Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.178551744C>A | CA349503381 | TTN,TTN-AS1 | c.83452G>T (p.Ala27818Ser) c.64537G>T (p.Ala21513Ser) c.64336G>T (p.Ala21446Ser) c.63961G>T (p.Ala21321Ser) c.91156G>T (p.Ala30386Ser) c.86233G>T (p.Ala28745Ser) n.447-19556C>A n.2043+9383C>A c.90253G>T (p.Ala30085Ser) c.64147G>T (p.Ala21383Ser) c.64006G>T (p.Ala21336Ser) c.90049G>T (p.Ala30017Ser) c.85447G>T (p.Ala28483Ser) c.85444G>T (p.Ala28482Ser) c.82486G>T (p.Ala27496Ser) c.64102G>T (p.Ala21368Ser) c.85597G>T (p.Ala28533Ser) c.85594G>T (p.Ala28532Ser) c.85027G>T (p.Ala28343Ser) c.82369G>T (p.Ala27457Ser) c.82288G>T (p.Ala27430Ser) c.64051G>T (p.Ala21351Ser) c.53905G>T (p.Ala17969Ser) | |
2 | g.178551744C>G | CA349503383 | TTN,TTN-AS1 | c.83452G>C (p.Ala27818Pro) c.64537G>C (p.Ala21513Pro) c.64336G>C (p.Ala21446Pro) c.63961G>C (p.Ala21321Pro) c.91156G>C (p.Ala30386Pro) c.86233G>C (p.Ala28745Pro) n.447-19556C>G n.2043+9383C>G c.90253G>C (p.Ala30085Pro) c.64147G>C (p.Ala21383Pro) c.64006G>C (p.Ala21336Pro) c.90049G>C (p.Ala30017Pro) c.85447G>C (p.Ala28483Pro) c.85444G>C (p.Ala28482Pro) c.82486G>C (p.Ala27496Pro) c.64102G>C (p.Ala21368Pro) c.85597G>C (p.Ala28533Pro) c.85594G>C (p.Ala28532Pro) c.85027G>C (p.Ala28343Pro) c.82369G>C (p.Ala27457Pro) c.82288G>C (p.Ala27430Pro) c.64051G>C (p.Ala21351Pro) c.53905G>C (p.Ala17969Pro) | |
2 | g.178551744C>T | CA349503386 | TTN,TTN-AS1 | c.83452G>A (p.Ala27818Thr) c.64537G>A (p.Ala21513Thr) c.64336G>A (p.Ala21446Thr) c.63961G>A (p.Ala21321Thr) c.91156G>A (p.Ala30386Thr) c.86233G>A (p.Ala28745Thr) n.447-19556C>T n.2043+9383C>T c.90253G>A (p.Ala30085Thr) c.64147G>A (p.Ala21383Thr) c.64006G>A (p.Ala21336Thr) c.90049G>A (p.Ala30017Thr) c.85447G>A (p.Ala28483Thr) c.85444G>A (p.Ala28482Thr) c.82486G>A (p.Ala27496Thr) c.64102G>A (p.Ala21368Thr) c.85597G>A (p.Ala28533Thr) c.85594G>A (p.Ala28532Thr) c.85027G>A (p.Ala28343Thr) c.82369G>A (p.Ala27457Thr) c.82288G>A (p.Ala27430Thr) c.64051G>A (p.Ala21351Thr) c.53905G>A (p.Ala17969Thr) | gnomAD v4 |
2 | g.178551745T>A | CA349503390 | TTN,TTN-AS1 | c.83451A>T (p.Arg27817Ser) c.64536A>T (p.Arg21512Ser) c.64335A>T (p.Arg21445Ser) c.63960A>T (p.Arg21320Ser) c.91155A>T (p.Arg30385Ser) c.86232A>T (p.Arg28744Ser) n.447-19555T>A n.2043+9384T>A c.90252A>T (p.Arg30084Ser) c.64146A>T (p.Arg21382Ser) c.64005A>T (p.Arg21335Ser) c.90048A>T (p.Arg30016Ser) c.85446A>T (p.Arg28482Ser) c.85443A>T (p.Arg28481Ser) c.82485A>T (p.Arg27495Ser) c.64101A>T (p.Arg21367Ser) c.85596A>T (p.Arg28532Ser) c.85593A>T (p.Arg28531Ser) c.85026A>T (p.Arg28342Ser) c.82368A>T (p.Arg27456Ser) c.82287A>T (p.Arg27429Ser) c.64050A>T (p.Arg21350Ser) c.53904A>T (p.Arg17968Ser) | |
2 | g.178551745T>C | CA430245153 | TTN,TTN-AS1 | c.83451A>G (p.Arg27817=) c.64536A>G (p.Arg21512=) c.64335A>G (p.Arg21445=) c.63960A>G (p.Arg21320=) c.91155A>G (p.Arg30385=) c.86232A>G (p.Arg28744=) n.447-19555T>C n.2043+9384T>C c.90252A>G (p.Arg30084=) c.64146A>G (p.Arg21382=) c.64005A>G (p.Arg21335=) c.90048A>G (p.Arg30016=) c.85446A>G (p.Arg28482=) c.85443A>G (p.Arg28481=) c.82485A>G (p.Arg27495=) c.64101A>G (p.Arg21367=) c.85596A>G (p.Arg28532=) c.85593A>G (p.Arg28531=) c.85026A>G (p.Arg28342=) c.82368A>G (p.Arg27456=) c.82287A>G (p.Arg27429=) c.64050A>G (p.Arg21350=) c.53904A>G (p.Arg17968=) | |
2 | g.178551745T>G | CA349503392 | TTN,TTN-AS1 | c.83451A>C (p.Arg27817Ser) c.64536A>C (p.Arg21512Ser) c.64335A>C (p.Arg21445Ser) c.63960A>C (p.Arg21320Ser) c.91155A>C (p.Arg30385Ser) c.86232A>C (p.Arg28744Ser) n.447-19555T>G n.2043+9384T>G c.90252A>C (p.Arg30084Ser) c.64146A>C (p.Arg21382Ser) c.64005A>C (p.Arg21335Ser) c.90048A>C (p.Arg30016Ser) c.85446A>C (p.Arg28482Ser) c.85443A>C (p.Arg28481Ser) c.82485A>C (p.Arg27495Ser) c.64101A>C (p.Arg21367Ser) c.85596A>C (p.Arg28532Ser) c.85593A>C (p.Arg28531Ser) c.85026A>C (p.Arg28342Ser) c.82368A>C (p.Arg27456Ser) c.82287A>C (p.Arg27429Ser) c.64050A>C (p.Arg21350Ser) c.53904A>C (p.Arg17968Ser) | |
