| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.178567283T>A | CA430253040 | TTN,TTN-AS1 | c.71145A>T (p.Val23715=) c.52230A>T (p.Val17410=) c.52029A>T (p.Val17343=) c.51654A>T (p.Val17218=) c.78849A>T (p.Val26283=) c.73926A>T (p.Val24642=) n.447-4017T>A n.2044-15289T>A c.77946A>T (p.Val25982=) c.51840A>T (p.Val17280=) c.51699A>T (p.Val17233=) c.77742A>T (p.Val25914=) c.73140A>T (p.Val24380=) c.73137A>T (p.Val24379=) c.70179A>T (p.Val23393=) c.51795A>T (p.Val17265=) c.73290A>T (p.Val24430=) c.73287A>T (p.Val24429=) c.72720A>T (p.Val24240=) c.70062A>T (p.Val23354=) c.69981A>T (p.Val23327=) c.51744A>T (p.Val17248=) c.41598A>T (p.Val13866=) | |
| 2 | g.178567283T>C | CA60991080 | TTN,TTN-AS1 | c.71145A>G (p.Val23715=) c.52230A>G (p.Val17410=) c.52029A>G (p.Val17343=) c.51654A>G (p.Val17218=) c.78849A>G (p.Val26283=) c.73926A>G (p.Val24642=) n.447-4017T>C n.2044-15289T>C c.77946A>G (p.Val25982=) c.51840A>G (p.Val17280=) c.51699A>G (p.Val17233=) c.77742A>G (p.Val25914=) c.73140A>G (p.Val24380=) c.73137A>G (p.Val24379=) c.70179A>G (p.Val23393=) c.51795A>G (p.Val17265=) c.73290A>G (p.Val24430=) c.73287A>G (p.Val24429=) c.72720A>G (p.Val24240=) c.70062A>G (p.Val23354=) c.69981A>G (p.Val23327=) c.51744A>G (p.Val17248=) c.41598A>G (p.Val13866=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.178567283T>G | CA430253042 | TTN,TTN-AS1 | c.71145A>C (p.Val23715=) c.52230A>C (p.Val17410=) c.52029A>C (p.Val17343=) c.51654A>C (p.Val17218=) c.78849A>C (p.Val26283=) c.73926A>C (p.Val24642=) n.447-4017T>G n.2044-15289T>G c.77946A>C (p.Val25982=) c.51840A>C (p.Val17280=) c.51699A>C (p.Val17233=) c.77742A>C (p.Val25914=) c.73140A>C (p.Val24380=) c.73137A>C (p.Val24379=) c.70179A>C (p.Val23393=) c.51795A>C (p.Val17265=) c.73290A>C (p.Val24430=) c.73287A>C (p.Val24429=) c.72720A>C (p.Val24240=) c.70062A>C (p.Val23354=) c.69981A>C (p.Val23327=) c.51744A>C (p.Val17248=) c.41598A>C (p.Val13866=) | |
| 2 | g.178567283T= | CA1310529862 | TTN,TTN-AS1 | c.71145A= (p.Val23715=) c.52230A= (p.Val17410=) c.52029A= (p.Val17343=) c.51654A= (p.Val17218=) c.78849A= (p.Val26283=) c.73926A= (p.Val24642=) n.447-4017T= n.2044-15289T= c.77946A= (p.Val25982=) c.51840A= (p.Val17280=) c.51699A= (p.Val17233=) c.77742A= (p.Val25914=) c.73140A= (p.Val24380=) c.73137A= (p.Val24379=) c.70179A= (p.Val23393=) c.51795A= (p.Val17265=) c.73290A= (p.Val24430=) c.73287A= (p.Val24429=) c.72720A= (p.Val24240=) c.70062A= (p.Val23354=) c.69981A= (p.Val23327=) c.51744A= (p.Val17248=) c.41598A= (p.Val13866=) | |
| 2 | g.178567284A>C | CA349600877 | TTN,TTN-AS1 | c.71144T>G (p.Val23715Gly) c.52229T>G (p.Val17410Gly) c.52028T>G (p.Val17343Gly) c.51653T>G (p.Val17218Gly) c.78848T>G (p.Val26283Gly) c.73925T>G (p.Val24642Gly) n.447-4016A>C n.2044-15288A>C c.77945T>G (p.Val25982Gly) c.51839T>G (p.Val17280Gly) c.51698T>G (p.Val17233Gly) c.77741T>G (p.Val25914Gly) c.73139T>G (p.Val24380Gly) c.73136T>G (p.Val24379Gly) c.70178T>G (p.Val23393Gly) c.51794T>G (p.Val17265Gly) c.73289T>G (p.Val24430Gly) c.73286T>G (p.Val24429Gly) c.72719T>G (p.Val24240Gly) c.70061T>G (p.Val23354Gly) c.69980T>G (p.Val23327Gly) c.51743T>G (p.Val17248Gly) c.41597T>G (p.Val13866Gly) | |
| 2 | g.178567284A>G | CA349600878 | TTN,TTN-AS1 | c.71144T>C (p.Val23715Ala) c.52229T>C (p.Val17410Ala) c.52028T>C (p.Val17343Ala) c.51653T>C (p.Val17218Ala) c.78848T>C (p.Val26283Ala) c.73925T>C (p.Val24642Ala) n.447-4016A>G n.2044-15288A>G c.77945T>C (p.Val25982Ala) c.51839T>C (p.Val17280Ala) c.51698T>C (p.Val17233Ala) c.77741T>C (p.Val25914Ala) c.73139T>C (p.Val24380Ala) c.73136T>C (p.Val24379Ala) c.70178T>C (p.Val23393Ala) c.51794T>C (p.Val17265Ala) c.73289T>C (p.Val24430Ala) c.73286T>C (p.Val24429Ala) c.72719T>C (p.Val24240Ala) c.70061T>C (p.Val23354Ala) c.69980T>C (p.Val23327Ala) c.51743T>C (p.Val17248Ala) c.41597T>C (p.Val13866Ala) | |
