (p.Val16132Met) c.75589G>A (p.Val25197Met) c.70666G>A (p.Val23556Met) n.447-757C>T n.2044-12029C>T c.74686G>A (p.Val24896Met) c.48580G>A (p.Val16194Met) c.48439G>A (p.Val16147Met) c.74482G>A (p.Val24828Met) c.69880G>A (p.Val23294Met) c.69877G>A (p.Val23293Met) c.66919G>A (p.Val22307Met) c.48535G>A (p.Val16179Met) c.70030G>A (p.Val23344Met) c.70027G>A (p.Val23343Met) c.69460G>A (p.Val23154Met) c.66802G>A (p.Val22268Met) c.66721G>A (p.Val22241Met) c.48484G>A (p.Val16162Met) c.38338G>A (p.Val12780Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.178570544A>C | CA430254896 | TTN,TTN-AS1 | c.67884T>G (p.Thr22628=) c.48969T>G (p.Thr16323=) c.48768T>G (p.Thr16256=) c.48393T>G (p.Thr16131=) c.75588T>G (p.Thr25196=) c.70665T>G (p.Thr23555=) n.447-756A>C n.2044-12028A>C c.74685T>G (p.Thr24895=) c.48579T>G (p.Thr16193=) c.48438T>G (p.Thr16146=) c.74481T>G (p.Thr24827=) c.69879T>G (p.Thr23293=) c.69876T>G (p.Thr23292=) c.66918T>G (p.Thr22306=) c.48534T>G (p.Thr16178=) c.70029T>G (p.Thr23343=) c.70026T>G (p.Thr23342=) c.69459T>G (p.Thr23153=) c.66801T>G (p.Thr22267=) c.66720T>G (p.Thr22240=) c.48483T>G (p.Thr16161=) c.38337T>G (p.Thr12779=) | |
| 2 | g.178570544A>G | CA430254897 | TTN,TTN-AS1 | c.67884T>C (p.Thr22628=) c.48969T>C (p.Thr16323=) c.48768T>C (p.Thr16256=) c.48393T>C (p.Thr16131=) c.75588T>C (p.Thr25196=) c.70665T>C (p.Thr23555=) n.447-756A>G n.2044-12028A>G c.74685T>C (p.Thr24895=) c.48579T>C (p.Thr16193=) c.48438T>C (p.Thr16146=) c.74481T>C (p.Thr24827=) c.69879T>C (p.Thr23293=) c.69876T>C (p.Thr23292=) c.66918T>C (p.Thr22306=) c.48534T>C (p.Thr16178=) c.70029T>C (p.Thr23343=) c.70026T>C (p.Thr23342=) c.69459T>C (p.Thr23153=) c.66801T>C (p.Thr22267=) c.66720T>C (p.Thr22240=) c.48483T>C (p.Thr16161=) c.38337T>C (p.Thr12779=) | gnomAD v4 |
| 2 | g.178570544A>T | CA430254898 | TTN,TTN-AS1 | c.67884T>A (p.Thr22628=) c.48969T>A (p.Thr16323=) c.48768T>A (p.Thr16256=) c.48393T>A (p.Thr16131=) c.75588T>A (p.Thr25196=) c.70665T>A (p.Thr23555=) n.447-756A>T n.2044-12028A>T c.74685T>A (p.Thr24895=) c.48579T>A (p.Thr16193=) c.48438T>A (p.Thr16146=) c.74481T>A (p.Thr24827=) c.69879T>A (p.Thr23293=) c.69876T>A (p.Thr23292=) c.66918T>A (p.Thr22306=) c.48534T>A (p.Thr16178=) c.70029T>A (p.Thr23343=) c.70026T>A (p.Thr23342=) c.69459T>A (p.Thr23153=) c.66801T>A (p.Thr22267=) c.66720T>A (p.Thr22240=) c.48483T>A (p.Thr16161=) c.38337T>A (p.Thr12779=) | |
| 2 | g.178570545G>A | CA349621760 | TTN,TTN-AS1 | c.67883C>T (p.Thr22628Ile) c.48968C>T (p.Thr16323Ile) c.48767C>T (p.Thr16256Ile) c.48392C>T (p.Thr16131Ile) c.75587C>T (p.Thr25196Ile) c.70664C>T (p.Thr23555Ile) n.447-755G>A n.2044-12027G>A c.74684C>T (p.Thr24895Ile) c.48578C>T (p.Thr16193Ile) c.48437C>T (p.Thr16146Ile) c.74480C>T (p.Thr24827Ile) c.69878C>T (p.Thr23293Ile) c.69875C>T (p.Thr23292Ile) c.66917C>T (p.Thr22306Ile) c.48533C>T (p.Thr16178Ile) c.70028C>T (p.Thr23343Ile) c.70025C>T (p.Thr23342Ile) c.69458C>T (p.Thr23153Ile) c.66800C>T (p.Thr22267Ile) c.66719C>T (p.Thr22240Ile) c.48482C>T (p.Thr16161Ile) c.38336C>T (p.Thr12779Ile) | |
