Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.178540065C=CA1310516608TTN,TTN-AS1c.90394+3G= (n.90394+3G=)
c.71479+3G= (n.71479+3G=)
c.71278+3G= (n.71278+3G=)
c.70903+3G= (n.70903+3G=)
c.98098+3G= (n.98098+3G=)
c.93175+3G= (n.93175+3G=)
n.446+16429C=
n.1841-42C=
c.97195+3G= (n.97195+3G=)
c.71089+3G= (n.71089+3G=)
c.70948+3G= (n.70948+3G=)
c.96991+3G= (n.96991+3G=)
c.92389+3G= (n.92389+3G=)
c.92386+3G= (n.92386+3G=)
c.89428+3G= (n.89428+3G=)
c.71044+3G= (n.71044+3G=)
c.92539+3G= (n.92539+3G=)
c.92536+3G= (n.92536+3G=)
c.91969+3G= (n.91969+3G=)
c.89311+3G= (n.89311+3G=)
c.89230+3G= (n.89230+3G=)
c.70993+3G= (n.70993+3G=)
c.60847+3G= (n.60847+3G=)
2g.178540065C>TCA1986444TTN,TTN-AS1c.90394+3G>A (n.90394+3G>A)
c.71479+3G>A (n.71479+3G>A)
c.71278+3G>A (n.71278+3G>A)
c.70903+3G>A (n.70903+3G>A)
c.98098+3G>A (n.98098+3G>A)
c.93175+3G>A (n.93175+3G>A)
n.446+16429C>T
n.1841-42C>T
c.97195+3G>A (n.97195+3G>A)
c.71089+3G>A (n.71089+3G>A)
c.70948+3G>A (n.70948+3G>A)
c.96991+3G>A (n.96991+3G>A)
c.92389+3G>A (n.92389+3G>A)
c.92386+3G>A (n.92386+3G>A)
c.89428+3G>A (n.89428+3G>A)
c.71044+3G>A (n.71044+3G>A)
c.92539+3G>A (n.92539+3G>A)
c.92536+3G>A (n.92536+3G>A)
c.91969+3G>A (n.91969+3G>A)
c.89311+3G>A (n.89311+3G>A)
c.89230+3G>A (n.89230+3G>A)
c.70993+3G>A (n.70993+3G>A)
c.60847+3G>A (n.60847+3G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178540066A>CCA349434862TTN,TTN-AS1c.90394+2T>G (n.90394+2T>G)
c.71479+2T>G (n.71479+2T>G)
c.71278+2T>G (n.71278+2T>G)
c.70903+2T>G (n.70903+2T>G)
c.98098+2T>G (n.98098+2T>G)
c.93175+2T>G (n.93175+2T>G)
n.446+16430A>C
n.1841-41A>C
c.97195+2T>G (n.97195+2T>G)
c.71089+2T>G (n.71089+2T>G)
c.70948+2T>G (n.70948+2T>G)
c.96991+2T>G (n.96991+2T>G)
c.92389+2T>G (n.92389+2T>G)
c.92386+2T>G (n.92386+2T>G)
c.89428+2T>G (n.89428+2T>G)
c.71044+2T>G (n.71044+2T>G)
c.92539+2T>G (n.92539+2T>G)
c.92536+2T>G (n.92536+2T>G)
c.91969+2T>G (n.91969+2T>G)
c.89311+2T>G (n.89311+2T>G)
c.89230+2T>G (n.89230+2T>G)
c.70993+2T>G (n.70993+2T>G)
c.60847+2T>G (n.60847+2T>G)
2g.178540066A>GCA349434861TTN,TTN-AS1c.90394+2T>C (n.90394+2T>C)
c.71479+2T>C (n.71479+2T>C)
c.71278+2T>C (n.71278+2T>C)
c.70903+2T>C (n.70903+2T>C)
c.98098+2T>C (n.98098+2T>C)
c.93175+2T>C (n.93175+2T>C)
n.446+16430A>G
n.1841-41A>G
c.97195+2T>C (n.97195+2T>C)
c.71089+2T>C (n.71089+2T>C)
c.70948+2T>C (n.70948+2T>C)
c.96991+2T>C (n.96991+2T>C)
c.92389+2T>C (n.92389+2T>C)
c.92386+2T>C (n.92386+2T>C)
c.89428+2T>C (n.89428+2T>C)
c.71044+2T>C (n.71044+2T>C)
c.92539+2T>C (n.92539+2T>C)
c.92536+2T>C (n.92536+2T>C)
c.91969+2T>C (n.91969+2T>C)
c.89311+2T>C (n.89311+2T>C)
c.89230+2T>C (n.89230+2T>C)
c.70993+2T>C (n.70993+2T>C)
c.60847+2T>C (n.60847+2T>C)
2g.178540066A>TCA349434860TTN,TTN-AS1c.90394+2T>A (n.90394+2T>A)
c.71479+2T>A (n.71479+2T>A)
c.71278+2T>A (n.71278+2T>A)
c.70903+2T>A (n.70903+2T>A)
c.98098+2T>A (n.98098+2T>A)
c.93175+2T>A (n.93175+2T>A)
n.446+16430A>T
n.1841-41A>T
c.97195+2T>A (n.97195+2T>A)
c.71089+2T>A (n.71089+2T>A)
c.70948+2T>A (n.70948+2T>A)
c.96991+2T>A (n.96991+2T>A)
c.92389+2T>A (n.92389+2T>A)
c.92386+2T>A (n.92386+2T>A)
c.89428+2T>A (n.89428+2T>A)
c.71044+2T>A (n.71044+2T>A)
c.92539+2T>A (n.92539+2T>A)
c.92536+2T>A (n.92536+2T>A)
c.91969+2T>A (n.91969+2T>A)
c.89311+2T>A (n.89311+2T>A)
c.89230+2T>A (n.89230+2T>A)
c.70993+2T>A (n.70993+2T>A)
c.60847+2T>A (n.60847+2T>A)
2g.178540067C>ACA349434865TTN,TTN-AS1c.90394+1G>T (n.90394+1G>T)
c.71479+1G>T (n.71479+1G>T)
c.71278+1G>T (n.71278+1G>T)
c.70903+1G>T (n.70903+1G>T)
c.98098+1G>T (n.98098+1G>T)
c.93175+1G>T (n.93175+1G>T)
n.446+16431C>A
n.1841-40C>A
c.97195+1G>T (n.97195+1G>T)
c.71089+1G>T (n.71089+1G>T)
c.70948+1G>T (n.70948+1G>T)
c.96991+1G>T (n.96991+1G>T)
c.92389+1G>T (n.92389+1G>T)
c.92386+1G>T (n.92386+1G>T)
c.89428+1G>T (n.89428+1G>T)
c.71044+1G>T (n.71044+1G>T)
c.92539+1G>T (n.92539+1G>T)
c.92536+1G>T (n.92536+1G>T)
c.91969+1G>T (n.91969+1G>T)
c.89311+1G>T (n.89311+1G>T)
c.89230+1G>T (n.89230+1G>T)
c.70993+1G>T (n.70993+1G>T)