| 2 | g.178567284A>T | CA349600880 | TTN,TTN-AS1 | c.71144T>A (p.Val23715Glu) c.52229T>A (p.Val17410Glu) c.52028T>A (p.Val17343Glu) c.51653T>A (p.Val17218Glu) c.78848T>A (p.Val26283Glu) c.73925T>A (p.Val24642Glu) n.447-4016A>T n.2044-15288A>T c.77945T>A (p.Val25982Glu) c.51839T>A (p.Val17280Glu) c.51698T>A (p.Val17233Glu) c.77741T>A (p.Val25914Glu) c.73139T>A (p.Val24380Glu) c.73136T>A (p.Val24379Glu) c.70178T>A (p.Val23393Glu) c.51794T>A (p.Val17265Glu) c.73289T>A (p.Val24430Glu) c.73286T>A (p.Val24429Glu) c.72719T>A (p.Val24240Glu) c.70061T>A (p.Val23354Glu) c.69980T>A (p.Val23327Glu) c.51743T>A (p.Val17248Glu) c.41597T>A (p.Val13866Glu) | |
| 2 | g.178567285C>A | CA349600883 | TTN,TTN-AS1 | c.71143G>T (p.Val23715Leu) c.52228G>T (p.Val17410Leu) c.52027G>T (p.Val17343Leu) c.51652G>T (p.Val17218Leu) c.78847G>T (p.Val26283Leu) c.73924G>T (p.Val24642Leu) n.447-4015C>A n.2044-15287C>A c.77944G>T (p.Val25982Leu) c.51838G>T (p.Val17280Leu) c.51697G>T (p.Val17233Leu) c.77740G>T (p.Val25914Leu) c.73138G>T (p.Val24380Leu) c.73135G>T (p.Val24379Leu) c.70177G>T (p.Val23393Leu) c.51793G>T (p.Val17265Leu) c.73288G>T (p.Val24430Leu) c.73285G>T (p.Val24429Leu) c.72718G>T (p.Val24240Leu) c.70060G>T (p.Val23354Leu) c.69979G>T (p.Val23327Leu) c.51742G>T (p.Val17248Leu) c.41596G>T (p.Val13866Leu) | COSMIC COSMIC COSMIC |
| 2 | g.178567285C>G | CA349600884 | TTN,TTN-AS1 | c.71143G>C (p.Val23715Leu) c.52228G>C (p.Val17410Leu) c.52027G>C (p.Val17343Leu) c.51652G>C (p.Val17218Leu) c.78847G>C (p.Val26283Leu) c.73924G>C (p.Val24642Leu) n.447-4015C>G n.2044-15287C>G c.77944G>C (p.Val25982Leu) c.51838G>C (p.Val17280Leu) c.51697G>C (p.Val17233Leu) c.77740G>C (p.Val25914Leu) c.73138G>C (p.Val24380Leu) c.73135G>C (p.Val24379Leu) c.70177G>C (p.Val23393Leu) c.51793G>C (p.Val17265Leu) c.73288G>C (p.Val24430Leu) c.73285G>C (p.Val24429Leu) c.72718G>C (p.Val24240Leu) c.70060G>C (p.Val23354Leu) c.69979G>C (p.Val23327Leu) c.51742G>C (p.Val17248Leu) c.41596G>C (p.Val13866Leu) | |
| 2 | g.178567285C>T | CA349600885 | TTN,TTN-AS1 | c.71143G>A (p.Val23715Ile) c.52228G>A (p.Val17410Ile) c.52027G>A (p.Val17343Ile) c.51652G>A (p.Val17218Ile) c.78847G>A (p.Val26283Ile) c.73924G>A (p.Val24642Ile) n.447-4015C>T n.2044-15287C>T c.77944G>A (p.Val25982Ile) c.51838G>A (p.Val17280Ile) c.51697G>A (p.Val17233Ile) c.77740G>A (p.Val25914Ile) c.73138G>A (p.Val24380Ile) c.73135G>A (p.Val24379Ile) c.70177G>A (p.Val23393Ile) c.51793G>A (p.Val17265Ile) c.73288G>A (p.Val24430Ile) c.73285G>A (p.Val24429Ile) c.72718G>A (p.Val24240Ile) c.70060G>A (p.Val23354Ile) c.69979G>A (p.Val23327Ile) c.51742G>A (p.Val17248Ile) c.41596G>A (p.Val13866Ile) | |
| 2 | g.178567286T>A | CA349600889 | TTN,TTN-AS1 | c.71142A>T (p.Lys23714Asn) c.52227A>T (p.Lys17409Asn) c.52026A>T (p.Lys17342Asn) c.51651A>T (p.Lys17217Asn) c.78846A>T (p.Lys26282Asn) c.73923A>T (p.Lys24641Asn) n.447-4014T>A n.2044-15286T>A c.77943A>T (p.Lys25981Asn) c.51837A>T (p.Lys17279Asn) c.51696A>T (p.Lys17232Asn) c.77739A>T (p.Lys25913Asn) c.73137A>T (p.Lys24379Asn) c.73134A>T (p.Lys24378Asn) c.70176A>T (p.Lys23392Asn) c.51792A>T (p.Lys17264Asn) c.73287A>T (p.Lys24429Asn) c.73284A>T (p.Lys24428Asn) c.72717A>T (p.Lys24239Asn) c.70059A>T (p.Lys23353Asn) c.69978A>T (p.Lys23326Asn) c.51741A>T (p.Lys17247Asn) c.41595A>T (p.Lys13865Asn) | |
| 2 | g.178567286T>C | CA430253049 | TTN,TTN-AS1 | c.71142A>G (p.Lys23714=) c.52227A>G (p.Lys17409=) c.52026A>G (p.Lys17342=) c.51651A>G (p.Lys17217=) c.78846A>G (p.Lys26282=) c.73923A>G (p.Lys24641=) n.447-4014T>C n.2044-15286T>C c.77943A>G (p.Lys25981=) c.51837A>G (p.Lys17279=) c.51696A>G (p.Lys17232=) c.77739A>G (p.Lys25913=) c.73137A>G (p.Lys24379=) c.73134A>G (p.Lys24378=) c.70176A>G (p.Lys23392=) c.51792A>G (p.Lys17264=) c.73287A>G (p.Lys24429=) c.73284A>G (p.Lys24428=) c.72717A>G (p.Lys24239=) c.70059A>G (p.Lys23353=) c.69978A>G (p.Lys23326=) c.51741A>G (p.Lys17247=) c.41595A>G (p.Lys13865=) | |
