Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.178552457T>A | CA349510718 | TTN,TTN-AS1 | c.82739A>T (p.Asn27580Ile) c.63824A>T (p.Asn21275Ile) c.63623A>T (p.Asn21208Ile) c.63248A>T (p.Asn21083Ile) c.90443A>T (p.Asn30148Ile) c.85520A>T (p.Asn28507Ile) n.447-18843T>A n.2043+10096T>A c.89540A>T (p.Asn29847Ile) c.63434A>T (p.Asn21145Ile) c.63293A>T (p.Asn21098Ile) c.89336A>T (p.Asn29779Ile) c.84734A>T (p.Asn28245Ile) c.84731A>T (p.Asn28244Ile) c.81773A>T (p.Asn27258Ile) c.63389A>T (p.Asn21130Ile) c.84884A>T (p.Asn28295Ile) c.84881A>T (p.Asn28294Ile) c.84314A>T (p.Asn28105Ile) c.81656A>T (p.Asn27219Ile) c.81575A>T (p.Asn27192Ile) c.63338A>T (p.Asn21113Ile) c.53192A>T (p.Asn17731Ile) | |
2 | g.178552457T>C | CA349510734 | TTN,TTN-AS1 | c.82739A>G (p.Asn27580Ser) c.63824A>G (p.Asn21275Ser) c.63623A>G (p.Asn21208Ser) c.63248A>G (p.Asn21083Ser) c.90443A>G (p.Asn30148Ser) c.85520A>G (p.Asn28507Ser) n.447-18843T>C n.2043+10096T>C c.89540A>G (p.Asn29847Ser) c.63434A>G (p.Asn21145Ser) c.63293A>G (p.Asn21098Ser) c.89336A>G (p.Asn29779Ser) c.84734A>G (p.Asn28245Ser) c.84731A>G (p.Asn28244Ser) c.81773A>G (p.Asn27258Ser) c.63389A>G (p.Asn21130Ser) c.84884A>G (p.Asn28295Ser) c.84881A>G (p.Asn28294Ser) c.84314A>G (p.Asn28105Ser) c.81656A>G (p.Asn27219Ser) c.81575A>G (p.Asn27192Ser) c.63338A>G (p.Asn21113Ser) c.53192A>G (p.Asn17731Ser) | dbSNP gnomAD v4 |
2 | g.178552457T>G | CA349510721 | TTN,TTN-AS1 | c.82739A>C (p.Asn27580Thr) c.63824A>C (p.Asn21275Thr) c.63623A>C (p.Asn21208Thr) c.63248A>C (p.Asn21083Thr) c.90443A>C (p.Asn30148Thr) c.85520A>C (p.Asn28507Thr) n.447-18843T>G n.2043+10096T>G c.89540A>C (p.Asn29847Thr) c.63434A>C (p.Asn21145Thr) c.63293A>C (p.Asn21098Thr) c.89336A>C (p.Asn29779Thr) c.84734A>C (p.Asn28245Thr) c.84731A>C (p.Asn28244Thr) c.81773A>C (p.Asn27258Thr) c.63389A>C (p.Asn21130Thr) c.84884A>C (p.Asn28295Thr) c.84881A>C (p.Asn28294Thr) c.84314A>C (p.Asn28105Thr) c.81656A>C (p.Asn27219Thr) c.81575A>C (p.Asn27192Thr) c.63338A>C (p.Asn21113Thr) c.53192A>C (p.Asn17731Thr) | |
2 | g.178552457T= | CA1310521973 | TTN,TTN-AS1 | c.82739A= (p.Asn27580=) c.63824A= (p.Asn21275=) c.63623A= (p.Asn21208=) c.63248A= (p.Asn21083=) c.90443A= (p.Asn30148=) c.85520A= (p.Asn28507=) n.447-18843T= n.2043+10096T= c.89540A= (p.Asn29847=) c.63434A= (p.Asn21145=) c.63293A= (p.Asn21098=) c.89336A= (p.Asn29779=) c.84734A= (p.Asn28245=) c.84731A= (p.Asn28244=) c.81773A= (p.Asn27258=) c.63389A= (p.Asn21130=) c.84884A= (p.Asn28295=) c.84881A= (p.Asn28294=) c.84314A= (p.Asn28105=) c.81656A= (p.Asn27219=) c.81575A= (p.Asn27192=) c.63338A= (p.Asn21113=) c.53192A= (p.Asn17731=) | |
2 | g.178552458T>A | CA349510737 | TTN,TTN-AS1 | c.82738A>T (p.Asn27580Tyr) c.63823A>T (p.Asn21275Tyr) c.63622A>T (p.Asn21208Tyr) c.63247A>T (p.Asn21083Tyr) c.90442A>T (p.Asn30148Tyr) c.85519A>T (p.Asn28507Tyr) n.447-18842T>A n.2043+10097T>A c.89539A>T (p.Asn29847Tyr) c.63433A>T (p.Asn21145Tyr) c.63292A>T (p.Asn21098Tyr) c.89335A>T (p.Asn29779Tyr) c.84733A>T (p.Asn28245Tyr) c.84730A>T (p.Asn28244Tyr) c.81772A>T (p.Asn27258Tyr) c.63388A>T (p.Asn21130Tyr) c.84883A>T (p.Asn28295Tyr) c.84880A>T (p.Asn28294Tyr) c.84313A>T (p.Asn28105Tyr) c.81655A>T (p.Asn27219Tyr) c.81574A>T (p.Asn27192Tyr) c.63337A>T (p.Asn21113Tyr) c.53191A>T (p.Asn17731Tyr) | |
2 | g.178552458T>C | CA349510740 | TTN,TTN-AS1 | c.82738A>G (p.Asn27580Asp) c.63823A>G (p.Asn21275Asp) c.63622A>G (p.Asn21208Asp) c.63247A>G (p.Asn21083Asp) c.90442A>G (p.Asn30148Asp) c.85519A>G (p.Asn28507Asp) n.447-18842T>C n.2043+10097T>C c.89539A>G (p.Asn29847Asp) c.63433A>G (p.Asn21145Asp) c.63292A>G (p.Asn21098Asp) c.89335A>G (p.Asn29779Asp) c.84733A>G (p.Asn28245Asp) c.84730A>G (p.Asn28244Asp) c.81772A>G (p.Asn27258Asp) c.63388A>G (p.Asn21130Asp) c.84883A>G (p.Asn28295Asp) c.84880A>G (p.Asn28294Asp) c.84313A>G (p.Asn28105Asp) c.81655A>G (p.Asn27219Asp) c.81574A>G (p.Asn27192Asp) c.63337A>G (p.Asn21113Asp) c.53191A>G (p.Asn17731Asp) | |