c.60847+1G>T (n.60847+1G>T)
 ClinVar
2g.178540067C>GCA349434866TTN,TTN-AS1c.90394+1G>C (n.90394+1G>C)
c.71479+1G>C (n.71479+1G>C)
c.71278+1G>C (n.71278+1G>C)
c.70903+1G>C (n.70903+1G>C)
c.98098+1G>C (n.98098+1G>C)
c.93175+1G>C (n.93175+1G>C)
n.446+16431C>G
n.1841-40C>G
c.97195+1G>C (n.97195+1G>C)
c.71089+1G>C (n.71089+1G>C)
c.70948+1G>C (n.70948+1G>C)
c.96991+1G>C (n.96991+1G>C)
c.92389+1G>C (n.92389+1G>C)
c.92386+1G>C (n.92386+1G>C)
c.89428+1G>C (n.89428+1G>C)
c.71044+1G>C (n.71044+1G>C)
c.92539+1G>C (n.92539+1G>C)
c.92536+1G>C (n.92536+1G>C)
c.91969+1G>C (n.91969+1G>C)
c.89311+1G>C (n.89311+1G>C)
c.89230+1G>C (n.89230+1G>C)
c.70993+1G>C (n.70993+1G>C)
c.60847+1G>C (n.60847+1G>C)
2g.178540067C>TCA349434867TTN,TTN-AS1c.90394+1G>A (n.90394+1G>A)
c.71479+1G>A (n.71479+1G>A)
c.71278+1G>A (n.71278+1G>A)
c.70903+1G>A (n.70903+1G>A)
c.98098+1G>A (n.98098+1G>A)
c.93175+1G>A (n.93175+1G>A)
n.446+16431C>T
n.1841-40C>T
c.97195+1G>A (n.97195+1G>A)
c.71089+1G>A (n.71089+1G>A)
c.70948+1G>A (n.70948+1G>A)
c.96991+1G>A (n.96991+1G>A)
c.92389+1G>A (n.92389+1G>A)
c.92386+1G>A (n.92386+1G>A)
c.89428+1G>A (n.89428+1G>A)
c.71044+1G>A (n.71044+1G>A)
c.92539+1G>A (n.92539+1G>A)
c.92536+1G>A (n.92536+1G>A)
c.91969+1G>A (n.91969+1G>A)
c.89311+1G>A (n.89311+1G>A)
c.89230+1G>A (n.89230+1G>A)
c.70993+1G>A (n.70993+1G>A)
c.60847+1G>A (n.60847+1G>A)
2g.178540068C>ACA349434869TTN,TTN-AS1c.90394G>T (p.Glu30132Ter)
c.71479G>T (p.Glu23827Ter)
c.71278G>T (p.Glu23760Ter)
c.70903G>T (p.Glu23635Ter)
c.98098G>T (p.Glu32700Ter)
c.93175G>T (p.Glu31059Ter)
n.446+16432C>A
n.1841-39C>A
c.97195G>T (p.Glu32399Ter)
c.71089G>T (p.Glu23697Ter)
c.70948G>T (p.Glu23650Ter)
c.96991G>T (p.Glu32331Ter)
c.92389G>T (p.Glu30797Ter)
c.92386G>T (p.Glu30796Ter)
c.89428G>T (p.Glu29810Ter)
c.71044G>T (p.Glu23682Ter)
c.92539G>T (p.Glu30847Ter)
c.92536G>T (p.Glu30846Ter)
c.91969G>T (p.Glu30657Ter)
c.89311G>T (p.Glu29771Ter)
c.89230G>T (p.Glu29744Ter)
c.70993G>T (p.Glu23665Ter)
c.60847G>T (p.Glu20283Ter)
 gnomAD v4
2g.178540068C>GCA349434871TTN,TTN-AS1c.90394G>C (p.Glu30132Gln)
c.71479G>C (p.Glu23827Gln)
c.71278G>C (p.Glu23760Gln)
c.70903G>C (p.Glu23635Gln)
c.98098G>C (p.Glu32700Gln)
c.93175G>C (p.Glu31059Gln)
n.446+16432C>G
n.1841-39C>G
c.97195G>C (p.Glu32399Gln)
c.71089G>C (p.Glu23697Gln)
c.70948G>C (p.Glu23650Gln)
c.96991G>C (p.Glu32331Gln)
c.92389G>C (p.Glu30797Gln)
c.92386G>C (p.Glu30796Gln)
c.89428G>C (p.Glu29810Gln)
c.71044G>C (p.Glu23682Gln)
c.92539G>C (p.Glu30847Gln)
c.92536G>C (p.Glu30846Gln)
c.91969G>C (p.Glu30657Gln)
c.89311G>C (p.Glu29771Gln)
c.89230G>C (p.Glu29744Gln)
c.70993G>C (p.Glu23665Gln)
c.60847G>C (p.Glu20283Gln)
2g.178540068C>TCA349434873TTN,TTN-AS1c.90394G>A (p.Glu30132Lys)
c.71479G>A (p.Glu23827Lys)
c.71278G>A (p.Glu23760Lys)
c.70903G>A (p.Glu23635Lys)
c.98098G>A (p.Glu32700Lys)
c.93175G>A (p.Glu31059Lys)
n.446+16432C>T
n.1841-39C>T
c.97195G>A (p.Glu32399Lys)
c.71089G>A (p.Glu23697Lys)
c.70948G>A (p.Glu23650Lys)
c.96991G>A (p.Glu32331Lys)
c.92389G>A (p.Glu30797Lys)
c.92386G>A (p.Glu30796Lys)
c.89428G>A (p.Glu29810Lys)
c.71044G>A (p.Glu23682Lys)
c.92539G>A (p.Glu30847Lys)
c.92536G>A (p.Glu30846Lys)
c.91969G>A (p.Glu30657Lys)
c.89311G>A (p.Glu29771Lys)
c.89230G>A (p.Glu29744Lys)
c.70993G>A (p.Glu23665Lys)
c.60847G>A (p.Glu20283Lys)
2g.178540069A>CCA430240565TTN,TTN-AS1c.90393T>G (p.Leu30131=)
c.71478T>G (p.Leu23826=)
c.71277T>G (p.Leu23759=)
c.70902T>G (p.Leu23634=)
c.98097T>G (p.Leu32699=)
c.93174T>G (p.Leu31058=)
n.446+16433A>C
n.1841-38A>C
c.97194T>G (p.Leu32398=)
c.71088T>G (p.Leu23696=)
c.70947T>G (p.Leu23649=)
c.96990T>G (p.Leu32330=)
c.92388T>G (p.Leu30796=)
c.92385T>G (p.Leu30795=)
c.89427T>G (p.Leu29809=)
c.71043T>G (p.Leu23681=)
c.92538T>G (p.Leu30846=)
c.92535T>G (p.Leu30845=)
c.91968T>G (p.Leu30656=)
c.89310T>G (p.Leu29770=)
c.89229T>G (p.Leu29743=)
c.70992T>G (p.Leu23664=)
c.60846T>G (p.Leu20282=)
2g.178540069A>GCA430240567TTN,TTN-AS1c.90393T>C (p.Leu30131=)
c.71478T>C (p.Leu23826=)
c.71277T>C (p.Leu23759=)