| 2 | g.178567286T>G | CA349600888 | TTN,TTN-AS1 | c.71142A>C (p.Lys23714Asn) c.52227A>C (p.Lys17409Asn) c.52026A>C (p.Lys17342Asn) c.51651A>C (p.Lys17217Asn) c.78846A>C (p.Lys26282Asn) c.73923A>C (p.Lys24641Asn) n.447-4014T>G n.2044-15286T>G c.77943A>C (p.Lys25981Asn) c.51837A>C (p.Lys17279Asn) c.51696A>C (p.Lys17232Asn) c.77739A>C (p.Lys25913Asn) c.73137A>C (p.Lys24379Asn) c.73134A>C (p.Lys24378Asn) c.70176A>C (p.Lys23392Asn) c.51792A>C (p.Lys17264Asn) c.73287A>C (p.Lys24429Asn) c.73284A>C (p.Lys24428Asn) c.72717A>C (p.Lys24239Asn) c.70059A>C (p.Lys23353Asn) c.69978A>C (p.Lys23326Asn) c.51741A>C (p.Lys17247Asn) c.41595A>C (p.Lys13865Asn) | |
| 2 | g.178567287T>A | CA349600890 | TTN,TTN-AS1 | c.71141A>T (p.Lys23714Ile) c.52226A>T (p.Lys17409Ile) c.52025A>T (p.Lys17342Ile) c.51650A>T (p.Lys17217Ile) c.78845A>T (p.Lys26282Ile) c.73922A>T (p.Lys24641Ile) n.447-4013T>A n.2044-15285T>A c.77942A>T (p.Lys25981Ile) c.51836A>T (p.Lys17279Ile) c.51695A>T (p.Lys17232Ile) c.77738A>T (p.Lys25913Ile) c.73136A>T (p.Lys24379Ile) c.73133A>T (p.Lys24378Ile) c.70175A>T (p.Lys23392Ile) c.51791A>T (p.Lys17264Ile) c.73286A>T (p.Lys24429Ile) c.73283A>T (p.Lys24428Ile) c.72716A>T (p.Lys24239Ile) c.70058A>T (p.Lys23353Ile) c.69977A>T (p.Lys23326Ile) c.51740A>T (p.Lys17247Ile) c.41594A>T (p.Lys13865Ile) | |
| 2 | g.178567287T>C | CA349600894 | TTN,TTN-AS1 | c.71141A>G (p.Lys23714Arg) c.52226A>G (p.Lys17409Arg) c.52025A>G (p.Lys17342Arg) c.51650A>G (p.Lys17217Arg) c.78845A>G (p.Lys26282Arg) c.73922A>G (p.Lys24641Arg) n.447-4013T>C n.2044-15285T>C c.77942A>G (p.Lys25981Arg) c.51836A>G (p.Lys17279Arg) c.51695A>G (p.Lys17232Arg) c.77738A>G (p.Lys25913Arg) c.73136A>G (p.Lys24379Arg) c.73133A>G (p.Lys24378Arg) c.70175A>G (p.Lys23392Arg) c.51791A>G (p.Lys17264Arg) c.73286A>G (p.Lys24429Arg) c.73283A>G (p.Lys24428Arg) c.72716A>G (p.Lys24239Arg) c.70058A>G (p.Lys23353Arg) c.69977A>G (p.Lys23326Arg) c.51740A>G (p.Lys17247Arg) c.41594A>G (p.Lys13865Arg) | |
| 2 | g.178567287T>G | CA349600892 | TTN,TTN-AS1 | c.71141A>C (p.Lys23714Thr) c.52226A>C (p.Lys17409Thr) c.52025A>C (p.Lys17342Thr) c.51650A>C (p.Lys17217Thr) c.78845A>C (p.Lys26282Thr) c.73922A>C (p.Lys24641Thr) n.447-4013T>G n.2044-15285T>G c.77942A>C (p.Lys25981Thr) c.51836A>C (p.Lys17279Thr) c.51695A>C (p.Lys17232Thr) c.77738A>C (p.Lys25913Thr) c.73136A>C (p.Lys24379Thr) c.73133A>C (p.Lys24378Thr) c.70175A>C (p.Lys23392Thr) c.51791A>C (p.Lys17264Thr) c.73286A>C (p.Lys24429Thr) c.73283A>C (p.Lys24428Thr) c.72716A>C (p.Lys24239Thr) c.70058A>C (p.Lys23353Thr) c.69977A>C (p.Lys23326Thr) c.51740A>C (p.Lys17247Thr) c.41594A>C (p.Lys13865Thr) | |
| 2 | g.178567288T>A | CA349600896 | TTN,TTN-AS1 | c.71140A>T (p.Lys23714Ter) c.52225A>T (p.Lys17409Ter) c.52024A>T (p.Lys17342Ter) c.51649A>T (p.Lys17217Ter) c.78844A>T (p.Lys26282Ter) c.73921A>T (p.Lys24641Ter) n.447-4012T>A n.2044-15284T>A c.77941A>T (p.Lys25981Ter) c.51835A>T (p.Lys17279Ter) c.51694A>T (p.Lys17232Ter) c.77737A>T (p.Lys25913Ter) c.73135A>T (p.Lys24379Ter) c.73132A>T (p.Lys24378Ter) c.70174A>T (p.Lys23392Ter) c.51790A>T (p.Lys17264Ter) c.73285A>T (p.Lys24429Ter) c.73282A>T (p.Lys24428Ter) c.72715A>T (p.Lys24239Ter) c.70057A>T (p.Lys23353Ter) c.69976A>T (p.Lys23326Ter) c.51739A>T (p.Lys17247Ter) c.41593A>T (p.Lys13865Ter) | |
| 2 | g.178567288T>C | CA349600899 | TTN,TTN-AS1 | c.71140A>G (p.Lys23714Glu) c.52225A>G (p.Lys17409Glu) c.52024A>G (p.Lys17342Glu) c.51649A>G (p.Lys17217Glu) c.78844A>G (p.Lys26282Glu) c.73921A>G (p.Lys24641Glu) n.447-4012T>C n.2044-15284T>C c.77941A>G (p.Lys25981Glu) c.51835A>G (p.Lys17279Glu) c.51694A>G (p.Lys17232Glu) c.77737A>G (p.Lys25913Glu) c.73135A>G (p.Lys24379Glu) c.73132A>G (p.Lys24378Glu) c.70174A>G (p.Lys23392Glu) c.51790A>G (p.Lys17264Glu) c.73285A>G (p.Lys24429Glu) c.73282A>G (p.Lys24428Glu) c.72715A>G (p.Lys24239Glu) c.70057A>G (p.Lys23353Glu) c.69976A>G (p.Lys23326Glu) c.51739A>G (p.Lys17247Glu) c.41593A>G (p.Lys13865Glu) | |
| 2 | g.178567288T>G | CA349600897 | TTN,TTN-AS1 | c.71140A>C (p.Lys23714Gln) c.52225A>C (p.Lys17409Gln) c.52024A>C (p.Lys17342Gln) c.51649A>C (p.Lys17217Gln) c.78844A>C (p.Lys26282Gln) c.73921A>C (p.Lys24641Gln) n.447-4012T>G n.2044-15284T>G c.77941A>C (p.Lys25981Gln) c.51835A>C (p.Lys17279Gln) c.51694A>C (p.Lys17232Gln) c.77737A>C (p.Lys25913Gln) c.73135A>C (p.Lys24379Gln) c.73132A>C (p.Lys24378Gln) c.70174A>C (p.Lys23392Gln) c.51790A>C (p.Lys17264Gln) c.73285A>C (p.Lys24429Gln) c.73282A>C (p.Lys24428Gln) c.72715A>C (p.Lys24239Gln) c.70057A>C (p.Lys23353Gln) c.69976A>C (p.Lys23326Gln) c.51739A>C (p.Lys17247Gln) c.41593A>C (p.Lys13865Gln) | |
