Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.178532012T>ACA349411318TTN,TTN-AS1c.96899A>T (p.Tyr32300Phe)
c.77984A>T (p.Tyr25995Phe)
c.77783A>T (p.Tyr25928Phe)
c.77408A>T (p.Tyr25803Phe)
c.104603A>T (p.Tyr34868Phe)
c.99680A>T (p.Tyr33227Phe)
n.446+8376T>A
n.220-3720T>A
c.103700A>T (p.Tyr34567Phe)
c.77594A>T (p.Tyr25865Phe)
c.77453A>T (p.Tyr25818Phe)
c.103496A>T (p.Tyr34499Phe)
c.98894A>T (p.Tyr32965Phe)
c.98891A>T (p.Tyr32964Phe)
c.95933A>T (p.Tyr31978Phe)
c.77549A>T (p.Tyr25850Phe)
c.99044A>T (p.Tyr33015Phe)
c.99041A>T (p.Tyr33014Phe)
c.98474A>T (p.Tyr32825Phe)
c.95816A>T (p.Tyr31939Phe)
c.95735A>T (p.Tyr31912Phe)
c.77498A>T (p.Tyr25833Phe)
c.67352A>T (p.Tyr22451Phe)
2g.178532012T>CCA349411319TTN,TTN-AS1c.96899A>G (p.Tyr32300Cys)
c.77984A>G (p.Tyr25995Cys)
c.77783A>G (p.Tyr25928Cys)
c.77408A>G (p.Tyr25803Cys)
c.104603A>G (p.Tyr34868Cys)
c.99680A>G (p.Tyr33227Cys)
n.446+8376T>C
n.220-3720T>C
c.103700A>G (p.Tyr34567Cys)
c.77594A>G (p.Tyr25865Cys)
c.77453A>G (p.Tyr25818Cys)
c.103496A>G (p.Tyr34499Cys)
c.98894A>G (p.Tyr32965Cys)
c.98891A>G (p.Tyr32964Cys)
c.95933A>G (p.Tyr31978Cys)
c.77549A>G (p.Tyr25850Cys)
c.99044A>G (p.Tyr33015Cys)
c.99041A>G (p.Tyr33014Cys)
c.98474A>G (p.Tyr32825Cys)
c.95816A>G (p.Tyr31939Cys)
c.95735A>G (p.Tyr31912Cys)
c.77498A>G (p.Tyr25833Cys)
c.67352A>G (p.Tyr22451Cys)
2g.178532012T>GCA349411320TTN,TTN-AS1c.96899A>C (p.Tyr32300Ser)
c.77984A>C (p.Tyr25995Ser)
c.77783A>C (p.Tyr25928Ser)
c.77408A>C (p.Tyr25803Ser)
c.104603A>C (p.Tyr34868Ser)
c.99680A>C (p.Tyr33227Ser)
n.446+8376T>G
n.220-3720T>G
c.103700A>C (p.Tyr34567Ser)
c.77594A>C (p.Tyr25865Ser)
c.77453A>C (p.Tyr25818Ser)
c.103496A>C (p.Tyr34499Ser)
c.98894A>C (p.Tyr32965Ser)
c.98891A>C (p.Tyr32964Ser)
c.95933A>C (p.Tyr31978Ser)
c.77549A>C (p.Tyr25850Ser)
c.99044A>C (p.Tyr33015Ser)
c.99041A>C (p.Tyr33014Ser)
c.98474A>C (p.Tyr32825Ser)
c.95816A>C (p.Tyr31939Ser)
c.95735A>C (p.Tyr31912Ser)
c.77498A>C (p.Tyr25833Ser)
c.67352A>C (p.Tyr22451Ser)
2g.178532013A>CCA349411321TTN,TTN-AS1c.96898T>G (p.Tyr32300Asp)
c.77983T>G (p.Tyr25995Asp)
c.77782T>G (p.Tyr25928Asp)
c.77407T>G (p.Tyr25803Asp)
c.104602T>G (p.Tyr34868Asp)
c.99679T>G (p.Tyr33227Asp)
n.446+8377A>C
n.220-3719A>C
c.103699T>G (p.Tyr34567Asp)
c.77593T>G (p.Tyr25865Asp)
c.77452T>G (p.Tyr25818Asp)
c.103495T>G (p.Tyr34499Asp)
c.98893T>G (p.Tyr32965Asp)
c.98890T>G (p.Tyr32964Asp)
c.95932T>G (p.Tyr31978Asp)
c.77548T>G (p.Tyr25850Asp)
c.99043T>G (p.Tyr33015Asp)
c.99040T>G (p.Tyr33014Asp)
c.98473T>G (p.Tyr32825Asp)
c.95815T>G (p.Tyr31939Asp)
c.95734T>G (p.Tyr31912Asp)
c.77497T>G (p.Tyr25833Asp)
c.67351T>G (p.Tyr22451Asp)
2g.178532013A>GCA349411322TTN,TTN-AS1c.96898T>C (p.Tyr32300His)
c.77983T>C (p.Tyr25995His)
c.77782T>C (p.Tyr25928His)
c.77407T>C (p.Tyr25803His)
c.104602T>C (p.Tyr34868His)
c.99679T>C (p.Tyr33227His)
n.446+8377A>G
n.220-3719A>G
c.103699T>C (p.Tyr34567His)
c.77593T>C (p.Tyr25865His)
c.77452T>C (p.Tyr25818His)
c.103495T>C (p.Tyr34499His)
c.98893T>C (p.Tyr32965His)
c.98890T>C (p.Tyr32964His)
c.95932T>C (p.Tyr31978His)
c.77548T>C (p.Tyr25850His)
c.99043T>C (p.Tyr33015His)
c.99040T>C (p.Tyr33014His)
c.98473T>C (p.Tyr32825His)
c.95815T>C (p.Tyr31939His)
c.95734T>C (p.Tyr31912His)
c.77497T>C (p.Tyr25833His)
c.67351T>C (p.Tyr22451His)
2g.178532013A>TCA349411323TTN,TTN-AS1c.96898T>A (p.Tyr32300Asn)
c.77983T>A (p.Tyr25995Asn)
c.77782T>A (p.Tyr25928Asn)
c.77407T>A (p.Tyr25803Asn)
c.104602T>A (p.Tyr34868Asn)
c.99679T>A (p.Tyr33227Asn)
n.446+8377A>T
n.220-3719A>T
c.103699T>A (p.Tyr34567Asn)
c.77593T>A (p.Tyr25865Asn)
c.77452T>A (p.Tyr25818Asn)
c.103495T>A (p.Tyr34499Asn)
c.98893T>A (p.Tyr32965Asn)
c.98890T>A (p.Tyr32964Asn)
c.95932T>A (p.Tyr31978Asn)
c.77548T>A (p.Tyr25850Asn)
c.99043T>A (p.Tyr33015Asn)
c.99040T>A (p.Tyr33014Asn)
c.98473T>A (p.Tyr32825Asn)
c.95815T>A (p.Tyr31939Asn)
c.95734T>A (p.Tyr31912Asn)
c.77497T>A (p.Tyr25833Asn)
c.67351T>A (p.Tyr22451Asn)
2g.178532014T>ACA349411324TTN,TTN-AS1c.96897A>T (p.Glu32299Asp)
c.77982A>T (p.Glu25994Asp)
c.77781A>T (p.Glu25927Asp)
c.77406A>T (p.Glu25802Asp)
c.104601A>T (p.Glu34867Asp)
c.99678A>T (p.Glu33226Asp)
n.446+8378T>A
n.220-3718T>A
c.103698A>T (p.Glu34566Asp)
c.77592A>T (p.Glu25864Asp)
c.77451A>T (p.Glu25817Asp)
c.103494A>T (p.Glu34498Asp)
c.98892A>T (p.Glu32964Asp)
c.98889A>T (p.Glu32963Asp)
c.95931A>T (p.Glu31977Asp)
c.77547A>T (p.Glu25849Asp)
c.99042A>T (p.Glu33014Asp)
c.99039A>T (p.Glu33013Asp)
c.98472A>T (p.Glu32824Asp)
c.95814A>T (p.Glu31938Asp)
c.95733A>T (p.Glu31911Asp)
c.77496A>T (p.Glu25832Asp)
c.67350A>T (p.Glu22450Asp)
2g.178532014T>CCA430235675TTN,TTN-AS1c.96897A>G (p.Glu32299=)
c.77982A>G (p.Glu25994=)
c.77781A>G (p.Glu25927=)
c.77406A>G (p.Glu25802=)
c.104601A>G (p.Glu34867=)
c.99678A>G (p.Glu33226=)
n.446+8378T>C
n.220-3718T>C
c.103698A>G (p.Glu34566=)
c.77592A>G (p.Glu25864=)
c.77451A>G (p.Glu25817=)
c.103494A>G (p.Glu34498=)
c.98892A>G (p.Glu32964=)
c.98889A>G (p.Glu32963=)
c.95931A>G (p.Glu31977=)
c.77547A>G (p.Glu25849=)
c.99042A>G (p.Glu33014=)
c.99039A>G (p.Glu33013=)
c.98472A>G (p.Glu32824=)
c.95814A>G (p.Glu31938=)
c.95733A>G (p.Glu31911=)
c.77496A>G (p.Glu25832=)
c.67350A>G (p.Glu22450=)
2g.178532014T>GCA349411325TTN,TTN-AS1c.96897A>C (p.Glu32299Asp)
c.77982A>C (p.Glu25994Asp)
c.77781A>C (p.Glu25927Asp)
c.77406A>C (p.Glu25802Asp)
c.104601A>C (p.Glu34867Asp)
c.99678A>C (p.Glu33226Asp)
n.446+8378T>G
n.220-3718T>G
c.103698A>C (p.Glu34566Asp)
c.77592A>C (p.Glu25864Asp)
c.77451A>C (p.Glu25817Asp)
c.103494A>C (p.Glu34498Asp)
c.98892A>C (p.Glu32964Asp)
c.98889A>C (p.Glu32963Asp)
c.95931A>C (p.Glu31977Asp)
c.77547A>C (p.Glu25849Asp)
c.99042A>C (p.Glu33014Asp)
c.99039A>C (p.Glu33013Asp)
c.98472A>C (p.Glu32824Asp)
c.95814A>C (p.Glu31938Asp)
c.95733A>C (p.Glu31911Asp)
c.77496A>C (p.Glu25832Asp)
c.67350A>C (p.Glu22450Asp)
2g.178532015T>ACA349411328TTN,TTN-AS1c.96896A>T (p.Glu32299Val)
c.77981A>T (p.Glu25994Val)
c.77780A>T (p.Glu25927Val)
c.77405A>T (p.Glu25802Val)
c.104600A>T (p.Glu34867Val)
c.99677A>T (p.Glu33226Val)
n.446+8379T>A
n.220-3717T>A
c.103697A>T (p.Glu34566Val)
c.77591A>T (p.Glu25864Val)
c.77450A>T (p.Glu25817Val)
c.103493A>T (p.Glu34498Val)
c.98891A>T (p.Glu32964Val)
c.98888A>T (p.Glu32963Val)
c.95930A>T (p.Glu31977Val)
c.77546A>T (p.Glu25849Val)
c.99041A>T (p.Glu33014Val)
c.99038A>T (p.Glu33013Val)
c.98471A>T (p.Glu32824Val)
c.95813A>T (p.Glu31938Val)
c.95732A>T (p.Glu31911Val)
c.77495A>T (p.Glu25832Val)
c.67349A>T (p.Glu22450Val)
 gnomAD v4
2g.178532015T>CCA349411327TTN,TTN-AS1c.96896A>G (p.Glu32299Gly)
c.77981A>G (p.Glu25994Gly)
c.77780A>G (p.Glu25927Gly)
c.77405A>G (p.Glu25802Gly)
c.104600A>G (p.Glu34867Gly)
c.99677A>G (p.Glu33226Gly)
n.446+8379T>C
n.220-3717T>C
c.103697A>G (p.Glu34566Gly)
c.77591A>G (p.Glu25864Gly)
c.77450A>G (p.Glu25817Gly)
c.103493A>G (p.Glu34498Gly)
c.98891A>G (p.Glu32964Gly)
c.98888A>G (p.Glu32963Gly)
c.95930A>G (p.Glu31977Gly)
c.77546A>G (p.Glu25849Gly)
c.99041A>G (p.Glu33014Gly)
c.99038A>G (p.Glu33013Gly)
c.98471A>G (p.Glu32824Gly)
c.95813A>G (p.Glu31938Gly)
c.95732A>G (p.Glu31911Gly)
c.77495A>G (p.Glu25832Gly)
c.67349A>G (p.Glu22450Gly)
2g.178532015T>GCA349411326TTN,TTN-AS1c.96896A>C (p.Glu32299Ala)
c.77981A>C (p.Glu25994Ala)
c.77780A>C (p.Glu25927Ala)
c.77405A>C (p.Glu25802Ala)
c.104600A>C (p.Glu34867Ala)
c.99677A>C (p.Glu33226Ala)
n.446+8379T>G
n.220-3717T>G
c.103697A>C (p.Glu34566Ala)
c.77591A>C (p.Glu25864Ala)
c.77450A>C (p.Glu25817Ala)
c.103493A>C (p.Glu34498Ala)
c.98891A>C (p.Glu32964Ala)
c.98888A>C (p.Glu32963Ala)
c.95930A>C (p.Glu31977Ala)
c.77546A>C (p.Glu25849Ala)
c.99041A>C (p.Glu33014Ala)
c.99038A>C (p.Glu33013Ala)
c.98471A>C (p.Glu32824Ala)
c.95813A>C (p.Glu31938Ala)
c.95732A>C (p.Glu31911Ala)
c.77495A>C (p.Glu25832Ala)
c.67349A>C (p.Glu22450Ala)
2g.178532016C>ACA349411329TTN,TTN-AS1c.96895G>T (p.Glu32299Ter)
c.77980G>T (p.Glu25994Ter)
c.77779G>T (p.Glu25927Ter)
c.77404G>T (p.Glu25802Ter)
c.104599G>T (p.Glu34867Ter)
c.99676G>T (p.Glu33226Ter)
n.446+8380C>A
n.220-3716C>A
c.103696G>T (p.Glu34566Ter)
c.77590G>T (p.Glu25864Ter)
c.77449G>T (p.Glu25817Ter)
c.103492G>T (p.Glu34498Ter)
c.98890G>T (p.Glu32964Ter)
c.98887G>T (p.Glu32963Ter)
c.95929G>T (p.Glu31977Ter)
c.77545G>T (p.Glu25849Ter)
c.99040G>T (p.Glu33014Ter)
c.99037G>T (p.Glu33013Ter)
c.98470G>T (p.Glu32824Ter)
c.95812G>T (p.Glu31938Ter)
c.95731G>T (p.Glu31911Ter)
c.77494G>T (p.Glu25832Ter)
c.67348G>T (p.Glu22450Ter)
2g.178532016C=CA1310518029TTN,TTN-AS1c.96895G= (p.Glu32299=)
c.77980G= (p.Glu25994=)
c.77779G= (p.Glu25927=)
c.77404G= (p.Glu25802=)
c.104599G= (p.Glu34867=)
c.99676G= (p.Glu33226=)
n.446+8380C=
n.220-3716C=
c.103696G= (p.Glu34566=)
c.77590G= (p.Glu25864=)
c.77449G= (p.Glu25817=)
c.103492G= (p.Glu34498=)
c.98890G= (p.Glu32964=)
c.98887G= (p.Glu32963=)
c.95929G= (p.Glu31977=)
c.77545G= (p.Glu25849=)
c.99040G= (p.Glu33014=)
c.99037G= (p.Glu33013=)
c.98470G= (p.Glu32824=)
c.95812G= (p.Glu31938=)
c.95731G= (p.Glu31911=)
c.77494G= (p.Glu25832=)
c.67348G= (p.Glu22450=)
2g.178532016C>GCA349411330TTN,TTN-AS1c.96895G>C (p.Glu32299Gln)
c.77980G>C (p.Glu25994Gln)
c.77779G>C (p.Glu25927Gln)
c.77404G>C (p.Glu25802Gln)
c.104599G>C (p.Glu34867Gln)
c.99676G>C (p.Glu33226Gln)
n.446+8380C>G
n.220-3716C>G
c.103696G>C (p.Glu34566Gln)
c.77590G>C (p.Glu25864Gln)
c.77449G>C (p.Glu25817Gln)
c.103492G>C (p.Glu34498Gln)
c.98890G>C (p.Glu32964Gln)
c.98887G>C (p.Glu32963Gln)
c.95929G>C (p.Glu31977Gln)
c.77545G>C (p.Glu25849Gln)
c.99040G>C (p.Glu33014Gln)
c.99037G>C (p.Glu33013Gln)
c.98470G>C (p.Glu32824Gln)
c.95812G>C (p.Glu31938Gln)
c.95731G>C (p.Glu31911Gln)
c.77494G>C (p.Glu25832Gln)
c.67348G>C (p.Glu22450Gln)
2g.178532016C>TCA349411331TTN,TTN-AS1c.96895G>A (p.Glu32299Lys)
c.77980G>A (p.Glu25994Lys)
c.77779G>A (p.Glu25927Lys)
c.77404G>A (p.Glu25802Lys)
c.104599G>A (p.Glu34867Lys)
c.99676G>A (p.Glu33226Lys)
n.446+8380C>T
n.220-3716C>T
c.103696G>A (p.Glu34566Lys)
c.77590G>A (p.Glu25864Lys)
c.77449G>A (p.Glu25817Lys)
c.103492G>A (p.Glu34498Lys)
c.98890G>A (p.Glu32964Lys)
c.98887G>A (p.Glu32963Lys)
c.95929G>A (p.Glu31977Lys)
c.77545G>A (p.Glu25849Lys)
c.99040G>A (p.Glu33014Lys)
c.99037G>A (p.Glu33013Lys)
c.98470G>A (p.Glu32824Lys)
c.95812G>A (p.Glu31938Lys)
c.95731G>A (p.Glu31911Lys)
c.77494G>A (p.Glu25832Lys)
c.67348G>A (p.Glu22450Lys)
 ClinVar dbSNP
2g.178532017C>ACA349411332TTN,TTN-AS1c.96894G>T (p.Glu32298Asp)
c.77979G>T (p.Glu25993Asp)
c.77778G>T (p.Glu25926Asp)
c.77403G>T (p.Glu25801Asp)
c.104598G>T (p.Glu34866Asp)
c.99675G>T (p.Glu33225Asp)
n.446+8381C>A
n.220-3715C>A
c.103695G>T (p.Glu34565Asp)
c.77589G>T (p.Glu25863Asp)
c.77448G>T (p.Glu25816Asp)
c.103491G>T (p.Glu34497Asp)
c.98889G>T (p.Glu32963Asp)
c.98886G>T (p.Glu32962Asp)
c.95928G>T (p.Glu31976Asp)
c.77544G>T (p.Glu25848Asp)
c.99039G>T (p.Glu33013Asp)
c.99036G>T (p.Glu33012Asp)
c.98469G>T (p.Glu32823Asp)
c.95811G>T (p.Glu31937Asp)
c.95730G>T (p.Glu31910Asp)
c.77493G>T (p.Glu25831Asp)
c.67347G>T (p.Glu22449Asp)
2g.178532017C>GCA349411333TTN,TTN-AS1c.96894G>C (p.Glu32298Asp)
c.77979G>C (p.Glu25993Asp)
c.77778G>C (p.Glu25926Asp)
c.77403G>C (p.Glu25801Asp)
c.104598G>C (p.Glu34866Asp)
c.99675G>C (p.Glu33225Asp)
n.446+8381C>G
n.220-3715C>G
c.103695G>C (p.Glu34565Asp)
c.77589G>C (p.Glu25863Asp)
c.77448G>C (p.Glu25816Asp)
c.103491G>C (p.Glu34497Asp)
c.98889G>C (p.Glu32963Asp)
c.98886G>C (p.Glu32962Asp)
c.95928G>C (p.Glu31976Asp)
c.77544G>C (p.Glu25848Asp)
c.99039G>C (p.Glu33013Asp)
c.99036G>C (p.Glu33012Asp)
c.98469G>C (p.Glu32823Asp)
c.95811G>C (p.Glu31937Asp)
c.95730G>C (p.Glu31910Asp)
c.77493G>C (p.Glu25831Asp)
c.67347G>C (p.Glu22449Asp)
2g.178532017C>TCA430235691TTN,TTN-AS1c.96894G>A (p.Glu32298=)
c.77979G>A (p.Glu25993=)
c.77778G>A (p.Glu25926=)
c.77403G>A (p.Glu25801=)
c.104598G>A (p.Glu34866=)
c.99675G>A (p.Glu33225=)
n.446+8381C>T
n.220-3715C>T
c.103695G>A (p.Glu34565=)
c.77589G>A (p.Glu25863=)
c.77448G>A (p.Glu25816=)
c.103491G>A (p.Glu34497=)
c.98889G>A (p.Glu32963=)
c.98886G>A (p.Glu32962=)
c.95928G>A (p.Glu31976=)
c.77544G>A (p.Glu25848=)
c.99039G>A (p.Glu33013=)
c.99036G>A (p.Glu33012=)
c.98469G>A (p.Glu32823=)
c.95811G>A (p.Glu31937=)
c.95730G>A (p.Glu31910=)
c.77493G>A (p.Glu25831=)
c.67347G>A (p.Glu22449=)
 gnomAD v4
2g.178532018T>ACA349411334TTN,TTN-AS1c.96893A>T (p.Glu32298Val)
c.77978A>T (p.Glu25993Val)
c.77777A>T (p.Glu25926Val)
c.77402A>T (p.Glu25801Val)
c.104597A>T (p.Glu34866Val)
c.99674A>T (p.Glu33225Val)
n.446+8382T>A
n.220-3714T>A
c.103694A>T (p.Glu34565Val)
c.77588A>T (p.Glu25863Val)
c.77447A>T (p.Glu25816Val)
c.103490A>T (p.Glu34497Val)
c.98888A>T (p.Glu32963Val)
c.98885A>T (p.Glu32962Val)
c.95927A>T (p.Glu31976Val)
c.77543A>T (p.Glu25848Val)
c.99038A>T (p.Glu33013Val)
c.99035A>T (p.Glu33012Val)
c.98468A>T (p.Glu32823Val)
c.95810A>T (p.Glu31937Val)
c.95729A>T (p.Glu31910Val)
c.77492A>T (p.Glu25831Val)
c.67346A>T (p.Glu22449Val)
2g.178532018T>CCA349411335TTN,TTN-AS1c.96893A>G (p.Glu32298Gly)
c.77978A>G (p.Glu25993Gly)
c.77777A>G (p.Glu25926Gly)
c.77402A>G (p.Glu25801Gly)
c.104597A>G (p.Glu34866Gly)
c.99674A>G (p.Glu33225Gly)
n.446+8382T>C
n.220-3714T>C
c.103694A>G (p.Glu34565Gly)
c.77588A>G (p.Glu25863Gly)
c.77447A>G (p.Glu25816Gly)
c.103490A>G (p.Glu34497Gly)
c.98888A>G (p.Glu32963Gly)
c.98885A>G (p.Glu32962Gly)
c.95927A>G (p.Glu31976Gly)
c.77543A>G (p.Glu25848Gly)
c.99038A>G (p.Glu33013Gly)
c.99035A>G (p.Glu33012Gly)
c.98468A>G (p.Glu32823Gly)
c.95810A>G (p.Glu31937Gly)
c.95729A>G (p.Glu31910Gly)
c.77492A>G (p.Glu25831Gly)
c.67346A>G (p.Glu22449Gly)
2g.178532018T>GCA349411336TTN,TTN-AS1c.96893A>C (p.Glu32298Ala)
c.77978A>C (p.Glu25993Ala)
c.77777A>C (p.Glu25926Ala)
c.77402A>C (p.Glu25801Ala)
c.104597A>C (p.Glu34866Ala)
c.99674A>C (p.Glu33225Ala)
n.446+8382T>G
n.220-3714T>G
c.103694A>C (p.Glu34565Ala)
c.77588A>C (p.Glu25863Ala)
c.77447A>C (p.Glu25816Ala)
c.103490A>C (p.Glu34497Ala)
c.98888A>C (p.Glu32963Ala)
c.98885A>C (p.Glu32962Ala)
c.95927A>C (p.Glu31976Ala)
c.77543A>C (p.Glu25848Ala)
c.99038A>C (p.Glu33013Ala)
c.99035A>C (p.Glu33012Ala)
c.98468A>C (p.Glu32823Ala)
c.95810A>C (p.Glu31937Ala)
c.95729A>C (p.Glu31910Ala)
c.77492A>C (p.Glu25831Ala)
c.67346A>C (p.Glu22449Ala)
2g.178532019C>ACA349411337TTN,TTN-AS1c.96892G>T (p.Glu32298Ter)
c.77977G>T (p.Glu25993Ter)
c.77776G>T (p.Glu25926Ter)
c.77401G>T (p.Glu25801Ter)
c.104596G>T (p.Glu34866Ter)
c.99673G>T (p.Glu33225Ter)
n.446+8383C>A
n.220-3713C>A
c.103693G>T (p.Glu34565Ter)
c.77587G>T (p.Glu25863Ter)
c.77446G>T (p.Glu25816Ter)
c.103489G>T (p.Glu34497Ter)
c.98887G>T (p.Glu32963Ter)
c.98884G>T (p.Glu32962Ter)
c.95926G>T (p.Glu31976Ter)
c.77542G>T (p.Glu25848Ter)
c.99037G>T (p.Glu33013Ter)
c.99034G>T (p.Glu33012Ter)
c.98467G>T (p.Glu32823Ter)
c.95809G>T (p.Glu31937Ter)
c.95728G>T (p.Glu31910Ter)
c.77491G>T (p.Glu25831Ter)
c.67345G>T (p.Glu22449Ter)
2g.178532019C>GCA349411338TTN,TTN-AS1c.96892G>C (p.Glu32298Gln)
c.77977G>C (p.Glu25993Gln)
c.77776G>C (p.Glu25926Gln)
c.77401G>C (p.Glu25801Gln)
c.104596G>C (p.Glu34866Gln)
c.99673G>C (p.Glu33225Gln)
n.446+8383C>G
n.220-3713C>G
c.103693G>C (p.Glu34565Gln)
c.77587G>C (p.Glu25863Gln)
c.77446G>C (p.Glu25816Gln)
c.103489G>C (p.Glu34497Gln)
c.98887G>C (p.Glu32963Gln)
c.98884G>C (p.Glu32962Gln)
c.95926G>C (p.Glu31976Gln)
c.77542G>C (p.Glu25848Gln)
c.99037G>C (p.Glu33013Gln)
c.99034G>C (p.Glu33012Gln)
c.98467G>C (p.Glu32823Gln)
c.95809G>C (p.Glu31937Gln)
c.95728G>C (p.Glu31910Gln)
c.77491G>C (p.Glu25831Gln)
c.67345G>C (p.Glu22449Gln)
2g.178532019C>TCA349411339TTN,TTN-AS1c.96892G>A (p.Glu32298Lys)
c.77977G>A (p.Glu25993Lys)
c.77776G>A (p.Glu25926Lys)
c.77401G>A (p.Glu25801Lys)
c.104596G>A (p.Glu34866Lys)
c.99673G>A (p.Glu33225Lys)
n.446+8383C>T
n.220-3713C>T
c.103693G>A (p.Glu34565Lys)
c.77587G>A (p.Glu25863Lys)
c.77446G>A (p.Glu25816Lys)
c.103489G>A (p.Glu34497Lys)
c.98887G>A (p.Glu32963Lys)
c.98884G>A (p.Glu32962Lys)
c.95926G>A (p.Glu31976Lys)
c.77542G>A (p.Glu25848Lys)
c.99037G>A (p.Glu33013Lys)
c.99034G>A (p.Glu33012Lys)
c.98467G>A (p.Glu32823Lys)
c.95809G>A (p.Glu31937Lys)
c.95728G>A (p.Glu31910Lys)
c.77491G>A (p.Glu25831Lys)
c.67345G>A (p.Glu22449Lys)
 gnomAD v4
2g.178532020A=CA1310518030TTN,TTN-AS1c.96891T= (p.Ala32297=)
c.77976T= (p.Ala25992=)
c.77775T= (p.Ala25925=)
c.77400T= (p.Ala25800=)
c.104595T= (p.Ala34865=)
c.99672T= (p.Ala33224=)
n.446+8384A=
n.220-3712A=
c.103692T= (p.Ala34564=)
c.77586T= (p.Ala25862=)
c.77445T= (p.Ala25815=)
c.103488T= (p.Ala34496=)
c.98886T= (p.Ala32962=)
c.98883T= (p.Ala32961=)
c.95925T= (p.Ala31975=)
c.77541T= (p.Ala25847=)
c.99036T= (p.Ala33012=)
c.99033T= (p.Ala33011=)
c.98466T= (p.Ala32822=)
c.95808T= (p.Ala31936=)
c.95727T= (p.Ala31909=)
c.77490T= (p.Ala25830=)
c.67344T= (p.Ala22448=)
2g.178532020A>CCA430235703TTN,TTN-AS1c.96891T>G (p.Ala32297=)
c.77976T>G (p.Ala25992=)
c.77775T>G (p.Ala25925=)
c.77400T>G (p.Ala25800=)
c.104595T>G (p.Ala34865=)
c.99672T>G (p.Ala33224=)
n.446+8384A>C
n.220-3712A>C
c.103692T>G (p.Ala34564=)
c.77586T>G (p.Ala25862=)
c.77445T>G (p.Ala25815=)
c.103488T>G (p.Ala34496=)
c.98886T>G (p.Ala32962=)
c.98883T>G (p.Ala32961=)
c.95925T>G (p.Ala31975=)
c.77541T>G (p.Ala25847=)
c.99036T>G (p.Ala33012=)
c.99033T>G (p.Ala33011=)
c.98466T>G (p.Ala32822=)
c.95808T>G (p.Ala31936=)
c.95727T>G (p.Ala31909=)
c.77490T>G (p.Ala25830=)
c.67344T>G (p.Ala22448=)
2g.178532020A>GCA1985392TTN,TTN-AS1c.96891T>C (p.Ala32297=)
c.77976T>C (p.Ala25992=)
c.77775T>C (p.Ala25925=)
c.77400T>C (p.Ala25800=)
c.104595T>C (p.Ala34865=)
c.99672T>C (p.Ala33224=)
n.446+8384A>G
n.220-3712A>G
c.103692T>C (p.Ala34564=)
c.77586T>C (p.Ala25862=)
c.77445T>C (p.Ala25815=)
c.103488T>C (p.Ala34496=)
c.98886T>C (p.Ala32962=)
c.98883T>C (p.Ala32961=)
c.95925T>C (p.Ala31975=)
c.77541T>C (p.Ala25847=)
c.99036T>C (p.Ala33012=)
c.99033T>C (p.Ala33011=)
c.98466T>C (p.Ala32822=)
c.95808T>C (p.Ala31936=)
c.95727T>C (p.Ala31909=)
c.77490T>C (p.Ala25830=)
c.67344T>C (p.Ala22448=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.178532020A>TCA430235704TTN,TTN-AS1c.96891T>A (p.Ala32297=)
c.77976T>A (p.Ala25992=)
c.77775T>A (p.Ala25925=)
c.77400T>A (p.Ala25800=)
c.104595T>A (p.Ala34865=)
c.99672T>A (p.Ala33224=)
n.446+8384A>T
n.220-3712A>T
c.103692T>A (p.Ala34564=)
c.77586T>A (p.Ala25862=)
c.77445T>A (p.Ala25815=)
c.103488T>A (p.Ala34496=)
c.98886T>A (p.Ala32962=)
c.98883T>A (p.Ala32961=)
c.95925T>A (p.Ala31975=)
c.77541T>A (p.Ala25847=)
c.99036T>A (p.Ala33012=)
c.99033T>A (p.Ala33011=)
c.98466T>A (p.Ala32822=)
c.95808T>A (p.Ala31936=)
c.95727T>A (p.Ala31909=)
c.77490T>A (p.Ala25830=)
c.67344T>A (p.Ala22448=)
2g.178532021G>ACA349411342TTN,TTN-AS1c.96890C>T (p.Ala32297Val)
c.77975C>T (p.Ala25992Val)
c.77774C>T (p.Ala25925Val)
c.77399C>T (p.Ala25800Val)
c.104594C>T (p.Ala34865Val)
c.99671C>T (p.Ala33224Val)
n.446+8385G>A
n.220-3711G>A
c.103691C>T (p.Ala34564Val)
c.77585C>T (p.Ala25862Val)
c.77444C>T (p.Ala25815Val)
c.103487C>T (p.Ala34496Val)
c.98885C>T (p.Ala32962Val)
c.98882C>T (p.Ala32961Val)
c.95924C>T (p.Ala31975Val)
c.77540C>T (p.Ala25847Val)
c.99035C>T (p.Ala33012Val)
c.99032C>T (p.Ala33011Val)
c.98465C>T (p.Ala32822Val)
c.95807C>T (p.Ala31936Val)
c.95726C>T (p.Ala31909Val)
c.77489C>T (p.Ala25830Val)
c.67343C>T (p.Ala22448Val)
2g.178532021G>CCA349411341TTN,TTN-AS1c.96890C>G (p.Ala32297Gly)
c.77975C>G (p.Ala25992Gly)
c.77774C>G (p.Ala25925Gly)
c.77399C>G (p.Ala25800Gly)
c.104594C>G (p.Ala34865Gly)
c.99671C>G (p.Ala33224Gly)
n.446+8385G>C
n.220-3711G>C
c.103691C>G (p.Ala34564Gly)
c.77585C>G (p.Ala25862Gly)
c.77444C>G (p.Ala25815Gly)
c.103487C>G (p.Ala34496Gly)
c.98885C>G (p.Ala32962Gly)
c.98882C>G (p.Ala32961Gly)
c.95924C>G (p.Ala31975Gly)
c.77540C>G (p.Ala25847Gly)
c.99035C>G (p.Ala33012Gly)
c.99032C>G (p.Ala33011Gly)
c.98465C>G (p.Ala32822Gly)
c.95807C>G (p.Ala31936Gly)
c.95726C>G (p.Ala31909Gly)
c.77489C>G (p.Ala25830Gly)
c.67343C>G (p.Ala22448Gly)
2g.178532021G>TCA349411340TTN,TTN-AS1c.96890C>A (p.Ala32297Asp)
c.77975C>A (p.Ala25992Asp)
c.77774C>A (p.Ala25925Asp)
c.77399C>A (p.Ala25800Asp)
c.104594C>A (p.Ala34865Asp)
c.99671C>A (p.Ala33224Asp)
n.446+8385G>T
n.220-3711G>T
c.103691C>A (p.Ala34564Asp)
c.77585C>A (p.Ala25862Asp)
c.77444C>A (p.Ala25815Asp)
c.103487C>A (p.Ala34496Asp)
c.98885C>A (p.Ala32962Asp)
c.98882C>A (p.Ala32961Asp)
c.95924C>A (p.Ala31975Asp)
c.77540C>A (p.Ala25847Asp)
c.99035C>A (p.Ala33012Asp)
c.99032C>A (p.Ala33011Asp)
c.98465C>A (p.Ala32822Asp)
c.95807C>A (p.Ala31936Asp)
c.95726C>A (p.Ala31909Asp)
c.77489C>A (p.Ala25830Asp)
c.67343C>A (p.Ala22448Asp)
2g.178532022C>ACA349411343TTN,TTN-AS1c.96889G>T (p.Ala32297Ser)
c.77974G>T (p.Ala25992Ser)
c.77773G>T (p.Ala25925Ser)
c.77398G>T (p.Ala25800Ser)
c.104593G>T (p.Ala34865Ser)
c.99670G>T (p.Ala33224Ser)
n.446+8386C>A
n.220-3710C>A
c.103690G>T (p.Ala34564Ser)
c.77584G>T (p.Ala25862Ser)
c.77443G>T (p.Ala25815Ser)
c.103486G>T (p.Ala34496Ser)
c.98884G>T (p.Ala32962Ser)
c.98881G>T (p.Ala32961Ser)
c.95923G>T (p.Ala31975Ser)
c.77539G>T (p.Ala25847Ser)
c.99034G>T (p.Ala33012Ser)
c.99031G>T (p.Ala33011Ser)
c.98464G>T (p.Ala32822Ser)
c.95806G>T (p.Ala31936Ser)
c.95725G>T (p.Ala31909Ser)
c.77488G>T (p.Ala25830Ser)
c.67342G>T (p.Ala22448Ser)
2g.178532022C>GCA349411344TTN,TTN-AS1c.96889G>C (p.Ala32297Pro)
c.77974G>C (p.Ala25992Pro)
c.77773G>C (p.Ala25925Pro)
c.77398G>C (p.Ala25800Pro)
c.104593G>C (p.Ala34865Pro)
c.99670G>C (p.Ala33224Pro)
n.446+8386C>G
n.220-3710C>G
c.103690G>C (p.Ala34564Pro)
c.77584G>C (p.Ala25862Pro)
c.77443G>C (p.Ala25815Pro)
c.103486G>C (p.Ala34496Pro)
c.98884G>C (p.Ala32962Pro)
c.98881G>C (p.Ala32961Pro)
c.95923G>C (p.Ala31975Pro)
c.77539G>C (p.Ala25847Pro)
c.99034G>C (p.Ala33012Pro)
c.99031G>C (p.Ala33011Pro)
c.98464G>C (p.Ala32822Pro)
c.95806G>C (p.Ala31936Pro)
c.95725G>C (p.Ala31909Pro)
c.77488G>C (p.Ala25830Pro)
c.67342G>C (p.Ala22448Pro)
2g.178532022C>TCA349411345TTN,TTN-AS1c.96889G>A (p.Ala32297Thr)
c.77974G>A (p.Ala25992Thr)
c.77773G>A (p.Ala25925Thr)
c.77398G>A (p.Ala25800Thr)
c.104593G>A (p.Ala34865Thr)
c.99670G>A (p.Ala33224Thr)
n.446+8386C>T
n.220-3710C>T
c.103690G>A (p.Ala34564Thr)
c.77584G>A (p.Ala25862Thr)
c.77443G>A (p.Ala25815Thr)
c.103486G>A (p.Ala34496Thr)
c.98884G>A (p.Ala32962Thr)
c.98881G>A (p.Ala32961Thr)
c.95923G>A (p.Ala31975Thr)
c.77539G>A (p.Ala25847Thr)
c.99034G>A (p.Ala33012Thr)
c.99031G>A (p.Ala33011Thr)
c.98464G>A (p.Ala32822Thr)
c.95806G>A (p.Ala31936Thr)
c.95725G>A (p.Ala31909Thr)
c.77488G>A (p.Ala25830Thr)
c.67342G>A (p.Ala22448Thr)
2g.178532023C>ACA1985393TTN,TTN-AS1c.96888G>T (p.Pro32296=)
c.77973G>T (p.Pro25991=)
c.77772G>T (p.Pro25924=)
c.77397G>T (p.Pro25799=)
c.104592G>T (p.Pro34864=)
c.99669G>T (p.Pro33223=)
n.446+8387C>A
n.220-3709C>A
c.103689G>T (p.Pro34563=)
c.77583G>T (p.Pro25861=)
c.77442G>T (p.Pro25814=)
c.103485G>T (p.Pro34495=)
c.98883G>T (p.Pro32961=)
c.98880G>T (p.Pro32960=)
c.95922G>T (p.Pro31974=)
c.77538G>T (p.Pro25846=)
c.99033G>T (p.Pro33011=)
c.99030G>T (p.Pro33010=)
c.98463G>T (p.Pro32821=)
c.95805G>T (p.Pro31935=)
c.95724G>T (p.Pro31908=)
c.77487G>T (p.Pro25829=)
c.67341G>T (p.Pro22447=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178532023C=CA1310518031TTN,TTN-AS1c.96888G= (p.Pro32296=)
c.77973G= (p.Pro25991=)
c.77772G= (p.Pro25924=)
c.77397G= (p.Pro25799=)
c.104592G= (p.Pro34864=)
c.99669G= (p.Pro33223=)
n.446+8387C=
n.220-3709C=
c.103689G= (p.Pro34563=)
c.77583G= (p.Pro25861=)
c.77442G= (p.Pro25814=)
c.103485G= (p.Pro34495=)
c.98883G= (p.Pro32961=)
c.98880G= (p.Pro32960=)
c.95922G= (p.Pro31974=)
c.77538G= (p.Pro25846=)
c.99033G= (p.Pro33011=)
c.99030G= (p.Pro33010=)
c.98463G= (p.Pro32821=)
c.95805G= (p.Pro31935=)
c.95724G= (p.Pro31908=)
c.77487G= (p.Pro25829=)
c.67341G= (p.Pro22447=)
2g.178532023C>GCA430235706TTN,TTN-AS1c.96888G>C (p.Pro32296=)
c.77973G>C (p.Pro25991=)
c.77772G>C (p.Pro25924=)
c.77397G>C (p.Pro25799=)
c.104592G>C (p.Pro34864=)
c.99669G>C (p.Pro33223=)
n.446+8387C>G
n.220-3709C>G
c.103689G>C (p.Pro34563=)
c.77583G>C (p.Pro25861=)
c.77442G>C (p.Pro25814=)
c.103485G>C (p.Pro34495=)
c.98883G>C (p.Pro32961=)
c.98880G>C (p.Pro32960=)
c.95922G>C (p.Pro31974=)
c.77538G>C (p.Pro25846=)
c.99033G>C (p.Pro33011=)
c.99030G>C (p.Pro33010=)
c.98463G>C (p.Pro32821=)
c.95805G>C (p.Pro31935=)
c.95724G>C (p.Pro31908=)
c.77487G>C (p.Pro25829=)
c.67341G>C (p.Pro22447=)
 gnomAD v4
2g.178532023C>TCA295722TTN,TTN-AS1c.96888G>A (p.Pro32296=)
c.77973G>A (p.Pro25991=)
c.77772G>A (p.Pro25924=)
c.77397G>A (p.Pro25799=)
c.104592G>A (p.Pro34864=)
c.99669G>A (p.Pro33223=)
n.446+8387C>T
n.220-3709C>T
c.103689G>A (p.Pro34563=)
c.77583G>A (p.Pro25861=)
c.77442G>A (p.Pro25814=)
c.103485G>A (p.Pro34495=)
c.98883G>A (p.Pro32961=)
c.98880G>A (p.Pro32960=)
c.95922G>A (p.Pro31974=)
c.77538G>A (p.Pro25846=)
c.99033G>A (p.Pro33011=)
c.99030G>A (p.Pro33010=)
c.98463G>A (p.Pro32821=)
c.95805G>A (p.Pro31935=)
c.95724G>A (p.Pro31908=)
c.77487G>A (p.Pro25829=)
c.67341G>A (p.Pro22447=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
2g.178532024G>ACA1985394TTN,TTN-AS1c.96887C>T (p.Pro32296Leu)
c.77972C>T (p.Pro25991Leu)
c.77771C>T (p.Pro25924Leu)
c.77396C>T (p.Pro25799Leu)
c.104591C>T (p.Pro34864Leu)
c.99668C>T (p.Pro33223Leu)
n.446+8388G>A
n.220-3708G>A
c.103688C>T (p.Pro34563Leu)
c.77582C>T (p.Pro25861Leu)
c.77441C>T (p.Pro25814Leu)
c.103484C>T (p.Pro34495Leu)
c.98882C>T (p.Pro32961Leu)
c.98879C>T (p.Pro32960Leu)
c.95921C>T (p.Pro31974Leu)
c.77537C>T (p.Pro25846Leu)
c.99032C>T (p.Pro33011Leu)
c.99029C>T (p.Pro33010Leu)
c.98462C>T (p.Pro32821Leu)
c.95804C>T (p.Pro31935Leu)
c.95723C>T (p.Pro31908Leu)
c.77486C>T (p.Pro25829Leu)
c.67340C>T (p.Pro22447Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178532024G>CCA349411346TTN,TTN-AS1c.96887C>G (p.Pro32296Arg)
c.77972C>G (p.Pro25991Arg)
c.77771C>G (p.Pro25924Arg)
c.77396C>G (p.Pro25799Arg)
c.104591C>G (p.Pro34864Arg)
c.99668C>G (p.Pro33223Arg)
n.446+8388G>C
n.220-3708G>C
c.103688C>G (p.Pro34563Arg)
c.77582C>G (p.Pro25861Arg)
c.77441C>G (p.Pro25814Arg)
c.103484C>G (p.Pro34495Arg)
c.98882C>G (p.Pro32961Arg)
c.98879C>G (p.Pro32960Arg)
c.95921C>G (p.Pro31974Arg)
c.77537C>G (p.Pro25846Arg)
c.99032C>G (p.Pro33011Arg)
c.99029C>G (p.Pro33010Arg)
c.98462C>G (p.Pro32821Arg)
c.95804C>G (p.Pro31935Arg)
c.95723C>G (p.Pro31908Arg)
c.77486C>G (p.Pro25829Arg)
c.67340C>G (p.Pro22447Arg)
2g.178532024G=CA1310518032TTN,TTN-AS1c.96887C= (p.Pro32296=)
c.77972C= (p.Pro25991=)
c.77771C= (p.Pro25924=)
c.77396C= (p.Pro25799=)
c.104591C= (p.Pro34864=)
c.99668C= (p.Pro33223=)
n.446+8388G=
n.220-3708G=
c.103688C= (p.Pro34563=)
c.77582C= (p.Pro25861=)
c.77441C= (p.Pro25814=)
c.103484C= (p.Pro34495=)
c.98882C= (p.Pro32961=)
c.98879C= (p.Pro32960=)
c.95921C= (p.Pro31974=)
c.77537C= (p.Pro25846=)
c.99032C= (p.Pro33011=)
c.99029C= (p.Pro33010=)
c.98462C= (p.Pro32821=)
c.95804C= (p.Pro31935=)
c.95723C= (p.Pro31908=)
c.77486C= (p.Pro25829=)
c.67340C= (p.Pro22447=)
2g.178532024G>TCA349411347TTN,TTN-AS1c.96887C>A (p.Pro32296Gln)
c.77972C>A (p.Pro25991Gln)
c.77771C>A (p.Pro25924Gln)
c.77396C>A (p.Pro25799Gln)
c.104591C>A (p.Pro34864Gln)
c.99668C>A (p.Pro33223Gln)
n.446+8388G>T
n.220-3708G>T
c.103688C>A (p.Pro34563Gln)
c.77582C>A (p.Pro25861Gln)
c.77441C>A (p.Pro25814Gln)
c.103484C>A (p.Pro34495Gln)
c.98882C>A (p.Pro32961Gln)
c.98879C>A (p.Pro32960Gln)
c.95921C>A (p.Pro31974Gln)
c.77537C>A (p.Pro25846Gln)
c.99032C>A (p.Pro33011Gln)
c.99029C>A (p.Pro33010Gln)
c.98462C>A (p.Pro32821Gln)
c.95804C>A (p.Pro31935Gln)
c.95723C>A (p.Pro31908Gln)
c.77486C>A (p.Pro25829Gln)
c.67340C>A (p.Pro22447Gln)
2g.178532025G>ACA349411348TTN,TTN-AS1c.96886C>T (p.Pro32296Ser)
c.77971C>T (p.Pro25991Ser)
c.77770C>T (p.Pro25924Ser)
c.77395C>T (p.Pro25799Ser)
c.104590C>T (p.Pro34864Ser)
c.99667C>T (p.Pro33223Ser)
n.446+8389G>A
n.220-3707G>A
c.103687C>T (p.Pro34563Ser)
c.77581C>T (p.Pro25861Ser)
c.77440C>T (p.Pro25814Ser)
c.103483C>T (p.Pro34495Ser)
c.98881C>T (p.Pro32961Ser)
c.98878C>T (p.Pro32960Ser)
c.95920C>T (p.Pro31974Ser)
c.77536C>T (p.Pro25846Ser)
c.99031C>T (p.Pro33011Ser)
c.99028C>T (p.Pro33010Ser)
c.98461C>T (p.Pro32821Ser)
c.95803C>T (p.Pro31935Ser)
c.95722C>T (p.Pro31908Ser)
c.77485C>T (p.Pro25829Ser)
c.67339C>T (p.Pro22447Ser)
2g.178532025G>CCA349411349TTN,TTN-AS1c.96886C>G (p.Pro32296Ala)
c.77971C>G (p.Pro25991Ala)
c.77770C>G (p.Pro25924Ala)
c.77395C>G (p.Pro25799Ala)
c.104590C>G (p.Pro34864Ala)
c.99667C>G (p.Pro33223Ala)
n.446+8389G>C
n.220-3707G>C
c.103687C>G (p.Pro34563Ala)
c.77581C>G (p.Pro25861Ala)
c.77440C>G (p.Pro25814Ala)
c.103483C>G (p.Pro34495Ala)
c.98881C>G (p.Pro32961Ala)
c.98878C>G (p.Pro32960Ala)
c.95920C>G (p.Pro31974Ala)
c.77536C>G (p.Pro25846Ala)
c.99031C>G (p.Pro33011Ala)
c.99028C>G (p.Pro33010Ala)
c.98461C>G (p.Pro32821Ala)
c.95803C>G (p.Pro31935Ala)
c.95722C>G (p.Pro31908Ala)
c.77485C>G (p.Pro25829Ala)
c.67339C>G (p.Pro22447Ala)
 COSMIC COSMIC COSMIC COSMIC
2g.178532025G=CA1310518033TTN,TTN-AS1c.96886C= (p.Pro32296=)
c.77971C= (p.Pro25991=)
c.77770C= (p.Pro25924=)
c.77395C= (p.Pro25799=)
c.104590C= (p.Pro34864=)
c.99667C= (p.Pro33223=)
n.446+8389G=
n.220-3707G=
c.103687C= (p.Pro34563=)
c.77581C= (p.Pro25861=)
c.77440C= (p.Pro25814=)
c.103483C= (p.Pro34495=)
c.98881C= (p.Pro32961=)
c.98878C= (p.Pro32960=)
c.95920C= (p.Pro31974=)
c.77536C= (p.Pro25846=)
c.99031C= (p.Pro33011=)
c.99028C= (p.Pro33010=)
c.98461C= (p.Pro32821=)
c.95803C= (p.Pro31935=)
c.95722C= (p.Pro31908=)
c.77485C= (p.Pro25829=)
c.67339C= (p.Pro22447=)
2g.178532025G>TCA1985395TTN,TTN-AS1c.96886C>A (p.Pro32296Thr)
c.77971C>A (p.Pro25991Thr)
c.77770C>A (p.Pro25924Thr)
c.77395C>A (p.Pro25799Thr)
c.104590C>A (p.Pro34864Thr)
c.99667C>A (p.Pro33223Thr)
n.446+8389G>T
n.220-3707G>T
c.103687C>A (p.Pro34563Thr)
c.77581C>A (p.Pro25861Thr)
c.77440C>A (p.Pro25814Thr)
c.103483C>A (p.Pro34495Thr)
c.98881C>A (p.Pro32961Thr)
c.98878C>A (p.Pro32960Thr)
c.95920C>A (p.Pro31974Thr)
c.77536C>A (p.Pro25846Thr)
c.99031C>A (p.Pro33011Thr)
c.99028C>A (p.Pro33010Thr)
c.98461C>A (p.Pro32821Thr)
c.95803C>A (p.Pro31935Thr)
c.95722C>A (p.Pro31908Thr)
c.77485C>A (p.Pro25829Thr)
c.67339C>A (p.Pro22447Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178532026T>ACA349411350TTN,TTN-AS1c.96885A>T (p.Gln32295His)
c.77970A>T (p.Gln25990His)
c.77769A>T (p.Gln25923His)
c.77394A>T (p.Gln25798His)
c.104589A>T (p.Gln34863His)
c.99666A>T (p.Gln33222His)
n.446+8390T>A
n.220-3706T>A
c.103686A>T (p.Gln34562His)
c.77580A>T (p.Gln25860His)
c.77439A>T (p.Gln25813His)
c.103482A>T (p.Gln34494His)
c.98880A>T (p.Gln32960His)
c.98877A>T (p.Gln32959His)
c.95919A>T (p.Gln31973His)
c.77535A>T (p.Gln25845His)
c.99030A>T (p.Gln33010His)
c.99027A>T (p.Gln33009His)
c.98460A>T (p.Gln32820His)
c.95802A>T (p.Gln31934His)
c.95721A>T (p.Gln31907His)
c.77484A>T (p.Gln25828His)
c.67338A>T (p.Gln22446His)
2g.178532026T>CCA430235715TTN,TTN-AS1c.96885A>G (p.Gln32295=)
c.77970A>G (p.Gln25990=)
c.77769A>G (p.Gln25923=)
c.77394A>G (p.Gln25798=)
c.104589A>G (p.Gln34863=)
c.99666A>G (p.Gln33222=)
n.446+8390T>C
n.220-3706T>C
c.103686A>G (p.Gln34562=)
c.77580A>G (p.Gln25860=)
c.77439A>G (p.Gln25813=)
c.103482A>G (p.Gln34494=)
c.98880A>G (p.Gln32960=)
c.98877A>G (p.Gln32959=)
c.95919A>G (p.Gln31973=)
c.77535A>G (p.Gln25845=)
c.99030A>G (p.Gln33010=)
c.99027A>G (p.Gln33009=)
c.98460A>G (p.Gln32820=)
c.95802A>G (p.Gln31934=)
c.95721A>G (p.Gln31907=)
c.77484A>G (p.Gln25828=)
c.67338A>G (p.Gln22446=)
2g.178532026T>GCA349411351TTN,TTN-AS1c.96885A>C (p.Gln32295His)
c.77970A>C (p.Gln25990His)
c.77769A>C (p.Gln25923His)
c.77394A>C (p.Gln25798His)
c.104589A>C (p.Gln34863His)
c.99666A>C (p.Gln33222His)
n.446+8390T>G
n.220-3706T>G
c.103686A>C (p.Gln34562His)
c.77580A>C (p.Gln25860His)
c.77439A>C (p.Gln25813His)
c.103482A>C (p.Gln34494His)
c.98880A>C (p.Gln32960His)
c.98877A>C (p.Gln32959His)
c.95919A>C (p.Gln31973His)
c.77535A>C (p.Gln25845His)
c.99030A>C (p.Gln33010His)
c.99027A>C (p.Gln33009His)
c.98460A>C (p.Gln32820His)
c.95802A>C (p.Gln31934His)
c.95721A>C (p.Gln31907His)
c.77484A>C (p.Gln25828His)
c.67338A>C (p.Gln22446His)
2g.178532027T>ACA349411354TTN,TTN-AS1c.96884A>T (p.Gln32295Leu)
c.77969A>T (p.Gln25990Leu)
c.77768A>T (p.Gln25923Leu)
c.77393A>T (p.Gln25798Leu)
c.104588A>T (p.Gln34863Leu)
c.99665A>T (p.Gln33222Leu)
n.446+8391T>A
n.220-3705T>A
c.103685A>T (p.Gln34562Leu)
c.77579A>T (p.Gln25860Leu)
c.77438A>T (p.Gln25813Leu)
c.103481A>T (p.Gln34494Leu)
c.98879A>T (p.Gln32960Leu)
c.98876A>T (p.Gln32959Leu)
c.95918A>T (p.Gln31973Leu)
c.77534A>T (p.Gln25845Leu)
c.99029A>T (p.Gln33010Leu)
c.99026A>T (p.Gln33009Leu)
c.98459A>T (p.Gln32820Leu)
c.95801A>T (p.Gln31934Leu)
c.95720A>T (p.Gln31907Leu)
c.77483A>T (p.Gln25828Leu)
c.67337A>T (p.Gln22446Leu)
2g.178532027T>CCA349411353TTN,TTN-AS1c.96884A>G (p.Gln32295Arg)
c.77969A>G (p.Gln25990Arg)
c.77768A>G (p.Gln25923Arg)
c.77393A>G (p.Gln25798Arg)
c.104588A>G (p.Gln34863Arg)
c.99665A>G (p.Gln33222Arg)
n.446+8391T>C
n.220-3705T>C
c.103685A>G (p.Gln34562Arg)
c.77579A>G (p.Gln25860Arg)
c.77438A>G (p.Gln25813Arg)
c.103481A>G (p.Gln34494Arg)
c.98879A>G (p.Gln32960Arg)
c.98876A>G (p.Gln32959Arg)
c.95918A>G (p.Gln31973Arg)
c.77534A>G (p.Gln25845Arg)
c.99029A>G (p.Gln33010Arg)
c.99026A>G (p.Gln33009Arg)
c.98459A>G (p.Gln32820Arg)
c.95801A>G (p.Gln31934Arg)
c.95720A>G (p.Gln31907Arg)
c.77483A>G (p.Gln25828Arg)
c.67337A>G (p.Gln22446Arg)
2g.178532027T>GCA349411352TTN,TTN-AS1c.96884A>C (p.Gln32295Pro)
c.77969A>C (p.Gln25990Pro)
c.77768A>C (p.Gln25923Pro)
c.77393A>C (p.Gln25798Pro)
c.104588A>C (p.Gln34863Pro)
c.99665A>C (p.Gln33222Pro)
n.446+8391T>G
n.220-3705T>G
c.103685A>C (p.Gln34562Pro)
c.77579A>C (p.Gln25860Pro)