c.70902T>C (p.Leu23634=)
c.98097T>C (p.Leu32699=)
c.93174T>C (p.Leu31058=)
n.446+16433A>G
n.1841-38A>G
c.97194T>C (p.Leu32398=)
c.71088T>C (p.Leu23696=)
c.70947T>C (p.Leu23649=)
c.96990T>C (p.Leu32330=)
c.92388T>C (p.Leu30796=)
c.92385T>C (p.Leu30795=)
c.89427T>C (p.Leu29809=)
c.71043T>C (p.Leu23681=)
c.92538T>C (p.Leu30846=)
c.92535T>C (p.Leu30845=)
c.91968T>C (p.Leu30656=)
c.89310T>C (p.Leu29770=)
c.89229T>C (p.Leu29743=)
c.70992T>C (p.Leu23664=)
c.60846T>C (p.Leu20282=)
 gnomAD v4
2g.178540069A>TCA430240569TTN,TTN-AS1c.90393T>A (p.Leu30131=)
c.71478T>A (p.Leu23826=)
c.71277T>A (p.Leu23759=)
c.70902T>A (p.Leu23634=)
c.98097T>A (p.Leu32699=)
c.93174T>A (p.Leu31058=)
n.446+16433A>T
n.1841-38A>T
c.97194T>A (p.Leu32398=)
c.71088T>A (p.Leu23696=)
c.70947T>A (p.Leu23649=)
c.96990T>A (p.Leu32330=)
c.92388T>A (p.Leu30796=)
c.92385T>A (p.Leu30795=)
c.89427T>A (p.Leu29809=)
c.71043T>A (p.Leu23681=)
c.92538T>A (p.Leu30846=)
c.92535T>A (p.Leu30845=)
c.91968T>A (p.Leu30656=)
c.89310T>A (p.Leu29770=)
c.89229T>A (p.Leu29743=)
c.70992T>A (p.Leu23664=)
c.60846T>A (p.Leu20282=)
2g.178540070A>CCA349434874TTN,TTN-AS1c.90392T>G (p.Leu30131Arg)
c.71477T>G (p.Leu23826Arg)
c.71276T>G (p.Leu23759Arg)
c.70901T>G (p.Leu23634Arg)
c.98096T>G (p.Leu32699Arg)
c.93173T>G (p.Leu31058Arg)
n.446+16434A>C
n.1841-37A>C
c.97193T>G (p.Leu32398Arg)
c.71087T>G (p.Leu23696Arg)
c.70946T>G (p.Leu23649Arg)
c.96989T>G (p.Leu32330Arg)
c.92387T>G (p.Leu30796Arg)
c.92384T>G (p.Leu30795Arg)
c.89426T>G (p.Leu29809Arg)
c.71042T>G (p.Leu23681Arg)
c.92537T>G (p.Leu30846Arg)
c.92534T>G (p.Leu30845Arg)
c.91967T>G (p.Leu30656Arg)
c.89309T>G (p.Leu29770Arg)
c.89228T>G (p.Leu29743Arg)
c.70991T>G (p.Leu23664Arg)
c.60845T>G (p.Leu20282Arg)
2g.178540070A>GCA349434876TTN,TTN-AS1c.90392T>C (p.Leu30131Pro)
c.71477T>C (p.Leu23826Pro)
c.71276T>C (p.Leu23759Pro)
c.70901T>C (p.Leu23634Pro)
c.98096T>C (p.Leu32699Pro)
c.93173T>C (p.Leu31058Pro)
n.446+16434A>G
n.1841-37A>G
c.97193T>C (p.Leu32398Pro)
c.71087T>C (p.Leu23696Pro)
c.70946T>C (p.Leu23649Pro)
c.96989T>C (p.Leu32330Pro)
c.92387T>C (p.Leu30796Pro)
c.92384T>C (p.Leu30795Pro)
c.89426T>C (p.Leu29809Pro)
c.71042T>C (p.Leu23681Pro)
c.92537T>C (p.Leu30846Pro)
c.92534T>C (p.Leu30845Pro)
c.91967T>C (p.Leu30656Pro)
c.89309T>C (p.Leu29770Pro)
c.89228T>C (p.Leu29743Pro)
c.70991T>C (p.Leu23664Pro)
c.60845T>C (p.Leu20282Pro)
2g.178540070A>TCA349434877TTN,TTN-AS1c.90392T>A (p.Leu30131His)
c.71477T>A (p.Leu23826His)
c.71276T>A (p.Leu23759His)
c.70901T>A (p.Leu23634His)
c.98096T>A (p.Leu32699His)
c.93173T>A (p.Leu31058His)
n.446+16434A>T
n.1841-37A>T
c.97193T>A (p.Leu32398His)
c.71087T>A (p.Leu23696His)
c.70946T>A (p.Leu23649His)
c.96989T>A (p.Leu32330His)
c.92387T>A (p.Leu30796His)
c.92384T>A (p.Leu30795His)
c.89426T>A (p.Leu29809His)
c.71042T>A (p.Leu23681His)
c.92537T>A (p.Leu30846His)
c.92534T>A (p.Leu30845His)
c.91967T>A (p.Leu30656His)
c.89309T>A (p.Leu29770His)
c.89228T>A (p.Leu29743His)
c.70991T>A (p.Leu23664His)
c.60845T>A (p.Leu20282His)
2g.178540071G>ACA141461TTN,TTN-AS1c.90391C>T (p.Leu30131Phe)
c.71476C>T (p.Leu23826Phe)
c.71275C>T (p.Leu23759Phe)
c.70900C>T (p.Leu23634Phe)
c.98095C>T (p.Leu32699Phe)
c.93172C>T (p.Leu31058Phe)
n.446+16435G>A
n.1841-36G>A
c.97192C>T (p.Leu32398Phe)
c.71086C>T (p.Leu23696Phe)
c.70945C>T (p.Leu23649Phe)
c.96988C>T (p.Leu32330Phe)
c.92386C>T (p.Leu30796Phe)
c.92383C>T (p.Leu30795Phe)
c.89425C>T (p.Leu29809Phe)
c.71041C>T (p.Leu23681Phe)
c.92536C>T (p.Leu30846Phe)
c.92533C>T (p.Leu30845Phe)
c.91966C>T (p.Leu30656Phe)
c.89308C>T (p.Leu29770Phe)
c.89227C>T (p.Leu29743Phe)
c.70990C>T (p.Leu23664Phe)
c.60844C>T (p.Leu20282Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178540071G>CCA349434879TTN,TTN-AS1c.90391C>G (p.Leu30131Val)
c.71476C>G (p.Leu23826Val)
c.71275C>G (p.Leu23759Val)
c.70900C>G (p.Leu23634Val)
c.98095C>G (p.Leu32699Val)
c.93172C>G (p.Leu31058Val)
n.446+16435G>C
n.1841-36G>C
c.97192C>G (p.Leu32398Val)
c.71086C>G (p.Leu23696Val)
c.70945C>G (p.Leu23649Val)