| 2 | g.178567289T>A | CA430253054 | TTN,TTN-AS1 | c.71139A>T (p.Val23713=) c.52224A>T (p.Val17408=) c.52023A>T (p.Val17341=) c.51648A>T (p.Val17216=) c.78843A>T (p.Val26281=) c.73920A>T (p.Val24640=) n.447-4011T>A n.2044-15283T>A c.77940A>T (p.Val25980=) c.51834A>T (p.Val17278=) c.51693A>T (p.Val17231=) c.77736A>T (p.Val25912=) c.73134A>T (p.Val24378=) c.73131A>T (p.Val24377=) c.70173A>T (p.Val23391=) c.51789A>T (p.Val17263=) c.73284A>T (p.Val24428=) c.73281A>T (p.Val24427=) c.72714A>T (p.Val24238=) c.70056A>T (p.Val23352=) c.69975A>T (p.Val23325=) c.51738A>T (p.Val17246=) c.41592A>T (p.Val13864=) | |
| 2 | g.178567289T>C | CA430253056 | TTN,TTN-AS1 | c.71139A>G (p.Val23713=) c.52224A>G (p.Val17408=) c.52023A>G (p.Val17341=) c.51648A>G (p.Val17216=) c.78843A>G (p.Val26281=) c.73920A>G (p.Val24640=) n.447-4011T>C n.2044-15283T>C c.77940A>G (p.Val25980=) c.51834A>G (p.Val17278=) c.51693A>G (p.Val17231=) c.77736A>G (p.Val25912=) c.73134A>G (p.Val24378=) c.73131A>G (p.Val24377=) c.70173A>G (p.Val23391=) c.51789A>G (p.Val17263=) c.73284A>G (p.Val24428=) c.73281A>G (p.Val24427=) c.72714A>G (p.Val24238=) c.70056A>G (p.Val23352=) c.69975A>G (p.Val23325=) c.51738A>G (p.Val17246=) c.41592A>G (p.Val13864=) | |
| 2 | g.178567289T>G | CA430253055 | TTN,TTN-AS1 | c.71139A>C (p.Val23713=) c.52224A>C (p.Val17408=) c.52023A>C (p.Val17341=) c.51648A>C (p.Val17216=) c.78843A>C (p.Val26281=) c.73920A>C (p.Val24640=) n.447-4011T>G n.2044-15283T>G c.77940A>C (p.Val25980=) c.51834A>C (p.Val17278=) c.51693A>C (p.Val17231=) c.77736A>C (p.Val25912=) c.73134A>C (p.Val24378=) c.73131A>C (p.Val24377=) c.70173A>C (p.Val23391=) c.51789A>C (p.Val17263=) c.73284A>C (p.Val24428=) c.73281A>C (p.Val24427=) c.72714A>C (p.Val24238=) c.70056A>C (p.Val23352=) c.69975A>C (p.Val23325=) c.51738A>C (p.Val17246=) c.41592A>C (p.Val13864=) | |
| 2 | g.178567290A>C | CA349600902 | TTN,TTN-AS1 | c.71138T>G (p.Val23713Gly) c.52223T>G (p.Val17408Gly) c.52022T>G (p.Val17341Gly) c.51647T>G (p.Val17216Gly) c.78842T>G (p.Val26281Gly) c.73919T>G (p.Val24640Gly) n.447-4010A>C n.2044-15282A>C c.77939T>G (p.Val25980Gly) c.51833T>G (p.Val17278Gly) c.51692T>G (p.Val17231Gly) c.77735T>G (p.Val25912Gly) c.73133T>G (p.Val24378Gly) c.73130T>G (p.Val24377Gly) c.70172T>G (p.Val23391Gly) c.51788T>G (p.Val17263Gly) c.73283T>G (p.Val24428Gly) c.73280T>G (p.Val24427Gly) c.72713T>G (p.Val24238Gly) c.70055T>G (p.Val23352Gly) c.69974T>G (p.Val23325Gly) c.51737T>G (p.Val17246Gly) c.41591T>G (p.Val13864Gly) | |
| 2 | g.178567290A>G | CA349600903 | TTN,TTN-AS1 | c.71138T>C (p.Val23713Ala) c.52223T>C (p.Val17408Ala) c.52022T>C (p.Val17341Ala) c.51647T>C (p.Val17216Ala) c.78842T>C (p.Val26281Ala) c.73919T>C (p.Val24640Ala) n.447-4010A>G n.2044-15282A>G c.77939T>C (p.Val25980Ala) c.51833T>C (p.Val17278Ala) c.51692T>C (p.Val17231Ala) c.77735T>C (p.Val25912Ala) c.73133T>C (p.Val24378Ala) c.73130T>C (p.Val24377Ala) c.70172T>C (p.Val23391Ala) c.51788T>C (p.Val17263Ala) c.73283T>C (p.Val24428Ala) c.73280T>C (p.Val24427Ala) c.72713T>C (p.Val24238Ala) c.70055T>C (p.Val23352Ala) c.69974T>C (p.Val23325Ala) c.51737T>C (p.Val17246Ala) c.41591T>C (p.Val13864Ala) | |
| 2 | g.178567290A>T | CA349600904 | TTN,TTN-AS1 | c.71138T>A (p.Val23713Glu) c.52223T>A (p.Val17408Glu) c.52022T>A (p.Val17341Glu) c.51647T>A (p.Val17216Glu) c.78842T>A (p.Val26281Glu) c.73919T>A (p.Val24640Glu) n.447-4010A>T n.2044-15282A>T c.77939T>A (p.Val25980Glu) c.51833T>A (p.Val17278Glu) c.51692T>A (p.Val17231Glu) c.77735T>A (p.Val25912Glu) c.73133T>A (p.Val24378Glu) c.73130T>A (p.Val24377Glu) c.70172T>A (p.Val23391Glu) c.51788T>A (p.Val17263Glu) c.73283T>A (p.Val24428Glu) c.73280T>A (p.Val24427Glu) c.72713T>A (p.Val24238Glu) c.70055T>A (p.Val23352Glu) c.69974T>A (p.Val23325Glu) c.51737T>A (p.Val17246Glu) c.41591T>A (p.Val13864Glu) | |