2 | g.178551746C>A | CA349503396 | TTN,TTN-AS1 | c.83450G>T (p.Arg27817Ile) c.64535G>T (p.Arg21512Ile) c.64334G>T (p.Arg21445Ile) c.63959G>T (p.Arg21320Ile) c.91154G>T (p.Arg30385Ile) c.86231G>T (p.Arg28744Ile) n.447-19554C>A n.2043+9385C>A c.90251G>T (p.Arg30084Ile) c.64145G>T (p.Arg21382Ile) c.64004G>T (p.Arg21335Ile) c.90047G>T (p.Arg30016Ile) c.85445G>T (p.Arg28482Ile) c.85442G>T (p.Arg28481Ile) c.82484G>T (p.Arg27495Ile) c.64100G>T (p.Arg21367Ile) c.85595G>T (p.Arg28532Ile) c.85592G>T (p.Arg28531Ile) c.85025G>T (p.Arg28342Ile) c.82367G>T (p.Arg27456Ile) c.82286G>T (p.Arg27429Ile) c.64049G>T (p.Arg21350Ile) c.53903G>T (p.Arg17968Ile) | |
2 | g.178551746C= | CA1310521191 | TTN,TTN-AS1 | c.83450G= (p.Arg27817=) c.64535G= (p.Arg21512=) c.64334G= (p.Arg21445=) c.63959G= (p.Arg21320=) c.91154G= (p.Arg30385=) c.86231G= (p.Arg28744=) n.447-19554C= n.2043+9385C= c.90251G= (p.Arg30084=) c.64145G= (p.Arg21382=) c.64004G= (p.Arg21335=) c.90047G= (p.Arg30016=) c.85445G= (p.Arg28482=) c.85442G= (p.Arg28481=) c.82484G= (p.Arg27495=) c.64100G= (p.Arg21367=) c.85595G= (p.Arg28532=) c.85592G= (p.Arg28531=) c.85025G= (p.Arg28342=) c.82367G= (p.Arg27456=) c.82286G= (p.Arg27429=) c.64049G= (p.Arg21350=) c.53903G= (p.Arg17968=) | |
2 | g.178551746C>G | CA1987682 | TTN,TTN-AS1 | c.83450G>C (p.Arg27817Thr) c.64535G>C (p.Arg21512Thr) c.64334G>C (p.Arg21445Thr) c.63959G>C (p.Arg21320Thr) c.91154G>C (p.Arg30385Thr) c.86231G>C (p.Arg28744Thr) n.447-19554C>G n.2043+9385C>G c.90251G>C (p.Arg30084Thr) c.64145G>C (p.Arg21382Thr) c.64004G>C (p.Arg21335Thr) c.90047G>C (p.Arg30016Thr) c.85445G>C (p.Arg28482Thr) c.85442G>C (p.Arg28481Thr) c.82484G>C (p.Arg27495Thr) c.64100G>C (p.Arg21367Thr) c.85595G>C (p.Arg28532Thr) c.85592G>C (p.Arg28531Thr) c.85025G>C (p.Arg28342Thr) c.82367G>C (p.Arg27456Thr) c.82286G>C (p.Arg27429Thr) c.64049G>C (p.Arg21350Thr) c.53903G>C (p.Arg17968Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.178551746C>T | CA349503402 | TTN,TTN-AS1 | c.83450G>A (p.Arg27817Lys) c.64535G>A (p.Arg21512Lys) c.64334G>A (p.Arg21445Lys) c.63959G>A (p.Arg21320Lys) c.91154G>A (p.Arg30385Lys) c.86231G>A (p.Arg28744Lys) n.447-19554C>T n.2043+9385C>T c.90251G>A (p.Arg30084Lys) c.64145G>A (p.Arg21382Lys) c.64004G>A (p.Arg21335Lys) c.90047G>A (p.Arg30016Lys) c.85445G>A (p.Arg28482Lys) c.85442G>A (p.Arg28481Lys) c.82484G>A (p.Arg27495Lys) c.64100G>A (p.Arg21367Lys) c.85595G>A (p.Arg28532Lys) c.85592G>A (p.Arg28531Lys) c.85025G>A (p.Arg28342Lys) c.82367G>A (p.Arg27456Lys) c.82286G>A (p.Arg27429Lys) c.64049G>A (p.Arg21350Lys) c.53903G>A (p.Arg17968Lys) | |
2 | g.178551747T>A | CA349503409 | TTN,TTN-AS1 | c.83449A>T (p.Arg27817Ter) c.64534A>T (p.Arg21512Ter) c.64333A>T (p.Arg21445Ter) c.63958A>T (p.Arg21320Ter) c.91153A>T (p.Arg30385Ter) c.86230A>T (p.Arg28744Ter) n.447-19553T>A n.2043+9386T>A c.90250A>T (p.Arg30084Ter) c.64144A>T (p.Arg21382Ter) c.64003A>T (p.Arg21335Ter) c.90046A>T (p.Arg30016Ter) c.85444A>T (p.Arg28482Ter) c.85441A>T (p.Arg28481Ter) c.82483A>T (p.Arg27495Ter) c.64099A>T (p.Arg21367Ter) c.85594A>T (p.Arg28532Ter) c.85591A>T (p.Arg28531Ter) c.85024A>T (p.Arg28342Ter) c.82366A>T (p.Arg27456Ter) c.82285A>T (p.Arg27429Ter) c.64048A>T (p.Arg21350Ter) c.53902A>T (p.Arg17968Ter) | |
2 | g.178551747T>C | CA60977136 | TTN,TTN-AS1 | c.83449A>G (p.Arg27817Gly) c.64534A>G (p.Arg21512Gly) c.64333A>G (p.Arg21445Gly) c.63958A>G (p.Arg21320Gly) c.91153A>G (p.Arg30385Gly) c.86230A>G (p.Arg28744Gly) n.447-19553T>C n.2043+9386T>C c.90250A>G (p.Arg30084Gly) c.64144A>G (p.Arg21382Gly) c.64003A>G (p.Arg21335Gly) c.90046A>G (p.Arg30016Gly) c.85444A>G (p.Arg28482Gly) c.85441A>G (p.Arg28481Gly) c.82483A>G (p.Arg27495Gly) c.64099A>G (p.Arg21367Gly) c.85594A>G (p.Arg28532Gly) c.85591A>G (p.Arg28531Gly) c.85024A>G (p.Arg28342Gly) c.82366A>G (p.Arg27456Gly) c.82285A>G (p.Arg27429Gly) c.64048A>G (p.Arg21350Gly) c.53902A>G (p.Arg17968Gly) | dbSNP |