c.77438A>C (p.Gln25813Pro)
c.103481A>C (p.Gln34494Pro)
c.98879A>C (p.Gln32960Pro)
c.98876A>C (p.Gln32959Pro)
c.95918A>C (p.Gln31973Pro)
c.77534A>C (p.Gln25845Pro)
c.99029A>C (p.Gln33010Pro)
c.99026A>C (p.Gln33009Pro)
c.98459A>C (p.Gln32820Pro)
c.95801A>C (p.Gln31934Pro)
c.95720A>C (p.Gln31907Pro)
c.77483A>C (p.Gln25828Pro)
c.67337A>C (p.Gln22446Pro)
2g.178532028G>ACA349411355TTN,TTN-AS1c.96883C>T (p.Gln32295Ter)
c.77968C>T (p.Gln25990Ter)
c.77767C>T (p.Gln25923Ter)
c.77392C>T (p.Gln25798Ter)
c.104587C>T (p.Gln34863Ter)
c.99664C>T (p.Gln33222Ter)
n.446+8392G>A
n.220-3704G>A
c.103684C>T (p.Gln34562Ter)
c.77578C>T (p.Gln25860Ter)
c.77437C>T (p.Gln25813Ter)
c.103480C>T (p.Gln34494Ter)
c.98878C>T (p.Gln32960Ter)
c.98875C>T (p.Gln32959Ter)
c.95917C>T (p.Gln31973Ter)
c.77533C>T (p.Gln25845Ter)
c.99028C>T (p.Gln33010Ter)
c.99025C>T (p.Gln33009Ter)
c.98458C>T (p.Gln32820Ter)
c.95800C>T (p.Gln31934Ter)
c.95719C>T (p.Gln31907Ter)
c.77482C>T (p.Gln25828Ter)
c.67336C>T (p.Gln22446Ter)
 gnomAD v4
2g.178532028G>CCA349411357TTN,TTN-AS1c.96883C>G (p.Gln32295Glu)
c.77968C>G (p.Gln25990Glu)
c.77767C>G (p.Gln25923Glu)
c.77392C>G (p.Gln25798Glu)
c.104587C>G (p.Gln34863Glu)
c.99664C>G (p.Gln33222Glu)
n.446+8392G>C
n.220-3704G>C
c.103684C>G (p.Gln34562Glu)
c.77578C>G (p.Gln25860Glu)
c.77437C>G (p.Gln25813Glu)
c.103480C>G (p.Gln34494Glu)
c.98878C>G (p.Gln32960Glu)
c.98875C>G (p.Gln32959Glu)
c.95917C>G (p.Gln31973Glu)
c.77533C>G (p.Gln25845Glu)
c.99028C>G (p.Gln33010Glu)
c.99025C>G (p.Gln33009Glu)
c.98458C>G (p.Gln32820Glu)
c.95800C>G (p.Gln31934Glu)
c.95719C>G (p.Gln31907Glu)
c.77482C>G (p.Gln25828Glu)
c.67336C>G (p.Gln22446Glu)
2g.178532028G>TCA349411356TTN,TTN-AS1c.96883C>A (p.Gln32295Lys)
c.77968C>A (p.Gln25990Lys)
c.77767C>A (p.Gln25923Lys)
c.77392C>A (p.Gln25798Lys)
c.104587C>A (p.Gln34863Lys)
c.99664C>A (p.Gln33222Lys)
n.446+8392G>T
n.220-3704G>T
c.103684C>A (p.Gln34562Lys)
c.77578C>A (p.Gln25860Lys)
c.77437C>A (p.Gln25813Lys)
c.103480C>A (p.Gln34494Lys)
c.98878C>A (p.Gln32960Lys)
c.98875C>A (p.Gln32959Lys)
c.95917C>A (p.Gln31973Lys)
c.77533C>A (p.Gln25845Lys)
c.99028C>A (p.Gln33010Lys)
c.99025C>A (p.Gln33009Lys)
c.98458C>A (p.Gln32820Lys)
c.95800C>A (p.Gln31934Lys)
c.95719C>A (p.Gln31907Lys)
c.77482C>A (p.Gln25828Lys)
c.67336C>A (p.Gln22446Lys)
2g.178532029T>ACA430235733TTN,TTN-AS1c.96882A>T (p.Pro32294=)
c.77967A>T (p.Pro25989=)
c.77766A>T (p.Pro25922=)
c.77391A>T (p.Pro25797=)
c.104586A>T (p.Pro34862=)
c.99663A>T (p.Pro33221=)
n.446+8393T>A
n.220-3703T>A
c.103683A>T (p.Pro34561=)
c.77577A>T (p.Pro25859=)
c.77436A>T (p.Pro25812=)
c.103479A>T (p.Pro34493=)
c.98877A>T (p.Pro32959=)
c.98874A>T (p.Pro32958=)
c.95916A>T (p.Pro31972=)
c.77532A>T (p.Pro25844=)
c.99027A>T (p.Pro33009=)
c.99024A>T (p.Pro33008=)
c.98457A>T (p.Pro32819=)
c.95799A>T (p.Pro31933=)
c.95718A>T (p.Pro31906=)
c.77481A>T (p.Pro25827=)
c.67335A>T (p.Pro22445=)
 dbSNP gnomAD v4
2g.178532029T>CCA430235736TTN,TTN-AS1c.96882A>G (p.Pro32294=)
c.77967A>G (p.Pro25989=)
c.77766A>G (p.Pro25922=)
c.77391A>G (p.Pro25797=)
c.104586A>G (p.Pro34862=)
c.99663A>G (p.Pro33221=)
n.446+8393T>C
n.220-3703T>C
c.103683A>G (p.Pro34561=)
c.77577A>G (p.Pro25859=)
c.77436A>G (p.Pro25812=)
c.103479A>G (p.Pro34493=)
c.98877A>G (p.Pro32959=)
c.98874A>G (p.Pro32958=)
c.95916A>G (p.Pro31972=)
c.77532A>G (p.Pro25844=)
c.99027A>G (p.Pro33009=)
c.99024A>G (p.Pro33008=)
c.98457A>G (p.Pro32819=)
c.95799A>G (p.Pro31933=)
c.95718A>G (p.Pro31906=)
c.77481A>G (p.Pro25827=)
c.67335A>G (p.Pro22445=)
2g.178532029T>GCA430235734TTN,TTN-AS1c.96882A>C (p.Pro32294=)
c.77967A>C (p.Pro25989=)
c.77766A>C (p.Pro25922=)
c.77391A>C (p.Pro25797=)
c.104586A>C (p.Pro34862=)
c.99663A>C (p.Pro33221=)
n.446+8393T>G
n.220-3703T>G
c.103683A>C (p.Pro34561=)
c.77577A>C (p.Pro25859=)
c.77436A>C (p.Pro25812=)
c.103479A>C (p.Pro34493=)
c.98877A>C (p.Pro32959=)
c.98874A>C (p.Pro32958=)
c.95916A>C (p.Pro31972=)
c.77532A>C (p.Pro25844=)
c.99027A>C (p.Pro33009=)
c.99024A>C (p.Pro33008=)
c.98457A>C (p.Pro32819=)
c.95799A>C (p.Pro31933=)
c.95718A>C (p.Pro31906=)
c.77481A>C (p.Pro25827=)
c.67335A>C (p.Pro22445=)
2g.178532030G>ACA349411358TTN,TTN-AS1c.96881C>T (p.Pro32294Leu)
c.77966C>T (p.Pro25989Leu)
c.77765C>T (p.Pro25922Leu)
c.77390C>T (p.Pro25797Leu)
c.104585C>T (p.Pro34862Leu)
c.99662C>T (p.Pro33221Leu)
n.446+8394G>A
n.220-3702G>A
c.103682C>T (p.Pro34561Leu)
c.77576C>T (p.Pro25859Leu)
c.77435C>T (p.Pro25812Leu)
c.103478C>T (p.Pro34493Leu)
c.98876C>T (p.Pro32959Leu)
c.98873C>T (p.Pro32958Leu)
c.95915C>T (p.Pro31972Leu)
c.77531C>T (p.Pro25844Leu)
c.99026C>T (p.Pro33009Leu)
c.99023C>T (p.Pro33008Leu)
c.98456C>T (p.Pro32819Leu)
c.95798C>T (p.Pro31933Leu)
c.95717C>T (p.Pro31906Leu)
c.77480C>T (p.Pro25827Leu)
c.67334C>T (p.Pro22445Leu)
2g.178532030G>CCA349411359TTN,TTN-AS1c.96881C>G (p.Pro32294Arg)
c.77966C>G (p.Pro25989Arg)
c.77765C>G (p.Pro25922Arg)
c.77390C>G (p.Pro25797Arg)
c.104585C>G (p.Pro34862Arg)
c.99662C>G (p.Pro33221Arg)
n.446+8394G>C
n.220-3702G>C
c.103682C>G (p.Pro34561Arg)
c.77576C>G (p.Pro25859Arg)
c.77435C>G (p.Pro25812Arg)
c.103478C>G (p.Pro34493Arg)
c.98876C>G (p.Pro32959Arg)
c.98873C>G (p.Pro32958Arg)
c.95915C>G (p.Pro31972Arg)
c.77531C>G (p.Pro25844Arg)
c.99026C>G (p.Pro33009Arg)
c.99023C>G (p.Pro33008Arg)
c.98456C>G (p.Pro32819Arg)
c.95798C>G (p.Pro31933Arg)
c.95717C>G (p.Pro31906Arg)
c.77480C>G (p.Pro25827Arg)
c.67334C>G (p.Pro22445Arg)
2g.178532030G>TCA349411360TTN,TTN-AS1c.96881C>A (p.Pro32294Gln)
c.77966C>A (p.Pro25989Gln)
c.77765C>A (p.Pro25922Gln)
c.77390C>A (p.Pro25797Gln)
c.104585C>A (p.Pro34862Gln)
c.99662C>A (p.Pro33221Gln)
n.446+8394G>T
n.220-3702G>T
c.103682C>A (p.Pro34561Gln)
c.77576C>A (p.Pro25859Gln)
c.77435C>A (p.Pro25812Gln)
c.103478C>A (p.Pro34493Gln)
c.98876C>A (p.Pro32959Gln)
c.98873C>A (p.Pro32958Gln)
c.95915C>A (p.Pro31972Gln)
c.77531C>A (p.Pro25844Gln)
c.99026C>A (p.Pro33009Gln)
c.99023C>A (p.Pro33008Gln)
c.98456C>A (p.Pro32819Gln)
c.95798C>A (p.Pro31933Gln)
c.95717C>A (p.Pro31906Gln)
c.77480C>A (p.Pro25827Gln)
c.67334C>A (p.Pro22445Gln)
2g.178532031G>ACA349411361TTN,TTN-AS1c.96880C>T (p.Pro32294Ser)
c.77965C>T (p.Pro25989Ser)
c.77764C>T (p.Pro25922Ser)
c.77389C>T (p.Pro25797Ser)
c.104584C>T (p.Pro34862Ser)
c.99661C>T (p.Pro33221Ser)
n.446+8395G>A
n.220-3701G>A
c.103681C>T (p.Pro34561Ser)
c.77575C>T (p.Pro25859Ser)
c.77434C>T (p.Pro25812Ser)
c.103477C>T (p.Pro34493Ser)
c.98875C>T (p.Pro32959Ser)
c.98872C>T (p.Pro32958Ser)
c.95914C>T (p.Pro31972Ser)
c.77530C>T (p.Pro25844Ser)
c.99025C>T (p.Pro33009Ser)
c.99022C>T (p.Pro33008Ser)
c.98455C>T (p.Pro32819Ser)
c.95797C>T (p.Pro31933Ser)
c.95716C>T (p.Pro31906Ser)
c.77479C>T (p.Pro25827Ser)
c.67333C>T (p.Pro22445Ser)
 ClinVar dbSNP
2g.178532031G>CCA349411362TTN,TTN-AS1c.96880C>G (p.Pro32294Ala)
c.77965C>G (p.Pro25989Ala)
c.77764C>G (p.Pro25922Ala)
c.77389C>G (p.Pro25797Ala)
c.104584C>G (p.Pro34862Ala)
c.99661C>G (p.Pro33221Ala)
n.446+8395G>C
n.220-3701G>C
c.103681C>G (p.Pro34561Ala)
c.77575C>G (p.Pro25859Ala)
c.77434C>G (p.Pro25812Ala)
c.103477C>G (p.Pro34493Ala)
c.98875C>G (p.Pro32959Ala)
c.98872C>G (p.Pro32958Ala)
c.95914C>G (p.Pro31972Ala)
c.77530C>G (p.Pro25844Ala)
c.99025C>G (p.Pro33009Ala)
c.99022C>G (p.Pro33008Ala)
c.98455C>G (p.Pro32819Ala)
c.95797C>G (p.Pro31933Ala)
c.95716C>G (p.Pro31906Ala)
c.77479C>G (p.Pro25827Ala)
c.67333C>G (p.Pro22445Ala)
2g.178532031G>TCA349411363TTN,TTN-AS1c.96880C>A (p.Pro32294Thr)
c.77965C>A (p.Pro25989Thr)
c.77764C>A (p.Pro25922Thr)
c.77389C>A (p.Pro25797Thr)
c.104584C>A (p.Pro34862Thr)
c.99661C>A (p.Pro33221Thr)
n.446+8395G>T
n.220-3701G>T
c.103681C>A (p.Pro34561Thr)
c.77575C>A (p.Pro25859Thr)
c.77434C>A (p.Pro25812Thr)
c.103477C>A (p.Pro34493Thr)
c.98875C>A (p.Pro32959Thr)
c.98872C>A (p.Pro32958Thr)
c.95914C>A (p.Pro31972Thr)
c.77530C>A (p.Pro25844Thr)
c.99025C>A (p.Pro33009Thr)
c.99022C>A (p.Pro33008Thr)
c.98455C>A (p.Pro32819Thr)
c.95797C>A (p.Pro31933Thr)
c.95716C>A (p.Pro31906Thr)
c.77479C>A (p.Pro25827Thr)
c.67333C>A (p.Pro22445Thr)
2g.178532032A=CA1310518034TTN,TTN-AS1c.96879T= (p.Arg32293=)
c.77964T= (p.Arg25988=)
c.77763T= (p.Arg25921=)
c.77388T= (p.Arg25796=)
c.104583T= (p.Arg34861=)
c.99660T= (p.Arg33220=)
n.446+8396A=
n.220-3700A=
c.103680T= (p.Arg34560=)
c.77574T= (p.Arg25858=)
c.77433T= (p.Arg25811=)
c.103476T= (p.Arg34492=)
c.98874T= (p.Arg32958=)
c.98871T= (p.Arg32957=)
c.95913T= (p.Arg31971=)
c.77529T= (p.Arg25843=)
c.99024T= (p.Arg33008=)
c.99021T= (p.Arg33007=)
c.98454T= (p.Arg32818=)
c.95796T= (p.Arg31932=)
c.95715T= (p.Arg31905=)
c.77478T= (p.Arg25826=)
c.67332T= (p.Arg22444=)
2g.178532032A>CCA430235742TTN,TTN-AS1c.96879T>G (p.Arg32293=)
c.77964T>G (p.Arg25988=)
c.77763T>G (p.Arg25921=)
c.77388T>G (p.Arg25796=)
c.104583T>G (p.Arg34861=)
c.99660T>G (p.Arg33220=)
n.446+8396A>C
n.220-3700A>C
c.103680T>G (p.Arg34560=)
c.77574T>G (p.Arg25858=)
c.77433T>G (p.Arg25811=)
c.103476T>G (p.Arg34492=)
c.98874T>G (p.Arg32958=)
c.98871T>G (p.Arg32957=)
c.95913T>G (p.Arg31971=)
c.77529T>G (p.Arg25843=)
c.99024T>G (p.Arg33008=)
c.99021T>G (p.Arg33007=)
c.98454T>G (p.Arg32818=)
c.95796T>G (p.Arg31932=)
c.95715T>G (p.Arg31905=)
c.77478T>G (p.Arg25826=)
c.67332T>G (p.Arg22444=)
2g.178532032A>GCA60956092TTN,TTN-AS1c.96879T>C (p.Arg32293=)
c.77964T>C (p.Arg25988=)
c.77763T>C (p.Arg25921=)
c.77388T>C (p.Arg25796=)
c.104583T>C (p.Arg34861=)
c.99660T>C (p.Arg33220=)
n.446+8396A>G
n.220-3700A>G
c.103680T>C (p.Arg34560=)
c.77574T>C (p.Arg25858=)
c.77433T>C (p.Arg25811=)
c.103476T>C (p.Arg34492=)
c.98874T>C (p.Arg32958=)
c.98871T>C (p.Arg32957=)
c.95913T>C (p.Arg31971=)
c.77529T>C (p.Arg25843=)
c.99024T>C (p.Arg33008=)
c.99021T>C (p.Arg33007=)
c.98454T>C (p.Arg32818=)
c.95796T>C (p.Arg31932=)
c.95715T>C (p.Arg31905=)
c.77478T>C (p.Arg25826=)
c.67332T>C (p.Arg22444=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.178532032A>TCA430235745TTN,TTN-AS1c.96879T>A (p.Arg32293=)
c.77964T>A (p.Arg25988=)
c.77763T>A (p.Arg25921=)
c.77388T>A (p.Arg25796=)
c.104583T>A (p.Arg34861=)
c.99660T>A (p.Arg33220=)
n.446+8396A>T
n.220-3700A>T
c.103680T>A (p.Arg34560=)
c.77574T>A (p.Arg25858=)
c.77433T>A (p.Arg25811=)
c.103476T>A (p.Arg34492=)
c.98874T>A (p.Arg32958=)
c.98871T>A (p.Arg32957=)
c.95913T>A (p.Arg31971=)
c.77529T>A (p.Arg25843=)
c.99024T>A (p.Arg33008=)
c.99021T>A (p.Arg33007=)
c.98454T>A (p.Arg32818=)
c.95796T>A (p.Arg31932=)
c.95715T>A (p.Arg31905=)
c.77478T>A (p.Arg25826=)
c.67332T>A (p.Arg22444=)
 gnomAD v4
2g.178532033C>ACA349411364TTN,TTN-AS1c.96878G>T (p.Arg32293Leu)
c.77963G>T (p.Arg25988Leu)
c.77762G>T (p.Arg25921Leu)
c.77387G>T (p.Arg25796Leu)
c.104582G>T (p.Arg34861Leu)
c.99659G>T (p.Arg33220Leu)
n.446+8397C>A
n.220-3699C>A
c.103679G>T (p.Arg34560Leu)
c.77573G>T (p.Arg25858Leu)
c.77432G>T (p.Arg25811Leu)
c.103475G>T (p.Arg34492Leu)
c.98873G>T (p.Arg32958Leu)
c.98870G>T (p.Arg32957Leu)
c.95912G>T (p.Arg31971Leu)
c.77528G>T (p.Arg25843Leu)
c.99023G>T (p.Arg33008Leu)
c.99020G>T (p.Arg33007Leu)
c.98453G>T (p.Arg32818Leu)
c.95795G>T (p.Arg31932Leu)
c.95714G>T (p.Arg31905Leu)
c.77477G>T (p.Arg25826Leu)
c.67331G>T (p.Arg22444Leu)
 dbSNP gnomAD v2 gnomAD v4
2g.178532033C=CA1310518035TTN,TTN-AS1c.96878G= (p.Arg32293=)
c.77963G= (p.Arg25988=)
c.77762G= (p.Arg25921=)
c.77387G= (p.Arg25796=)
c.104582G= (p.Arg34861=)
c.99659G= (p.Arg33220=)
n.446+8397C=
n.220-3699C=
c.103679G= (p.Arg34560=)
c.77573G= (p.Arg25858=)
c.77432G= (p.Arg25811=)
c.103475G= (p.Arg34492=)
c.98873G= (p.Arg32958=)
c.98870G= (p.Arg32957=)
c.95912G= (p.Arg31971=)
c.77528G= (p.Arg25843=)
c.99023G= (p.Arg33008=)
c.99020G= (p.Arg33007=)
c.98453G= (p.Arg32818=)
c.95795G= (p.Arg31932=)
c.95714G= (p.Arg31905=)
c.77477G= (p.Arg25826=)
c.67331G= (p.Arg22444=)
2g.178532033C>GCA349411365TTN,TTN-AS1c.96878G>C (p.Arg32293Pro)
c.77963G>C (p.Arg25988Pro)
c.77762G>C (p.Arg25921Pro)
c.77387G>C (p.Arg25796Pro)
c.104582G>C (p.Arg34861Pro)
c.99659G>C (p.Arg33220Pro)
n.446+8397C>G
n.220-3699C>G
c.103679G>C (p.Arg34560Pro)
c.77573G>C (p.Arg25858Pro)
c.77432G>C (p.Arg25811Pro)
c.103475G>C (p.Arg34492Pro)
c.98873G>C (p.Arg32958Pro)
c.98870G>C (p.Arg32957Pro)
c.95912G>C (p.Arg31971Pro)
c.77528G>C (p.Arg25843Pro)
c.99023G>C (p.Arg33008Pro)
c.99020G>C (p.Arg33007Pro)
c.98453G>C (p.Arg32818Pro)
c.95795G>C (p.Arg31932Pro)
c.95714G>C (p.Arg31905Pro)
c.77477G>C (p.Arg25826Pro)
c.67331G>C (p.Arg22444Pro)
2g.178532033C>TCA1985396TTN,TTN-AS1c.96878G>A (p.Arg32293His)
c.77963G>A (p.Arg25988His)
c.77762G>A (p.Arg25921His)
c.77387G>A (p.Arg25796His)
c.104582G>A (p.Arg34861His)
c.99659G>A (p.Arg33220His)
n.446+8397C>T
n.220-3699C>T
c.103679G>A (p.Arg34560His)
c.77573G>A (p.Arg25858His)
c.77432G>A (p.Arg25811His)
c.103475G>A (p.Arg34492His)
c.98873G>A (p.Arg32958His)
c.98870G>A (p.Arg32957His)
c.95912G>A (p.Arg31971His)
c.77528G>A (p.Arg25843His)
c.99023G>A (p.Arg33008His)
c.99020G>A (p.Arg33007His)
c.98453G>A (p.Arg32818His)
c.95795G>A (p.Arg31932His)
c.95714G>A (p.Arg31905His)
c.77477G>A (p.Arg25826His)
c.67331G>A (p.Arg22444His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
2g.178532034G>ACA224015TTN,TTN-AS1c.96877C>T (p.Arg32293Cys)
c.77962C>T (p.Arg25988Cys)
c.77761C>T (p.Arg25921Cys)
c.77386C>T (p.Arg25796Cys)
c.104581C>T (p.Arg34861Cys)
c.99658C>T (p.Arg33220Cys)
n.446+8398G>A
n.220-3698G>A
c.103678C>T (p.Arg34560Cys)
c.77572C>T (p.Arg25858Cys)
c.77431C>T (p.Arg25811Cys)
c.103474C>T (p.Arg34492Cys)
c.98872C>T (p.Arg32958Cys)
c.98869C>T (p.Arg32957Cys)
c.95911C>T (p.Arg31971Cys)
c.77527C>T (p.Arg25843Cys)
c.99022C>T (p.Arg33008Cys)
c.99019C>T (p.Arg33007Cys)
c.98452C>T (p.Arg32818Cys)
c.95794C>T (p.Arg31932Cys)
c.95713C>T (p.Arg31905Cys)
c.77476C>T (p.Arg25826Cys)
c.67330C>T (p.Arg22444Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178532034G>CCA349411366TTN,TTN-AS1c.96877C>G (p.Arg32293Gly)
c.77962C>G (p.Arg25988Gly)
c.77761C>G (p.Arg25921Gly)
c.77386C>G (p.Arg25796Gly)
c.104581C>G (p.Arg34861Gly)
c.99658C>G (p.Arg33220Gly)
n.446+8398G>C
n.220-3698G>C
c.103678C>G (p.Arg34560Gly)
c.77572C>G (p.Arg25858Gly)
c.77431C>G (p.Arg25811Gly)
c.103474C>G (p.Arg34492Gly)
c.98872C>G (p.Arg32958Gly)
c.98869C>G (p.Arg32957Gly)
c.95911C>G (p.Arg31971Gly)
c.77527C>G (p.Arg25843Gly)
c.99022C>G (p.Arg33008Gly)
c.99019C>G (p.Arg33007Gly)
c.98452C>G (p.Arg32818Gly)
c.95794C>G (p.Arg31932Gly)
c.95713C>G (p.Arg31905Gly)
c.77476C>G (p.Arg25826Gly)
c.67330C>G (p.Arg22444Gly)
2g.178532034G=CA1310518036TTN,TTN-AS1c.96877C= (p.Arg32293=)
c.77962C= (p.Arg25988=)
c.77761C= (p.Arg25921=)
c.77386C= (p.Arg25796=)
c.104581C= (p.Arg34861=)
c.99658C= (p.Arg33220=)
n.446+8398G=
n.220-3698G=
c.103678C= (p.Arg34560=)
c.77572C= (p.Arg25858=)
c.77431C= (p.Arg25811=)
c.103474C= (p.Arg34492=)
c.98872C= (p.Arg32958=)
c.98869C= (p.Arg32957=)
c.95911C= (p.Arg31971=)
c.77527C= (p.Arg25843=)
c.99022C= (p.Arg33008=)
c.99019C= (p.Arg33007=)
c.98452C= (p.Arg32818=)
c.95794C= (p.Arg31932=)
c.95713C= (p.Arg31905=)
c.77476C= (p.Arg25826=)
c.67330C= (p.Arg22444=)
2g.178532034G>TCA349411367TTN,TTN-AS1c.96877C>A (p.Arg32293Ser)
c.77962C>A (p.Arg25988Ser)
c.77761C>A (p.Arg25921Ser)
c.77386C>A (p.Arg25796Ser)
c.104581C>A (p.Arg34861Ser)
c.99658C>A (p.Arg33220Ser)
n.446+8398G>T
n.220-3698G>T
c.103678C>A (p.Arg34560Ser)
c.77572C>A (p.Arg25858Ser)
c.77431C>A (p.Arg25811Ser)
c.103474C>A (p.Arg34492Ser)
c.98872C>A (p.Arg32958Ser)
c.98869C>A (p.Arg32957Ser)
c.95911C>A (p.Arg31971Ser)
c.77527C>A (p.Arg25843Ser)
c.99022C>A (p.Arg33008Ser)
c.99019C>A (p.Arg33007Ser)
c.98452C>A (p.Arg32818Ser)
c.95794C>A (p.Arg31932Ser)
c.95713C>A (p.Arg31905Ser)
c.77476C>A (p.Arg25826Ser)
c.67330C>A (p.Arg22444Ser)
2g.178532035T>ACA430235751TTN,TTN-AS1c.96876A>T (p.Ser32292=)
c.77961A>T (p.Ser25987=)
c.77760A>T (p.Ser25920=)
c.77385A>T (p.Ser25795=)
c.104580A>T (p.Ser34860=)
c.99657A>T (p.Ser33219=)
n.446+8399T>A
n.220-3697T>A
c.103677A>T (p.Ser34559=)
c.77571A>T (p.Ser25857=)
c.77430A>T (p.Ser25810=)
c.103473A>T (p.Ser34491=)
c.98871A>T (p.Ser32957=)
c.98868A>T (p.Ser32956=)
c.95910A>T (p.Ser31970=)
c.77526A>T (p.Ser25842=)
c.99021A>T (p.Ser33007=)
c.99018A>T (p.Ser33006=)
c.98451A>T (p.Ser32817=)
c.95793A>T (p.Ser31931=)
c.95712A>T (p.Ser31904=)
c.77475A>T (p.Ser25825=)
c.67329A>T (p.Ser22443=)
2g.178532035T>CCA1985397TTN,TTN-AS1c.96876A>G (p.Ser32292=)
c.77961A>G (p.Ser25987=)
c.77760A>G (p.Ser25920=)
c.77385A>G (p.Ser25795=)
c.104580A>G (p.Ser34860=)
c.99657A>G (p.Ser33219=)
n.446+8399T>C
n.220-3697T>C
c.103677A>G (p.Ser34559=)
c.77571A>G (p.Ser25857=)
c.77430A>G (p.Ser25810=)
c.103473A>G (p.Ser34491=)
c.98871A>G (p.Ser32957=)
c.98868A>G (p.Ser32956=)
c.95910A>G (p.Ser31970=)
c.77526A>G (p.Ser25842=)
c.99021A>G (p.Ser33007=)
c.99018A>G (p.Ser33006=)
c.98451A>G (p.Ser32817=)
c.95793A>G (p.Ser31931=)
c.95712A>G (p.Ser31904=)
c.77475A>G (p.Ser25825=)
c.67329A>G (p.Ser22443=)
 ClinVar dbSNP ExAC gnomAD v2
2g.178532035T>GCA430235752TTN,TTN-AS1c.96876A>C (p.Ser32292=)
c.77961A>C (p.Ser25987=)
c.77760A>C (p.Ser25920=)
c.77385A>C (p.Ser25795=)
c.104580A>C (p.Ser34860=)
c.99657A>C (p.Ser33219=)
n.446+8399T>G
n.220-3697T>G
c.103677A>C (p.Ser34559=)
c.77571A>C (p.Ser25857=)
c.77430A>C (p.Ser25810=)
c.103473A>C (p.Ser34491=)
c.98871A>C (p.Ser32957=)
c.98868A>C (p.Ser32956=)
c.95910A>C (p.Ser31970=)
c.77526A>C (p.Ser25842=)
c.99021A>C (p.Ser33007=)
c.99018A>C (p.Ser33006=)
c.98451A>C (p.Ser32817=)
c.95793A>C (p.Ser31931=)
c.95712A>C (p.Ser31904=)
c.77475A>C (p.Ser25825=)
c.67329A>C (p.Ser22443=)
2g.178532035T=CA1310518037TTN,TTN-AS1c.96876A= (p.Ser32292=)
c.77961A= (p.Ser25987=)
c.77760A= (p.Ser25920=)
c.77385A= (p.Ser25795=)
c.104580A= (p.Ser34860=)
c.99657A= (p.Ser33219=)
n.446+8399T=
n.220-3697T=
c.103677A= (p.Ser34559=)
c.77571A= (p.Ser25857=)
c.77430A= (p.Ser25810=)
c.103473A= (p.Ser34491=)
c.98871A= (p.Ser32957=)
c.98868A= (p.Ser32956=)
c.95910A= (p.Ser31970=)
c.77526A= (p.Ser25842=)
c.99021A= (p.Ser33007=)
c.99018A= (p.Ser33006=)
c.98451A= (p.Ser32817=)
c.95793A= (p.Ser31931=)
c.95712A= (p.Ser31904=)
c.77475A= (p.Ser25825=)
c.67329A= (p.Ser22443=)
2g.178532036G>ACA349411368TTN,TTN-AS1c.96875C>T (p.Ser32292Leu)
c.77960C>T (p.Ser25987Leu)
c.77759C>T (p.Ser25920Leu)
c.77384C>T (p.Ser25795Leu)
c.104579C>T (p.Ser34860Leu)
c.99656C>T (p.Ser33219Leu)
n.446+8400G>A
n.220-3696G>A
c.103676C>T (p.Ser34559Leu)
c.77570C>T (p.Ser25857Leu)
c.77429C>T (p.Ser25810Leu)
c.103472C>T (p.Ser34491Leu)
c.98870C>T (p.Ser32957Leu)
c.98867C>T (p.Ser32956Leu)
c.95909C>T (p.Ser31970Leu)
c.77525C>T (p.Ser25842Leu)
c.99020C>T (p.Ser33007Leu)
c.99017C>T (p.Ser33006Leu)
c.98450C>T (p.Ser32817Leu)
c.95792C>T (p.Ser31931Leu)
c.95711C>T (p.Ser31904Leu)
c.77474C>T (p.Ser25825Leu)
c.67328C>T (p.Ser22443Leu)
2g.178532036G>CCA349411369TTN,TTN-AS1c.96875C>G (p.Ser32292Ter)
c.77960C>G (p.Ser25987Ter)
c.77759C>G (p.Ser25920Ter)
c.77384C>G (p.Ser25795Ter)
c.104579C>G (p.Ser34860Ter)
c.99656C>G (p.Ser33219Ter)
n.446+8400G>C
n.220-3696G>C
c.103676C>G (p.Ser34559Ter)
c.77570C>G (p.Ser25857Ter)
c.77429C>G (p.Ser25810Ter)
c.103472C>G (p.Ser34491Ter)
c.98870C>G (p.Ser32957Ter)
c.98867C>G (p.Ser32956Ter)
c.95909C>G (p.Ser31970Ter)
c.77525C>G (p.Ser25842Ter)
c.99020C>G (p.Ser33007Ter)
c.99017C>G (p.Ser33006Ter)
c.98450C>G (p.Ser32817Ter)
c.95792C>G (p.Ser31931Ter)
c.95711C>G (p.Ser31904Ter)
c.77474C>G (p.Ser25825Ter)
c.67328C>G (p.Ser22443Ter)
2g.178532036G>TCA349411370TTN,TTN-AS1c.96875C>A (p.Ser32292Ter)
c.77960C>A (p.Ser25987Ter)
c.77759C>A (p.Ser25920Ter)
c.77384C>A (p.Ser25795Ter)
c.104579C>A (p.Ser34860Ter)
c.99656C>A (p.Ser33219Ter)
n.446+8400G>T
n.220-3696G>T
c.103676C>A (p.Ser34559Ter)
c.77570C>A (p.Ser25857Ter)
c.77429C>A (p.Ser25810Ter)
c.103472C>A (p.Ser34491Ter)
c.98870C>A (p.Ser32957Ter)
c.98867C>A (p.Ser32956Ter)
c.95909C>A (p.Ser31970Ter)
c.77525C>A (p.Ser25842Ter)
c.99020C>A (p.Ser33007Ter)
c.99017C>A (p.Ser33006Ter)
c.98450C>A (p.Ser32817Ter)
c.95792C>A (p.Ser31931Ter)
c.95711C>A (p.Ser31904Ter)
c.77474C>A (p.Ser25825Ter)
c.67328C>A (p.Ser22443Ter)
2g.178532037A=CA1310518038TTN,TTN-AS1c.96874T= (p.Ser32292=)
c.77959T= (p.Ser25987=)
c.77758T= (p.Ser25920=)
c.77383T= (p.Ser25795=)
c.104578T= (p.Ser34860=)
c.99655T= (p.Ser33219=)
n.446+8401A=
n.220-3695A=
c.103675T= (p.Ser34559=)
c.77569T= (p.Ser25857=)
c.77428T= (p.Ser25810=)
c.103471T= (p.Ser34491=)
c.98869T= (p.Ser32957=)
c.98866T= (p.Ser32956=)
c.95908T= (p.Ser31970=)
c.77524T= (p.Ser25842=)
c.99019T= (p.Ser33007=)
c.99016T= (p.Ser33006=)
c.98449T= (p.Ser32817=)
c.95791T= (p.Ser31931=)
c.95710T= (p.Ser31904=)
c.77473T= (p.Ser25825=)
c.67327T= (p.Ser22443=)
2g.178532037A>CCA349411371TTN,TTN-AS1c.96874T>G (p.Ser32292Ala)
c.77959T>G (p.Ser25987Ala)
c.77758T>G (p.Ser25920Ala)
c.77383T>G (p.Ser25795Ala)
c.104578T>G (p.Ser34860Ala)
c.99655T>G (p.Ser33219Ala)
n.446+8401A>C
n.220-3695A>C
c.103675T>G (p.Ser34559Ala)
c.77569T>G (p.Ser25857Ala)
c.77428T>G (p.Ser25810Ala)
c.103471T>G (p.Ser34491Ala)
c.98869T>G (p.Ser32957Ala)
c.98866T>G (p.Ser32956Ala)
c.95908T>G (p.Ser31970Ala)
c.77524T>G (p.Ser25842Ala)
c.99019T>G (p.Ser33007Ala)
c.99016T>G (p.Ser33006Ala)
c.98449T>G (p.Ser32817Ala)
c.95791T>G (p.Ser31931Ala)
c.95710T>G (p.Ser31904Ala)
c.77473T>G (p.Ser25825Ala)
c.67327T>G (p.Ser22443Ala)
 dbSNP gnomAD v2 gnomAD v4
2g.178532037A>GCA1985398TTN,TTN-AS1c.96874T>C (p.Ser32292Pro)
c.77959T>C (p.Ser25987Pro)
c.77758T>C (p.Ser25920Pro)
c.77383T>C (p.Ser25795Pro)
c.104578T>C (p.Ser34860Pro)
c.99655T>C (p.Ser33219Pro)
n.446+8401A>G
n.220-3695A>G
c.103675T>C (p.Ser34559Pro)
c.77569T>C (p.Ser25857Pro)
c.77428T>C (p.Ser25810Pro)
c.103471T>C (p.Ser34491Pro)
c.98869T>C (p.Ser32957Pro)
c.98866T>C (p.Ser32956Pro)
c.95908T>C (p.Ser31970Pro)
c.77524T>C (p.Ser25842Pro)
c.99019T>C (p.Ser33007Pro)
c.99016T>C (p.Ser33006Pro)
c.98449T>C (p.Ser32817Pro)
c.95791T>C (p.Ser31931Pro)
c.95710T>C (p.Ser31904Pro)
c.77473T>C (p.Ser25825Pro)
c.67327T>C (p.Ser22443Pro)
 dbSNP ExAC gnomAD v2
2g.178532037A>TCA349411372TTN,TTN-AS1c.96874T>A (p.Ser32292Thr)
c.77959T>A (p.Ser25987Thr)
c.77758T>A (p.Ser25920Thr)
c.77383T>A (p.Ser25795Thr)
c.104578T>A (p.Ser34860Thr)
c.99655T>A (p.Ser33219Thr)
n.446+8401A>T
n.220-3695A>T
c.103675T>A (p.Ser34559Thr)
c.77569T>A (p.Ser25857Thr)
c.77428T>A (p.Ser25810Thr)
c.103471T>A (p.Ser34491Thr)
c.98869T>A (p.Ser32957Thr)
c.98866T>A (p.Ser32956Thr)
c.95908T>A (p.Ser31970Thr)
c.77524T>A (p.Ser25842Thr)
c.99019T>A (p.Ser33007Thr)
c.99016T>A (p.Ser33006Thr)
c.98449T>A (p.Ser32817Thr)
c.95791T>A (p.Ser31931Thr)
c.95710T>A (p.Ser31904Thr)
c.77473T>A (p.Ser25825Thr)
c.67327T>A (p.Ser22443Thr)
2g.178532038C>ACA430235758TTN,TTN-AS1c.96873G>T (p.Arg32291=)
c.77958G>T (p.Arg25986=)
c.77757G>T (p.Arg25919=)
c.77382G>T (p.Arg25794=)
c.104577G>T (p.Arg34859=)
c.99654G>T (p.Arg33218=)
n.446+8402C>A
n.220-3694C>A
c.103674G>T (p.Arg34558=)
c.77568G>T (p.Arg25856=)
c.77427G>T (p.Arg25809=)
c.103470G>T (p.Arg34490=)
c.98868G>T (p.Arg32956=)
c.98865G>T (p.Arg32955=)
c.95907G>T (p.Arg31969=)
c.77523G>T (p.Arg25841=)
c.99018G>T (p.Arg33006=)
c.99015G>T (p.Arg33005=)
c.98448G>T (p.Arg32816=)
c.95790G>T (p.Arg31930=)
c.95709G>T (p.Arg31903=)
c.77472G>T (p.Arg25824=)
c.67326G>T (p.Arg22442=)
2g.178532038C=CA1310518039TTN,TTN-AS1c.96873G= (p.Arg32291=)
c.77958G= (p.Arg25986=)
c.77757G= (p.Arg25919=)
c.77382G= (p.Arg25794=)
c.104577G= (p.Arg34859=)
c.99654G= (p.Arg33218=)
n.446+8402C=
n.220-3694C=
c.103674G= (p.Arg34558=)
c.77568G= (p.Arg25856=)
c.77427G= (p.Arg25809=)
c.103470G= (p.Arg34490=)
c.98868G= (p.Arg32956=)
c.98865G= (p.Arg32955=)
c.95907G= (p.Arg31969=)
c.77523G= (p.Arg25841=)
c.99018G= (p.Arg33006=)
c.99015G= (p.Arg33005=)
c.98448G= (p.Arg32816=)
c.95790G= (p.Arg31930=)
c.95709G= (p.Arg31903=)
c.77472G= (p.Arg25824=)
c.67326G= (p.Arg22442=)
2g.178532038C>GCA430235759TTN,TTN-AS1c.96873G>C (p.Arg32291=)
c.77958G>C (p.Arg25986=)
c.77757G>C (p.Arg25919=)
c.77382G>C (p.Arg25794=)
c.104577G>C (p.Arg34859=)
c.99654G>C (p.Arg33218=)
n.446+8402C>G
n.220-3694C>G
c.103674G>C (p.Arg34558=)
c.77568G>C (p.Arg25856=)
c.77427G>C (p.Arg25809=)
c.103470G>C (p.Arg34490=)
c.98868G>C (p.Arg32956=)
c.98865G>C (p.Arg32955=)
c.95907G>C (p.Arg31969=)
c.77523G>C (p.Arg25841=)
c.99018G>C (p.Arg33006=)
c.99015G>C (p.Arg33005=)
c.98448G>C (p.Arg32816=)
c.95790G>C (p.Arg31930=)
c.95709G>C (p.Arg31903=)
c.77472G>C (p.Arg25824=)
c.67326G>C (p.Arg22442=)
 dbSNP gnomAD v3 gnomAD v4
2g.178532038C>TCA430235760TTN,TTN-AS1c.96873G>A (p.Arg32291=)
c.77958G>A (p.Arg25986=)
c.77757G>A (p.Arg25919=)
c.77382G>A (p.Arg25794=)
c.104577G>A (p.Arg34859=)
c.99654G>A (p.Arg33218=)
n.446+8402C>T
n.220-3694C>T
c.103674G>A (p.Arg34558=)
c.77568G>A (p.Arg25856=)
c.77427G>A (p.Arg25809=)
c.103470G>A (p.Arg34490=)
c.98868G>A (p.Arg32956=)
c.98865G>A (p.Arg32955=)
c.95907G>A (p.Arg31969=)
c.77523G>A (p.Arg25841=)
c.99018G>A (p.Arg33006=)
c.99015G>A (p.Arg33005=)
c.98448G>A (p.Arg32816=)
c.95790G>A (p.Arg31930=)
c.95709G>A (p.Arg31903=)
c.77472G>A (p.Arg25824=)
c.67326G>A (p.Arg22442=)
2g.178532039C>ACA349411373TTN,TTN-AS1c.96872G>T (p.Arg32291Leu)
c.77957G>T (p.Arg25986Leu)
c.77756G>T (p.Arg25919Leu)
c.77381G>T (p.Arg25794Leu)
c.104576G>T (p.Arg34859Leu)
c.99653G>T (p.Arg33218Leu)
n.446+8403C>A
n.220-3693C>A
c.103673G>T (p.Arg34558Leu)
c.77567G>T (p.Arg25856Leu)
c.77426G>T (p.Arg25809Leu)
c.103469G>T (p.Arg34490Leu)
c.98867G>T (p.Arg32956Leu)
c.98864G>T (p.Arg32955Leu)
c.95906G>T (p.Arg31969Leu)
c.77522G>T (p.Arg25841Leu)
c.99017G>T (p.Arg33006Leu)
c.99014G>T (p.Arg33005Leu)
c.98447G>T (p.Arg32816Leu)
c.95789G>T (p.Arg31930Leu)
c.95708G>T (p.Arg31903Leu)
c.77471G>T (p.Arg25824Leu)
c.67325G>T (p.Arg22442Leu)
 gnomAD v4
2g.178532039C=CA1310518040TTN,TTN-AS1c.96872G= (p.Arg32291=)
c.77957G= (p.Arg25986=)
c.77756G= (p.Arg25919=)
c.77381G= (p.Arg25794=)
c.104576G= (p.Arg34859=)
c.99653G= (p.Arg33218=)
n.446+8403C=
n.220-3693C=
c.103673G= (p.Arg34558=)
c.77567G= (p.Arg25856=)
c.77426G= (p.Arg25809=)
c.103469G= (p.Arg34490=)
c.98867G= (p.Arg32956=)
c.98864G= (p.Arg32955=)
c.95906G= (p.Arg31969=)
c.77522G= (p.Arg25841=)
c.99017G= (p.Arg33006=)
c.99014G= (p.Arg33005=)
c.98447G= (p.Arg32816=)
c.95789G= (p.Arg31930=)
c.95708G= (p.Arg31903=)
c.77471G= (p.Arg25824=)
c.67325G= (p.Arg22442=)
2g.178532039C>GCA349411374TTN,TTN-AS1c.96872G>C (p.Arg32291Pro)
c.77957G>C (p.Arg25986Pro)
c.77756G>C (p.Arg25919Pro)
c.77381G>C (p.Arg25794Pro)
c.104576G>C (p.Arg34859Pro)
c.99653G>C (p.Arg33218Pro)
n.446+8403C>G
n.220-3693C>G
c.103673G>C (p.Arg34558Pro)
c.77567G>C (p.Arg25856Pro)
c.77426G>C (p.Arg25809Pro)
c.103469G>C (p.Arg34490Pro)
c.98867G>C (p.Arg32956Pro)
c.98864G>C (p.Arg32955Pro)
c.95906G>C (p.Arg31969Pro)
c.77522G>C (p.Arg25841Pro)
c.99017G>C (p.Arg33006Pro)
c.99014G>C (p.Arg33005Pro)
c.98447G>C (p.Arg32816Pro)
c.95789G>C (p.Arg31930Pro)
c.95708G>C (p.Arg31903Pro)
c.77471G>C (p.Arg25824Pro)
c.67325G>C (p.Arg22442Pro)
2g.178532039C>TCA284291TTN,TTN-AS1c.96872G>A (p.Arg32291Gln)
c.77957G>A (p.Arg25986Gln)
c.77756G>A (p.Arg25919Gln)
c.77381G>A (p.Arg25794Gln)
c.104576G>A (p.Arg34859Gln)
c.99653G>A (p.Arg33218Gln)
n.446+8403C>T
n.220-3693C>T
c.103673G>A (p.Arg34558Gln)
c.77567G>A (p.Arg25856Gln)
c.77426G>A (p.Arg25809Gln)
c.103469G>A (p.Arg34490Gln)
c.98867G>A (p.Arg32956Gln)
c.98864G>A (p.Arg32955Gln)
c.95906G>A (p.Arg31969Gln)
c.77522G>A (p.Arg25841Gln)
c.99017G>A (p.Arg33006Gln)
c.99014G>A (p.Arg33005Gln)
c.98447G>A (p.Arg32816Gln)
c.95789G>A (p.Arg31930Gln)
c.95708G>A (p.Arg31903Gln)
c.77471G>A (p.Arg25824Gln)
c.67325G>A (p.Arg22442Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178532040G>ACA60956099TTN,TTN-AS1c.96871C>T (p.Arg32291Trp)
c.77956C>T (p.Arg25986Trp)
c.77755C>T (p.Arg25919Trp)
c.77380C>T (p.Arg25794Trp)
c.104575C>T (p.Arg34859Trp)
c.99652C>T (p.Arg33218Trp)
n.446+8404G>A
n.220-3692G>A
c.103672C>T (p.Arg34558Trp)
c.77566C>T (p.Arg25856Trp)
c.77425C>T (p.Arg25809Trp)
c.103468C>T (p.Arg34490Trp)
c.98866C>T (p.Arg32956Trp)
c.98863C>T (p.Arg32955Trp)
c.95905C>T (p.Arg31969Trp)
c.77521C>T (p.Arg25841Trp)
c.99016C>T (p.Arg33006Trp)
c.99013C>T (p.Arg33005Trp)
c.98446C>T (p.Arg32816Trp)
c.95788C>T (p.Arg31930Trp)
c.95707C>T (p.Arg31903Trp)
c.77470C>T (p.Arg25824Trp)
c.67324C>T (p.Arg22442Trp)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
2g.178532040G>CCA349411375TTN,TTN-AS1c.96871C>G (p.Arg32291Gly)
c.77956C>G (p.Arg25986Gly)
c.77755C>G (p.Arg25919Gly)
c.77380C>G (p.Arg25794Gly)
c.104575C>G (p.Arg34859Gly)
c.99652C>G (p.Arg33218Gly)
n.446+8404G>C
n.220-3692G>C
c.103672C>G (p.Arg34558Gly)
c.77566C>G (p.Arg25856Gly)
c.77425C>G (p.Arg25809Gly)
c.103468C>G (p.Arg34490Gly)
c.98866C>G (p.Arg32956Gly)
c.98863C>G (p.Arg32955Gly)
c.95905C>G (p.Arg31969Gly)
c.77521C>G (p.Arg25841Gly)
c.99016C>G (p.Arg33006Gly)
c.99013C>G (p.Arg33005Gly)
c.98446C>G (p.Arg32816Gly)
c.95788C>G (p.Arg31930Gly)
c.95707C>G (p.Arg31903Gly)
c.77470C>G (p.Arg25824Gly)
c.67324C>G (p.Arg22442Gly)
2g.178532040G=CA1310518041TTN,TTN-AS1c.96871C= (p.Arg32291=)
c.77956C= (p.Arg25986=)
c.77755C= (p.Arg25919=)
c.77380C= (p.Arg25794=)
c.104575C= (p.Arg34859=)
c.99652C= (p.Arg33218=)
n.446+8404G=
n.220-3692G=
c.103672C= (p.Arg34558=)
c.77566C= (p.Arg25856=)
c.77425C= (p.Arg25809=)
c.103468C= (p.Arg34490=)
c.98866C= (p.Arg32956=)
c.98863C= (p.Arg32955=)
c.95905C= (p.Arg31969=)
c.77521C= (p.Arg25841=)
c.99016C= (p.Arg33006=)
c.99013C= (p.Arg33005=)
c.98446C= (p.Arg32816=)
c.95788C= (p.Arg31930=)
c.95707C= (p.Arg31903=)
c.77470C= (p.Arg25824=)
c.67324C= (p.Arg22442=)
2g.178532040G>TCA430235769TTN,TTN-AS1c.96871C>A (p.Arg32291=)
c.77956C>A (p.Arg25986=)
c.77755C>A (p.Arg25919=)
c.77380C>A (p.Arg25794=)
c.104575C>A (p.Arg34859=)
c.99652C>A (p.Arg33218=)
n.446+8404G>T
n.220-3692G>T
c.103672C>A (p.Arg34558=)
c.77566C>A (p.Arg25856=)
c.77425C>A (p.Arg25809=)
c.103468C>A (p.Arg34490=)
c.98866C>A (p.Arg32956=)
c.98863C>A (p.Arg32955=)
c.95905C>A (p.Arg31969=)
c.77521C>A (p.Arg25841=)
c.99016C>A (p.Arg33006=)
c.99013C>A (p.Arg33005=)
c.98446C>A (p.Arg32816=)
c.95788C>A (p.Arg31930=)
c.95707C>A (p.Arg31903=)
c.77470C>A (p.Arg25824=)
c.67324C>A (p.Arg22442=)
 gnomAD v4
2g.178532041G>ACA1985399TTN,TTN-AS1c.96870C>T (p.Ile32290=)
c.77955C>T (p.Ile25985=)
c.77754C>T (p.Ile25918=)
c.77379C>T (p.Ile25793=)
c.104574C>T (p.Ile34858=)
c.99651C>T (p.Ile33217=)
n.446+8405G>A
n.220-3691G>A
c.103671C>T (p.Ile34557=)
c.77565C>T (p.Ile25855=)
c.77424C>T (p.Ile25808=)
c.103467C>T (p.Ile34489=)
c.98865C>T (p.Ile32955=)
c.98862C>T (p.Ile32954=)
c.95904C>T (p.Ile31968=)
c.77520C>T (p.Ile25840=)
c.99015C>T (p.Ile33005=)
c.99012C>T (p.Ile33004=)
c.98445C>T (p.Ile32815=)
c.95787C>T (p.Ile31929=)
c.95706C>T (p.Ile31902=)
c.77469C>T (p.Ile25823=)
c.67323C>T (p.Ile22441=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178532041G>CCA349411376TTN,TTN-AS1c.96870C>G (p.Ile32290Met)
c.77955C>G (p.Ile25985Met)
c.77754C>G (p.Ile25918Met)
c.77379C>G (p.Ile25793Met)
c.104574C>G (p.Ile34858Met)
c.99651C>G (p.Ile33217Met)
n.446+8405G>C
n.220-3691G>C
c.103671C>G (p.Ile34557Met)
c.77565C>G (p.Ile25855Met)
c.77424C>G (p.Ile25808Met)
c.103467C>G (p.Ile34489Met)
c.98865C>G (p.Ile32955Met)
c.98862C>G (p.Ile32954Met)
c.95904C>G (p.Ile31968Met)
c.77520C>G (p.Ile25840Met)
c.99015C>G (p.Ile33005Met)
c.99012C>G (p.Ile33004Met)
c.98445C>G (p.Ile32815Met)
c.95787C>G (p.Ile31929Met)
c.95706C>G (p.Ile31902Met)
c.77469C>G (p.Ile25823Met)
c.67323C>G (p.Ile22441Met)
2g.178532041G=CA1310518042TTN,TTN-AS1c.96870C= (p.Ile32290=)
c.77955C= (p.Ile25985=)
c.77754C= (p.Ile25918=)
c.77379C= (p.Ile25793=)
c.104574C= (p.Ile34858=)
c.99651C= (p.Ile33217=)
n.446+8405G=
n.220-3691G=
c.103671C= (p.Ile34557=)
c.77565C= (p.Ile25855=)
c.77424C= (p.Ile25808=)
c.103467C= (p.Ile34489=)
c.98865C= (p.Ile32955=)
c.98862C= (p.Ile32954=)
c.95904C= (p.Ile31968=)
c.77520C= (p.Ile25840=)
c.99015C= (p.Ile33005=)
c.99012C= (p.Ile33004=)
c.98445C= (p.Ile32815=)
c.95787C= (p.Ile31929=)
c.95706C= (p.Ile31902=)
c.77469C= (p.Ile25823=)
c.67323C= (p.Ile22441=)
2g.178532041G>TCA430235771TTN,TTN-AS1c.96870C>A (p.Ile32290=)
c.77955C>A (p.Ile25985=)
c.77754C>A (p.Ile25918=)
c.77379C>A (p.Ile25793=)
c.104574C>A (p.Ile34858=)
c.99651C>A (p.Ile33217=)
n.446+8405G>T
n.220-3691G>T
c.103671C>A (p.Ile34557=)
c.77565C>A (p.Ile25855=)
c.77424C>A (p.Ile25808=)
c.103467C>A (p.Ile34489=)
c.98865C>A (p.Ile32955=)
c.98862C>A (p.Ile32954=)
c.95904C>A (p.Ile31968=)
c.77520C>A (p.Ile25840=)
c.99015C>A (p.Ile33005=)
c.99012C>A (p.Ile33004=)
c.98445C>A (p.Ile32815=)
c.95787C>A (p.Ile31929=)
c.95706C>A (p.Ile31902=)
c.77469C>A (p.Ile25823=)
c.67323C>A (p.Ile22441=)
2g.178532041_178532042delinsGACA1310518043TTN,TTN-AS1c.96869_96870delinsTC (p.Ile32290=)
c.77954_77955delinsTC (p.Ile25985=)
c.77753_77754delinsTC (p.Ile25918=)
c.77378_77379delinsTC (p.Ile25793=)
c.104573_104574delinsTC (p.Ile34858=)
c.99650_99651delinsTC (p.Ile33217=)
n.446+8405_446+8406delinsGA
n.220-3691_220-3690delinsGA
c.103670_103671delinsTC (p.Ile34557=)
c.77564_77565delinsTC (p.Ile25855=)
c.77423_77424delinsTC (p.Ile25808=)
c.103466_103467delinsTC (p.Ile34489=)
c.98864_98865delinsTC (p.Ile32955=)
c.98861_98862delinsTC (p.Ile32954=)
c.95903_95904delinsTC (p.Ile31968=)
c.77519_77520delinsTC (p.Ile25840=)
c.99014_99015delinsTC (p.Ile33005=)
c.99011_99012delinsTC (p.Ile33004=)
c.98444_98445delinsTC (p.Ile32815=)
c.95786_95787delinsTC (p.Ile31929=)
c.95705_95706delinsTC (p.Ile31902=)
c.77468_77469delinsTC (p.Ile25823=)
c.67322_67323delinsTC (p.Ile22441=)
2g.178532042delCA1310518044TTN,TTN-AS1c.96869del (p.Ile32290ThrfsTer?)