| 2 | g.178567291C>A | CA349600907 | TTN,TTN-AS1 | c.71137G>T (p.Val23713Leu) c.52222G>T (p.Val17408Leu) c.52021G>T (p.Val17341Leu) c.51646G>T (p.Val17216Leu) c.78841G>T (p.Val26281Leu) c.73918G>T (p.Val24640Leu) n.447-4009C>A n.2044-15281C>A c.77938G>T (p.Val25980Leu) c.51832G>T (p.Val17278Leu) c.51691G>T (p.Val17231Leu) c.77734G>T (p.Val25912Leu) c.73132G>T (p.Val24378Leu) c.73129G>T (p.Val24377Leu) c.70171G>T (p.Val23391Leu) c.51787G>T (p.Val17263Leu) c.73282G>T (p.Val24428Leu) c.73279G>T (p.Val24427Leu) c.72712G>T (p.Val24238Leu) c.70054G>T (p.Val23352Leu) c.69973G>T (p.Val23325Leu) c.51736G>T (p.Val17246Leu) c.41590G>T (p.Val13864Leu) | |
| 2 | g.178567291C= | CA1310529863 | TTN,TTN-AS1 | c.71137G= (p.Val23713=) c.52222G= (p.Val17408=) c.52021G= (p.Val17341=) c.51646G= (p.Val17216=) c.78841G= (p.Val26281=) c.73918G= (p.Val24640=) n.447-4009C= n.2044-15281C= c.77938G= (p.Val25980=) c.51832G= (p.Val17278=) c.51691G= (p.Val17231=) c.77734G= (p.Val25912=) c.73132G= (p.Val24378=) c.73129G= (p.Val24377=) c.70171G= (p.Val23391=) c.51787G= (p.Val17263=) c.73282G= (p.Val24428=) c.73279G= (p.Val24427=) c.72712G= (p.Val24238=) c.70054G= (p.Val23352=) c.69973G= (p.Val23325=) c.51736G= (p.Val17246=) c.41590G= (p.Val13864=) | |
| 2 | g.178567291C>G | CA349600908 | TTN,TTN-AS1 | c.71137G>C (p.Val23713Leu) c.52222G>C (p.Val17408Leu) c.52021G>C (p.Val17341Leu) c.51646G>C (p.Val17216Leu) c.78841G>C (p.Val26281Leu) c.73918G>C (p.Val24640Leu) n.447-4009C>G n.2044-15281C>G c.77938G>C (p.Val25980Leu) c.51832G>C (p.Val17278Leu) c.51691G>C (p.Val17231Leu) c.77734G>C (p.Val25912Leu) c.73132G>C (p.Val24378Leu) c.73129G>C (p.Val24377Leu) c.70171G>C (p.Val23391Leu) c.51787G>C (p.Val17263Leu) c.73282G>C (p.Val24428Leu) c.73279G>C (p.Val24427Leu) c.72712G>C (p.Val24238Leu) c.70054G>C (p.Val23352Leu) c.69973G>C (p.Val23325Leu) c.51736G>C (p.Val17246Leu) c.41590G>C (p.Val13864Leu) | |
| 2 | g.178567291C>T | CA1989558 | TTN,TTN-AS1 | c.71137G>A (p.Val23713Ile) c.52222G>A (p.Val17408Ile) c.52021G>A (p.Val17341Ile) c.51646G>A (p.Val17216Ile) c.78841G>A (p.Val26281Ile) c.73918G>A (p.Val24640Ile) n.447-4009C>T n.2044-15281C>T c.77938G>A (p.Val25980Ile) c.51832G>A (p.Val17278Ile) c.51691G>A (p.Val17231Ile) c.77734G>A (p.Val25912Ile) c.73132G>A (p.Val24378Ile) c.73129G>A (p.Val24377Ile) c.70171G>A (p.Val23391Ile) c.51787G>A (p.Val17263Ile) c.73282G>A (p.Val24428Ile) c.73279G>A (p.Val24427Ile) c.72712G>A (p.Val24238Ile) c.70054G>A (p.Val23352Ile) c.69973G>A (p.Val23325Ile) c.51736G>A (p.Val17246Ile) c.41590G>A (p.Val13864Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.178567292A>C | CA349600911 | TTN,TTN-AS1 | c.71136T>G (p.Asn23712Lys) c.52221T>G (p.Asn17407Lys) c.52020T>G (p.Asn17340Lys) c.51645T>G (p.Asn17215Lys) c.78840T>G (p.Asn26280Lys) c.73917T>G (p.Asn24639Lys) n.447-4008A>C n.2044-15280A>C c.77937T>G (p.Asn25979Lys) c.51831T>G (p.Asn17277Lys) c.51690T>G (p.Asn17230Lys) c.77733T>G (p.Asn25911Lys) c.73131T>G (p.Asn24377Lys) c.73128T>G (p.Asn24376Lys) c.70170T>G (p.Asn23390Lys) c.51786T>G (p.Asn17262Lys) c.73281T>G (p.Asn24427Lys) c.73278T>G (p.Asn24426Lys) c.72711T>G (p.Asn24237Lys) c.70053T>G (p.Asn23351Lys) c.69972T>G (p.Asn23324Lys) c.51735T>G (p.Asn17245Lys) c.41589T>G (p.Asn13863Lys) | |
| 2 | g.178567292A>G | CA430253058 | TTN,TTN-AS1 | c.71136T>C (p.Asn23712=) c.52221T>C (p.Asn17407=) c.52020T>C (p.Asn17340=) c.51645T>C (p.Asn17215=) c.78840T>C (p.Asn26280=) c.73917T>C (p.Asn24639=) n.447-4008A>G n.2044-15280A>G c.77937T>C (p.Asn25979=) c.51831T>C (p.Asn17277=) c.51690T>C (p.Asn17230=) c.77733T>C (p.Asn25911=) c.73131T>C (p.Asn24377=) c.73128T>C (p.Asn24376=) c.70170T>C (p.Asn23390=) c.51786T>C (p.Asn17262=) c.73281T>C (p.Asn24427=) c.73278T>C (p.Asn24426=) c.72711T>C (p.Asn24237=) c.70053T>C (p.Asn23351=) c.69972T>C (p.Asn23324=) c.51735T>C (p.Asn17245=) c.41589T>C (p.Asn13863=) | |