| 2 | g.178570545G>C | CA349621761 | TTN,TTN-AS1 | c.67883C>G (p.Thr22628Ser) c.48968C>G (p.Thr16323Ser) c.48767C>G (p.Thr16256Ser) c.48392C>G (p.Thr16131Ser) c.75587C>G (p.Thr25196Ser) c.70664C>G (p.Thr23555Ser) n.447-755G>C n.2044-12027G>C c.74684C>G (p.Thr24895Ser) c.48578C>G (p.Thr16193Ser) c.48437C>G (p.Thr16146Ser) c.74480C>G (p.Thr24827Ser) c.69878C>G (p.Thr23293Ser) c.69875C>G (p.Thr23292Ser) c.66917C>G (p.Thr22306Ser) c.48533C>G (p.Thr16178Ser) c.70028C>G (p.Thr23343Ser) c.70025C>G (p.Thr23342Ser) c.69458C>G (p.Thr23153Ser) c.66800C>G (p.Thr22267Ser) c.66719C>G (p.Thr22240Ser) c.48482C>G (p.Thr16161Ser) c.38336C>G (p.Thr12779Ser) | |
| 2 | g.178570545G>T | CA349621763 | TTN,TTN-AS1 | c.67883C>A (p.Thr22628Asn) c.48968C>A (p.Thr16323Asn) c.48767C>A (p.Thr16256Asn) c.48392C>A (p.Thr16131Asn) c.75587C>A (p.Thr25196Asn) c.70664C>A (p.Thr23555Asn) n.447-755G>T n.2044-12027G>T c.74684C>A (p.Thr24895Asn) c.48578C>A (p.Thr16193Asn) c.48437C>A (p.Thr16146Asn) c.74480C>A (p.Thr24827Asn) c.69878C>A (p.Thr23293Asn) c.69875C>A (p.Thr23292Asn) c.66917C>A (p.Thr22306Asn) c.48533C>A (p.Thr16178Asn) c.70028C>A (p.Thr23343Asn) c.70025C>A (p.Thr23342Asn) c.69458C>A (p.Thr23153Asn) c.66800C>A (p.Thr22267Asn) c.66719C>A (p.Thr22240Asn) c.48482C>A (p.Thr16161Asn) c.38336C>A (p.Thr12779Asn) | |
| 2 | g.178570546T>A | CA349621781 | TTN,TTN-AS1 | c.67882A>T (p.Thr22628Ser) c.48967A>T (p.Thr16323Ser) c.48766A>T (p.Thr16256Ser) c.48391A>T (p.Thr16131Ser) c.75586A>T (p.Thr25196Ser) c.70663A>T (p.Thr23555Ser) n.447-754T>A n.2044-12026T>A c.74683A>T (p.Thr24895Ser) c.48577A>T (p.Thr16193Ser) c.48436A>T (p.Thr16146Ser) c.74479A>T (p.Thr24827Ser) c.69877A>T (p.Thr23293Ser) c.69874A>T (p.Thr23292Ser) c.66916A>T (p.Thr22306Ser) c.48532A>T (p.Thr16178Ser) c.70027A>T (p.Thr23343Ser) c.70024A>T (p.Thr23342Ser) c.69457A>T (p.Thr23153Ser) c.66799A>T (p.Thr22267Ser) c.66718A>T (p.Thr22240Ser) c.48481A>T (p.Thr16161Ser) c.38335A>T (p.Thr12779Ser) | |
| 2 | g.178570546T>C | CA349621774 | TTN,TTN-AS1 | c.67882A>G (p.Thr22628Ala) c.48967A>G (p.Thr16323Ala) c.48766A>G (p.Thr16256Ala) c.48391A>G (p.Thr16131Ala) c.75586A>G (p.Thr25196Ala) c.70663A>G (p.Thr23555Ala) n.447-754T>C n.2044-12026T>C c.74683A>G (p.Thr24895Ala) c.48577A>G (p.Thr16193Ala) c.48436A>G (p.Thr16146Ala) c.74479A>G (p.Thr24827Ala) c.69877A>G (p.Thr23293Ala) c.69874A>G (p.Thr23292Ala) c.66916A>G (p.Thr22306Ala) c.48532A>G (p.Thr16178Ala) c.70027A>G (p.Thr23343Ala) c.70024A>G (p.Thr23342Ala) c.69457A>G (p.Thr23153Ala) c.66799A>G (p.Thr22267Ala) c.66718A>G (p.Thr22240Ala) c.48481A>G (p.Thr16161Ala) c.38335A>G (p.Thr12779Ala) | COSMIC COSMIC COSMIC COSMIC |