c.77954del (p.Ile25985ThrfsTer?)
c.77753del (p.Ile25918ThrfsTer?)
c.77378del (p.Ile25793ThrfsTer?)
c.104573del (p.Ile34858ThrfsTer?)
c.99650del (p.Ile33217ThrfsTer?)
n.446+8406del
n.220-3690del
c.103670del (p.Ile34557ThrfsTer?)
c.77564del (p.Ile25855ThrfsTer?)
c.77423del (p.Ile25808ThrfsTer?)
c.103466del (p.Ile34489ThrfsTer?)
c.98864del (p.Ile32955ThrfsTer?)
c.98861del (p.Ile32954ThrfsTer?)
c.95903del (p.Ile31968ThrfsTer?)
c.77519del (p.Ile25840ThrfsTer?)
c.99014del (p.Ile33005ThrfsTer?)
c.99011del (p.Ile33004ThrfsTer?)
c.98444del (p.Ile32815ThrfsTer?)
c.95786del (p.Ile31929ThrfsTer?)
c.95705del (p.Ile31902ThrfsTer?)
c.77468del (p.Ile25823ThrfsTer?)
c.67322del (p.Ile22441ThrfsTer?)
 ClinVar dbSNP
2g.178532042A=CA1310518045TTN,TTN-AS1c.96869T= (p.Ile32290=)
c.77954T= (p.Ile25985=)
c.77753T= (p.Ile25918=)
c.77378T= (p.Ile25793=)
c.104573T= (p.Ile34858=)
c.99650T= (p.Ile33217=)
n.446+8406A=
n.220-3690A=
c.103670T= (p.Ile34557=)
c.77564T= (p.Ile25855=)
c.77423T= (p.Ile25808=)
c.103466T= (p.Ile34489=)
c.98864T= (p.Ile32955=)
c.98861T= (p.Ile32954=)
c.95903T= (p.Ile31968=)
c.77519T= (p.Ile25840=)
c.99014T= (p.Ile33005=)
c.99011T= (p.Ile33004=)
c.98444T= (p.Ile32815=)
c.95786T= (p.Ile31929=)
c.95705T= (p.Ile31902=)
c.77468T= (p.Ile25823=)
c.67322T= (p.Ile22441=)
2g.178532042A>CCA349411378TTN,TTN-AS1c.96869T>G (p.Ile32290Ser)
c.77954T>G (p.Ile25985Ser)
c.77753T>G (p.Ile25918Ser)
c.77378T>G (p.Ile25793Ser)
c.104573T>G (p.Ile34858Ser)
c.99650T>G (p.Ile33217Ser)
n.446+8406A>C
n.220-3690A>C
c.103670T>G (p.Ile34557Ser)
c.77564T>G (p.Ile25855Ser)
c.77423T>G (p.Ile25808Ser)
c.103466T>G (p.Ile34489Ser)
c.98864T>G (p.Ile32955Ser)
c.98861T>G (p.Ile32954Ser)
c.95903T>G (p.Ile31968Ser)
c.77519T>G (p.Ile25840Ser)
c.99014T>G (p.Ile33005Ser)
c.99011T>G (p.Ile33004Ser)
c.98444T>G (p.Ile32815Ser)
c.95786T>G (p.Ile31929Ser)
c.95705T>G (p.Ile31902Ser)
c.77468T>G (p.Ile25823Ser)
c.67322T>G (p.Ile22441Ser)
 gnomAD v4
2g.178532042A>GCA349411377TTN,TTN-AS1c.96869T>C (p.Ile32290Thr)
c.77954T>C (p.Ile25985Thr)
c.77753T>C (p.Ile25918Thr)
c.77378T>C (p.Ile25793Thr)
c.104573T>C (p.Ile34858Thr)
c.99650T>C (p.Ile33217Thr)
n.446+8406A>G
n.220-3690A>G
c.103670T>C (p.Ile34557Thr)
c.77564T>C (p.Ile25855Thr)
c.77423T>C (p.Ile25808Thr)
c.103466T>C (p.Ile34489Thr)
c.98864T>C (p.Ile32955Thr)
c.98861T>C (p.Ile32954Thr)
c.95903T>C (p.Ile31968Thr)
c.77519T>C (p.Ile25840Thr)
c.99014T>C (p.Ile33005Thr)
c.99011T>C (p.Ile33004Thr)
c.98444T>C (p.Ile32815Thr)
c.95786T>C (p.Ile31929Thr)
c.95705T>C (p.Ile31902Thr)
c.77468T>C (p.Ile25823Thr)
c.67322T>C (p.Ile22441Thr)
2g.178532042A>TCA1985400TTN,TTN-AS1c.96869T>A (p.Ile32290Asn)
c.77954T>A (p.Ile25985Asn)
c.77753T>A (p.Ile25918Asn)
c.77378T>A (p.Ile25793Asn)
c.104573T>A (p.Ile34858Asn)
c.99650T>A (p.Ile33217Asn)
n.446+8406A>T
n.220-3690A>T
c.103670T>A (p.Ile34557Asn)
c.77564T>A (p.Ile25855Asn)
c.77423T>A (p.Ile25808Asn)
c.103466T>A (p.Ile34489Asn)
c.98864T>A (p.Ile32955Asn)
c.98861T>A (p.Ile32954Asn)
c.95903T>A (p.Ile31968Asn)
c.77519T>A (p.Ile25840Asn)
c.99014T>A (p.Ile33005Asn)
c.99011T>A (p.Ile33004Asn)
c.98444T>A (p.Ile32815Asn)
c.95786T>A (p.Ile31929Asn)
c.95705T>A (p.Ile31902Asn)
c.77468T>A (p.Ile25823Asn)
c.67322T>A (p.Ile22441Asn)
 ClinVar dbSNP ExAC gnomAD v3 gnomAD v4
2g.178532043T>ACA349411379TTN,TTN-AS1c.96868A>T (p.Ile32290Phe)
c.77953A>T (p.Ile25985Phe)
c.77752A>T (p.Ile25918Phe)
c.77377A>T (p.Ile25793Phe)
c.104572A>T (p.Ile34858Phe)
c.99649A>T (p.Ile33217Phe)
n.446+8407T>A
n.220-3689T>A
c.103669A>T (p.Ile34557Phe)
c.77563A>T (p.Ile25855Phe)
c.77422A>T (p.Ile25808Phe)
c.103465A>T (p.Ile34489Phe)
c.98863A>T (p.Ile32955Phe)
c.98860A>T (p.Ile32954Phe)
c.95902A>T (p.Ile31968Phe)
c.77518A>T (p.Ile25840Phe)
c.99013A>T (p.Ile33005Phe)
c.99010A>T (p.Ile33004Phe)
c.98443A>T (p.Ile32815Phe)
c.95785A>T (p.Ile31929Phe)
c.95704A>T (p.Ile31902Phe)
c.77467A>T (p.Ile25823Phe)
c.67321A>T (p.Ile22441Phe)
2g.178532043T>CCA349411380TTN,TTN-AS1c.96868A>G (p.Ile32290Val)
c.77953A>G (p.Ile25985Val)
c.77752A>G (p.Ile25918Val)
c.77377A>G (p.Ile25793Val)
c.104572A>G (p.Ile34858Val)
c.99649A>G (p.Ile33217Val)
n.446+8407T>C
n.220-3689T>C
c.103669A>G (p.Ile34557Val)
c.77563A>G (p.Ile25855Val)
c.77422A>G (p.Ile25808Val)
c.103465A>G (p.Ile34489Val)
c.98863A>G (p.Ile32955Val)
c.98860A>G (p.Ile32954Val)
c.95902A>G (p.Ile31968Val)
c.77518A>G (p.Ile25840Val)
c.99013A>G (p.Ile33005Val)
c.99010A>G (p.Ile33004Val)
c.98443A>G (p.Ile32815Val)
c.95785A>G (p.Ile31929Val)
c.95704A>G (p.Ile31902Val)
c.77467A>G (p.Ile25823Val)
c.67321A>G (p.Ile22441Val)
2g.178532043T>GCA349411381TTN,TTN-AS1c.96868A>C (p.Ile32290Leu)
c.77953A>C (p.Ile25985Leu)
c.77752A>C (p.Ile25918Leu)
c.77377A>C (p.Ile25793Leu)
c.104572A>C (p.Ile34858Leu)
c.99649A>C (p.Ile33217Leu)
n.446+8407T>G
n.220-3689T>G
c.103669A>C (p.Ile34557Leu)
c.77563A>C (p.Ile25855Leu)
c.77422A>C (p.Ile25808Leu)
c.103465A>C (p.Ile34489Leu)
c.98863A>C (p.Ile32955Leu)
c.98860A>C (p.Ile32954Leu)
c.95902A>C (p.Ile31968Leu)
c.77518A>C (p.Ile25840Leu)
c.99013A>C (p.Ile33005Leu)
c.99010A>C (p.Ile33004Leu)
c.98443A>C (p.Ile32815Leu)
c.95785A>C (p.Ile31929Leu)
c.95704A>C (p.Ile31902Leu)
c.77467A>C (p.Ile25823Leu)
c.67321A>C (p.Ile22441Leu)
2g.178532044C>ACA430235774TTN,TTN-AS1c.96867G>T (p.Leu32289=)
c.77952G>T (p.Leu25984=)
c.77751G>T (p.Leu25917=)
c.77376G>T (p.Leu25792=)
c.104571G>T (p.Leu34857=)
c.99648G>T (p.Leu33216=)
n.446+8408C>A
n.220-3688C>A
c.103668G>T (p.Leu34556=)
c.77562G>T (p.Leu25854=)
c.77421G>T (p.Leu25807=)
c.103464G>T (p.Leu34488=)
c.98862G>T (p.Leu32954=)
c.98859G>T (p.Leu32953=)
c.95901G>T (p.Leu31967=)
c.77517G>T (p.Leu25839=)
c.99012G>T (p.Leu33004=)
c.99009G>T (p.Leu33003=)
c.98442G>T (p.Leu32814=)
c.95784G>T (p.Leu31928=)
c.95703G>T (p.Leu31901=)
c.77466G>T (p.Leu25822=)
c.67320G>T (p.Leu22440=)
2g.178532044C>GCA430235776TTN,TTN-AS1c.96867G>C (p.Leu32289=)
c.77952G>C (p.Leu25984=)
c.77751G>C (p.Leu25917=)
c.77376G>C (p.Leu25792=)
c.104571G>C (p.Leu34857=)
c.99648G>C (p.Leu33216=)
n.446+8408C>G
n.220-3688C>G
c.103668G>C (p.Leu34556=)
c.77562G>C (p.Leu25854=)
c.77421G>C (p.Leu25807=)
c.103464G>C (p.Leu34488=)
c.98862G>C (p.Leu32954=)
c.98859G>C (p.Leu32953=)
c.95901G>C (p.Leu31967=)
c.77517G>C (p.Leu25839=)
c.99012G>C (p.Leu33004=)
c.99009G>C (p.Leu33003=)
c.98442G>C (p.Leu32814=)
c.95784G>C (p.Leu31928=)
c.95703G>C (p.Leu31901=)
c.77466G>C (p.Leu25822=)
c.67320G>C (p.Leu22440=)
2g.178532044C>TCA430235775TTN,TTN-AS1c.96867G>A (p.Leu32289=)
c.77952G>A (p.Leu25984=)
c.77751G>A (p.Leu25917=)
c.77376G>A (p.Leu25792=)
c.104571G>A (p.Leu34857=)
c.99648G>A (p.Leu33216=)
n.446+8408C>T
n.220-3688C>T
c.103668G>A (p.Leu34556=)
c.77562G>A (p.Leu25854=)
c.77421G>A (p.Leu25807=)
c.103464G>A (p.Leu34488=)
c.98862G>A (p.Leu32954=)
c.98859G>A (p.Leu32953=)
c.95901G>A (p.Leu31967=)
c.77517G>A (p.Leu25839=)
c.99012G>A (p.Leu33004=)
c.99009G>A (p.Leu33003=)
c.98442G>A (p.Leu32814=)
c.95784G>A (p.Leu31928=)
c.95703G>A (p.Leu31901=)
c.77466G>A (p.Leu25822=)
c.67320G>A (p.Leu22440=)
2g.178532045A=CA1310518046TTN,TTN-AS1c.96866T= (p.Leu32289=)
c.77951T= (p.Leu25984=)
c.77750T= (p.Leu25917=)
c.77375T= (p.Leu25792=)
c.104570T= (p.Leu34857=)
c.99647T= (p.Leu33216=)
n.446+8409A=
n.220-3687A=
c.103667T= (p.Leu34556=)
c.77561T= (p.Leu25854=)
c.77420T= (p.Leu25807=)
c.103463T= (p.Leu34488=)
c.98861T= (p.Leu32954=)
c.98858T= (p.Leu32953=)
c.95900T= (p.Leu31967=)
c.77516T= (p.Leu25839=)
c.99011T= (p.Leu33004=)
c.99008T= (p.Leu33003=)
c.98441T= (p.Leu32814=)
c.95783T= (p.Leu31928=)
c.95702T= (p.Leu31901=)
c.77465T= (p.Leu25822=)
c.67319T= (p.Leu22440=)
2g.178532045A>CCA349411382TTN,TTN-AS1c.96866T>G (p.Leu32289Arg)
c.77951T>G (p.Leu25984Arg)
c.77750T>G (p.Leu25917Arg)
c.77375T>G (p.Leu25792Arg)
c.104570T>G (p.Leu34857Arg)
c.99647T>G (p.Leu33216Arg)
n.446+8409A>C
n.220-3687A>C
c.103667T>G (p.Leu34556Arg)
c.77561T>G (p.Leu25854Arg)
c.77420T>G (p.Leu25807Arg)
c.103463T>G (p.Leu34488Arg)
c.98861T>G (p.Leu32954Arg)
c.98858T>G (p.Leu32953Arg)
c.95900T>G (p.Leu31967Arg)
c.77516T>G (p.Leu25839Arg)
c.99011T>G (p.Leu33004Arg)
c.99008T>G (p.Leu33003Arg)
c.98441T>G (p.Leu32814Arg)
c.95783T>G (p.Leu31928Arg)
c.95702T>G (p.Leu31901Arg)
c.77465T>G (p.Leu25822Arg)
c.67319T>G (p.Leu22440Arg)
2g.178532045A>GCA1985401TTN,TTN-AS1c.96866T>C (p.Leu32289Pro)
c.77951T>C (p.Leu25984Pro)
c.77750T>C (p.Leu25917Pro)
c.77375T>C (p.Leu25792Pro)
c.104570T>C (p.Leu34857Pro)
c.99647T>C (p.Leu33216Pro)
n.446+8409A>G
n.220-3687A>G
c.103667T>C (p.Leu34556Pro)
c.77561T>C (p.Leu25854Pro)
c.77420T>C (p.Leu25807Pro)
c.103463T>C (p.Leu34488Pro)
c.98861T>C (p.Leu32954Pro)
c.98858T>C (p.Leu32953Pro)
c.95900T>C (p.Leu31967Pro)
c.77516T>C (p.Leu25839Pro)
c.99011T>C (p.Leu33004Pro)
c.99008T>C (p.Leu33003Pro)
c.98441T>C (p.Leu32814Pro)
c.95783T>C (p.Leu31928Pro)
c.95702T>C (p.Leu31901Pro)
c.77465T>C (p.Leu25822Pro)
c.67319T>C (p.Leu22440Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178532045A>TCA349411383TTN,TTN-AS1c.96866T>A (p.Leu32289Gln)
c.77951T>A (p.Leu25984Gln)
c.77750T>A (p.Leu25917Gln)
c.77375T>A (p.Leu25792Gln)
c.104570T>A (p.Leu34857Gln)
c.99647T>A (p.Leu33216Gln)
n.446+8409A>T
n.220-3687A>T
c.103667T>A (p.Leu34556Gln)
c.77561T>A (p.Leu25854Gln)
c.77420T>A (p.Leu25807Gln)
c.103463T>A (p.Leu34488Gln)
c.98861T>A (p.Leu32954Gln)
c.98858T>A (p.Leu32953Gln)
c.95900T>A (p.Leu31967Gln)
c.77516T>A (p.Leu25839Gln)
c.99011T>A (p.Leu33004Gln)
c.99008T>A (p.Leu33003Gln)
c.98441T>A (p.Leu32814Gln)
c.95783T>A (p.Leu31928Gln)
c.95702T>A (p.Leu31901Gln)
c.77465T>A (p.Leu25822Gln)
c.67319T>A (p.Leu22440Gln)
2g.178532046G>ACA430235778TTN,TTN-AS1c.96865C>T (p.Leu32289=)
c.77950C>T (p.Leu25984=)
c.77749C>T (p.Leu25917=)
c.77374C>T (p.Leu25792=)
c.104569C>T (p.Leu34857=)
c.99646C>T (p.Leu33216=)
n.446+8410G>A
n.220-3686G>A
c.103666C>T (p.Leu34556=)
c.77560C>T (p.Leu25854=)
c.77419C>T (p.Leu25807=)
c.103462C>T (p.Leu34488=)
c.98860C>T (p.Leu32954=)
c.98857C>T (p.Leu32953=)
c.95899C>T (p.Leu31967=)
c.77515C>T (p.Leu25839=)
c.99010C>T (p.Leu33004=)
c.99007C>T (p.Leu33003=)
c.98440C>T (p.Leu32814=)
c.95782C>T (p.Leu31928=)
c.95701C>T (p.Leu31901=)
c.77464C>T (p.Leu25822=)
c.67318C>T (p.Leu22440=)
 ClinVar
2g.178532046G>CCA349411384TTN,TTN-AS1c.96865C>G (p.Leu32289Val)
c.77950C>G (p.Leu25984Val)
c.77749C>G (p.Leu25917Val)
c.77374C>G (p.Leu25792Val)
c.104569C>G (p.Leu34857Val)
c.99646C>G (p.Leu33216Val)
n.446+8410G>C
n.220-3686G>C
c.103666C>G (p.Leu34556Val)
c.77560C>G (p.Leu25854Val)
c.77419C>G (p.Leu25807Val)
c.103462C>G (p.Leu34488Val)
c.98860C>G (p.Leu32954Val)
c.98857C>G (p.Leu32953Val)
c.95899C>G (p.Leu31967Val)
c.77515C>G (p.Leu25839Val)
c.99010C>G (p.Leu33004Val)
c.99007C>G (p.Leu33003Val)
c.98440C>G (p.Leu32814Val)
c.95782C>G (p.Leu31928Val)
c.95701C>G (p.Leu31901Val)
c.77464C>G (p.Leu25822Val)
c.67318C>G (p.Leu22440Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.178532046G=CA1310518047TTN,TTN-AS1c.96865C= (p.Leu32289=)
c.77950C= (p.Leu25984=)
c.77749C= (p.Leu25917=)
c.77374C= (p.Leu25792=)
c.104569C= (p.Leu34857=)
c.99646C= (p.Leu33216=)
n.446+8410G=
n.220-3686G=
c.103666C= (p.Leu34556=)
c.77560C= (p.Leu25854=)
c.77419C= (p.Leu25807=)
c.103462C= (p.Leu34488=)
c.98860C= (p.Leu32954=)
c.98857C= (p.Leu32953=)
c.95899C= (p.Leu31967=)
c.77515C= (p.Leu25839=)
c.99010C= (p.Leu33004=)
c.99007C= (p.Leu33003=)
c.98440C= (p.Leu32814=)
c.95782C= (p.Leu31928=)
c.95701C= (p.Leu31901=)
c.77464C= (p.Leu25822=)
c.67318C= (p.Leu22440=)
2g.178532046G>TCA349411385TTN,TTN-AS1c.96865C>A (p.Leu32289Met)
c.77950C>A (p.Leu25984Met)
c.77749C>A (p.Leu25917Met)
c.77374C>A (p.Leu25792Met)
c.104569C>A (p.Leu34857Met)
c.99646C>A (p.Leu33216Met)
n.446+8410G>T
n.220-3686G>T
c.103666C>A (p.Leu34556Met)
c.77560C>A (p.Leu25854Met)
c.77419C>A (p.Leu25807Met)
c.103462C>A (p.Leu34488Met)
c.98860C>A (p.Leu32954Met)
c.98857C>A (p.Leu32953Met)
c.95899C>A (p.Leu31967Met)
c.77515C>A (p.Leu25839Met)
c.99010C>A (p.Leu33004Met)
c.99007C>A (p.Leu33003Met)
c.98440C>A (p.Leu32814Met)
c.95782C>A (p.Leu31928Met)
c.95701C>A (p.Leu31901Met)
c.77464C>A (p.Leu25822Met)
c.67318C>A (p.Leu22440Met)
2g.178532046_178532047insGAATACA2753330563TTN,TTN-AS1c.96864_96865insTATTC (p.Leu32289TyrfsTer3)
c.77949_77950insTATTC (p.Leu25984TyrfsTer3)
c.77748_77749insTATTC (p.Leu25917TyrfsTer3)
c.77373_77374insTATTC (p.Leu25792TyrfsTer3)
c.104568_104569insTATTC (p.Leu34857TyrfsTer3)
c.99645_99646insTATTC (p.Leu33216TyrfsTer3)
n.446+8410_446+8411insGAATA
n.220-3686_220-3685insGAATA
c.103665_103666insTATTC (p.Leu34556TyrfsTer3)
c.77559_77560insTATTC (p.Leu25854TyrfsTer3)
c.77418_77419insTATTC (p.Leu25807TyrfsTer3)
c.103461_103462insTATTC (p.Leu34488TyrfsTer3)
c.98859_98860insTATTC (p.Leu32954TyrfsTer3)
c.98856_98857insTATTC (p.Leu32953TyrfsTer3)
c.95898_95899insTATTC (p.Leu31967TyrfsTer3)
c.77514_77515insTATTC (p.Leu25839TyrfsTer3)
c.99009_99010insTATTC (p.Leu33004TyrfsTer3)
c.99006_99007insTATTC (p.Leu33003TyrfsTer3)
c.98439_98440insTATTC (p.Leu32814TyrfsTer3)
c.95781_95782insTATTC (p.Leu31928TyrfsTer3)
c.95700_95701insTATTC (p.Leu31901TyrfsTer3)
c.77463_77464insTATTC (p.Leu25822TyrfsTer3)
c.67317_67318insTATTC (p.Leu22440TyrfsTer3)
2g.178532047C>ACA349411386TTN,TTN-AS1c.96864G>T (p.Glu32288Asp)
c.77949G>T (p.Glu25983Asp)
c.77748G>T (p.Glu25916Asp)
c.77373G>T (p.Glu25791Asp)
c.104568G>T (p.Glu34856Asp)
c.99645G>T (p.Glu33215Asp)
n.446+8411C>A
n.220-3685C>A
c.103665G>T (p.Glu34555Asp)
c.77559G>T (p.Glu25853Asp)
c.77418G>T (p.Glu25806Asp)
c.103461G>T (p.Glu34487Asp)
c.98859G>T (p.Glu32953Asp)
c.98856G>T (p.Glu32952Asp)
c.95898G>T (p.Glu31966Asp)
c.77514G>T (p.Glu25838Asp)
c.99009G>T (p.Glu33003Asp)
c.99006G>T (p.Glu33002Asp)
c.98439G>T (p.Glu32813Asp)
c.95781G>T (p.Glu31927Asp)
c.95700G>T (p.Glu31900Asp)
c.77463G>T (p.Glu25821Asp)
c.67317G>T (p.Glu22439Asp)
2g.178532047C>GCA349411387TTN,TTN-AS1c.96864G>C (p.Glu32288Asp)
c.77949G>C (p.Glu25983Asp)
c.77748G>C (p.Glu25916Asp)
c.77373G>C (p.Glu25791Asp)
c.104568G>C (p.Glu34856Asp)
c.99645G>C (p.Glu33215Asp)
n.446+8411C>G
n.220-3685C>G
c.103665G>C (p.Glu34555Asp)
c.77559G>C (p.Glu25853Asp)
c.77418G>C (p.Glu25806Asp)
c.103461G>C (p.Glu34487Asp)
c.98859G>C (p.Glu32953Asp)
c.98856G>C (p.Glu32952Asp)
c.95898G>C (p.Glu31966Asp)
c.77514G>C (p.Glu25838Asp)
c.99009G>C (p.Glu33003Asp)
c.99006G>C (p.Glu33002Asp)
c.98439G>C (p.Glu32813Asp)
c.95781G>C (p.Glu31927Asp)
c.95700G>C (p.Glu31900Asp)
c.77463G>C (p.Glu25821Asp)
c.67317G>C (p.Glu22439Asp)
2g.178532047C>TCA430235782TTN,TTN-AS1c.96864G>A (p.Glu32288=)
c.77949G>A (p.Glu25983=)
c.77748G>A (p.Glu25916=)
c.77373G>A (p.Glu25791=)
c.104568G>A (p.Glu34856=)
c.99645G>A (p.Glu33215=)
n.446+8411C>T
n.220-3685C>T
c.103665G>A (p.Glu34555=)
c.77559G>A (p.Glu25853=)
c.77418G>A (p.Glu25806=)
c.103461G>A (p.Glu34487=)
c.98859G>A (p.Glu32953=)
c.98856G>A (p.Glu32952=)
c.95898G>A (p.Glu31966=)
c.77514G>A (p.Glu25838=)
c.99009G>A (p.Glu33003=)
c.99006G>A (p.Glu33002=)
c.98439G>A (p.Glu32813=)
c.95781G>A (p.Glu31927=)
c.95700G>A (p.Glu31900=)
c.77463G>A (p.Glu25821=)
c.67317G>A (p.Glu22439=)
2g.178532048T>ACA349411388TTN,TTN-AS1c.96863A>T (p.Glu32288Val)
c.77948A>T (p.Glu25983Val)
c.77747A>T (p.Glu25916Val)
c.77372A>T (p.Glu25791Val)
c.104567A>T (p.Glu34856Val)
c.99644A>T (p.Glu33215Val)
n.446+8412T>A
n.220-3684T>A
c.103664A>T (p.Glu34555Val)
c.77558A>T (p.Glu25853Val)
c.77417A>T (p.Glu25806Val)
c.103460A>T (p.Glu34487Val)
c.98858A>T (p.Glu32953Val)
c.98855A>T (p.Glu32952Val)
c.95897A>T (p.Glu31966Val)
c.77513A>T (p.Glu25838Val)
c.99008A>T (p.Glu33003Val)
c.99005A>T (p.Glu33002Val)
c.98438A>T (p.Glu32813Val)
c.95780A>T (p.Glu31927Val)
c.95699A>T (p.Glu31900Val)
c.77462A>T (p.Glu25821Val)
c.67316A>T (p.Glu22439Val)
2g.178532048T>CCA349411389TTN,TTN-AS1c.96863A>G (p.Glu32288Gly)
c.77948A>G (p.Glu25983Gly)
c.77747A>G (p.Glu25916Gly)
c.77372A>G (p.Glu25791Gly)
c.104567A>G (p.Glu34856Gly)
c.99644A>G (p.Glu33215Gly)
n.446+8412T>C
n.220-3684T>C
c.103664A>G (p.Glu34555Gly)
c.77558A>G (p.Glu25853Gly)
c.77417A>G (p.Glu25806Gly)
c.103460A>G (p.Glu34487Gly)
c.98858A>G (p.Glu32953Gly)
c.98855A>G (p.Glu32952Gly)
c.95897A>G (p.Glu31966Gly)
c.77513A>G (p.Glu25838Gly)
c.99008A>G (p.Glu33003Gly)
c.99005A>G (p.Glu33002Gly)
c.98438A>G (p.Glu32813Gly)
c.95780A>G (p.Glu31927Gly)
c.95699A>G (p.Glu31900Gly)
c.77462A>G (p.Glu25821Gly)
c.67316A>G (p.Glu22439Gly)
2g.178532048T>GCA349411390TTN,TTN-AS1c.96863A>C (p.Glu32288Ala)
c.77948A>C (p.Glu25983Ala)
c.77747A>C (p.Glu25916Ala)
c.77372A>C (p.Glu25791Ala)
c.104567A>C (p.Glu34856Ala)
c.99644A>C (p.Glu33215Ala)
n.446+8412T>G
n.220-3684T>G
c.103664A>C (p.Glu34555Ala)
c.77558A>C (p.Glu25853Ala)
c.77417A>C (p.Glu25806Ala)
c.103460A>C (p.Glu34487Ala)
c.98858A>C (p.Glu32953Ala)
c.98855A>C (p.Glu32952Ala)
c.95897A>C (p.Glu31966Ala)
c.77513A>C (p.Glu25838Ala)
c.99008A>C (p.Glu33003Ala)
c.99005A>C (p.Glu33002Ala)
c.98438A>C (p.Glu32813Ala)
c.95780A>C (p.Glu31927Ala)
c.95699A>C (p.Glu31900Ala)
c.77462A>C (p.Glu25821Ala)
c.67316A>C (p.Glu22439Ala)
2g.178532049C>ACA349411393TTN,TTN-AS1c.96862G>T (p.Glu32288Ter)
c.77947G>T (p.Glu25983Ter)
c.77746G>T (p.Glu25916Ter)
c.77371G>T (p.Glu25791Ter)
c.104566G>T (p.Glu34856Ter)
c.99643G>T (p.Glu33215Ter)
n.446+8413C>A
n.220-3683C>A
c.103663G>T (p.Glu34555Ter)
c.77557G>T (p.Glu25853Ter)
c.77416G>T (p.Glu25806Ter)
c.103459G>T (p.Glu34487Ter)
c.98857G>T (p.Glu32953Ter)
c.98854G>T (p.Glu32952Ter)
c.95896G>T (p.Glu31966Ter)
c.77512G>T (p.Glu25838Ter)
c.99007G>T (p.Glu33003Ter)
c.99004G>T (p.Glu33002Ter)
c.98437G>T (p.Glu32813Ter)
c.95779G>T (p.Glu31927Ter)
c.95698G>T (p.Glu31900Ter)
c.77461G>T (p.Glu25821Ter)
c.67315G>T (p.Glu22439Ter)
2g.178532049C=CA1310518048TTN,TTN-AS1c.96862G= (p.Glu32288=)
c.77947G= (p.Glu25983=)
c.77746G= (p.Glu25916=)
c.77371G= (p.Glu25791=)
c.104566G= (p.Glu34856=)
c.99643G= (p.Glu33215=)
n.446+8413C=
n.220-3683C=
c.103663G= (p.Glu34555=)
c.77557G= (p.Glu25853=)
c.77416G= (p.Glu25806=)
c.103459G= (p.Glu34487=)
c.98857G= (p.Glu32953=)
c.98854G= (p.Glu32952=)
c.95896G= (p.Glu31966=)
c.77512G= (p.Glu25838=)
c.99007G= (p.Glu33003=)
c.99004G= (p.Glu33002=)
c.98437G= (p.Glu32813=)
c.95779G= (p.Glu31927=)
c.95698G= (p.Glu31900=)
c.77461G= (p.Glu25821=)
c.67315G= (p.Glu22439=)
2g.178532049C>GCA349411391TTN,TTN-AS1c.96862G>C (p.Glu32288Gln)
c.77947G>C (p.Glu25983Gln)
c.77746G>C (p.Glu25916Gln)
c.77371G>C (p.Glu25791Gln)
c.104566G>C (p.Glu34856Gln)
c.99643G>C (p.Glu33215Gln)
n.446+8413C>G
n.220-3683C>G
c.103663G>C (p.Glu34555Gln)
c.77557G>C (p.Glu25853Gln)
c.77416G>C (p.Glu25806Gln)
c.103459G>C (p.Glu34487Gln)
c.98857G>C (p.Glu32953Gln)
c.98854G>C (p.Glu32952Gln)
c.95896G>C (p.Glu31966Gln)
c.77512G>C (p.Glu25838Gln)
c.99007G>C (p.Glu33003Gln)
c.99004G>C (p.Glu33002Gln)
c.98437G>C (p.Glu32813Gln)
c.95779G>C (p.Glu31927Gln)
c.95698G>C (p.Glu31900Gln)
c.77461G>C (p.Glu25821Gln)
c.67315G>C (p.Glu22439Gln)
2g.178532049C>TCA349411392TTN,TTN-AS1c.96862G>A (p.Glu32288Lys)
c.77947G>A (p.Glu25983Lys)
c.77746G>A (p.Glu25916Lys)
c.77371G>A (p.Glu25791Lys)
c.104566G>A (p.Glu34856Lys)
c.99643G>A (p.Glu33215Lys)
n.446+8413C>T
n.220-3683C>T
c.103663G>A (p.Glu34555Lys)
c.77557G>A (p.Glu25853Lys)
c.77416G>A (p.Glu25806Lys)
c.103459G>A (p.Glu34487Lys)
c.98857G>A (p.Glu32953Lys)
c.98854G>A (p.Glu32952Lys)
c.95896G>A (p.Glu31966Lys)
c.77512G>A (p.Glu25838Lys)
c.99007G>A (p.Glu33003Lys)
c.99004G>A (p.Glu33002Lys)
c.98437G>A (p.Glu32813Lys)
c.95779G>A (p.Glu31927Lys)
c.95698G>A (p.Glu31900Lys)
c.77461G>A (p.Glu25821Lys)
c.67315G>A (p.Glu22439Lys)
 dbSNP
2g.178532050A=CA1310518049TTN,TTN-AS1c.96861T= (p.Ser32287=)
c.77946T= (p.Ser25982=)
c.77745T= (p.Ser25915=)
c.77370T= (p.Ser25790=)
c.104565T= (p.Ser34855=)
c.99642T= (p.Ser33214=)
n.446+8414A=
n.220-3682A=
c.103662T= (p.Ser34554=)
c.77556T= (p.Ser25852=)
c.77415T= (p.Ser25805=)
c.103458T= (p.Ser34486=)
c.98856T= (p.Ser32952=)
c.98853T= (p.Ser32951=)
c.95895T= (p.Ser31965=)
c.77511T= (p.Ser25837=)
c.99006T= (p.Ser33002=)
c.99003T= (p.Ser33001=)
c.98436T= (p.Ser32812=)
c.95778T= (p.Ser31926=)
c.95697T= (p.Ser31899=)
c.77460T= (p.Ser25820=)
c.67314T= (p.Ser22438=)
2g.178532050A>CCA430235783TTN,TTN-AS1c.96861T>G (p.Ser32287=)
c.77946T>G (p.Ser25982=)
c.77745T>G (p.Ser25915=)
c.77370T>G (p.Ser25790=)
c.104565T>G (p.Ser34855=)
c.99642T>G (p.Ser33214=)
n.446+8414A>C
n.220-3682A>C
c.103662T>G (p.Ser34554=)
c.77556T>G (p.Ser25852=)
c.77415T>G (p.Ser25805=)
c.103458T>G (p.Ser34486=)
c.98856T>G (p.Ser32952=)
c.98853T>G (p.Ser32951=)
c.95895T>G (p.Ser31965=)
c.77511T>G (p.Ser25837=)
c.99006T>G (p.Ser33002=)
c.99003T>G (p.Ser33001=)
c.98436T>G (p.Ser32812=)
c.95778T>G (p.Ser31926=)
c.95697T>G (p.Ser31899=)
c.77460T>G (p.Ser25820=)
c.67314T>G (p.Ser22438=)
 gnomAD v4
2g.178532050A>GCA430235784TTN,TTN-AS1c.96861T>C (p.Ser32287=)
c.77946T>C (p.Ser25982=)
c.77745T>C (p.Ser25915=)
c.77370T>C (p.Ser25790=)
c.104565T>C (p.Ser34855=)
c.99642T>C (p.Ser33214=)
n.446+8414A>G
n.220-3682A>G
c.103662T>C (p.Ser34554=)
c.77556T>C (p.Ser25852=)
c.77415T>C (p.Ser25805=)
c.103458T>C (p.Ser34486=)
c.98856T>C (p.Ser32952=)
c.98853T>C (p.Ser32951=)
c.95895T>C (p.Ser31965=)
c.77511T>C (p.Ser25837=)
c.99006T>C (p.Ser33002=)
c.99003T>C (p.Ser33001=)
c.98436T>C (p.Ser32812=)
c.95778T>C (p.Ser31926=)
c.95697T>C (p.Ser31899=)
c.77460T>C (p.Ser25820=)
c.67314T>C (p.Ser22438=)
 dbSNP gnomAD v3 gnomAD v4
2g.178532050A>TCA430235785TTN,TTN-AS1c.96861T>A (p.Ser32287=)
c.77946T>A (p.Ser25982=)
c.77745T>A (p.Ser25915=)
c.77370T>A (p.Ser25790=)
c.104565T>A (p.Ser34855=)
c.99642T>A (p.Ser33214=)
n.446+8414A>T
n.220-3682A>T
c.103662T>A (p.Ser34554=)
c.77556T>A (p.Ser25852=)
c.77415T>A (p.Ser25805=)
c.103458T>A (p.Ser34486=)
c.98856T>A (p.Ser32952=)
c.98853T>A (p.Ser32951=)
c.95895T>A (p.Ser31965=)
c.77511T>A (p.Ser25837=)
c.99006T>A (p.Ser33002=)
c.99003T>A (p.Ser33001=)
c.98436T>A (p.Ser32812=)
c.95778T>A (p.Ser31926=)
c.95697T>A (p.Ser31899=)
c.77460T>A (p.Ser25820=)
c.67314T>A (p.Ser22438=)
2g.178532050_178532065delinsAGACACTGGCCTCATTCA1310518050TTN,TTN-AS1c.96846_96861delinsAATGAGGCCAGTGTCT (p.Leu32282=)
c.77931_77946delinsAATGAGGCCAGTGTCT (p.Leu25977=)
c.77730_77745delinsAATGAGGCCAGTGTCT (p.Leu25910=)
c.77355_77370delinsAATGAGGCCAGTGTCT (p.Leu25785=)
c.104550_104565delinsAATGAGGCCAGTGTCT (p.Leu34850=)
c.99627_99642delinsAATGAGGCCAGTGTCT (p.Leu33209=)
n.446+8414_446+8429delinsAGACACTGGCCTCATT
n.220-3682_220-3667delinsAGACACTGGCCTCATT
c.103647_103662delinsAATGAGGCCAGTGTCT (p.Leu34549=)
c.77541_77556delinsAATGAGGCCAGTGTCT (p.Leu25847=)
c.77400_77415delinsAATGAGGCCAGTGTCT (p.Leu25800=)
c.103443_103458delinsAATGAGGCCAGTGTCT (p.Leu34481=)
c.98841_98856delinsAATGAGGCCAGTGTCT (p.Leu32947=)
c.98838_98853delinsAATGAGGCCAGTGTCT (p.Leu32946=)
c.95880_95895delinsAATGAGGCCAGTGTCT (p.Leu31960=)
c.77496_77511delinsAATGAGGCCAGTGTCT (p.Leu25832=)
c.98991_99006delinsAATGAGGCCAGTGTCT (p.Leu32997=)
c.98988_99003delinsAATGAGGCCAGTGTCT (p.Leu32996=)
c.98421_98436delinsAATGAGGCCAGTGTCT (p.Leu32807=)
c.95763_95778delinsAATGAGGCCAGTGTCT (p.Leu31921=)
c.95682_95697delinsAATGAGGCCAGTGTCT (p.Leu31894=)
c.77445_77460delinsAATGAGGCCAGTGTCT (p.Leu25815=)
c.67299_67314delinsAATGAGGCCAGTGTCT (p.Leu22433=)
2g.178532051G>ACA349411394TTN,TTN-AS1c.96860C>T (p.Ser32287Phe)
c.77945C>T (p.Ser25982Phe)
c.77744C>T (p.Ser25915Phe)
c.77369C>T (p.Ser25790Phe)
c.104564C>T (p.Ser34855Phe)
c.99641C>T (p.Ser33214Phe)
n.446+8415G>A
n.220-3681G>A
c.103661C>T (p.Ser34554Phe)
c.77555C>T (p.Ser25852Phe)
c.77414C>T (p.Ser25805Phe)
c.103457C>T (p.Ser34486Phe)
c.98855C>T (p.Ser32952Phe)
c.98852C>T (p.Ser32951Phe)
c.95894C>T (p.Ser31965Phe)
c.77510C>T (p.Ser25837Phe)
c.99005C>T (p.Ser33002Phe)
c.99002C>T (p.Ser33001Phe)
c.98435C>T (p.Ser32812Phe)
c.95777C>T (p.Ser31926Phe)
c.95696C>T (p.Ser31899Phe)
c.77459C>T (p.Ser25820Phe)
c.67313C>T (p.Ser22438Phe)
2g.178532051G>CCA349411395TTN,TTN-AS1c.96860C>G (p.Ser32287Cys)
c.77945C>G (p.Ser25982Cys)
c.77744C>G (p.Ser25915Cys)
c.77369C>G (p.Ser25790Cys)
c.104564C>G (p.Ser34855Cys)
c.99641C>G (p.Ser33214Cys)
n.446+8415G>C
n.220-3681G>C
c.103661C>G (p.Ser34554Cys)
c.77555C>G (p.Ser25852Cys)
c.77414C>G (p.Ser25805Cys)
c.103457C>G (p.Ser34486Cys)
c.98855C>G (p.Ser32952Cys)
c.98852C>G (p.Ser32951Cys)
c.95894C>G (p.Ser31965Cys)
c.77510C>G (p.Ser25837Cys)
c.99005C>G (p.Ser33002Cys)
c.99002C>G (p.Ser33001Cys)
c.98435C>G (p.Ser32812Cys)
c.95777C>G (p.Ser31926Cys)
c.95696C>G (p.Ser31899Cys)
c.77459C>G (p.Ser25820Cys)
c.67313C>G (p.Ser22438Cys)
2g.178532051G=CA1310518051TTN,TTN-AS1c.96860C= (p.Ser32287=)
c.77945C= (p.Ser25982=)
c.77744C= (p.Ser25915=)
c.77369C= (p.Ser25790=)
c.104564C= (p.Ser34855=)
c.99641C= (p.Ser33214=)
n.446+8415G=
n.220-3681G=
c.103661C= (p.Ser34554=)
c.77555C= (p.Ser25852=)
c.77414C= (p.Ser25805=)
c.103457C= (p.Ser34486=)
c.98855C= (p.Ser32952=)
c.98852C= (p.Ser32951=)
c.95894C= (p.Ser31965=)
c.77510C= (p.Ser25837=)
c.99005C= (p.Ser33002=)
c.99002C= (p.Ser33001=)
c.98435C= (p.Ser32812=)
c.95777C= (p.Ser31926=)
c.95696C= (p.Ser31899=)
c.77459C= (p.Ser25820=)
c.67313C= (p.Ser22438=)
2g.178532051G>TCA10613205TTN,TTN-AS1c.96860C>A (p.Ser32287Tyr)
c.77945C>A (p.Ser25982Tyr)
c.77744C>A (p.Ser25915Tyr)
c.77369C>A (p.Ser25790Tyr)
c.104564C>A (p.Ser34855Tyr)
c.99641C>A (p.Ser33214Tyr)
n.446+8415G>T
n.220-3681G>T
c.103661C>A (p.Ser34554Tyr)
c.77555C>A (p.Ser25852Tyr)
c.77414C>A (p.Ser25805Tyr)
c.103457C>A (p.Ser34486Tyr)
c.98855C>A (p.Ser32952Tyr)
c.98852C>A (p.Ser32951Tyr)
c.95894C>A (p.Ser31965Tyr)
c.77510C>A (p.Ser25837Tyr)
c.99005C>A (p.Ser33002Tyr)
c.99002C>A (p.Ser33001Tyr)
c.98435C>A (p.Ser32812Tyr)
c.95777C>A (p.Ser31926Tyr)
c.95696C>A (p.Ser31899Tyr)
c.77459C>A (p.Ser25820Tyr)
c.67313C>A (p.Ser22438Tyr)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.178532051_178532065delCA1039708635TTN,TTN-AS1c.96846_96860del (p.Leu32282_Ser32287delinsPhe)
c.77931_77945del (p.Leu25977_Ser25982delinsPhe)
c.77730_77744del (p.Leu25910_Ser25915delinsPhe)
c.77355_77369del (p.Leu25785_Ser25790delinsPhe)
c.104550_104564del (p.Leu34850_Ser34855delinsPhe)
c.99627_99641del (p.Leu33209_Ser33214delinsPhe)
n.446+8415_446+8429del
n.220-3681_220-3667del
c.103647_103661del (p.Leu34549_Ser34554delinsPhe)
c.77541_77555del (p.Leu25847_Ser25852delinsPhe)
c.77400_77414del (p.Leu25800_Ser25805delinsPhe)
c.103443_103457del (p.Leu34481_Ser34486delinsPhe)
c.98841_98855del (p.Leu32947_Ser32952delinsPhe)
c.98838_98852del (p.Leu32946_Ser32951delinsPhe)
c.95880_95894del (p.Leu31960_Ser31965delinsPhe)
c.77496_77510del (p.Leu25832_Ser25837delinsPhe)
c.98991_99005del (p.Leu32997_Ser33002delinsPhe)
c.98988_99002del (p.Leu32996_Ser33001delinsPhe)
c.98421_98435del (p.Leu32807_Ser32812delinsPhe)
c.95763_95777del (p.Leu31921_Ser31926delinsPhe)
c.95682_95696del (p.Leu31894_Ser31899delinsPhe)
c.77445_77459del (p.Leu25815_Ser25820delinsPhe)
c.67299_67313del (p.Leu22433_Ser22438delinsPhe)
 dbSNP gnomAD v3 gnomAD v4
2g.178532052A>CCA349411396TTN,TTN-AS1c.96859T>G (p.Ser32287Ala)
c.77944T>G (p.Ser25982Ala)
c.77743T>G (p.Ser25915Ala)
c.77368T>G (p.Ser25790Ala)
c.104563T>G (p.Ser34855Ala)
c.99640T>G (p.Ser33214Ala)
n.446+8416A>C
n.220-3680A>C
c.103660T>G (p.Ser34554Ala)
c.77554T>G (p.Ser25852Ala)
c.77413T>G (p.Ser25805Ala)
c.103456T>G (p.Ser34486Ala)
c.98854T>G (p.Ser32952Ala)
c.98851T>G (p.Ser32951Ala)
c.95893T>G (p.Ser31965Ala)
c.77509T>G (p.Ser25837Ala)
c.99004T>G (p.Ser33002Ala)
c.99001T>G (p.Ser33001Ala)
c.98434T>G (p.Ser32812Ala)
c.95776T>G (p.Ser31926Ala)
c.95695T>G (p.Ser31899Ala)
c.77458T>G (p.Ser25820Ala)
c.67312T>G (p.Ser22438Ala)
2g.178532052A>GCA349411397TTN,TTN-AS1c.96859T>C (p.Ser32287Pro)
c.77944T>C (p.Ser25982Pro)
c.77743T>C (p.Ser25915Pro)
c.77368T>C (p.Ser25790Pro)
c.104563T>C (p.Ser34855Pro)
c.99640T>C (p.Ser33214Pro)
n.446+8416A>G
n.220-3680A>G
c.103660T>C (p.Ser34554Pro)
c.77554T>C (p.Ser25852Pro)
c.77413T>C (p.Ser25805Pro)
c.103456T>C (p.Ser34486Pro)
c.98854T>C (p.Ser32952Pro)
c.98851T>C (p.Ser32951Pro)