| 2 | g.178567292A>T | CA349600912 | TTN,TTN-AS1 | c.71136T>A (p.Asn23712Lys) c.52221T>A (p.Asn17407Lys) c.52020T>A (p.Asn17340Lys) c.51645T>A (p.Asn17215Lys) c.78840T>A (p.Asn26280Lys) c.73917T>A (p.Asn24639Lys) n.447-4008A>T n.2044-15280A>T c.77937T>A (p.Asn25979Lys) c.51831T>A (p.Asn17277Lys) c.51690T>A (p.Asn17230Lys) c.77733T>A (p.Asn25911Lys) c.73131T>A (p.Asn24377Lys) c.73128T>A (p.Asn24376Lys) c.70170T>A (p.Asn23390Lys) c.51786T>A (p.Asn17262Lys) c.73281T>A (p.Asn24427Lys) c.73278T>A (p.Asn24426Lys) c.72711T>A (p.Asn24237Lys) c.70053T>A (p.Asn23351Lys) c.69972T>A (p.Asn23324Lys) c.51735T>A (p.Asn17245Lys) c.41589T>A (p.Asn13863Lys) | |
| 2 | g.178567293T>A | CA349600914 | TTN,TTN-AS1 | c.71135A>T (p.Asn23712Ile) c.52220A>T (p.Asn17407Ile) c.52019A>T (p.Asn17340Ile) c.51644A>T (p.Asn17215Ile) c.78839A>T (p.Asn26280Ile) c.73916A>T (p.Asn24639Ile) n.447-4007T>A n.2044-15279T>A c.77936A>T (p.Asn25979Ile) c.51830A>T (p.Asn17277Ile) c.51689A>T (p.Asn17230Ile) c.77732A>T (p.Asn25911Ile) c.73130A>T (p.Asn24377Ile) c.73127A>T (p.Asn24376Ile) c.70169A>T (p.Asn23390Ile) c.51785A>T (p.Asn17262Ile) c.73280A>T (p.Asn24427Ile) c.73277A>T (p.Asn24426Ile) c.72710A>T (p.Asn24237Ile) c.70052A>T (p.Asn23351Ile) c.69971A>T (p.Asn23324Ile) c.51734A>T (p.Asn17245Ile) c.41588A>T (p.Asn13863Ile) | |
| 2 | g.178567293T>C | CA349600915 | TTN,TTN-AS1 | c.71135A>G (p.Asn23712Ser) c.52220A>G (p.Asn17407Ser) c.52019A>G (p.Asn17340Ser) c.51644A>G (p.Asn17215Ser) c.78839A>G (p.Asn26280Ser) c.73916A>G (p.Asn24639Ser) n.447-4007T>C n.2044-15279T>C c.77936A>G (p.Asn25979Ser) c.51830A>G (p.Asn17277Ser) c.51689A>G (p.Asn17230Ser) c.77732A>G (p.Asn25911Ser) c.73130A>G (p.Asn24377Ser) c.73127A>G (p.Asn24376Ser) c.70169A>G (p.Asn23390Ser) c.51785A>G (p.Asn17262Ser) c.73280A>G (p.Asn24427Ser) c.73277A>G (p.Asn24426Ser) c.72710A>G (p.Asn24237Ser) c.70052A>G (p.Asn23351Ser) c.69971A>G (p.Asn23324Ser) c.51734A>G (p.Asn17245Ser) c.41588A>G (p.Asn13863Ser) | |
| 2 | g.178567293T>G | CA1989559 | TTN,TTN-AS1 | c.71135A>C (p.Asn23712Thr) c.52220A>C (p.Asn17407Thr) c.52019A>C (p.Asn17340Thr) c.51644A>C (p.Asn17215Thr) c.78839A>C (p.Asn26280Thr) c.73916A>C (p.Asn24639Thr) n.447-4007T>G n.2044-15279T>G c.77936A>C (p.Asn25979Thr) c.51830A>C (p.Asn17277Thr) c.51689A>C (p.Asn17230Thr) c.77732A>C (p.Asn25911Thr) c.73130A>C (p.Asn24377Thr) c.73127A>C (p.Asn24376Thr) c.70169A>C (p.Asn23390Thr) c.51785A>C (p.Asn17262Thr) c.73280A>C (p.Asn24427Thr) c.73277A>C (p.Asn24426Thr) c.72710A>C (p.Asn24237Thr) c.70052A>C (p.Asn23351Thr) c.69971A>C (p.Asn23324Thr) c.51734A>C (p.Asn17245Thr) c.41588A>C (p.Asn13863Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.178567293T= | CA1310529864 | TTN,TTN-AS1 | c.71135A= (p.Asn23712=) c.52220A= (p.Asn17407=) c.52019A= (p.Asn17340=) c.51644A= (p.Asn17215=) c.78839A= (p.Asn26280=) c.73916A= (p.Asn24639=) n.447-4007T= n.2044-15279T= c.77936A= (p.Asn25979=) c.51830A= (p.Asn17277=) c.51689A= (p.Asn17230=) c.77732A= (p.Asn25911=) c.73130A= (p.Asn24377=) c.73127A= (p.Asn24376=) c.70169A= (p.Asn23390=) c.51785A= (p.Asn17262=) c.73280A= (p.Asn24427=) c.73277A= (p.Asn24426=) c.72710A= (p.Asn24237=) c.70052A= (p.Asn23351=) c.69971A= (p.Asn23324=) c.51734A= (p.Asn17245=) c.41588A= (p.Asn13863=) | |
| 2 | g.178567294T>A | CA349600920 | TTN,TTN-AS1 | c.71134A>T (p.Asn23712Tyr) c.52219A>T (p.Asn17407Tyr) c.52018A>T (p.Asn17340Tyr) c.51643A>T (p.Asn17215Tyr) c.78838A>T (p.Asn26280Tyr) c.73915A>T (p.Asn24639Tyr) n.447-4006T>A n.2044-15278T>A c.77935A>T (p.Asn25979Tyr) c.51829A>T (p.Asn17277Tyr) c.51688A>T (p.Asn17230Tyr) c.77731A>T (p.Asn25911Tyr) c.73129A>T (p.Asn24377Tyr) c.73126A>T (p.Asn24376Tyr) c.70168A>T (p.Asn23390Tyr) c.51784A>T (p.Asn17262Tyr) c.73279A>T (p.Asn24427Tyr) c.73276A>T (p.Asn24426Tyr) c.72709A>T (p.Asn24237Tyr) c.70051A>T (p.Asn23351Tyr) c.69970A>T (p.Asn23324Tyr) c.51733A>T (p.Asn17245Tyr) c.41587A>T (p.Asn13863Tyr) | |