| 2 | g.178570546T>G | CA349621779 | TTN,TTN-AS1 | c.67882A>C (p.Thr22628Pro) c.48967A>C (p.Thr16323Pro) c.48766A>C (p.Thr16256Pro) c.48391A>C (p.Thr16131Pro) c.75586A>C (p.Thr25196Pro) c.70663A>C (p.Thr23555Pro) n.447-754T>G n.2044-12026T>G c.74683A>C (p.Thr24895Pro) c.48577A>C (p.Thr16193Pro) c.48436A>C (p.Thr16146Pro) c.74479A>C (p.Thr24827Pro) c.69877A>C (p.Thr23293Pro) c.69874A>C (p.Thr23292Pro) c.66916A>C (p.Thr22306Pro) c.48532A>C (p.Thr16178Pro) c.70027A>C (p.Thr23343Pro) c.70024A>C (p.Thr23342Pro) c.69457A>C (p.Thr23153Pro) c.66799A>C (p.Thr22267Pro) c.66718A>C (p.Thr22240Pro) c.48481A>C (p.Thr16161Pro) c.38335A>C (p.Thr12779Pro) | |
| 2 | g.178570547A>C | CA430254901 | TTN,TTN-AS1 | c.67881T>G (p.Val22627=) c.48966T>G (p.Val16322=) c.48765T>G (p.Val16255=) c.48390T>G (p.Val16130=) c.75585T>G (p.Val25195=) c.70662T>G (p.Val23554=) n.447-753A>C n.2044-12025A>C c.74682T>G (p.Val24894=) c.48576T>G (p.Val16192=) c.48435T>G (p.Val16145=) c.74478T>G (p.Val24826=) c.69876T>G (p.Val23292=) c.69873T>G (p.Val23291=) c.66915T>G (p.Val22305=) c.48531T>G (p.Val16177=) c.70026T>G (p.Val23342=) c.70023T>G (p.Val23341=) c.69456T>G (p.Val23152=) c.66798T>G (p.Val22266=) c.66717T>G (p.Val22239=) c.48480T>G (p.Val16160=) c.38334T>G (p.Val12778=) | |
| 2 | g.178570547A>G | CA430254899 | TTN,TTN-AS1 | c.67881T>C (p.Val22627=) c.48966T>C (p.Val16322=) c.48765T>C (p.Val16255=) c.48390T>C (p.Val16130=) c.75585T>C (p.Val25195=) c.70662T>C (p.Val23554=) n.447-753A>G n.2044-12025A>G c.74682T>C (p.Val24894=) c.48576T>C (p.Val16192=) c.48435T>C (p.Val16145=) c.74478T>C (p.Val24826=) c.69876T>C (p.Val23292=) c.69873T>C (p.Val23291=) c.66915T>C (p.Val22305=) c.48531T>C (p.Val16177=) c.70026T>C (p.Val23342=) c.70023T>C (p.Val23341=) c.69456T>C (p.Val23152=) c.66798T>C (p.Val22266=) c.66717T>C (p.Val22239=) c.48480T>C (p.Val16160=) c.38334T>C (p.Val12778=) | |
| 2 | g.178570547A>T | CA430254900 | TTN,TTN-AS1 | c.67881T>A (p.Val22627=) c.48966T>A (p.Val16322=) c.48765T>A (p.Val16255=) c.48390T>A (p.Val16130=) c.75585T>A (p.Val25195=) c.70662T>A (p.Val23554=) n.447-753A>T n.2044-12025A>T c.74682T>A (p.Val24894=) c.48576T>A (p.Val16192=) c.48435T>A (p.Val16145=) c.74478T>A (p.Val24826=) c.69876T>A (p.Val23292=) c.69873T>A (p.Val23291=) c.66915T>A (p.Val22305=) c.48531T>A (p.Val16177=) c.70026T>A (p.Val23342=) c.70023T>A (p.Val23341=) c.69456T>A (p.Val23152=) c.66798T>A (p.Val22266=) c.66717T>A (p.Val22239=) c.48480T>A (p.Val16160=) c.38334T>A (p.Val12778=) | |
| 2 | g.178570548A>C | CA349621786 | TTN,TTN-AS1 | c.67880T>G (p.Val22627Gly) c.48965T>G (p.Val16322Gly) c.48764T>G (p.Val16255Gly) c.48389T>G (p.Val16130Gly) c.75584T>G (p.Val25195Gly) c.70661T>G (p.Val23554Gly) n.447-752A>C n.2044-12024A>C c.74681T>G (p.Val24894Gly) c.48575T>G (p.Val16192Gly) c.48434T>G (p.Val16145Gly) c.74477T>G (p.Val24826Gly) c.69875T>G (p.Val23292Gly) c.69872T>G (p.Val23291Gly) c.66914T>G (p.Val22305Gly) c.48530T>G (p.Val16177Gly) c.70025T>G (p.Val23342Gly) c.70022T>G (p.Val23341Gly) c.69455T>G (p.Val23152Gly) c.66797T>G (p.Val22266Gly) c.66716T>G (p.Val22239Gly) c.48479T>G (p.Val16160Gly) c.38333T>G (p.Val12778Gly) | |