c.95893T>C (p.Ser31965Pro)
c.77509T>C (p.Ser25837Pro)
c.99004T>C (p.Ser33002Pro)
c.99001T>C (p.Ser33001Pro)
c.98434T>C (p.Ser32812Pro)
c.95776T>C (p.Ser31926Pro)
c.95695T>C (p.Ser31899Pro)
c.77458T>C (p.Ser25820Pro)
c.67312T>C (p.Ser22438Pro)
2g.178532052A>TCA349411398TTN,TTN-AS1c.96859T>A (p.Ser32287Thr)
c.77944T>A (p.Ser25982Thr)
c.77743T>A (p.Ser25915Thr)
c.77368T>A (p.Ser25790Thr)
c.104563T>A (p.Ser34855Thr)
c.99640T>A (p.Ser33214Thr)
n.446+8416A>T
n.220-3680A>T
c.103660T>A (p.Ser34554Thr)
c.77554T>A (p.Ser25852Thr)
c.77413T>A (p.Ser25805Thr)
c.103456T>A (p.Ser34486Thr)
c.98854T>A (p.Ser32952Thr)
c.98851T>A (p.Ser32951Thr)
c.95893T>A (p.Ser31965Thr)
c.77509T>A (p.Ser25837Thr)
c.99004T>A (p.Ser33002Thr)
c.99001T>A (p.Ser33001Thr)
c.98434T>A (p.Ser32812Thr)
c.95776T>A (p.Ser31926Thr)
c.95695T>A (p.Ser31899Thr)
c.77458T>A (p.Ser25820Thr)
c.67312T>A (p.Ser22438Thr)
2g.178532053C>ACA430235792TTN,TTN-AS1c.96858G>T (p.Val32286=)
c.77943G>T (p.Val25981=)
c.77742G>T (p.Val25914=)
c.77367G>T (p.Val25789=)
c.104562G>T (p.Val34854=)
c.99639G>T (p.Val33213=)
n.446+8417C>A
n.220-3679C>A
c.103659G>T (p.Val34553=)
c.77553G>T (p.Val25851=)
c.77412G>T (p.Val25804=)
c.103455G>T (p.Val34485=)
c.98853G>T (p.Val32951=)
c.98850G>T (p.Val32950=)
c.95892G>T (p.Val31964=)
c.77508G>T (p.Val25836=)
c.99003G>T (p.Val33001=)
c.99000G>T (p.Val33000=)
c.98433G>T (p.Val32811=)
c.95775G>T (p.Val31925=)
c.95694G>T (p.Val31898=)
c.77457G>T (p.Val25819=)
c.67311G>T (p.Val22437=)
2g.178532053C=CA1310518052TTN,TTN-AS1c.96858G= (p.Val32286=)
c.77943G= (p.Val25981=)
c.77742G= (p.Val25914=)
c.77367G= (p.Val25789=)
c.104562G= (p.Val34854=)
c.99639G= (p.Val33213=)
n.446+8417C=
n.220-3679C=
c.103659G= (p.Val34553=)
c.77553G= (p.Val25851=)
c.77412G= (p.Val25804=)
c.103455G= (p.Val34485=)
c.98853G= (p.Val32951=)
c.98850G= (p.Val32950=)
c.95892G= (p.Val31964=)
c.77508G= (p.Val25836=)
c.99003G= (p.Val33001=)
c.99000G= (p.Val33000=)
c.98433G= (p.Val32811=)
c.95775G= (p.Val31925=)
c.95694G= (p.Val31898=)
c.77457G= (p.Val25819=)
c.67311G= (p.Val22437=)
2g.178532053C>GCA430235794TTN,TTN-AS1c.96858G>C (p.Val32286=)
c.77943G>C (p.Val25981=)
c.77742G>C (p.Val25914=)
c.77367G>C (p.Val25789=)
c.104562G>C (p.Val34854=)
c.99639G>C (p.Val33213=)
n.446+8417C>G
n.220-3679C>G
c.103659G>C (p.Val34553=)
c.77553G>C (p.Val25851=)
c.77412G>C (p.Val25804=)
c.103455G>C (p.Val34485=)
c.98853G>C (p.Val32951=)
c.98850G>C (p.Val32950=)
c.95892G>C (p.Val31964=)
c.77508G>C (p.Val25836=)
c.99003G>C (p.Val33001=)
c.99000G>C (p.Val33000=)
c.98433G>C (p.Val32811=)
c.95775G>C (p.Val31925=)
c.95694G>C (p.Val31898=)
c.77457G>C (p.Val25819=)
c.67311G>C (p.Val22437=)
2g.178532053C>TCA430235796TTN,TTN-AS1c.96858G>A (p.Val32286=)
c.77943G>A (p.Val25981=)
c.77742G>A (p.Val25914=)
c.77367G>A (p.Val25789=)
c.104562G>A (p.Val34854=)
c.99639G>A (p.Val33213=)
n.446+8417C>T
n.220-3679C>T
c.103659G>A (p.Val34553=)
c.77553G>A (p.Val25851=)
c.77412G>A (p.Val25804=)
c.103455G>A (p.Val34485=)
c.98853G>A (p.Val32951=)
c.98850G>A (p.Val32950=)
c.95892G>A (p.Val31964=)
c.77508G>A (p.Val25836=)
c.99003G>A (p.Val33001=)
c.99000G>A (p.Val33000=)
c.98433G>A (p.Val32811=)
c.95775G>A (p.Val31925=)
c.95694G>A (p.Val31898=)
c.77457G>A (p.Val25819=)
c.67311G>A (p.Val22437=)
2g.178532054A=CA1310518054TTN,TTN-AS1c.96857T= (p.Val32286=)
c.77942T= (p.Val25981=)
c.77741T= (p.Val25914=)
c.77366T= (p.Val25789=)
c.104561T= (p.Val34854=)
c.99638T= (p.Val33213=)
n.446+8418A=
n.220-3678A=
c.103658T= (p.Val34553=)
c.77552T= (p.Val25851=)
c.77411T= (p.Val25804=)
c.103454T= (p.Val34485=)
c.98852T= (p.Val32951=)
c.98849T= (p.Val32950=)
c.95891T= (p.Val31964=)
c.77507T= (p.Val25836=)
c.99002T= (p.Val33001=)
c.98999T= (p.Val33000=)
c.98432T= (p.Val32811=)
c.95774T= (p.Val31925=)
c.95693T= (p.Val31898=)
c.77456T= (p.Val25819=)
c.67310T= (p.Val22437=)
2g.178532054A>CCA1985403TTN,TTN-AS1c.96857T>G (p.Val32286Gly)
c.77942T>G (p.Val25981Gly)
c.77741T>G (p.Val25914Gly)
c.77366T>G (p.Val25789Gly)
c.104561T>G (p.Val34854Gly)
c.99638T>G (p.Val33213Gly)
n.446+8418A>C
n.220-3678A>C
c.103658T>G (p.Val34553Gly)
c.77552T>G (p.Val25851Gly)
c.77411T>G (p.Val25804Gly)
c.103454T>G (p.Val34485Gly)
c.98852T>G (p.Val32951Gly)
c.98849T>G (p.Val32950Gly)
c.95891T>G (p.Val31964Gly)
c.77507T>G (p.Val25836Gly)
c.99002T>G (p.Val33001Gly)
c.98999T>G (p.Val33000Gly)
c.98432T>G (p.Val32811Gly)
c.95774T>G (p.Val31925Gly)
c.95693T>G (p.Val31898Gly)
c.77456T>G (p.Val25819Gly)
c.67310T>G (p.Val22437Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178532054A>GCA1985402TTN,TTN-AS1c.96857T>C (p.Val32286Ala)
c.77942T>C (p.Val25981Ala)
c.77741T>C (p.Val25914Ala)
c.77366T>C (p.Val25789Ala)
c.104561T>C (p.Val34854Ala)
c.99638T>C (p.Val33213Ala)
n.446+8418A>G
n.220-3678A>G
c.103658T>C (p.Val34553Ala)
c.77552T>C (p.Val25851Ala)
c.77411T>C (p.Val25804Ala)
c.103454T>C (p.Val34485Ala)
c.98852T>C (p.Val32951Ala)
c.98849T>C (p.Val32950Ala)
c.95891T>C (p.Val31964Ala)
c.77507T>C (p.Val25836Ala)
c.99002T>C (p.Val33001Ala)
c.98999T>C (p.Val33000Ala)
c.98432T>C (p.Val32811Ala)
c.95774T>C (p.Val31925Ala)
c.95693T>C (p.Val31898Ala)
c.77456T>C (p.Val25819Ala)
c.67310T>C (p.Val22437Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178532054A>TCA349411399TTN,TTN-AS1c.96857T>A (p.Val32286Glu)
c.77942T>A (p.Val25981Glu)
c.77741T>A (p.Val25914Glu)
c.77366T>A (p.Val25789Glu)
c.104561T>A (p.Val34854Glu)
c.99638T>A (p.Val33213Glu)
n.446+8418A>T
n.220-3678A>T
c.103658T>A (p.Val34553Glu)
c.77552T>A (p.Val25851Glu)
c.77411T>A (p.Val25804Glu)
c.103454T>A (p.Val34485Glu)
c.98852T>A (p.Val32951Glu)
c.98849T>A (p.Val32950Glu)
c.95891T>A (p.Val31964Glu)
c.77507T>A (p.Val25836Glu)
c.99002T>A (p.Val33001Glu)
c.98999T>A (p.Val33000Glu)
c.98432T>A (p.Val32811Glu)
c.95774T>A (p.Val31925Glu)
c.95693T>A (p.Val31898Glu)
c.77456T>A (p.Val25819Glu)
c.67310T>A (p.Val22437Glu)
2g.178532054dupCA1310518053TTN,TTN-AS1c.96857dup (p.Ser32287ValfsTer2)
c.77942dup (p.Ser25982ValfsTer2)
c.77741dup (p.Ser25915ValfsTer2)
c.77366dup (p.Ser25790ValfsTer2)
c.104561dup (p.Ser34855ValfsTer2)
c.99638dup (p.Ser33214ValfsTer2)
n.446+8418dup
n.220-3678dup
c.103658dup (p.Ser34554ValfsTer2)
c.77552dup (p.Ser25852ValfsTer2)
c.77411dup (p.Ser25805ValfsTer2)
c.103454dup (p.Ser34486ValfsTer2)
c.98852dup (p.Ser32952ValfsTer2)
c.98849dup (p.Ser32951ValfsTer2)
c.95891dup (p.Ser31965ValfsTer2)
c.77507dup (p.Ser25837ValfsTer2)
c.99002dup (p.Ser33002ValfsTer2)
c.98999dup (p.Ser33001ValfsTer2)
c.98432dup (p.Ser32812ValfsTer2)
c.95774dup (p.Ser31926ValfsTer2)
c.95693dup (p.Ser31899ValfsTer2)
c.77456dup (p.Ser25820ValfsTer2)
c.67310dup (p.Ser22438ValfsTer2)
 dbSNP
2g.178532055C>ACA349411400TTN,TTN-AS1c.96856G>T (p.Val32286Leu)
c.77941G>T (p.Val25981Leu)
c.77740G>T (p.Val25914Leu)
c.77365G>T (p.Val25789Leu)
c.104560G>T (p.Val34854Leu)
c.99637G>T (p.Val33213Leu)
n.446+8419C>A
n.220-3677C>A
c.103657G>T (p.Val34553Leu)
c.77551G>T (p.Val25851Leu)
c.77410G>T (p.Val25804Leu)
c.103453G>T (p.Val34485Leu)
c.98851G>T (p.Val32951Leu)
c.98848G>T (p.Val32950Leu)
c.95890G>T (p.Val31964Leu)
c.77506G>T (p.Val25836Leu)
c.99001G>T (p.Val33001Leu)
c.98998G>T (p.Val33000Leu)
c.98431G>T (p.Val32811Leu)
c.95773G>T (p.Val31925Leu)
c.95692G>T (p.Val31898Leu)
c.77455G>T (p.Val25819Leu)
c.67309G>T (p.Val22437Leu)
2g.178532055C=CA1310518055TTN,TTN-AS1c.96856G= (p.Val32286=)
c.77941G= (p.Val25981=)
c.77740G= (p.Val25914=)
c.77365G= (p.Val25789=)
c.104560G= (p.Val34854=)
c.99637G= (p.Val33213=)
n.446+8419C=
n.220-3677C=
c.103657G= (p.Val34553=)
c.77551G= (p.Val25851=)
c.77410G= (p.Val25804=)
c.103453G= (p.Val34485=)
c.98851G= (p.Val32951=)
c.98848G= (p.Val32950=)
c.95890G= (p.Val31964=)
c.77506G= (p.Val25836=)
c.99001G= (p.Val33001=)
c.98998G= (p.Val33000=)
c.98431G= (p.Val32811=)
c.95773G= (p.Val31925=)
c.95692G= (p.Val31898=)
c.77455G= (p.Val25819=)
c.67309G= (p.Val22437=)
2g.178532055C>GCA289122TTN,TTN-AS1c.96856G>C (p.Val32286Leu)
c.77941G>C (p.Val25981Leu)
c.77740G>C (p.Val25914Leu)
c.77365G>C (p.Val25789Leu)
c.104560G>C (p.Val34854Leu)
c.99637G>C (p.Val33213Leu)
n.446+8419C>G
n.220-3677C>G
c.103657G>C (p.Val34553Leu)
c.77551G>C (p.Val25851Leu)
c.77410G>C (p.Val25804Leu)
c.103453G>C (p.Val34485Leu)
c.98851G>C (p.Val32951Leu)
c.98848G>C (p.Val32950Leu)
c.95890G>C (p.Val31964Leu)
c.77506G>C (p.Val25836Leu)
c.99001G>C (p.Val33001Leu)
c.98998G>C (p.Val33000Leu)
c.98431G>C (p.Val32811Leu)
c.95773G>C (p.Val31925Leu)
c.95692G>C (p.Val31898Leu)
c.77455G>C (p.Val25819Leu)
c.67309G>C (p.Val22437Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178532055C>TCA349411401TTN,TTN-AS1c.96856G>A (p.Val32286Met)
c.77941G>A (p.Val25981Met)
c.77740G>A (p.Val25914Met)
c.77365G>A (p.Val25789Met)
c.104560G>A (p.Val34854Met)
c.99637G>A (p.Val33213Met)
n.446+8419C>T
n.220-3677C>T
c.103657G>A (p.Val34553Met)
c.77551G>A (p.Val25851Met)
c.77410G>A (p.Val25804Met)
c.103453G>A (p.Val34485Met)
c.98851G>A (p.Val32951Met)
c.98848G>A (p.Val32950Met)
c.95890G>A (p.Val31964Met)
c.77506G>A (p.Val25836Met)
c.99001G>A (p.Val33001Met)
c.98998G>A (p.Val33000Met)
c.98431G>A (p.Val32811Met)
c.95773G>A (p.Val31925Met)
c.95692G>A (p.Val31898Met)
c.77455G>A (p.Val25819Met)
c.67309G>A (p.Val22437Met)
2g.178532056T>ACA430235800TTN,TTN-AS1c.96855A>T (p.Pro32285=)
c.77940A>T (p.Pro25980=)
c.77739A>T (p.Pro25913=)
c.77364A>T (p.Pro25788=)
c.104559A>T (p.Pro34853=)
c.99636A>T (p.Pro33212=)
n.446+8420T>A
n.220-3676T>A
c.103656A>T (p.Pro34552=)
c.77550A>T (p.Pro25850=)
c.77409A>T (p.Pro25803=)
c.103452A>T (p.Pro34484=)
c.98850A>T (p.Pro32950=)
c.98847A>T (p.Pro32949=)
c.95889A>T (p.Pro31963=)
c.77505A>T (p.Pro25835=)
c.99000A>T (p.Pro33000=)
c.98997A>T (p.Pro32999=)
c.98430A>T (p.Pro32810=)
c.95772A>T (p.Pro31924=)
c.95691A>T (p.Pro31897=)
c.77454A>T (p.Pro25818=)
c.67308A>T (p.Pro22436=)
2g.178532056T>CCA430235803TTN,TTN-AS1c.96855A>G (p.Pro32285=)
c.77940A>G (p.Pro25980=)
c.77739A>G (p.Pro25913=)
c.77364A>G (p.Pro25788=)
c.104559A>G (p.Pro34853=)
c.99636A>G (p.Pro33212=)
n.446+8420T>C
n.220-3676T>C
c.103656A>G (p.Pro34552=)
c.77550A>G (p.Pro25850=)
c.77409A>G (p.Pro25803=)
c.103452A>G (p.Pro34484=)
c.98850A>G (p.Pro32950=)
c.98847A>G (p.Pro32949=)
c.95889A>G (p.Pro31963=)
c.77505A>G (p.Pro25835=)
c.99000A>G (p.Pro33000=)
c.98997A>G (p.Pro32999=)
c.98430A>G (p.Pro32810=)
c.95772A>G (p.Pro31924=)
c.95691A>G (p.Pro31897=)
c.77454A>G (p.Pro25818=)
c.67308A>G (p.Pro22436=)
 gnomAD v4
2g.178532056T>GCA430235806TTN,TTN-AS1c.96855A>C (p.Pro32285=)
c.77940A>C (p.Pro25980=)
c.77739A>C (p.Pro25913=)
c.77364A>C (p.Pro25788=)
c.104559A>C (p.Pro34853=)
c.99636A>C (p.Pro33212=)
n.446+8420T>G
n.220-3676T>G
c.103656A>C (p.Pro34552=)
c.77550A>C (p.Pro25850=)
c.77409A>C (p.Pro25803=)
c.103452A>C (p.Pro34484=)
c.98850A>C (p.Pro32950=)
c.98847A>C (p.Pro32949=)
c.95889A>C (p.Pro31963=)
c.77505A>C (p.Pro25835=)
c.99000A>C (p.Pro33000=)
c.98997A>C (p.Pro32999=)
c.98430A>C (p.Pro32810=)
c.95772A>C (p.Pro31924=)
c.95691A>C (p.Pro31897=)
c.77454A>C (p.Pro25818=)
c.67308A>C (p.Pro22436=)
2g.178532057G>ACA349411402TTN,TTN-AS1c.96854C>T (p.Pro32285Leu)
c.77939C>T (p.Pro25980Leu)
c.77738C>T (p.Pro25913Leu)
c.77363C>T (p.Pro25788Leu)
c.104558C>T (p.Pro34853Leu)
c.99635C>T (p.Pro33212Leu)
n.446+8421G>A
n.220-3675G>A
c.103655C>T (p.Pro34552Leu)
c.77549C>T (p.Pro25850Leu)
c.77408C>T (p.Pro25803Leu)
c.103451C>T (p.Pro34484Leu)
c.98849C>T (p.Pro32950Leu)
c.98846C>T (p.Pro32949Leu)
c.95888C>T (p.Pro31963Leu)
c.77504C>T (p.Pro25835Leu)
c.98999C>T (p.Pro33000Leu)
c.98996C>T (p.Pro32999Leu)
c.98429C>T (p.Pro32810Leu)
c.95771C>T (p.Pro31924Leu)
c.95690C>T (p.Pro31897Leu)
c.77453C>T (p.Pro25818Leu)
c.67307C>T (p.Pro22436Leu)
 dbSNP gnomAD v2 gnomAD v4
2g.178532057G>CCA349411404TTN,TTN-AS1c.96854C>G (p.Pro32285Arg)
c.77939C>G (p.Pro25980Arg)
c.77738C>G (p.Pro25913Arg)
c.77363C>G (p.Pro25788Arg)
c.104558C>G (p.Pro34853Arg)
c.99635C>G (p.Pro33212Arg)
n.446+8421G>C
n.220-3675G>C
c.103655C>G (p.Pro34552Arg)
c.77549C>G (p.Pro25850Arg)
c.77408C>G (p.Pro25803Arg)
c.103451C>G (p.Pro34484Arg)
c.98849C>G (p.Pro32950Arg)
c.98846C>G (p.Pro32949Arg)
c.95888C>G (p.Pro31963Arg)
c.77504C>G (p.Pro25835Arg)
c.98999C>G (p.Pro33000Arg)
c.98996C>G (p.Pro32999Arg)
c.98429C>G (p.Pro32810Arg)
c.95771C>G (p.Pro31924Arg)
c.95690C>G (p.Pro31897Arg)
c.77453C>G (p.Pro25818Arg)
c.67307C>G (p.Pro22436Arg)
2g.178532057G=CA1310518056TTN,TTN-AS1c.96854C= (p.Pro32285=)
c.77939C= (p.Pro25980=)
c.77738C= (p.Pro25913=)
c.77363C= (p.Pro25788=)
c.104558C= (p.Pro34853=)
c.99635C= (p.Pro33212=)
n.446+8421G=
n.220-3675G=
c.103655C= (p.Pro34552=)
c.77549C= (p.Pro25850=)
c.77408C= (p.Pro25803=)
c.103451C= (p.Pro34484=)
c.98849C= (p.Pro32950=)
c.98846C= (p.Pro32949=)
c.95888C= (p.Pro31963=)
c.77504C= (p.Pro25835=)
c.98999C= (p.Pro33000=)
c.98996C= (p.Pro32999=)
c.98429C= (p.Pro32810=)
c.95771C= (p.Pro31924=)
c.95690C= (p.Pro31897=)
c.77453C= (p.Pro25818=)
c.67307C= (p.Pro22436=)
2g.178532057G>TCA349411403TTN,TTN-AS1c.96854C>A (p.Pro32285Gln)
c.77939C>A (p.Pro25980Gln)
c.77738C>A (p.Pro25913Gln)
c.77363C>A (p.Pro25788Gln)
c.104558C>A (p.Pro34853Gln)
c.99635C>A (p.Pro33212Gln)
n.446+8421G>T
n.220-3675G>T
c.103655C>A (p.Pro34552Gln)
c.77549C>A (p.Pro25850Gln)
c.77408C>A (p.Pro25803Gln)
c.103451C>A (p.Pro34484Gln)
c.98849C>A (p.Pro32950Gln)
c.98846C>A (p.Pro32949Gln)
c.95888C>A (p.Pro31963Gln)
c.77504C>A (p.Pro25835Gln)
c.98999C>A (p.Pro33000Gln)
c.98996C>A (p.Pro32999Gln)
c.98429C>A (p.Pro32810Gln)
c.95771C>A (p.Pro31924Gln)
c.95690C>A (p.Pro31897Gln)
c.77453C>A (p.Pro25818Gln)
c.67307C>A (p.Pro22436Gln)
2g.178532058G>ACA349411405TTN,TTN-AS1c.96853C>T (p.Pro32285Ser)
c.77938C>T (p.Pro25980Ser)
c.77737C>T (p.Pro25913Ser)
c.77362C>T (p.Pro25788Ser)
c.104557C>T (p.Pro34853Ser)
c.99634C>T (p.Pro33212Ser)
n.446+8422G>A
n.220-3674G>A
c.103654C>T (p.Pro34552Ser)
c.77548C>T (p.Pro25850Ser)
c.77407C>T (p.Pro25803Ser)
c.103450C>T (p.Pro34484Ser)
c.98848C>T (p.Pro32950Ser)
c.98845C>T (p.Pro32949Ser)
c.95887C>T (p.Pro31963Ser)
c.77503C>T (p.Pro25835Ser)
c.98998C>T (p.Pro33000Ser)
c.98995C>T (p.Pro32999Ser)
c.98428C>T (p.Pro32810Ser)
c.95770C>T (p.Pro31924Ser)
c.95689C>T (p.Pro31897Ser)
c.77452C>T (p.Pro25818Ser)
c.67306C>T (p.Pro22436Ser)
2g.178532058G>CCA349411406TTN,TTN-AS1c.96853C>G (p.Pro32285Ala)
c.77938C>G (p.Pro25980Ala)
c.77737C>G (p.Pro25913Ala)
c.77362C>G (p.Pro25788Ala)
c.104557C>G (p.Pro34853Ala)
c.99634C>G (p.Pro33212Ala)
n.446+8422G>C
n.220-3674G>C
c.103654C>G (p.Pro34552Ala)
c.77548C>G (p.Pro25850Ala)
c.77407C>G (p.Pro25803Ala)
c.103450C>G (p.Pro34484Ala)
c.98848C>G (p.Pro32950Ala)
c.98845C>G (p.Pro32949Ala)
c.95887C>G (p.Pro31963Ala)
c.77503C>G (p.Pro25835Ala)
c.98998C>G (p.Pro33000Ala)
c.98995C>G (p.Pro32999Ala)
c.98428C>G (p.Pro32810Ala)
c.95770C>G (p.Pro31924Ala)
c.95689C>G (p.Pro31897Ala)
c.77452C>G (p.Pro25818Ala)
c.67306C>G (p.Pro22436Ala)
2g.178532058G>TCA349411407TTN,TTN-AS1c.96853C>A (p.Pro32285Thr)
c.77938C>A (p.Pro25980Thr)
c.77737C>A (p.Pro25913Thr)
c.77362C>A (p.Pro25788Thr)
c.104557C>A (p.Pro34853Thr)
c.99634C>A (p.Pro33212Thr)
n.446+8422G>T
n.220-3674G>T
c.103654C>A (p.Pro34552Thr)
c.77548C>A (p.Pro25850Thr)
c.77407C>A (p.Pro25803Thr)
c.103450C>A (p.Pro34484Thr)
c.98848C>A (p.Pro32950Thr)
c.98845C>A (p.Pro32949Thr)
c.95887C>A (p.Pro31963Thr)
c.77503C>A (p.Pro25835Thr)
c.98998C>A (p.Pro33000Thr)
c.98995C>A (p.Pro32999Thr)
c.98428C>A (p.Pro32810Thr)
c.95770C>A (p.Pro31924Thr)
c.95689C>A (p.Pro31897Thr)
c.77452C>A (p.Pro25818Thr)
c.67306C>A (p.Pro22436Thr)
2g.178532059C>ACA349411408TTN,TTN-AS1c.96852G>T (p.Arg32284Ser)
c.77937G>T (p.Arg25979Ser)
c.77736G>T (p.Arg25912Ser)
c.77361G>T (p.Arg25787Ser)
c.104556G>T (p.Arg34852Ser)
c.99633G>T (p.Arg33211Ser)
n.446+8423C>A
n.220-3673C>A
c.103653G>T (p.Arg34551Ser)
c.77547G>T (p.Arg25849Ser)
c.77406G>T (p.Arg25802Ser)
c.103449G>T (p.Arg34483Ser)
c.98847G>T (p.Arg32949Ser)
c.98844G>T (p.Arg32948Ser)
c.95886G>T (p.Arg31962Ser)
c.77502G>T (p.Arg25834Ser)
c.98997G>T (p.Arg32999Ser)
c.98994G>T (p.Arg32998Ser)
c.98427G>T (p.Arg32809Ser)
c.95769G>T (p.Arg31923Ser)
c.95688G>T (p.Arg31896Ser)
c.77451G>T (p.Arg25817Ser)
c.67305G>T (p.Arg22435Ser)
2g.178532059C>GCA349411409TTN,TTN-AS1c.96852G>C (p.Arg32284Ser)
c.77937G>C (p.Arg25979Ser)
c.77736G>C (p.Arg25912Ser)
c.77361G>C (p.Arg25787Ser)
c.104556G>C (p.Arg34852Ser)
c.99633G>C (p.Arg33211Ser)
n.446+8423C>G
n.220-3673C>G
c.103653G>C (p.Arg34551Ser)
c.77547G>C (p.Arg25849Ser)
c.77406G>C (p.Arg25802Ser)
c.103449G>C (p.Arg34483Ser)
c.98847G>C (p.Arg32949Ser)
c.98844G>C (p.Arg32948Ser)
c.95886G>C (p.Arg31962Ser)
c.77502G>C (p.Arg25834Ser)
c.98997G>C (p.Arg32999Ser)
c.98994G>C (p.Arg32998Ser)
c.98427G>C (p.Arg32809Ser)
c.95769G>C (p.Arg31923Ser)
c.95688G>C (p.Arg31896Ser)
c.77451G>C (p.Arg25817Ser)
c.67305G>C (p.Arg22435Ser)
2g.178532059C>TCA430235808TTN,TTN-AS1c.96852G>A (p.Arg32284=)
c.77937G>A (p.Arg25979=)
c.77736G>A (p.Arg25912=)
c.77361G>A (p.Arg25787=)
c.104556G>A (p.Arg34852=)
c.99633G>A (p.Arg33211=)
n.446+8423C>T
n.220-3673C>T
c.103653G>A (p.Arg34551=)
c.77547G>A (p.Arg25849=)
c.77406G>A (p.Arg25802=)
c.103449G>A (p.Arg34483=)
c.98847G>A (p.Arg32949=)
c.98844G>A (p.Arg32948=)
c.95886G>A (p.Arg31962=)
c.77502G>A (p.Arg25834=)
c.98997G>A (p.Arg32999=)
c.98994G>A (p.Arg32998=)
c.98427G>A (p.Arg32809=)
c.95769G>A (p.Arg31923=)
c.95688G>A (p.Arg31896=)
c.77451G>A (p.Arg25817=)
c.67305G>A (p.Arg22435=)
2g.178532060C>ACA349411410TTN,TTN-AS1c.96851G>T (p.Arg32284Met)
c.77936G>T (p.Arg25979Met)
c.77735G>T (p.Arg25912Met)
c.77360G>T (p.Arg25787Met)
c.104555G>T (p.Arg34852Met)
c.99632G>T (p.Arg33211Met)
n.446+8424C>A
n.220-3672C>A
c.103652G>T (p.Arg34551Met)
c.77546G>T (p.Arg25849Met)
c.77405G>T (p.Arg25802Met)
c.103448G>T (p.Arg34483Met)
c.98846G>T (p.Arg32949Met)
c.98843G>T (p.Arg32948Met)
c.95885G>T (p.Arg31962Met)
c.77501G>T (p.Arg25834Met)
c.98996G>T (p.Arg32999Met)
c.98993G>T (p.Arg32998Met)
c.98426G>T (p.Arg32809Met)
c.95768G>T (p.Arg31923Met)
c.95687G>T (p.Arg31896Met)
c.77450G>T (p.Arg25817Met)
c.67304G>T (p.Arg22435Met)
2g.178532060C=CA1310518057TTN,TTN-AS1c.96851G= (p.Arg32284=)
c.77936G= (p.Arg25979=)
c.77735G= (p.Arg25912=)
c.77360G= (p.Arg25787=)
c.104555G= (p.Arg34852=)
c.99632G= (p.Arg33211=)
n.446+8424C=
n.220-3672C=
c.103652G= (p.Arg34551=)
c.77546G= (p.Arg25849=)
c.77405G= (p.Arg25802=)
c.103448G= (p.Arg34483=)
c.98846G= (p.Arg32949=)
c.98843G= (p.Arg32948=)
c.95885G= (p.Arg31962=)
c.77501G= (p.Arg25834=)
c.98996G= (p.Arg32999=)
c.98993G= (p.Arg32998=)
c.98426G= (p.Arg32809=)
c.95768G= (p.Arg31923=)
c.95687G= (p.Arg31896=)
c.77450G= (p.Arg25817=)
c.67304G= (p.Arg22435=)
2g.178532060C>GCA349411411TTN,TTN-AS1c.96851G>C (p.Arg32284Thr)
c.77936G>C (p.Arg25979Thr)
c.77735G>C (p.Arg25912Thr)
c.77360G>C (p.Arg25787Thr)
c.104555G>C (p.Arg34852Thr)
c.99632G>C (p.Arg33211Thr)
n.446+8424C>G
n.220-3672C>G
c.103652G>C (p.Arg34551Thr)
c.77546G>C (p.Arg25849Thr)
c.77405G>C (p.Arg25802Thr)
c.103448G>C (p.Arg34483Thr)
c.98846G>C (p.Arg32949Thr)
c.98843G>C (p.Arg32948Thr)
c.95885G>C (p.Arg31962Thr)
c.77501G>C (p.Arg25834Thr)
c.98996G>C (p.Arg32999Thr)
c.98993G>C (p.Arg32998Thr)
c.98426G>C (p.Arg32809Thr)
c.95768G>C (p.Arg31923Thr)
c.95687G>C (p.Arg31896Thr)
c.77450G>C (p.Arg25817Thr)
c.67304G>C (p.Arg22435Thr)
2g.178532060C>TCA349411412TTN,TTN-AS1c.96851G>A (p.Arg32284Lys)
c.77936G>A (p.Arg25979Lys)
c.77735G>A (p.Arg25912Lys)
c.77360G>A (p.Arg25787Lys)
c.104555G>A (p.Arg34852Lys)
c.99632G>A (p.Arg33211Lys)
n.446+8424C>T
n.220-3672C>T
c.103652G>A (p.Arg34551Lys)
c.77546G>A (p.Arg25849Lys)
c.77405G>A (p.Arg25802Lys)
c.103448G>A (p.Arg34483Lys)
c.98846G>A (p.Arg32949Lys)
c.98843G>A (p.Arg32948Lys)
c.95885G>A (p.Arg31962Lys)
c.77501G>A (p.Arg25834Lys)
c.98996G>A (p.Arg32999Lys)
c.98993G>A (p.Arg32998Lys)
c.98426G>A (p.Arg32809Lys)
c.95768G>A (p.Arg31923Lys)
c.95687G>A (p.Arg31896Lys)
c.77450G>A (p.Arg25817Lys)
c.67304G>A (p.Arg22435Lys)
 dbSNP gnomAD v4
2g.178532061T>ACA349411413TTN,TTN-AS1c.96850A>T (p.Arg32284Trp)
c.77935A>T (p.Arg25979Trp)
c.77734A>T (p.Arg25912Trp)
c.77359A>T (p.Arg25787Trp)
c.104554A>T (p.Arg34852Trp)
c.99631A>T (p.Arg33211Trp)
n.446+8425T>A
n.220-3671T>A
c.103651A>T (p.Arg34551Trp)
c.77545A>T (p.Arg25849Trp)
c.77404A>T (p.Arg25802Trp)
c.103447A>T (p.Arg34483Trp)
c.98845A>T (p.Arg32949Trp)
c.98842A>T (p.Arg32948Trp)
c.95884A>T (p.Arg31962Trp)
c.77500A>T (p.Arg25834Trp)
c.98995A>T (p.Arg32999Trp)
c.98992A>T (p.Arg32998Trp)
c.98425A>T (p.Arg32809Trp)
c.95767A>T (p.Arg31923Trp)
c.95686A>T (p.Arg31896Trp)
c.77449A>T (p.Arg25817Trp)
c.67303A>T (p.Arg22435Trp)
2g.178532061T>CCA349411414TTN,TTN-AS1c.96850A>G (p.Arg32284Gly)
c.77935A>G (p.Arg25979Gly)
c.77734A>G (p.Arg25912Gly)
c.77359A>G (p.Arg25787Gly)
c.104554A>G (p.Arg34852Gly)
c.99631A>G (p.Arg33211Gly)
n.446+8425T>C
n.220-3671T>C
c.103651A>G (p.Arg34551Gly)
c.77545A>G (p.Arg25849Gly)
c.77404A>G (p.Arg25802Gly)
c.103447A>G (p.Arg34483Gly)
c.98845A>G (p.Arg32949Gly)
c.98842A>G (p.Arg32948Gly)
c.95884A>G (p.Arg31962Gly)
c.77500A>G (p.Arg25834Gly)
c.98995A>G (p.Arg32999Gly)
c.98992A>G (p.Arg32998Gly)
c.98425A>G (p.Arg32809Gly)
c.95767A>G (p.Arg31923Gly)
c.95686A>G (p.Arg31896Gly)
c.77449A>G (p.Arg25817Gly)
c.67303A>G (p.Arg22435Gly)
 dbSNP
2g.178532061T>GCA430235813TTN,TTN-AS1c.96850A>C (p.Arg32284=)
c.77935A>C (p.Arg25979=)
c.77734A>C (p.Arg25912=)
c.77359A>C (p.Arg25787=)
c.104554A>C (p.Arg34852=)
c.99631A>C (p.Arg33211=)
n.446+8425T>G
n.220-3671T>G
c.103651A>C (p.Arg34551=)
c.77545A>C (p.Arg25849=)
c.77404A>C (p.Arg25802=)
c.103447A>C (p.Arg34483=)
c.98845A>C (p.Arg32949=)
c.98842A>C (p.Arg32948=)
c.95884A>C (p.Arg31962=)
c.77500A>C (p.Arg25834=)
c.98995A>C (p.Arg32999=)
c.98992A>C (p.Arg32998=)
c.98425A>C (p.Arg32809=)
c.95767A>C (p.Arg31923=)
c.95686A>C (p.Arg31896=)
c.77449A>C (p.Arg25817=)
c.67303A>C (p.Arg22435=)
2g.178532061T=CA1310518058TTN,TTN-AS1c.96850A= (p.Arg32284=)
c.77935A= (p.Arg25979=)
c.77734A= (p.Arg25912=)
c.77359A= (p.Arg25787=)
c.104554A= (p.Arg34852=)
c.99631A= (p.Arg33211=)
n.446+8425T=
n.220-3671T=
c.103651A= (p.Arg34551=)
c.77545A= (p.Arg25849=)
c.77404A= (p.Arg25802=)
c.103447A= (p.Arg34483=)
c.98845A= (p.Arg32949=)
c.98842A= (p.Arg32948=)
c.95884A= (p.Arg31962=)
c.77500A= (p.Arg25834=)
c.98995A= (p.Arg32999=)
c.98992A= (p.Arg32998=)
c.98425A= (p.Arg32809=)
c.95767A= (p.Arg31923=)
c.95686A= (p.Arg31896=)
c.77449A= (p.Arg25817=)
c.67303A= (p.Arg22435=)
2g.178532062C>ACA349411415TTN,TTN-AS1c.96849G>T (p.Met32283Ile)
c.77934G>T (p.Met25978Ile)
c.77733G>T (p.Met25911Ile)
c.77358G>T (p.Met25786Ile)
c.104553G>T (p.Met34851Ile)
c.99630G>T (p.Met33210Ile)
n.446+8426C>A
n.220-3670C>A
c.103650G>T (p.Met34550Ile)
c.77544G>T (p.Met25848Ile)
c.77403G>T (p.Met25801Ile)
c.103446G>T (p.Met34482Ile)
c.98844G>T (p.Met32948Ile)
c.98841G>T (p.Met32947Ile)
c.95883G>T (p.Met31961Ile)
c.77499G>T (p.Met25833Ile)
c.98994G>T (p.Met32998Ile)
c.98991G>T (p.Met32997Ile)
c.98424G>T (p.Met32808Ile)
c.95766G>T (p.Met31922Ile)
c.95685G>T (p.Met31895Ile)
c.77448G>T (p.Met25816Ile)
c.67302G>T (p.Met22434Ile)
2g.178532062C>GCA349411416TTN,TTN-AS1c.96849G>C (p.Met32283Ile)
c.77934G>C (p.Met25978Ile)
c.77733G>C (p.Met25911Ile)
c.77358G>C (p.Met25786Ile)
c.104553G>C (p.Met34851Ile)
c.99630G>C (p.Met33210Ile)
n.446+8426C>G
n.220-3670C>G
c.103650G>C (p.Met34550Ile)
c.77544G>C (p.Met25848Ile)
c.77403G>C (p.Met25801Ile)
c.103446G>C (p.Met34482Ile)
c.98844G>C (p.Met32948Ile)
c.98841G>C (p.Met32947Ile)
c.95883G>C (p.Met31961Ile)
c.77499G>C (p.Met25833Ile)
c.98994G>C (p.Met32998Ile)
c.98991G>C (p.Met32997Ile)
c.98424G>C (p.Met32808Ile)
c.95766G>C (p.Met31922Ile)
c.95685G>C (p.Met31895Ile)
c.77448G>C (p.Met25816Ile)
c.67302G>C (p.Met22434Ile)
2g.178532062C>TCA349411417TTN,TTN-AS1c.96849G>A (p.Met32283Ile)
c.77934G>A (p.Met25978Ile)
c.77733G>A (p.Met25911Ile)
c.77358G>A (p.Met25786Ile)
c.104553G>A (p.Met34851Ile)
c.99630G>A (p.Met33210Ile)
n.446+8426C>T
n.220-3670C>T
c.103650G>A (p.Met34550Ile)
c.77544G>A (p.Met25848Ile)
c.77403G>A (p.Met25801Ile)
c.103446G>A (p.Met34482Ile)
c.98844G>A (p.Met32948Ile)
c.98841G>A (p.Met32947Ile)
c.95883G>A (p.Met31961Ile)
c.77499G>A (p.Met25833Ile)
c.98994G>A (p.Met32998Ile)
c.98991G>A (p.Met32997Ile)
c.98424G>A (p.Met32808Ile)
c.95766G>A (p.Met31922Ile)
c.95685G>A (p.Met31895Ile)
c.77448G>A (p.Met25816Ile)
c.67302G>A (p.Met22434Ile)
 COSMIC COSMIC COSMIC
2g.178532063A>CCA349411418TTN,TTN-AS1c.96848T>G (p.Met32283Arg)
c.77933T>G (p.Met25978Arg)
c.77732T>G (p.Met25911Arg)
c.77357T>G (p.Met25786Arg)
c.104552T>G (p.Met34851Arg)
c.99629T>G (p.Met33210Arg)
n.446+8427A>C
n.220-3669A>C
c.103649T>G (p.Met34550Arg)
c.77543T>G (p.Met25848Arg)
c.77402T>G (p.Met25801Arg)
c.103445T>G (p.Met34482Arg)
c.98843T>G (p.Met32948Arg)
c.98840T>G (p.Met32947Arg)
c.95882T>G (p.Met31961Arg)
c.77498T>G (p.Met25833Arg)
c.98993T>G (p.Met32998Arg)
c.98990T>G (p.Met32997Arg)
c.98423T>G (p.Met32808Arg)
c.95765T>G (p.Met31922Arg)
c.95684T>G (p.Met31895Arg)
c.77447T>G (p.Met25816Arg)
c.67301T>G (p.Met22434Arg)
2g.178532063A>GCA349411419TTN,TTN-AS1c.96848T>C (p.Met32283Thr)
c.77933T>C (p.Met25978Thr)
c.77732T>C (p.Met25911Thr)
c.77357T>C (p.Met25786Thr)
c.104552T>C (p.Met34851Thr)
c.99629T>C (p.Met33210Thr)
n.446+8427A>G
n.220-3669A>G
c.103649T>C (p.Met34550Thr)
c.77543T>C (p.Met25848Thr)
c.77402T>C (p.Met25801Thr)
c.103445T>C (p.Met34482Thr)
c.98843T>C (p.Met32948Thr)
c.98840T>C (p.Met32947Thr)
c.95882T>C (p.Met31961Thr)
c.77498T>C (p.Met25833Thr)
c.98993T>C (p.Met32998Thr)
c.98990T>C (p.Met32997Thr)
c.98423T>C (p.Met32808Thr)
c.95765T>C (p.Met31922Thr)
c.95684T>C (p.Met31895Thr)
c.77447T>C (p.Met25816Thr)
c.67301T>C (p.Met22434Thr)
 gnomAD v4
2g.178532063A>TCA349411420TTN,TTN-AS1c.96848T>A (p.Met32283Lys)
c.77933T>A (p.Met25978Lys)
c.77732T>A (p.Met25911Lys)
c.77357T>A (p.Met25786Lys)
c.104552T>A (p.Met34851Lys)
c.99629T>A (p.Met33210Lys)
n.446+8427A>T
n.220-3669A>T
c.103649T>A (p.Met34550Lys)
c.77543T>A (p.Met25848Lys)
c.77402T>A (p.Met25801Lys)
c.103445T>A (p.Met34482Lys)
c.98843T>A (p.Met32948Lys)
c.98840T>A (p.Met32947Lys)
c.95882T>A (p.Met31961Lys)
c.77498T>A (p.Met25833Lys)
c.98993T>A (p.Met32998Lys)
c.98990T>A (p.Met32997Lys)
c.98423T>A (p.Met32808Lys)
c.95765T>A (p.Met31922Lys)
c.95684T>A (p.Met31895Lys)
c.77447T>A (p.Met25816Lys)
c.67301T>A (p.Met22434Lys)
2g.178532064T>ACA349411421TTN,TTN-AS1c.96847A>T (p.Met32283Leu)
c.77932A>T (p.Met25978Leu)
c.77731A>T (p.Met25911Leu)
c.77356A>T (p.Met25786Leu)
c.104551A>T (p.Met34851Leu)
c.99628A>T (p.Met33210Leu)
n.446+8428T>A
n.220-3668T>A
c.103648A>T (p.Met34550Leu)
c.77542A>T (p.Met25848Leu)
c.77401A>T (p.Met25801Leu)
c.103444A>T (p.Met34482Leu)
c.98842A>T (p.Met32948Leu)
c.98839A>T (p.Met32947Leu)
c.95881A>T (p.Met31961Leu)
c.77497A>T (p.Met25833Leu)
c.98992A>T (p.Met32998Leu)
c.98989A>T (p.Met32997Leu)
c.98422A>T (p.Met32808Leu)
c.95764A>T (p.Met31922Leu)
c.95683A>T (p.Met31895Leu)
c.77446A>T (p.Met25816Leu)
c.67300A>T (p.Met22434Leu)
2g.178532064T>CCA349411423TTN,TTN-AS1c.96847A>G (p.Met32283Val)
c.77932A>G (p.Met25978Val)
c.77731A>G (p.Met25911Val)
c.77356A>G (p.Met25786Val)
c.104551A>G (p.Met34851Val)
c.99628A>G (p.Met33210Val)
n.446+8428T>C
n.220-3668T>C
c.103648A>G (p.Met34550Val)
c.77542A>G (p.Met25848Val)
c.77401A>G (p.Met25801Val)
c.103444A>G (p.Met34482Val)
c.98842A>G (p.Met32948Val)
c.98839A>G (p.Met32947Val)
c.95881A>G (p.Met31961Val)
c.77497A>G (p.Met25833Val)
c.98992A>G (p.Met32998Val)
c.98989A>G (p.Met32997Val)
c.98422A>G (p.Met32808Val)
c.95764A>G (p.Met31922Val)
c.95683A>G (p.Met31895Val)
c.77446A>G (p.Met25816Val)
c.67300A>G (p.Met22434Val)
2g.178532064T>GCA349411422TTN,TTN-AS1c.96847A>C (p.Met32283Leu)
c.77932A>C (p.Met25978Leu)
c.77731A>C (p.Met25911Leu)
c.77356A>C (p.Met25786Leu)
c.104551A>C (p.Met34851Leu)
c.99628A>C (p.Met33210Leu)
n.446+8428T>G
n.220-3668T>G
c.103648A>C (p.Met34550Leu)
c.77542A>C (p.Met25848Leu)
c.77401A>C (p.Met25801Leu)