2 | g.178551747T>G | CA430245155 | TTN,TTN-AS1 | c.83449A>C (p.Arg27817=) c.64534A>C (p.Arg21512=) c.64333A>C (p.Arg21445=) c.63958A>C (p.Arg21320=) c.91153A>C (p.Arg30385=) c.86230A>C (p.Arg28744=) n.447-19553T>G n.2043+9386T>G c.90250A>C (p.Arg30084=) c.64144A>C (p.Arg21382=) c.64003A>C (p.Arg21335=) c.90046A>C (p.Arg30016=) c.85444A>C (p.Arg28482=) c.85441A>C (p.Arg28481=) c.82483A>C (p.Arg27495=) c.64099A>C (p.Arg21367=) c.85594A>C (p.Arg28532=) c.85591A>C (p.Arg28531=) c.85024A>C (p.Arg28342=) c.82366A>C (p.Arg27456=) c.82285A>C (p.Arg27429=) c.64048A>C (p.Arg21350=) c.53902A>C (p.Arg17968=) | |
2 | g.178551747T= | CA1310521193 | TTN,TTN-AS1 | c.83449A= (p.Arg27817=) c.64534A= (p.Arg21512=) c.64333A= (p.Arg21445=) c.63958A= (p.Arg21320=) c.91153A= (p.Arg30385=) c.86230A= (p.Arg28744=) n.447-19553T= n.2043+9386T= c.90250A= (p.Arg30084=) c.64144A= (p.Arg21382=) c.64003A= (p.Arg21335=) c.90046A= (p.Arg30016=) c.85444A= (p.Arg28482=) c.85441A= (p.Arg28481=) c.82483A= (p.Arg27495=) c.64099A= (p.Arg21367=) c.85594A= (p.Arg28532=) c.85591A= (p.Arg28531=) c.85024A= (p.Arg28342=) c.82366A= (p.Arg27456=) c.82285A= (p.Arg27429=) c.64048A= (p.Arg21350=) c.53902A= (p.Arg17968=) | |
2 | g.178551747_178551748delinsCT | CA2586970719 | TTN,TTN-AS1 | c.83448_83449delinsAG (p.Tyr27816Ter) c.64533_64534delinsAG (p.Tyr21511Ter) c.64332_64333delinsAG (p.Tyr21444Ter) c.63957_63958delinsAG (p.Tyr21319Ter) c.91152_91153delinsAG (p.Tyr30384Ter) c.86229_86230delinsAG (p.Tyr28743Ter) n.447-19553_447-19552delinsCT n.2043+9386_2043+9387delinsCT c.90249_90250delinsAG (p.Tyr30083Ter) c.64143_64144delinsAG (p.Tyr21381Ter) c.64002_64003delinsAG (p.Tyr21334Ter) c.90045_90046delinsAG (p.Tyr30015Ter) c.85443_85444delinsAG (p.Tyr28481Ter) c.85440_85441delinsAG (p.Tyr28480Ter) c.82482_82483delinsAG (p.Tyr27494Ter) c.64098_64099delinsAG (p.Tyr21366Ter) c.85593_85594delinsAG (p.Tyr28531Ter) c.85590_85591delinsAG (p.Tyr28530Ter) c.85023_85024delinsAG (p.Tyr28341Ter) c.82365_82366delinsAG (p.Tyr27455Ter) c.82284_82285delinsAG (p.Tyr27428Ter) c.64047_64048delinsAG (p.Tyr21349Ter) c.53901_53902delinsAG (p.Tyr17967Ter) | |
2 | g.178551748A= | CA1310521195 | TTN,TTN-AS1 | c.83448T= (p.Tyr27816=) c.64533T= (p.Tyr21511=) c.64332T= (p.Tyr21444=) c.63957T= (p.Tyr21319=) c.91152T= (p.Tyr30384=) c.86229T= (p.Tyr28743=) n.447-19552A= n.2043+9387A= c.90249T= (p.Tyr30083=) c.64143T= (p.Tyr21381=) c.64002T= (p.Tyr21334=) c.90045T= (p.Tyr30015=) c.85443T= (p.Tyr28481=) c.85440T= (p.Tyr28480=) c.82482T= (p.Tyr27494=) c.64098T= (p.Tyr21366=) c.85593T= (p.Tyr28531=) c.85590T= (p.Tyr28530=) c.85023T= (p.Tyr28341=) c.82365T= (p.Tyr27455=) c.82284T= (p.Tyr27428=) c.64047T= (p.Tyr21349=) c.53901T= (p.Tyr17967=) | |
2 | g.178551748A>C | CA349503415 | TTN,TTN-AS1 | c.83448T>G (p.Tyr27816Ter) c.64533T>G (p.Tyr21511Ter) c.64332T>G (p.Tyr21444Ter) c.63957T>G (p.Tyr21319Ter) c.91152T>G (p.Tyr30384Ter) c.86229T>G (p.Tyr28743Ter) n.447-19552A>C n.2043+9387A>C c.90249T>G (p.Tyr30083Ter) c.64143T>G (p.Tyr21381Ter) c.64002T>G (p.Tyr21334Ter) c.90045T>G (p.Tyr30015Ter) c.85443T>G (p.Tyr28481Ter) c.85440T>G (p.Tyr28480Ter) c.82482T>G (p.Tyr27494Ter) c.64098T>G (p.Tyr21366Ter) c.85593T>G (p.Tyr28531Ter) c.85590T>G (p.Tyr28530Ter) c.85023T>G (p.Tyr28341Ter) c.82365T>G (p.Tyr27455Ter) c.82284T>G (p.Tyr27428Ter) c.64047T>G (p.Tyr21349Ter) c.53901T>G (p.Tyr17967Ter) | |
2 | g.178551748A>G | CA430245156 | TTN,TTN-AS1 | c.83448T>C (p.Tyr27816=) c.64533T>C (p.Tyr21511=) c.64332T>C (p.Tyr21444=) c.63957T>C (p.Tyr21319=) c.91152T>C (p.Tyr30384=) c.86229T>C (p.Tyr28743=) n.447-19552A>G n.2043+9387A>G c.90249T>C (p.Tyr30083=) c.64143T>C (p.Tyr21381=) c.64002T>C (p.Tyr21334=) c.90045T>C (p.Tyr30015=) c.85443T>C (p.Tyr28481=) c.85440T>C (p.Tyr28480=) c.82482T>C (p.Tyr27494=) c.64098T>C (p.Tyr21366=) c.85593T>C (p.Tyr28531=) c.85590T>C (p.Tyr28530=) c.85023T>C (p.Tyr28341=) c.82365T>C (p.Tyr27455=) c.82284T>C (p.Tyr27428=) c.64047T>C (p.Tyr21349=) c.53901T>C (p.Tyr17967=) | ClinVar dbSNP gnomAD v4 |