2 | g.178552458T>G | CA349510738 | TTN,TTN-AS1 | c.82738A>C (p.Asn27580His) c.63823A>C (p.Asn21275His) c.63622A>C (p.Asn21208His) c.63247A>C (p.Asn21083His) c.90442A>C (p.Asn30148His) c.85519A>C (p.Asn28507His) n.447-18842T>G n.2043+10097T>G c.89539A>C (p.Asn29847His) c.63433A>C (p.Asn21145His) c.63292A>C (p.Asn21098His) c.89335A>C (p.Asn29779His) c.84733A>C (p.Asn28245His) c.84730A>C (p.Asn28244His) c.81772A>C (p.Asn27258His) c.63388A>C (p.Asn21130His) c.84883A>C (p.Asn28295His) c.84880A>C (p.Asn28294His) c.84313A>C (p.Asn28105His) c.81655A>C (p.Asn27219His) c.81574A>C (p.Asn27192His) c.63337A>C (p.Asn21113His) c.53191A>C (p.Asn17731His) | |
2 | g.178552459G>A | CA60977748 | TTN,TTN-AS1 | c.82737C>T (p.His27579=) c.63822C>T (p.His21274=) c.63621C>T (p.His21207=) c.63246C>T (p.His21082=) c.90441C>T (p.His30147=) c.85518C>T (p.His28506=) n.447-18841G>A n.2043+10098G>A c.89538C>T (p.His29846=) c.63432C>T (p.His21144=) c.63291C>T (p.His21097=) c.89334C>T (p.His29778=) c.84732C>T (p.His28244=) c.84729C>T (p.His28243=) c.81771C>T (p.His27257=) c.63387C>T (p.His21129=) c.84882C>T (p.His28294=) c.84879C>T (p.His28293=) c.84312C>T (p.His28104=) c.81654C>T (p.His27218=) c.81573C>T (p.His27191=) c.63336C>T (p.His21112=) c.53190C>T (p.His17730=) | dbSNP |
2 | g.178552459G>C | CA349510751 | TTN,TTN-AS1 | c.82737C>G (p.His27579Gln) c.63822C>G (p.His21274Gln) c.63621C>G (p.His21207Gln) c.63246C>G (p.His21082Gln) c.90441C>G (p.His30147Gln) c.85518C>G (p.His28506Gln) n.447-18841G>C n.2043+10098G>C c.89538C>G (p.His29846Gln) c.63432C>G (p.His21144Gln) c.63291C>G (p.His21097Gln) c.89334C>G (p.His29778Gln) c.84732C>G (p.His28244Gln) c.84729C>G (p.His28243Gln) c.81771C>G (p.His27257Gln) c.63387C>G (p.His21129Gln) c.84882C>G (p.His28294Gln) c.84879C>G (p.His28293Gln) c.84312C>G (p.His28104Gln) c.81654C>G (p.His27218Gln) c.81573C>G (p.His27191Gln) c.63336C>G (p.His21112Gln) c.53190C>G (p.His17730Gln) | |
2 | g.178552459G= | CA1310521979 | TTN,TTN-AS1 | c.82737C= (p.His27579=) c.63822C= (p.His21274=) c.63621C= (p.His21207=) c.63246C= (p.His21082=) c.90441C= (p.His30147=) c.85518C= (p.His28506=) n.447-18841G= n.2043+10098G= c.89538C= (p.His29846=) c.63432C= (p.His21144=) c.63291C= (p.His21097=) c.89334C= (p.His29778=) c.84732C= (p.His28244=) c.84729C= (p.His28243=) c.81771C= (p.His27257=) c.63387C= (p.His21129=) c.84882C= (p.His28294=) c.84879C= (p.His28293=) c.84312C= (p.His28104=) c.81654C= (p.His27218=) c.81573C= (p.His27191=) c.63336C= (p.His21112=) c.53190C= (p.His17730=) | |
2 | g.178552459G>T | CA235051 | TTN,TTN-AS1 | c.82737C>A (p.His27579Gln) c.63822C>A (p.His21274Gln) c.63621C>A (p.His21207Gln) c.63246C>A (p.His21082Gln) c.90441C>A (p.His30147Gln) c.85518C>A (p.His28506Gln) n.447-18841G>T n.2043+10098G>T c.89538C>A (p.His29846Gln) c.63432C>A (p.His21144Gln) c.63291C>A (p.His21097Gln) c.89334C>A (p.His29778Gln) c.84732C>A (p.His28244Gln) c.84729C>A (p.His28243Gln) c.81771C>A (p.His27257Gln) c.63387C>A (p.His21129Gln) c.84882C>A (p.His28294Gln) c.84879C>A (p.His28293Gln) c.84312C>A (p.His28104Gln) c.81654C>A (p.His27218Gln) c.81573C>A (p.His27191Gln) c.63336C>A (p.His21112Gln) c.53190C>A (p.His17730Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178552460T>A | CA349510756 | TTN,TTN-AS1 | c.82736A>T (p.His27579Leu) c.63821A>T (p.His21274Leu) c.63620A>T (p.His21207Leu) c.63245A>T (p.His21082Leu) c.90440A>T (p.His30147Leu) c.85517A>T (p.His28506Leu) n.447-18840T>A n.2043+10099T>A c.89537A>T (p.His29846Leu) c.63431A>T (p.His21144Leu) c.63290A>T (p.His21097Leu) c.89333A>T (p.His29778Leu) c.84731A>T (p.His28244Leu) c.84728A>T (p.His28243Leu) c.81770A>T (p.His27257Leu) c.63386A>T (p.His21129Leu) c.84881A>T (p.His28294Leu) c.84878A>T (p.His28293Leu) c.84311A>T (p.His28104Leu) c.81653A>T (p.His27218Leu) c.81572A>T (p.His27191Leu) c.63335A>T (p.His21112Leu) c.53189A>T (p.His17730Leu) | |