c.103444A>C (p.Met34482Leu)
c.98842A>C (p.Met32948Leu)
c.98839A>C (p.Met32947Leu)
c.95881A>C (p.Met31961Leu)
c.77497A>C (p.Met25833Leu)
c.98992A>C (p.Met32998Leu)
c.98989A>C (p.Met32997Leu)
c.98422A>C (p.Met32808Leu)
c.95764A>C (p.Met31922Leu)
c.95683A>C (p.Met31895Leu)
c.77446A>C (p.Met25816Leu)
c.67300A>C (p.Met22434Leu)
2g.178532065T>ACA349411424TTN,TTN-AS1c.96846A>T (p.Leu32282Phe)
c.77931A>T (p.Leu25977Phe)
c.77730A>T (p.Leu25910Phe)
c.77355A>T (p.Leu25785Phe)
c.104550A>T (p.Leu34850Phe)
c.99627A>T (p.Leu33209Phe)
n.446+8429T>A
n.220-3667T>A
c.103647A>T (p.Leu34549Phe)
c.77541A>T (p.Leu25847Phe)
c.77400A>T (p.Leu25800Phe)
c.103443A>T (p.Leu34481Phe)
c.98841A>T (p.Leu32947Phe)
c.98838A>T (p.Leu32946Phe)
c.95880A>T (p.Leu31960Phe)
c.77496A>T (p.Leu25832Phe)
c.98991A>T (p.Leu32997Phe)
c.98988A>T (p.Leu32996Phe)
c.98421A>T (p.Leu32807Phe)
c.95763A>T (p.Leu31921Phe)
c.95682A>T (p.Leu31894Phe)
c.77445A>T (p.Leu25815Phe)
c.67299A>T (p.Leu22433Phe)
2g.178532065T>CCA430235819TTN,TTN-AS1c.96846A>G (p.Leu32282=)
c.77931A>G (p.Leu25977=)
c.77730A>G (p.Leu25910=)
c.77355A>G (p.Leu25785=)
c.104550A>G (p.Leu34850=)
c.99627A>G (p.Leu33209=)
n.446+8429T>C
n.220-3667T>C
c.103647A>G (p.Leu34549=)
c.77541A>G (p.Leu25847=)
c.77400A>G (p.Leu25800=)
c.103443A>G (p.Leu34481=)
c.98841A>G (p.Leu32947=)
c.98838A>G (p.Leu32946=)
c.95880A>G (p.Leu31960=)
c.77496A>G (p.Leu25832=)
c.98991A>G (p.Leu32997=)
c.98988A>G (p.Leu32996=)
c.98421A>G (p.Leu32807=)
c.95763A>G (p.Leu31921=)
c.95682A>G (p.Leu31894=)
c.77445A>G (p.Leu25815=)
c.67299A>G (p.Leu22433=)
 ClinVar dbSNP
2g.178532065T>GCA349411425TTN,TTN-AS1c.96846A>C (p.Leu32282Phe)
c.77931A>C (p.Leu25977Phe)
c.77730A>C (p.Leu25910Phe)
c.77355A>C (p.Leu25785Phe)
c.104550A>C (p.Leu34850Phe)
c.99627A>C (p.Leu33209Phe)
n.446+8429T>G
n.220-3667T>G
c.103647A>C (p.Leu34549Phe)
c.77541A>C (p.Leu25847Phe)
c.77400A>C (p.Leu25800Phe)
c.103443A>C (p.Leu34481Phe)
c.98841A>C (p.Leu32947Phe)
c.98838A>C (p.Leu32946Phe)
c.95880A>C (p.Leu31960Phe)
c.77496A>C (p.Leu25832Phe)
c.98991A>C (p.Leu32997Phe)
c.98988A>C (p.Leu32996Phe)
c.98421A>C (p.Leu32807Phe)
c.95763A>C (p.Leu31921Phe)
c.95682A>C (p.Leu31894Phe)
c.77445A>C (p.Leu25815Phe)
c.67299A>C (p.Leu22433Phe)
2g.178532066A>CCA349411426TTN,TTN-AS1c.96845T>G (p.Leu32282Ter)
c.77930T>G (p.Leu25977Ter)
c.77729T>G (p.Leu25910Ter)
c.77354T>G (p.Leu25785Ter)
c.104549T>G (p.Leu34850Ter)
c.99626T>G (p.Leu33209Ter)
n.446+8430A>C
n.220-3666A>C
c.103646T>G (p.Leu34549Ter)
c.77540T>G (p.Leu25847Ter)
c.77399T>G (p.Leu25800Ter)
c.103442T>G (p.Leu34481Ter)
c.98840T>G (p.Leu32947Ter)
c.98837T>G (p.Leu32946Ter)
c.95879T>G (p.Leu31960Ter)
c.77495T>G (p.Leu25832Ter)
c.98990T>G (p.Leu32997Ter)
c.98987T>G (p.Leu32996Ter)
c.98420T>G (p.Leu32807Ter)
c.95762T>G (p.Leu31921Ter)
c.95681T>G (p.Leu31894Ter)
c.77444T>G (p.Leu25815Ter)
c.67298T>G (p.Leu22433Ter)
2g.178532066A>GCA349411427TTN,TTN-AS1c.96845T>C (p.Leu32282Ser)
c.77930T>C (p.Leu25977Ser)
c.77729T>C (p.Leu25910Ser)
c.77354T>C (p.Leu25785Ser)
c.104549T>C (p.Leu34850Ser)
c.99626T>C (p.Leu33209Ser)
n.446+8430A>G
n.220-3666A>G
c.103646T>C (p.Leu34549Ser)
c.77540T>C (p.Leu25847Ser)
c.77399T>C (p.Leu25800Ser)
c.103442T>C (p.Leu34481Ser)
c.98840T>C (p.Leu32947Ser)
c.98837T>C (p.Leu32946Ser)
c.95879T>C (p.Leu31960Ser)
c.77495T>C (p.Leu25832Ser)
c.98990T>C (p.Leu32997Ser)
c.98987T>C (p.Leu32996Ser)
c.98420T>C (p.Leu32807Ser)
c.95762T>C (p.Leu31921Ser)
c.95681T>C (p.Leu31894Ser)
c.77444T>C (p.Leu25815Ser)
c.67298T>C (p.Leu22433Ser)
2g.178532066A>TCA349411428TTN,TTN-AS1c.96845T>A (p.Leu32282Ter)
c.77930T>A (p.Leu25977Ter)
c.77729T>A (p.Leu25910Ter)
c.77354T>A (p.Leu25785Ter)
c.104549T>A (p.Leu34850Ter)
c.99626T>A (p.Leu33209Ter)
n.446+8430A>T
n.220-3666A>T
c.103646T>A (p.Leu34549Ter)
c.77540T>A (p.Leu25847Ter)
c.77399T>A (p.Leu25800Ter)
c.103442T>A (p.Leu34481Ter)
c.98840T>A (p.Leu32947Ter)
c.98837T>A (p.Leu32946Ter)
c.95879T>A (p.Leu31960Ter)
c.77495T>A (p.Leu25832Ter)
c.98990T>A (p.Leu32997Ter)
c.98987T>A (p.Leu32996Ter)
c.98420T>A (p.Leu32807Ter)
c.95762T>A (p.Leu31921Ter)
c.95681T>A (p.Leu31894Ter)
c.77444T>A (p.Leu25815Ter)
c.67298T>A (p.Leu22433Ter)
2g.178532067A=CA1310518059TTN,TTN-AS1c.96844T= (p.Leu32282=)
c.77929T= (p.Leu25977=)
c.77728T= (p.Leu25910=)
c.77353T= (p.Leu25785=)
c.104548T= (p.Leu34850=)
c.99625T= (p.Leu33209=)
n.446+8431A=
n.220-3665A=
c.103645T= (p.Leu34549=)
c.77539T= (p.Leu25847=)
c.77398T= (p.Leu25800=)
c.103441T= (p.Leu34481=)
c.98839T= (p.Leu32947=)
c.98836T= (p.Leu32946=)
c.95878T= (p.Leu31960=)
c.77494T= (p.Leu25832=)
c.98989T= (p.Leu32997=)
c.98986T= (p.Leu32996=)
c.98419T= (p.Leu32807=)
c.95761T= (p.Leu31921=)
c.95680T= (p.Leu31894=)
c.77443T= (p.Leu25815=)
c.67297T= (p.Leu22433=)
2g.178532067A>CCA349411429TTN,TTN-AS1c.96844T>G (p.Leu32282Val)
c.77929T>G (p.Leu25977Val)
c.77728T>G (p.Leu25910Val)
c.77353T>G (p.Leu25785Val)
c.104548T>G (p.Leu34850Val)
c.99625T>G (p.Leu33209Val)
n.446+8431A>C
n.220-3665A>C
c.103645T>G (p.Leu34549Val)
c.77539T>G (p.Leu25847Val)
c.77398T>G (p.Leu25800Val)
c.103441T>G (p.Leu34481Val)
c.98839T>G (p.Leu32947Val)
c.98836T>G (p.Leu32946Val)
c.95878T>G (p.Leu31960Val)
c.77494T>G (p.Leu25832Val)
c.98989T>G (p.Leu32997Val)
c.98986T>G (p.Leu32996Val)
c.98419T>G (p.Leu32807Val)
c.95761T>G (p.Leu31921Val)
c.95680T>G (p.Leu31894Val)
c.77443T>G (p.Leu25815Val)
c.67297T>G (p.Leu22433Val)
2g.178532067A>GCA430235822TTN,TTN-AS1c.96844T>C (p.Leu32282=)
c.77929T>C (p.Leu25977=)
c.77728T>C (p.Leu25910=)
c.77353T>C (p.Leu25785=)
c.104548T>C (p.Leu34850=)
c.99625T>C (p.Leu33209=)
n.446+8431A>G
n.220-3665A>G
c.103645T>C (p.Leu34549=)
c.77539T>C (p.Leu25847=)
c.77398T>C (p.Leu25800=)
c.103441T>C (p.Leu34481=)
c.98839T>C (p.Leu32947=)
c.98836T>C (p.Leu32946=)
c.95878T>C (p.Leu31960=)
c.77494T>C (p.Leu25832=)
c.98989T>C (p.Leu32997=)
c.98986T>C (p.Leu32996=)
c.98419T>C (p.Leu32807=)
c.95761T>C (p.Leu31921=)
c.95680T>C (p.Leu31894=)
c.77443T>C (p.Leu25815=)
c.67297T>C (p.Leu22433=)
2g.178532067A>TCA349411430TTN,TTN-AS1c.96844T>A (p.Leu32282Ile)
c.77929T>A (p.Leu25977Ile)
c.77728T>A (p.Leu25910Ile)
c.77353T>A (p.Leu25785Ile)
c.104548T>A (p.Leu34850Ile)
c.99625T>A (p.Leu33209Ile)
n.446+8431A>T
n.220-3665A>T
c.103645T>A (p.Leu34549Ile)
c.77539T>A (p.Leu25847Ile)
c.77398T>A (p.Leu25800Ile)
c.103441T>A (p.Leu34481Ile)
c.98839T>A (p.Leu32947Ile)
c.98836T>A (p.Leu32946Ile)
c.95878T>A (p.Leu31960Ile)
c.77494T>A (p.Leu25832Ile)
c.98989T>A (p.Leu32997Ile)
c.98986T>A (p.Leu32996Ile)
c.98419T>A (p.Leu32807Ile)
c.95761T>A (p.Leu31921Ile)
c.95680T>A (p.Leu31894Ile)
c.77443T>A (p.Leu25815Ile)
c.67297T>A (p.Leu22433Ile)
 dbSNP
2g.178532068C>ACA349411431TTN,TTN-AS1c.96843G>T (p.Glu32281Asp)
c.77928G>T (p.Glu25976Asp)
c.77727G>T (p.Glu25909Asp)
c.77352G>T (p.Glu25784Asp)
c.104547G>T (p.Glu34849Asp)
c.99624G>T (p.Glu33208Asp)
n.446+8432C>A
n.220-3664C>A
c.103644G>T (p.Glu34548Asp)
c.77538G>T (p.Glu25846Asp)
c.77397G>T (p.Glu25799Asp)
c.103440G>T (p.Glu34480Asp)
c.98838G>T (p.Glu32946Asp)
c.98835G>T (p.Glu32945Asp)
c.95877G>T (p.Glu31959Asp)
c.77493G>T (p.Glu25831Asp)
c.98988G>T (p.Glu32996Asp)
c.98985G>T (p.Glu32995Asp)
c.98418G>T (p.Glu32806Asp)
c.95760G>T (p.Glu31920Asp)
c.95679G>T (p.Glu31893Asp)
c.77442G>T (p.Glu25814Asp)
c.67296G>T (p.Glu22432Asp)
2g.178532068C=CA1310518060TTN,TTN-AS1c.96843G= (p.Glu32281=)
c.77928G= (p.Glu25976=)
c.77727G= (p.Glu25909=)
c.77352G= (p.Glu25784=)
c.104547G= (p.Glu34849=)
c.99624G= (p.Glu33208=)
n.446+8432C=
n.220-3664C=
c.103644G= (p.Glu34548=)
c.77538G= (p.Glu25846=)
c.77397G= (p.Glu25799=)
c.103440G= (p.Glu34480=)
c.98838G= (p.Glu32946=)
c.98835G= (p.Glu32945=)
c.95877G= (p.Glu31959=)
c.77493G= (p.Glu25831=)
c.98988G= (p.Glu32996=)
c.98985G= (p.Glu32995=)
c.98418G= (p.Glu32806=)
c.95760G= (p.Glu31920=)
c.95679G= (p.Glu31893=)
c.77442G= (p.Glu25814=)
c.67296G= (p.Glu22432=)
2g.178532068C>GCA349411432TTN,TTN-AS1c.96843G>C (p.Glu32281Asp)
c.77928G>C (p.Glu25976Asp)
c.77727G>C (p.Glu25909Asp)
c.77352G>C (p.Glu25784Asp)
c.104547G>C (p.Glu34849Asp)
c.99624G>C (p.Glu33208Asp)
n.446+8432C>G
n.220-3664C>G
c.103644G>C (p.Glu34548Asp)
c.77538G>C (p.Glu25846Asp)
c.77397G>C (p.Glu25799Asp)
c.103440G>C (p.Glu34480Asp)
c.98838G>C (p.Glu32946Asp)
c.98835G>C (p.Glu32945Asp)
c.95877G>C (p.Glu31959Asp)
c.77493G>C (p.Glu25831Asp)
c.98988G>C (p.Glu32996Asp)
c.98985G>C (p.Glu32995Asp)
c.98418G>C (p.Glu32806Asp)
c.95760G>C (p.Glu31920Asp)
c.95679G>C (p.Glu31893Asp)
c.77442G>C (p.Glu25814Asp)
c.67296G>C (p.Glu22432Asp)
 dbSNP gnomAD v3 gnomAD v4
2g.178532068C>TCA430235823TTN,TTN-AS1c.96843G>A (p.Glu32281=)
c.77928G>A (p.Glu25976=)
c.77727G>A (p.Glu25909=)
c.77352G>A (p.Glu25784=)
c.104547G>A (p.Glu34849=)
c.99624G>A (p.Glu33208=)
n.446+8432C>T
n.220-3664C>T
c.103644G>A (p.Glu34548=)
c.77538G>A (p.Glu25846=)
c.77397G>A (p.Glu25799=)
c.103440G>A (p.Glu34480=)
c.98838G>A (p.Glu32946=)
c.98835G>A (p.Glu32945=)
c.95877G>A (p.Glu31959=)
c.77493G>A (p.Glu25831=)
c.98988G>A (p.Glu32996=)
c.98985G>A (p.Glu32995=)
c.98418G>A (p.Glu32806=)
c.95760G>A (p.Glu31920=)
c.95679G>A (p.Glu31893=)
c.77442G>A (p.Glu25814=)
c.67296G>A (p.Glu22432=)
2g.178532069T>ACA349411433TTN,TTN-AS1c.96842A>T (p.Glu32281Val)
c.77927A>T (p.Glu25976Val)
c.77726A>T (p.Glu25909Val)
c.77351A>T (p.Glu25784Val)
c.104546A>T (p.Glu34849Val)
c.99623A>T (p.Glu33208Val)
n.446+8433T>A
n.220-3663T>A
c.103643A>T (p.Glu34548Val)
c.77537A>T (p.Glu25846Val)
c.77396A>T (p.Glu25799Val)
c.103439A>T (p.Glu34480Val)
c.98837A>T (p.Glu32946Val)
c.98834A>T (p.Glu32945Val)
c.95876A>T (p.Glu31959Val)
c.77492A>T (p.Glu25831Val)
c.98987A>T (p.Glu32996Val)
c.98984A>T (p.Glu32995Val)
c.98417A>T (p.Glu32806Val)
c.95759A>T (p.Glu31920Val)
c.95678A>T (p.Glu31893Val)
c.77441A>T (p.Glu25814Val)
c.67295A>T (p.Glu22432Val)
2g.178532069T>CCA349411434TTN,TTN-AS1c.96842A>G (p.Glu32281Gly)
c.77927A>G (p.Glu25976Gly)
c.77726A>G (p.Glu25909Gly)
c.77351A>G (p.Glu25784Gly)
c.104546A>G (p.Glu34849Gly)
c.99623A>G (p.Glu33208Gly)
n.446+8433T>C
n.220-3663T>C
c.103643A>G (p.Glu34548Gly)
c.77537A>G (p.Glu25846Gly)
c.77396A>G (p.Glu25799Gly)
c.103439A>G (p.Glu34480Gly)
c.98837A>G (p.Glu32946Gly)
c.98834A>G (p.Glu32945Gly)
c.95876A>G (p.Glu31959Gly)
c.77492A>G (p.Glu25831Gly)
c.98987A>G (p.Glu32996Gly)
c.98984A>G (p.Glu32995Gly)
c.98417A>G (p.Glu32806Gly)
c.95759A>G (p.Glu31920Gly)
c.95678A>G (p.Glu31893Gly)
c.77441A>G (p.Glu25814Gly)
c.67295A>G (p.Glu22432Gly)
2g.178532069T>GCA349411435TTN,TTN-AS1c.96842A>C (p.Glu32281Ala)
c.77927A>C (p.Glu25976Ala)
c.77726A>C (p.Glu25909Ala)
c.77351A>C (p.Glu25784Ala)
c.104546A>C (p.Glu34849Ala)
c.99623A>C (p.Glu33208Ala)
n.446+8433T>G
n.220-3663T>G
c.103643A>C (p.Glu34548Ala)
c.77537A>C (p.Glu25846Ala)
c.77396A>C (p.Glu25799Ala)
c.103439A>C (p.Glu34480Ala)
c.98837A>C (p.Glu32946Ala)
c.98834A>C (p.Glu32945Ala)
c.95876A>C (p.Glu31959Ala)
c.77492A>C (p.Glu25831Ala)
c.98987A>C (p.Glu32996Ala)
c.98984A>C (p.Glu32995Ala)
c.98417A>C (p.Glu32806Ala)
c.95759A>C (p.Glu31920Ala)
c.95678A>C (p.Glu31893Ala)
c.77441A>C (p.Glu25814Ala)
c.67295A>C (p.Glu22432Ala)
 ClinVar dbSNP
2g.178532069T=CA1310518061TTN,TTN-AS1c.96842A= (p.Glu32281=)
c.77927A= (p.Glu25976=)
c.77726A= (p.Glu25909=)
c.77351A= (p.Glu25784=)
c.104546A= (p.Glu34849=)
c.99623A= (p.Glu33208=)
n.446+8433T=
n.220-3663T=
c.103643A= (p.Glu34548=)
c.77537A= (p.Glu25846=)
c.77396A= (p.Glu25799=)
c.103439A= (p.Glu34480=)
c.98837A= (p.Glu32946=)
c.98834A= (p.Glu32945=)
c.95876A= (p.Glu31959=)
c.77492A= (p.Glu25831=)
c.98987A= (p.Glu32996=)
c.98984A= (p.Glu32995=)
c.98417A= (p.Glu32806=)
c.95759A= (p.Glu31920=)
c.95678A= (p.Glu31893=)
c.77441A= (p.Glu25814=)
c.67295A= (p.Glu22432=)
2g.178532070C>ACA349411436TTN,TTN-AS1c.96841G>T (p.Glu32281Ter)
c.77926G>T (p.Glu25976Ter)
c.77725G>T (p.Glu25909Ter)
c.77350G>T (p.Glu25784Ter)
c.104545G>T (p.Glu34849Ter)
c.99622G>T (p.Glu33208Ter)
n.446+8434C>A
n.220-3662C>A
c.103642G>T (p.Glu34548Ter)
c.77536G>T (p.Glu25846Ter)
c.77395G>T (p.Glu25799Ter)
c.103438G>T (p.Glu34480Ter)
c.98836G>T (p.Glu32946Ter)
c.98833G>T (p.Glu32945Ter)
c.95875G>T (p.Glu31959Ter)
c.77491G>T (p.Glu25831Ter)
c.98986G>T (p.Glu32996Ter)
c.98983G>T (p.Glu32995Ter)
c.98416G>T (p.Glu32806Ter)
c.95758G>T (p.Glu31920Ter)
c.95677G>T (p.Glu31893Ter)
c.77440G>T (p.Glu25814Ter)
c.67294G>T (p.Glu22432Ter)
2g.178532070C=CA1310518062TTN,TTN-AS1c.96841G= (p.Glu32281=)
c.77926G= (p.Glu25976=)
c.77725G= (p.Glu25909=)
c.77350G= (p.Glu25784=)
c.104545G= (p.Glu34849=)
c.99622G= (p.Glu33208=)
n.446+8434C=
n.220-3662C=
c.103642G= (p.Glu34548=)
c.77536G= (p.Glu25846=)
c.77395G= (p.Glu25799=)
c.103438G= (p.Glu34480=)
c.98836G= (p.Glu32946=)
c.98833G= (p.Glu32945=)
c.95875G= (p.Glu31959=)
c.77491G= (p.Glu25831=)
c.98986G= (p.Glu32996=)
c.98983G= (p.Glu32995=)
c.98416G= (p.Glu32806=)
c.95758G= (p.Glu31920=)
c.95677G= (p.Glu31893=)
c.77440G= (p.Glu25814=)
c.67294G= (p.Glu22432=)
2g.178532070C>GCA349411437TTN,TTN-AS1c.96841G>C (p.Glu32281Gln)
c.77926G>C (p.Glu25976Gln)
c.77725G>C (p.Glu25909Gln)
c.77350G>C (p.Glu25784Gln)
c.104545G>C (p.Glu34849Gln)
c.99622G>C (p.Glu33208Gln)
n.446+8434C>G
n.220-3662C>G
c.103642G>C (p.Glu34548Gln)
c.77536G>C (p.Glu25846Gln)
c.77395G>C (p.Glu25799Gln)
c.103438G>C (p.Glu34480Gln)
c.98836G>C (p.Glu32946Gln)
c.98833G>C (p.Glu32945Gln)
c.95875G>C (p.Glu31959Gln)
c.77491G>C (p.Glu25831Gln)
c.98986G>C (p.Glu32996Gln)
c.98983G>C (p.Glu32995Gln)
c.98416G>C (p.Glu32806Gln)
c.95758G>C (p.Glu31920Gln)
c.95677G>C (p.Glu31893Gln)
c.77440G>C (p.Glu25814Gln)
c.67294G>C (p.Glu22432Gln)
2g.178532070C>TCA1985404TTN,TTN-AS1c.96841G>A (p.Glu32281Lys)
c.77926G>A (p.Glu25976Lys)
c.77725G>A (p.Glu25909Lys)
c.77350G>A (p.Glu25784Lys)
c.104545G>A (p.Glu34849Lys)
c.99622G>A (p.Glu33208Lys)
n.446+8434C>T
n.220-3662C>T
c.103642G>A (p.Glu34548Lys)
c.77536G>A (p.Glu25846Lys)
c.77395G>A (p.Glu25799Lys)
c.103438G>A (p.Glu34480Lys)
c.98836G>A (p.Glu32946Lys)
c.98833G>A (p.Glu32945Lys)
c.95875G>A (p.Glu31959Lys)
c.77491G>A (p.Glu25831Lys)
c.98986G>A (p.Glu32996Lys)
c.98983G>A (p.Glu32995Lys)
c.98416G>A (p.Glu32806Lys)
c.95758G>A (p.Glu31920Lys)
c.95677G>A (p.Glu31893Lys)
c.77440G>A (p.Glu25814Lys)
c.67294G>A (p.Glu22432Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178532071A>CCA349411438TTN,TTN-AS1c.96840T>G (p.Ile32280Met)
c.77925T>G (p.Ile25975Met)
c.77724T>G (p.Ile25908Met)
c.77349T>G (p.Ile25783Met)
c.104544T>G (p.Ile34848Met)
c.99621T>G (p.Ile33207Met)
n.446+8435A>C
n.220-3661A>C
c.103641T>G (p.Ile34547Met)
c.77535T>G (p.Ile25845Met)
c.77394T>G (p.Ile25798Met)
c.103437T>G (p.Ile34479Met)
c.98835T>G (p.Ile32945Met)
c.98832T>G (p.Ile32944Met)
c.95874T>G (p.Ile31958Met)
c.77490T>G (p.Ile25830Met)
c.98985T>G (p.Ile32995Met)
c.98982T>G (p.Ile32994Met)
c.98415T>G (p.Ile32805Met)
c.95757T>G (p.Ile31919Met)
c.95676T>G (p.Ile31892Met)
c.77439T>G (p.Ile25813Met)
c.67293T>G (p.Ile22431Met)
 gnomAD v4
2g.178532071A>GCA430235828TTN,TTN-AS1c.96840T>C (p.Ile32280=)
c.77925T>C (p.Ile25975=)
c.77724T>C (p.Ile25908=)
c.77349T>C (p.Ile25783=)
c.104544T>C (p.Ile34848=)
c.99621T>C (p.Ile33207=)
n.446+8435A>G
n.220-3661A>G
c.103641T>C (p.Ile34547=)
c.77535T>C (p.Ile25845=)
c.77394T>C (p.Ile25798=)
c.103437T>C (p.Ile34479=)
c.98835T>C (p.Ile32945=)
c.98832T>C (p.Ile32944=)
c.95874T>C (p.Ile31958=)
c.77490T>C (p.Ile25830=)
c.98985T>C (p.Ile32995=)
c.98982T>C (p.Ile32994=)
c.98415T>C (p.Ile32805=)
c.95757T>C (p.Ile31919=)
c.95676T>C (p.Ile31892=)
c.77439T>C (p.Ile25813=)
c.67293T>C (p.Ile22431=)
 gnomAD v4
2g.178532071A>TCA430235829TTN,TTN-AS1c.96840T>A (p.Ile32280=)
c.77925T>A (p.Ile25975=)
c.77724T>A (p.Ile25908=)
c.77349T>A (p.Ile25783=)
c.104544T>A (p.Ile34848=)
c.99621T>A (p.Ile33207=)
n.446+8435A>T
n.220-3661A>T
c.103641T>A (p.Ile34547=)
c.77535T>A (p.Ile25845=)
c.77394T>A (p.Ile25798=)
c.103437T>A (p.Ile34479=)
c.98835T>A (p.Ile32945=)
c.98832T>A (p.Ile32944=)
c.95874T>A (p.Ile31958=)
c.77490T>A (p.Ile25830=)
c.98985T>A (p.Ile32995=)
c.98982T>A (p.Ile32994=)
c.98415T>A (p.Ile32805=)
c.95757T>A (p.Ile31919=)
c.95676T>A (p.Ile31892=)
c.77439T>A (p.Ile25813=)
c.67293T>A (p.Ile22431=)
2g.178532072A>CCA349411439TTN,TTN-AS1c.96839T>G (p.Ile32280Ser)
c.77924T>G (p.Ile25975Ser)
c.77723T>G (p.Ile25908Ser)
c.77348T>G (p.Ile25783Ser)
c.104543T>G (p.Ile34848Ser)
c.99620T>G (p.Ile33207Ser)
n.446+8436A>C
n.220-3660A>C
c.103640T>G (p.Ile34547Ser)
c.77534T>G (p.Ile25845Ser)
c.77393T>G (p.Ile25798Ser)
c.103436T>G (p.Ile34479Ser)
c.98834T>G (p.Ile32945Ser)
c.98831T>G (p.Ile32944Ser)
c.95873T>G (p.Ile31958Ser)
c.77489T>G (p.Ile25830Ser)
c.98984T>G (p.Ile32995Ser)
c.98981T>G (p.Ile32994Ser)
c.98414T>G (p.Ile32805Ser)
c.95756T>G (p.Ile31919Ser)
c.95675T>G (p.Ile31892Ser)
c.77438T>G (p.Ile25813Ser)
c.67292T>G (p.Ile22431Ser)
2g.178532072A>GCA349411440TTN,TTN-AS1c.96839T>C (p.Ile32280Thr)
c.77924T>C (p.Ile25975Thr)
c.77723T>C (p.Ile25908Thr)
c.77348T>C (p.Ile25783Thr)
c.104543T>C (p.Ile34848Thr)
c.99620T>C (p.Ile33207Thr)
n.446+8436A>G
n.220-3660A>G
c.103640T>C (p.Ile34547Thr)
c.77534T>C (p.Ile25845Thr)
c.77393T>C (p.Ile25798Thr)
c.103436T>C (p.Ile34479Thr)
c.98834T>C (p.Ile32945Thr)
c.98831T>C (p.Ile32944Thr)
c.95873T>C (p.Ile31958Thr)
c.77489T>C (p.Ile25830Thr)
c.98984T>C (p.Ile32995Thr)
c.98981T>C (p.Ile32994Thr)
c.98414T>C (p.Ile32805Thr)
c.95756T>C (p.Ile31919Thr)
c.95675T>C (p.Ile31892Thr)
c.77438T>C (p.Ile25813Thr)
c.67292T>C (p.Ile22431Thr)
 gnomAD v4
2g.178532072A>TCA349411441TTN,TTN-AS1c.96839T>A (p.Ile32280Asn)
c.77924T>A (p.Ile25975Asn)
c.77723T>A (p.Ile25908Asn)
c.77348T>A (p.Ile25783Asn)
c.104543T>A (p.Ile34848Asn)
c.99620T>A (p.Ile33207Asn)
n.446+8436A>T
n.220-3660A>T
c.103640T>A (p.Ile34547Asn)
c.77534T>A (p.Ile25845Asn)
c.77393T>A (p.Ile25798Asn)
c.103436T>A (p.Ile34479Asn)
c.98834T>A (p.Ile32945Asn)
c.98831T>A (p.Ile32944Asn)
c.95873T>A (p.Ile31958Asn)
c.77489T>A (p.Ile25830Asn)
c.98984T>A (p.Ile32995Asn)
c.98981T>A (p.Ile32994Asn)
c.98414T>A (p.Ile32805Asn)
c.95756T>A (p.Ile31919Asn)
c.95675T>A (p.Ile31892Asn)
c.77438T>A (p.Ile25813Asn)
c.67292T>A (p.Ile22431Asn)
2g.178532073T>ACA349411442TTN,TTN-AS1c.96838A>T (p.Ile32280Phe)
c.77923A>T (p.Ile25975Phe)
c.77722A>T (p.Ile25908Phe)
c.77347A>T (p.Ile25783Phe)
c.104542A>T (p.Ile34848Phe)
c.99619A>T (p.Ile33207Phe)
n.446+8437T>A
n.220-3659T>A
c.103639A>T (p.Ile34547Phe)
c.77533A>T (p.Ile25845Phe)
c.77392A>T (p.Ile25798Phe)
c.103435A>T (p.Ile34479Phe)
c.98833A>T (p.Ile32945Phe)
c.98830A>T (p.Ile32944Phe)
c.95872A>T (p.Ile31958Phe)
c.77488A>T (p.Ile25830Phe)
c.98983A>T (p.Ile32995Phe)
c.98980A>T (p.Ile32994Phe)
c.98413A>T (p.Ile32805Phe)
c.95755A>T (p.Ile31919Phe)
c.95674A>T (p.Ile31892Phe)
c.77437A>T (p.Ile25813Phe)
c.67291A>T (p.Ile22431Phe)
2g.178532073T>CCA349411443TTN,TTN-AS1c.96838A>G (p.Ile32280Val)
c.77923A>G (p.Ile25975Val)
c.77722A>G (p.Ile25908Val)
c.77347A>G (p.Ile25783Val)
c.104542A>G (p.Ile34848Val)
c.99619A>G (p.Ile33207Val)
n.446+8437T>C
n.220-3659T>C
c.103639A>G (p.Ile34547Val)
c.77533A>G (p.Ile25845Val)
c.77392A>G (p.Ile25798Val)
c.103435A>G (p.Ile34479Val)
c.98833A>G (p.Ile32945Val)
c.98830A>G (p.Ile32944Val)
c.95872A>G (p.Ile31958Val)
c.77488A>G (p.Ile25830Val)
c.98983A>G (p.Ile32995Val)
c.98980A>G (p.Ile32994Val)
c.98413A>G (p.Ile32805Val)
c.95755A>G (p.Ile31919Val)
c.95674A>G (p.Ile31892Val)
c.77437A>G (p.Ile25813Val)
c.67291A>G (p.Ile22431Val)
2g.178532073T>GCA349411444TTN,TTN-AS1c.96838A>C (p.Ile32280Leu)
c.77923A>C (p.Ile25975Leu)
c.77722A>C (p.Ile25908Leu)
c.77347A>C (p.Ile25783Leu)
c.104542A>C (p.Ile34848Leu)
c.99619A>C (p.Ile33207Leu)
n.446+8437T>G
n.220-3659T>G
c.103639A>C (p.Ile34547Leu)
c.77533A>C (p.Ile25845Leu)
c.77392A>C (p.Ile25798Leu)
c.103435A>C (p.Ile34479Leu)
c.98833A>C (p.Ile32945Leu)
c.98830A>C (p.Ile32944Leu)
c.95872A>C (p.Ile31958Leu)
c.77488A>C (p.Ile25830Leu)
c.98983A>C (p.Ile32995Leu)
c.98980A>C (p.Ile32994Leu)
c.98413A>C (p.Ile32805Leu)
c.95755A>C (p.Ile31919Leu)
c.95674A>C (p.Ile31892Leu)
c.77437A>C (p.Ile25813Leu)
c.67291A>C (p.Ile22431Leu)
2g.178532074A=CA1310518063TTN,TTN-AS1c.96837T= (p.Tyr32279=)
c.77922T= (p.Tyr25974=)
c.77721T= (p.Tyr25907=)
c.77346T= (p.Tyr25782=)
c.104541T= (p.Tyr34847=)
c.99618T= (p.Tyr33206=)
n.446+8438A=
n.220-3658A=
c.103638T= (p.Tyr34546=)
c.77532T= (p.Tyr25844=)
c.77391T= (p.Tyr25797=)
c.103434T= (p.Tyr34478=)
c.98832T= (p.Tyr32944=)
c.98829T= (p.Tyr32943=)
c.95871T= (p.Tyr31957=)
c.77487T= (p.Tyr25829=)
c.98982T= (p.Tyr32994=)
c.98979T= (p.Tyr32993=)
c.98412T= (p.Tyr32804=)
c.95754T= (p.Tyr31918=)
c.95673T= (p.Tyr31891=)
c.77436T= (p.Tyr25812=)
c.67290T= (p.Tyr22430=)
2g.178532074A>CCA349411445TTN,TTN-AS1c.96837T>G (p.Tyr32279Ter)
c.77922T>G (p.Tyr25974Ter)
c.77721T>G (p.Tyr25907Ter)
c.77346T>G (p.Tyr25782Ter)
c.104541T>G (p.Tyr34847Ter)
c.99618T>G (p.Tyr33206Ter)
n.446+8438A>C
n.220-3658A>C
c.103638T>G (p.Tyr34546Ter)
c.77532T>G (p.Tyr25844Ter)
c.77391T>G (p.Tyr25797Ter)
c.103434T>G (p.Tyr34478Ter)
c.98832T>G (p.Tyr32944Ter)
c.98829T>G (p.Tyr32943Ter)
c.95871T>G (p.Tyr31957Ter)
c.77487T>G (p.Tyr25829Ter)
c.98982T>G (p.Tyr32994Ter)
c.98979T>G (p.Tyr32993Ter)
c.98412T>G (p.Tyr32804Ter)
c.95754T>G (p.Tyr31918Ter)
c.95673T>G (p.Tyr31891Ter)
c.77436T>G (p.Tyr25812Ter)
c.67290T>G (p.Tyr22430Ter)
2g.178532074A>GCA1985405TTN,TTN-AS1c.96837T>C (p.Tyr32279=)
c.77922T>C (p.Tyr25974=)
c.77721T>C (p.Tyr25907=)
c.77346T>C (p.Tyr25782=)
c.104541T>C (p.Tyr34847=)
c.99618T>C (p.Tyr33206=)
n.446+8438A>G
n.220-3658A>G
c.103638T>C (p.Tyr34546=)
c.77532T>C (p.Tyr25844=)
c.77391T>C (p.Tyr25797=)
c.103434T>C (p.Tyr34478=)
c.98832T>C (p.Tyr32944=)
c.98829T>C (p.Tyr32943=)
c.95871T>C (p.Tyr31957=)
c.77487T>C (p.Tyr25829=)
c.98982T>C (p.Tyr32994=)
c.98979T>C (p.Tyr32993=)
c.98412T>C (p.Tyr32804=)
c.95754T>C (p.Tyr31918=)
c.95673T>C (p.Tyr31891=)
c.77436T>C (p.Tyr25812=)
c.67290T>C (p.Tyr22430=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.178532074A>TCA349411446TTN,TTN-AS1c.96837T>A (p.Tyr32279Ter)
c.77922T>A (p.Tyr25974Ter)
c.77721T>A (p.Tyr25907Ter)
c.77346T>A (p.Tyr25782Ter)
c.104541T>A (p.Tyr34847Ter)
c.99618T>A (p.Tyr33206Ter)
n.446+8438A>T
n.220-3658A>T
c.103638T>A (p.Tyr34546Ter)
c.77532T>A (p.Tyr25844Ter)
c.77391T>A (p.Tyr25797Ter)
c.103434T>A (p.Tyr34478Ter)
c.98832T>A (p.Tyr32944Ter)
c.98829T>A (p.Tyr32943Ter)
c.95871T>A (p.Tyr31957Ter)
c.77487T>A (p.Tyr25829Ter)
c.98982T>A (p.Tyr32994Ter)
c.98979T>A (p.Tyr32993Ter)
c.98412T>A (p.Tyr32804Ter)
c.95754T>A (p.Tyr31918Ter)
c.95673T>A (p.Tyr31891Ter)
c.77436T>A (p.Tyr25812Ter)
c.67290T>A (p.Tyr22430Ter)
2g.178532074_178532075insATATCA1985406TTN,TTN-AS1c.96836_96837insATAT (p.Tyr32279Ter)
c.77921_77922insATAT (p.Tyr25974Ter)
c.77720_77721insATAT (p.Tyr25907Ter)
c.77345_77346insATAT (p.Tyr25782Ter)
c.104540_104541insATAT (p.Tyr34847Ter)
c.99617_99618insATAT (p.Tyr33206Ter)
n.446+8438_446+8439insATAT
n.220-3658_220-3657insATAT
c.103637_103638insATAT (p.Tyr34546Ter)
c.77531_77532insATAT (p.Tyr25844Ter)
c.77390_77391insATAT (p.Tyr25797Ter)
c.103433_103434insATAT (p.Tyr34478Ter)
c.98831_98832insATAT (p.Tyr32944Ter)
c.98828_98829insATAT (p.Tyr32943Ter)
c.95870_95871insATAT (p.Tyr31957Ter)
c.77486_77487insATAT (p.Tyr25829Ter)
c.98981_98982insATAT (p.Tyr32994Ter)
c.98978_98979insATAT (p.Tyr32993Ter)
c.98411_98412insATAT (p.Tyr32804Ter)
c.95753_95754insATAT (p.Tyr31918Ter)
c.95672_95673insATAT (p.Tyr31891Ter)
c.77435_77436insATAT (p.Tyr25812Ter)
c.67289_67290insATAT (p.Tyr22430Ter)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178532075T>ACA349411447TTN,TTN-AS1c.96836A>T (p.Tyr32279Phe)
c.77921A>T (p.Tyr25974Phe)
c.77720A>T (p.Tyr25907Phe)
c.77345A>T (p.Tyr25782Phe)
c.104540A>T (p.Tyr34847Phe)
c.99617A>T (p.Tyr33206Phe)
n.446+8439T>A
n.220-3657T>A
c.103637A>T (p.Tyr34546Phe)
c.77531A>T (p.Tyr25844Phe)
c.77390A>T (p.Tyr25797Phe)
c.103433A>T (p.Tyr34478Phe)
c.98831A>T (p.Tyr32944Phe)
c.98828A>T (p.Tyr32943Phe)
c.95870A>T (p.Tyr31957Phe)
c.77486A>T (p.Tyr25829Phe)
c.98981A>T (p.Tyr32994Phe)
c.98978A>T (p.Tyr32993Phe)
c.98411A>T (p.Tyr32804Phe)
c.95753A>T (p.Tyr31918Phe)
c.95672A>T (p.Tyr31891Phe)
c.77435A>T (p.Tyr25812Phe)
c.67289A>T (p.Tyr22430Phe)
2g.178532075T>CCA349411448TTN,TTN-AS1c.96836A>G (p.Tyr32279Cys)
c.77921A>G (p.Tyr25974Cys)
c.77720A>G (p.Tyr25907Cys)
c.77345A>G (p.Tyr25782Cys)
c.104540A>G (p.Tyr34847Cys)
c.99617A>G (p.Tyr33206Cys)
n.446+8439T>C
n.220-3657T>C
c.103637A>G (p.Tyr34546Cys)
c.77531A>G (p.Tyr25844Cys)
c.77390A>G (p.Tyr25797Cys)
c.103433A>G (p.Tyr34478Cys)
c.98831A>G (p.Tyr32944Cys)
c.98828A>G (p.Tyr32943Cys)
c.95870A>G (p.Tyr31957Cys)
c.77486A>G (p.Tyr25829Cys)
c.98981A>G (p.Tyr32994Cys)
c.98978A>G (p.Tyr32993Cys)
c.98411A>G (p.Tyr32804Cys)
c.95753A>G (p.Tyr31918Cys)
c.95672A>G (p.Tyr31891Cys)
c.77435A>G (p.Tyr25812Cys)
c.67289A>G (p.Tyr22430Cys)
2g.178532075T>GCA349411449TTN,TTN-AS1c.96836A>C (p.Tyr32279Ser)
c.77921A>C (p.Tyr25974Ser)
c.77720A>C (p.Tyr25907Ser)
c.77345A>C (p.Tyr25782Ser)
c.104540A>C (p.Tyr34847Ser)
c.99617A>C (p.Tyr33206Ser)
n.446+8439T>G
n.220-3657T>G
c.103637A>C (p.Tyr34546Ser)
c.77531A>C (p.Tyr25844Ser)
c.77390A>C (p.Tyr25797Ser)
c.103433A>C (p.Tyr34478Ser)
c.98831A>C (p.Tyr32944Ser)
c.98828A>C (p.Tyr32943Ser)
c.95870A>C (p.Tyr31957Ser)
c.77486A>C (p.Tyr25829Ser)
c.98981A>C (p.Tyr32994Ser)
c.98978A>C (p.Tyr32993Ser)
c.98411A>C (p.Tyr32804Ser)
c.95753A>C (p.Tyr31918Ser)
c.95672A>C (p.Tyr31891Ser)
c.77435A>C (p.Tyr25812Ser)
c.67289A>C (p.Tyr22430Ser)
2g.178532076A=CA1310518064TTN,TTN-AS1c.96835T= (p.Tyr32279=)
c.77920T= (p.Tyr25974=)
c.77719T= (p.Tyr25907=)
c.77344T= (p.Tyr25782=)
c.104539T= (p.Tyr34847=)
c.99616T= (p.Tyr33206=)
n.446+8440A=
n.220-3656A=
c.103636T= (p.Tyr34546=)
c.77530T= (p.Tyr25844=)
c.77389T= (p.Tyr25797=)
c.103432T= (p.Tyr34478=)
c.98830T= (p.Tyr32944=)
c.98827T= (p.Tyr32943=)
c.95869T= (p.Tyr31957=)
c.77485T= (p.Tyr25829=)
c.98980T= (p.Tyr32994=)
c.98977T= (p.Tyr32993=)
c.98410T= (p.Tyr32804=)
c.95752T= (p.Tyr31918=)
c.95671T= (p.Tyr31891=)
c.77434T= (p.Tyr25812=)
c.67288T= (p.Tyr22430=)
2g.178532076A>CCA349411450TTN,TTN-AS1c.96835T>G (p.Tyr32279Asp)
c.77920T>G (p.Tyr25974Asp)
c.77719T>G (p.Tyr25907Asp)
c.77344T>G (p.Tyr25782Asp)
c.104539T>G (p.Tyr34847Asp)
c.99616T>G (p.Tyr33206Asp)
n.446+8440A>C
n.220-3656A>C
c.103636T>G (p.Tyr34546Asp)
c.77530T>G (p.Tyr25844Asp)
c.77389T>G (p.Tyr25797Asp)
c.103432T>G (p.Tyr34478Asp)
c.98830T>G (p.Tyr32944Asp)
c.98827T>G (p.Tyr32943Asp)
c.95869T>G (p.Tyr31957Asp)
c.77485T>G (p.Tyr25829Asp)
c.98980T>G (p.Tyr32994Asp)
c.98977T>G (p.Tyr32993Asp)
c.98410T>G (p.Tyr32804Asp)
c.95752T>G (p.Tyr31918Asp)
c.95671T>G (p.Tyr31891Asp)
c.77434T>G (p.Tyr25812Asp)
c.67288T>G (p.Tyr22430Asp)
2g.178532076A>GCA311190TTN,TTN-AS1c.96835T>C (p.Tyr32279His)
c.77920T>C (p.Tyr25974His)
c.77719T>C (p.Tyr25907His)
c.77344T>C (p.Tyr25782His)
c.104539T>C (p.Tyr34847His)
c.99616T>C (p.Tyr33206His)
n.446+8440A>G
n.220-3656A>G
c.103636T>C (p.Tyr34546His)
c.77530T>C (p.Tyr25844His)
c.77389T>C (p.Tyr25797His)
c.103432T>C (p.Tyr34478His)
c.98830T>C (p.Tyr32944His)
c.98827T>C (p.Tyr32943His)
c.95869T>C (p.Tyr31957His)
c.77485T>C (p.Tyr25829His)
c.98980T>C (p.Tyr32994His)
c.98977T>C (p.Tyr32993His)
c.98410T>C (p.Tyr32804His)
c.95752T>C (p.Tyr31918His)
c.95671T>C (p.Tyr31891His)
c.77434T>C (p.Tyr25812His)
c.67288T>C (p.Tyr22430His)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.178532076A>TCA349411451TTN,TTN-AS1c.96835T>A (p.Tyr32279Asn)
c.77920T>A (p.Tyr25974Asn)
c.77719T>A (p.Tyr25907Asn)
c.77344T>A (p.Tyr25782Asn)
c.104539T>A (p.Tyr34847Asn)
c.99616T>A (p.Tyr33206Asn)
n.446+8440A>T
n.220-3656A>T
c.103636T>A (p.Tyr34546Asn)
c.77530T>A (p.Tyr25844Asn)
c.77389T>A (p.Tyr25797Asn)
c.103432T>A (p.Tyr34478Asn)
c.98830T>A (p.Tyr32944Asn)
c.98827T>A (p.Tyr32943Asn)
c.95869T>A (p.Tyr31957Asn)
c.77485T>A (p.Tyr25829Asn)
c.98980T>A (p.Tyr32994Asn)
c.98977T>A (p.Tyr32993Asn)
c.98410T>A (p.Tyr32804Asn)
c.95752T>A (p.Tyr31918Asn)
c.95671T>A (p.Tyr31891Asn)
c.77434T>A (p.Tyr25812Asn)