2 | g.178551748A>T | CA60977137 | TTN,TTN-AS1 | c.83448T>A (p.Tyr27816Ter) c.64533T>A (p.Tyr21511Ter) c.64332T>A (p.Tyr21444Ter) c.63957T>A (p.Tyr21319Ter) c.91152T>A (p.Tyr30384Ter) c.86229T>A (p.Tyr28743Ter) n.447-19552A>T n.2043+9387A>T c.90249T>A (p.Tyr30083Ter) c.64143T>A (p.Tyr21381Ter) c.64002T>A (p.Tyr21334Ter) c.90045T>A (p.Tyr30015Ter) c.85443T>A (p.Tyr28481Ter) c.85440T>A (p.Tyr28480Ter) c.82482T>A (p.Tyr27494Ter) c.64098T>A (p.Tyr21366Ter) c.85593T>A (p.Tyr28531Ter) c.85590T>A (p.Tyr28530Ter) c.85023T>A (p.Tyr28341Ter) c.82365T>A (p.Tyr27455Ter) c.82284T>A (p.Tyr27428Ter) c.64047T>A (p.Tyr21349Ter) c.53901T>A (p.Tyr17967Ter) | ClinVar dbSNP |
2 | g.178551749T>A | CA349503436 | TTN,TTN-AS1 | c.83447A>T (p.Tyr27816Phe) c.64532A>T (p.Tyr21511Phe) c.64331A>T (p.Tyr21444Phe) c.63956A>T (p.Tyr21319Phe) c.91151A>T (p.Tyr30384Phe) c.86228A>T (p.Tyr28743Phe) n.447-19551T>A n.2043+9388T>A c.90248A>T (p.Tyr30083Phe) c.64142A>T (p.Tyr21381Phe) c.64001A>T (p.Tyr21334Phe) c.90044A>T (p.Tyr30015Phe) c.85442A>T (p.Tyr28481Phe) c.85439A>T (p.Tyr28480Phe) c.82481A>T (p.Tyr27494Phe) c.64097A>T (p.Tyr21366Phe) c.85592A>T (p.Tyr28531Phe) c.85589A>T (p.Tyr28530Phe) c.85022A>T (p.Tyr28341Phe) c.82364A>T (p.Tyr27455Phe) c.82283A>T (p.Tyr27428Phe) c.64046A>T (p.Tyr21349Phe) c.53900A>T (p.Tyr17967Phe) | |
2 | g.178551749T>C | CA349503430 | TTN,TTN-AS1 | c.83447A>G (p.Tyr27816Cys) c.64532A>G (p.Tyr21511Cys) c.64331A>G (p.Tyr21444Cys) c.63956A>G (p.Tyr21319Cys) c.91151A>G (p.Tyr30384Cys) c.86228A>G (p.Tyr28743Cys) n.447-19551T>C n.2043+9388T>C c.90248A>G (p.Tyr30083Cys) c.64142A>G (p.Tyr21381Cys) c.64001A>G (p.Tyr21334Cys) c.90044A>G (p.Tyr30015Cys) c.85442A>G (p.Tyr28481Cys) c.85439A>G (p.Tyr28480Cys) c.82481A>G (p.Tyr27494Cys) c.64097A>G (p.Tyr21366Cys) c.85592A>G (p.Tyr28531Cys) c.85589A>G (p.Tyr28530Cys) c.85022A>G (p.Tyr28341Cys) c.82364A>G (p.Tyr27455Cys) c.82283A>G (p.Tyr27428Cys) c.64046A>G (p.Tyr21349Cys) c.53900A>G (p.Tyr17967Cys) | |
2 | g.178551749T>G | CA349503426 | TTN,TTN-AS1 | c.83447A>C (p.Tyr27816Ser) c.64532A>C (p.Tyr21511Ser) c.64331A>C (p.Tyr21444Ser) c.63956A>C (p.Tyr21319Ser) c.91151A>C (p.Tyr30384Ser) c.86228A>C (p.Tyr28743Ser) n.447-19551T>G n.2043+9388T>G c.90248A>C (p.Tyr30083Ser) c.64142A>C (p.Tyr21381Ser) c.64001A>C (p.Tyr21334Ser) c.90044A>C (p.Tyr30015Ser) c.85442A>C (p.Tyr28481Ser) c.85439A>C (p.Tyr28480Ser) c.82481A>C (p.Tyr27494Ser) c.64097A>C (p.Tyr21366Ser) c.85592A>C (p.Tyr28531Ser) c.85589A>C (p.Tyr28530Ser) c.85022A>C (p.Tyr28341Ser) c.82364A>C (p.Tyr27455Ser) c.82283A>C (p.Tyr27428Ser) c.64046A>C (p.Tyr21349Ser) c.53900A>C (p.Tyr17967Ser) | |
2 | g.178551750A>C | CA349503440 | TTN,TTN-AS1 | c.83446T>G (p.Tyr27816Asp) c.64531T>G (p.Tyr21511Asp) c.64330T>G (p.Tyr21444Asp) c.63955T>G (p.Tyr21319Asp) c.91150T>G (p.Tyr30384Asp) c.86227T>G (p.Tyr28743Asp) n.447-19550A>C n.2043+9389A>C c.90247T>G (p.Tyr30083Asp) c.64141T>G (p.Tyr21381Asp) c.64000T>G (p.Tyr21334Asp) c.90043T>G (p.Tyr30015Asp) c.85441T>G (p.Tyr28481Asp) c.85438T>G (p.Tyr28480Asp) c.82480T>G (p.Tyr27494Asp) c.64096T>G (p.Tyr21366Asp) c.85591T>G (p.Tyr28531Asp) c.85588T>G (p.Tyr28530Asp) c.85021T>G (p.Tyr28341Asp) c.82363T>G (p.Tyr27455Asp) c.82282T>G (p.Tyr27428Asp) c.64045T>G (p.Tyr21349Asp) c.53899T>G (p.Tyr17967Asp) | |
2 | g.178551750A>G | CA349503441 | TTN,TTN-AS1 | c.83446T>C (p.Tyr27816His) c.64531T>C (p.Tyr21511His) c.64330T>C (p.Tyr21444His) c.63955T>C (p.Tyr21319His) c.91150T>C (p.Tyr30384His) c.86227T>C (p.Tyr28743His) n.447-19550A>G n.2043+9389A>G c.90247T>C (p.Tyr30083His) c.64141T>C (p.Tyr21381His) c.64000T>C (p.Tyr21334His) c.90043T>C (p.Tyr30015His) c.85441T>C (p.Tyr28481His) c.85438T>C (p.Tyr28480His) c.82480T>C (p.Tyr27494His) c.64096T>C (p.Tyr21366His) c.85591T>C (p.Tyr28531His) c.85588T>C (p.Tyr28530His) c.85021T>C (p.Tyr28341His) c.82363T>C (p.Tyr27455His) c.82282T>C (p.Tyr27428His) c.64045T>C (p.Tyr21349His) c.53899T>C (p.Tyr17967His) | |
2 | g.178551750A>T | CA349503442 | TTN,TTN-AS1 | c.83446T>A (p.Tyr27816Asn) c.64531T>A (p.Tyr21511Asn) c.64330T>A (p.Tyr21444Asn) c.63955T>A (p.Tyr21319Asn) c.91150T>A (p.Tyr30384Asn) c.86227T>A (p.Tyr28743Asn) n.447-19550A>T n.2043+9389A>T c.90247T>A (p.Tyr30083Asn) c.64141T>A (p.Tyr21381Asn) c.64000T>A (p.Tyr21334Asn) c.90043T>A (p.Tyr30015Asn) c.85441T>A (p.Tyr28481Asn) c.85438T>A (p.Tyr28480Asn) c.82480T>A (p.Tyr27494Asn) c.64096T>A (p.Tyr21366Asn) c.85591T>A (p.Tyr28531Asn) c.85588T>A (p.Tyr28530Asn) c.85021T>A (p.Tyr28341Asn) c.82363T>A (p.Tyr27455Asn) c.82282T>A (p.Tyr27428Asn) c.64045T>A (p.Tyr21349Asn) c.53899T>A (p.Tyr17967Asn) | |