2 | g.178552460T>C | CA349510757 | TTN,TTN-AS1 | c.82736A>G (p.His27579Arg) c.63821A>G (p.His21274Arg) c.63620A>G (p.His21207Arg) c.63245A>G (p.His21082Arg) c.90440A>G (p.His30147Arg) c.85517A>G (p.His28506Arg) n.447-18840T>C n.2043+10099T>C c.89537A>G (p.His29846Arg) c.63431A>G (p.His21144Arg) c.63290A>G (p.His21097Arg) c.89333A>G (p.His29778Arg) c.84731A>G (p.His28244Arg) c.84728A>G (p.His28243Arg) c.81770A>G (p.His27257Arg) c.63386A>G (p.His21129Arg) c.84881A>G (p.His28294Arg) c.84878A>G (p.His28293Arg) c.84311A>G (p.His28104Arg) c.81653A>G (p.His27218Arg) c.81572A>G (p.His27191Arg) c.63335A>G (p.His21112Arg) c.53189A>G (p.His17730Arg) | |
2 | g.178552460T>G | CA349510758 | TTN,TTN-AS1 | c.82736A>C (p.His27579Pro) c.63821A>C (p.His21274Pro) c.63620A>C (p.His21207Pro) c.63245A>C (p.His21082Pro) c.90440A>C (p.His30147Pro) c.85517A>C (p.His28506Pro) n.447-18840T>G n.2043+10099T>G c.89537A>C (p.His29846Pro) c.63431A>C (p.His21144Pro) c.63290A>C (p.His21097Pro) c.89333A>C (p.His29778Pro) c.84731A>C (p.His28244Pro) c.84728A>C (p.His28243Pro) c.81770A>C (p.His27257Pro) c.63386A>C (p.His21129Pro) c.84881A>C (p.His28294Pro) c.84878A>C (p.His28293Pro) c.84311A>C (p.His28104Pro) c.81653A>C (p.His27218Pro) c.81572A>C (p.His27191Pro) c.63335A>C (p.His21112Pro) c.53189A>C (p.His17730Pro) | |
2 | g.178552461G>A | CA349510759 | TTN,TTN-AS1 | c.82735C>T (p.His27579Tyr) c.63820C>T (p.His21274Tyr) c.63619C>T (p.His21207Tyr) c.63244C>T (p.His21082Tyr) c.90439C>T (p.His30147Tyr) c.85516C>T (p.His28506Tyr) n.447-18839G>A n.2043+10100G>A c.89536C>T (p.His29846Tyr) c.63430C>T (p.His21144Tyr) c.63289C>T (p.His21097Tyr) c.89332C>T (p.His29778Tyr) c.84730C>T (p.His28244Tyr) c.84727C>T (p.His28243Tyr) c.81769C>T (p.His27257Tyr) c.63385C>T (p.His21129Tyr) c.84880C>T (p.His28294Tyr) c.84877C>T (p.His28293Tyr) c.84310C>T (p.His28104Tyr) c.81652C>T (p.His27218Tyr) c.81571C>T (p.His27191Tyr) c.63334C>T (p.His21112Tyr) c.53188C>T (p.His17730Tyr) | gnomAD v4 |
2 | g.178552461G>C | CA349510760 | TTN,TTN-AS1 | c.82735C>G (p.His27579Asp) c.63820C>G (p.His21274Asp) c.63619C>G (p.His21207Asp) c.63244C>G (p.His21082Asp) c.90439C>G (p.His30147Asp) c.85516C>G (p.His28506Asp) n.447-18839G>C n.2043+10100G>C c.89536C>G (p.His29846Asp) c.63430C>G (p.His21144Asp) c.63289C>G (p.His21097Asp) c.89332C>G (p.His29778Asp) c.84730C>G (p.His28244Asp) c.84727C>G (p.His28243Asp) c.81769C>G (p.His27257Asp) c.63385C>G (p.His21129Asp) c.84880C>G (p.His28294Asp) c.84877C>G (p.His28293Asp) c.84310C>G (p.His28104Asp) c.81652C>G (p.His27218Asp) c.81571C>G (p.His27191Asp) c.63334C>G (p.His21112Asp) c.53188C>G (p.His17730Asp) | |
2 | g.178552461G>T | CA349510761 | TTN,TTN-AS1 | c.82735C>A (p.His27579Asn) c.63820C>A (p.His21274Asn) c.63619C>A (p.His21207Asn) c.63244C>A (p.His21082Asn) c.90439C>A (p.His30147Asn) c.85516C>A (p.His28506Asn) n.447-18839G>T n.2043+10100G>T c.89536C>A (p.His29846Asn) c.63430C>A (p.His21144Asn) c.63289C>A (p.His21097Asn) c.89332C>A (p.His29778Asn) c.84730C>A (p.His28244Asn) c.84727C>A (p.His28243Asn) c.81769C>A (p.His27257Asn) c.63385C>A (p.His21129Asn) c.84880C>A (p.His28294Asn) c.84877C>A (p.His28293Asn) c.84310C>A (p.His28104Asn) c.81652C>A (p.His27218Asn) c.81571C>A (p.His27191Asn) c.63334C>A (p.His21112Asn) c.53188C>A (p.His17730Asn) | |
2 | g.178552462C>A | CA430245271 | TTN,TTN-AS1 | c.82734G>T (p.Gly27578=) c.63819G>T (p.Gly21273=) c.63618G>T (p.Gly21206=) c.63243G>T (p.Gly21081=) c.90438G>T (p.Gly30146=) c.85515G>T (p.Gly28505=) n.447-18838C>A n.2043+10101C>A c.89535G>T (p.Gly29845=) c.63429G>T (p.Gly21143=) c.63288G>T (p.Gly21096=) c.89331G>T (p.Gly29777=) c.84729G>T (p.Gly28243=) c.84726G>T (p.Gly28242=) c.81768G>T (p.Gly27256=) c.63384G>T (p.Gly21128=) c.84879G>T (p.Gly28293=) c.84876G>T (p.Gly28292=) c.84309G>T (p.Gly28103=) c.81651G>T (p.Gly27217=) c.81570G>T (p.Gly27190=) c.63333G>T (p.Gly21111=) c.53187G>T (p.Gly17729=) | |
2 | g.178552462C= | CA1310521982 | TTN,TTN-AS1 | c.82734G= (p.Gly27578=) c.63819G= (p.Gly21273=) c.63618G= (p.Gly21206=) c.63243G= (p.Gly21081=) c.90438G= (p.Gly30146=) c.85515G= (p.Gly28505=) n.447-18838C= n.2043+10101C= c.89535G= (p.Gly29845=) c.63429G= (p.Gly21143=) c.63288G= (p.Gly21096=) c.89331G= (p.Gly29777=) c.84729G= (p.Gly28243=) c.84726G= (p.Gly28242=) c.81768G= (p.Gly27256=) c.63384G= (p.Gly21128=) c.84879G= (p.Gly28293=) c.84876G= (p.Gly28292=) c.84309G= (p.Gly28103=) c.81651G= (p.Gly27217=) c.81570G= (p.Gly27190=) c.63333G= (p.Gly21111=) c.53187G= (p.Gly17729=) | |