c.96988C>G (p.Leu32330Val)
c.92386C>G (p.Leu30796Val)
c.92383C>G (p.Leu30795Val)
c.89425C>G (p.Leu29809Val)
c.71041C>G (p.Leu23681Val)
c.92536C>G (p.Leu30846Val)
c.92533C>G (p.Leu30845Val)
c.91966C>G (p.Leu30656Val)
c.89308C>G (p.Leu29770Val)
c.89227C>G (p.Leu29743Val)
c.70990C>G (p.Leu23664Val)
c.60844C>G (p.Leu20282Val)
2g.178540071G=CA1310516609TTN,TTN-AS1c.90391C= (p.Leu30131=)
c.71476C= (p.Leu23826=)
c.71275C= (p.Leu23759=)
c.70900C= (p.Leu23634=)
c.98095C= (p.Leu32699=)
c.93172C= (p.Leu31058=)
n.446+16435G=
n.1841-36G=
c.97192C= (p.Leu32398=)
c.71086C= (p.Leu23696=)
c.70945C= (p.Leu23649=)
c.96988C= (p.Leu32330=)
c.92386C= (p.Leu30796=)
c.92383C= (p.Leu30795=)
c.89425C= (p.Leu29809=)
c.71041C= (p.Leu23681=)
c.92536C= (p.Leu30846=)
c.92533C= (p.Leu30845=)
c.91966C= (p.Leu30656=)
c.89308C= (p.Leu29770=)
c.89227C= (p.Leu29743=)
c.70990C= (p.Leu23664=)
c.60844C= (p.Leu20282=)
2g.178540071G>TCA349434880TTN,TTN-AS1c.90391C>A (p.Leu30131Ile)
c.71476C>A (p.Leu23826Ile)
c.71275C>A (p.Leu23759Ile)
c.70900C>A (p.Leu23634Ile)
c.98095C>A (p.Leu32699Ile)
c.93172C>A (p.Leu31058Ile)
n.446+16435G>T
n.1841-36G>T
c.97192C>A (p.Leu32398Ile)
c.71086C>A (p.Leu23696Ile)
c.70945C>A (p.Leu23649Ile)
c.96988C>A (p.Leu32330Ile)
c.92386C>A (p.Leu30796Ile)
c.92383C>A (p.Leu30795Ile)
c.89425C>A (p.Leu29809Ile)
c.71041C>A (p.Leu23681Ile)
c.92536C>A (p.Leu30846Ile)
c.92533C>A (p.Leu30845Ile)
c.91966C>A (p.Leu30656Ile)
c.89308C>A (p.Leu29770Ile)
c.89227C>A (p.Leu29743Ile)
c.70990C>A (p.Leu23664Ile)
c.60844C>A (p.Leu20282Ile)
 COSMIC COSMIC COSMIC COSMIC
2g.178540072C>ACA349434883TTN,TTN-AS1c.90390G>T (p.Met30130Ile)
c.71475G>T (p.Met23825Ile)
c.71274G>T (p.Met23758Ile)
c.70899G>T (p.Met23633Ile)
c.98094G>T (p.Met32698Ile)
c.93171G>T (p.Met31057Ile)
n.446+16436C>A
n.1841-35C>A
c.97191G>T (p.Met32397Ile)
c.71085G>T (p.Met23695Ile)
c.70944G>T (p.Met23648Ile)
c.96987G>T (p.Met32329Ile)
c.92385G>T (p.Met30795Ile)
c.92382G>T (p.Met30794Ile)
c.89424G>T (p.Met29808Ile)
c.71040G>T (p.Met23680Ile)
c.92535G>T (p.Met30845Ile)
c.92532G>T (p.Met30844Ile)
c.91965G>T (p.Met30655Ile)
c.89307G>T (p.Met29769Ile)
c.89226G>T (p.Met29742Ile)
c.70989G>T (p.Met23663Ile)
c.60843G>T (p.Met20281Ile)
 gnomAD v4
2g.178540072C>GCA349434884TTN,TTN-AS1c.90390G>C (p.Met30130Ile)
c.71475G>C (p.Met23825Ile)
c.71274G>C (p.Met23758Ile)
c.70899G>C (p.Met23633Ile)
c.98094G>C (p.Met32698Ile)
c.93171G>C (p.Met31057Ile)
n.446+16436C>G
n.1841-35C>G
c.97191G>C (p.Met32397Ile)
c.71085G>C (p.Met23695Ile)
c.70944G>C (p.Met23648Ile)
c.96987G>C (p.Met32329Ile)
c.92385G>C (p.Met30795Ile)
c.92382G>C (p.Met30794Ile)
c.89424G>C (p.Met29808Ile)
c.71040G>C (p.Met23680Ile)
c.92535G>C (p.Met30845Ile)
c.92532G>C (p.Met30844Ile)
c.91965G>C (p.Met30655Ile)
c.89307G>C (p.Met29769Ile)
c.89226G>C (p.Met29742Ile)
c.70989G>C (p.Met23663Ile)
c.60843G>C (p.Met20281Ile)
2g.178540072C>TCA349434886TTN,TTN-AS1c.90390G>A (p.Met30130Ile)
c.71475G>A (p.Met23825Ile)
c.71274G>A (p.Met23758Ile)
c.70899G>A (p.Met23633Ile)
c.98094G>A (p.Met32698Ile)
c.93171G>A (p.Met31057Ile)
n.446+16436C>T
n.1841-35C>T
c.97191G>A (p.Met32397Ile)
c.71085G>A (p.Met23695Ile)
c.70944G>A (p.Met23648Ile)
c.96987G>A (p.Met32329Ile)
c.92385G>A (p.Met30795Ile)
c.92382G>A (p.Met30794Ile)
c.89424G>A (p.Met29808Ile)
c.71040G>A (p.Met23680Ile)
c.92535G>A (p.Met30845Ile)
c.92532G>A (p.Met30844Ile)
c.91965G>A (p.Met30655Ile)
c.89307G>A (p.Met29769Ile)
c.89226G>A (p.Met29742Ile)
c.70989G>A (p.Met23663Ile)
c.60843G>A (p.Met20281Ile)
 gnomAD v4
2g.178540073A>CCA349434890TTN,TTN-AS1c.90389T>G (p.Met30130Arg)
c.71474T>G (p.Met23825Arg)
c.71273T>G (p.Met23758Arg)
c.70898T>G (p.Met23633Arg)
c.98093T>G (p.Met32698Arg)
c.93170T>G (p.Met31057Arg)
n.446+16437A>C
n.1841-34A>C
c.97190T>G (p.Met32397Arg)
c.71084T>G (p.Met23695Arg)
c.70943T>G (p.Met23648Arg)
c.96986T>G (p.Met32329Arg)
c.92384T>G (p.Met30795Arg)
c.92381T>G (p.Met30794Arg)
c.89423T>G (p.Met29808Arg)
c.71039T>G (p.Met23680Arg)
c.92534T>G (p.Met30845Arg)