2 | g.178551751T>A | CA349503444 | TTN,TTN-AS1 | c.83445A>T (p.Glu27815Asp) c.64530A>T (p.Glu21510Asp) c.64329A>T (p.Glu21443Asp) c.63954A>T (p.Glu21318Asp) c.91149A>T (p.Glu30383Asp) c.86226A>T (p.Glu28742Asp) n.447-19549T>A n.2043+9390T>A c.90246A>T (p.Glu30082Asp) c.64140A>T (p.Glu21380Asp) c.63999A>T (p.Glu21333Asp) c.90042A>T (p.Glu30014Asp) c.85440A>T (p.Glu28480Asp) c.85437A>T (p.Glu28479Asp) c.82479A>T (p.Glu27493Asp) c.64095A>T (p.Glu21365Asp) c.85590A>T (p.Glu28530Asp) c.85587A>T (p.Glu28529Asp) c.85020A>T (p.Glu28340Asp) c.82362A>T (p.Glu27454Asp) c.82281A>T (p.Glu27427Asp) c.64044A>T (p.Glu21348Asp) c.53898A>T (p.Glu17966Asp) | |
2 | g.178551751T>C | CA430245161 | TTN,TTN-AS1 | c.83445A>G (p.Glu27815=) c.64530A>G (p.Glu21510=) c.64329A>G (p.Glu21443=) c.63954A>G (p.Glu21318=) c.91149A>G (p.Glu30383=) c.86226A>G (p.Glu28742=) n.447-19549T>C n.2043+9390T>C c.90246A>G (p.Glu30082=) c.64140A>G (p.Glu21380=) c.63999A>G (p.Glu21333=) c.90042A>G (p.Glu30014=) c.85440A>G (p.Glu28480=) c.85437A>G (p.Glu28479=) c.82479A>G (p.Glu27493=) c.64095A>G (p.Glu21365=) c.85590A>G (p.Glu28530=) c.85587A>G (p.Glu28529=) c.85020A>G (p.Glu28340=) c.82362A>G (p.Glu27454=) c.82281A>G (p.Glu27427=) c.64044A>G (p.Glu21348=) c.53898A>G (p.Glu17966=) | |
2 | g.178551751T>G | CA349503445 | TTN,TTN-AS1 | c.83445A>C (p.Glu27815Asp) c.64530A>C (p.Glu21510Asp) c.64329A>C (p.Glu21443Asp) c.63954A>C (p.Glu21318Asp) c.91149A>C (p.Glu30383Asp) c.86226A>C (p.Glu28742Asp) n.447-19549T>G n.2043+9390T>G c.90246A>C (p.Glu30082Asp) c.64140A>C (p.Glu21380Asp) c.63999A>C (p.Glu21333Asp) c.90042A>C (p.Glu30014Asp) c.85440A>C (p.Glu28480Asp) c.85437A>C (p.Glu28479Asp) c.82479A>C (p.Glu27493Asp) c.64095A>C (p.Glu21365Asp) c.85590A>C (p.Glu28530Asp) c.85587A>C (p.Glu28529Asp) c.85020A>C (p.Glu28340Asp) c.82362A>C (p.Glu27454Asp) c.82281A>C (p.Glu27427Asp) c.64044A>C (p.Glu21348Asp) c.53898A>C (p.Glu17966Asp) | |
2 | g.178551752T>A | CA349503447 | TTN,TTN-AS1 | c.83444A>T (p.Glu27815Val) c.64529A>T (p.Glu21510Val) c.64328A>T (p.Glu21443Val) c.63953A>T (p.Glu21318Val) c.91148A>T (p.Glu30383Val) c.86225A>T (p.Glu28742Val) n.447-19548T>A n.2043+9391T>A c.90245A>T (p.Glu30082Val) c.64139A>T (p.Glu21380Val) c.63998A>T (p.Glu21333Val) c.90041A>T (p.Glu30014Val) c.85439A>T (p.Glu28480Val) c.85436A>T (p.Glu28479Val) c.82478A>T (p.Glu27493Val) c.64094A>T (p.Glu21365Val) c.85589A>T (p.Glu28530Val) c.85586A>T (p.Glu28529Val) c.85019A>T (p.Glu28340Val) c.82361A>T (p.Glu27454Val) c.82280A>T (p.Glu27427Val) c.64043A>T (p.Glu21348Val) c.53897A>T (p.Glu17966Val) | |
2 | g.178551752T>C | CA349503452 | TTN,TTN-AS1 | c.83444A>G (p.Glu27815Gly) c.64529A>G (p.Glu21510Gly) c.64328A>G (p.Glu21443Gly) c.63953A>G (p.Glu21318Gly) c.91148A>G (p.Glu30383Gly) c.86225A>G (p.Glu28742Gly) n.447-19548T>C n.2043+9391T>C c.90245A>G (p.Glu30082Gly) c.64139A>G (p.Glu21380Gly) c.63998A>G (p.Glu21333Gly) c.90041A>G (p.Glu30014Gly) c.85439A>G (p.Glu28480Gly) c.85436A>G (p.Glu28479Gly) c.82478A>G (p.Glu27493Gly) c.64094A>G (p.Glu21365Gly) c.85589A>G (p.Glu28530Gly) c.85586A>G (p.Glu28529Gly) c.85019A>G (p.Glu28340Gly) c.82361A>G (p.Glu27454Gly) c.82280A>G (p.Glu27427Gly) c.64043A>G (p.Glu21348Gly) c.53897A>G (p.Glu17966Gly) | |
2 | g.178551752T>G | CA349503456 | TTN,TTN-AS1 | c.83444A>C (p.Glu27815Ala) c.64529A>C (p.Glu21510Ala) c.64328A>C (p.Glu21443Ala) c.63953A>C (p.Glu21318Ala) c.91148A>C (p.Glu30383Ala) c.86225A>C (p.Glu28742Ala) n.447-19548T>G n.2043+9391T>G c.90245A>C (p.Glu30082Ala) c.64139A>C (p.Glu21380Ala) c.63998A>C (p.Glu21333Ala) c.90041A>C (p.Glu30014Ala) c.85439A>C (p.Glu28480Ala) c.85436A>C (p.Glu28479Ala) c.82478A>C (p.Glu27493Ala) c.64094A>C (p.Glu21365Ala) c.85589A>C (p.Glu28530Ala) c.85586A>C (p.Glu28529Ala) c.85019A>C (p.Glu28340Ala) c.82361A>C (p.Glu27454Ala) c.82280A>C (p.Glu27427Ala) c.64043A>C (p.Glu21348Ala) c.53897A>C (p.Glu17966Ala) | dbSNP |