c.67288T>A (p.Tyr22430Asn)
2g.178532077A=CA1310518065TTN,TTN-AS1c.96834T= (p.Thr32278=)
c.77919T= (p.Thr25973=)
c.77718T= (p.Thr25906=)
c.77343T= (p.Thr25781=)
c.104538T= (p.Thr34846=)
c.99615T= (p.Thr33205=)
n.446+8441A=
n.220-3655A=
c.103635T= (p.Thr34545=)
c.77529T= (p.Thr25843=)
c.77388T= (p.Thr25796=)
c.103431T= (p.Thr34477=)
c.98829T= (p.Thr32943=)
c.98826T= (p.Thr32942=)
c.95868T= (p.Thr31956=)
c.77484T= (p.Thr25828=)
c.98979T= (p.Thr32993=)
c.98976T= (p.Thr32992=)
c.98409T= (p.Thr32803=)
c.95751T= (p.Thr31917=)
c.95670T= (p.Thr31890=)
c.77433T= (p.Thr25811=)
c.67287T= (p.Thr22429=)
2g.178532077A>CCA430235832TTN,TTN-AS1c.96834T>G (p.Thr32278=)
c.77919T>G (p.Thr25973=)
c.77718T>G (p.Thr25906=)
c.77343T>G (p.Thr25781=)
c.104538T>G (p.Thr34846=)
c.99615T>G (p.Thr33205=)
n.446+8441A>C
n.220-3655A>C
c.103635T>G (p.Thr34545=)
c.77529T>G (p.Thr25843=)
c.77388T>G (p.Thr25796=)
c.103431T>G (p.Thr34477=)
c.98829T>G (p.Thr32943=)
c.98826T>G (p.Thr32942=)
c.95868T>G (p.Thr31956=)
c.77484T>G (p.Thr25828=)
c.98979T>G (p.Thr32993=)
c.98976T>G (p.Thr32992=)
c.98409T>G (p.Thr32803=)
c.95751T>G (p.Thr31917=)
c.95670T>G (p.Thr31890=)
c.77433T>G (p.Thr25811=)
c.67287T>G (p.Thr22429=)
2g.178532077A>GCA430235833TTN,TTN-AS1c.96834T>C (p.Thr32278=)
c.77919T>C (p.Thr25973=)
c.77718T>C (p.Thr25906=)
c.77343T>C (p.Thr25781=)
c.104538T>C (p.Thr34846=)
c.99615T>C (p.Thr33205=)
n.446+8441A>G
n.220-3655A>G
c.103635T>C (p.Thr34545=)
c.77529T>C (p.Thr25843=)
c.77388T>C (p.Thr25796=)
c.103431T>C (p.Thr34477=)
c.98829T>C (p.Thr32943=)
c.98826T>C (p.Thr32942=)
c.95868T>C (p.Thr31956=)
c.77484T>C (p.Thr25828=)
c.98979T>C (p.Thr32993=)
c.98976T>C (p.Thr32992=)
c.98409T>C (p.Thr32803=)
c.95751T>C (p.Thr31917=)
c.95670T>C (p.Thr31890=)
c.77433T>C (p.Thr25811=)
c.67287T>C (p.Thr22429=)
 dbSNP gnomAD v2 gnomAD v4
2g.178532077A>TCA430235834TTN,TTN-AS1c.96834T>A (p.Thr32278=)
c.77919T>A (p.Thr25973=)
c.77718T>A (p.Thr25906=)
c.77343T>A (p.Thr25781=)
c.104538T>A (p.Thr34846=)
c.99615T>A (p.Thr33205=)
n.446+8441A>T
n.220-3655A>T
c.103635T>A (p.Thr34545=)
c.77529T>A (p.Thr25843=)
c.77388T>A (p.Thr25796=)
c.103431T>A (p.Thr34477=)
c.98829T>A (p.Thr32943=)
c.98826T>A (p.Thr32942=)
c.95868T>A (p.Thr31956=)
c.77484T>A (p.Thr25828=)
c.98979T>A (p.Thr32993=)
c.98976T>A (p.Thr32992=)
c.98409T>A (p.Thr32803=)
c.95751T>A (p.Thr31917=)
c.95670T>A (p.Thr31890=)
c.77433T>A (p.Thr25811=)
c.67287T>A (p.Thr22429=)
2g.178532078G>ACA349411452TTN,TTN-AS1c.96833C>T (p.Thr32278Ile)
c.77918C>T (p.Thr25973Ile)
c.77717C>T (p.Thr25906Ile)
c.77342C>T (p.Thr25781Ile)
c.104537C>T (p.Thr34846Ile)
c.99614C>T (p.Thr33205Ile)
n.446+8442G>A
n.220-3654G>A
c.103634C>T (p.Thr34545Ile)
c.77528C>T (p.Thr25843Ile)
c.77387C>T (p.Thr25796Ile)
c.103430C>T (p.Thr34477Ile)
c.98828C>T (p.Thr32943Ile)
c.98825C>T (p.Thr32942Ile)
c.95867C>T (p.Thr31956Ile)
c.77483C>T (p.Thr25828Ile)
c.98978C>T (p.Thr32993Ile)
c.98975C>T (p.Thr32992Ile)
c.98408C>T (p.Thr32803Ile)
c.95750C>T (p.Thr31917Ile)
c.95669C>T (p.Thr31890Ile)
c.77432C>T (p.Thr25811Ile)
c.67286C>T (p.Thr22429Ile)
 dbSNP
2g.178532078G>CCA349411453TTN,TTN-AS1c.96833C>G (p.Thr32278Ser)
c.77918C>G (p.Thr25973Ser)
c.77717C>G (p.Thr25906Ser)
c.77342C>G (p.Thr25781Ser)
c.104537C>G (p.Thr34846Ser)
c.99614C>G (p.Thr33205Ser)
n.446+8442G>C
n.220-3654G>C
c.103634C>G (p.Thr34545Ser)
c.77528C>G (p.Thr25843Ser)
c.77387C>G (p.Thr25796Ser)
c.103430C>G (p.Thr34477Ser)
c.98828C>G (p.Thr32943Ser)
c.98825C>G (p.Thr32942Ser)
c.95867C>G (p.Thr31956Ser)
c.77483C>G (p.Thr25828Ser)
c.98978C>G (p.Thr32993Ser)
c.98975C>G (p.Thr32992Ser)
c.98408C>G (p.Thr32803Ser)
c.95750C>G (p.Thr31917Ser)
c.95669C>G (p.Thr31890Ser)
c.77432C>G (p.Thr25811Ser)
c.67286C>G (p.Thr22429Ser)
2g.178532078G=CA1310518066TTN,TTN-AS1c.96833C= (p.Thr32278=)
c.77918C= (p.Thr25973=)
c.77717C= (p.Thr25906=)
c.77342C= (p.Thr25781=)
c.104537C= (p.Thr34846=)
c.99614C= (p.Thr33205=)
n.446+8442G=
n.220-3654G=
c.103634C= (p.Thr34545=)
c.77528C= (p.Thr25843=)
c.77387C= (p.Thr25796=)
c.103430C= (p.Thr34477=)
c.98828C= (p.Thr32943=)
c.98825C= (p.Thr32942=)
c.95867C= (p.Thr31956=)
c.77483C= (p.Thr25828=)
c.98978C= (p.Thr32993=)
c.98975C= (p.Thr32992=)
c.98408C= (p.Thr32803=)
c.95750C= (p.Thr31917=)
c.95669C= (p.Thr31890=)
c.77432C= (p.Thr25811=)
c.67286C= (p.Thr22429=)
2g.178532078G>TCA349411454TTN,TTN-AS1c.96833C>A (p.Thr32278Asn)
c.77918C>A (p.Thr25973Asn)
c.77717C>A (p.Thr25906Asn)
c.77342C>A (p.Thr25781Asn)
c.104537C>A (p.Thr34846Asn)
c.99614C>A (p.Thr33205Asn)
n.446+8442G>T
n.220-3654G>T
c.103634C>A (p.Thr34545Asn)
c.77528C>A (p.Thr25843Asn)
c.77387C>A (p.Thr25796Asn)
c.103430C>A (p.Thr34477Asn)
c.98828C>A (p.Thr32943Asn)
c.98825C>A (p.Thr32942Asn)
c.95867C>A (p.Thr31956Asn)
c.77483C>A (p.Thr25828Asn)
c.98978C>A (p.Thr32993Asn)
c.98975C>A (p.Thr32992Asn)
c.98408C>A (p.Thr32803Asn)
c.95750C>A (p.Thr31917Asn)
c.95669C>A (p.Thr31890Asn)
c.77432C>A (p.Thr25811Asn)
c.67286C>A (p.Thr22429Asn)
2g.178532079T>ACA349411455TTN,TTN-AS1c.96832A>T (p.Thr32278Ser)
c.77917A>T (p.Thr25973Ser)
c.77716A>T (p.Thr25906Ser)
c.77341A>T (p.Thr25781Ser)
c.104536A>T (p.Thr34846Ser)
c.99613A>T (p.Thr33205Ser)
n.446+8443T>A
n.220-3653T>A
c.103633A>T (p.Thr34545Ser)
c.77527A>T (p.Thr25843Ser)
c.77386A>T (p.Thr25796Ser)
c.103429A>T (p.Thr34477Ser)
c.98827A>T (p.Thr32943Ser)
c.98824A>T (p.Thr32942Ser)
c.95866A>T (p.Thr31956Ser)
c.77482A>T (p.Thr25828Ser)
c.98977A>T (p.Thr32993Ser)
c.98974A>T (p.Thr32992Ser)
c.98407A>T (p.Thr32803Ser)
c.95749A>T (p.Thr31917Ser)
c.95668A>T (p.Thr31890Ser)
c.77431A>T (p.Thr25811Ser)
c.67285A>T (p.Thr22429Ser)
2g.178532079T>CCA349411456TTN,TTN-AS1c.96832A>G (p.Thr32278Ala)
c.77917A>G (p.Thr25973Ala)
c.77716A>G (p.Thr25906Ala)
c.77341A>G (p.Thr25781Ala)
c.104536A>G (p.Thr34846Ala)
c.99613A>G (p.Thr33205Ala)
n.446+8443T>C
n.220-3653T>C
c.103633A>G (p.Thr34545Ala)
c.77527A>G (p.Thr25843Ala)
c.77386A>G (p.Thr25796Ala)
c.103429A>G (p.Thr34477Ala)
c.98827A>G (p.Thr32943Ala)
c.98824A>G (p.Thr32942Ala)
c.95866A>G (p.Thr31956Ala)
c.77482A>G (p.Thr25828Ala)
c.98977A>G (p.Thr32993Ala)
c.98974A>G (p.Thr32992Ala)
c.98407A>G (p.Thr32803Ala)
c.95749A>G (p.Thr31917Ala)
c.95668A>G (p.Thr31890Ala)
c.77431A>G (p.Thr25811Ala)
c.67285A>G (p.Thr22429Ala)
 gnomAD v4
2g.178532079T>GCA349411457TTN,TTN-AS1c.96832A>C (p.Thr32278Pro)
c.77917A>C (p.Thr25973Pro)
c.77716A>C (p.Thr25906Pro)
c.77341A>C (p.Thr25781Pro)
c.104536A>C (p.Thr34846Pro)
c.99613A>C (p.Thr33205Pro)
n.446+8443T>G
n.220-3653T>G
c.103633A>C (p.Thr34545Pro)
c.77527A>C (p.Thr25843Pro)
c.77386A>C (p.Thr25796Pro)
c.103429A>C (p.Thr34477Pro)
c.98827A>C (p.Thr32943Pro)
c.98824A>C (p.Thr32942Pro)
c.95866A>C (p.Thr31956Pro)
c.77482A>C (p.Thr25828Pro)
c.98977A>C (p.Thr32993Pro)
c.98974A>C (p.Thr32992Pro)
c.98407A>C (p.Thr32803Pro)
c.95749A>C (p.Thr31917Pro)
c.95668A>C (p.Thr31890Pro)
c.77431A>C (p.Thr25811Pro)
c.67285A>C (p.Thr22429Pro)
2g.178532080T>ACA430235836TTN,TTN-AS1c.96831A>T (p.Pro32277=)
c.77916A>T (p.Pro25972=)
c.77715A>T (p.Pro25905=)
c.77340A>T (p.Pro25780=)
c.104535A>T (p.Pro34845=)
c.99612A>T (p.Pro33204=)
n.446+8444T>A
n.220-3652T>A
c.103632A>T (p.Pro34544=)
c.77526A>T (p.Pro25842=)
c.77385A>T (p.Pro25795=)
c.103428A>T (p.Pro34476=)
c.98826A>T (p.Pro32942=)
c.98823A>T (p.Pro32941=)
c.95865A>T (p.Pro31955=)
c.77481A>T (p.Pro25827=)
c.98976A>T (p.Pro32992=)
c.98973A>T (p.Pro32991=)
c.98406A>T (p.Pro32802=)
c.95748A>T (p.Pro31916=)
c.95667A>T (p.Pro31889=)
c.77430A>T (p.Pro25810=)
c.67284A>T (p.Pro22428=)
2g.178532080T>CCA1985407TTN,TTN-AS1c.96831A>G (p.Pro32277=)
c.77916A>G (p.Pro25972=)
c.77715A>G (p.Pro25905=)
c.77340A>G (p.Pro25780=)
c.104535A>G (p.Pro34845=)
c.99612A>G (p.Pro33204=)
n.446+8444T>C
n.220-3652T>C
c.103632A>G (p.Pro34544=)
c.77526A>G (p.Pro25842=)
c.77385A>G (p.Pro25795=)
c.103428A>G (p.Pro34476=)
c.98826A>G (p.Pro32942=)
c.98823A>G (p.Pro32941=)
c.95865A>G (p.Pro31955=)
c.77481A>G (p.Pro25827=)
c.98976A>G (p.Pro32992=)
c.98973A>G (p.Pro32991=)
c.98406A>G (p.Pro32802=)
c.95748A>G (p.Pro31916=)
c.95667A>G (p.Pro31889=)
c.77430A>G (p.Pro25810=)
c.67284A>G (p.Pro22428=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.178532080T>GCA430235837TTN,TTN-AS1c.96831A>C (p.Pro32277=)
c.77916A>C (p.Pro25972=)
c.77715A>C (p.Pro25905=)
c.77340A>C (p.Pro25780=)
c.104535A>C (p.Pro34845=)
c.99612A>C (p.Pro33204=)
n.446+8444T>G
n.220-3652T>G
c.103632A>C (p.Pro34544=)
c.77526A>C (p.Pro25842=)
c.77385A>C (p.Pro25795=)
c.103428A>C (p.Pro34476=)
c.98826A>C (p.Pro32942=)
c.98823A>C (p.Pro32941=)
c.95865A>C (p.Pro31955=)
c.77481A>C (p.Pro25827=)
c.98976A>C (p.Pro32992=)
c.98973A>C (p.Pro32991=)
c.98406A>C (p.Pro32802=)
c.95748A>C (p.Pro31916=)
c.95667A>C (p.Pro31889=)
c.77430A>C (p.Pro25810=)
c.67284A>C (p.Pro22428=)
2g.178532080T=CA1310518067TTN,TTN-AS1c.96831A= (p.Pro32277=)
c.77916A= (p.Pro25972=)
c.77715A= (p.Pro25905=)
c.77340A= (p.Pro25780=)
c.104535A= (p.Pro34845=)
c.99612A= (p.Pro33204=)
n.446+8444T=
n.220-3652T=
c.103632A= (p.Pro34544=)
c.77526A= (p.Pro25842=)
c.77385A= (p.Pro25795=)
c.103428A= (p.Pro34476=)
c.98826A= (p.Pro32942=)
c.98823A= (p.Pro32941=)
c.95865A= (p.Pro31955=)
c.77481A= (p.Pro25827=)
c.98976A= (p.Pro32992=)
c.98973A= (p.Pro32991=)
c.98406A= (p.Pro32802=)
c.95748A= (p.Pro31916=)
c.95667A= (p.Pro31889=)
c.77430A= (p.Pro25810=)
c.67284A= (p.Pro22428=)
2g.178532081G>ACA1985408TTN,TTN-AS1c.96830C>T (p.Pro32277Leu)
c.77915C>T (p.Pro25972Leu)
c.77714C>T (p.Pro25905Leu)
c.77339C>T (p.Pro25780Leu)
c.104534C>T (p.Pro34845Leu)
c.99611C>T (p.Pro33204Leu)
n.446+8445G>A
n.220-3651G>A
c.103631C>T (p.Pro34544Leu)
c.77525C>T (p.Pro25842Leu)
c.77384C>T (p.Pro25795Leu)
c.103427C>T (p.Pro34476Leu)
c.98825C>T (p.Pro32942Leu)
c.98822C>T (p.Pro32941Leu)
c.95864C>T (p.Pro31955Leu)
c.77480C>T (p.Pro25827Leu)
c.98975C>T (p.Pro32992Leu)
c.98972C>T (p.Pro32991Leu)
c.98405C>T (p.Pro32802Leu)
c.95747C>T (p.Pro31916Leu)
c.95666C>T (p.Pro31889Leu)
c.77429C>T (p.Pro25810Leu)
c.67283C>T (p.Pro22428Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178532081G>CCA349411458TTN,TTN-AS1c.96830C>G (p.Pro32277Arg)
c.77915C>G (p.Pro25972Arg)
c.77714C>G (p.Pro25905Arg)
c.77339C>G (p.Pro25780Arg)
c.104534C>G (p.Pro34845Arg)
c.99611C>G (p.Pro33204Arg)
n.446+8445G>C
n.220-3651G>C
c.103631C>G (p.Pro34544Arg)
c.77525C>G (p.Pro25842Arg)
c.77384C>G (p.Pro25795Arg)
c.103427C>G (p.Pro34476Arg)
c.98825C>G (p.Pro32942Arg)
c.98822C>G (p.Pro32941Arg)
c.95864C>G (p.Pro31955Arg)
c.77480C>G (p.Pro25827Arg)
c.98975C>G (p.Pro32992Arg)
c.98972C>G (p.Pro32991Arg)
c.98405C>G (p.Pro32802Arg)
c.95747C>G (p.Pro31916Arg)
c.95666C>G (p.Pro31889Arg)
c.77429C>G (p.Pro25810Arg)
c.67283C>G (p.Pro22428Arg)
2g.178532081G=CA1310518068TTN,TTN-AS1c.96830C= (p.Pro32277=)
c.77915C= (p.Pro25972=)
c.77714C= (p.Pro25905=)
c.77339C= (p.Pro25780=)
c.104534C= (p.Pro34845=)
c.99611C= (p.Pro33204=)
n.446+8445G=
n.220-3651G=
c.103631C= (p.Pro34544=)
c.77525C= (p.Pro25842=)
c.77384C= (p.Pro25795=)
c.103427C= (p.Pro34476=)
c.98825C= (p.Pro32942=)
c.98822C= (p.Pro32941=)
c.95864C= (p.Pro31955=)
c.77480C= (p.Pro25827=)
c.98975C= (p.Pro32992=)
c.98972C= (p.Pro32991=)
c.98405C= (p.Pro32802=)
c.95747C= (p.Pro31916=)
c.95666C= (p.Pro31889=)
c.77429C= (p.Pro25810=)
c.67283C= (p.Pro22428=)
2g.178532081G>TCA349411459TTN,TTN-AS1c.96830C>A (p.Pro32277Gln)
c.77915C>A (p.Pro25972Gln)
c.77714C>A (p.Pro25905Gln)
c.77339C>A (p.Pro25780Gln)
c.104534C>A (p.Pro34845Gln)
c.99611C>A (p.Pro33204Gln)
n.446+8445G>T
n.220-3651G>T
c.103631C>A (p.Pro34544Gln)
c.77525C>A (p.Pro25842Gln)
c.77384C>A (p.Pro25795Gln)
c.103427C>A (p.Pro34476Gln)
c.98825C>A (p.Pro32942Gln)
c.98822C>A (p.Pro32941Gln)
c.95864C>A (p.Pro31955Gln)
c.77480C>A (p.Pro25827Gln)
c.98975C>A (p.Pro32992Gln)
c.98972C>A (p.Pro32991Gln)
c.98405C>A (p.Pro32802Gln)
c.95747C>A (p.Pro31916Gln)
c.95666C>A (p.Pro31889Gln)
c.77429C>A (p.Pro25810Gln)
c.67283C>A (p.Pro22428Gln)
2g.178532082G>ACA349411460TTN,TTN-AS1c.96829C>T (p.Pro32277Ser)
c.77914C>T (p.Pro25972Ser)
c.77713C>T (p.Pro25905Ser)
c.77338C>T (p.Pro25780Ser)
c.104533C>T (p.Pro34845Ser)
c.99610C>T (p.Pro33204Ser)
n.446+8446G>A
n.220-3650G>A
c.103630C>T (p.Pro34544Ser)
c.77524C>T (p.Pro25842Ser)
c.77383C>T (p.Pro25795Ser)
c.103426C>T (p.Pro34476Ser)
c.98824C>T (p.Pro32942Ser)
c.98821C>T (p.Pro32941Ser)
c.95863C>T (p.Pro31955Ser)
c.77479C>T (p.Pro25827Ser)
c.98974C>T (p.Pro32992Ser)
c.98971C>T (p.Pro32991Ser)
c.98404C>T (p.Pro32802Ser)
c.95746C>T (p.Pro31916Ser)
c.95665C>T (p.Pro31889Ser)
c.77428C>T (p.Pro25810Ser)
c.67282C>T (p.Pro22428Ser)
2g.178532082G>CCA349411462TTN,TTN-AS1c.96829C>G (p.Pro32277Ala)
c.77914C>G (p.Pro25972Ala)
c.77713C>G (p.Pro25905Ala)
c.77338C>G (p.Pro25780Ala)
c.104533C>G (p.Pro34845Ala)
c.99610C>G (p.Pro33204Ala)
n.446+8446G>C
n.220-3650G>C
c.103630C>G (p.Pro34544Ala)
c.77524C>G (p.Pro25842Ala)
c.77383C>G (p.Pro25795Ala)
c.103426C>G (p.Pro34476Ala)
c.98824C>G (p.Pro32942Ala)
c.98821C>G (p.Pro32941Ala)
c.95863C>G (p.Pro31955Ala)
c.77479C>G (p.Pro25827Ala)
c.98974C>G (p.Pro32992Ala)
c.98971C>G (p.Pro32991Ala)
c.98404C>G (p.Pro32802Ala)
c.95746C>G (p.Pro31916Ala)
c.95665C>G (p.Pro31889Ala)
c.77428C>G (p.Pro25810Ala)
c.67282C>G (p.Pro22428Ala)
2g.178532082G>TCA349411461TTN,TTN-AS1c.96829C>A (p.Pro32277Thr)
c.77914C>A (p.Pro25972Thr)
c.77713C>A (p.Pro25905Thr)
c.77338C>A (p.Pro25780Thr)
c.104533C>A (p.Pro34845Thr)
c.99610C>A (p.Pro33204Thr)
n.446+8446G>T
n.220-3650G>T
c.103630C>A (p.Pro34544Thr)
c.77524C>A (p.Pro25842Thr)
c.77383C>A (p.Pro25795Thr)
c.103426C>A (p.Pro34476Thr)
c.98824C>A (p.Pro32942Thr)
c.98821C>A (p.Pro32941Thr)
c.95863C>A (p.Pro31955Thr)
c.77479C>A (p.Pro25827Thr)
c.98974C>A (p.Pro32992Thr)
c.98971C>A (p.Pro32991Thr)
c.98404C>A (p.Pro32802Thr)
c.95746C>A (p.Pro31916Thr)
c.95665C>A (p.Pro31889Thr)
c.77428C>A (p.Pro25810Thr)
c.67282C>A (p.Pro22428Thr)
2g.178532083A>CCA430235841TTN,TTN-AS1c.96828T>G (p.Ser32276=)
c.77913T>G (p.Ser25971=)
c.77712T>G (p.Ser25904=)
c.77337T>G (p.Ser25779=)
c.104532T>G (p.Ser34844=)
c.99609T>G (p.Ser33203=)
n.446+8447A>C
n.220-3649A>C
c.103629T>G (p.Ser34543=)
c.77523T>G (p.Ser25841=)
c.77382T>G (p.Ser25794=)
c.103425T>G (p.Ser34475=)
c.98823T>G (p.Ser32941=)
c.98820T>G (p.Ser32940=)
c.95862T>G (p.Ser31954=)
c.77478T>G (p.Ser25826=)
c.98973T>G (p.Ser32991=)
c.98970T>G (p.Ser32990=)
c.98403T>G (p.Ser32801=)
c.95745T>G (p.Ser31915=)
c.95664T>G (p.Ser31888=)
c.77427T>G (p.Ser25809=)
c.67281T>G (p.Ser22427=)
2g.178532083A>GCA430235842TTN,TTN-AS1c.96828T>C (p.Ser32276=)
c.77913T>C (p.Ser25971=)
c.77712T>C (p.Ser25904=)
c.77337T>C (p.Ser25779=)
c.104532T>C (p.Ser34844=)
c.99609T>C (p.Ser33203=)
n.446+8447A>G
n.220-3649A>G
c.103629T>C (p.Ser34543=)
c.77523T>C (p.Ser25841=)
c.77382T>C (p.Ser25794=)
c.103425T>C (p.Ser34475=)
c.98823T>C (p.Ser32941=)
c.98820T>C (p.Ser32940=)
c.95862T>C (p.Ser31954=)
c.77478T>C (p.Ser25826=)
c.98973T>C (p.Ser32991=)
c.98970T>C (p.Ser32990=)
c.98403T>C (p.Ser32801=)
c.95745T>C (p.Ser31915=)
c.95664T>C (p.Ser31888=)
c.77427T>C (p.Ser25809=)
c.67281T>C (p.Ser22427=)
2g.178532083A>TCA430235843TTN,TTN-AS1c.96828T>A (p.Ser32276=)
c.77913T>A (p.Ser25971=)
c.77712T>A (p.Ser25904=)
c.77337T>A (p.Ser25779=)
c.104532T>A (p.Ser34844=)
c.99609T>A (p.Ser33203=)
n.446+8447A>T
n.220-3649A>T
c.103629T>A (p.Ser34543=)
c.77523T>A (p.Ser25841=)
c.77382T>A (p.Ser25794=)
c.103425T>A (p.Ser34475=)
c.98823T>A (p.Ser32941=)
c.98820T>A (p.Ser32940=)
c.95862T>A (p.Ser31954=)
c.77478T>A (p.Ser25826=)
c.98973T>A (p.Ser32991=)
c.98970T>A (p.Ser32990=)
c.98403T>A (p.Ser32801=)
c.95745T>A (p.Ser31915=)
c.95664T>A (p.Ser31888=)
c.77427T>A (p.Ser25809=)
c.67281T>A (p.Ser22427=)
2g.178532084G>ACA1985409TTN,TTN-AS1c.96827C>T (p.Ser32276Phe)
c.77912C>T (p.Ser25971Phe)
c.77711C>T (p.Ser25904Phe)
c.77336C>T (p.Ser25779Phe)
c.104531C>T (p.Ser34844Phe)
c.99608C>T (p.Ser33203Phe)
n.446+8448G>A
n.220-3648G>A
c.103628C>T (p.Ser34543Phe)
c.77522C>T (p.Ser25841Phe)
c.77381C>T (p.Ser25794Phe)
c.103424C>T (p.Ser34475Phe)
c.98822C>T (p.Ser32941Phe)
c.98819C>T (p.Ser32940Phe)
c.95861C>T (p.Ser31954Phe)
c.77477C>T (p.Ser25826Phe)
c.98972C>T (p.Ser32991Phe)
c.98969C>T (p.Ser32990Phe)
c.98402C>T (p.Ser32801Phe)
c.95744C>T (p.Ser31915Phe)
c.95663C>T (p.Ser31888Phe)
c.77426C>T (p.Ser25809Phe)
c.67280C>T (p.Ser22427Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.178532084G>CCA349411464TTN,TTN-AS1c.96827C>G (p.Ser32276Cys)
c.77912C>G (p.Ser25971Cys)
c.77711C>G (p.Ser25904Cys)
c.77336C>G (p.Ser25779Cys)
c.104531C>G (p.Ser34844Cys)
c.99608C>G (p.Ser33203Cys)
n.446+8448G>C
n.220-3648G>C
c.103628C>G (p.Ser34543Cys)
c.77522C>G (p.Ser25841Cys)
c.77381C>G (p.Ser25794Cys)
c.103424C>G (p.Ser34475Cys)
c.98822C>G (p.Ser32941Cys)
c.98819C>G (p.Ser32940Cys)
c.95861C>G (p.Ser31954Cys)
c.77477C>G (p.Ser25826Cys)
c.98972C>G (p.Ser32991Cys)
c.98969C>G (p.Ser32990Cys)
c.98402C>G (p.Ser32801Cys)
c.95744C>G (p.Ser31915Cys)
c.95663C>G (p.Ser31888Cys)
c.77426C>G (p.Ser25809Cys)
c.67280C>G (p.Ser22427Cys)
 gnomAD v4
2g.178532084G=CA1310518069TTN,TTN-AS1c.96827C= (p.Ser32276=)
c.77912C= (p.Ser25971=)
c.77711C= (p.Ser25904=)
c.77336C= (p.Ser25779=)
c.104531C= (p.Ser34844=)
c.99608C= (p.Ser33203=)
n.446+8448G=
n.220-3648G=
c.103628C= (p.Ser34543=)
c.77522C= (p.Ser25841=)
c.77381C= (p.Ser25794=)
c.103424C= (p.Ser34475=)
c.98822C= (p.Ser32941=)
c.98819C= (p.Ser32940=)
c.95861C= (p.Ser31954=)
c.77477C= (p.Ser25826=)
c.98972C= (p.Ser32991=)
c.98969C= (p.Ser32990=)
c.98402C= (p.Ser32801=)
c.95744C= (p.Ser31915=)
c.95663C= (p.Ser31888=)
c.77426C= (p.Ser25809=)
c.67280C= (p.Ser22427=)
2g.178532084G>TCA349411463TTN,TTN-AS1c.96827C>A (p.Ser32276Tyr)
c.77912C>A (p.Ser25971Tyr)
c.77711C>A (p.Ser25904Tyr)
c.77336C>A (p.Ser25779Tyr)
c.104531C>A (p.Ser34844Tyr)
c.99608C>A (p.Ser33203Tyr)
n.446+8448G>T
n.220-3648G>T
c.103628C>A (p.Ser34543Tyr)
c.77522C>A (p.Ser25841Tyr)
c.77381C>A (p.Ser25794Tyr)
c.103424C>A (p.Ser34475Tyr)
c.98822C>A (p.Ser32941Tyr)
c.98819C>A (p.Ser32940Tyr)
c.95861C>A (p.Ser31954Tyr)
c.77477C>A (p.Ser25826Tyr)
c.98972C>A (p.Ser32991Tyr)
c.98969C>A (p.Ser32990Tyr)
c.98402C>A (p.Ser32801Tyr)
c.95744C>A (p.Ser31915Tyr)
c.95663C>A (p.Ser31888Tyr)
c.77426C>A (p.Ser25809Tyr)
c.67280C>A (p.Ser22427Tyr)
2g.178532085A>CCA349411465TTN,TTN-AS1c.96826T>G (p.Ser32276Ala)
c.77911T>G (p.Ser25971Ala)
c.77710T>G (p.Ser25904Ala)
c.77335T>G (p.Ser25779Ala)
c.104530T>G (p.Ser34844Ala)
c.99607T>G (p.Ser33203Ala)
n.446+8449A>C
n.220-3647A>C
c.103627T>G (p.Ser34543Ala)
c.77521T>G (p.Ser25841Ala)
c.77380T>G (p.Ser25794Ala)
c.103423T>G (p.Ser34475Ala)
c.98821T>G (p.Ser32941Ala)
c.98818T>G (p.Ser32940Ala)
c.95860T>G (p.Ser31954Ala)
c.77476T>G (p.Ser25826Ala)
c.98971T>G (p.Ser32991Ala)
c.98968T>G (p.Ser32990Ala)
c.98401T>G (p.Ser32801Ala)
c.95743T>G (p.Ser31915Ala)
c.95662T>G (p.Ser31888Ala)
c.77425T>G (p.Ser25809Ala)
c.67279T>G (p.Ser22427Ala)
2g.178532085A>GCA349411466TTN,TTN-AS1c.96826T>C (p.Ser32276Pro)
c.77911T>C (p.Ser25971Pro)
c.77710T>C (p.Ser25904Pro)
c.77335T>C (p.Ser25779Pro)
c.104530T>C (p.Ser34844Pro)
c.99607T>C (p.Ser33203Pro)
n.446+8449A>G
n.220-3647A>G
c.103627T>C (p.Ser34543Pro)
c.77521T>C (p.Ser25841Pro)
c.77380T>C (p.Ser25794Pro)
c.103423T>C (p.Ser34475Pro)
c.98821T>C (p.Ser32941Pro)
c.98818T>C (p.Ser32940Pro)
c.95860T>C (p.Ser31954Pro)
c.77476T>C (p.Ser25826Pro)
c.98971T>C (p.Ser32991Pro)
c.98968T>C (p.Ser32990Pro)
c.98401T>C (p.Ser32801Pro)
c.95743T>C (p.Ser31915Pro)
c.95662T>C (p.Ser31888Pro)
c.77425T>C (p.Ser25809Pro)
c.67279T>C (p.Ser22427Pro)
2g.178532085A>TCA349411467TTN,TTN-AS1c.96826T>A (p.Ser32276Thr)
c.77911T>A (p.Ser25971Thr)
c.77710T>A (p.Ser25904Thr)
c.77335T>A (p.Ser25779Thr)
c.104530T>A (p.Ser34844Thr)
c.99607T>A (p.Ser33203Thr)
n.446+8449A>T
n.220-3647A>T
c.103627T>A (p.Ser34543Thr)
c.77521T>A (p.Ser25841Thr)
c.77380T>A (p.Ser25794Thr)
c.103423T>A (p.Ser34475Thr)
c.98821T>A (p.Ser32941Thr)
c.98818T>A (p.Ser32940Thr)
c.95860T>A (p.Ser31954Thr)
c.77476T>A (p.Ser25826Thr)
c.98971T>A (p.Ser32991Thr)
c.98968T>A (p.Ser32990Thr)
c.98401T>A (p.Ser32801Thr)
c.95743T>A (p.Ser31915Thr)
c.95662T>A (p.Ser31888Thr)
c.77425T>A (p.Ser25809Thr)
c.67279T>A (p.Ser22427Thr)
2g.178532086C>ACA430235848TTN,TTN-AS1c.96825G>T (p.Leu32275=)
c.77910G>T (p.Leu25970=)
c.77709G>T (p.Leu25903=)
c.77334G>T (p.Leu25778=)
c.104529G>T (p.Leu34843=)
c.99606G>T (p.Leu33202=)
n.446+8450C>A
n.220-3646C>A
c.103626G>T (p.Leu34542=)
c.77520G>T (p.Leu25840=)
c.77379G>T (p.Leu25793=)
c.103422G>T (p.Leu34474=)
c.98820G>T (p.Leu32940=)
c.98817G>T (p.Leu32939=)
c.95859G>T (p.Leu31953=)
c.77475G>T (p.Leu25825=)
c.98970G>T (p.Leu32990=)
c.98967G>T (p.Leu32989=)
c.98400G>T (p.Leu32800=)
c.95742G>T (p.Leu31914=)
c.95661G>T (p.Leu31887=)
c.77424G>T (p.Leu25808=)
c.67278G>T (p.Leu22426=)
 ClinVar dbSNP
2g.178532086C=CA1310518070TTN,TTN-AS1c.96825G= (p.Leu32275=)
c.77910G= (p.Leu25970=)
c.77709G= (p.Leu25903=)
c.77334G= (p.Leu25778=)
c.104529G= (p.Leu34843=)
c.99606G= (p.Leu33202=)
n.446+8450C=
n.220-3646C=
c.103626G= (p.Leu34542=)
c.77520G= (p.Leu25840=)
c.77379G= (p.Leu25793=)
c.103422G= (p.Leu34474=)
c.98820G= (p.Leu32940=)
c.98817G= (p.Leu32939=)
c.95859G= (p.Leu31953=)
c.77475G= (p.Leu25825=)
c.98970G= (p.Leu32990=)
c.98967G= (p.Leu32989=)
c.98400G= (p.Leu32800=)
c.95742G= (p.Leu31914=)
c.95661G= (p.Leu31887=)
c.77424G= (p.Leu25808=)
c.67278G= (p.Leu22426=)
2g.178532086C>GCA430235846TTN,TTN-AS1c.96825G>C (p.Leu32275=)
c.77910G>C (p.Leu25970=)
c.77709G>C (p.Leu25903=)
c.77334G>C (p.Leu25778=)
c.104529G>C (p.Leu34843=)
c.99606G>C (p.Leu33202=)
n.446+8450C>G
n.220-3646C>G
c.103626G>C (p.Leu34542=)
c.77520G>C (p.Leu25840=)
c.77379G>C (p.Leu25793=)
c.103422G>C (p.Leu34474=)
c.98820G>C (p.Leu32940=)
c.98817G>C (p.Leu32939=)
c.95859G>C (p.Leu31953=)
c.77475G>C (p.Leu25825=)
c.98970G>C (p.Leu32990=)
c.98967G>C (p.Leu32989=)
c.98400G>C (p.Leu32800=)
c.95742G>C (p.Leu31914=)
c.95661G>C (p.Leu31887=)
c.77424G>C (p.Leu25808=)
c.67278G>C (p.Leu22426=)
2g.178532086C>TCA430235844TTN,TTN-AS1c.96825G>A (p.Leu32275=)
c.77910G>A (p.Leu25970=)
c.77709G>A (p.Leu25903=)
c.77334G>A (p.Leu25778=)
c.104529G>A (p.Leu34843=)
c.99606G>A (p.Leu33202=)
n.446+8450C>T
n.220-3646C>T
c.103626G>A (p.Leu34542=)
c.77520G>A (p.Leu25840=)
c.77379G>A (p.Leu25793=)
c.103422G>A (p.Leu34474=)
c.98820G>A (p.Leu32940=)
c.98817G>A (p.Leu32939=)
c.95859G>A (p.Leu31953=)
c.77475G>A (p.Leu25825=)
c.98970G>A (p.Leu32990=)
c.98967G>A (p.Leu32989=)
c.98400G>A (p.Leu32800=)
c.95742G>A (p.Leu31914=)
c.95661G>A (p.Leu31887=)
c.77424G>A (p.Leu25808=)
c.67278G>A (p.Leu22426=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.178532087A>CCA349411468TTN,TTN-AS1c.96824T>G (p.Leu32275Arg)
c.77909T>G (p.Leu25970Arg)
c.77708T>G (p.Leu25903Arg)
c.77333T>G (p.Leu25778Arg)
c.104528T>G (p.Leu34843Arg)
c.99605T>G (p.Leu33202Arg)
n.446+8451A>C
n.220-3645A>C
c.103625T>G (p.Leu34542Arg)
c.77519T>G (p.Leu25840Arg)
c.77378T>G (p.Leu25793Arg)
c.103421T>G (p.Leu34474Arg)
c.98819T>G (p.Leu32940Arg)
c.98816T>G (p.Leu32939Arg)
c.95858T>G (p.Leu31953Arg)
c.77474T>G (p.Leu25825Arg)
c.98969T>G (p.Leu32990Arg)
c.98966T>G (p.Leu32989Arg)
c.98399T>G (p.Leu32800Arg)
c.95741T>G (p.Leu31914Arg)
c.95660T>G (p.Leu31887Arg)
c.77423T>G (p.Leu25808Arg)
c.67277T>G (p.Leu22426Arg)
2g.178532087A>GCA349411469TTN,TTN-AS1c.96824T>C (p.Leu32275Pro)
c.77909T>C (p.Leu25970Pro)
c.77708T>C (p.Leu25903Pro)
c.77333T>C (p.Leu25778Pro)
c.104528T>C (p.Leu34843Pro)
c.99605T>C (p.Leu33202Pro)
n.446+8451A>G
n.220-3645A>G
c.103625T>C (p.Leu34542Pro)
c.77519T>C (p.Leu25840Pro)
c.77378T>C (p.Leu25793Pro)
c.103421T>C (p.Leu34474Pro)
c.98819T>C (p.Leu32940Pro)
c.98816T>C (p.Leu32939Pro)
c.95858T>C (p.Leu31953Pro)
c.77474T>C (p.Leu25825Pro)
c.98969T>C (p.Leu32990Pro)
c.98966T>C (p.Leu32989Pro)
c.98399T>C (p.Leu32800Pro)
c.95741T>C (p.Leu31914Pro)
c.95660T>C (p.Leu31887Pro)
c.77423T>C (p.Leu25808Pro)
c.67277T>C (p.Leu22426Pro)
2g.178532087A>TCA349411470TTN,TTN-AS1c.96824T>A (p.Leu32275Gln)
c.77909T>A (p.Leu25970Gln)
c.77708T>A (p.Leu25903Gln)
c.77333T>A (p.Leu25778Gln)
c.104528T>A (p.Leu34843Gln)
c.99605T>A (p.Leu33202Gln)
n.446+8451A>T
n.220-3645A>T
c.103625T>A (p.Leu34542Gln)
c.77519T>A (p.Leu25840Gln)
c.77378T>A (p.Leu25793Gln)
c.103421T>A (p.Leu34474Gln)
c.98819T>A (p.Leu32940Gln)
c.98816T>A (p.Leu32939Gln)
c.95858T>A (p.Leu31953Gln)
c.77474T>A (p.Leu25825Gln)
c.98969T>A (p.Leu32990Gln)
c.98966T>A (p.Leu32989Gln)
c.98399T>A (p.Leu32800Gln)
c.95741T>A (p.Leu31914Gln)
c.95660T>A (p.Leu31887Gln)
c.77423T>A (p.Leu25808Gln)
c.67277T>A (p.Leu22426Gln)
2g.178532087_178532088delCA2662123639TTN,TTN-AS1c.96823_96824del (p.Leu32275ValfsTer6)
c.77908_77909del (p.Leu25970ValfsTer6)
c.77707_77708del (p.Leu25903ValfsTer6)
c.77332_77333del (p.Leu25778ValfsTer6)
c.104527_104528del (p.Leu34843ValfsTer6)
c.99604_99605del (p.Leu33202ValfsTer6)
n.446+8451_446+8452del
n.220-3645_220-3644del
c.103624_103625del (p.Leu34542ValfsTer6)
c.77518_77519del (p.Leu25840ValfsTer6)
c.77377_77378del (p.Leu25793ValfsTer6)
c.103420_103421del (p.Leu34474ValfsTer6)
c.98818_98819del (p.Leu32940ValfsTer6)
c.98815_98816del (p.Leu32939ValfsTer6)
c.95857_95858del (p.Leu31953ValfsTer6)
c.77473_77474del (p.Leu25825ValfsTer6)
c.98968_98969del (p.Leu32990ValfsTer6)
c.98965_98966del (p.Leu32989ValfsTer6)
c.98398_98399del (p.Leu32800ValfsTer6)
c.95740_95741del (p.Leu31914ValfsTer6)
c.95659_95660del (p.Leu31887ValfsTer6)
c.77422_77423del (p.Leu25808ValfsTer6)
c.67276_67277del (p.Leu22426ValfsTer6)
 gnomAD v4
2g.178532088G>ACA60956148TTN,TTN-AS1c.96823C>T (p.Leu32275=)
c.77908C>T (p.Leu25970=)
c.77707C>T (p.Leu25903=)
c.77332C>T (p.Leu25778=)
c.104527C>T (p.Leu34843=)
c.99604C>T (p.Leu33202=)
n.446+8452G>A
n.220-3644G>A
c.103624C>T (p.Leu34542=)
c.77518C>T (p.Leu25840=)
c.77377C>T (p.Leu25793=)
c.103420C>T (p.Leu34474=)
c.98818C>T (p.Leu32940=)
c.98815C>T (p.Leu32939=)
c.95857C>T (p.Leu31953=)
c.77473C>T (p.Leu25825=)
c.98968C>T (p.Leu32990=)
c.98965C>T (p.Leu32989=)
c.98398C>T (p.Leu32800=)
c.95740C>T (p.Leu31914=)
c.95659C>T (p.Leu31887=)
c.77422C>T (p.Leu25808=)
c.67276C>T (p.Leu22426=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.178532088G>CCA349411471TTN,TTN-AS1c.96823C>G (p.Leu32275Val)
c.77908C>G (p.Leu25970Val)
c.77707C>G (p.Leu25903Val)
c.77332C>G (p.Leu25778Val)
c.104527C>G (p.Leu34843Val)
c.99604C>G (p.Leu33202Val)
n.446+8452G>C
n.220-3644G>C
c.103624C>G (p.Leu34542Val)
c.77518C>G (p.Leu25840Val)
c.77377C>G (p.Leu25793Val)
c.103420C>G (p.Leu34474Val)
c.98818C>G (p.Leu32940Val)
c.98815C>G (p.Leu32939Val)
c.95857C>G (p.Leu31953Val)
c.77473C>G (p.Leu25825Val)
c.98968C>G (p.Leu32990Val)
c.98965C>G (p.Leu32989Val)
c.98398C>G (p.Leu32800Val)
c.95740C>G (p.Leu31914Val)
c.95659C>G (p.Leu31887Val)
c.77422C>G (p.Leu25808Val)
c.67276C>G (p.Leu22426Val)
2g.178532088G=CA1310518071TTN,TTN-AS1c.96823C= (p.Leu32275=)
c.77908C= (p.Leu25970=)
c.77707C= (p.Leu25903=)
c.77332C= (p.Leu25778=)
c.104527C= (p.Leu34843=)
c.99604C= (p.Leu33202=)
n.446+8452G=
n.220-3644G=
c.103624C= (p.Leu34542=)
c.77518C= (p.Leu25840=)
c.77377C= (p.Leu25793=)
c.103420C= (p.Leu34474=)
c.98818C= (p.Leu32940=)
c.98815C= (p.Leu32939=)
c.95857C= (p.Leu31953=)
c.77473C= (p.Leu25825=)
c.98968C= (p.Leu32990=)
c.98965C= (p.Leu32989=)
c.98398C= (p.Leu32800=)
c.95740C= (p.Leu31914=)
c.95659C= (p.Leu31887=)
c.77422C= (p.Leu25808=)
c.67276C= (p.Leu22426=)
2g.178532088G>TCA349411472TTN,TTN-AS1c.96823C>A (p.Leu32275Met)
c.77908C>A (p.Leu25970Met)
c.77707C>A (p.Leu25903Met)
c.77332C>A (p.Leu25778Met)
c.104527C>A (p.Leu34843Met)
c.99604C>A (p.Leu33202Met)
n.446+8452G>T
n.220-3644G>T
c.103624C>A (p.Leu34542Met)
c.77518C>A (p.Leu25840Met)
c.77377C>A (p.Leu25793Met)
c.103420C>A (p.Leu34474Met)
c.98818C>A (p.Leu32940Met)
c.98815C>A (p.Leu32939Met)
c.95857C>A (p.Leu31953Met)
c.77473C>A (p.Leu25825Met)
c.98968C>A (p.Leu32990Met)
c.98965C>A (p.Leu32989Met)
c.98398C>A (p.Leu32800Met)
c.95740C>A (p.Leu31914Met)