| 2 | g.178567294T>C | CA349600918 | TTN,TTN-AS1 | c.71134A>G (p.Asn23712Asp) c.52219A>G (p.Asn17407Asp) c.52018A>G (p.Asn17340Asp) c.51643A>G (p.Asn17215Asp) c.78838A>G (p.Asn26280Asp) c.73915A>G (p.Asn24639Asp) n.447-4006T>C n.2044-15278T>C c.77935A>G (p.Asn25979Asp) c.51829A>G (p.Asn17277Asp) c.51688A>G (p.Asn17230Asp) c.77731A>G (p.Asn25911Asp) c.73129A>G (p.Asn24377Asp) c.73126A>G (p.Asn24376Asp) c.70168A>G (p.Asn23390Asp) c.51784A>G (p.Asn17262Asp) c.73279A>G (p.Asn24427Asp) c.73276A>G (p.Asn24426Asp) c.72709A>G (p.Asn24237Asp) c.70051A>G (p.Asn23351Asp) c.69970A>G (p.Asn23324Asp) c.51733A>G (p.Asn17245Asp) c.41587A>G (p.Asn13863Asp) | |
| 2 | g.178567294T>G | CA349600919 | TTN,TTN-AS1 | c.71134A>C (p.Asn23712His) c.52219A>C (p.Asn17407His) c.52018A>C (p.Asn17340His) c.51643A>C (p.Asn17215His) c.78838A>C (p.Asn26280His) c.73915A>C (p.Asn24639His) n.447-4006T>G n.2044-15278T>G c.77935A>C (p.Asn25979His) c.51829A>C (p.Asn17277His) c.51688A>C (p.Asn17230His) c.77731A>C (p.Asn25911His) c.73129A>C (p.Asn24377His) c.73126A>C (p.Asn24376His) c.70168A>C (p.Asn23390His) c.51784A>C (p.Asn17262His) c.73279A>C (p.Asn24427His) c.73276A>C (p.Asn24426His) c.72709A>C (p.Asn24237His) c.70051A>C (p.Asn23351His) c.69970A>C (p.Asn23324His) c.51733A>C (p.Asn17245His) c.41587A>C (p.Asn13863His) | gnomAD v4 |
| 2 | g.178567295T>A | CA430253063 | TTN,TTN-AS1 | c.71133A>T (p.Val23711=) c.52218A>T (p.Val17406=) c.52017A>T (p.Val17339=) c.51642A>T (p.Val17214=) c.78837A>T (p.Val26279=) c.73914A>T (p.Val24638=) n.447-4005T>A n.2044-15277T>A c.77934A>T (p.Val25978=) c.51828A>T (p.Val17276=) c.51687A>T (p.Val17229=) c.77730A>T (p.Val25910=) c.73128A>T (p.Val24376=) c.73125A>T (p.Val24375=) c.70167A>T (p.Val23389=) c.51783A>T (p.Val17261=) c.73278A>T (p.Val24426=) c.73275A>T (p.Val24425=) c.72708A>T (p.Val24236=) c.70050A>T (p.Val23350=) c.69969A>T (p.Val23323=) c.51732A>T (p.Val17244=) c.41586A>T (p.Val13862=) | |
| 2 | g.178567295T>C | CA1989560 | TTN,TTN-AS1 | c.71133A>G (p.Val23711=) c.52218A>G (p.Val17406=) c.52017A>G (p.Val17339=) c.51642A>G (p.Val17214=) c.78837A>G (p.Val26279=) c.73914A>G (p.Val24638=) n.447-4005T>C n.2044-15277T>C c.77934A>G (p.Val25978=) c.51828A>G (p.Val17276=) c.51687A>G (p.Val17229=) c.77730A>G (p.Val25910=) c.73128A>G (p.Val24376=) c.73125A>G (p.Val24375=) c.70167A>G (p.Val23389=) c.51783A>G (p.Val17261=) c.73278A>G (p.Val24426=) c.73275A>G (p.Val24425=) c.72708A>G (p.Val24236=) c.70050A>G (p.Val23350=) c.69969A>G (p.Val23323=) c.51732A>G (p.Val17244=) c.41586A>G (p.Val13862=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.178567295T>G | CA430253064 | TTN,TTN-AS1 | c.71133A>C (p.Val23711=) c.52218A>C (p.Val17406=) c.52017A>C (p.Val17339=) c.51642A>C (p.Val17214=) c.78837A>C (p.Val26279=) c.73914A>C (p.Val24638=) n.447-4005T>G n.2044-15277T>G c.77934A>C (p.Val25978=) c.51828A>C (p.Val17276=) c.51687A>C (p.Val17229=) c.77730A>C (p.Val25910=) c.73128A>C (p.Val24376=) c.73125A>C (p.Val24375=) c.70167A>C (p.Val23389=) c.51783A>C (p.Val17261=) c.73278A>C (p.Val24426=) c.73275A>C (p.Val24425=) c.72708A>C (p.Val24236=) c.70050A>C (p.Val23350=) c.69969A>C (p.Val23323=) c.51732A>C (p.Val17244=) c.41586A>C (p.Val13862=) | |
| 2 | g.178567295T= | CA1310529865 | TTN,TTN-AS1 | c.71133A= (p.Val23711=) c.52218A= (p.Val17406=) c.52017A= (p.Val17339=) c.51642A= (p.Val17214=) c.78837A= (p.Val26279=) c.73914A= (p.Val24638=) n.447-4005T= n.2044-15277T= c.77934A= (p.Val25978=) c.51828A= (p.Val17276=) c.51687A= (p.Val17229=) c.77730A= (p.Val25910=) c.73128A= (p.Val24376=) c.73125A= (p.Val24375=) c.70167A= (p.Val23389=) c.51783A= (p.Val17261=) c.73278A= (p.Val24426=) c.73275A= (p.Val24425=) c.72708A= (p.Val24236=) c.70050A= (p.Val23350=) c.69969A= (p.Val23323=) c.51732A= (p.Val17244=) c.41586A= (p.Val13862=) | |
| 2 | g.178567296A>C | CA349600925 | TTN,TTN-AS1 | c.71132T>G (p.Val23711Gly) c.52217T>G (p.Val17406Gly) c.52016T>G (p.Val17339Gly) c.51641T>G (p.Val17214Gly) c.78836T>G (p.Val26279Gly) c.73913T>G (p.Val24638Gly) n.447-4004A>C n.2044-15276A>C c.77933T>G (p.Val25978Gly) c.51827T>G (p.Val17276Gly) c.51686T>G (p.Val17229Gly) c.77729T>G (p.Val25910Gly) c.73127T>G (p.Val24376Gly) c.73124T>G (p.Val24375Gly) c.70166T>G (p.Val23389Gly) c.51782T>G (p.Val17261Gly) c.73277T>G (p.Val24426Gly) c.73274T>G (p.Val24425Gly) c.72707T>G (p.Val24236Gly) c.70049T>G (p.Val23350Gly) c.69968T>G (p.Val23323Gly) c.51731T>G (p.Val17244Gly) c.41585T>G (p.Val13862Gly) | |
