Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.178545565_178545567delCA183358TTN,TTN-AS1c.87845_87847del (p.Lys29282del)
c.68930_68932del (p.Lys22977del)
c.68729_68731del (p.Lys22910del)
c.68354_68356del (p.Lys22785del)
c.95549_95551del (p.Lys31850del)
c.90626_90628del (p.Lys30209del)
n.446+21929_446+21931del
n.2043+3204_2043+3206del
c.94646_94648del (p.Lys31549del)
c.68540_68542del (p.Lys22847del)
c.68399_68401del (p.Lys22800del)
c.94442_94444del (p.Lys31481del)
c.89840_89842del (p.Lys29947del)
c.89837_89839del (p.Lys29946del)
c.86879_86881del (p.Lys28960del)
c.68495_68497del (p.Lys22832del)
c.89990_89992del (p.Lys29997del)
c.89987_89989del (p.Lys29996del)
c.89420_89422del (p.Lys29807del)
c.86762_86764del (p.Lys28921del)
c.86681_86683del (p.Lys28894del)
c.68444_68446del (p.Lys22815del)
c.58298_58300del (p.Lys19433del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178545562delCA16617333TTN,TTN-AS1c.87845del (p.Lys29282ArgfsTer19)
c.68930del (p.Lys22977ArgfsTer19)
c.68729del (p.Lys22910ArgfsTer19)
c.68354del (p.Lys22785ArgfsTer19)
c.95549del (p.Lys31850ArgfsTer19)
c.90626del (p.Lys30209ArgfsTer19)
n.446+21926del
n.2043+3201del
c.94646del (p.Lys31549ArgfsTer19)
c.68540del (p.Lys22847ArgfsTer19)
c.68399del (p.Lys22800ArgfsTer19)
c.94442del (p.Lys31481ArgfsTer19)
c.89840del (p.Lys29947ArgfsTer19)
c.89837del (p.Lys29946ArgfsTer19)
c.86879del (p.Lys28960ArgfsTer19)
c.68495del (p.Lys22832ArgfsTer19)
c.89990del (p.Lys29997ArgfsTer19)
c.89987del (p.Lys29996ArgfsTer19)
c.89420del (p.Lys29807ArgfsTer19)
c.86762del (p.Lys28921ArgfsTer19)
c.86681del (p.Lys28894ArgfsTer19)
c.68444del (p.Lys22815ArgfsTer19)
c.58298del (p.Lys19433ArgfsTer19)
 ClinVar dbSNP
2g.178545562T>ACA349460445TTN,TTN-AS1c.87844A>T (p.Lys29282Ter)
c.68929A>T (p.Lys22977Ter)
c.68728A>T (p.Lys22910Ter)
c.68353A>T (p.Lys22785Ter)
c.95548A>T (p.Lys31850Ter)
c.90625A>T (p.Lys30209Ter)
n.446+21926T>A
n.2043+3201T>A
c.94645A>T (p.Lys31549Ter)
c.68539A>T (p.Lys22847Ter)
c.68398A>T (p.Lys22800Ter)
c.94441A>T (p.Lys31481Ter)
c.89839A>T (p.Lys29947Ter)
c.89836A>T (p.Lys29946Ter)
c.86878A>T (p.Lys28960Ter)
c.68494A>T (p.Lys22832Ter)
c.89989A>T (p.Lys29997Ter)
c.89986A>T (p.Lys29996Ter)
c.89419A>T (p.Lys29807Ter)
c.86761A>T (p.Lys28921Ter)
c.86680A>T (p.Lys28894Ter)
c.68443A>T (p.Lys22815Ter)
c.58297A>T (p.Lys19433Ter)
2g.178545562T>CCA60971250TTN,TTN-AS1c.87844A>G (p.Lys29282Glu)
c.68929A>G (p.Lys22977Glu)
c.68728A>G (p.Lys22910Glu)
c.68353A>G (p.Lys22785Glu)
c.95548A>G (p.Lys31850Glu)
c.90625A>G (p.Lys30209Glu)
n.446+21926T>C
n.2043+3201T>C
c.94645A>G (p.Lys31549Glu)
c.68539A>G (p.Lys22847Glu)
c.68398A>G (p.Lys22800Glu)
c.94441A>G (p.Lys31481Glu)
c.89839A>G (p.Lys29947Glu)
c.89836A>G (p.Lys29946Glu)
c.86878A>G (p.Lys28960Glu)
c.68494A>G (p.Lys22832Glu)
c.89989A>G (p.Lys29997Glu)
c.89986A>G (p.Lys29996Glu)
c.89419A>G (p.Lys29807Glu)
c.86761A>G (p.Lys28921Glu)
c.86680A>G (p.Lys28894Glu)
c.68443A>G (p.Lys22815Glu)
c.58297A>G (p.Lys19433Glu)
 dbSNP
2g.178545562T>GCA349460446TTN,TTN-AS1c.87844A>C (p.Lys29282Gln)
c.68929A>C (p.Lys22977Gln)
c.68728A>C (p.Lys22910Gln)
c.68353A>C (p.Lys22785Gln)
c.95548A>C (p.Lys31850Gln)
c.90625A>C (p.Lys30209Gln)
n.446+21926T>G
n.2043+3201T>G
c.94645A>C (p.Lys31549Gln)
c.68539A>C (p.Lys22847Gln)
c.68398A>C (p.Lys22800Gln)
c.94441A>C (p.Lys31481Gln)
c.89839A>C (p.Lys29947Gln)
c.89836A>C (p.Lys29946Gln)
c.86878A>C (p.Lys28960Gln)
c.68494A>C (p.Lys22832Gln)
c.89989A>C (p.Lys29997Gln)
c.89986A>C (p.Lys29996Gln)
c.89419A>C (p.Lys29807Gln)
c.86761A>C (p.Lys28921Gln)
c.86680A>C (p.Lys28894Gln)
c.68443A>C (p.Lys22815Gln)
c.58297A>C (p.Lys19433Gln)
2g.178545562T=CA1310522282TTN,TTN-AS1c.87844A= (p.Lys29282=)
c.68929A= (p.Lys22977=)
c.68728A= (p.Lys22910=)
c.68353A= (p.Lys22785=)
c.95548A= (p.Lys31850=)
c.90625A= (p.Lys30209=)
n.446+21926T=
n.2043+3201T=
c.94645A= (p.Lys31549=)
c.68539A= (p.Lys22847=)
c.68398A= (p.Lys22800=)
c.94441A= (p.Lys31481=)
c.89839A= (p.Lys29947=)
c.89836A= (p.Lys29946=)
c.86878A= (p.Lys28960=)