c.95659C>A (p.Leu31887Met)
c.77422C>A (p.Leu25808Met)
c.67276C>A (p.Leu22426Met)
2g.178532089G>ACA430235850TTN,TTN-AS1c.96822C>T (p.Ser32274=)
c.77907C>T (p.Ser25969=)
c.77706C>T (p.Ser25902=)
c.77331C>T (p.Ser25777=)
c.104526C>T (p.Ser34842=)
c.99603C>T (p.Ser33201=)
n.446+8453G>A
n.220-3643G>A
c.103623C>T (p.Ser34541=)
c.77517C>T (p.Ser25839=)
c.77376C>T (p.Ser25792=)
c.103419C>T (p.Ser34473=)
c.98817C>T (p.Ser32939=)
c.98814C>T (p.Ser32938=)
c.95856C>T (p.Ser31952=)
c.77472C>T (p.Ser25824=)
c.98967C>T (p.Ser32989=)
c.98964C>T (p.Ser32988=)
c.98397C>T (p.Ser32799=)
c.95739C>T (p.Ser31913=)
c.95658C>T (p.Ser31886=)
c.77421C>T (p.Ser25807=)
c.67275C>T (p.Ser22425=)
2g.178532089G>CCA430235851TTN,TTN-AS1c.96822C>G (p.Ser32274=)
c.77907C>G (p.Ser25969=)
c.77706C>G (p.Ser25902=)
c.77331C>G (p.Ser25777=)
c.104526C>G (p.Ser34842=)
c.99603C>G (p.Ser33201=)
n.446+8453G>C
n.220-3643G>C
c.103623C>G (p.Ser34541=)
c.77517C>G (p.Ser25839=)
c.77376C>G (p.Ser25792=)
c.103419C>G (p.Ser34473=)
c.98817C>G (p.Ser32939=)
c.98814C>G (p.Ser32938=)
c.95856C>G (p.Ser31952=)
c.77472C>G (p.Ser25824=)
c.98967C>G (p.Ser32989=)
c.98964C>G (p.Ser32988=)
c.98397C>G (p.Ser32799=)
c.95739C>G (p.Ser31913=)
c.95658C>G (p.Ser31886=)
c.77421C>G (p.Ser25807=)
c.67275C>G (p.Ser22425=)
2g.178532089G>TCA430235852TTN,TTN-AS1c.96822C>A (p.Ser32274=)
c.77907C>A (p.Ser25969=)
c.77706C>A (p.Ser25902=)
c.77331C>A (p.Ser25777=)
c.104526C>A (p.Ser34842=)
c.99603C>A (p.Ser33201=)
n.446+8453G>T
n.220-3643G>T
c.103623C>A (p.Ser34541=)
c.77517C>A (p.Ser25839=)
c.77376C>A (p.Ser25792=)
c.103419C>A (p.Ser34473=)
c.98817C>A (p.Ser32939=)
c.98814C>A (p.Ser32938=)
c.95856C>A (p.Ser31952=)
c.77472C>A (p.Ser25824=)
c.98967C>A (p.Ser32989=)
c.98964C>A (p.Ser32988=)
c.98397C>A (p.Ser32799=)
c.95739C>A (p.Ser31913=)
c.95658C>A (p.Ser31886=)
c.77421C>A (p.Ser25807=)
c.67275C>A (p.Ser22425=)
2g.178532090G>ACA349411473TTN,TTN-AS1c.96821C>T (p.Ser32274Phe)
c.77906C>T (p.Ser25969Phe)
c.77705C>T (p.Ser25902Phe)
c.77330C>T (p.Ser25777Phe)
c.104525C>T (p.Ser34842Phe)
c.99602C>T (p.Ser33201Phe)
n.446+8454G>A
n.220-3642G>A
c.103622C>T (p.Ser34541Phe)
c.77516C>T (p.Ser25839Phe)
c.77375C>T (p.Ser25792Phe)
c.103418C>T (p.Ser34473Phe)
c.98816C>T (p.Ser32939Phe)
c.98813C>T (p.Ser32938Phe)
c.95855C>T (p.Ser31952Phe)
c.77471C>T (p.Ser25824Phe)
c.98966C>T (p.Ser32989Phe)
c.98963C>T (p.Ser32988Phe)
c.98396C>T (p.Ser32799Phe)
c.95738C>T (p.Ser31913Phe)
c.95657C>T (p.Ser31886Phe)
c.77420C>T (p.Ser25807Phe)
c.67274C>T (p.Ser22425Phe)
2g.178532090G>CCA349411474TTN,TTN-AS1c.96821C>G (p.Ser32274Cys)
c.77906C>G (p.Ser25969Cys)
c.77705C>G (p.Ser25902Cys)
c.77330C>G (p.Ser25777Cys)
c.104525C>G (p.Ser34842Cys)
c.99602C>G (p.Ser33201Cys)
n.446+8454G>C
n.220-3642G>C
c.103622C>G (p.Ser34541Cys)
c.77516C>G (p.Ser25839Cys)
c.77375C>G (p.Ser25792Cys)
c.103418C>G (p.Ser34473Cys)
c.98816C>G (p.Ser32939Cys)
c.98813C>G (p.Ser32938Cys)
c.95855C>G (p.Ser31952Cys)
c.77471C>G (p.Ser25824Cys)
c.98966C>G (p.Ser32989Cys)
c.98963C>G (p.Ser32988Cys)
c.98396C>G (p.Ser32799Cys)
c.95738C>G (p.Ser31913Cys)
c.95657C>G (p.Ser31886Cys)
c.77420C>G (p.Ser25807Cys)
c.67274C>G (p.Ser22425Cys)
2g.178532090G>TCA349411475TTN,TTN-AS1c.96821C>A (p.Ser32274Tyr)
c.77906C>A (p.Ser25969Tyr)
c.77705C>A (p.Ser25902Tyr)
c.77330C>A (p.Ser25777Tyr)
c.104525C>A (p.Ser34842Tyr)
c.99602C>A (p.Ser33201Tyr)
n.446+8454G>T
n.220-3642G>T
c.103622C>A (p.Ser34541Tyr)
c.77516C>A (p.Ser25839Tyr)
c.77375C>A (p.Ser25792Tyr)
c.103418C>A (p.Ser34473Tyr)
c.98816C>A (p.Ser32939Tyr)
c.98813C>A (p.Ser32938Tyr)
c.95855C>A (p.Ser31952Tyr)
c.77471C>A (p.Ser25824Tyr)
c.98966C>A (p.Ser32989Tyr)
c.98963C>A (p.Ser32988Tyr)
c.98396C>A (p.Ser32799Tyr)
c.95738C>A (p.Ser31913Tyr)
c.95657C>A (p.Ser31886Tyr)
c.77420C>A (p.Ser25807Tyr)
c.67274C>A (p.Ser22425Tyr)
2g.178532091A>CCA349411478TTN,TTN-AS1c.96820T>G (p.Ser32274Ala)
c.77905T>G (p.Ser25969Ala)
c.77704T>G (p.Ser25902Ala)
c.77329T>G (p.Ser25777Ala)
c.104524T>G (p.Ser34842Ala)
c.99601T>G (p.Ser33201Ala)
n.446+8455A>C
n.220-3641A>C
c.103621T>G (p.Ser34541Ala)
c.77515T>G (p.Ser25839Ala)
c.77374T>G (p.Ser25792Ala)
c.103417T>G (p.Ser34473Ala)
c.98815T>G (p.Ser32939Ala)
c.98812T>G (p.Ser32938Ala)
c.95854T>G (p.Ser31952Ala)
c.77470T>G (p.Ser25824Ala)
c.98965T>G (p.Ser32989Ala)
c.98962T>G (p.Ser32988Ala)
c.98395T>G (p.Ser32799Ala)
c.95737T>G (p.Ser31913Ala)
c.95656T>G (p.Ser31886Ala)
c.77419T>G (p.Ser25807Ala)
c.67273T>G (p.Ser22425Ala)
2g.178532091A>GCA349411476TTN,TTN-AS1c.96820T>C (p.Ser32274Pro)
c.77905T>C (p.Ser25969Pro)
c.77704T>C (p.Ser25902Pro)
c.77329T>C (p.Ser25777Pro)
c.104524T>C (p.Ser34842Pro)
c.99601T>C (p.Ser33201Pro)
n.446+8455A>G
n.220-3641A>G
c.103621T>C (p.Ser34541Pro)
c.77515T>C (p.Ser25839Pro)
c.77374T>C (p.Ser25792Pro)
c.103417T>C (p.Ser34473Pro)
c.98815T>C (p.Ser32939Pro)
c.98812T>C (p.Ser32938Pro)
c.95854T>C (p.Ser31952Pro)
c.77470T>C (p.Ser25824Pro)
c.98965T>C (p.Ser32989Pro)
c.98962T>C (p.Ser32988Pro)
c.98395T>C (p.Ser32799Pro)
c.95737T>C (p.Ser31913Pro)
c.95656T>C (p.Ser31886Pro)
c.77419T>C (p.Ser25807Pro)
c.67273T>C (p.Ser22425Pro)
2g.178532091A>TCA349411477TTN,TTN-AS1c.96820T>A (p.Ser32274Thr)
c.77905T>A (p.Ser25969Thr)
c.77704T>A (p.Ser25902Thr)
c.77329T>A (p.Ser25777Thr)
c.104524T>A (p.Ser34842Thr)
c.99601T>A (p.Ser33201Thr)
n.446+8455A>T
n.220-3641A>T
c.103621T>A (p.Ser34541Thr)
c.77515T>A (p.Ser25839Thr)
c.77374T>A (p.Ser25792Thr)
c.103417T>A (p.Ser34473Thr)
c.98815T>A (p.Ser32939Thr)
c.98812T>A (p.Ser32938Thr)
c.95854T>A (p.Ser31952Thr)
c.77470T>A (p.Ser25824Thr)
c.98965T>A (p.Ser32989Thr)
c.98962T>A (p.Ser32988Thr)
c.98395T>A (p.Ser32799Thr)
c.95737T>A (p.Ser31913Thr)
c.95656T>A (p.Ser31886Thr)
c.77419T>A (p.Ser25807Thr)
c.67273T>A (p.Ser22425Thr)
2g.178532092G>ACA430235855TTN,TTN-AS1c.96819C>T (p.Arg32273=)
c.77904C>T (p.Arg25968=)
c.77703C>T (p.Arg25901=)
c.77328C>T (p.Arg25776=)
c.104523C>T (p.Arg34841=)
c.99600C>T (p.Arg33200=)
n.446+8456G>A
n.220-3640G>A
c.103620C>T (p.Arg34540=)
c.77514C>T (p.Arg25838=)
c.77373C>T (p.Arg25791=)
c.103416C>T (p.Arg34472=)
c.98814C>T (p.Arg32938=)
c.98811C>T (p.Arg32937=)
c.95853C>T (p.Arg31951=)
c.77469C>T (p.Arg25823=)
c.98964C>T (p.Arg32988=)
c.98961C>T (p.Arg32987=)
c.98394C>T (p.Arg32798=)
c.95736C>T (p.Arg31912=)
c.95655C>T (p.Arg31885=)
c.77418C>T (p.Arg25806=)
c.67272C>T (p.Arg22424=)
 ClinVar gnomAD v4
2g.178532092G>CCA430235853TTN,TTN-AS1c.96819C>G (p.Arg32273=)
c.77904C>G (p.Arg25968=)
c.77703C>G (p.Arg25901=)
c.77328C>G (p.Arg25776=)
c.104523C>G (p.Arg34841=)
c.99600C>G (p.Arg33200=)
n.446+8456G>C
n.220-3640G>C
c.103620C>G (p.Arg34540=)
c.77514C>G (p.Arg25838=)
c.77373C>G (p.Arg25791=)
c.103416C>G (p.Arg34472=)
c.98814C>G (p.Arg32938=)
c.98811C>G (p.Arg32937=)
c.95853C>G (p.Arg31951=)
c.77469C>G (p.Arg25823=)
c.98964C>G (p.Arg32988=)
c.98961C>G (p.Arg32987=)
c.98394C>G (p.Arg32798=)
c.95736C>G (p.Arg31912=)
c.95655C>G (p.Arg31885=)
c.77418C>G (p.Arg25806=)
c.67272C>G (p.Arg22424=)
 gnomAD v4
2g.178532092G=CA1310518072TTN,TTN-AS1c.96819C= (p.Arg32273=)
c.77904C= (p.Arg25968=)
c.77703C= (p.Arg25901=)
c.77328C= (p.Arg25776=)
c.104523C= (p.Arg34841=)
c.99600C= (p.Arg33200=)
n.446+8456G=
n.220-3640G=
c.103620C= (p.Arg34540=)
c.77514C= (p.Arg25838=)
c.77373C= (p.Arg25791=)
c.103416C= (p.Arg34472=)
c.98814C= (p.Arg32938=)
c.98811C= (p.Arg32937=)
c.95853C= (p.Arg31951=)
c.77469C= (p.Arg25823=)
c.98964C= (p.Arg32988=)
c.98961C= (p.Arg32987=)
c.98394C= (p.Arg32798=)
c.95736C= (p.Arg31912=)
c.95655C= (p.Arg31885=)
c.77418C= (p.Arg25806=)
c.67272C= (p.Arg22424=)
2g.178532092G>TCA430235854TTN,TTN-AS1c.96819C>A (p.Arg32273=)
c.77904C>A (p.Arg25968=)
c.77703C>A (p.Arg25901=)
c.77328C>A (p.Arg25776=)
c.104523C>A (p.Arg34841=)
c.99600C>A (p.Arg33200=)
n.446+8456G>T
n.220-3640G>T
c.103620C>A (p.Arg34540=)
c.77514C>A (p.Arg25838=)
c.77373C>A (p.Arg25791=)
c.103416C>A (p.Arg34472=)
c.98814C>A (p.Arg32938=)
c.98811C>A (p.Arg32937=)
c.95853C>A (p.Arg31951=)
c.77469C>A (p.Arg25823=)
c.98964C>A (p.Arg32988=)
c.98961C>A (p.Arg32987=)
c.98394C>A (p.Arg32798=)
c.95736C>A (p.Arg31912=)
c.95655C>A (p.Arg31885=)
c.77418C>A (p.Arg25806=)
c.67272C>A (p.Arg22424=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.178532093C>ACA349411479TTN,TTN-AS1c.96818G>T (p.Arg32273Leu)
c.77903G>T (p.Arg25968Leu)
c.77702G>T (p.Arg25901Leu)
c.77327G>T (p.Arg25776Leu)
c.104522G>T (p.Arg34841Leu)
c.99599G>T (p.Arg33200Leu)
n.446+8457C>A
n.220-3639C>A
c.103619G>T (p.Arg34540Leu)
c.77513G>T (p.Arg25838Leu)
c.77372G>T (p.Arg25791Leu)
c.103415G>T (p.Arg34472Leu)
c.98813G>T (p.Arg32938Leu)
c.98810G>T (p.Arg32937Leu)
c.95852G>T (p.Arg31951Leu)
c.77468G>T (p.Arg25823Leu)
c.98963G>T (p.Arg32988Leu)
c.98960G>T (p.Arg32987Leu)
c.98393G>T (p.Arg32798Leu)
c.95735G>T (p.Arg31912Leu)
c.95654G>T (p.Arg31885Leu)
c.77417G>T (p.Arg25806Leu)
c.67271G>T (p.Arg22424Leu)
2g.178532093C=CA1310518073TTN,TTN-AS1c.96818G= (p.Arg32273=)
c.77903G= (p.Arg25968=)
c.77702G= (p.Arg25901=)
c.77327G= (p.Arg25776=)
c.104522G= (p.Arg34841=)
c.99599G= (p.Arg33200=)
n.446+8457C=
n.220-3639C=
c.103619G= (p.Arg34540=)
c.77513G= (p.Arg25838=)
c.77372G= (p.Arg25791=)
c.103415G= (p.Arg34472=)
c.98813G= (p.Arg32938=)
c.98810G= (p.Arg32937=)
c.95852G= (p.Arg31951=)
c.77468G= (p.Arg25823=)
c.98963G= (p.Arg32988=)
c.98960G= (p.Arg32987=)
c.98393G= (p.Arg32798=)
c.95735G= (p.Arg31912=)
c.95654G= (p.Arg31885=)
c.77417G= (p.Arg25806=)
c.67271G= (p.Arg22424=)
2g.178532093C>GCA349411480TTN,TTN-AS1c.96818G>C (p.Arg32273Pro)
c.77903G>C (p.Arg25968Pro)
c.77702G>C (p.Arg25901Pro)
c.77327G>C (p.Arg25776Pro)
c.104522G>C (p.Arg34841Pro)
c.99599G>C (p.Arg33200Pro)
n.446+8457C>G
n.220-3639C>G
c.103619G>C (p.Arg34540Pro)
c.77513G>C (p.Arg25838Pro)
c.77372G>C (p.Arg25791Pro)
c.103415G>C (p.Arg34472Pro)
c.98813G>C (p.Arg32938Pro)
c.98810G>C (p.Arg32937Pro)
c.95852G>C (p.Arg31951Pro)
c.77468G>C (p.Arg25823Pro)
c.98963G>C (p.Arg32988Pro)
c.98960G>C (p.Arg32987Pro)
c.98393G>C (p.Arg32798Pro)
c.95735G>C (p.Arg31912Pro)
c.95654G>C (p.Arg31885Pro)
c.77417G>C (p.Arg25806Pro)
c.67271G>C (p.Arg22424Pro)
2g.178532093C>TCA357992TTN,TTN-AS1c.96818G>A (p.Arg32273His)
c.77903G>A (p.Arg25968His)
c.77702G>A (p.Arg25901His)
c.77327G>A (p.Arg25776His)
c.104522G>A (p.Arg34841His)
c.99599G>A (p.Arg33200His)
n.446+8457C>T
n.220-3639C>T
c.103619G>A (p.Arg34540His)
c.77513G>A (p.Arg25838His)
c.77372G>A (p.Arg25791His)
c.103415G>A (p.Arg34472His)
c.98813G>A (p.Arg32938His)
c.98810G>A (p.Arg32937His)
c.95852G>A (p.Arg31951His)
c.77468G>A (p.Arg25823His)
c.98963G>A (p.Arg32988His)
c.98960G>A (p.Arg32987His)
c.98393G>A (p.Arg32798His)
c.95735G>A (p.Arg31912His)
c.95654G>A (p.Arg31885His)
c.77417G>A (p.Arg25806His)
c.67271G>A (p.Arg22424His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
2g.178532094G>ACA311187TTN,TTN-AS1c.96817C>T (p.Arg32273Cys)
c.77902C>T (p.Arg25968Cys)
c.77701C>T (p.Arg25901Cys)
c.77326C>T (p.Arg25776Cys)
c.104521C>T (p.Arg34841Cys)
c.99598C>T (p.Arg33200Cys)
n.446+8458G>A
n.220-3638G>A
c.103618C>T (p.Arg34540Cys)
c.77512C>T (p.Arg25838Cys)
c.77371C>T (p.Arg25791Cys)
c.103414C>T (p.Arg34472Cys)
c.98812C>T (p.Arg32938Cys)
c.98809C>T (p.Arg32937Cys)
c.95851C>T (p.Arg31951Cys)
c.77467C>T (p.Arg25823Cys)
c.98962C>T (p.Arg32988Cys)
c.98959C>T (p.Arg32987Cys)
c.98392C>T (p.Arg32798Cys)
c.95734C>T (p.Arg31912Cys)
c.95653C>T (p.Arg31885Cys)
c.77416C>T (p.Arg25806Cys)
c.67270C>T (p.Arg22424Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178532094G>CCA349411481TTN,TTN-AS1c.96817C>G (p.Arg32273Gly)
c.77902C>G (p.Arg25968Gly)
c.77701C>G (p.Arg25901Gly)
c.77326C>G (p.Arg25776Gly)
c.104521C>G (p.Arg34841Gly)
c.99598C>G (p.Arg33200Gly)
n.446+8458G>C
n.220-3638G>C
c.103618C>G (p.Arg34540Gly)
c.77512C>G (p.Arg25838Gly)
c.77371C>G (p.Arg25791Gly)
c.103414C>G (p.Arg34472Gly)
c.98812C>G (p.Arg32938Gly)
c.98809C>G (p.Arg32937Gly)
c.95851C>G (p.Arg31951Gly)
c.77467C>G (p.Arg25823Gly)
c.98962C>G (p.Arg32988Gly)
c.98959C>G (p.Arg32987Gly)
c.98392C>G (p.Arg32798Gly)
c.95734C>G (p.Arg31912Gly)
c.95653C>G (p.Arg31885Gly)
c.77416C>G (p.Arg25806Gly)
c.67270C>G (p.Arg22424Gly)
2g.178532094G=CA1310518074TTN,TTN-AS1c.96817C= (p.Arg32273=)
c.77902C= (p.Arg25968=)
c.77701C= (p.Arg25901=)
c.77326C= (p.Arg25776=)
c.104521C= (p.Arg34841=)
c.99598C= (p.Arg33200=)
n.446+8458G=
n.220-3638G=
c.103618C= (p.Arg34540=)
c.77512C= (p.Arg25838=)
c.77371C= (p.Arg25791=)
c.103414C= (p.Arg34472=)
c.98812C= (p.Arg32938=)
c.98809C= (p.Arg32937=)
c.95851C= (p.Arg31951=)
c.77467C= (p.Arg25823=)
c.98962C= (p.Arg32988=)
c.98959C= (p.Arg32987=)
c.98392C= (p.Arg32798=)
c.95734C= (p.Arg31912=)
c.95653C= (p.Arg31885=)
c.77416C= (p.Arg25806=)
c.67270C= (p.Arg22424=)
2g.178532094G>TCA349411482TTN,TTN-AS1c.96817C>A (p.Arg32273Ser)
c.77902C>A (p.Arg25968Ser)
c.77701C>A (p.Arg25901Ser)
c.77326C>A (p.Arg25776Ser)
c.104521C>A (p.Arg34841Ser)
c.99598C>A (p.Arg33200Ser)
n.446+8458G>T
n.220-3638G>T
c.103618C>A (p.Arg34540Ser)
c.77512C>A (p.Arg25838Ser)
c.77371C>A (p.Arg25791Ser)
c.103414C>A (p.Arg34472Ser)
c.98812C>A (p.Arg32938Ser)
c.98809C>A (p.Arg32937Ser)
c.95851C>A (p.Arg31951Ser)
c.77467C>A (p.Arg25823Ser)
c.98962C>A (p.Arg32988Ser)
c.98959C>A (p.Arg32987Ser)
c.98392C>A (p.Arg32798Ser)
c.95734C>A (p.Arg31912Ser)
c.95653C>A (p.Arg31885Ser)
c.77416C>A (p.Arg25806Ser)
c.67270C>A (p.Arg22424Ser)
2g.178532095C>ACA430235856TTN,TTN-AS1c.96816G>T (p.Arg32272=)
c.77901G>T (p.Arg25967=)
c.77700G>T (p.Arg25900=)
c.77325G>T (p.Arg25775=)
c.104520G>T (p.Arg34840=)
c.99597G>T (p.Arg33199=)
n.446+8459C>A
n.220-3637C>A
c.103617G>T (p.Arg34539=)
c.77511G>T (p.Arg25837=)
c.77370G>T (p.Arg25790=)
c.103413G>T (p.Arg34471=)
c.98811G>T (p.Arg32937=)
c.98808G>T (p.Arg32936=)
c.95850G>T (p.Arg31950=)
c.77466G>T (p.Arg25822=)
c.98961G>T (p.Arg32987=)
c.98958G>T (p.Arg32986=)
c.98391G>T (p.Arg32797=)
c.95733G>T (p.Arg31911=)
c.95652G>T (p.Arg31884=)
c.77415G>T (p.Arg25805=)
c.67269G>T (p.Arg22423=)
2g.178532095C=CA1310518075TTN,TTN-AS1c.96816G= (p.Arg32272=)
c.77901G= (p.Arg25967=)
c.77700G= (p.Arg25900=)
c.77325G= (p.Arg25775=)
c.104520G= (p.Arg34840=)
c.99597G= (p.Arg33199=)
n.446+8459C=
n.220-3637C=
c.103617G= (p.Arg34539=)
c.77511G= (p.Arg25837=)
c.77370G= (p.Arg25790=)
c.103413G= (p.Arg34471=)
c.98811G= (p.Arg32937=)
c.98808G= (p.Arg32936=)
c.95850G= (p.Arg31950=)
c.77466G= (p.Arg25822=)
c.98961G= (p.Arg32987=)
c.98958G= (p.Arg32986=)
c.98391G= (p.Arg32797=)
c.95733G= (p.Arg31911=)
c.95652G= (p.Arg31884=)
c.77415G= (p.Arg25805=)
c.67269G= (p.Arg22423=)
2g.178532095C>GCA1985410TTN,TTN-AS1c.96816G>C (p.Arg32272=)
c.77901G>C (p.Arg25967=)
c.77700G>C (p.Arg25900=)
c.77325G>C (p.Arg25775=)
c.104520G>C (p.Arg34840=)
c.99597G>C (p.Arg33199=)
n.446+8459C>G
n.220-3637C>G
c.103617G>C (p.Arg34539=)
c.77511G>C (p.Arg25837=)
c.77370G>C (p.Arg25790=)
c.103413G>C (p.Arg34471=)
c.98811G>C (p.Arg32937=)
c.98808G>C (p.Arg32936=)
c.95850G>C (p.Arg31950=)
c.77466G>C (p.Arg25822=)
c.98961G>C (p.Arg32987=)
c.98958G>C (p.Arg32986=)
c.98391G>C (p.Arg32797=)
c.95733G>C (p.Arg31911=)
c.95652G>C (p.Arg31884=)
c.77415G>C (p.Arg25805=)
c.67269G>C (p.Arg22423=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178532095C>TCA1985411TTN,TTN-AS1c.96816G>A (p.Arg32272=)
c.77901G>A (p.Arg25967=)
c.77700G>A (p.Arg25900=)
c.77325G>A (p.Arg25775=)
c.104520G>A (p.Arg34840=)
c.99597G>A (p.Arg33199=)
n.446+8459C>T
n.220-3637C>T
c.103617G>A (p.Arg34539=)
c.77511G>A (p.Arg25837=)
c.77370G>A (p.Arg25790=)
c.103413G>A (p.Arg34471=)
c.98811G>A (p.Arg32937=)
c.98808G>A (p.Arg32936=)
c.95850G>A (p.Arg31950=)
c.77466G>A (p.Arg25822=)
c.98961G>A (p.Arg32987=)
c.98958G>A (p.Arg32986=)
c.98391G>A (p.Arg32797=)
c.95733G>A (p.Arg31911=)
c.95652G>A (p.Arg31884=)
c.77415G>A (p.Arg25805=)
c.67269G>A (p.Arg22423=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.178532096C>ACA349411483TTN,TTN-AS1c.96815G>T (p.Arg32272Leu)
c.77900G>T (p.Arg25967Leu)
c.77699G>T (p.Arg25900Leu)
c.77324G>T (p.Arg25775Leu)
c.104519G>T (p.Arg34840Leu)
c.99596G>T (p.Arg33199Leu)
n.446+8460C>A
n.220-3636C>A
c.103616G>T (p.Arg34539Leu)
c.77510G>T (p.Arg25837Leu)
c.77369G>T (p.Arg25790Leu)
c.103412G>T (p.Arg34471Leu)
c.98810G>T (p.Arg32937Leu)
c.98807G>T (p.Arg32936Leu)
c.95849G>T (p.Arg31950Leu)
c.77465G>T (p.Arg25822Leu)
c.98960G>T (p.Arg32987Leu)
c.98957G>T (p.Arg32986Leu)
c.98390G>T (p.Arg32797Leu)
c.95732G>T (p.Arg31911Leu)
c.95651G>T (p.Arg31884Leu)
c.77414G>T (p.Arg25805Leu)
c.67268G>T (p.Arg22423Leu)
2g.178532096C=CA1310518076TTN,TTN-AS1c.96815G= (p.Arg32272=)
c.77900G= (p.Arg25967=)
c.77699G= (p.Arg25900=)
c.77324G= (p.Arg25775=)
c.104519G= (p.Arg34840=)
c.99596G= (p.Arg33199=)
n.446+8460C=
n.220-3636C=
c.103616G= (p.Arg34539=)
c.77510G= (p.Arg25837=)
c.77369G= (p.Arg25790=)
c.103412G= (p.Arg34471=)
c.98810G= (p.Arg32937=)
c.98807G= (p.Arg32936=)
c.95849G= (p.Arg31950=)
c.77465G= (p.Arg25822=)
c.98960G= (p.Arg32987=)
c.98957G= (p.Arg32986=)
c.98390G= (p.Arg32797=)
c.95732G= (p.Arg31911=)
c.95651G= (p.Arg31884=)
c.77414G= (p.Arg25805=)
c.67268G= (p.Arg22423=)
2g.178532096C>GCA349411484TTN,TTN-AS1c.96815G>C (p.Arg32272Pro)
c.77900G>C (p.Arg25967Pro)
c.77699G>C (p.Arg25900Pro)
c.77324G>C (p.Arg25775Pro)
c.104519G>C (p.Arg34840Pro)
c.99596G>C (p.Arg33199Pro)
n.446+8460C>G
n.220-3636C>G
c.103616G>C (p.Arg34539Pro)
c.77510G>C (p.Arg25837Pro)
c.77369G>C (p.Arg25790Pro)
c.103412G>C (p.Arg34471Pro)
c.98810G>C (p.Arg32937Pro)
c.98807G>C (p.Arg32936Pro)
c.95849G>C (p.Arg31950Pro)
c.77465G>C (p.Arg25822Pro)
c.98960G>C (p.Arg32987Pro)
c.98957G>C (p.Arg32986Pro)
c.98390G>C (p.Arg32797Pro)
c.95732G>C (p.Arg31911Pro)
c.95651G>C (p.Arg31884Pro)
c.77414G>C (p.Arg25805Pro)
c.67268G>C (p.Arg22423Pro)
2g.178532096C>TCA311184TTN,TTN-AS1c.96815G>A (p.Arg32272Gln)
c.77900G>A (p.Arg25967Gln)
c.77699G>A (p.Arg25900Gln)
c.77324G>A (p.Arg25775Gln)
c.104519G>A (p.Arg34840Gln)
c.99596G>A (p.Arg33199Gln)
n.446+8460C>T
n.220-3636C>T
c.103616G>A (p.Arg34539Gln)
c.77510G>A (p.Arg25837Gln)
c.77369G>A (p.Arg25790Gln)
c.103412G>A (p.Arg34471Gln)
c.98810G>A (p.Arg32937Gln)
c.98807G>A (p.Arg32936Gln)
c.95849G>A (p.Arg31950Gln)
c.77465G>A (p.Arg25822Gln)
c.98960G>A (p.Arg32987Gln)
c.98957G>A (p.Arg32986Gln)
c.98390G>A (p.Arg32797Gln)
c.95732G>A (p.Arg31911Gln)
c.95651G>A (p.Arg31884Gln)
c.77414G>A (p.Arg25805Gln)
c.67268G>A (p.Arg22423Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178532097G>ACA1985412TTN,TTN-AS1c.96814C>T (p.Arg32272Trp)
c.77899C>T (p.Arg25967Trp)
c.77698C>T (p.Arg25900Trp)
c.77323C>T (p.Arg25775Trp)
c.104518C>T (p.Arg34840Trp)
c.99595C>T (p.Arg33199Trp)
n.446+8461G>A
n.220-3635G>A
c.103615C>T (p.Arg34539Trp)
c.77509C>T (p.Arg25837Trp)
c.77368C>T (p.Arg25790Trp)
c.103411C>T (p.Arg34471Trp)
c.98809C>T (p.Arg32937Trp)
c.98806C>T (p.Arg32936Trp)
c.95848C>T (p.Arg31950Trp)
c.77464C>T (p.Arg25822Trp)
c.98959C>T (p.Arg32987Trp)
c.98956C>T (p.Arg32986Trp)
c.98389C>T (p.Arg32797Trp)
c.95731C>T (p.Arg31911Trp)
c.95650C>T (p.Arg31884Trp)
c.77413C>T (p.Arg25805Trp)
c.67267C>T (p.Arg22423Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
2g.178532097G>CCA349411485TTN,TTN-AS1c.96814C>G (p.Arg32272Gly)
c.77899C>G (p.Arg25967Gly)
c.77698C>G (p.Arg25900Gly)
c.77323C>G (p.Arg25775Gly)
c.104518C>G (p.Arg34840Gly)
c.99595C>G (p.Arg33199Gly)
n.446+8461G>C
n.220-3635G>C
c.103615C>G (p.Arg34539Gly)
c.77509C>G (p.Arg25837Gly)
c.77368C>G (p.Arg25790Gly)
c.103411C>G (p.Arg34471Gly)
c.98809C>G (p.Arg32937Gly)
c.98806C>G (p.Arg32936Gly)
c.95848C>G (p.Arg31950Gly)
c.77464C>G (p.Arg25822Gly)
c.98959C>G (p.Arg32987Gly)
c.98956C>G (p.Arg32986Gly)
c.98389C>G (p.Arg32797Gly)
c.95731C>G (p.Arg31911Gly)
c.95650C>G (p.Arg31884Gly)
c.77413C>G (p.Arg25805Gly)
c.67267C>G (p.Arg22423Gly)
2g.178532097G=CA1310518077TTN,TTN-AS1c.96814C= (p.Arg32272=)
c.77899C= (p.Arg25967=)
c.77698C= (p.Arg25900=)
c.77323C= (p.Arg25775=)
c.104518C= (p.Arg34840=)
c.99595C= (p.Arg33199=)
n.446+8461G=
n.220-3635G=
c.103615C= (p.Arg34539=)
c.77509C= (p.Arg25837=)
c.77368C= (p.Arg25790=)
c.103411C= (p.Arg34471=)
c.98809C= (p.Arg32937=)
c.98806C= (p.Arg32936=)
c.95848C= (p.Arg31950=)
c.77464C= (p.Arg25822=)
c.98959C= (p.Arg32987=)
c.98956C= (p.Arg32986=)
c.98389C= (p.Arg32797=)
c.95731C= (p.Arg31911=)
c.95650C= (p.Arg31884=)
c.77413C= (p.Arg25805=)
c.67267C= (p.Arg22423=)
2g.178532097G>TCA430235857TTN,TTN-AS1c.96814C>A (p.Arg32272=)
c.77899C>A (p.Arg25967=)
c.77698C>A (p.Arg25900=)
c.77323C>A (p.Arg25775=)
c.104518C>A (p.Arg34840=)
c.99595C>A (p.Arg33199=)
n.446+8461G>T
n.220-3635G>T
c.103615C>A (p.Arg34539=)
c.77509C>A (p.Arg25837=)
c.77368C>A (p.Arg25790=)
c.103411C>A (p.Arg34471=)
c.98809C>A (p.Arg32937=)
c.98806C>A (p.Arg32936=)
c.95848C>A (p.Arg31950=)
c.77464C>A (p.Arg25822=)
c.98959C>A (p.Arg32987=)
c.98956C>A (p.Arg32986=)
c.98389C>A (p.Arg32797=)
c.95731C>A (p.Arg31911=)
c.95650C>A (p.Arg31884=)
c.77413C>A (p.Arg25805=)
c.67267C>A (p.Arg22423=)
2g.178532098T>ACA430235859TTN,TTN-AS1c.96813A>T (p.Arg32271=)
c.77898A>T (p.Arg25966=)
c.77697A>T (p.Arg25899=)
c.77322A>T (p.Arg25774=)
c.104517A>T (p.Arg34839=)
c.99594A>T (p.Arg33198=)
n.446+8462T>A
n.220-3634T>A
c.103614A>T (p.Arg34538=)
c.77508A>T (p.Arg25836=)
c.77367A>T (p.Arg25789=)
c.103410A>T (p.Arg34470=)
c.98808A>T (p.Arg32936=)
c.98805A>T (p.Arg32935=)
c.95847A>T (p.Arg31949=)
c.77463A>T (p.Arg25821=)
c.98958A>T (p.Arg32986=)
c.98955A>T (p.Arg32985=)
c.98388A>T (p.Arg32796=)
c.95730A>T (p.Arg31910=)
c.95649A>T (p.Arg31883=)
c.77412A>T (p.Arg25804=)
c.67266A>T (p.Arg22422=)
2g.178532098T>CCA430235858TTN,TTN-AS1c.96813A>G (p.Arg32271=)
c.77898A>G (p.Arg25966=)
c.77697A>G (p.Arg25899=)
c.77322A>G (p.Arg25774=)
c.104517A>G (p.Arg34839=)
c.99594A>G (p.Arg33198=)
n.446+8462T>C
n.220-3634T>C
c.103614A>G (p.Arg34538=)
c.77508A>G (p.Arg25836=)
c.77367A>G (p.Arg25789=)
c.103410A>G (p.Arg34470=)
c.98808A>G (p.Arg32936=)
c.98805A>G (p.Arg32935=)
c.95847A>G (p.Arg31949=)
c.77463A>G (p.Arg25821=)
c.98958A>G (p.Arg32986=)
c.98955A>G (p.Arg32985=)
c.98388A>G (p.Arg32796=)
c.95730A>G (p.Arg31910=)
c.95649A>G (p.Arg31883=)
c.77412A>G (p.Arg25804=)
c.67266A>G (p.Arg22422=)
2g.178532098T>GCA430235860TTN,TTN-AS1c.96813A>C (p.Arg32271=)
c.77898A>C (p.Arg25966=)
c.77697A>C (p.Arg25899=)
c.77322A>C (p.Arg25774=)
c.104517A>C (p.Arg34839=)
c.99594A>C (p.Arg33198=)
n.446+8462T>G
n.220-3634T>G
c.103614A>C (p.Arg34538=)
c.77508A>C (p.Arg25836=)
c.77367A>C (p.Arg25789=)
c.103410A>C (p.Arg34470=)
c.98808A>C (p.Arg32936=)
c.98805A>C (p.Arg32935=)
c.95847A>C (p.Arg31949=)
c.77463A>C (p.Arg25821=)
c.98958A>C (p.Arg32986=)
c.98955A>C (p.Arg32985=)
c.98388A>C (p.Arg32796=)
c.95730A>C (p.Arg31910=)
c.95649A>C (p.Arg31883=)
c.77412A>C (p.Arg25804=)
c.67266A>C (p.Arg22422=)
2g.178532099C>ACA349411486TTN,TTN-AS1c.96812G>T (p.Arg32271Leu)
c.77897G>T (p.Arg25966Leu)
c.77696G>T (p.Arg25899Leu)
c.77321G>T (p.Arg25774Leu)
c.104516G>T (p.Arg34839Leu)
c.99593G>T (p.Arg33198Leu)
n.446+8463C>A
n.220-3633C>A
c.103613G>T (p.Arg34538Leu)
c.77507G>T (p.Arg25836Leu)
c.77366G>T (p.Arg25789Leu)
c.103409G>T (p.Arg34470Leu)
c.98807G>T (p.Arg32936Leu)
c.98804G>T (p.Arg32935Leu)
c.95846G>T (p.Arg31949Leu)
c.77462G>T (p.Arg25821Leu)
c.98957G>T (p.Arg32986Leu)
c.98954G>T (p.Arg32985Leu)
c.98387G>T (p.Arg32796Leu)
c.95729G>T (p.Arg31910Leu)
c.95648G>T (p.Arg31883Leu)
c.77411G>T (p.Arg25804Leu)
c.67265G>T (p.Arg22422Leu)
2g.178532099C=CA1310518078TTN,TTN-AS1c.96812G= (p.Arg32271=)
c.77897G= (p.Arg25966=)
c.77696G= (p.Arg25899=)
c.77321G= (p.Arg25774=)
c.104516G= (p.Arg34839=)
c.99593G= (p.Arg33198=)
n.446+8463C=
n.220-3633C=
c.103613G= (p.Arg34538=)
c.77507G= (p.Arg25836=)
c.77366G= (p.Arg25789=)
c.103409G= (p.Arg34470=)
c.98807G= (p.Arg32936=)
c.98804G= (p.Arg32935=)
c.95846G= (p.Arg31949=)
c.77462G= (p.Arg25821=)
c.98957G= (p.Arg32986=)
c.98954G= (p.Arg32985=)
c.98387G= (p.Arg32796=)
c.95729G= (p.Arg31910=)
c.95648G= (p.Arg31883=)
c.77411G= (p.Arg25804=)
c.67265G= (p.Arg22422=)
2g.178532099C>GCA349411487TTN,TTN-AS1c.96812G>C (p.Arg32271Pro)
c.77897G>C (p.Arg25966Pro)
c.77696G>C (p.Arg25899Pro)
c.77321G>C (p.Arg25774Pro)
c.104516G>C (p.Arg34839Pro)
c.99593G>C (p.Arg33198Pro)
n.446+8463C>G
n.220-3633C>G
c.103613G>C (p.Arg34538Pro)
c.77507G>C (p.Arg25836Pro)
c.77366G>C (p.Arg25789Pro)
c.103409G>C (p.Arg34470Pro)
c.98807G>C (p.Arg32936Pro)
c.98804G>C (p.Arg32935Pro)
c.95846G>C (p.Arg31949Pro)
c.77462G>C (p.Arg25821Pro)
c.98957G>C (p.Arg32986Pro)
c.98954G>C (p.Arg32985Pro)
c.98387G>C (p.Arg32796Pro)
c.95729G>C (p.Arg31910Pro)
c.95648G>C (p.Arg31883Pro)
c.77411G>C (p.Arg25804Pro)
c.67265G>C (p.Arg22422Pro)
2g.178532099C>TCA1985413TTN,TTN-AS1c.96812G>A (p.Arg32271Gln)
c.77897G>A (p.Arg25966Gln)
c.77696G>A (p.Arg25899Gln)
c.77321G>A (p.Arg25774Gln)
c.104516G>A (p.Arg34839Gln)
c.99593G>A (p.Arg33198Gln)
n.446+8463C>T
n.220-3633C>T
c.103613G>A (p.Arg34538Gln)
c.77507G>A (p.Arg25836Gln)
c.77366G>A (p.Arg25789Gln)
c.103409G>A (p.Arg34470Gln)
c.98807G>A (p.Arg32936Gln)
c.98804G>A (p.Arg32935Gln)
c.95846G>A (p.Arg31949Gln)
c.77462G>A (p.Arg25821Gln)
c.98957G>A (p.Arg32986Gln)
c.98954G>A (p.Arg32985Gln)
c.98387G>A (p.Arg32796Gln)
c.95729G>A (p.Arg31910Gln)
c.95648G>A (p.Arg31883Gln)
c.77411G>A (p.Arg25804Gln)
c.67265G>A (p.Arg22422Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
2g.178532100G>ACA349411489TTN,TTN-AS1c.96811C>T (p.Arg32271Ter)
c.77896C>T (p.Arg25966Ter)
c.77695C>T (p.Arg25899Ter)
c.77320C>T (p.Arg25774Ter)
c.104515C>T (p.Arg34839Ter)
c.99592C>T (p.Arg33198Ter)
n.446+8464G>A
n.220-3632G>A
c.103612C>T (p.Arg34538Ter)
c.77506C>T (p.Arg25836Ter)
c.77365C>T (p.Arg25789Ter)
c.103408C>T (p.Arg34470Ter)
c.98806C>T (p.Arg32936Ter)
c.98803C>T (p.Arg32935Ter)
c.95845C>T (p.Arg31949Ter)
c.77461C>T (p.Arg25821Ter)
c.98956C>T (p.Arg32986Ter)
c.98953C>T (p.Arg32985Ter)
c.98386C>T (p.Arg32796Ter)
c.95728C>T (p.Arg31910Ter)
c.95647C>T (p.Arg31883Ter)
c.77410C>T (p.Arg25804Ter)
c.67264C>T (p.Arg22422Ter)
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC COSMIC
2g.178532100G>CCA349411490TTN,TTN-AS1c.96811C>G (p.Arg32271Gly)
c.77896C>G (p.Arg25966Gly)
c.77695C>G (p.Arg25899Gly)
c.77320C>G (p.Arg25774Gly)
c.104515C>G (p.Arg34839Gly)
c.99592C>G (p.Arg33198Gly)
n.446+8464G>C
n.220-3632G>C
c.103612C>G (p.Arg34538Gly)
c.77506C>G (p.Arg25836Gly)
c.77365C>G (p.Arg25789Gly)
c.103408C>G (p.Arg34470Gly)
c.98806C>G (p.Arg32936Gly)
c.98803C>G (p.Arg32935Gly)
c.95845C>G (p.Arg31949Gly)
c.77461C>G (p.Arg25821Gly)
c.98956C>G (p.Arg32986Gly)
c.98953C>G (p.Arg32985Gly)
c.98386C>G (p.Arg32796Gly)
c.95728C>G (p.Arg31910Gly)
c.95647C>G (p.Arg31883Gly)
c.77410C>G (p.Arg25804Gly)
c.67264C>G (p.Arg22422Gly)
2g.178532100G=CA1310518079TTN,TTN-AS1c.96811C= (p.Arg32271=)
c.77896C= (p.Arg25966=)
c.77695C= (p.Arg25899=)
c.77320C= (p.Arg25774=)
c.104515C= (p.Arg34839=)
c.99592C= (p.Arg33198=)
n.446+8464G=
n.220-3632G=
c.103612C= (p.Arg34538=)
c.77506C= (p.Arg25836=)
c.77365C= (p.Arg25789=)
c.103408C= (p.Arg34470=)
c.98806C= (p.Arg32936=)
c.98803C= (p.Arg32935=)
c.95845C= (p.Arg31949=)
c.77461C= (p.Arg25821=)
c.98956C= (p.Arg32986=)
c.98953C= (p.Arg32985=)
c.98386C= (p.Arg32796=)
c.95728C= (p.Arg31910=)
c.95647C= (p.Arg31883=)
c.77410C= (p.Arg25804=)
c.67264C= (p.Arg22422=)
2g.178532100G>TCA430235861TTN,TTN-AS1c.96811C>A (p.Arg32271=)
c.77896C>A (p.Arg25966=)
c.77695C>A (p.Arg25899=)
c.77320C>A (p.Arg25774=)
c.104515C>A (p.Arg34839=)
c.99592C>A (p.Arg33198=)
n.446+8464G>T
n.220-3632G>T
c.103612C>A (p.Arg34538=)
c.77506C>A (p.Arg25836=)
c.77365C>A (p.Arg25789=)
c.103408C>A (p.Arg34470=)
c.98806C>A (p.Arg32936=)
c.98803C>A (p.Arg32935=)
c.95845C>A (p.Arg31949=)
c.77461C>A (p.Arg25821=)
c.98956C>A (p.Arg32986=)
c.98953C>A (p.Arg32985=)
c.98386C>A (p.Arg32796=)
c.95728C>A (p.Arg31910=)
c.95647C>A (p.Arg31883=)
c.77410C>A (p.Arg25804=)
c.67264C>A (p.Arg22422=)
 dbSNP gnomAD v4
2g.178532101T>ACA349411491TTN,TTN-AS1c.96810A>T (p.Arg32270Ser)
c.77895A>T (p.Arg25965Ser)
c.77694A>T (p.Arg25898Ser)