2 | g.178551752T= | CA1310521197 | TTN,TTN-AS1 | c.83444A= (p.Glu27815=) c.64529A= (p.Glu21510=) c.64328A= (p.Glu21443=) c.63953A= (p.Glu21318=) c.91148A= (p.Glu30383=) c.86225A= (p.Glu28742=) n.447-19548T= n.2043+9391T= c.90245A= (p.Glu30082=) c.64139A= (p.Glu21380=) c.63998A= (p.Glu21333=) c.90041A= (p.Glu30014=) c.85439A= (p.Glu28480=) c.85436A= (p.Glu28479=) c.82478A= (p.Glu27493=) c.64094A= (p.Glu21365=) c.85589A= (p.Glu28530=) c.85586A= (p.Glu28529=) c.85019A= (p.Glu28340=) c.82361A= (p.Glu27454=) c.82280A= (p.Glu27427=) c.64043A= (p.Glu21348=) c.53897A= (p.Glu17966=) | |
2 | g.178551753C>A | CA349503462 | TTN,TTN-AS1 | c.83443G>T (p.Glu27815Ter) c.64528G>T (p.Glu21510Ter) c.64327G>T (p.Glu21443Ter) c.63952G>T (p.Glu21318Ter) c.91147G>T (p.Glu30383Ter) c.86224G>T (p.Glu28742Ter) n.447-19547C>A n.2043+9392C>A c.90244G>T (p.Glu30082Ter) c.64138G>T (p.Glu21380Ter) c.63997G>T (p.Glu21333Ter) c.90040G>T (p.Glu30014Ter) c.85438G>T (p.Glu28480Ter) c.85435G>T (p.Glu28479Ter) c.82477G>T (p.Glu27493Ter) c.64093G>T (p.Glu21365Ter) c.85588G>T (p.Glu28530Ter) c.85585G>T (p.Glu28529Ter) c.85018G>T (p.Glu28340Ter) c.82360G>T (p.Glu27454Ter) c.82279G>T (p.Glu27427Ter) c.64042G>T (p.Glu21348Ter) c.53896G>T (p.Glu17966Ter) | |
2 | g.178551753C= | CA1310521199 | TTN,TTN-AS1 | c.83443G= (p.Glu27815=) c.64528G= (p.Glu21510=) c.64327G= (p.Glu21443=) c.63952G= (p.Glu21318=) c.91147G= (p.Glu30383=) c.86224G= (p.Glu28742=) n.447-19547C= n.2043+9392C= c.90244G= (p.Glu30082=) c.64138G= (p.Glu21380=) c.63997G= (p.Glu21333=) c.90040G= (p.Glu30014=) c.85438G= (p.Glu28480=) c.85435G= (p.Glu28479=) c.82477G= (p.Glu27493=) c.64093G= (p.Glu21365=) c.85588G= (p.Glu28530=) c.85585G= (p.Glu28529=) c.85018G= (p.Glu28340=) c.82360G= (p.Glu27454=) c.82279G= (p.Glu27427=) c.64042G= (p.Glu21348=) c.53896G= (p.Glu17966=) | |
2 | g.178551753C>G | CA1987683 | TTN,TTN-AS1 | c.83443G>C (p.Glu27815Gln) c.64528G>C (p.Glu21510Gln) c.64327G>C (p.Glu21443Gln) c.63952G>C (p.Glu21318Gln) c.91147G>C (p.Glu30383Gln) c.86224G>C (p.Glu28742Gln) n.447-19547C>G n.2043+9392C>G c.90244G>C (p.Glu30082Gln) c.64138G>C (p.Glu21380Gln) c.63997G>C (p.Glu21333Gln) c.90040G>C (p.Glu30014Gln) c.85438G>C (p.Glu28480Gln) c.85435G>C (p.Glu28479Gln) c.82477G>C (p.Glu27493Gln) c.64093G>C (p.Glu21365Gln) c.85588G>C (p.Glu28530Gln) c.85585G>C (p.Glu28529Gln) c.85018G>C (p.Glu28340Gln) c.82360G>C (p.Glu27454Gln) c.82279G>C (p.Glu27427Gln) c.64042G>C (p.Glu21348Gln) c.53896G>C (p.Glu17966Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.178551753C>T | CA349503466 | TTN,TTN-AS1 | c.83443G>A (p.Glu27815Lys) c.64528G>A (p.Glu21510Lys) c.64327G>A (p.Glu21443Lys) c.63952G>A (p.Glu21318Lys) c.91147G>A (p.Glu30383Lys) c.86224G>A (p.Glu28742Lys) n.447-19547C>T n.2043+9392C>T c.90244G>A (p.Glu30082Lys) c.64138G>A (p.Glu21380Lys) c.63997G>A (p.Glu21333Lys) c.90040G>A (p.Glu30014Lys) c.85438G>A (p.Glu28480Lys) c.85435G>A (p.Glu28479Lys) c.82477G>A (p.Glu27493Lys) c.64093G>A (p.Glu21365Lys) c.85588G>A (p.Glu28530Lys) c.85585G>A (p.Glu28529Lys) c.85018G>A (p.Glu28340Lys) c.82360G>A (p.Glu27454Lys) c.82279G>A (p.Glu27427Lys) c.64042G>A (p.Glu21348Lys) c.53896G>A (p.Glu17966Lys) | |
2 | g.178551754T>A | CA349503468 | TTN,TTN-AS1 | c.83442A>T (p.Arg27814Ser) c.64527A>T (p.Arg21509Ser) c.64326A>T (p.Arg21442Ser) c.63951A>T (p.Arg21317Ser) c.91146A>T (p.Arg30382Ser) c.86223A>T (p.Arg28741Ser) n.447-19546T>A n.2043+9393T>A c.90243A>T (p.Arg30081Ser) c.64137A>T (p.Arg21379Ser) c.63996A>T (p.Arg21332Ser) c.90039A>T (p.Arg30013Ser) c.85437A>T (p.Arg28479Ser) c.85434A>T (p.Arg28478Ser) c.82476A>T (p.Arg27492Ser) c.64092A>T (p.Arg21364Ser) c.85587A>T (p.Arg28529Ser) c.85584A>T (p.Arg28528Ser) c.85017A>T (p.Arg28339Ser) c.82359A>T (p.Arg27453Ser) c.82278A>T (p.Arg27426Ser) c.64041A>T (p.Arg21347Ser) c.53895A>T (p.Arg17965Ser) | |