c.68494A= (p.Lys22832=)
c.89989A= (p.Lys29997=)
c.89986A= (p.Lys29996=)
c.89419A= (p.Lys29807=)
c.86761A= (p.Lys28921=)
c.86680A= (p.Lys28894=)
c.68443A= (p.Lys22815=)
c.58297A= (p.Lys19433=)
2g.178545563C>ACA349460449TTN,TTN-AS1c.87843G>T (p.Lys29281Asn)
c.68928G>T (p.Lys22976Asn)
c.68727G>T (p.Lys22909Asn)
c.68352G>T (p.Lys22784Asn)
c.95547G>T (p.Lys31849Asn)
c.90624G>T (p.Lys30208Asn)
n.446+21927C>A
n.2043+3202C>A
c.94644G>T (p.Lys31548Asn)
c.68538G>T (p.Lys22846Asn)
c.68397G>T (p.Lys22799Asn)
c.94440G>T (p.Lys31480Asn)
c.89838G>T (p.Lys29946Asn)
c.89835G>T (p.Lys29945Asn)
c.86877G>T (p.Lys28959Asn)
c.68493G>T (p.Lys22831Asn)
c.89988G>T (p.Lys29996Asn)
c.89985G>T (p.Lys29995Asn)
c.89418G>T (p.Lys29806Asn)
c.86760G>T (p.Lys28920Asn)
c.86679G>T (p.Lys28893Asn)
c.68442G>T (p.Lys22814Asn)
c.58296G>T (p.Lys19432Asn)
2g.178545563C>GCA349460450TTN,TTN-AS1c.87843G>C (p.Lys29281Asn)
c.68928G>C (p.Lys22976Asn)
c.68727G>C (p.Lys22909Asn)
c.68352G>C (p.Lys22784Asn)
c.95547G>C (p.Lys31849Asn)
c.90624G>C (p.Lys30208Asn)
n.446+21927C>G
n.2043+3202C>G
c.94644G>C (p.Lys31548Asn)
c.68538G>C (p.Lys22846Asn)
c.68397G>C (p.Lys22799Asn)
c.94440G>C (p.Lys31480Asn)
c.89838G>C (p.Lys29946Asn)
c.89835G>C (p.Lys29945Asn)
c.86877G>C (p.Lys28959Asn)
c.68493G>C (p.Lys22831Asn)
c.89988G>C (p.Lys29996Asn)
c.89985G>C (p.Lys29995Asn)
c.89418G>C (p.Lys29806Asn)
c.86760G>C (p.Lys28920Asn)
c.86679G>C (p.Lys28893Asn)
c.68442G>C (p.Lys22814Asn)
c.58296G>C (p.Lys19432Asn)
2g.178545563C>TCA430241666TTN,TTN-AS1c.87843G>A (p.Lys29281=)
c.68928G>A (p.Lys22976=)
c.68727G>A (p.Lys22909=)
c.68352G>A (p.Lys22784=)
c.95547G>A (p.Lys31849=)
c.90624G>A (p.Lys30208=)
n.446+21927C>T
n.2043+3202C>T
c.94644G>A (p.Lys31548=)
c.68538G>A (p.Lys22846=)
c.68397G>A (p.Lys22799=)
c.94440G>A (p.Lys31480=)
c.89838G>A (p.Lys29946=)
c.89835G>A (p.Lys29945=)
c.86877G>A (p.Lys28959=)
c.68493G>A (p.Lys22831=)
c.89988G>A (p.Lys29996=)
c.89985G>A (p.Lys29995=)
c.89418G>A (p.Lys29806=)
c.86760G>A (p.Lys28920=)
c.86679G>A (p.Lys28893=)
c.68442G>A (p.Lys22814=)
c.58296G>A (p.Lys19432=)
2g.178545564T>ACA349460463TTN,TTN-AS1c.87842A>T (p.Lys29281Met)
c.68927A>T (p.Lys22976Met)
c.68726A>T (p.Lys22909Met)
c.68351A>T (p.Lys22784Met)
c.95546A>T (p.Lys31849Met)
c.90623A>T (p.Lys30208Met)
n.446+21928T>A
n.2043+3203T>A
c.94643A>T (p.Lys31548Met)
c.68537A>T (p.Lys22846Met)
c.68396A>T (p.Lys22799Met)
c.94439A>T (p.Lys31480Met)
c.89837A>T (p.Lys29946Met)
c.89834A>T (p.Lys29945Met)
c.86876A>T (p.Lys28959Met)
c.68492A>T (p.Lys22831Met)
c.89987A>T (p.Lys29996Met)
c.89984A>T (p.Lys29995Met)
c.89417A>T (p.Lys29806Met)
c.86759A>T (p.Lys28920Met)
c.86678A>T (p.Lys28893Met)
c.68441A>T (p.Lys22814Met)
c.58295A>T (p.Lys19432Met)
2g.178545564T>CCA349460458TTN,TTN-AS1c.87842A>G (p.Lys29281Arg)
c.68927A>G (p.Lys22976Arg)
c.68726A>G (p.Lys22909Arg)
c.68351A>G (p.Lys22784Arg)
c.95546A>G (p.Lys31849Arg)
c.90623A>G (p.Lys30208Arg)
n.446+21928T>C
n.2043+3203T>C
c.94643A>G (p.Lys31548Arg)
c.68537A>G (p.Lys22846Arg)
c.68396A>G (p.Lys22799Arg)
c.94439A>G (p.Lys31480Arg)
c.89837A>G (p.Lys29946Arg)
c.89834A>G (p.Lys29945Arg)
c.86876A>G (p.Lys28959Arg)
c.68492A>G (p.Lys22831Arg)
c.89987A>G (p.Lys29996Arg)
c.89984A>G (p.Lys29995Arg)
c.89417A>G (p.Lys29806Arg)
c.86759A>G (p.Lys28920Arg)
c.86678A>G (p.Lys28893Arg)
c.68441A>G (p.Lys22814Arg)
c.58295A>G (p.Lys19432Arg)
2g.178545564T>GCA349460457TTN,TTN-AS1c.87842A>C (p.Lys29281Thr)
c.68927A>C (p.Lys22976Thr)
c.68726A>C (p.Lys22909Thr)
c.68351A>C (p.Lys22784Thr)
c.95546A>C (p.Lys31849Thr)
c.90623A>C (p.Lys30208Thr)
n.446+21928T>G
n.2043+3203T>G
c.94643A>C (p.Lys31548Thr)
c.68537A>C (p.Lys22846Thr)
c.68396A>C (p.Lys22799Thr)
c.94439A>C (p.Lys31480Thr)
c.89837A>C (p.Lys29946Thr)
c.89834A>C (p.Lys29945Thr)
c.86876A>C (p.Lys28959Thr)
c.68492A>C (p.Lys22831Thr)
c.89987A>C (p.Lys29996Thr)
c.89984A>C (p.Lys29995Thr)
c.89417A>C (p.Lys29806Thr)
c.86759A>C (p.Lys28920Thr)
c.86678A>C (p.Lys28893Thr)
c.68441A>C (p.Lys22814Thr)
c.58295A>C (p.Lys19432Thr)