| 2 | g.178570548A>G | CA349621790 | TTN,TTN-AS1 | c.67880T>C (p.Val22627Ala) c.48965T>C (p.Val16322Ala) c.48764T>C (p.Val16255Ala) c.48389T>C (p.Val16130Ala) c.75584T>C (p.Val25195Ala) c.70661T>C (p.Val23554Ala) n.447-752A>G n.2044-12024A>G c.74681T>C (p.Val24894Ala) c.48575T>C (p.Val16192Ala) c.48434T>C (p.Val16145Ala) c.74477T>C (p.Val24826Ala) c.69875T>C (p.Val23292Ala) c.69872T>C (p.Val23291Ala) c.66914T>C (p.Val22305Ala) c.48530T>C (p.Val16177Ala) c.70025T>C (p.Val23342Ala) c.70022T>C (p.Val23341Ala) c.69455T>C (p.Val23152Ala) c.66797T>C (p.Val22266Ala) c.66716T>C (p.Val22239Ala) c.48479T>C (p.Val16160Ala) c.38333T>C (p.Val12778Ala) | |
| 2 | g.178570548A>T | CA349621793 | TTN,TTN-AS1 | c.67880T>A (p.Val22627Asp) c.48965T>A (p.Val16322Asp) c.48764T>A (p.Val16255Asp) c.48389T>A (p.Val16130Asp) c.75584T>A (p.Val25195Asp) c.70661T>A (p.Val23554Asp) n.447-752A>T n.2044-12024A>T c.74681T>A (p.Val24894Asp) c.48575T>A (p.Val16192Asp) c.48434T>A (p.Val16145Asp) c.74477T>A (p.Val24826Asp) c.69875T>A (p.Val23292Asp) c.69872T>A (p.Val23291Asp) c.66914T>A (p.Val22305Asp) c.48530T>A (p.Val16177Asp) c.70025T>A (p.Val23342Asp) c.70022T>A (p.Val23341Asp) c.69455T>A (p.Val23152Asp) c.66797T>A (p.Val22266Asp) c.66716T>A (p.Val22239Asp) c.48479T>A (p.Val16160Asp) c.38333T>A (p.Val12778Asp) | |
| 2 | g.178570549C>A | CA349621800 | TTN,TTN-AS1 | c.67879G>T (p.Val22627Phe) c.48964G>T (p.Val16322Phe) c.48763G>T (p.Val16255Phe) c.48388G>T (p.Val16130Phe) c.75583G>T (p.Val25195Phe) c.70660G>T (p.Val23554Phe) n.447-751C>A n.2044-12023C>A c.74680G>T (p.Val24894Phe) c.48574G>T (p.Val16192Phe) c.48433G>T (p.Val16145Phe) c.74476G>T (p.Val24826Phe) c.69874G>T (p.Val23292Phe) c.69871G>T (p.Val23291Phe) c.66913G>T (p.Val22305Phe) c.48529G>T (p.Val16177Phe) c.70024G>T (p.Val23342Phe) c.70021G>T (p.Val23341Phe) c.69454G>T (p.Val23152Phe) c.66796G>T (p.Val22266Phe) c.66715G>T (p.Val22239Phe) c.48478G>T (p.Val16160Phe) c.38332G>T (p.Val12778Phe) | |
| 2 | g.178570549C>G | CA349621807 | TTN,TTN-AS1 | c.67879G>C (p.Val22627Leu) c.48964G>C (p.Val16322Leu) c.48763G>C (p.Val16255Leu) c.48388G>C (p.Val16130Leu) c.75583G>C (p.Val25195Leu) c.70660G>C (p.Val23554Leu) n.447-751C>G n.2044-12023C>G c.74680G>C (p.Val24894Leu) c.48574G>C (p.Val16192Leu) c.48433G>C (p.Val16145Leu) c.74476G>C (p.Val24826Leu) c.69874G>C (p.Val23292Leu) c.69871G>C (p.Val23291Leu) c.66913G>C (p.Val22305Leu) c.48529G>C (p.Val16177Leu) c.70024G>C (p.Val23342Leu) c.70021G>C (p.Val23341Leu) c.69454G>C (p.Val23152Leu) c.66796G>C (p.Val22266Leu) c.66715G>C (p.Val22239Leu) c.48478G>C (p.Val16160Leu) c.38332G>C (p.Val12778Leu) | |
| 2 | g.178570549C>T | CA349621809 | TTN,TTN-AS1 | c.67879G>A (p.Val22627Ile) c.48964G>A (p.Val16322Ile) c.48763G>A (p.Val16255Ile) c.48388G>A (p.Val16130Ile) c.75583G>A (p.Val25195Ile) c.70660G>A (p.Val23554Ile) n.447-751C>T n.2044-12023C>T c.74680G>A (p.Val24894Ile) c.48574G>A (p.Val16192Ile) c.48433G>A (p.Val16145Ile) c.74476G>A (p.Val24826Ile) c.69874G>A (p.Val23292Ile) c.69871G>A (p.Val23291Ile) c.66913G>A (p.Val22305Ile) c.48529G>A (p.Val16177Ile) c.70024G>A (p.Val23342Ile) c.70021G>A (p.Val23341Ile) c.69454G>A (p.Val23152Ile) c.66796G>A (p.Val22266Ile) c.66715G>A (p.Val22239Ile) c.48478G>A (p.Val16160Ile) c.38332G>A (p.Val12778Ile) | |