2 | g.178551754T>C | CA430245163 | TTN,TTN-AS1 | c.83442A>G (p.Arg27814=) c.64527A>G (p.Arg21509=) c.64326A>G (p.Arg21442=) c.63951A>G (p.Arg21317=) c.91146A>G (p.Arg30382=) c.86223A>G (p.Arg28741=) n.447-19546T>C n.2043+9393T>C c.90243A>G (p.Arg30081=) c.64137A>G (p.Arg21379=) c.63996A>G (p.Arg21332=) c.90039A>G (p.Arg30013=) c.85437A>G (p.Arg28479=) c.85434A>G (p.Arg28478=) c.82476A>G (p.Arg27492=) c.64092A>G (p.Arg21364=) c.85587A>G (p.Arg28529=) c.85584A>G (p.Arg28528=) c.85017A>G (p.Arg28339=) c.82359A>G (p.Arg27453=) c.82278A>G (p.Arg27426=) c.64041A>G (p.Arg21347=) c.53895A>G (p.Arg17965=) | |
2 | g.178551754T>G | CA1987684 | TTN,TTN-AS1 | c.83442A>C (p.Arg27814Ser) c.64527A>C (p.Arg21509Ser) c.64326A>C (p.Arg21442Ser) c.63951A>C (p.Arg21317Ser) c.91146A>C (p.Arg30382Ser) c.86223A>C (p.Arg28741Ser) n.447-19546T>G n.2043+9393T>G c.90243A>C (p.Arg30081Ser) c.64137A>C (p.Arg21379Ser) c.63996A>C (p.Arg21332Ser) c.90039A>C (p.Arg30013Ser) c.85437A>C (p.Arg28479Ser) c.85434A>C (p.Arg28478Ser) c.82476A>C (p.Arg27492Ser) c.64092A>C (p.Arg21364Ser) c.85587A>C (p.Arg28529Ser) c.85584A>C (p.Arg28528Ser) c.85017A>C (p.Arg28339Ser) c.82359A>C (p.Arg27453Ser) c.82278A>C (p.Arg27426Ser) c.64041A>C (p.Arg21347Ser) c.53895A>C (p.Arg17965Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.178551754T= | CA1310521200 | TTN,TTN-AS1 | c.83442A= (p.Arg27814=) c.64527A= (p.Arg21509=) c.64326A= (p.Arg21442=) c.63951A= (p.Arg21317=) c.91146A= (p.Arg30382=) c.86223A= (p.Arg28741=) n.447-19546T= n.2043+9393T= c.90243A= (p.Arg30081=) c.64137A= (p.Arg21379=) c.63996A= (p.Arg21332=) c.90039A= (p.Arg30013=) c.85437A= (p.Arg28479=) c.85434A= (p.Arg28478=) c.82476A= (p.Arg27492=) c.64092A= (p.Arg21364=) c.85587A= (p.Arg28529=) c.85584A= (p.Arg28528=) c.85017A= (p.Arg28339=) c.82359A= (p.Arg27453=) c.82278A= (p.Arg27426=) c.64041A= (p.Arg21347=) c.53895A= (p.Arg17965=) | |
2 | g.178551755C>A | CA349503473 | TTN,TTN-AS1 | c.83441G>T (p.Arg27814Ile) c.64526G>T (p.Arg21509Ile) c.64325G>T (p.Arg21442Ile) c.63950G>T (p.Arg21317Ile) c.91145G>T (p.Arg30382Ile) c.86222G>T (p.Arg28741Ile) n.447-19545C>A n.2043+9394C>A c.90242G>T (p.Arg30081Ile) c.64136G>T (p.Arg21379Ile) c.63995G>T (p.Arg21332Ile) c.90038G>T (p.Arg30013Ile) c.85436G>T (p.Arg28479Ile) c.85433G>T (p.Arg28478Ile) c.82475G>T (p.Arg27492Ile) c.64091G>T (p.Arg21364Ile) c.85586G>T (p.Arg28529Ile) c.85583G>T (p.Arg28528Ile) c.85016G>T (p.Arg28339Ile) c.82358G>T (p.Arg27453Ile) c.82277G>T (p.Arg27426Ile) c.64040G>T (p.Arg21347Ile) c.53894G>T (p.Arg17965Ile) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.178551755C= | CA1310521202 | TTN,TTN-AS1 | c.83441G= (p.Arg27814=) c.64526G= (p.Arg21509=) c.64325G= (p.Arg21442=) c.63950G= (p.Arg21317=) c.91145G= (p.Arg30382=) c.86222G= (p.Arg28741=) n.447-19545C= n.2043+9394C= c.90242G= (p.Arg30081=) c.64136G= (p.Arg21379=) c.63995G= (p.Arg21332=) c.90038G= (p.Arg30013=) c.85436G= (p.Arg28479=) c.85433G= (p.Arg28478=) c.82475G= (p.Arg27492=) c.64091G= (p.Arg21364=) c.85586G= (p.Arg28529=) c.85583G= (p.Arg28528=) c.85016G= (p.Arg28339=) c.82358G= (p.Arg27453=) c.82277G= (p.Arg27426=) c.64040G= (p.Arg21347=) c.53894G= (p.Arg17965=) | |
2 | g.178551755C>G | CA349503476 | TTN,TTN-AS1 | c.83441G>C (p.Arg27814Thr) c.64526G>C (p.Arg21509Thr) c.64325G>C (p.Arg21442Thr) c.63950G>C (p.Arg21317Thr) c.91145G>C (p.Arg30382Thr) c.86222G>C (p.Arg28741Thr) n.447-19545C>G n.2043+9394C>G c.90242G>C (p.Arg30081Thr) c.64136G>C (p.Arg21379Thr) c.63995G>C (p.Arg21332Thr) c.90038G>C (p.Arg30013Thr) c.85436G>C (p.Arg28479Thr) c.85433G>C (p.Arg28478Thr) c.82475G>C (p.Arg27492Thr) c.64091G>C (p.Arg21364Thr) c.85586G>C (p.Arg28529Thr) c.85583G>C (p.Arg28528Thr) c.85016G>C (p.Arg28339Thr) c.82358G>C (p.Arg27453Thr) c.82277G>C (p.Arg27426Thr) c.64040G>C (p.Arg21347Thr) c.53894G>C (p.Arg17965Thr) | |
2 | g.178551755C>T | CA349503471 | TTN,TTN-AS1 | c.83441G>A (p.Arg27814Lys) c.64526G>A (p.Arg21509Lys) c.64325G>A (p.Arg21442Lys) c.63950G>A (p.Arg21317Lys) c.91145G>A (p.Arg30382Lys) c.86222G>A (p.Arg28741Lys) n.447-19545C>T n.2043+9394C>T c.90242G>A (p.Arg30081Lys) c.64136G>A (p.Arg21379Lys) c.63995G>A (p.Arg21332Lys) c.90038G>A (p.Arg30013Lys) c.85436G>A (p.Arg28479Lys) c.85433G>A (p.Arg28478Lys) c.82475G>A (p.Arg27492Lys) c.64091G>A (p.Arg21364Lys) c.85586G>A (p.Arg28529Lys) c.85583G>A (p.Arg28528Lys) c.85016G>A (p.Arg28339Lys) c.82358G>A (p.Arg27453Lys) c.82277G>A (p.Arg27426Lys) c.64040G>A (p.Arg21347Lys) c.53894G>A (p.Arg17965Lys) | |