2 | g.178552462C>G | CA430245273 | TTN,TTN-AS1 | c.82734G>C (p.Gly27578=) c.63819G>C (p.Gly21273=) c.63618G>C (p.Gly21206=) c.63243G>C (p.Gly21081=) c.90438G>C (p.Gly30146=) c.85515G>C (p.Gly28505=) n.447-18838C>G n.2043+10101C>G c.89535G>C (p.Gly29845=) c.63429G>C (p.Gly21143=) c.63288G>C (p.Gly21096=) c.89331G>C (p.Gly29777=) c.84729G>C (p.Gly28243=) c.84726G>C (p.Gly28242=) c.81768G>C (p.Gly27256=) c.63384G>C (p.Gly21128=) c.84879G>C (p.Gly28293=) c.84876G>C (p.Gly28292=) c.84309G>C (p.Gly28103=) c.81651G>C (p.Gly27217=) c.81570G>C (p.Gly27190=) c.63333G>C (p.Gly21111=) c.53187G>C (p.Gly17729=) | |
2 | g.178552462C>T | CA430245274 | TTN,TTN-AS1 | c.82734G>A (p.Gly27578=) c.63819G>A (p.Gly21273=) c.63618G>A (p.Gly21206=) c.63243G>A (p.Gly21081=) c.90438G>A (p.Gly30146=) c.85515G>A (p.Gly28505=) n.447-18838C>T n.2043+10101C>T c.89535G>A (p.Gly29845=) c.63429G>A (p.Gly21143=) c.63288G>A (p.Gly21096=) c.89331G>A (p.Gly29777=) c.84729G>A (p.Gly28243=) c.84726G>A (p.Gly28242=) c.81768G>A (p.Gly27256=) c.63384G>A (p.Gly21128=) c.84879G>A (p.Gly28293=) c.84876G>A (p.Gly28292=) c.84309G>A (p.Gly28103=) c.81651G>A (p.Gly27217=) c.81570G>A (p.Gly27190=) c.63333G>A (p.Gly21111=) c.53187G>A (p.Gly17729=) | dbSNP |
2 | g.178552463C>A | CA349510762 | TTN,TTN-AS1 | c.82733G>T (p.Gly27578Val) c.63818G>T (p.Gly21273Val) c.63617G>T (p.Gly21206Val) c.63242G>T (p.Gly21081Val) c.90437G>T (p.Gly30146Val) c.85514G>T (p.Gly28505Val) n.447-18837C>A n.2043+10102C>A c.89534G>T (p.Gly29845Val) c.63428G>T (p.Gly21143Val) c.63287G>T (p.Gly21096Val) c.89330G>T (p.Gly29777Val) c.84728G>T (p.Gly28243Val) c.84725G>T (p.Gly28242Val) c.81767G>T (p.Gly27256Val) c.63383G>T (p.Gly21128Val) c.84878G>T (p.Gly28293Val) c.84875G>T (p.Gly28292Val) c.84308G>T (p.Gly28103Val) c.81650G>T (p.Gly27217Val) c.81569G>T (p.Gly27190Val) c.63332G>T (p.Gly21111Val) c.53186G>T (p.Gly17729Val) | |
2 | g.178552463C= | CA1310521986 | TTN,TTN-AS1 | c.82733G= (p.Gly27578=) c.63818G= (p.Gly21273=) c.63617G= (p.Gly21206=) c.63242G= (p.Gly21081=) c.90437G= (p.Gly30146=) c.85514G= (p.Gly28505=) n.447-18837C= n.2043+10102C= c.89534G= (p.Gly29845=) c.63428G= (p.Gly21143=) c.63287G= (p.Gly21096=) c.89330G= (p.Gly29777=) c.84728G= (p.Gly28243=) c.84725G= (p.Gly28242=) c.81767G= (p.Gly27256=) c.63383G= (p.Gly21128=) c.84878G= (p.Gly28293=) c.84875G= (p.Gly28292=) c.84308G= (p.Gly28103=) c.81650G= (p.Gly27217=) c.81569G= (p.Gly27190=) c.63332G= (p.Gly21111=) c.53186G= (p.Gly17729=) | |
2 | g.178552463C>G | CA349510763 | TTN,TTN-AS1 | c.82733G>C (p.Gly27578Ala) c.63818G>C (p.Gly21273Ala) c.63617G>C (p.Gly21206Ala) c.63242G>C (p.Gly21081Ala) c.90437G>C (p.Gly30146Ala) c.85514G>C (p.Gly28505Ala) n.447-18837C>G n.2043+10102C>G c.89534G>C (p.Gly29845Ala) c.63428G>C (p.Gly21143Ala) c.63287G>C (p.Gly21096Ala) c.89330G>C (p.Gly29777Ala) c.84728G>C (p.Gly28243Ala) c.84725G>C (p.Gly28242Ala) c.81767G>C (p.Gly27256Ala) c.63383G>C (p.Gly21128Ala) c.84878G>C (p.Gly28293Ala) c.84875G>C (p.Gly28292Ala) c.84308G>C (p.Gly28103Ala) c.81650G>C (p.Gly27217Ala) c.81569G>C (p.Gly27190Ala) c.63332G>C (p.Gly21111Ala) c.53186G>C (p.Gly17729Ala) | dbSNP |
2 | g.178552463C>T | CA1987790 | TTN,TTN-AS1 | c.82733G>A (p.Gly27578Glu) c.63818G>A (p.Gly21273Glu) c.63617G>A (p.Gly21206Glu) c.63242G>A (p.Gly21081Glu) c.90437G>A (p.Gly30146Glu) c.85514G>A (p.Gly28505Glu) n.447-18837C>T n.2043+10102C>T c.89534G>A (p.Gly29845Glu) c.63428G>A (p.Gly21143Glu) c.63287G>A (p.Gly21096Glu) c.89330G>A (p.Gly29777Glu) c.84728G>A (p.Gly28243Glu) c.84725G>A (p.Gly28242Glu) c.81767G>A (p.Gly27256Glu) c.63383G>A (p.Gly21128Glu) c.84878G>A (p.Gly28293Glu) c.84875G>A (p.Gly28292Glu) c.84308G>A (p.Gly28103Glu) c.81650G>A (p.Gly27217Glu) c.81569G>A (p.Gly27190Glu) c.63332G>A (p.Gly21111Glu) c.53186G>A (p.Gly17729Glu) | dbSNP ExAC gnomAD v2 |