c.92531T>G (p.Met30844Arg)
c.91964T>G (p.Met30655Arg)
c.89306T>G (p.Met29769Arg)
c.89225T>G (p.Met29742Arg)
c.70988T>G (p.Met23663Arg)
c.60842T>G (p.Met20281Arg)
2g.178540073A>GCA349434892TTN,TTN-AS1c.90389T>C (p.Met30130Thr)
c.71474T>C (p.Met23825Thr)
c.71273T>C (p.Met23758Thr)
c.70898T>C (p.Met23633Thr)
c.98093T>C (p.Met32698Thr)
c.93170T>C (p.Met31057Thr)
n.446+16437A>G
n.1841-34A>G
c.97190T>C (p.Met32397Thr)
c.71084T>C (p.Met23695Thr)
c.70943T>C (p.Met23648Thr)
c.96986T>C (p.Met32329Thr)
c.92384T>C (p.Met30795Thr)
c.92381T>C (p.Met30794Thr)
c.89423T>C (p.Met29808Thr)
c.71039T>C (p.Met23680Thr)
c.92534T>C (p.Met30845Thr)
c.92531T>C (p.Met30844Thr)
c.91964T>C (p.Met30655Thr)
c.89306T>C (p.Met29769Thr)
c.89225T>C (p.Met29742Thr)
c.70988T>C (p.Met23663Thr)
c.60842T>C (p.Met20281Thr)
2g.178540073A>TCA349434888TTN,TTN-AS1c.90389T>A (p.Met30130Lys)
c.71474T>A (p.Met23825Lys)
c.71273T>A (p.Met23758Lys)
c.70898T>A (p.Met23633Lys)
c.98093T>A (p.Met32698Lys)
c.93170T>A (p.Met31057Lys)
n.446+16437A>T
n.1841-34A>T
c.97190T>A (p.Met32397Lys)
c.71084T>A (p.Met23695Lys)
c.70943T>A (p.Met23648Lys)
c.96986T>A (p.Met32329Lys)
c.92384T>A (p.Met30795Lys)
c.92381T>A (p.Met30794Lys)
c.89423T>A (p.Met29808Lys)
c.71039T>A (p.Met23680Lys)
c.92534T>A (p.Met30845Lys)
c.92531T>A (p.Met30844Lys)
c.91964T>A (p.Met30655Lys)
c.89306T>A (p.Met29769Lys)
c.89225T>A (p.Met29742Lys)
c.70988T>A (p.Met23663Lys)
c.60842T>A (p.Met20281Lys)
2g.178540074T>ACA349434894TTN,TTN-AS1c.90388A>T (p.Met30130Leu)
c.71473A>T (p.Met23825Leu)
c.71272A>T (p.Met23758Leu)
c.70897A>T (p.Met23633Leu)
c.98092A>T (p.Met32698Leu)
c.93169A>T (p.Met31057Leu)
n.446+16438T>A
n.1841-33T>A
c.97189A>T (p.Met32397Leu)
c.71083A>T (p.Met23695Leu)
c.70942A>T (p.Met23648Leu)
c.96985A>T (p.Met32329Leu)
c.92383A>T (p.Met30795Leu)
c.92380A>T (p.Met30794Leu)
c.89422A>T (p.Met29808Leu)
c.71038A>T (p.Met23680Leu)
c.92533A>T (p.Met30845Leu)
c.92530A>T (p.Met30844Leu)
c.91963A>T (p.Met30655Leu)
c.89305A>T (p.Met29769Leu)
c.89224A>T (p.Met29742Leu)
c.70987A>T (p.Met23663Leu)
c.60841A>T (p.Met20281Leu)
 gnomAD v4
2g.178540074T>CCA349434895TTN,TTN-AS1c.90388A>G (p.Met30130Val)
c.71473A>G (p.Met23825Val)
c.71272A>G (p.Met23758Val)
c.70897A>G (p.Met23633Val)
c.98092A>G (p.Met32698Val)
c.93169A>G (p.Met31057Val)
n.446+16438T>C
n.1841-33T>C
c.97189A>G (p.Met32397Val)
c.71083A>G (p.Met23695Val)
c.70942A>G (p.Met23648Val)
c.96985A>G (p.Met32329Val)
c.92383A>G (p.Met30795Val)
c.92380A>G (p.Met30794Val)
c.89422A>G (p.Met29808Val)
c.71038A>G (p.Met23680Val)
c.92533A>G (p.Met30845Val)
c.92530A>G (p.Met30844Val)
c.91963A>G (p.Met30655Val)
c.89305A>G (p.Met29769Val)
c.89224A>G (p.Met29742Val)
c.70987A>G (p.Met23663Val)
c.60841A>G (p.Met20281Val)
 dbSNP gnomAD v3 gnomAD v4
2g.178540074T>GCA349434897TTN,TTN-AS1c.90388A>C (p.Met30130Leu)
c.71473A>C (p.Met23825Leu)
c.71272A>C (p.Met23758Leu)
c.70897A>C (p.Met23633Leu)
c.98092A>C (p.Met32698Leu)
c.93169A>C (p.Met31057Leu)
n.446+16438T>G
n.1841-33T>G
c.97189A>C (p.Met32397Leu)
c.71083A>C (p.Met23695Leu)
c.70942A>C (p.Met23648Leu)
c.96985A>C (p.Met32329Leu)
c.92383A>C (p.Met30795Leu)
c.92380A>C (p.Met30794Leu)
c.89422A>C (p.Met29808Leu)
c.71038A>C (p.Met23680Leu)
c.92533A>C (p.Met30845Leu)
c.92530A>C (p.Met30844Leu)
c.91963A>C (p.Met30655Leu)
c.89305A>C (p.Met29769Leu)
c.89224A>C (p.Met29742Leu)
c.70987A>C (p.Met23663Leu)
c.60841A>C (p.Met20281Leu)
2g.178540074T=CA1310516610TTN,TTN-AS1c.90388A= (p.Met30130=)
c.71473A= (p.Met23825=)
c.71272A= (p.Met23758=)
c.70897A= (p.Met23633=)
c.98092A= (p.Met32698=)
c.93169A= (p.Met31057=)
n.446+16438T=
n.1841-33T=
c.97189A= (p.Met32397=)
c.71083A= (p.Met23695=)
c.70942A= (p.Met23648=)
c.96985A= (p.Met32329=)
c.92383A= (p.Met30795=)
c.92380A= (p.Met30794=)
c.89422A= (p.Met29808=)
c.71038A= (p.Met23680=)
c.92533A= (p.Met30845=)
c.92530A= (p.Met30844=)
c.91963A= (p.Met30655=)
c.89305A= (p.Met29769=)
c.89224A= (p.Met29742=)
c.70987A= (p.Met23663=)
c.60841A= (p.Met20281=)