2g.178545565T>ACA349460465TTN,TTN-AS1c.87841A>T (p.Lys29281Ter)
c.68926A>T (p.Lys22976Ter)
c.68725A>T (p.Lys22909Ter)
c.68350A>T (p.Lys22784Ter)
c.95545A>T (p.Lys31849Ter)
c.90622A>T (p.Lys30208Ter)
n.446+21929T>A
n.2043+3204T>A
c.94642A>T (p.Lys31548Ter)
c.68536A>T (p.Lys22846Ter)
c.68395A>T (p.Lys22799Ter)
c.94438A>T (p.Lys31480Ter)
c.89836A>T (p.Lys29946Ter)
c.89833A>T (p.Lys29945Ter)
c.86875A>T (p.Lys28959Ter)
c.68491A>T (p.Lys22831Ter)
c.89986A>T (p.Lys29996Ter)
c.89983A>T (p.Lys29995Ter)
c.89416A>T (p.Lys29806Ter)
c.86758A>T (p.Lys28920Ter)
c.86677A>T (p.Lys28893Ter)
c.68440A>T (p.Lys22814Ter)
c.58294A>T (p.Lys19432Ter)
2g.178545565T>CCA349460474TTN,TTN-AS1c.87841A>G (p.Lys29281Glu)
c.68926A>G (p.Lys22976Glu)
c.68725A>G (p.Lys22909Glu)
c.68350A>G (p.Lys22784Glu)
c.95545A>G (p.Lys31849Glu)
c.90622A>G (p.Lys30208Glu)
n.446+21929T>C
n.2043+3204T>C
c.94642A>G (p.Lys31548Glu)
c.68536A>G (p.Lys22846Glu)
c.68395A>G (p.Lys22799Glu)
c.94438A>G (p.Lys31480Glu)
c.89836A>G (p.Lys29946Glu)
c.89833A>G (p.Lys29945Glu)
c.86875A>G (p.Lys28959Glu)
c.68491A>G (p.Lys22831Glu)
c.89986A>G (p.Lys29996Glu)
c.89983A>G (p.Lys29995Glu)
c.89416A>G (p.Lys29806Glu)
c.86758A>G (p.Lys28920Glu)
c.86677A>G (p.Lys28893Glu)
c.68440A>G (p.Lys22814Glu)
c.58294A>G (p.Lys19432Glu)
2g.178545565T>GCA349460472TTN,TTN-AS1c.87841A>C (p.Lys29281Gln)
c.68926A>C (p.Lys22976Gln)
c.68725A>C (p.Lys22909Gln)
c.68350A>C (p.Lys22784Gln)
c.95545A>C (p.Lys31849Gln)
c.90622A>C (p.Lys30208Gln)
n.446+21929T>G
n.2043+3204T>G
c.94642A>C (p.Lys31548Gln)
c.68536A>C (p.Lys22846Gln)
c.68395A>C (p.Lys22799Gln)
c.94438A>C (p.Lys31480Gln)
c.89836A>C (p.Lys29946Gln)
c.89833A>C (p.Lys29945Gln)
c.86875A>C (p.Lys28959Gln)
c.68491A>C (p.Lys22831Gln)
c.89986A>C (p.Lys29996Gln)
c.89983A>C (p.Lys29995Gln)
c.89416A>C (p.Lys29806Gln)
c.86758A>C (p.Lys28920Gln)
c.86677A>C (p.Lys28893Gln)
c.68440A>C (p.Lys22814Gln)
c.58294A>C (p.Lys19432Gln)
2g.178545566C>ACA349460476TTN,TTN-AS1c.87840G>T (p.Glu29280Asp)
c.68925G>T (p.Glu22975Asp)
c.68724G>T (p.Glu22908Asp)
c.68349G>T (p.Glu22783Asp)
c.95544G>T (p.Glu31848Asp)
c.90621G>T (p.Glu30207Asp)
n.446+21930C>A
n.2043+3205C>A
c.94641G>T (p.Glu31547Asp)
c.68535G>T (p.Glu22845Asp)
c.68394G>T (p.Glu22798Asp)
c.94437G>T (p.Glu31479Asp)
c.89835G>T (p.Glu29945Asp)
c.89832G>T (p.Glu29944Asp)
c.86874G>T (p.Glu28958Asp)
c.68490G>T (p.Glu22830Asp)
c.89985G>T (p.Glu29995Asp)
c.89982G>T (p.Glu29994Asp)
c.89415G>T (p.Glu29805Asp)
c.86757G>T (p.Glu28919Asp)
c.86676G>T (p.Glu28892Asp)
c.68439G>T (p.Glu22813Asp)
c.58293G>T (p.Glu19431Asp)
2g.178545566C=CA1310522284TTN,TTN-AS1c.87840G= (p.Glu29280=)
c.68925G= (p.Glu22975=)
c.68724G= (p.Glu22908=)
c.68349G= (p.Glu22783=)
c.95544G= (p.Glu31848=)
c.90621G= (p.Glu30207=)
n.446+21930C=
n.2043+3205C=
c.94641G= (p.Glu31547=)
c.68535G= (p.Glu22845=)
c.68394G= (p.Glu22798=)
c.94437G= (p.Glu31479=)
c.89835G= (p.Glu29945=)
c.89832G= (p.Glu29944=)
c.86874G= (p.Glu28958=)
c.68490G= (p.Glu22830=)
c.89985G= (p.Glu29995=)
c.89982G= (p.Glu29994=)
c.89415G= (p.Glu29805=)
c.86757G= (p.Glu28919=)
c.86676G= (p.Glu28892=)
c.68439G= (p.Glu22813=)
c.58293G= (p.Glu19431=)
2g.178545566C>GCA349460477TTN,TTN-AS1c.87840G>C (p.Glu29280Asp)
c.68925G>C (p.Glu22975Asp)
c.68724G>C (p.Glu22908Asp)
c.68349G>C (p.Glu22783Asp)
c.95544G>C (p.Glu31848Asp)
c.90621G>C (p.Glu30207Asp)
n.446+21930C>G
n.2043+3205C>G
c.94641G>C (p.Glu31547Asp)
c.68535G>C (p.Glu22845Asp)
c.68394G>C (p.Glu22798Asp)
c.94437G>C (p.Glu31479Asp)
c.89835G>C (p.Glu29945Asp)
c.89832G>C (p.Glu29944Asp)
c.86874G>C (p.Glu28958Asp)
c.68490G>C (p.Glu22830Asp)
c.89985G>C (p.Glu29995Asp)
c.89982G>C (p.Glu29994Asp)
c.89415G>C (p.Glu29805Asp)
c.86757G>C (p.Glu28919Asp)
c.86676G>C (p.Glu28892Asp)
c.68439G>C (p.Glu22813Asp)
c.58293G>C (p.Glu19431Asp)
2g.178545566C>TCA1986935TTN,TTN-AS1c.87840G>A (p.Glu29280=)
c.68925G>A (p.Glu22975=)
c.68724G>A (p.Glu22908=)
c.68349G>A (p.Glu22783=)
c.95544G>A (p.Glu31848=)
c.90621G>A (p.Glu30207=)
n.446+21930C>T
n.2043+3205C>T
c.94641G>A (p.Glu31547=)