2 | g.178552464C>A | CA349510765 | TTN,TTN-AS1 | c.82732G>T (p.Gly27578Trp) c.63817G>T (p.Gly21273Trp) c.63616G>T (p.Gly21206Trp) c.63241G>T (p.Gly21081Trp) c.90436G>T (p.Gly30146Trp) c.85513G>T (p.Gly28505Trp) n.447-18836C>A n.2043+10103C>A c.89533G>T (p.Gly29845Trp) c.63427G>T (p.Gly21143Trp) c.63286G>T (p.Gly21096Trp) c.89329G>T (p.Gly29777Trp) c.84727G>T (p.Gly28243Trp) c.84724G>T (p.Gly28242Trp) c.81766G>T (p.Gly27256Trp) c.63382G>T (p.Gly21128Trp) c.84877G>T (p.Gly28293Trp) c.84874G>T (p.Gly28292Trp) c.84307G>T (p.Gly28103Trp) c.81649G>T (p.Gly27217Trp) c.81568G>T (p.Gly27190Trp) c.63331G>T (p.Gly21111Trp) c.53185G>T (p.Gly17729Trp) | |
2 | g.178552464C= | CA1310521992 | TTN,TTN-AS1 | c.82732G= (p.Gly27578=) c.63817G= (p.Gly21273=) c.63616G= (p.Gly21206=) c.63241G= (p.Gly21081=) c.90436G= (p.Gly30146=) c.85513G= (p.Gly28505=) n.447-18836C= n.2043+10103C= c.89533G= (p.Gly29845=) c.63427G= (p.Gly21143=) c.63286G= (p.Gly21096=) c.89329G= (p.Gly29777=) c.84727G= (p.Gly28243=) c.84724G= (p.Gly28242=) c.81766G= (p.Gly27256=) c.63382G= (p.Gly21128=) c.84877G= (p.Gly28293=) c.84874G= (p.Gly28292=) c.84307G= (p.Gly28103=) c.81649G= (p.Gly27217=) c.81568G= (p.Gly27190=) c.63331G= (p.Gly21111=) c.53185G= (p.Gly17729=) | |
2 | g.178552464C>G | CA349510764 | TTN,TTN-AS1 | c.82732G>C (p.Gly27578Arg) c.63817G>C (p.Gly21273Arg) c.63616G>C (p.Gly21206Arg) c.63241G>C (p.Gly21081Arg) c.90436G>C (p.Gly30146Arg) c.85513G>C (p.Gly28505Arg) n.447-18836C>G n.2043+10103C>G c.89533G>C (p.Gly29845Arg) c.63427G>C (p.Gly21143Arg) c.63286G>C (p.Gly21096Arg) c.89329G>C (p.Gly29777Arg) c.84727G>C (p.Gly28243Arg) c.84724G>C (p.Gly28242Arg) c.81766G>C (p.Gly27256Arg) c.63382G>C (p.Gly21128Arg) c.84877G>C (p.Gly28293Arg) c.84874G>C (p.Gly28292Arg) c.84307G>C (p.Gly28103Arg) c.81649G>C (p.Gly27217Arg) c.81568G>C (p.Gly27190Arg) c.63331G>C (p.Gly21111Arg) c.53185G>C (p.Gly17729Arg) | |
2 | g.178552464C>T | CA1987791 | TTN,TTN-AS1 | c.82732G>A (p.Gly27578Arg) c.63817G>A (p.Gly21273Arg) c.63616G>A (p.Gly21206Arg) c.63241G>A (p.Gly21081Arg) c.90436G>A (p.Gly30146Arg) c.85513G>A (p.Gly28505Arg) n.447-18836C>T n.2043+10103C>T c.89533G>A (p.Gly29845Arg) c.63427G>A (p.Gly21143Arg) c.63286G>A (p.Gly21096Arg) c.89329G>A (p.Gly29777Arg) c.84727G>A (p.Gly28243Arg) c.84724G>A (p.Gly28242Arg) c.81766G>A (p.Gly27256Arg) c.63382G>A (p.Gly21128Arg) c.84877G>A (p.Gly28293Arg) c.84874G>A (p.Gly28292Arg) c.84307G>A (p.Gly28103Arg) c.81649G>A (p.Gly27217Arg) c.81568G>A (p.Gly27190Arg) c.63331G>A (p.Gly21111Arg) c.53185G>A (p.Gly17729Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.178552465A>C | CA349510769 | TTN,TTN-AS1 | c.82731T>G (p.Ile27577Met) c.63816T>G (p.Ile21272Met) c.63615T>G (p.Ile21205Met) c.63240T>G (p.Ile21080Met) c.90435T>G (p.Ile30145Met) c.85512T>G (p.Ile28504Met) n.447-18835A>C n.2043+10104A>C c.89532T>G (p.Ile29844Met) c.63426T>G (p.Ile21142Met) c.63285T>G (p.Ile21095Met) c.89328T>G (p.Ile29776Met) c.84726T>G (p.Ile28242Met) c.84723T>G (p.Ile28241Met) c.81765T>G (p.Ile27255Met) c.63381T>G (p.Ile21127Met) c.84876T>G (p.Ile28292Met) c.84873T>G (p.Ile28291Met) c.84306T>G (p.Ile28102Met) c.81648T>G (p.Ile27216Met) c.81567T>G (p.Ile27189Met) c.63330T>G (p.Ile21110Met) c.53184T>G (p.Ile17728Met) | |
2 | g.178552465A>G | CA430245278 | TTN,TTN-AS1 | c.82731T>C (p.Ile27577=) c.63816T>C (p.Ile21272=) c.63615T>C (p.Ile21205=) c.63240T>C (p.Ile21080=) c.90435T>C (p.Ile30145=) c.85512T>C (p.Ile28504=) n.447-18835A>G n.2043+10104A>G c.89532T>C (p.Ile29844=) c.63426T>C (p.Ile21142=) c.63285T>C (p.Ile21095=) c.89328T>C (p.Ile29776=) c.84726T>C (p.Ile28242=) c.84723T>C (p.Ile28241=) c.81765T>C (p.Ile27255=) c.63381T>C (p.Ile21127=) c.84876T>C (p.Ile28292=) c.84873T>C (p.Ile28291=) c.84306T>C (p.Ile28102=) c.81648T>C (p.Ile27216=) c.81567T>C (p.Ile27189=) c.63330T>C (p.Ile21110=) c.53184T>C (p.Ile17728=) | |