2g.178540075T>ACA349434898TTN,TTN-AS1c.90387A>T (p.Glu30129Asp)
c.71472A>T (p.Glu23824Asp)
c.71271A>T (p.Glu23757Asp)
c.70896A>T (p.Glu23632Asp)
c.98091A>T (p.Glu32697Asp)
c.93168A>T (p.Glu31056Asp)
n.446+16439T>A
n.1841-32T>A
c.97188A>T (p.Glu32396Asp)
c.71082A>T (p.Glu23694Asp)
c.70941A>T (p.Glu23647Asp)
c.96984A>T (p.Glu32328Asp)
c.92382A>T (p.Glu30794Asp)
c.92379A>T (p.Glu30793Asp)
c.89421A>T (p.Glu29807Asp)
c.71037A>T (p.Glu23679Asp)
c.92532A>T (p.Glu30844Asp)
c.92529A>T (p.Glu30843Asp)
c.91962A>T (p.Glu30654Asp)
c.89304A>T (p.Glu29768Asp)
c.89223A>T (p.Glu29741Asp)
c.70986A>T (p.Glu23662Asp)
c.60840A>T (p.Glu20280Asp)
2g.178540075T>CCA430240582TTN,TTN-AS1c.90387A>G (p.Glu30129=)
c.71472A>G (p.Glu23824=)
c.71271A>G (p.Glu23757=)
c.70896A>G (p.Glu23632=)
c.98091A>G (p.Glu32697=)
c.93168A>G (p.Glu31056=)
n.446+16439T>C
n.1841-32T>C
c.97188A>G (p.Glu32396=)
c.71082A>G (p.Glu23694=)
c.70941A>G (p.Glu23647=)
c.96984A>G (p.Glu32328=)
c.92382A>G (p.Glu30794=)
c.92379A>G (p.Glu30793=)
c.89421A>G (p.Glu29807=)
c.71037A>G (p.Glu23679=)
c.92532A>G (p.Glu30844=)
c.92529A>G (p.Glu30843=)
c.91962A>G (p.Glu30654=)
c.89304A>G (p.Glu29768=)
c.89223A>G (p.Glu29741=)
c.70986A>G (p.Glu23662=)
c.60840A>G (p.Glu20280=)
2g.178540075T>GCA1986445TTN,TTN-AS1c.90387A>C (p.Glu30129Asp)
c.71472A>C (p.Glu23824Asp)
c.71271A>C (p.Glu23757Asp)
c.70896A>C (p.Glu23632Asp)
c.98091A>C (p.Glu32697Asp)
c.93168A>C (p.Glu31056Asp)
n.446+16439T>G
n.1841-32T>G
c.97188A>C (p.Glu32396Asp)
c.71082A>C (p.Glu23694Asp)
c.70941A>C (p.Glu23647Asp)
c.96984A>C (p.Glu32328Asp)
c.92382A>C (p.Glu30794Asp)
c.92379A>C (p.Glu30793Asp)
c.89421A>C (p.Glu29807Asp)
c.71037A>C (p.Glu23679Asp)
c.92532A>C (p.Glu30844Asp)
c.92529A>C (p.Glu30843Asp)
c.91962A>C (p.Glu30654Asp)
c.89304A>C (p.Glu29768Asp)
c.89223A>C (p.Glu29741Asp)
c.70986A>C (p.Glu23662Asp)
c.60840A>C (p.Glu20280Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178540075T=CA1310516611TTN,TTN-AS1c.90387A= (p.Glu30129=)
c.71472A= (p.Glu23824=)
c.71271A= (p.Glu23757=)
c.70896A= (p.Glu23632=)
c.98091A= (p.Glu32697=)
c.93168A= (p.Glu31056=)
n.446+16439T=
n.1841-32T=
c.97188A= (p.Glu32396=)
c.71082A= (p.Glu23694=)
c.70941A= (p.Glu23647=)
c.96984A= (p.Glu32328=)
c.92382A= (p.Glu30794=)
c.92379A= (p.Glu30793=)
c.89421A= (p.Glu29807=)
c.71037A= (p.Glu23679=)
c.92532A= (p.Glu30844=)
c.92529A= (p.Glu30843=)
c.91962A= (p.Glu30654=)
c.89304A= (p.Glu29768=)
c.89223A= (p.Glu29741=)
c.70986A= (p.Glu23662=)
c.60840A= (p.Glu20280=)
2g.178540076T>ACA349434904TTN,TTN-AS1c.90386A>T (p.Glu30129Val)
c.71471A>T (p.Glu23824Val)
c.71270A>T (p.Glu23757Val)
c.70895A>T (p.Glu23632Val)
c.98090A>T (p.Glu32697Val)
c.93167A>T (p.Glu31056Val)
n.446+16440T>A
n.1841-31T>A
c.97187A>T (p.Glu32396Val)
c.71081A>T (p.Glu23694Val)
c.70940A>T (p.Glu23647Val)
c.96983A>T (p.Glu32328Val)
c.92381A>T (p.Glu30794Val)
c.92378A>T (p.Glu30793Val)
c.89420A>T (p.Glu29807Val)
c.71036A>T (p.Glu23679Val)
c.92531A>T (p.Glu30844Val)
c.92528A>T (p.Glu30843Val)
c.91961A>T (p.Glu30654Val)
c.89303A>T (p.Glu29768Val)
c.89222A>T (p.Glu29741Val)
c.70985A>T (p.Glu23662Val)
c.60839A>T (p.Glu20280Val)
2g.178540076T>CCA349434903TTN,TTN-AS1c.90386A>G (p.Glu30129Gly)
c.71471A>G (p.Glu23824Gly)
c.71270A>G (p.Glu23757Gly)
c.70895A>G (p.Glu23632Gly)
c.98090A>G (p.Glu32697Gly)
c.93167A>G (p.Glu31056Gly)
n.446+16440T>C
n.1841-31T>C
c.97187A>G (p.Glu32396Gly)
c.71081A>G (p.Glu23694Gly)
c.70940A>G (p.Glu23647Gly)
c.96983A>G (p.Glu32328Gly)
c.92381A>G (p.Glu30794Gly)
c.92378A>G (p.Glu30793Gly)
c.89420A>G (p.Glu29807Gly)
c.71036A>G (p.Glu23679Gly)
c.92531A>G (p.Glu30844Gly)
c.92528A>G (p.Glu30843Gly)
c.91961A>G (p.Glu30654Gly)
c.89303A>G (p.Glu29768Gly)
c.89222A>G (p.Glu29741Gly)
c.70985A>G (p.Glu23662Gly)
c.60839A>G (p.Glu20280Gly)
2g.178540076T>GCA349434902TTN,TTN-AS1c.90386A>C (p.Glu30129Ala)
c.71471A>C (p.Glu23824Ala)
c.71270A>C (p.Glu23757Ala)
c.70895A>C (p.Glu23632Ala)
c.98090A>C (p.Glu32697Ala)
c.93167A>C (p.Glu31056Ala)
n.446+16440T>G
n.1841-31T>G