c.68535G>A (p.Glu22845=)
c.68394G>A (p.Glu22798=)
c.94437G>A (p.Glu31479=)
c.89835G>A (p.Glu29945=)
c.89832G>A (p.Glu29944=)
c.86874G>A (p.Glu28958=)
c.68490G>A (p.Glu22830=)
c.89985G>A (p.Glu29995=)
c.89982G>A (p.Glu29994=)
c.89415G>A (p.Glu29805=)
c.86757G>A (p.Glu28919=)
c.86676G>A (p.Glu28892=)
c.68439G>A (p.Glu22813=)
c.58293G>A (p.Glu19431=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178545567T>ACA349460479TTN,TTN-AS1c.87839A>T (p.Glu29280Val)
c.68924A>T (p.Glu22975Val)
c.68723A>T (p.Glu22908Val)
c.68348A>T (p.Glu22783Val)
c.95543A>T (p.Glu31848Val)
c.90620A>T (p.Glu30207Val)
n.446+21931T>A
n.2043+3206T>A
c.94640A>T (p.Glu31547Val)
c.68534A>T (p.Glu22845Val)
c.68393A>T (p.Glu22798Val)
c.94436A>T (p.Glu31479Val)
c.89834A>T (p.Glu29945Val)
c.89831A>T (p.Glu29944Val)
c.86873A>T (p.Glu28958Val)
c.68489A>T (p.Glu22830Val)
c.89984A>T (p.Glu29995Val)
c.89981A>T (p.Glu29994Val)
c.89414A>T (p.Glu29805Val)
c.86756A>T (p.Glu28919Val)
c.86675A>T (p.Glu28892Val)
c.68438A>T (p.Glu22813Val)
c.58292A>T (p.Glu19431Val)
2g.178545567T>CCA349460481TTN,TTN-AS1c.87839A>G (p.Glu29280Gly)
c.68924A>G (p.Glu22975Gly)
c.68723A>G (p.Glu22908Gly)
c.68348A>G (p.Glu22783Gly)
c.95543A>G (p.Glu31848Gly)
c.90620A>G (p.Glu30207Gly)
n.446+21931T>C
n.2043+3206T>C
c.94640A>G (p.Glu31547Gly)
c.68534A>G (p.Glu22845Gly)
c.68393A>G (p.Glu22798Gly)
c.94436A>G (p.Glu31479Gly)
c.89834A>G (p.Glu29945Gly)
c.89831A>G (p.Glu29944Gly)
c.86873A>G (p.Glu28958Gly)
c.68489A>G (p.Glu22830Gly)
c.89984A>G (p.Glu29995Gly)
c.89981A>G (p.Glu29994Gly)
c.89414A>G (p.Glu29805Gly)
c.86756A>G (p.Glu28919Gly)
c.86675A>G (p.Glu28892Gly)
c.68438A>G (p.Glu22813Gly)
c.58292A>G (p.Glu19431Gly)
2g.178545567T>GCA349460483TTN,TTN-AS1c.87839A>C (p.Glu29280Ala)
c.68924A>C (p.Glu22975Ala)
c.68723A>C (p.Glu22908Ala)
c.68348A>C (p.Glu22783Ala)
c.95543A>C (p.Glu31848Ala)
c.90620A>C (p.Glu30207Ala)
n.446+21931T>G
n.2043+3206T>G
c.94640A>C (p.Glu31547Ala)
c.68534A>C (p.Glu22845Ala)
c.68393A>C (p.Glu22798Ala)
c.94436A>C (p.Glu31479Ala)
c.89834A>C (p.Glu29945Ala)
c.89831A>C (p.Glu29944Ala)
c.86873A>C (p.Glu28958Ala)
c.68489A>C (p.Glu22830Ala)
c.89984A>C (p.Glu29995Ala)
c.89981A>C (p.Glu29994Ala)
c.89414A>C (p.Glu29805Ala)
c.86756A>C (p.Glu28919Ala)
c.86675A>C (p.Glu28892Ala)
c.68438A>C (p.Glu22813Ala)
c.58292A>C (p.Glu19431Ala)
2g.178545568C>ACA349460485TTN,TTN-AS1c.87838G>T (p.Glu29280Ter)
c.68923G>T (p.Glu22975Ter)
c.68722G>T (p.Glu22908Ter)
c.68347G>T (p.Glu22783Ter)
c.95542G>T (p.Glu31848Ter)
c.90619G>T (p.Glu30207Ter)
n.446+21932C>A
n.2043+3207C>A
c.94639G>T (p.Glu31547Ter)
c.68533G>T (p.Glu22845Ter)
c.68392G>T (p.Glu22798Ter)
c.94435G>T (p.Glu31479Ter)
c.89833G>T (p.Glu29945Ter)
c.89830G>T (p.Glu29944Ter)
c.86872G>T (p.Glu28958Ter)
c.68488G>T (p.Glu22830Ter)
c.89983G>T (p.Glu29995Ter)
c.89980G>T (p.Glu29994Ter)
c.89413G>T (p.Glu29805Ter)
c.86755G>T (p.Glu28919Ter)
c.86674G>T (p.Glu28892Ter)
c.68437G>T (p.Glu22813Ter)
c.58291G>T (p.Glu19431Ter)
2g.178545568C>GCA349460486TTN,TTN-AS1c.87838G>C (p.Glu29280Gln)
c.68923G>C (p.Glu22975Gln)
c.68722G>C (p.Glu22908Gln)
c.68347G>C (p.Glu22783Gln)
c.95542G>C (p.Glu31848Gln)
c.90619G>C (p.Glu30207Gln)
n.446+21932C>G
n.2043+3207C>G
c.94639G>C (p.Glu31547Gln)
c.68533G>C (p.Glu22845Gln)
c.68392G>C (p.Glu22798Gln)
c.94435G>C (p.Glu31479Gln)
c.89833G>C (p.Glu29945Gln)
c.89830G>C (p.Glu29944Gln)
c.86872G>C (p.Glu28958Gln)
c.68488G>C (p.Glu22830Gln)
c.89983G>C (p.Glu29995Gln)
c.89980G>C (p.Glu29994Gln)
c.89413G>C (p.Glu29805Gln)
c.86755G>C (p.Glu28919Gln)
c.86674G>C (p.Glu28892Gln)
c.68437G>C (p.Glu22813Gln)
c.58291G>C (p.Glu19431Gln)
2g.178545568C>TCA349460488TTN,TTN-AS1c.87838G>A (p.Glu29280Lys)
c.68923G>A (p.Glu22975Lys)
c.68722G>A (p.Glu22908Lys)
c.68347G>A (p.Glu22783Lys)
c.95542G>A (p.Glu31848Lys)
c.90619G>A (p.Glu30207Lys)
n.446+21932C>T
n.2043+3207C>T
c.94639G>A (p.Glu31547Lys)
c.68533G>A (p.Glu22845Lys)
c.68392G>A (p.Glu22798Lys)
c.94435G>A (p.Glu31479Lys)
c.89833G>A (p.Glu29945Lys)
c.89830G>A (p.Glu29944Lys)