2 | g.178551756T>A | CA349503478 | TTN,TTN-AS1 | c.83440A>T (p.Arg27814Ter) c.64525A>T (p.Arg21509Ter) c.64324A>T (p.Arg21442Ter) c.63949A>T (p.Arg21317Ter) c.91144A>T (p.Arg30382Ter) c.86221A>T (p.Arg28741Ter) n.447-19544T>A n.2043+9395T>A c.90241A>T (p.Arg30081Ter) c.64135A>T (p.Arg21379Ter) c.63994A>T (p.Arg21332Ter) c.90037A>T (p.Arg30013Ter) c.85435A>T (p.Arg28479Ter) c.85432A>T (p.Arg28478Ter) c.82474A>T (p.Arg27492Ter) c.64090A>T (p.Arg21364Ter) c.85585A>T (p.Arg28529Ter) c.85582A>T (p.Arg28528Ter) c.85015A>T (p.Arg28339Ter) c.82357A>T (p.Arg27453Ter) c.82276A>T (p.Arg27426Ter) c.64039A>T (p.Arg21347Ter) c.53893A>T (p.Arg17965Ter) | |
2 | g.178551756T>C | CA349503480 | TTN,TTN-AS1 | c.83440A>G (p.Arg27814Gly) c.64525A>G (p.Arg21509Gly) c.64324A>G (p.Arg21442Gly) c.63949A>G (p.Arg21317Gly) c.91144A>G (p.Arg30382Gly) c.86221A>G (p.Arg28741Gly) n.447-19544T>C n.2043+9395T>C c.90241A>G (p.Arg30081Gly) c.64135A>G (p.Arg21379Gly) c.63994A>G (p.Arg21332Gly) c.90037A>G (p.Arg30013Gly) c.85435A>G (p.Arg28479Gly) c.85432A>G (p.Arg28478Gly) c.82474A>G (p.Arg27492Gly) c.64090A>G (p.Arg21364Gly) c.85585A>G (p.Arg28529Gly) c.85582A>G (p.Arg28528Gly) c.85015A>G (p.Arg28339Gly) c.82357A>G (p.Arg27453Gly) c.82276A>G (p.Arg27426Gly) c.64039A>G (p.Arg21347Gly) c.53893A>G (p.Arg17965Gly) | gnomAD v4 |
2 | g.178551756T>G | CA430245168 | TTN,TTN-AS1 | c.83440A>C (p.Arg27814=) c.64525A>C (p.Arg21509=) c.64324A>C (p.Arg21442=) c.63949A>C (p.Arg21317=) c.91144A>C (p.Arg30382=) c.86221A>C (p.Arg28741=) n.447-19544T>G n.2043+9395T>G c.90241A>C (p.Arg30081=) c.64135A>C (p.Arg21379=) c.63994A>C (p.Arg21332=) c.90037A>C (p.Arg30013=) c.85435A>C (p.Arg28479=) c.85432A>C (p.Arg28478=) c.82474A>C (p.Arg27492=) c.64090A>C (p.Arg21364=) c.85585A>C (p.Arg28529=) c.85582A>C (p.Arg28528=) c.85015A>C (p.Arg28339=) c.82357A>C (p.Arg27453=) c.82276A>C (p.Arg27426=) c.64039A>C (p.Arg21347=) c.53893A>C (p.Arg17965=) | |
2 | g.178551757T>A | CA430245169 | TTN,TTN-AS1 | c.83439A>T (p.Gly27813=) c.64524A>T (p.Gly21508=) c.64323A>T (p.Gly21441=) c.63948A>T (p.Gly21316=) c.91143A>T (p.Gly30381=) c.86220A>T (p.Gly28740=) n.447-19543T>A n.2043+9396T>A c.90240A>T (p.Gly30080=) c.64134A>T (p.Gly21378=) c.63993A>T (p.Gly21331=) c.90036A>T (p.Gly30012=) c.85434A>T (p.Gly28478=) c.85431A>T (p.Gly28477=) c.82473A>T (p.Gly27491=) c.64089A>T (p.Gly21363=) c.85584A>T (p.Gly28528=) c.85581A>T (p.Gly28527=) c.85014A>T (p.Gly28338=) c.82356A>T (p.Gly27452=) c.82275A>T (p.Gly27425=) c.64038A>T (p.Gly21346=) c.53892A>T (p.Gly17964=) | |
2 | g.178551757T>C | CA430245170 | TTN,TTN-AS1 | c.83439A>G (p.Gly27813=) c.64524A>G (p.Gly21508=) c.64323A>G (p.Gly21441=) c.63948A>G (p.Gly21316=) c.91143A>G (p.Gly30381=) c.86220A>G (p.Gly28740=) n.447-19543T>C n.2043+9396T>C c.90240A>G (p.Gly30080=) c.64134A>G (p.Gly21378=) c.63993A>G (p.Gly21331=) c.90036A>G (p.Gly30012=) c.85434A>G (p.Gly28478=) c.85431A>G (p.Gly28477=) c.82473A>G (p.Gly27491=) c.64089A>G (p.Gly21363=) c.85584A>G (p.Gly28528=) c.85581A>G (p.Gly28527=) c.85014A>G (p.Gly28338=) c.82356A>G (p.Gly27452=) c.82275A>G (p.Gly27425=) c.64038A>G (p.Gly21346=) c.53892A>G (p.Gly17964=) | ClinVar dbSNP |
2 | g.178551757T>G | CA430245171 | TTN,TTN-AS1 | c.83439A>C (p.Gly27813=) c.64524A>C (p.Gly21508=) c.64323A>C (p.Gly21441=) c.63948A>C (p.Gly21316=) c.91143A>C (p.Gly30381=) c.86220A>C (p.Gly28740=) n.447-19543T>G n.2043+9396T>G c.90240A>C (p.Gly30080=) c.64134A>C (p.Gly21378=) c.63993A>C (p.Gly21331=) c.90036A>C (p.Gly30012=) c.85434A>C (p.Gly28478=) c.85431A>C (p.Gly28477=) c.82473A>C (p.Gly27491=) c.64089A>C (p.Gly21363=) c.85584A>C (p.Gly28528=) c.85581A>C (p.Gly28527=) c.85014A>C (p.Gly28338=) c.82356A>C (p.Gly27452=) c.82275A>C (p.Gly27425=) c.64038A>C (p.Gly21346=) c.53892A>C (p.Gly17964=) |