c.97187A>C (p.Glu32396Ala)
c.71081A>C (p.Glu23694Ala)
c.70940A>C (p.Glu23647Ala)
c.96983A>C (p.Glu32328Ala)
c.92381A>C (p.Glu30794Ala)
c.92378A>C (p.Glu30793Ala)
c.89420A>C (p.Glu29807Ala)
c.71036A>C (p.Glu23679Ala)
c.92531A>C (p.Glu30844Ala)
c.92528A>C (p.Glu30843Ala)
c.91961A>C (p.Glu30654Ala)
c.89303A>C (p.Glu29768Ala)
c.89222A>C (p.Glu29741Ala)
c.70985A>C (p.Glu23662Ala)
c.60839A>C (p.Glu20280Ala)
2g.178540077C>ACA349434907TTN,TTN-AS1c.90385G>T (p.Glu30129Ter)
c.71470G>T (p.Glu23824Ter)
c.71269G>T (p.Glu23757Ter)
c.70894G>T (p.Glu23632Ter)
c.98089G>T (p.Glu32697Ter)
c.93166G>T (p.Glu31056Ter)
n.446+16441C>A
n.1841-30C>A
c.97186G>T (p.Glu32396Ter)
c.71080G>T (p.Glu23694Ter)
c.70939G>T (p.Glu23647Ter)
c.96982G>T (p.Glu32328Ter)
c.92380G>T (p.Glu30794Ter)
c.92377G>T (p.Glu30793Ter)
c.89419G>T (p.Glu29807Ter)
c.71035G>T (p.Glu23679Ter)
c.92530G>T (p.Glu30844Ter)
c.92527G>T (p.Glu30843Ter)
c.91960G>T (p.Glu30654Ter)
c.89302G>T (p.Glu29768Ter)
c.89221G>T (p.Glu29741Ter)
c.70984G>T (p.Glu23662Ter)
c.60838G>T (p.Glu20280Ter)
2g.178540077C>GCA349434908TTN,TTN-AS1c.90385G>C (p.Glu30129Gln)
c.71470G>C (p.Glu23824Gln)
c.71269G>C (p.Glu23757Gln)
c.70894G>C (p.Glu23632Gln)
c.98089G>C (p.Glu32697Gln)
c.93166G>C (p.Glu31056Gln)
n.446+16441C>G
n.1841-30C>G
c.97186G>C (p.Glu32396Gln)
c.71080G>C (p.Glu23694Gln)
c.70939G>C (p.Glu23647Gln)
c.96982G>C (p.Glu32328Gln)
c.92380G>C (p.Glu30794Gln)
c.92377G>C (p.Glu30793Gln)
c.89419G>C (p.Glu29807Gln)
c.71035G>C (p.Glu23679Gln)
c.92530G>C (p.Glu30844Gln)
c.92527G>C (p.Glu30843Gln)
c.91960G>C (p.Glu30654Gln)
c.89302G>C (p.Glu29768Gln)
c.89221G>C (p.Glu29741Gln)
c.70984G>C (p.Glu23662Gln)
c.60838G>C (p.Glu20280Gln)
2g.178540077C>TCA349434911TTN,TTN-AS1c.90385G>A (p.Glu30129Lys)
c.71470G>A (p.Glu23824Lys)
c.71269G>A (p.Glu23757Lys)
c.70894G>A (p.Glu23632Lys)
c.98089G>A (p.Glu32697Lys)
c.93166G>A (p.Glu31056Lys)
n.446+16441C>T
n.1841-30C>T
c.97186G>A (p.Glu32396Lys)
c.71080G>A (p.Glu23694Lys)
c.70939G>A (p.Glu23647Lys)
c.96982G>A (p.Glu32328Lys)
c.92380G>A (p.Glu30794Lys)
c.92377G>A (p.Glu30793Lys)
c.89419G>A (p.Glu29807Lys)
c.71035G>A (p.Glu23679Lys)
c.92530G>A (p.Glu30844Lys)
c.92527G>A (p.Glu30843Lys)
c.91960G>A (p.Glu30654Lys)
c.89302G>A (p.Glu29768Lys)
c.89221G>A (p.Glu29741Lys)
c.70984G>A (p.Glu23662Lys)
c.60838G>A (p.Glu20280Lys)
2g.178540078A>CCA430240589TTN,TTN-AS1c.90384T>G (p.Thr30128=)
c.71469T>G (p.Thr23823=)
c.71268T>G (p.Thr23756=)
c.70893T>G (p.Thr23631=)
c.98088T>G (p.Thr32696=)
c.93165T>G (p.Thr31055=)
n.446+16442A>C
n.1841-29A>C
c.97185T>G (p.Thr32395=)
c.71079T>G (p.Thr23693=)
c.70938T>G (p.Thr23646=)
c.96981T>G (p.Thr32327=)
c.92379T>G (p.Thr30793=)
c.92376T>G (p.Thr30792=)
c.89418T>G (p.Thr29806=)
c.71034T>G (p.Thr23678=)
c.92529T>G (p.Thr30843=)
c.92526T>G (p.Thr30842=)
c.91959T>G (p.Thr30653=)
c.89301T>G (p.Thr29767=)
c.89220T>G (p.Thr29740=)
c.70983T>G (p.Thr23661=)
c.60837T>G (p.Thr20279=)
2g.178540078A>GCA430240590TTN,TTN-AS1c.90384T>C (p.Thr30128=)
c.71469T>C (p.Thr23823=)
c.71268T>C (p.Thr23756=)
c.70893T>C (p.Thr23631=)
c.98088T>C (p.Thr32696=)
c.93165T>C (p.Thr31055=)
n.446+16442A>G
n.1841-29A>G
c.97185T>C (p.Thr32395=)
c.71079T>C (p.Thr23693=)
c.70938T>C (p.Thr23646=)
c.96981T>C (p.Thr32327=)
c.92379T>C (p.Thr30793=)
c.92376T>C (p.Thr30792=)
c.89418T>C (p.Thr29806=)
c.71034T>C (p.Thr23678=)
c.92529T>C (p.Thr30843=)
c.92526T>C (p.Thr30842=)
c.91959T>C (p.Thr30653=)
c.89301T>C (p.Thr29767=)
c.89220T>C (p.Thr29740=)
c.70983T>C (p.Thr23661=)
c.60837T>C (p.Thr20279=)
2g.178540078A>TCA430240591TTN,TTN-AS1c.90384T>A (p.Thr30128=)
c.71469T>A (p.Thr23823=)
c.71268T>A (p.Thr23756=)
c.70893T>A (p.Thr23631=)
c.98088T>A (p.Thr32696=)
c.93165T>A (p.Thr31055=)
n.446+16442A>T
n.1841-29A>T
c.97185T>A (p.Thr32395=)
c.71079T>A (p.Thr23693=)
c.70938T>A (p.Thr23646=)
c.96981T>A (p.Thr32327=)
c.92379T>A (p.Thr30793=)
c.92376T>A (p.Thr30792=)
c.89418T>A (p.Thr29806=)
c.71034T>A (p.Thr23678=)
c.92529T>A (p.Thr30843=)
c.92526T>A (p.Thr30842=)