c.86872G>A (p.Glu28958Lys)
c.68488G>A (p.Glu22830Lys)
c.89983G>A (p.Glu29995Lys)
c.89980G>A (p.Glu29994Lys)
c.89413G>A (p.Glu29805Lys)
c.86755G>A (p.Glu28919Lys)
c.86674G>A (p.Glu28892Lys)
c.68437G>A (p.Glu22813Lys)
c.58291G>A (p.Glu19431Lys)
2g.178545569A=CA1310522287TTN,TTN-AS1c.87837T= (p.Arg29279=)
c.68922T= (p.Arg22974=)
c.68721T= (p.Arg22907=)
c.68346T= (p.Arg22782=)
c.95541T= (p.Arg31847=)
c.90618T= (p.Arg30206=)
n.446+21933A=
n.2043+3208A=
c.94638T= (p.Arg31546=)
c.68532T= (p.Arg22844=)
c.68391T= (p.Arg22797=)
c.94434T= (p.Arg31478=)
c.89832T= (p.Arg29944=)
c.89829T= (p.Arg29943=)
c.86871T= (p.Arg28957=)
c.68487T= (p.Arg22829=)
c.89982T= (p.Arg29994=)
c.89979T= (p.Arg29993=)
c.89412T= (p.Arg29804=)
c.86754T= (p.Arg28918=)
c.86673T= (p.Arg28891=)
c.68436T= (p.Arg22812=)
c.58290T= (p.Arg19430=)
2g.178545569A>CCA1986936TTN,TTN-AS1c.87837T>G (p.Arg29279=)
c.68922T>G (p.Arg22974=)
c.68721T>G (p.Arg22907=)
c.68346T>G (p.Arg22782=)
c.95541T>G (p.Arg31847=)
c.90618T>G (p.Arg30206=)
n.446+21933A>C
n.2043+3208A>C
c.94638T>G (p.Arg31546=)
c.68532T>G (p.Arg22844=)
c.68391T>G (p.Arg22797=)
c.94434T>G (p.Arg31478=)
c.89832T>G (p.Arg29944=)
c.89829T>G (p.Arg29943=)
c.86871T>G (p.Arg28957=)
c.68487T>G (p.Arg22829=)
c.89982T>G (p.Arg29994=)
c.89979T>G (p.Arg29993=)
c.89412T>G (p.Arg29804=)
c.86754T>G (p.Arg28918=)
c.86673T>G (p.Arg28891=)
c.68436T>G (p.Arg22812=)
c.58290T>G (p.Arg19430=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178545569A>GCA430241687TTN,TTN-AS1c.87837T>C (p.Arg29279=)
c.68922T>C (p.Arg22974=)
c.68721T>C (p.Arg22907=)
c.68346T>C (p.Arg22782=)
c.95541T>C (p.Arg31847=)
c.90618T>C (p.Arg30206=)
n.446+21933A>G
n.2043+3208A>G
c.94638T>C (p.Arg31546=)
c.68532T>C (p.Arg22844=)
c.68391T>C (p.Arg22797=)
c.94434T>C (p.Arg31478=)
c.89832T>C (p.Arg29944=)
c.89829T>C (p.Arg29943=)
c.86871T>C (p.Arg28957=)
c.68487T>C (p.Arg22829=)
c.89982T>C (p.Arg29994=)
c.89979T>C (p.Arg29993=)
c.89412T>C (p.Arg29804=)
c.86754T>C (p.Arg28918=)
c.86673T>C (p.Arg28891=)
c.68436T>C (p.Arg22812=)
c.58290T>C (p.Arg19430=)
2g.178545569A>TCA430241689TTN,TTN-AS1c.87837T>A (p.Arg29279=)
c.68922T>A (p.Arg22974=)
c.68721T>A (p.Arg22907=)
c.68346T>A (p.Arg22782=)
c.95541T>A (p.Arg31847=)
c.90618T>A (p.Arg30206=)
n.446+21933A>T
n.2043+3208A>T
c.94638T>A (p.Arg31546=)
c.68532T>A (p.Arg22844=)
c.68391T>A (p.Arg22797=)
c.94434T>A (p.Arg31478=)
c.89832T>A (p.Arg29944=)
c.89829T>A (p.Arg29943=)
c.86871T>A (p.Arg28957=)
c.68487T>A (p.Arg22829=)
c.89982T>A (p.Arg29994=)
c.89979T>A (p.Arg29993=)
c.89412T>A (p.Arg29804=)
c.86754T>A (p.Arg28918=)
c.86673T>A (p.Arg28891=)
c.68436T>A (p.Arg22812=)
c.58290T>A (p.Arg19430=)
2g.178545569dupCA2662124640TTN,TTN-AS1c.87837dup (p.Glu29280Ter)
c.68922dup (p.Glu22975Ter)
c.68721dup (p.Glu22908Ter)
c.68346dup (p.Glu22783Ter)
c.95541dup (p.Glu31848Ter)
c.90618dup (p.Glu30207Ter)
n.446+21933dup
n.2043+3208dup
c.94638dup (p.Glu31547Ter)
c.68532dup (p.Glu22845Ter)
c.68391dup (p.Glu22798Ter)
c.94434dup (p.Glu31479Ter)
c.89832dup (p.Glu29945Ter)
c.89829dup (p.Glu29944Ter)
c.86871dup (p.Glu28958Ter)
c.68487dup (p.Glu22830Ter)
c.89982dup (p.Glu29995Ter)
c.89979dup (p.Glu29994Ter)
c.89412dup (p.Glu29805Ter)
c.86754dup (p.Glu28919Ter)
c.86673dup (p.Glu28892Ter)
c.68436dup (p.Glu22813Ter)
c.58290dup (p.Glu19431Ter)
 gnomAD v4
2g.178545570C>ACA349460503TTN,TTN-AS1c.87836G>T (p.Arg29279Leu)
c.68921G>T (p.Arg22974Leu)
c.68720G>T (p.Arg22907Leu)
c.68345G>T (p.Arg22782Leu)
c.95540G>T (p.Arg31847Leu)
c.90617G>T (p.Arg30206Leu)
n.446+21934C>A
n.2043+3209C>A
c.94637G>T (p.Arg31546Leu)
c.68531G>T (p.Arg22844Leu)
c.68390G>T (p.Arg22797Leu)
c.94433G>T (p.Arg31478Leu)
c.89831G>T (p.Arg29944Leu)
c.89828G>T (p.Arg29943Leu)
c.86870G>T (p.Arg28957Leu)
c.68486G>T (p.Arg22829Leu)
c.89981G>T (p.Arg29994Leu)
c.89978G>T (p.Arg29993Leu)
c.89411G>T (p.Arg29804Leu)
c.86753G>T (p.Arg28918Leu)
c.86672G>T (p.Arg28891Leu)
c.68435G>T (p.Arg22812Leu)
c.58289G>T (p.Arg19430Leu)
2g.178545570C=CA1310522289TTN,TTN-AS1c.87836G= (p.Arg29279=)