2 | g.178552465A>T | CA430245280 | TTN,TTN-AS1 | c.82731T>A (p.Ile27577=) c.63816T>A (p.Ile21272=) c.63615T>A (p.Ile21205=) c.63240T>A (p.Ile21080=) c.90435T>A (p.Ile30145=) c.85512T>A (p.Ile28504=) n.447-18835A>T n.2043+10104A>T c.89532T>A (p.Ile29844=) c.63426T>A (p.Ile21142=) c.63285T>A (p.Ile21095=) c.89328T>A (p.Ile29776=) c.84726T>A (p.Ile28242=) c.84723T>A (p.Ile28241=) c.81765T>A (p.Ile27255=) c.63381T>A (p.Ile21127=) c.84876T>A (p.Ile28292=) c.84873T>A (p.Ile28291=) c.84306T>A (p.Ile28102=) c.81648T>A (p.Ile27216=) c.81567T>A (p.Ile27189=) c.63330T>A (p.Ile21110=) c.53184T>A (p.Ile17728=) | |
2 | g.178552466A= | CA1310521995 | TTN,TTN-AS1 | c.82730T= (p.Ile27577=) c.63815T= (p.Ile21272=) c.63614T= (p.Ile21205=) c.63239T= (p.Ile21080=) c.90434T= (p.Ile30145=) c.85511T= (p.Ile28504=) n.447-18834A= n.2043+10105A= c.89531T= (p.Ile29844=) c.63425T= (p.Ile21142=) c.63284T= (p.Ile21095=) c.89327T= (p.Ile29776=) c.84725T= (p.Ile28242=) c.84722T= (p.Ile28241=) c.81764T= (p.Ile27255=) c.63380T= (p.Ile21127=) c.84875T= (p.Ile28292=) c.84872T= (p.Ile28291=) c.84305T= (p.Ile28102=) c.81647T= (p.Ile27216=) c.81566T= (p.Ile27189=) c.63329T= (p.Ile21110=) c.53183T= (p.Ile17728=) | |
2 | g.178552466A>C | CA349510772 | TTN,TTN-AS1 | c.82730T>G (p.Ile27577Ser) c.63815T>G (p.Ile21272Ser) c.63614T>G (p.Ile21205Ser) c.63239T>G (p.Ile21080Ser) c.90434T>G (p.Ile30145Ser) c.85511T>G (p.Ile28504Ser) n.447-18834A>C n.2043+10105A>C c.89531T>G (p.Ile29844Ser) c.63425T>G (p.Ile21142Ser) c.63284T>G (p.Ile21095Ser) c.89327T>G (p.Ile29776Ser) c.84725T>G (p.Ile28242Ser) c.84722T>G (p.Ile28241Ser) c.81764T>G (p.Ile27255Ser) c.63380T>G (p.Ile21127Ser) c.84875T>G (p.Ile28292Ser) c.84872T>G (p.Ile28291Ser) c.84305T>G (p.Ile28102Ser) c.81647T>G (p.Ile27216Ser) c.81566T>G (p.Ile27189Ser) c.63329T>G (p.Ile21110Ser) c.53183T>G (p.Ile17728Ser) | |
2 | g.178552466A>G | CA1987792 | TTN,TTN-AS1 | c.82730T>C (p.Ile27577Thr) c.63815T>C (p.Ile21272Thr) c.63614T>C (p.Ile21205Thr) c.63239T>C (p.Ile21080Thr) c.90434T>C (p.Ile30145Thr) c.85511T>C (p.Ile28504Thr) n.447-18834A>G n.2043+10105A>G c.89531T>C (p.Ile29844Thr) c.63425T>C (p.Ile21142Thr) c.63284T>C (p.Ile21095Thr) c.89327T>C (p.Ile29776Thr) c.84725T>C (p.Ile28242Thr) c.84722T>C (p.Ile28241Thr) c.81764T>C (p.Ile27255Thr) c.63380T>C (p.Ile21127Thr) c.84875T>C (p.Ile28292Thr) c.84872T>C (p.Ile28291Thr) c.84305T>C (p.Ile28102Thr) c.81647T>C (p.Ile27216Thr) c.81566T>C (p.Ile27189Thr) c.63329T>C (p.Ile21110Thr) c.53183T>C (p.Ile17728Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178552466A>T | CA349510777 | TTN,TTN-AS1 | c.82730T>A (p.Ile27577Asn) c.63815T>A (p.Ile21272Asn) c.63614T>A (p.Ile21205Asn) c.63239T>A (p.Ile21080Asn) c.90434T>A (p.Ile30145Asn) c.85511T>A (p.Ile28504Asn) n.447-18834A>T n.2043+10105A>T c.89531T>A (p.Ile29844Asn) c.63425T>A (p.Ile21142Asn) c.63284T>A (p.Ile21095Asn) c.89327T>A (p.Ile29776Asn) c.84725T>A (p.Ile28242Asn) c.84722T>A (p.Ile28241Asn) c.81764T>A (p.Ile27255Asn) c.63380T>A (p.Ile21127Asn) c.84875T>A (p.Ile28292Asn) c.84872T>A (p.Ile28291Asn) c.84305T>A (p.Ile28102Asn) c.81647T>A (p.Ile27216Asn) c.81566T>A (p.Ile27189Asn) c.63329T>A (p.Ile21110Asn) c.53183T>A (p.Ile17728Asn) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.178552467T>A | CA349510785 | TTN,TTN-AS1 | c.82729A>T (p.Ile27577Phe) c.63814A>T (p.Ile21272Phe) c.63613A>T (p.Ile21205Phe) c.63238A>T (p.Ile21080Phe) c.90433A>T (p.Ile30145Phe) c.85510A>T (p.Ile28504Phe) n.447-18833T>A n.2043+10106T>A c.89530A>T (p.Ile29844Phe) c.63424A>T (p.Ile21142Phe) c.63283A>T (p.Ile21095Phe) c.89326A>T (p.Ile29776Phe) c.84724A>T (p.Ile28242Phe) c.84721A>T (p.Ile28241Phe) c.81763A>T (p.Ile27255Phe) c.63379A>T (p.Ile21127Phe) c.84874A>T (p.Ile28292Phe) c.84871A>T (p.Ile28291Phe) c.84304A>T (p.Ile28102Phe) c.81646A>T (p.Ile27216Phe) c.81565A>T (p.Ile27189Phe) c.63328A>T (p.Ile21110Phe) c.53182A>T (p.Ile17728Phe) | |