| 2 | g.178567296A>G | CA349600926 | TTN,TTN-AS1 | c.71132T>C (p.Val23711Ala) c.52217T>C (p.Val17406Ala) c.52016T>C (p.Val17339Ala) c.51641T>C (p.Val17214Ala) c.78836T>C (p.Val26279Ala) c.73913T>C (p.Val24638Ala) n.447-4004A>G n.2044-15276A>G c.77933T>C (p.Val25978Ala) c.51827T>C (p.Val17276Ala) c.51686T>C (p.Val17229Ala) c.77729T>C (p.Val25910Ala) c.73127T>C (p.Val24376Ala) c.73124T>C (p.Val24375Ala) c.70166T>C (p.Val23389Ala) c.51782T>C (p.Val17261Ala) c.73277T>C (p.Val24426Ala) c.73274T>C (p.Val24425Ala) c.72707T>C (p.Val24236Ala) c.70049T>C (p.Val23350Ala) c.69968T>C (p.Val23323Ala) c.51731T>C (p.Val17244Ala) c.41585T>C (p.Val13862Ala) | |
| 2 | g.178567296A>T | CA349600928 | TTN,TTN-AS1 | c.71132T>A (p.Val23711Glu) c.52217T>A (p.Val17406Glu) c.52016T>A (p.Val17339Glu) c.51641T>A (p.Val17214Glu) c.78836T>A (p.Val26279Glu) c.73913T>A (p.Val24638Glu) n.447-4004A>T n.2044-15276A>T c.77933T>A (p.Val25978Glu) c.51827T>A (p.Val17276Glu) c.51686T>A (p.Val17229Glu) c.77729T>A (p.Val25910Glu) c.73127T>A (p.Val24376Glu) c.73124T>A (p.Val24375Glu) c.70166T>A (p.Val23389Glu) c.51782T>A (p.Val17261Glu) c.73277T>A (p.Val24426Glu) c.73274T>A (p.Val24425Glu) c.72707T>A (p.Val24236Glu) c.70049T>A (p.Val23350Glu) c.69968T>A (p.Val23323Glu) c.51731T>A (p.Val17244Glu) c.41585T>A (p.Val13862Glu) | |
| 2 | g.178567297C>A | CA60991100 | TTN,TTN-AS1 | c.71131G>T (p.Val23711Leu) c.52216G>T (p.Val17406Leu) c.52015G>T (p.Val17339Leu) c.51640G>T (p.Val17214Leu) c.78835G>T (p.Val26279Leu) c.73912G>T (p.Val24638Leu) n.447-4003C>A n.2044-15275C>A c.77932G>T (p.Val25978Leu) c.51826G>T (p.Val17276Leu) c.51685G>T (p.Val17229Leu) c.77728G>T (p.Val25910Leu) c.73126G>T (p.Val24376Leu) c.73123G>T (p.Val24375Leu) c.70165G>T (p.Val23389Leu) c.51781G>T (p.Val17261Leu) c.73276G>T (p.Val24426Leu) c.73273G>T (p.Val24425Leu) c.72706G>T (p.Val24236Leu) c.70048G>T (p.Val23350Leu) c.69967G>T (p.Val23323Leu) c.51730G>T (p.Val17244Leu) c.41584G>T (p.Val13862Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.178567297C= | CA1310529866 | TTN,TTN-AS1 | c.71131G= (p.Val23711=) c.52216G= (p.Val17406=) c.52015G= (p.Val17339=) c.51640G= (p.Val17214=) c.78835G= (p.Val26279=) c.73912G= (p.Val24638=) n.447-4003C= n.2044-15275C= c.77932G= (p.Val25978=) c.51826G= (p.Val17276=) c.51685G= (p.Val17229=) c.77728G= (p.Val25910=) c.73126G= (p.Val24376=) c.73123G= (p.Val24375=) c.70165G= (p.Val23389=) c.51781G= (p.Val17261=) c.73276G= (p.Val24426=) c.73273G= (p.Val24425=) c.72706G= (p.Val24236=) c.70048G= (p.Val23350=) c.69967G= (p.Val23323=) c.51730G= (p.Val17244=) c.41584G= (p.Val13862=) | |
| 2 | g.178567297C>G | CA349600931 | TTN,TTN-AS1 | c.71131G>C (p.Val23711Leu) c.52216G>C (p.Val17406Leu) c.52015G>C (p.Val17339Leu) c.51640G>C (p.Val17214Leu) c.78835G>C (p.Val26279Leu) c.73912G>C (p.Val24638Leu) n.447-4003C>G n.2044-15275C>G c.77932G>C (p.Val25978Leu) c.51826G>C (p.Val17276Leu) c.51685G>C (p.Val17229Leu) c.77728G>C (p.Val25910Leu) c.73126G>C (p.Val24376Leu) c.73123G>C (p.Val24375Leu) c.70165G>C (p.Val23389Leu) c.51781G>C (p.Val17261Leu) c.73276G>C (p.Val24426Leu) c.73273G>C (p.Val24425Leu) c.72706G>C (p.Val24236Leu) c.70048G>C (p.Val23350Leu) c.69967G>C (p.Val23323Leu) c.51730G>C (p.Val17244Leu) c.41584G>C (p.Val13862Leu) | |
| 2 | g.178567297C>T | CA349600934 | TTN,TTN-AS1 | c.71131G>A (p.Val23711Ile) c.52216G>A (p.Val17406Ile) c.52015G>A (p.Val17339Ile) c.51640G>A (p.Val17214Ile) c.78835G>A (p.Val26279Ile) c.73912G>A (p.Val24638Ile) n.447-4003C>T n.2044-15275C>T c.77932G>A (p.Val25978Ile) c.51826G>A (p.Val17276Ile) c.51685G>A (p.Val17229Ile) c.77728G>A (p.Val25910Ile) c.73126G>A (p.Val24376Ile) c.73123G>A (p.Val24375Ile) c.70165G>A (p.Val23389Ile) c.51781G>A (p.Val17261Ile) c.73276G>A (p.Val24426Ile) c.73273G>A (p.Val24425Ile) c.72706G>A (p.Val24236Ile) c.70048G>A (p.Val23350Ile) c.69967G>A (p.Val23323Ile) c.51730G>A (p.Val17244Ile) c.41584G>A (p.Val13862Ile) | gnomAD v4 |