c.68921G= (p.Arg22974=)
c.68720G= (p.Arg22907=)
c.68345G= (p.Arg22782=)
c.95540G= (p.Arg31847=)
c.90617G= (p.Arg30206=)
n.446+21934C=
n.2043+3209C=
c.94637G= (p.Arg31546=)
c.68531G= (p.Arg22844=)
c.68390G= (p.Arg22797=)
c.94433G= (p.Arg31478=)
c.89831G= (p.Arg29944=)
c.89828G= (p.Arg29943=)
c.86870G= (p.Arg28957=)
c.68486G= (p.Arg22829=)
c.89981G= (p.Arg29994=)
c.89978G= (p.Arg29993=)
c.89411G= (p.Arg29804=)
c.86753G= (p.Arg28918=)
c.86672G= (p.Arg28891=)
c.68435G= (p.Arg22812=)
c.58289G= (p.Arg19430=)
2g.178545570C>GCA349460506TTN,TTN-AS1c.87836G>C (p.Arg29279Pro)
c.68921G>C (p.Arg22974Pro)
c.68720G>C (p.Arg22907Pro)
c.68345G>C (p.Arg22782Pro)
c.95540G>C (p.Arg31847Pro)
c.90617G>C (p.Arg30206Pro)
n.446+21934C>G
n.2043+3209C>G
c.94637G>C (p.Arg31546Pro)
c.68531G>C (p.Arg22844Pro)
c.68390G>C (p.Arg22797Pro)
c.94433G>C (p.Arg31478Pro)
c.89831G>C (p.Arg29944Pro)
c.89828G>C (p.Arg29943Pro)
c.86870G>C (p.Arg28957Pro)
c.68486G>C (p.Arg22829Pro)
c.89981G>C (p.Arg29994Pro)
c.89978G>C (p.Arg29993Pro)
c.89411G>C (p.Arg29804Pro)
c.86753G>C (p.Arg28918Pro)
c.86672G>C (p.Arg28891Pro)
c.68435G>C (p.Arg22812Pro)
c.58289G>C (p.Arg19430Pro)
 ClinVar dbSNP gnomAD v4
2g.178545570C>TCA1986937TTN,TTN-AS1c.87836G>A (p.Arg29279His)
c.68921G>A (p.Arg22974His)
c.68720G>A (p.Arg22907His)
c.68345G>A (p.Arg22782His)
c.95540G>A (p.Arg31847His)
c.90617G>A (p.Arg30206His)
n.446+21934C>T
n.2043+3209C>T
c.94637G>A (p.Arg31546His)
c.68531G>A (p.Arg22844His)
c.68390G>A (p.Arg22797His)
c.94433G>A (p.Arg31478His)
c.89831G>A (p.Arg29944His)
c.89828G>A (p.Arg29943His)
c.86870G>A (p.Arg28957His)
c.68486G>A (p.Arg22829His)
c.89981G>A (p.Arg29994His)
c.89978G>A (p.Arg29993His)
c.89411G>A (p.Arg29804His)
c.86753G>A (p.Arg28918His)
c.86672G>A (p.Arg28891His)
c.68435G>A (p.Arg22812His)
c.58289G>A (p.Arg19430His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
2g.178545571G>ACA1986938TTN,TTN-AS1c.87835C>T (p.Arg29279Cys)
c.68920C>T (p.Arg22974Cys)
c.68719C>T (p.Arg22907Cys)
c.68344C>T (p.Arg22782Cys)
c.95539C>T (p.Arg31847Cys)
c.90616C>T (p.Arg30206Cys)
n.446+21935G>A
n.2043+3210G>A
c.94636C>T (p.Arg31546Cys)
c.68530C>T (p.Arg22844Cys)
c.68389C>T (p.Arg22797Cys)
c.94432C>T (p.Arg31478Cys)
c.89830C>T (p.Arg29944Cys)
c.89827C>T (p.Arg29943Cys)
c.86869C>T (p.Arg28957Cys)
c.68485C>T (p.Arg22829Cys)
c.89980C>T (p.Arg29994Cys)
c.89977C>T (p.Arg29993Cys)
c.89410C>T (p.Arg29804Cys)
c.86752C>T (p.Arg28918Cys)
c.86671C>T (p.Arg28891Cys)
c.68434C>T (p.Arg22812Cys)
c.58288C>T (p.Arg19430Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178545571G>CCA349460518TTN,TTN-AS1c.87835C>G (p.Arg29279Gly)
c.68920C>G (p.Arg22974Gly)
c.68719C>G (p.Arg22907Gly)
c.68344C>G (p.Arg22782Gly)
c.95539C>G (p.Arg31847Gly)
c.90616C>G (p.Arg30206Gly)
n.446+21935G>C
n.2043+3210G>C
c.94636C>G (p.Arg31546Gly)
c.68530C>G (p.Arg22844Gly)
c.68389C>G (p.Arg22797Gly)
c.94432C>G (p.Arg31478Gly)
c.89830C>G (p.Arg29944Gly)
c.89827C>G (p.Arg29943Gly)
c.86869C>G (p.Arg28957Gly)
c.68485C>G (p.Arg22829Gly)
c.89980C>G (p.Arg29994Gly)
c.89977C>G (p.Arg29993Gly)
c.89410C>G (p.Arg29804Gly)
c.86752C>G (p.Arg28918Gly)
c.86671C>G (p.Arg28891Gly)
c.68434C>G (p.Arg22812Gly)
c.58288C>G (p.Arg19430Gly)
2g.178545571G=CA1310522290TTN,TTN-AS1c.87835C= (p.Arg29279=)
c.68920C= (p.Arg22974=)
c.68719C= (p.Arg22907=)
c.68344C= (p.Arg22782=)
c.95539C= (p.Arg31847=)
c.90616C= (p.Arg30206=)
n.446+21935G=
n.2043+3210G=
c.94636C= (p.Arg31546=)
c.68530C= (p.Arg22844=)
c.68389C= (p.Arg22797=)
c.94432C= (p.Arg31478=)
c.89830C= (p.Arg29944=)
c.89827C= (p.Arg29943=)
c.86869C= (p.Arg28957=)
c.68485C= (p.Arg22829=)
c.89980C= (p.Arg29994=)
c.89977C= (p.Arg29993=)
c.89410C= (p.Arg29804=)
c.86752C= (p.Arg28918=)
c.86671C= (p.Arg28891=)
c.68434C= (p.Arg22812=)
c.58288C= (p.Arg19430=)
2g.178545571G>TCA349460517TTN,TTN-AS1c.87835C>A (p.Arg29279Ser)
c.68920C>A (p.Arg22974Ser)
c.68719C>A (p.Arg22907Ser)
c.68344C>A (p.Arg22782Ser)
c.95539C>A (p.Arg31847Ser)
c.90616C>A (p.Arg30206Ser)
n.446+21935G>T
n.2043+3210G>T