2 | g.178552467T>C | CA349510788 | TTN,TTN-AS1 | c.82729A>G (p.Ile27577Val) c.63814A>G (p.Ile21272Val) c.63613A>G (p.Ile21205Val) c.63238A>G (p.Ile21080Val) c.90433A>G (p.Ile30145Val) c.85510A>G (p.Ile28504Val) n.447-18833T>C n.2043+10106T>C c.89530A>G (p.Ile29844Val) c.63424A>G (p.Ile21142Val) c.63283A>G (p.Ile21095Val) c.89326A>G (p.Ile29776Val) c.84724A>G (p.Ile28242Val) c.84721A>G (p.Ile28241Val) c.81763A>G (p.Ile27255Val) c.63379A>G (p.Ile21127Val) c.84874A>G (p.Ile28292Val) c.84871A>G (p.Ile28291Val) c.84304A>G (p.Ile28102Val) c.81646A>G (p.Ile27216Val) c.81565A>G (p.Ile27189Val) c.63328A>G (p.Ile21110Val) c.53182A>G (p.Ile17728Val) | |
2 | g.178552467T>G | CA349510790 | TTN,TTN-AS1 | c.82729A>C (p.Ile27577Leu) c.63814A>C (p.Ile21272Leu) c.63613A>C (p.Ile21205Leu) c.63238A>C (p.Ile21080Leu) c.90433A>C (p.Ile30145Leu) c.85510A>C (p.Ile28504Leu) n.447-18833T>G n.2043+10106T>G c.89530A>C (p.Ile29844Leu) c.63424A>C (p.Ile21142Leu) c.63283A>C (p.Ile21095Leu) c.89326A>C (p.Ile29776Leu) c.84724A>C (p.Ile28242Leu) c.84721A>C (p.Ile28241Leu) c.81763A>C (p.Ile27255Leu) c.63379A>C (p.Ile21127Leu) c.84874A>C (p.Ile28292Leu) c.84871A>C (p.Ile28291Leu) c.84304A>C (p.Ile28102Leu) c.81646A>C (p.Ile27216Leu) c.81565A>C (p.Ile27189Leu) c.63328A>C (p.Ile21110Leu) c.53182A>C (p.Ile17728Leu) | |
2 | g.178552468T>A | CA349510794 | TTN,TTN-AS1 | c.82728A>T (p.Arg27576Ser) c.63813A>T (p.Arg21271Ser) c.63612A>T (p.Arg21204Ser) c.63237A>T (p.Arg21079Ser) c.90432A>T (p.Arg30144Ser) c.85509A>T (p.Arg28503Ser) n.447-18832T>A n.2043+10107T>A c.89529A>T (p.Arg29843Ser) c.63423A>T (p.Arg21141Ser) c.63282A>T (p.Arg21094Ser) c.89325A>T (p.Arg29775Ser) c.84723A>T (p.Arg28241Ser) c.84720A>T (p.Arg28240Ser) c.81762A>T (p.Arg27254Ser) c.63378A>T (p.Arg21126Ser) c.84873A>T (p.Arg28291Ser) c.84870A>T (p.Arg28290Ser) c.84303A>T (p.Arg28101Ser) c.81645A>T (p.Arg27215Ser) c.81564A>T (p.Arg27188Ser) c.63327A>T (p.Arg21109Ser) c.53181A>T (p.Arg17727Ser) | |
2 | g.178552468T>C | CA430245287 | TTN,TTN-AS1 | c.82728A>G (p.Arg27576=) c.63813A>G (p.Arg21271=) c.63612A>G (p.Arg21204=) c.63237A>G (p.Arg21079=) c.90432A>G (p.Arg30144=) c.85509A>G (p.Arg28503=) n.447-18832T>C n.2043+10107T>C c.89529A>G (p.Arg29843=) c.63423A>G (p.Arg21141=) c.63282A>G (p.Arg21094=) c.89325A>G (p.Arg29775=) c.84723A>G (p.Arg28241=) c.84720A>G (p.Arg28240=) c.81762A>G (p.Arg27254=) c.63378A>G (p.Arg21126=) c.84873A>G (p.Arg28291=) c.84870A>G (p.Arg28290=) c.84303A>G (p.Arg28101=) c.81645A>G (p.Arg27215=) c.81564A>G (p.Arg27188=) c.63327A>G (p.Arg21109=) c.53181A>G (p.Arg17727=) | |
2 | g.178552468T>G | CA349510798 | TTN,TTN-AS1 | c.82728A>C (p.Arg27576Ser) c.63813A>C (p.Arg21271Ser) c.63612A>C (p.Arg21204Ser) c.63237A>C (p.Arg21079Ser) c.90432A>C (p.Arg30144Ser) c.85509A>C (p.Arg28503Ser) n.447-18832T>G n.2043+10107T>G c.89529A>C (p.Arg29843Ser) c.63423A>C (p.Arg21141Ser) c.63282A>C (p.Arg21094Ser) c.89325A>C (p.Arg29775Ser) c.84723A>C (p.Arg28241Ser) c.84720A>C (p.Arg28240Ser) c.81762A>C (p.Arg27254Ser) c.63378A>C (p.Arg21126Ser) c.84873A>C (p.Arg28291Ser) c.84870A>C (p.Arg28290Ser) c.84303A>C (p.Arg28101Ser) c.81645A>C (p.Arg27215Ser) c.81564A>C (p.Arg27188Ser) c.63327A>C (p.Arg21109Ser) c.53181A>C (p.Arg17727Ser) | |
2 | g.178552469C>A | CA349510802 | TTN,TTN-AS1 | c.82727G>T (p.Arg27576Ile) c.63812G>T (p.Arg21271Ile) c.63611G>T (p.Arg21204Ile) c.63236G>T (p.Arg21079Ile) c.90431G>T (p.Arg30144Ile) c.85508G>T (p.Arg28503Ile) n.447-18831C>A n.2043+10108C>A c.89528G>T (p.Arg29843Ile) c.63422G>T (p.Arg21141Ile) c.63281G>T (p.Arg21094Ile) c.89324G>T (p.Arg29775Ile) c.84722G>T (p.Arg28241Ile) c.84719G>T (p.Arg28240Ile) c.81761G>T (p.Arg27254Ile) c.63377G>T (p.Arg21126Ile) c.84872G>T (p.Arg28291Ile) c.84869G>T (p.Arg28290Ile) c.84302G>T (p.Arg28101Ile) c.81644G>T (p.Arg27215Ile) c.81563G>T (p.Arg27188Ile) c.63326G>T (p.Arg21109Ile) c.53180G>T (p.Arg17727Ile) | |
2 | g.178552469C= | CA1310521999 | TTN,TTN-AS1 | c.82727G= (p.Arg27576=) c.63812G= (p.Arg21271=) c.63611G= (p.Arg21204=) c.63236G= (p.Arg21079=) c.90431G= (p.Arg30144=) c.85508G= (p.Arg28503=) n.447-18831C= n.2043+10108C= c.89528G= (p.Arg29843=) c.63422G= (p.Arg21141=) c.63281G= (p.Arg21094=) c.89324G= (p.Arg29775=) c.84722G= (p.Arg28241=) c.84719G= (p.Arg28240=) c.81761G= (p.Arg27254=) c.63377G= (p.Arg21126=) c.84872G= (p.Arg28291=) c.84869G= (p.Arg28290=) c.84302G= (p.Arg28101=) c.81644G= (p.Arg27215=) c.81563G= (p.Arg27188=) c.63326G= (p.Arg21109=) c.53180G= (p.Arg17727=) | |