c.91959T>A (p.Thr30653=)
c.89301T>A (p.Thr29767=)
c.89220T>A (p.Thr29740=)
c.70983T>A (p.Thr23661=)
c.60837T>A (p.Thr20279=)
2g.178540079G>ACA349434912TTN,TTN-AS1c.90383C>T (p.Thr30128Ile)
c.71468C>T (p.Thr23823Ile)
c.71267C>T (p.Thr23756Ile)
c.70892C>T (p.Thr23631Ile)
c.98087C>T (p.Thr32696Ile)
c.93164C>T (p.Thr31055Ile)
n.446+16443G>A
n.1841-28G>A
c.97184C>T (p.Thr32395Ile)
c.71078C>T (p.Thr23693Ile)
c.70937C>T (p.Thr23646Ile)
c.96980C>T (p.Thr32327Ile)
c.92378C>T (p.Thr30793Ile)
c.92375C>T (p.Thr30792Ile)
c.89417C>T (p.Thr29806Ile)
c.71033C>T (p.Thr23678Ile)
c.92528C>T (p.Thr30843Ile)
c.92525C>T (p.Thr30842Ile)
c.91958C>T (p.Thr30653Ile)
c.89300C>T (p.Thr29767Ile)
c.89219C>T (p.Thr29740Ile)
c.70982C>T (p.Thr23661Ile)
c.60836C>T (p.Thr20279Ile)
 gnomAD v4
2g.178540079G>CCA349434914TTN,TTN-AS1c.90383C>G (p.Thr30128Ser)
c.71468C>G (p.Thr23823Ser)
c.71267C>G (p.Thr23756Ser)
c.70892C>G (p.Thr23631Ser)
c.98087C>G (p.Thr32696Ser)
c.93164C>G (p.Thr31055Ser)
n.446+16443G>C
n.1841-28G>C
c.97184C>G (p.Thr32395Ser)
c.71078C>G (p.Thr23693Ser)
c.70937C>G (p.Thr23646Ser)
c.96980C>G (p.Thr32327Ser)
c.92378C>G (p.Thr30793Ser)
c.92375C>G (p.Thr30792Ser)
c.89417C>G (p.Thr29806Ser)
c.71033C>G (p.Thr23678Ser)
c.92528C>G (p.Thr30843Ser)
c.92525C>G (p.Thr30842Ser)
c.91958C>G (p.Thr30653Ser)
c.89300C>G (p.Thr29767Ser)
c.89219C>G (p.Thr29740Ser)
c.70982C>G (p.Thr23661Ser)
c.60836C>G (p.Thr20279Ser)
2g.178540079G>TCA349434916TTN,TTN-AS1c.90383C>A (p.Thr30128Asn)
c.71468C>A (p.Thr23823Asn)
c.71267C>A (p.Thr23756Asn)
c.70892C>A (p.Thr23631Asn)
c.98087C>A (p.Thr32696Asn)
c.93164C>A (p.Thr31055Asn)
n.446+16443G>T
n.1841-28G>T
c.97184C>A (p.Thr32395Asn)
c.71078C>A (p.Thr23693Asn)
c.70937C>A (p.Thr23646Asn)
c.96980C>A (p.Thr32327Asn)
c.92378C>A (p.Thr30793Asn)
c.92375C>A (p.Thr30792Asn)
c.89417C>A (p.Thr29806Asn)
c.71033C>A (p.Thr23678Asn)
c.92528C>A (p.Thr30843Asn)
c.92525C>A (p.Thr30842Asn)
c.91958C>A (p.Thr30653Asn)
c.89300C>A (p.Thr29767Asn)
c.89219C>A (p.Thr29740Asn)
c.70982C>A (p.Thr23661Asn)
c.60836C>A (p.Thr20279Asn)
2g.178540080T>ACA349434918TTN,TTN-AS1c.90382A>T (p.Thr30128Ser)
c.71467A>T (p.Thr23823Ser)
c.71266A>T (p.Thr23756Ser)
c.70891A>T (p.Thr23631Ser)
c.98086A>T (p.Thr32696Ser)
c.93163A>T (p.Thr31055Ser)
n.446+16444T>A
n.1841-27T>A
c.97183A>T (p.Thr32395Ser)
c.71077A>T (p.Thr23693Ser)
c.70936A>T (p.Thr23646Ser)
c.96979A>T (p.Thr32327Ser)
c.92377A>T (p.Thr30793Ser)
c.92374A>T (p.Thr30792Ser)
c.89416A>T (p.Thr29806Ser)
c.71032A>T (p.Thr23678Ser)
c.92527A>T (p.Thr30843Ser)
c.92524A>T (p.Thr30842Ser)
c.91957A>T (p.Thr30653Ser)
c.89299A>T (p.Thr29767Ser)
c.89218A>T (p.Thr29740Ser)
c.70981A>T (p.Thr23661Ser)
c.60835A>T (p.Thr20279Ser)
2g.178540080T>CCA349434921TTN,TTN-AS1c.90382A>G (p.Thr30128Ala)
c.71467A>G (p.Thr23823Ala)
c.71266A>G (p.Thr23756Ala)
c.70891A>G (p.Thr23631Ala)
c.98086A>G (p.Thr32696Ala)
c.93163A>G (p.Thr31055Ala)
n.446+16444T>C
n.1841-27T>C
c.97183A>G (p.Thr32395Ala)
c.71077A>G (p.Thr23693Ala)
c.70936A>G (p.Thr23646Ala)
c.96979A>G (p.Thr32327Ala)
c.92377A>G (p.Thr30793Ala)
c.92374A>G (p.Thr30792Ala)
c.89416A>G (p.Thr29806Ala)
c.71032A>G (p.Thr23678Ala)
c.92527A>G (p.Thr30843Ala)
c.92524A>G (p.Thr30842Ala)
c.91957A>G (p.Thr30653Ala)
c.89299A>G (p.Thr29767Ala)
c.89218A>G (p.Thr29740Ala)
c.70981A>G (p.Thr23661Ala)
c.60835A>G (p.Thr20279Ala)
2g.178540080T>GCA349434919TTN,TTN-AS1c.90382A>C (p.Thr30128Pro)
c.71467A>C (p.Thr23823Pro)
c.71266A>C (p.Thr23756Pro)
c.70891A>C (p.Thr23631Pro)
c.98086A>C (p.Thr32696Pro)
c.93163A>C (p.Thr31055Pro)
n.446+16444T>G
n.1841-27T>G
c.97183A>C (p.Thr32395Pro)
c.71077A>C (p.Thr23693Pro)
c.70936A>C (p.Thr23646Pro)
c.96979A>C (p.Thr32327Pro)
c.92377A>C (p.Thr30793Pro)
c.92374A>C (p.Thr30792Pro)
c.89416A>C (p.Thr29806Pro)
c.71032A>C (p.Thr23678Pro)
c.92527A>C (p.Thr30843Pro)
c.92524A>C (p.Thr30842Pro)
c.91957A>C (p.Thr30653Pro)
c.89299A>C (p.Thr29767Pro)
c.89218A>C (p.Thr29740Pro)
c.70981A>C (p.Thr23661Pro)
c.60835A>C (p.Thr20279Pro)

Number of alleles fetched