| 2 | g.178570550T>A | CA430254902 | TTN,TTN-AS1 | c.67878A>T (p.Ser22626=) c.48963A>T (p.Ser16321=) c.48762A>T (p.Ser16254=) c.48387A>T (p.Ser16129=) c.75582A>T (p.Ser25194=) c.70659A>T (p.Ser23553=) n.447-750T>A n.2044-12022T>A c.74679A>T (p.Ser24893=) c.48573A>T (p.Ser16191=) c.48432A>T (p.Ser16144=) c.74475A>T (p.Ser24825=) c.69873A>T (p.Ser23291=) c.69870A>T (p.Ser23290=) c.66912A>T (p.Ser22304=) c.48528A>T (p.Ser16176=) c.70023A>T (p.Ser23341=) c.70020A>T (p.Ser23340=) c.69453A>T (p.Ser23151=) c.66795A>T (p.Ser22265=) c.66714A>T (p.Ser22238=) c.48477A>T (p.Ser16159=) c.38331A>T (p.Ser12777=) | |
| 2 | g.178570550T>C | CA430254903 | TTN,TTN-AS1 | c.67878A>G (p.Ser22626=) c.48963A>G (p.Ser16321=) c.48762A>G (p.Ser16254=) c.48387A>G (p.Ser16129=) c.75582A>G (p.Ser25194=) c.70659A>G (p.Ser23553=) n.447-750T>C n.2044-12022T>C c.74679A>G (p.Ser24893=) c.48573A>G (p.Ser16191=) c.48432A>G (p.Ser16144=) c.74475A>G (p.Ser24825=) c.69873A>G (p.Ser23291=) c.69870A>G (p.Ser23290=) c.66912A>G (p.Ser22304=) c.48528A>G (p.Ser16176=) c.70023A>G (p.Ser23341=) c.70020A>G (p.Ser23340=) c.69453A>G (p.Ser23151=) c.66795A>G (p.Ser22265=) c.66714A>G (p.Ser22238=) c.48477A>G (p.Ser16159=) c.38331A>G (p.Ser12777=) | |
| 2 | g.178570550T>G | CA430254904 | TTN,TTN-AS1 | c.67878A>C (p.Ser22626=) c.48963A>C (p.Ser16321=) c.48762A>C (p.Ser16254=) c.48387A>C (p.Ser16129=) c.75582A>C (p.Ser25194=) c.70659A>C (p.Ser23553=) n.447-750T>G n.2044-12022T>G c.74679A>C (p.Ser24893=) c.48573A>C (p.Ser16191=) c.48432A>C (p.Ser16144=) c.74475A>C (p.Ser24825=) c.69873A>C (p.Ser23291=) c.69870A>C (p.Ser23290=) c.66912A>C (p.Ser22304=) c.48528A>C (p.Ser16176=) c.70023A>C (p.Ser23341=) c.70020A>C (p.Ser23340=) c.69453A>C (p.Ser23151=) c.66795A>C (p.Ser22265=) c.66714A>C (p.Ser22238=) c.48477A>C (p.Ser16159=) c.38331A>C (p.Ser12777=) | |
| 2 | g.178570551G>A | CA349621812 | TTN,TTN-AS1 | c.67877C>T (p.Ser22626Leu) c.48962C>T (p.Ser16321Leu) c.48761C>T (p.Ser16254Leu) c.48386C>T (p.Ser16129Leu) c.75581C>T (p.Ser25194Leu) c.70658C>T (p.Ser23553Leu) n.447-749G>A n.2044-12021G>A c.74678C>T (p.Ser24893Leu) c.48572C>T (p.Ser16191Leu) c.48431C>T (p.Ser16144Leu) c.74474C>T (p.Ser24825Leu) c.69872C>T (p.Ser23291Leu) c.69869C>T (p.Ser23290Leu) c.66911C>T (p.Ser22304Leu) c.48527C>T (p.Ser16176Leu) c.70022C>T (p.Ser23341Leu) c.70019C>T (p.Ser23340Leu) c.69452C>T (p.Ser23151Leu) c.66794C>T (p.Ser22265Leu) c.66713C>T (p.Ser22238Leu) c.48476C>T (p.Ser16159Leu) c.38330C>T (p.Ser12777Leu) | ClinVar |