2 | g.178552469C>G | CA349510804 | TTN,TTN-AS1 | c.82727G>C (p.Arg27576Thr) c.63812G>C (p.Arg21271Thr) c.63611G>C (p.Arg21204Thr) c.63236G>C (p.Arg21079Thr) c.90431G>C (p.Arg30144Thr) c.85508G>C (p.Arg28503Thr) n.447-18831C>G n.2043+10108C>G c.89528G>C (p.Arg29843Thr) c.63422G>C (p.Arg21141Thr) c.63281G>C (p.Arg21094Thr) c.89324G>C (p.Arg29775Thr) c.84722G>C (p.Arg28241Thr) c.84719G>C (p.Arg28240Thr) c.81761G>C (p.Arg27254Thr) c.63377G>C (p.Arg21126Thr) c.84872G>C (p.Arg28291Thr) c.84869G>C (p.Arg28290Thr) c.84302G>C (p.Arg28101Thr) c.81644G>C (p.Arg27215Thr) c.81563G>C (p.Arg27188Thr) c.63326G>C (p.Arg21109Thr) c.53180G>C (p.Arg17727Thr) | |
2 | g.178552469C>T | CA349510813 | TTN,TTN-AS1 | c.82727G>A (p.Arg27576Lys) c.63812G>A (p.Arg21271Lys) c.63611G>A (p.Arg21204Lys) c.63236G>A (p.Arg21079Lys) c.90431G>A (p.Arg30144Lys) c.85508G>A (p.Arg28503Lys) n.447-18831C>T n.2043+10108C>T c.89528G>A (p.Arg29843Lys) c.63422G>A (p.Arg21141Lys) c.63281G>A (p.Arg21094Lys) c.89324G>A (p.Arg29775Lys) c.84722G>A (p.Arg28241Lys) c.84719G>A (p.Arg28240Lys) c.81761G>A (p.Arg27254Lys) c.63377G>A (p.Arg21126Lys) c.84872G>A (p.Arg28291Lys) c.84869G>A (p.Arg28290Lys) c.84302G>A (p.Arg28101Lys) c.81644G>A (p.Arg27215Lys) c.81563G>A (p.Arg27188Lys) c.63326G>A (p.Arg21109Lys) c.53180G>A (p.Arg17727Lys) | dbSNP |
2 | g.178552470T>A | CA349510854 | TTN,TTN-AS1 | c.82726A>T (p.Arg27576Ter) c.63811A>T (p.Arg21271Ter) c.63610A>T (p.Arg21204Ter) c.63235A>T (p.Arg21079Ter) c.90430A>T (p.Arg30144Ter) c.85507A>T (p.Arg28503Ter) n.447-18830T>A n.2043+10109T>A c.89527A>T (p.Arg29843Ter) c.63421A>T (p.Arg21141Ter) c.63280A>T (p.Arg21094Ter) c.89323A>T (p.Arg29775Ter) c.84721A>T (p.Arg28241Ter) c.84718A>T (p.Arg28240Ter) c.81760A>T (p.Arg27254Ter) c.63376A>T (p.Arg21126Ter) c.84871A>T (p.Arg28291Ter) c.84868A>T (p.Arg28290Ter) c.84301A>T (p.Arg28101Ter) c.81643A>T (p.Arg27215Ter) c.81562A>T (p.Arg27188Ter) c.63325A>T (p.Arg21109Ter) c.53179A>T (p.Arg17727Ter) | |
2 | g.178552470T>C | CA349510830 | TTN,TTN-AS1 | c.82726A>G (p.Arg27576Gly) c.63811A>G (p.Arg21271Gly) c.63610A>G (p.Arg21204Gly) c.63235A>G (p.Arg21079Gly) c.90430A>G (p.Arg30144Gly) c.85507A>G (p.Arg28503Gly) n.447-18830T>C n.2043+10109T>C c.89527A>G (p.Arg29843Gly) c.63421A>G (p.Arg21141Gly) c.63280A>G (p.Arg21094Gly) c.89323A>G (p.Arg29775Gly) c.84721A>G (p.Arg28241Gly) c.84718A>G (p.Arg28240Gly) c.81760A>G (p.Arg27254Gly) c.63376A>G (p.Arg21126Gly) c.84871A>G (p.Arg28291Gly) c.84868A>G (p.Arg28290Gly) c.84301A>G (p.Arg28101Gly) c.81643A>G (p.Arg27215Gly) c.81562A>G (p.Arg27188Gly) c.63325A>G (p.Arg21109Gly) c.53179A>G (p.Arg17727Gly) | |
2 | g.178552470T>G | CA430245293 | TTN,TTN-AS1 | c.82726A>C (p.Arg27576=) c.63811A>C (p.Arg21271=) c.63610A>C (p.Arg21204=) c.63235A>C (p.Arg21079=) c.90430A>C (p.Arg30144=) c.85507A>C (p.Arg28503=) n.447-18830T>G n.2043+10109T>G c.89527A>C (p.Arg29843=) c.63421A>C (p.Arg21141=) c.63280A>C (p.Arg21094=) c.89323A>C (p.Arg29775=) c.84721A>C (p.Arg28241=) c.84718A>C (p.Arg28240=) c.81760A>C (p.Arg27254=) c.63376A>C (p.Arg21126=) c.84871A>C (p.Arg28291=) c.84868A>C (p.Arg28290=) c.84301A>C (p.Arg28101=) c.81643A>C (p.Arg27215=) c.81562A>C (p.Arg27188=) c.63325A>C (p.Arg21109=) c.53179A>C (p.Arg17727=) | |
2 | g.178552471C>A | CA430245296 | TTN,TTN-AS1 | c.82725G>T (p.Val27575=) c.63810G>T (p.Val21270=) c.63609G>T (p.Val21203=) c.63234G>T (p.Val21078=) c.90429G>T (p.Val30143=) c.85506G>T (p.Val28502=) n.447-18829C>A n.2043+10110C>A c.89526G>T (p.Val29842=) c.63420G>T (p.Val21140=) c.63279G>T (p.Val21093=) c.89322G>T (p.Val29774=) c.84720G>T (p.Val28240=) c.84717G>T (p.Val28239=) c.81759G>T (p.Val27253=) c.63375G>T (p.Val21125=) c.84870G>T (p.Val28290=) c.84867G>T (p.Val28289=) c.84300G>T (p.Val28100=) c.81642G>T (p.Val27214=) c.81561G>T (p.Val27187=) c.63324G>T (p.Val21108=) c.53178G>T (p.Val17726=) | gnomAD v4 |