c.94636C>A (p.Arg31546Ser)
c.68530C>A (p.Arg22844Ser)
c.68389C>A (p.Arg22797Ser)
c.94432C>A (p.Arg31478Ser)
c.89830C>A (p.Arg29944Ser)
c.89827C>A (p.Arg29943Ser)
c.86869C>A (p.Arg28957Ser)
c.68485C>A (p.Arg22829Ser)
c.89980C>A (p.Arg29994Ser)
c.89977C>A (p.Arg29993Ser)
c.89410C>A (p.Arg29804Ser)
c.86752C>A (p.Arg28918Ser)
c.86671C>A (p.Arg28891Ser)
c.68434C>A (p.Arg22812Ser)
c.58288C>A (p.Arg19430Ser)
2g.178545572T>ACA349460519TTN,TTN-AS1c.87834A>T (p.Lys29278Asn)
c.68919A>T (p.Lys22973Asn)
c.68718A>T (p.Lys22906Asn)
c.68343A>T (p.Lys22781Asn)
c.95538A>T (p.Lys31846Asn)
c.90615A>T (p.Lys30205Asn)
n.446+21936T>A
n.2043+3211T>A
c.94635A>T (p.Lys31545Asn)
c.68529A>T (p.Lys22843Asn)
c.68388A>T (p.Lys22796Asn)
c.94431A>T (p.Lys31477Asn)
c.89829A>T (p.Lys29943Asn)
c.89826A>T (p.Lys29942Asn)
c.86868A>T (p.Lys28956Asn)
c.68484A>T (p.Lys22828Asn)
c.89979A>T (p.Lys29993Asn)
c.89976A>T (p.Lys29992Asn)
c.89409A>T (p.Lys29803Asn)
c.86751A>T (p.Lys28917Asn)
c.86670A>T (p.Lys28890Asn)
c.68433A>T (p.Lys22811Asn)
c.58287A>T (p.Lys19429Asn)
2g.178545572T>CCA430241696TTN,TTN-AS1c.87834A>G (p.Lys29278=)
c.68919A>G (p.Lys22973=)
c.68718A>G (p.Lys22906=)
c.68343A>G (p.Lys22781=)
c.95538A>G (p.Lys31846=)
c.90615A>G (p.Lys30205=)
n.446+21936T>C
n.2043+3211T>C
c.94635A>G (p.Lys31545=)
c.68529A>G (p.Lys22843=)
c.68388A>G (p.Lys22796=)
c.94431A>G (p.Lys31477=)
c.89829A>G (p.Lys29943=)
c.89826A>G (p.Lys29942=)
c.86868A>G (p.Lys28956=)
c.68484A>G (p.Lys22828=)
c.89979A>G (p.Lys29993=)
c.89976A>G (p.Lys29992=)
c.89409A>G (p.Lys29803=)
c.86751A>G (p.Lys28917=)
c.86670A>G (p.Lys28890=)
c.68433A>G (p.Lys22811=)
c.58287A>G (p.Lys19429=)
2g.178545572T>GCA349460520TTN,TTN-AS1c.87834A>C (p.Lys29278Asn)
c.68919A>C (p.Lys22973Asn)
c.68718A>C (p.Lys22906Asn)
c.68343A>C (p.Lys22781Asn)
c.95538A>C (p.Lys31846Asn)
c.90615A>C (p.Lys30205Asn)
n.446+21936T>G
n.2043+3211T>G
c.94635A>C (p.Lys31545Asn)
c.68529A>C (p.Lys22843Asn)
c.68388A>C (p.Lys22796Asn)
c.94431A>C (p.Lys31477Asn)
c.89829A>C (p.Lys29943Asn)
c.89826A>C (p.Lys29942Asn)
c.86868A>C (p.Lys28956Asn)
c.68484A>C (p.Lys22828Asn)
c.89979A>C (p.Lys29993Asn)
c.89976A>C (p.Lys29992Asn)
c.89409A>C (p.Lys29803Asn)
c.86751A>C (p.Lys28917Asn)
c.86670A>C (p.Lys28890Asn)
c.68433A>C (p.Lys22811Asn)
c.58287A>C (p.Lys19429Asn)
2g.178545573T>ACA349460523TTN,TTN-AS1c.87833A>T (p.Lys29278Ile)
c.68918A>T (p.Lys22973Ile)
c.68717A>T (p.Lys22906Ile)
c.68342A>T (p.Lys22781Ile)
c.95537A>T (p.Lys31846Ile)
c.90614A>T (p.Lys30205Ile)
n.446+21937T>A
n.2043+3212T>A
c.94634A>T (p.Lys31545Ile)
c.68528A>T (p.Lys22843Ile)
c.68387A>T (p.Lys22796Ile)
c.94430A>T (p.Lys31477Ile)
c.89828A>T (p.Lys29943Ile)
c.89825A>T (p.Lys29942Ile)
c.86867A>T (p.Lys28956Ile)
c.68483A>T (p.Lys22828Ile)
c.89978A>T (p.Lys29993Ile)
c.89975A>T (p.Lys29992Ile)
c.89408A>T (p.Lys29803Ile)
c.86750A>T (p.Lys28917Ile)
c.86669A>T (p.Lys28890Ile)
c.68432A>T (p.Lys22811Ile)
c.58286A>T (p.Lys19429Ile)
2g.178545573T>CCA1986939TTN,TTN-AS1c.87833A>G (p.Lys29278Arg)
c.68918A>G (p.Lys22973Arg)
c.68717A>G (p.Lys22906Arg)
c.68342A>G (p.Lys22781Arg)
c.95537A>G (p.Lys31846Arg)
c.90614A>G (p.Lys30205Arg)
n.446+21937T>C
n.2043+3212T>C
c.94634A>G (p.Lys31545Arg)
c.68528A>G (p.Lys22843Arg)
c.68387A>G (p.Lys22796Arg)
c.94430A>G (p.Lys31477Arg)
c.89828A>G (p.Lys29943Arg)
c.89825A>G (p.Lys29942Arg)
c.86867A>G (p.Lys28956Arg)
c.68483A>G (p.Lys22828Arg)
c.89978A>G (p.Lys29993Arg)
c.89975A>G (p.Lys29992Arg)
c.89408A>G (p.Lys29803Arg)
c.86750A>G (p.Lys28917Arg)
c.86669A>G (p.Lys28890Arg)
c.68432A>G (p.Lys22811Arg)
c.58286A>G (p.Lys19429Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178545573T>GCA349460524TTN,TTN-AS1c.87833A>C (p.Lys29278Thr)
c.68918A>C (p.Lys22973Thr)
c.68717A>C (p.Lys22906Thr)
c.68342A>C (p.Lys22781Thr)
c.95537A>C (p.Lys31846Thr)
c.90614A>C (p.Lys30205Thr)
n.446+21937T>G
n.2043+3212T>G
c.94634A>C (p.Lys31545Thr)
c.68528A>C (p.Lys22843Thr)
c.68387A>C (p.Lys22796Thr)
c.94430A>C (p.Lys31477Thr)
c.89828A>C (p.Lys29943Thr)
c.89825A>C (p.Lys29942Thr)