| 2 | g.178570551G>C | CA349621815 | TTN,TTN-AS1 | c.67877C>G (p.Ser22626Ter) c.48962C>G (p.Ser16321Ter) c.48761C>G (p.Ser16254Ter) c.48386C>G (p.Ser16129Ter) c.75581C>G (p.Ser25194Ter) c.70658C>G (p.Ser23553Ter) n.447-749G>C n.2044-12021G>C c.74678C>G (p.Ser24893Ter) c.48572C>G (p.Ser16191Ter) c.48431C>G (p.Ser16144Ter) c.74474C>G (p.Ser24825Ter) c.69872C>G (p.Ser23291Ter) c.69869C>G (p.Ser23290Ter) c.66911C>G (p.Ser22304Ter) c.48527C>G (p.Ser16176Ter) c.70022C>G (p.Ser23341Ter) c.70019C>G (p.Ser23340Ter) c.69452C>G (p.Ser23151Ter) c.66794C>G (p.Ser22265Ter) c.66713C>G (p.Ser22238Ter) c.48476C>G (p.Ser16159Ter) c.38330C>G (p.Ser12777Ter) | |
| 2 | g.178570551G>T | CA349621816 | TTN,TTN-AS1 | c.67877C>A (p.Ser22626Ter) c.48962C>A (p.Ser16321Ter) c.48761C>A (p.Ser16254Ter) c.48386C>A (p.Ser16129Ter) c.75581C>A (p.Ser25194Ter) c.70658C>A (p.Ser23553Ter) n.447-749G>T n.2044-12021G>T c.74678C>A (p.Ser24893Ter) c.48572C>A (p.Ser16191Ter) c.48431C>A (p.Ser16144Ter) c.74474C>A (p.Ser24825Ter) c.69872C>A (p.Ser23291Ter) c.69869C>A (p.Ser23290Ter) c.66911C>A (p.Ser22304Ter) c.48527C>A (p.Ser16176Ter) c.70022C>A (p.Ser23341Ter) c.70019C>A (p.Ser23340Ter) c.69452C>A (p.Ser23151Ter) c.66794C>A (p.Ser22265Ter) c.66713C>A (p.Ser22238Ter) c.48476C>A (p.Ser16159Ter) c.38330C>A (p.Ser12777Ter) | |
| 2 | g.178570552A>C | CA349621822 | TTN,TTN-AS1 | c.67876T>G (p.Ser22626Ala) c.48961T>G (p.Ser16321Ala) c.48760T>G (p.Ser16254Ala) c.48385T>G (p.Ser16129Ala) c.75580T>G (p.Ser25194Ala) c.70657T>G (p.Ser23553Ala) n.447-748A>C n.2044-12020A>C c.74677T>G (p.Ser24893Ala) c.48571T>G (p.Ser16191Ala) c.48430T>G (p.Ser16144Ala) c.74473T>G (p.Ser24825Ala) c.69871T>G (p.Ser23291Ala) c.69868T>G (p.Ser23290Ala) c.66910T>G (p.Ser22304Ala) c.48526T>G (p.Ser16176Ala) c.70021T>G (p.Ser23341Ala) c.70018T>G (p.Ser23340Ala) c.69451T>G (p.Ser23151Ala) c.66793T>G (p.Ser22265Ala) c.66712T>G (p.Ser22238Ala) c.48475T>G (p.Ser16159Ala) c.38329T>G (p.Ser12777Ala) | |
| 2 | g.178570552A>G | CA349621825 | TTN,TTN-AS1 | c.67876T>C (p.Ser22626Pro) c.48961T>C (p.Ser16321Pro) c.48760T>C (p.Ser16254Pro) c.48385T>C (p.Ser16129Pro) c.75580T>C (p.Ser25194Pro) c.70657T>C (p.Ser23553Pro) n.447-748A>G n.2044-12020A>G c.74677T>C (p.Ser24893Pro) c.48571T>C (p.Ser16191Pro) c.48430T>C (p.Ser16144Pro) c.74473T>C (p.Ser24825Pro) c.69871T>C (p.Ser23291Pro) c.69868T>C (p.Ser23290Pro) c.66910T>C (p.Ser22304Pro) c.48526T>C (p.Ser16176Pro) c.70021T>C (p.Ser23341Pro) c.70018T>C (p.Ser23340Pro) c.69451T>C (p.Ser23151Pro) c.66793T>C (p.Ser22265Pro) c.66712T>C (p.Ser22238Pro) c.48475T>C (p.Ser16159Pro) c.38329T>C (p.Ser12777Pro) | |
| 2 | g.178570552A>T | CA349621827 | TTN,TTN-AS1 | c.67876T>A (p.Ser22626Thr) c.48961T>A (p.Ser16321Thr) c.48760T>A (p.Ser16254Thr) c.48385T>A (p.Ser16129Thr) c.75580T>A (p.Ser25194Thr) c.70657T>A (p.Ser23553Thr) n.447-748A>T n.2044-12020A>T c.74677T>A (p.Ser24893Thr) c.48571T>A (p.Ser16191Thr) c.48430T>A (p.Ser16144Thr) c.74473T>A (p.Ser24825Thr) c.69871T>A (p.Ser23291Thr) c.69868T>A (p.Ser23290Thr) c.66910T>A (p.Ser22304Thr) c.48526T>A (p.Ser16176Thr) c.70021T>A (p.Ser23341Thr) c.70018T>A (p.Ser23340Thr) c.69451T>A (p.Ser23151Thr) c.66793T>A (p.Ser22265Thr) c.66712T>A (p.Ser22238Thr) c.48475T>A (p.Ser16159Thr) c.38329T>A (p.Ser12777Thr) | |