c.77319A>T (p.Arg25773Ser)
c.104514A>T (p.Arg34838Ser)
c.99591A>T (p.Arg33197Ser)
n.446+8465T>A
n.220-3631T>A
c.103611A>T (p.Arg34537Ser)
c.77505A>T (p.Arg25835Ser)
c.77364A>T (p.Arg25788Ser)
c.103407A>T (p.Arg34469Ser)
c.98805A>T (p.Arg32935Ser)
c.98802A>T (p.Arg32934Ser)
c.95844A>T (p.Arg31948Ser)
c.77460A>T (p.Arg25820Ser)
c.98955A>T (p.Arg32985Ser)
c.98952A>T (p.Arg32984Ser)
c.98385A>T (p.Arg32795Ser)
c.95727A>T (p.Arg31909Ser)
c.95646A>T (p.Arg31882Ser)
c.77409A>T (p.Arg25803Ser)
c.67263A>T (p.Arg22421Ser)
2g.178532101T>CCA430235862TTN,TTN-AS1c.96810A>G (p.Arg32270=)
c.77895A>G (p.Arg25965=)
c.77694A>G (p.Arg25898=)
c.77319A>G (p.Arg25773=)
c.104514A>G (p.Arg34838=)
c.99591A>G (p.Arg33197=)
n.446+8465T>C
n.220-3631T>C
c.103611A>G (p.Arg34537=)
c.77505A>G (p.Arg25835=)
c.77364A>G (p.Arg25788=)
c.103407A>G (p.Arg34469=)
c.98805A>G (p.Arg32935=)
c.98802A>G (p.Arg32934=)
c.95844A>G (p.Arg31948=)
c.77460A>G (p.Arg25820=)
c.98955A>G (p.Arg32985=)
c.98952A>G (p.Arg32984=)
c.98385A>G (p.Arg32795=)
c.95727A>G (p.Arg31909=)
c.95646A>G (p.Arg31882=)
c.77409A>G (p.Arg25803=)
c.67263A>G (p.Arg22421=)
2g.178532101T>GCA349411492TTN,TTN-AS1c.96810A>C (p.Arg32270Ser)
c.77895A>C (p.Arg25965Ser)
c.77694A>C (p.Arg25898Ser)
c.77319A>C (p.Arg25773Ser)
c.104514A>C (p.Arg34838Ser)
c.99591A>C (p.Arg33197Ser)
n.446+8465T>G
n.220-3631T>G
c.103611A>C (p.Arg34537Ser)
c.77505A>C (p.Arg25835Ser)
c.77364A>C (p.Arg25788Ser)
c.103407A>C (p.Arg34469Ser)
c.98805A>C (p.Arg32935Ser)
c.98802A>C (p.Arg32934Ser)
c.95844A>C (p.Arg31948Ser)
c.77460A>C (p.Arg25820Ser)
c.98955A>C (p.Arg32985Ser)
c.98952A>C (p.Arg32984Ser)
c.98385A>C (p.Arg32795Ser)
c.95727A>C (p.Arg31909Ser)
c.95646A>C (p.Arg31882Ser)
c.77409A>C (p.Arg25803Ser)
c.67263A>C (p.Arg22421Ser)
2g.178532102C>ACA349411494TTN,TTN-AS1c.96809G>T (p.Arg32270Ile)
c.77894G>T (p.Arg25965Ile)
c.77693G>T (p.Arg25898Ile)
c.77318G>T (p.Arg25773Ile)
c.104513G>T (p.Arg34838Ile)
c.99590G>T (p.Arg33197Ile)
n.446+8466C>A
n.220-3630C>A
c.103610G>T (p.Arg34537Ile)
c.77504G>T (p.Arg25835Ile)
c.77363G>T (p.Arg25788Ile)
c.103406G>T (p.Arg34469Ile)
c.98804G>T (p.Arg32935Ile)
c.98801G>T (p.Arg32934Ile)
c.95843G>T (p.Arg31948Ile)
c.77459G>T (p.Arg25820Ile)
c.98954G>T (p.Arg32985Ile)
c.98951G>T (p.Arg32984Ile)
c.98384G>T (p.Arg32795Ile)
c.95726G>T (p.Arg31909Ile)
c.95645G>T (p.Arg31882Ile)
c.77408G>T (p.Arg25803Ile)
c.67262G>T (p.Arg22421Ile)
2g.178532102C>GCA349411496TTN,TTN-AS1c.96809G>C (p.Arg32270Thr)
c.77894G>C (p.Arg25965Thr)
c.77693G>C (p.Arg25898Thr)
c.77318G>C (p.Arg25773Thr)
c.104513G>C (p.Arg34838Thr)
c.99590G>C (p.Arg33197Thr)
n.446+8466C>G
n.220-3630C>G
c.103610G>C (p.Arg34537Thr)
c.77504G>C (p.Arg25835Thr)
c.77363G>C (p.Arg25788Thr)
c.103406G>C (p.Arg34469Thr)
c.98804G>C (p.Arg32935Thr)
c.98801G>C (p.Arg32934Thr)
c.95843G>C (p.Arg31948Thr)
c.77459G>C (p.Arg25820Thr)
c.98954G>C (p.Arg32985Thr)
c.98951G>C (p.Arg32984Thr)
c.98384G>C (p.Arg32795Thr)
c.95726G>C (p.Arg31909Thr)
c.95645G>C (p.Arg31882Thr)
c.77408G>C (p.Arg25803Thr)
c.67262G>C (p.Arg22421Thr)
2g.178532102C>TCA349411497TTN,TTN-AS1c.96809G>A (p.Arg32270Lys)
c.77894G>A (p.Arg25965Lys)
c.77693G>A (p.Arg25898Lys)
c.77318G>A (p.Arg25773Lys)
c.104513G>A (p.Arg34838Lys)
c.99590G>A (p.Arg33197Lys)
n.446+8466C>T
n.220-3630C>T
c.103610G>A (p.Arg34537Lys)
c.77504G>A (p.Arg25835Lys)
c.77363G>A (p.Arg25788Lys)
c.103406G>A (p.Arg34469Lys)
c.98804G>A (p.Arg32935Lys)
c.98801G>A (p.Arg32934Lys)
c.95843G>A (p.Arg31948Lys)
c.77459G>A (p.Arg25820Lys)
c.98954G>A (p.Arg32985Lys)
c.98951G>A (p.Arg32984Lys)
c.98384G>A (p.Arg32795Lys)
c.95726G>A (p.Arg31909Lys)
c.95645G>A (p.Arg31882Lys)
c.77408G>A (p.Arg25803Lys)
c.67262G>A (p.Arg22421Lys)
 ClinVar
2g.178532103T>ACA349411499TTN,TTN-AS1c.96808A>T (p.Arg32270Ter)
c.77893A>T (p.Arg25965Ter)
c.77692A>T (p.Arg25898Ter)
c.77317A>T (p.Arg25773Ter)
c.104512A>T (p.Arg34838Ter)
c.99589A>T (p.Arg33197Ter)
n.446+8467T>A
n.220-3629T>A
c.103609A>T (p.Arg34537Ter)
c.77503A>T (p.Arg25835Ter)
c.77362A>T (p.Arg25788Ter)
c.103405A>T (p.Arg34469Ter)
c.98803A>T (p.Arg32935Ter)
c.98800A>T (p.Arg32934Ter)
c.95842A>T (p.Arg31948Ter)
c.77458A>T (p.Arg25820Ter)
c.98953A>T (p.Arg32985Ter)
c.98950A>T (p.Arg32984Ter)
c.98383A>T (p.Arg32795Ter)
c.95725A>T (p.Arg31909Ter)
c.95644A>T (p.Arg31882Ter)
c.77407A>T (p.Arg25803Ter)
c.67261A>T (p.Arg22421Ter)
2g.178532103T>CCA349411500TTN,TTN-AS1c.96808A>G (p.Arg32270Gly)
c.77893A>G (p.Arg25965Gly)
c.77692A>G (p.Arg25898Gly)
c.77317A>G (p.Arg25773Gly)
c.104512A>G (p.Arg34838Gly)
c.99589A>G (p.Arg33197Gly)
n.446+8467T>C
n.220-3629T>C
c.103609A>G (p.Arg34537Gly)
c.77503A>G (p.Arg25835Gly)
c.77362A>G (p.Arg25788Gly)
c.103405A>G (p.Arg34469Gly)
c.98803A>G (p.Arg32935Gly)
c.98800A>G (p.Arg32934Gly)
c.95842A>G (p.Arg31948Gly)
c.77458A>G (p.Arg25820Gly)
c.98953A>G (p.Arg32985Gly)
c.98950A>G (p.Arg32984Gly)
c.98383A>G (p.Arg32795Gly)
c.95725A>G (p.Arg31909Gly)
c.95644A>G (p.Arg31882Gly)
c.77407A>G (p.Arg25803Gly)
c.67261A>G (p.Arg22421Gly)
2g.178532103T>GCA430235863TTN,TTN-AS1c.96808A>C (p.Arg32270=)
c.77893A>C (p.Arg25965=)
c.77692A>C (p.Arg25898=)
c.77317A>C (p.Arg25773=)
c.104512A>C (p.Arg34838=)
c.99589A>C (p.Arg33197=)
n.446+8467T>G
n.220-3629T>G
c.103609A>C (p.Arg34537=)
c.77503A>C (p.Arg25835=)
c.77362A>C (p.Arg25788=)
c.103405A>C (p.Arg34469=)
c.98803A>C (p.Arg32935=)
c.98800A>C (p.Arg32934=)
c.95842A>C (p.Arg31948=)
c.77458A>C (p.Arg25820=)
c.98953A>C (p.Arg32985=)
c.98950A>C (p.Arg32984=)
c.98383A>C (p.Arg32795=)
c.95725A>C (p.Arg31909=)
c.95644A>C (p.Arg31882=)
c.77407A>C (p.Arg25803=)
c.67261A>C (p.Arg22421=)
 ClinVar gnomAD v4
2g.178532104C>ACA430235864TTN,TTN-AS1c.96807G>T (p.Leu32269=)
c.77892G>T (p.Leu25964=)
c.77691G>T (p.Leu25897=)
c.77316G>T (p.Leu25772=)
c.104511G>T (p.Leu34837=)
c.99588G>T (p.Leu33196=)
n.446+8468C>A
n.220-3628C>A
c.103608G>T (p.Leu34536=)
c.77502G>T (p.Leu25834=)
c.77361G>T (p.Leu25787=)
c.103404G>T (p.Leu34468=)
c.98802G>T (p.Leu32934=)
c.98799G>T (p.Leu32933=)
c.95841G>T (p.Leu31947=)
c.77457G>T (p.Leu25819=)
c.98952G>T (p.Leu32984=)
c.98949G>T (p.Leu32983=)
c.98382G>T (p.Leu32794=)
c.95724G>T (p.Leu31908=)
c.95643G>T (p.Leu31881=)
c.77406G>T (p.Leu25802=)
c.67260G>T (p.Leu22420=)
2g.178532104C=CA1310518080TTN,TTN-AS1c.96807G= (p.Leu32269=)
c.77892G= (p.Leu25964=)
c.77691G= (p.Leu25897=)
c.77316G= (p.Leu25772=)
c.104511G= (p.Leu34837=)
c.99588G= (p.Leu33196=)
n.446+8468C=
n.220-3628C=
c.103608G= (p.Leu34536=)
c.77502G= (p.Leu25834=)
c.77361G= (p.Leu25787=)
c.103404G= (p.Leu34468=)
c.98802G= (p.Leu32934=)
c.98799G= (p.Leu32933=)
c.95841G= (p.Leu31947=)
c.77457G= (p.Leu25819=)
c.98952G= (p.Leu32984=)
c.98949G= (p.Leu32983=)
c.98382G= (p.Leu32794=)
c.95724G= (p.Leu31908=)
c.95643G= (p.Leu31881=)
c.77406G= (p.Leu25802=)
c.67260G= (p.Leu22420=)
2g.178532104C>GCA430235865TTN,TTN-AS1c.96807G>C (p.Leu32269=)
c.77892G>C (p.Leu25964=)
c.77691G>C (p.Leu25897=)
c.77316G>C (p.Leu25772=)
c.104511G>C (p.Leu34837=)
c.99588G>C (p.Leu33196=)
n.446+8468C>G
n.220-3628C>G
c.103608G>C (p.Leu34536=)
c.77502G>C (p.Leu25834=)
c.77361G>C (p.Leu25787=)
c.103404G>C (p.Leu34468=)
c.98802G>C (p.Leu32934=)
c.98799G>C (p.Leu32933=)
c.95841G>C (p.Leu31947=)
c.77457G>C (p.Leu25819=)
c.98952G>C (p.Leu32984=)
c.98949G>C (p.Leu32983=)
c.98382G>C (p.Leu32794=)
c.95724G>C (p.Leu31908=)
c.95643G>C (p.Leu31881=)
c.77406G>C (p.Leu25802=)
c.67260G>C (p.Leu22420=)
2g.178532104C>TCA430235866TTN,TTN-AS1c.96807G>A (p.Leu32269=)
c.77892G>A (p.Leu25964=)
c.77691G>A (p.Leu25897=)
c.77316G>A (p.Leu25772=)
c.104511G>A (p.Leu34837=)
c.99588G>A (p.Leu33196=)
n.446+8468C>T
n.220-3628C>T
c.103608G>A (p.Leu34536=)
c.77502G>A (p.Leu25834=)
c.77361G>A (p.Leu25787=)
c.103404G>A (p.Leu34468=)
c.98802G>A (p.Leu32934=)
c.98799G>A (p.Leu32933=)
c.95841G>A (p.Leu31947=)
c.77457G>A (p.Leu25819=)
c.98952G>A (p.Leu32984=)
c.98949G>A (p.Leu32983=)
c.98382G>A (p.Leu32794=)
c.95724G>A (p.Leu31908=)
c.95643G>A (p.Leu31881=)
c.77406G>A (p.Leu25802=)
c.67260G>A (p.Leu22420=)
 dbSNP gnomAD v4
2g.178532104_178532107delinsCAGTCA1310518081TTN,TTN-AS1c.96804_96807delinsACTG (p.Leu32268=)
c.77889_77892delinsACTG (p.Leu25963=)
c.77688_77691delinsACTG (p.Leu25896=)
c.77313_77316delinsACTG (p.Leu25771=)
c.104508_104511delinsACTG (p.Leu34836=)
c.99585_99588delinsACTG (p.Leu33195=)
n.446+8468_446+8471delinsCAGT
n.220-3628_220-3625delinsCAGT
c.103605_103608delinsACTG (p.Leu34535=)
c.77499_77502delinsACTG (p.Leu25833=)
c.77358_77361delinsACTG (p.Leu25786=)
c.103401_103404delinsACTG (p.Leu34467=)
c.98799_98802delinsACTG (p.Leu32933=)
c.98796_98799delinsACTG (p.Leu32932=)
c.95838_95841delinsACTG (p.Leu31946=)
c.77454_77457delinsACTG (p.Leu25818=)
c.98949_98952delinsACTG (p.Leu32983=)
c.98946_98949delinsACTG (p.Leu32982=)
c.98379_98382delinsACTG (p.Leu32793=)
c.95721_95724delinsACTG (p.Leu31907=)
c.95640_95643delinsACTG (p.Leu31880=)
c.77403_77406delinsACTG (p.Leu25801=)
c.67257_67260delinsACTG (p.Leu22419=)
2g.178532105A>CCA349411508TTN,TTN-AS1c.96806T>G (p.Leu32269Arg)
c.77891T>G (p.Leu25964Arg)
c.77690T>G (p.Leu25897Arg)
c.77315T>G (p.Leu25772Arg)
c.104510T>G (p.Leu34837Arg)
c.99587T>G (p.Leu33196Arg)
n.446+8469A>C
n.220-3627A>C
c.103607T>G (p.Leu34536Arg)
c.77501T>G (p.Leu25834Arg)
c.77360T>G (p.Leu25787Arg)
c.103403T>G (p.Leu34468Arg)
c.98801T>G (p.Leu32934Arg)
c.98798T>G (p.Leu32933Arg)
c.95840T>G (p.Leu31947Arg)
c.77456T>G (p.Leu25819Arg)
c.98951T>G (p.Leu32984Arg)
c.98948T>G (p.Leu32983Arg)
c.98381T>G (p.Leu32794Arg)
c.95723T>G (p.Leu31908Arg)
c.95642T>G (p.Leu31881Arg)
c.77405T>G (p.Leu25802Arg)
c.67259T>G (p.Leu22420Arg)
 gnomAD v4
2g.178532105A>GCA349411506TTN,TTN-AS1c.96806T>C (p.Leu32269Pro)
c.77891T>C (p.Leu25964Pro)
c.77690T>C (p.Leu25897Pro)
c.77315T>C (p.Leu25772Pro)
c.104510T>C (p.Leu34837Pro)
c.99587T>C (p.Leu33196Pro)
n.446+8469A>G
n.220-3627A>G
c.103607T>C (p.Leu34536Pro)
c.77501T>C (p.Leu25834Pro)
c.77360T>C (p.Leu25787Pro)
c.103403T>C (p.Leu34468Pro)
c.98801T>C (p.Leu32934Pro)
c.98798T>C (p.Leu32933Pro)
c.95840T>C (p.Leu31947Pro)
c.77456T>C (p.Leu25819Pro)
c.98951T>C (p.Leu32984Pro)
c.98948T>C (p.Leu32983Pro)
c.98381T>C (p.Leu32794Pro)
c.95723T>C (p.Leu31908Pro)
c.95642T>C (p.Leu31881Pro)
c.77405T>C (p.Leu25802Pro)
c.67259T>C (p.Leu22420Pro)
2g.178532105A>TCA349411503TTN,TTN-AS1c.96806T>A (p.Leu32269Gln)
c.77891T>A (p.Leu25964Gln)
c.77690T>A (p.Leu25897Gln)
c.77315T>A (p.Leu25772Gln)
c.104510T>A (p.Leu34837Gln)
c.99587T>A (p.Leu33196Gln)
n.446+8469A>T
n.220-3627A>T
c.103607T>A (p.Leu34536Gln)
c.77501T>A (p.Leu25834Gln)
c.77360T>A (p.Leu25787Gln)
c.103403T>A (p.Leu34468Gln)
c.98801T>A (p.Leu32934Gln)
c.98798T>A (p.Leu32933Gln)
c.95840T>A (p.Leu31947Gln)
c.77456T>A (p.Leu25819Gln)
c.98951T>A (p.Leu32984Gln)
c.98948T>A (p.Leu32983Gln)
c.98381T>A (p.Leu32794Gln)
c.95723T>A (p.Leu31908Gln)
c.95642T>A (p.Leu31881Gln)
c.77405T>A (p.Leu25802Gln)
c.67259T>A (p.Leu22420Gln)
2g.178532105_178532106delCA2580064585TTN,TTN-AS1c.96805_96806del (p.Leu32269GlufsTer12)
c.77890_77891del (p.Leu25964GlufsTer12)
c.77689_77690del (p.Leu25897GlufsTer12)
c.77314_77315del (p.Leu25772GlufsTer12)
c.104509_104510del (p.Leu34837GlufsTer12)
c.99586_99587del (p.Leu33196GlufsTer12)
n.446+8469_446+8470del
n.220-3627_220-3626del
c.103606_103607del (p.Leu34536GlufsTer12)
c.77500_77501del (p.Leu25834GlufsTer12)
c.77359_77360del (p.Leu25787GlufsTer12)
c.103402_103403del (p.Leu34468GlufsTer12)
c.98800_98801del (p.Leu32934GlufsTer12)
c.98797_98798del (p.Leu32933GlufsTer12)
c.95839_95840del (p.Leu31947GlufsTer12)
c.77455_77456del (p.Leu25819GlufsTer12)
c.98950_98951del (p.Leu32984GlufsTer12)
c.98947_98948del (p.Leu32983GlufsTer12)
c.98380_98381del (p.Leu32794GlufsTer12)
c.95722_95723del (p.Leu31908GlufsTer12)
c.95641_95642del (p.Leu31881GlufsTer12)
c.77404_77405del (p.Leu25802GlufsTer12)
c.67258_67259del (p.Leu22420GlufsTer12)
 ClinVar
2g.178532108_178532110delCA1985414TTN,TTN-AS1c.96804_96806del (p.Leu32269del)
c.77889_77891del (p.Leu25964del)
c.77688_77690del (p.Leu25897del)
c.77313_77315del (p.Leu25772del)
c.104508_104510del (p.Leu34837del)
c.99585_99587del (p.Leu33196del)
n.446+8472_446+8474del
n.220-3624_220-3622del
c.103605_103607del (p.Leu34536del)
c.77499_77501del (p.Leu25834del)
c.77358_77360del (p.Leu25787del)
c.103401_103403del (p.Leu34468del)
c.98799_98801del (p.Leu32934del)
c.98796_98798del (p.Leu32933del)
c.95838_95840del (p.Leu31947del)
c.77454_77456del (p.Leu25819del)
c.98949_98951del (p.Leu32984del)
c.98946_98948del (p.Leu32983del)
c.98379_98381del (p.Leu32794del)
c.95721_95723del (p.Leu31908del)
c.95640_95642del (p.Leu31881del)
c.77403_77405del (p.Leu25802del)
c.67257_67259del (p.Leu22420del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178532106G>ACA430235867TTN,TTN-AS1c.96805C>T (p.Leu32269=)
c.77890C>T (p.Leu25964=)
c.77689C>T (p.Leu25897=)
c.77314C>T (p.Leu25772=)
c.104509C>T (p.Leu34837=)
c.99586C>T (p.Leu33196=)
n.446+8470G>A
n.220-3626G>A
c.103606C>T (p.Leu34536=)
c.77500C>T (p.Leu25834=)
c.77359C>T (p.Leu25787=)
c.103402C>T (p.Leu34468=)
c.98800C>T (p.Leu32934=)
c.98797C>T (p.Leu32933=)
c.95839C>T (p.Leu31947=)
c.77455C>T (p.Leu25819=)
c.98950C>T (p.Leu32984=)
c.98947C>T (p.Leu32983=)
c.98380C>T (p.Leu32794=)
c.95722C>T (p.Leu31908=)
c.95641C>T (p.Leu31881=)
c.77404C>T (p.Leu25802=)
c.67258C>T (p.Leu22420=)
 gnomAD v4
2g.178532106G>CCA349411509TTN,TTN-AS1c.96805C>G (p.Leu32269Val)
c.77890C>G (p.Leu25964Val)
c.77689C>G (p.Leu25897Val)
c.77314C>G (p.Leu25772Val)
c.104509C>G (p.Leu34837Val)
c.99586C>G (p.Leu33196Val)
n.446+8470G>C
n.220-3626G>C
c.103606C>G (p.Leu34536Val)
c.77500C>G (p.Leu25834Val)
c.77359C>G (p.Leu25787Val)
c.103402C>G (p.Leu34468Val)
c.98800C>G (p.Leu32934Val)
c.98797C>G (p.Leu32933Val)
c.95839C>G (p.Leu31947Val)
c.77455C>G (p.Leu25819Val)
c.98950C>G (p.Leu32984Val)
c.98947C>G (p.Leu32983Val)
c.98380C>G (p.Leu32794Val)
c.95722C>G (p.Leu31908Val)
c.95641C>G (p.Leu31881Val)
c.77404C>G (p.Leu25802Val)
c.67258C>G (p.Leu22420Val)
 ClinVar gnomAD v4
2g.178532106G>TCA349411511TTN,TTN-AS1c.96805C>A (p.Leu32269Met)
c.77890C>A (p.Leu25964Met)
c.77689C>A (p.Leu25897Met)
c.77314C>A (p.Leu25772Met)
c.104509C>A (p.Leu34837Met)
c.99586C>A (p.Leu33196Met)
n.446+8470G>T
n.220-3626G>T
c.103606C>A (p.Leu34536Met)
c.77500C>A (p.Leu25834Met)
c.77359C>A (p.Leu25787Met)
c.103402C>A (p.Leu34468Met)
c.98800C>A (p.Leu32934Met)
c.98797C>A (p.Leu32933Met)
c.95839C>A (p.Leu31947Met)
c.77455C>A (p.Leu25819Met)
c.98950C>A (p.Leu32984Met)
c.98947C>A (p.Leu32983Met)
c.98380C>A (p.Leu32794Met)
c.95722C>A (p.Leu31908Met)
c.95641C>A (p.Leu31881Met)
c.77404C>A (p.Leu25802Met)
c.67258C>A (p.Leu22420Met)
2g.178532107T>ACA430235868TTN,TTN-AS1c.96804A>T (p.Leu32268=)
c.77889A>T (p.Leu25963=)
c.77688A>T (p.Leu25896=)
c.77313A>T (p.Leu25771=)
c.104508A>T (p.Leu34836=)
c.99585A>T (p.Leu33195=)
n.446+8471T>A
n.220-3625T>A
c.103605A>T (p.Leu34535=)
c.77499A>T (p.Leu25833=)
c.77358A>T (p.Leu25786=)
c.103401A>T (p.Leu34467=)
c.98799A>T (p.Leu32933=)
c.98796A>T (p.Leu32932=)
c.95838A>T (p.Leu31946=)
c.77454A>T (p.Leu25818=)
c.98949A>T (p.Leu32983=)
c.98946A>T (p.Leu32982=)
c.98379A>T (p.Leu32793=)
c.95721A>T (p.Leu31907=)
c.95640A>T (p.Leu31880=)
c.77403A>T (p.Leu25801=)
c.67257A>T (p.Leu22419=)
2g.178532107T>CCA430235869TTN,TTN-AS1c.96804A>G (p.Leu32268=)
c.77889A>G (p.Leu25963=)
c.77688A>G (p.Leu25896=)
c.77313A>G (p.Leu25771=)
c.104508A>G (p.Leu34836=)
c.99585A>G (p.Leu33195=)
n.446+8471T>C
n.220-3625T>C
c.103605A>G (p.Leu34535=)
c.77499A>G (p.Leu25833=)
c.77358A>G (p.Leu25786=)
c.103401A>G (p.Leu34467=)
c.98799A>G (p.Leu32933=)
c.98796A>G (p.Leu32932=)
c.95838A>G (p.Leu31946=)
c.77454A>G (p.Leu25818=)
c.98949A>G (p.Leu32983=)
c.98946A>G (p.Leu32982=)
c.98379A>G (p.Leu32793=)
c.95721A>G (p.Leu31907=)
c.95640A>G (p.Leu31880=)
c.77403A>G (p.Leu25801=)
c.67257A>G (p.Leu22419=)
2g.178532107T>GCA430235870TTN,TTN-AS1c.96804A>C (p.Leu32268=)
c.77889A>C (p.Leu25963=)
c.77688A>C (p.Leu25896=)
c.77313A>C (p.Leu25771=)
c.104508A>C (p.Leu34836=)
c.99585A>C (p.Leu33195=)
n.446+8471T>G
n.220-3625T>G
c.103605A>C (p.Leu34535=)
c.77499A>C (p.Leu25833=)
c.77358A>C (p.Leu25786=)
c.103401A>C (p.Leu34467=)
c.98799A>C (p.Leu32933=)
c.98796A>C (p.Leu32932=)
c.95838A>C (p.Leu31946=)
c.77454A>C (p.Leu25818=)
c.98949A>C (p.Leu32983=)
c.98946A>C (p.Leu32982=)
c.98379A>C (p.Leu32793=)
c.95721A>C (p.Leu31907=)
c.95640A>C (p.Leu31880=)
c.77403A>C (p.Leu25801=)
c.67257A>C (p.Leu22419=)
2g.178532108A>CCA349411513TTN,TTN-AS1c.96803T>G (p.Leu32268Arg)
c.77888T>G (p.Leu25963Arg)
c.77687T>G (p.Leu25896Arg)
c.77312T>G (p.Leu25771Arg)
c.104507T>G (p.Leu34836Arg)
c.99584T>G (p.Leu33195Arg)
n.446+8472A>C
n.220-3624A>C
c.103604T>G (p.Leu34535Arg)
c.77498T>G (p.Leu25833Arg)
c.77357T>G (p.Leu25786Arg)
c.103400T>G (p.Leu34467Arg)
c.98798T>G (p.Leu32933Arg)
c.98795T>G (p.Leu32932Arg)
c.95837T>G (p.Leu31946Arg)
c.77453T>G (p.Leu25818Arg)
c.98948T>G (p.Leu32983Arg)
c.98945T>G (p.Leu32982Arg)
c.98378T>G (p.Leu32793Arg)
c.95720T>G (p.Leu31907Arg)
c.95639T>G (p.Leu31880Arg)
c.77402T>G (p.Leu25801Arg)
c.67256T>G (p.Leu22419Arg)
2g.178532108A>GCA349411514TTN,TTN-AS1c.96803T>C (p.Leu32268Pro)
c.77888T>C (p.Leu25963Pro)
c.77687T>C (p.Leu25896Pro)
c.77312T>C (p.Leu25771Pro)
c.104507T>C (p.Leu34836Pro)
c.99584T>C (p.Leu33195Pro)
n.446+8472A>G
n.220-3624A>G
c.103604T>C (p.Leu34535Pro)
c.77498T>C (p.Leu25833Pro)
c.77357T>C (p.Leu25786Pro)
c.103400T>C (p.Leu34467Pro)
c.98798T>C (p.Leu32933Pro)
c.98795T>C (p.Leu32932Pro)
c.95837T>C (p.Leu31946Pro)
c.77453T>C (p.Leu25818Pro)
c.98948T>C (p.Leu32983Pro)
c.98945T>C (p.Leu32982Pro)
c.98378T>C (p.Leu32793Pro)
c.95720T>C (p.Leu31907Pro)
c.95639T>C (p.Leu31880Pro)
c.77402T>C (p.Leu25801Pro)
c.67256T>C (p.Leu22419Pro)
2g.178532108A>TCA349411516TTN,TTN-AS1c.96803T>A (p.Leu32268Gln)
c.77888T>A (p.Leu25963Gln)
c.77687T>A (p.Leu25896Gln)
c.77312T>A (p.Leu25771Gln)
c.104507T>A (p.Leu34836Gln)
c.99584T>A (p.Leu33195Gln)
n.446+8472A>T
n.220-3624A>T
c.103604T>A (p.Leu34535Gln)
c.77498T>A (p.Leu25833Gln)
c.77357T>A (p.Leu25786Gln)
c.103400T>A (p.Leu34467Gln)
c.98798T>A (p.Leu32933Gln)
c.98795T>A (p.Leu32932Gln)
c.95837T>A (p.Leu31946Gln)
c.77453T>A (p.Leu25818Gln)
c.98948T>A (p.Leu32983Gln)
c.98945T>A (p.Leu32982Gln)
c.98378T>A (p.Leu32793Gln)
c.95720T>A (p.Leu31907Gln)
c.95639T>A (p.Leu31880Gln)
c.77402T>A (p.Leu25801Gln)
c.67256T>A (p.Leu22419Gln)
2g.178532109G>ACA430235871TTN,TTN-AS1c.96802C>T (p.Leu32268=)
c.77887C>T (p.Leu25963=)
c.77686C>T (p.Leu25896=)
c.77311C>T (p.Leu25771=)
c.104506C>T (p.Leu34836=)
c.99583C>T (p.Leu33195=)
n.446+8473G>A
n.220-3623G>A
c.103603C>T (p.Leu34535=)
c.77497C>T (p.Leu25833=)
c.77356C>T (p.Leu25786=)
c.103399C>T (p.Leu34467=)
c.98797C>T (p.Leu32933=)
c.98794C>T (p.Leu32932=)
c.95836C>T (p.Leu31946=)
c.77452C>T (p.Leu25818=)
c.98947C>T (p.Leu32983=)
c.98944C>T (p.Leu32982=)
c.98377C>T (p.Leu32793=)
c.95719C>T (p.Leu31907=)
c.95638C>T (p.Leu31880=)
c.77401C>T (p.Leu25801=)
c.67255C>T (p.Leu22419=)
 gnomAD v4
2g.178532109G>CCA349411517TTN,TTN-AS1c.96802C>G (p.Leu32268Val)
c.77887C>G (p.Leu25963Val)
c.77686C>G (p.Leu25896Val)
c.77311C>G (p.Leu25771Val)
c.104506C>G (p.Leu34836Val)
c.99583C>G (p.Leu33195Val)
n.446+8473G>C
n.220-3623G>C
c.103603C>G (p.Leu34535Val)
c.77497C>G (p.Leu25833Val)
c.77356C>G (p.Leu25786Val)
c.103399C>G (p.Leu34467Val)
c.98797C>G (p.Leu32933Val)
c.98794C>G (p.Leu32932Val)
c.95836C>G (p.Leu31946Val)
c.77452C>G (p.Leu25818Val)
c.98947C>G (p.Leu32983Val)
c.98944C>G (p.Leu32982Val)
c.98377C>G (p.Leu32793Val)
c.95719C>G (p.Leu31907Val)
c.95638C>G (p.Leu31880Val)
c.77401C>G (p.Leu25801Val)
c.67255C>G (p.Leu22419Val)
2g.178532109G=CA1310518082TTN,TTN-AS1c.96802C= (p.Leu32268=)
c.77887C= (p.Leu25963=)
c.77686C= (p.Leu25896=)
c.77311C= (p.Leu25771=)
c.104506C= (p.Leu34836=)
c.99583C= (p.Leu33195=)
n.446+8473G=
n.220-3623G=
c.103603C= (p.Leu34535=)
c.77497C= (p.Leu25833=)
c.77356C= (p.Leu25786=)
c.103399C= (p.Leu34467=)
c.98797C= (p.Leu32933=)
c.98794C= (p.Leu32932=)
c.95836C= (p.Leu31946=)
c.77452C= (p.Leu25818=)
c.98947C= (p.Leu32983=)
c.98944C= (p.Leu32982=)
c.98377C= (p.Leu32793=)
c.95719C= (p.Leu31907=)
c.95638C= (p.Leu31880=)
c.77401C= (p.Leu25801=)
c.67255C= (p.Leu22419=)
2g.178532109G>TCA349411519TTN,TTN-AS1c.96802C>A (p.Leu32268Ile)
c.77887C>A (p.Leu25963Ile)
c.77686C>A (p.Leu25896Ile)
c.77311C>A (p.Leu25771Ile)
c.104506C>A (p.Leu34836Ile)
c.99583C>A (p.Leu33195Ile)
n.446+8473G>T
n.220-3623G>T
c.103603C>A (p.Leu34535Ile)
c.77497C>A (p.Leu25833Ile)
c.77356C>A (p.Leu25786Ile)
c.103399C>A (p.Leu34467Ile)
c.98797C>A (p.Leu32933Ile)
c.98794C>A (p.Leu32932Ile)
c.95836C>A (p.Leu31946Ile)
c.77452C>A (p.Leu25818Ile)
c.98947C>A (p.Leu32983Ile)
c.98944C>A (p.Leu32982Ile)
c.98377C>A (p.Leu32793Ile)
c.95719C>A (p.Leu31907Ile)
c.95638C>A (p.Leu31880Ile)
c.77401C>A (p.Leu25801Ile)
c.67255C>A (p.Leu22419Ile)
 dbSNP gnomAD v3 gnomAD v4
2g.178532110T>ACA349411521TTN,TTN-AS1c.96801A>T (p.Arg32267Ser)
c.77886A>T (p.Arg25962Ser)
c.77685A>T (p.Arg25895Ser)
c.77310A>T (p.Arg25770Ser)
c.104505A>T (p.Arg34835Ser)
c.99582A>T (p.Arg33194Ser)
n.446+8474T>A
n.220-3622T>A
c.103602A>T (p.Arg34534Ser)
c.77496A>T (p.Arg25832Ser)
c.77355A>T (p.Arg25785Ser)
c.103398A>T (p.Arg34466Ser)
c.98796A>T (p.Arg32932Ser)
c.98793A>T (p.Arg32931Ser)
c.95835A>T (p.Arg31945Ser)
c.77451A>T (p.Arg25817Ser)
c.98946A>T (p.Arg32982Ser)
c.98943A>T (p.Arg32981Ser)
c.98376A>T (p.Arg32792Ser)
c.95718A>T (p.Arg31906Ser)
c.95637A>T (p.Arg31879Ser)
c.77400A>T (p.Arg25800Ser)
c.67254A>T (p.Arg22418Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.178532110T>CCA430235872TTN,TTN-AS1c.96801A>G (p.Arg32267=)
c.77886A>G (p.Arg25962=)
c.77685A>G (p.Arg25895=)
c.77310A>G (p.Arg25770=)
c.104505A>G (p.Arg34835=)
c.99582A>G (p.Arg33194=)
n.446+8474T>C
n.220-3622T>C
c.103602A>G (p.Arg34534=)
c.77496A>G (p.Arg25832=)
c.77355A>G (p.Arg25785=)
c.103398A>G (p.Arg34466=)
c.98796A>G (p.Arg32932=)
c.98793A>G (p.Arg32931=)
c.95835A>G (p.Arg31945=)
c.77451A>G (p.Arg25817=)
c.98946A>G (p.Arg32982=)
c.98943A>G (p.Arg32981=)
c.98376A>G (p.Arg32792=)
c.95718A>G (p.Arg31906=)
c.95637A>G (p.Arg31879=)
c.77400A>G (p.Arg25800=)
c.67254A>G (p.Arg22418=)
2g.178532110T>GCA349411522TTN,TTN-AS1c.96801A>C (p.Arg32267Ser)
c.77886A>C (p.Arg25962Ser)
c.77685A>C (p.Arg25895Ser)
c.77310A>C (p.Arg25770Ser)
c.104505A>C (p.Arg34835Ser)
c.99582A>C (p.Arg33194Ser)
n.446+8474T>G
n.220-3622T>G
c.103602A>C (p.Arg34534Ser)
c.77496A>C (p.Arg25832Ser)
c.77355A>C (p.Arg25785Ser)
c.103398A>C (p.Arg34466Ser)
c.98796A>C (p.Arg32932Ser)
c.98793A>C (p.Arg32931Ser)
c.95835A>C (p.Arg31945Ser)
c.77451A>C (p.Arg25817Ser)
c.98946A>C (p.Arg32982Ser)
c.98943A>C (p.Arg32981Ser)
c.98376A>C (p.Arg32792Ser)
c.95718A>C (p.Arg31906Ser)
c.95637A>C (p.Arg31879Ser)
c.77400A>C (p.Arg25800Ser)
c.67254A>C (p.Arg22418Ser)
2g.178532110T=CA1310518083TTN,TTN-AS1c.96801A= (p.Arg32267=)
c.77886A= (p.Arg25962=)
c.77685A= (p.Arg25895=)
c.77310A= (p.Arg25770=)
c.104505A= (p.Arg34835=)
c.99582A= (p.Arg33194=)
n.446+8474T=
n.220-3622T=
c.103602A= (p.Arg34534=)
c.77496A= (p.Arg25832=)
c.77355A= (p.Arg25785=)
c.103398A= (p.Arg34466=)
c.98796A= (p.Arg32932=)
c.98793A= (p.Arg32931=)
c.95835A= (p.Arg31945=)
c.77451A= (p.Arg25817=)
c.98946A= (p.Arg32982=)
c.98943A= (p.Arg32981=)
c.98376A= (p.Arg32792=)
c.95718A= (p.Arg31906=)
c.95637A= (p.Arg31879=)
c.77400A= (p.Arg25800=)
c.67254A= (p.Arg22418=)
2g.178532111C>ACA349411525TTN,TTN-AS1c.96800G>T (p.Arg32267Ile)
c.77885G>T (p.Arg25962Ile)
c.77684G>T (p.Arg25895Ile)
c.77309G>T (p.Arg25770Ile)
c.104504G>T (p.Arg34835Ile)
c.99581G>T (p.Arg33194Ile)
n.446+8475C>A
n.220-3621C>A
c.103601G>T (p.Arg34534Ile)
c.77495G>T (p.Arg25832Ile)
c.77354G>T (p.Arg25785Ile)
c.103397G>T (p.Arg34466Ile)
c.98795G>T (p.Arg32932Ile)
c.98792G>T (p.Arg32931Ile)
c.95834G>T (p.Arg31945Ile)
c.77450G>T (p.Arg25817Ile)
c.98945G>T (p.Arg32982Ile)
c.98942G>T (p.Arg32981Ile)
c.98375G>T (p.Arg32792Ile)
c.95717G>T (p.Arg31906Ile)
c.95636G>T (p.Arg31879Ile)
c.77399G>T (p.Arg25800Ile)
c.67253G>T (p.Arg22418Ile)
2g.178532111C>GCA349411526TTN,TTN-AS1c.96800G>C (p.Arg32267Thr)
c.77885G>C (p.Arg25962Thr)
c.77684G>C (p.Arg25895Thr)
c.77309G>C (p.Arg25770Thr)
c.104504G>C (p.Arg34835Thr)
c.99581G>C (p.Arg33194Thr)
n.446+8475C>G
n.220-3621C>G
c.103601G>C (p.Arg34534Thr)
c.77495G>C (p.Arg25832Thr)
c.77354G>C (p.Arg25785Thr)
c.103397G>C (p.Arg34466Thr)
c.98795G>C (p.Arg32932Thr)
c.98792G>C (p.Arg32931Thr)
c.95834G>C (p.Arg31945Thr)
c.77450G>C (p.Arg25817Thr)
c.98945G>C (p.Arg32982Thr)
c.98942G>C (p.Arg32981Thr)
c.98375G>C (p.Arg32792Thr)
c.95717G>C (p.Arg31906Thr)
c.95636G>C (p.Arg31879Thr)
c.77399G>C (p.Arg25800Thr)
c.67253G>C (p.Arg22418Thr)
 ClinVar dbSNP
2g.178532111C>TCA349411528TTN,TTN-AS1c.96800G>A (p.Arg32267Lys)
c.77885G>A (p.Arg25962Lys)
c.77684G>A (p.Arg25895Lys)
c.77309G>A (p.Arg25770Lys)
c.104504G>A (p.Arg34835Lys)
c.99581G>A (p.Arg33194Lys)
n.446+8475C>T
n.220-3621C>T
c.103601G>A (p.Arg34534Lys)
c.77495G>A (p.Arg25832Lys)
c.77354G>A (p.Arg25785Lys)
c.103397G>A (p.Arg34466Lys)
c.98795G>A (p.Arg32932Lys)
c.98792G>A (p.Arg32931Lys)
c.95834G>A (p.Arg31945Lys)
c.77450G>A (p.Arg25817Lys)
c.98945G>A (p.Arg32982Lys)
c.98942G>A (p.Arg32981Lys)
c.98375G>A (p.Arg32792Lys)
c.95717G>A (p.Arg31906Lys)
c.95636G>A (p.Arg31879Lys)
c.77399G>A (p.Arg25800Lys)
c.67253G>A (p.Arg22418Lys)
2g.178532112T>ACA349411531TTN,TTN-AS1c.96799A>T (p.Arg32267Ter)
c.77884A>T (p.Arg25962Ter)
c.77683A>T (p.Arg25895Ter)
c.77308A>T (p.Arg25770Ter)
c.104503A>T (p.Arg34835Ter)
c.99580A>T (p.Arg33194Ter)
n.446+8476T>A
n.220-3620T>A
c.103600A>T (p.Arg34534Ter)
c.77494A>T (p.Arg25832Ter)
c.77353A>T (p.Arg25785Ter)
c.103396A>T (p.Arg34466Ter)
c.98794A>T (p.Arg32932Ter)
c.98791A>T (p.Arg32931Ter)
c.95833A>T (p.Arg31945Ter)
c.77449A>T (p.Arg25817Ter)
c.98944A>T (p.Arg32982Ter)
c.98941A>T (p.Arg32981Ter)
c.98374A>T (p.Arg32792Ter)
c.95716A>T (p.Arg31906Ter)
c.95635A>T (p.Arg31879Ter)
c.77398A>T (p.Arg25800Ter)
c.67252A>T (p.Arg22418Ter)
2g.178532112T>CCA60956164TTN,TTN-AS1c.96799A>G (p.Arg32267Gly)
c.77884A>G (p.Arg25962Gly)
c.77683A>G (p.Arg25895Gly)
c.77308A>G (p.Arg25770Gly)
c.104503A>G (p.Arg34835Gly)
c.99580A>G (p.Arg33194Gly)
n.446+8476T>C
n.220-3620T>C
c.103600A>G (p.Arg34534Gly)
c.77494A>G (p.Arg25832Gly)
c.77353A>G (p.Arg25785Gly)
c.103396A>G (p.Arg34466Gly)
c.98794A>G (p.Arg32932Gly)
c.98791A>G (p.Arg32931Gly)
c.95833A>G (p.Arg31945Gly)
c.77449A>G (p.Arg25817Gly)
c.98944A>G (p.Arg32982Gly)
c.98941A>G (p.Arg32981Gly)
c.98374A>G (p.Arg32792Gly)
c.95716A>G (p.Arg31906Gly)
c.95635A>G (p.Arg31879Gly)
c.77398A>G (p.Arg25800Gly)
c.67252A>G (p.Arg22418Gly)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.178532112T>GCA430235873TTN,TTN-AS1c.96799A>C (p.Arg32267=)
c.77884A>C (p.Arg25962=)
c.77683A>C (p.Arg25895=)
c.77308A>C (p.Arg25770=)
c.104503A>C (p.Arg34835=)
c.99580A>C (p.Arg33194=)
n.446+8476T>G
n.220-3620T>G
c.103600A>C (p.Arg34534=)
c.77494A>C (p.Arg25832=)
c.77353A>C (p.Arg25785=)
c.103396A>C (p.Arg34466=)
c.98794A>C (p.Arg32932=)
c.98791A>C (p.Arg32931=)
c.95833A>C (p.Arg31945=)
c.77449A>C (p.Arg25817=)
c.98944A>C (p.Arg32982=)
c.98941A>C (p.Arg32981=)
c.98374A>C (p.Arg32792=)
c.95716A>C (p.Arg31906=)
c.95635A>C (p.Arg31879=)
c.77398A>C (p.Arg25800=)
c.67252A>C (p.Arg22418=)
2g.178532112T=CA1310518084TTN,TTN-AS1c.96799A= (p.Arg32267=)
c.77884A= (p.Arg25962=)
c.77683A= (p.Arg25895=)
c.77308A= (p.Arg25770=)
c.104503A= (p.Arg34835=)
c.99580A= (p.Arg33194=)
n.446+8476T=
n.220-3620T=
c.103600A= (p.Arg34534=)
c.77494A= (p.Arg25832=)
c.77353A= (p.Arg25785=)
c.103396A= (p.Arg34466=)
c.98794A= (p.Arg32932=)
c.98791A= (p.Arg32931=)
c.95833A= (p.Arg31945=)
c.77449A= (p.Arg25817=)
c.98944A= (p.Arg32982=)
c.98941A= (p.Arg32981=)
c.98374A= (p.Arg32792=)
c.95716A= (p.Arg31906=)
c.95635A= (p.Arg31879=)
c.77398A= (p.Arg25800=)
c.67252A= (p.Arg22418=)

Number of alleles fetched