c.86867A>C (p.Lys28956Thr)
c.68483A>C (p.Lys22828Thr)
c.89978A>C (p.Lys29993Thr)
c.89975A>C (p.Lys29992Thr)
c.89408A>C (p.Lys29803Thr)
c.86750A>C (p.Lys28917Thr)
c.86669A>C (p.Lys28890Thr)
c.68432A>C (p.Lys22811Thr)
c.58286A>C (p.Lys19429Thr)
2g.178545573T=CA1310522292TTN,TTN-AS1c.87833A= (p.Lys29278=)
c.68918A= (p.Lys22973=)
c.68717A= (p.Lys22906=)
c.68342A= (p.Lys22781=)
c.95537A= (p.Lys31846=)
c.90614A= (p.Lys30205=)
n.446+21937T=
n.2043+3212T=
c.94634A= (p.Lys31545=)
c.68528A= (p.Lys22843=)
c.68387A= (p.Lys22796=)
c.94430A= (p.Lys31477=)
c.89828A= (p.Lys29943=)
c.89825A= (p.Lys29942=)
c.86867A= (p.Lys28956=)
c.68483A= (p.Lys22828=)
c.89978A= (p.Lys29993=)
c.89975A= (p.Lys29992=)
c.89408A= (p.Lys29803=)
c.86750A= (p.Lys28917=)
c.86669A= (p.Lys28890=)
c.68432A= (p.Lys22811=)
c.58286A= (p.Lys19429=)
2g.178545574T>ACA349460526TTN,TTN-AS1c.87832A>T (p.Lys29278Ter)
c.68917A>T (p.Lys22973Ter)
c.68716A>T (p.Lys22906Ter)
c.68341A>T (p.Lys22781Ter)
c.95536A>T (p.Lys31846Ter)
c.90613A>T (p.Lys30205Ter)
n.446+21938T>A
n.2043+3213T>A
c.94633A>T (p.Lys31545Ter)
c.68527A>T (p.Lys22843Ter)
c.68386A>T (p.Lys22796Ter)
c.94429A>T (p.Lys31477Ter)
c.89827A>T (p.Lys29943Ter)
c.89824A>T (p.Lys29942Ter)
c.86866A>T (p.Lys28956Ter)
c.68482A>T (p.Lys22828Ter)
c.89977A>T (p.Lys29993Ter)
c.89974A>T (p.Lys29992Ter)
c.89407A>T (p.Lys29803Ter)
c.86749A>T (p.Lys28917Ter)
c.86668A>T (p.Lys28890Ter)
c.68431A>T (p.Lys22811Ter)
c.58285A>T (p.Lys19429Ter)
2g.178545574T>CCA349460527TTN,TTN-AS1c.87832A>G (p.Lys29278Glu)
c.68917A>G (p.Lys22973Glu)
c.68716A>G (p.Lys22906Glu)
c.68341A>G (p.Lys22781Glu)
c.95536A>G (p.Lys31846Glu)
c.90613A>G (p.Lys30205Glu)
n.446+21938T>C
n.2043+3213T>C
c.94633A>G (p.Lys31545Glu)
c.68527A>G (p.Lys22843Glu)
c.68386A>G (p.Lys22796Glu)
c.94429A>G (p.Lys31477Glu)
c.89827A>G (p.Lys29943Glu)
c.89824A>G (p.Lys29942Glu)
c.86866A>G (p.Lys28956Glu)
c.68482A>G (p.Lys22828Glu)
c.89977A>G (p.Lys29993Glu)
c.89974A>G (p.Lys29992Glu)
c.89407A>G (p.Lys29803Glu)
c.86749A>G (p.Lys28917Glu)
c.86668A>G (p.Lys28890Glu)
c.68431A>G (p.Lys22811Glu)
c.58285A>G (p.Lys19429Glu)
2g.178545574T>GCA349460528TTN,TTN-AS1c.87832A>C (p.Lys29278Gln)
c.68917A>C (p.Lys22973Gln)
c.68716A>C (p.Lys22906Gln)
c.68341A>C (p.Lys22781Gln)
c.95536A>C (p.Lys31846Gln)
c.90613A>C (p.Lys30205Gln)
n.446+21938T>G
n.2043+3213T>G
c.94633A>C (p.Lys31545Gln)
c.68527A>C (p.Lys22843Gln)
c.68386A>C (p.Lys22796Gln)
c.94429A>C (p.Lys31477Gln)
c.89827A>C (p.Lys29943Gln)
c.89824A>C (p.Lys29942Gln)
c.86866A>C (p.Lys28956Gln)
c.68482A>C (p.Lys22828Gln)
c.89977A>C (p.Lys29993Gln)
c.89974A>C (p.Lys29992Gln)
c.89407A>C (p.Lys29803Gln)
c.86749A>C (p.Lys28917Gln)
c.86668A>C (p.Lys28890Gln)
c.68431A>C (p.Lys22811Gln)
c.58285A>C (p.Lys19429Gln)
2g.178545575G>ACA430241702TTN,TTN-AS1c.87831C>T (p.Asp29277=)
c.68916C>T (p.Asp22972=)
c.68715C>T (p.Asp22905=)
c.68340C>T (p.Asp22780=)
c.95535C>T (p.Asp31845=)
c.90612C>T (p.Asp30204=)
n.446+21939G>A
n.2043+3214G>A
c.94632C>T (p.Asp31544=)
c.68526C>T (p.Asp22842=)
c.68385C>T (p.Asp22795=)
c.94428C>T (p.Asp31476=)
c.89826C>T (p.Asp29942=)
c.89823C>T (p.Asp29941=)
c.86865C>T (p.Asp28955=)
c.68481C>T (p.Asp22827=)
c.89976C>T (p.Asp29992=)
c.89973C>T (p.Asp29991=)
c.89406C>T (p.Asp29802=)
c.86748C>T (p.Asp28916=)
c.86667C>T (p.Asp28889=)
c.68430C>T (p.Asp22810=)
c.58284C>T (p.Asp19428=)
2g.178545575G>CCA349460529TTN,TTN-AS1c.87831C>G (p.Asp29277Glu)
c.68916C>G (p.Asp22972Glu)
c.68715C>G (p.Asp22905Glu)
c.68340C>G (p.Asp22780Glu)
c.95535C>G (p.Asp31845Glu)
c.90612C>G (p.Asp30204Glu)
n.446+21939G>C
n.2043+3214G>C
c.94632C>G (p.Asp31544Glu)
c.68526C>G (p.Asp22842Glu)
c.68385C>G (p.Asp22795Glu)
c.94428C>G (p.Asp31476Glu)
c.89826C>G (p.Asp29942Glu)
c.89823C>G (p.Asp29941Glu)
c.86865C>G (p.Asp28955Glu)
c.68481C>G (p.Asp22827Glu)
c.89976C>G (p.Asp29992Glu)
c.89973C>G (p.Asp29991Glu)
c.89406C>G (p.Asp29802Glu)
c.86748C>G (p.Asp28916Glu)
c.86667C>G (p.Asp28889Glu)
c.68430C>G (p.Asp22810Glu)
c.58284C>G (p.Asp19428Glu)

Number of alleles fetched