| 2 | g.178570553T>A | CA349621842 | TTN,TTN-AS1 | c.67875A>T (p.Arg22625Ser) c.48960A>T (p.Arg16320Ser) c.48759A>T (p.Arg16253Ser) c.48384A>T (p.Arg16128Ser) c.75579A>T (p.Arg25193Ser) c.70656A>T (p.Arg23552Ser) n.447-747T>A n.2044-12019T>A c.74676A>T (p.Arg24892Ser) c.48570A>T (p.Arg16190Ser) c.48429A>T (p.Arg16143Ser) c.74472A>T (p.Arg24824Ser) c.69870A>T (p.Arg23290Ser) c.69867A>T (p.Arg23289Ser) c.66909A>T (p.Arg22303Ser) c.48525A>T (p.Arg16175Ser) c.70020A>T (p.Arg23340Ser) c.70017A>T (p.Arg23339Ser) c.69450A>T (p.Arg23150Ser) c.66792A>T (p.Arg22264Ser) c.66711A>T (p.Arg22237Ser) c.48474A>T (p.Arg16158Ser) c.38328A>T (p.Arg12776Ser) | gnomAD v4 |
| 2 | g.178570553T>C | CA430254905 | TTN,TTN-AS1 | c.67875A>G (p.Arg22625=) c.48960A>G (p.Arg16320=) c.48759A>G (p.Arg16253=) c.48384A>G (p.Arg16128=) c.75579A>G (p.Arg25193=) c.70656A>G (p.Arg23552=) n.447-747T>C n.2044-12019T>C c.74676A>G (p.Arg24892=) c.48570A>G (p.Arg16190=) c.48429A>G (p.Arg16143=) c.74472A>G (p.Arg24824=) c.69870A>G (p.Arg23290=) c.69867A>G (p.Arg23289=) c.66909A>G (p.Arg22303=) c.48525A>G (p.Arg16175=) c.70020A>G (p.Arg23340=) c.70017A>G (p.Arg23339=) c.69450A>G (p.Arg23150=) c.66792A>G (p.Arg22264=) c.66711A>G (p.Arg22237=) c.48474A>G (p.Arg16158=) c.38328A>G (p.Arg12776=) | |
| 2 | g.178570553T>G | CA349621840 | TTN,TTN-AS1 | c.67875A>C (p.Arg22625Ser) c.48960A>C (p.Arg16320Ser) c.48759A>C (p.Arg16253Ser) c.48384A>C (p.Arg16128Ser) c.75579A>C (p.Arg25193Ser) c.70656A>C (p.Arg23552Ser) n.447-747T>G n.2044-12019T>G c.74676A>C (p.Arg24892Ser) c.48570A>C (p.Arg16190Ser) c.48429A>C (p.Arg16143Ser) c.74472A>C (p.Arg24824Ser) c.69870A>C (p.Arg23290Ser) c.69867A>C (p.Arg23289Ser) c.66909A>C (p.Arg22303Ser) c.48525A>C (p.Arg16175Ser) c.70020A>C (p.Arg23340Ser) c.70017A>C (p.Arg23339Ser) c.69450A>C (p.Arg23150Ser) c.66792A>C (p.Arg22264Ser) c.66711A>C (p.Arg22237Ser) c.48474A>C (p.Arg16158Ser) c.38328A>C (p.Arg12776Ser) | |
| 2 | g.178570554C>A | CA349621853 | TTN,TTN-AS1 | c.67874G>T (p.Arg22625Ile) c.48959G>T (p.Arg16320Ile) c.48758G>T (p.Arg16253Ile) c.48383G>T (p.Arg16128Ile) c.75578G>T (p.Arg25193Ile) c.70655G>T (p.Arg23552Ile) n.447-746C>A n.2044-12018C>A c.74675G>T (p.Arg24892Ile) c.48569G>T (p.Arg16190Ile) c.48428G>T (p.Arg16143Ile) c.74471G>T (p.Arg24824Ile) c.69869G>T (p.Arg23290Ile) c.69866G>T (p.Arg23289Ile) c.66908G>T (p.Arg22303Ile) c.48524G>T (p.Arg16175Ile) c.70019G>T (p.Arg23340Ile) c.70016G>T (p.Arg23339Ile) c.69449G>T (p.Arg23150Ile) c.66791G>T (p.Arg22264Ile) c.66710G>T (p.Arg22237Ile) c.48473G>T (p.Arg16158Ile) c.38327G>T (p.Arg12776Ile) | |
| 2 | g.178570554C>G | CA349621855 | TTN,TTN-AS1 | c.67874G>C (p.Arg22625Thr) c.48959G>C (p.Arg16320Thr) c.48758G>C (p.Arg16253Thr) c.48383G>C (p.Arg16128Thr) c.75578G>C (p.Arg25193Thr) c.70655G>C (p.Arg23552Thr) n.447-746C>G n.2044-12018C>G c.74675G>C (p.Arg24892Thr) c.48569G>C (p.Arg16190Thr) c.48428G>C (p.Arg16143Thr) c.74471G>C (p.Arg24824Thr) c.69869G>C (p.Arg23290Thr) c.69866G>C (p.Arg23289Thr) c.66908G>C (p.Arg22303Thr) c.48524G>C (p.Arg16175Thr) c.70019G>C (p.Arg23340Thr) c.70016G>C (p.Arg23339Thr) c.69449G>C (p.Arg23150Thr) c.66791G>C (p.Arg22264Thr) c.66710G>C (p.Arg22237Thr) c.48473G>C (p.Arg16158Thr) c.38327G>C (p.Arg12776Thr) | |
| 2 | g.178570554C>T | CA349621854 | TTN,TTN-AS1 | c.67874G>A (p.Arg22625Lys) c.48959G>A (p.Arg16320Lys) c.48758G>A (p.Arg16253Lys) c.48383G>A (p.Arg16128Lys) c.75578G>A (p.Arg25193Lys) c.70655G>A (p.Arg23552Lys) n.447-746C>T n.2044-12018C>T c.74675G>A (p.Arg24892Lys) c.48569G>A (p.Arg16190Lys) c.48428G>A (p.Arg16143Lys) c.74471G>A (p.Arg24824Lys) c.69869G>A (p.Arg23290Lys) c.69866G>A (p.Arg23289Lys) c.66908G>A (p.Arg22303Lys) c.48524G>A (p.Arg16175Lys) c.70019G>A (p.Arg23340Lys) c.70016G>A (p.Arg23339Lys) c.69449G>A (p.Arg23150Lys) c.66791G>A (p.Arg22264Lys) c.66710G>A (p.Arg22237Lys) c.48473G>A (p.Arg16158Lys) c.38327G>A (p.Arg12776Lys) | |
| 2 | g.178570555T>A | CA349621856 | TTN,TTN-AS1 | c.67873A>T (p.Arg22625Ter) c.48958A>T (p.Arg16320Ter) c.48757A>T (p.Arg16253Ter) c.48382A>T (p.Arg16128Ter) c.75577A>T (p.Arg25193Ter) c.70654A>T (p.Arg23552Ter) n.447-745T>A n.2044-12017T>A c.74674A>T (p.Arg24892Ter) c.48568A>T (p.Arg16190Ter) c.48427A>T (p.Arg16143Ter) c.74470A>T (p.Arg24824Ter) c.69868A>T (p.Arg23290Ter) c.69865A>T (p.Arg23289Ter) c.66907A>T (p.Arg22303Ter) c.48523A>T (p.Arg16175Ter) c.70018A>T (p.Arg23340Ter) c.70015A>T (p.Arg23339Ter) c.69448A>T (p.Arg23150Ter) c.66790A>T (p.Arg22264Ter) c.66709A>T (p.Arg22237Ter) c.48472A>T (p.Arg16158Ter) c.38326A>T (p.Arg12776Ter) | |
| 2 | g.178570555T>C | CA349621858 | TTN,TTN-AS1 | c.67873A>G (p.Arg22625Gly) c.48958A>G (p.Arg16320Gly) c.48757A>G (p.Arg16253Gly) c.48382A>G (p.Arg16128Gly) c.75577A>G (p.Arg25193Gly) c.70654A>G (p.Arg23552Gly) n.447-745T>C n.2044-12017T>C c.74674A>G (p.Arg24892Gly) c.48568A>G (p.Arg16190Gly) c.48427A>G (p.Arg16143Gly) c.74470A>G (p.Arg24824Gly) c.69868A>G (p.Arg23290Gly) c.69865A>G (p.Arg23289Gly) c.66907A>G (p.Arg22303Gly) c.48523A>G (p.Arg16175Gly) c.70018A>G (p.Arg23340Gly) c.70015A>G (p.Arg23339Gly) c.69448A>G (p.Arg23150Gly) c.66790A>G (p.Arg22264Gly) c.66709A>G (p.Arg22237Gly) c.48472A>G (p.Arg16158Gly) c.38326A>G (p.Arg12776Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.178570555T>G | CA430254906 | TTN,TTN-AS1 | c.67873A>C (p.Arg22625=) c.48958A>C (p.Arg16320=) c.48757A>C (p.Arg16253=) c.48382A>C (p.Arg16128=) c.75577A>C (p.Arg25193=) c.70654A>C (p.Arg23552=) n.447-745T>G n.2044-12017T>G c.74674A>C (p.Arg24892=) c.48568A>C (p.Arg16190=) c.48427A>C (p.Arg16143=) c.74470A>C (p.Arg24824=) c.69868A>C (p.Arg23290=) c.69865A>C (p.Arg23289=) c.66907A>C (p.Arg22303=) c.48523A>C (p.Arg16175=) c.70018A>C (p.Arg23340=) c.70015A>C (p.Arg23339=) c.69448A>C (p.Arg23150=) c.66790A>C (p.Arg22264=) c.66709A>C (p.Arg22237=) c.48472A>C (p.Arg16158=) c.38326A>C (p.Arg12776=) |