Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.178530039A>CCA430093844TTN,TTN-AS1c.98748T>G (p.Thr32916=)
c.79833T>G (p.Thr26611=)
c.79632T>G (p.Thr26544=)
c.79257T>G (p.Thr26419=)
c.106452T>G (p.Thr35484=)
c.101529T>G (p.Thr33843=)
n.446+6403A>C
n.220-5693A>C
c.105549T>G (p.Thr35183=)
c.79443T>G (p.Thr26481=)
c.79302T>G (p.Thr26434=)
c.105345T>G (p.Thr35115=)
c.100743T>G (p.Thr33581=)
c.100740T>G (p.Thr33580=)
c.97782T>G (p.Thr32594=)
c.79398T>G (p.Thr26466=)
c.100893T>G (p.Thr33631=)
c.100890T>G (p.Thr33630=)
c.100323T>G (p.Thr33441=)
c.97665T>G (p.Thr32555=)
c.97584T>G (p.Thr32528=)
c.79347T>G (p.Thr26449=)
c.69201T>G (p.Thr23067=)
2g.178530039A>GCA430093846TTN,TTN-AS1c.98748T>C (p.Thr32916=)
c.79833T>C (p.Thr26611=)
c.79632T>C (p.Thr26544=)
c.79257T>C (p.Thr26419=)
c.106452T>C (p.Thr35484=)
c.101529T>C (p.Thr33843=)
n.446+6403A>G
n.220-5693A>G
c.105549T>C (p.Thr35183=)
c.79443T>C (p.Thr26481=)
c.79302T>C (p.Thr26434=)
c.105345T>C (p.Thr35115=)
c.100743T>C (p.Thr33581=)
c.100740T>C (p.Thr33580=)
c.97782T>C (p.Thr32594=)
c.79398T>C (p.Thr26466=)
c.100893T>C (p.Thr33631=)
c.100890T>C (p.Thr33630=)
c.100323T>C (p.Thr33441=)
c.97665T>C (p.Thr32555=)
c.97584T>C (p.Thr32528=)
c.79347T>C (p.Thr26449=)
c.69201T>C (p.Thr23067=)
2g.178530039A>TCA430093848TTN,TTN-AS1c.98748T>A (p.Thr32916=)
c.79833T>A (p.Thr26611=)
c.79632T>A (p.Thr26544=)
c.79257T>A (p.Thr26419=)
c.106452T>A (p.Thr35484=)
c.101529T>A (p.Thr33843=)
n.446+6403A>T
n.220-5693A>T
c.105549T>A (p.Thr35183=)
c.79443T>A (p.Thr26481=)
c.79302T>A (p.Thr26434=)
c.105345T>A (p.Thr35115=)
c.100743T>A (p.Thr33581=)
c.100740T>A (p.Thr33580=)
c.97782T>A (p.Thr32594=)
c.79398T>A (p.Thr26466=)
c.100893T>A (p.Thr33631=)
c.100890T>A (p.Thr33630=)
c.100323T>A (p.Thr33441=)
c.97665T>A (p.Thr32555=)
c.97584T>A (p.Thr32528=)
c.79347T>A (p.Thr26449=)
c.69201T>A (p.Thr23067=)
2g.178530040G>ACA349405217TTN,TTN-AS1c.98747C>T (p.Thr32916Ile)
c.79832C>T (p.Thr26611Ile)
c.79631C>T (p.Thr26544Ile)
c.79256C>T (p.Thr26419Ile)
c.106451C>T (p.Thr35484Ile)
c.101528C>T (p.Thr33843Ile)
n.446+6404G>A
n.220-5692G>A
c.105548C>T (p.Thr35183Ile)
c.79442C>T (p.Thr26481Ile)
c.79301C>T (p.Thr26434Ile)
c.105344C>T (p.Thr35115Ile)
c.100742C>T (p.Thr33581Ile)
c.100739C>T (p.Thr33580Ile)
c.97781C>T (p.Thr32594Ile)
c.79397C>T (p.Thr26466Ile)
c.100892C>T (p.Thr33631Ile)
c.100889C>T (p.Thr33630Ile)
c.100322C>T (p.Thr33441Ile)
c.97664C>T (p.Thr32555Ile)
c.97583C>T (p.Thr32528Ile)
c.79346C>T (p.Thr26449Ile)
c.69200C>T (p.Thr23067Ile)
 dbSNP gnomAD v3 gnomAD v4
2g.178530040G>CCA1985102TTN,TTN-AS1c.98747C>G (p.Thr32916Ser)
c.79832C>G (p.Thr26611Ser)
c.79631C>G (p.Thr26544Ser)
c.79256C>G (p.Thr26419Ser)
c.106451C>G (p.Thr35484Ser)
c.101528C>G (p.Thr33843Ser)
n.446+6404G>C
n.220-5692G>C
c.105548C>G (p.Thr35183Ser)
c.79442C>G (p.Thr26481Ser)
c.79301C>G (p.Thr26434Ser)
c.105344C>G (p.Thr35115Ser)
c.100742C>G (p.Thr33581Ser)
c.100739C>G (p.Thr33580Ser)
c.97781C>G (p.Thr32594Ser)
c.79397C>G (p.Thr26466Ser)
c.100892C>G (p.Thr33631Ser)
c.100889C>G (p.Thr33630Ser)
c.100322C>G (p.Thr33441Ser)
c.97664C>G (p.Thr32555Ser)
c.97583C>G (p.Thr32528Ser)
c.79346C>G (p.Thr26449Ser)
c.69200C>G (p.Thr23067Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178530040G=CA1310511367TTN,TTN-AS1c.98747C= (p.Thr32916=)
c.79832C= (p.Thr26611=)
c.79631C= (p.Thr26544=)
c.79256C= (p.Thr26419=)
c.106451C= (p.Thr35484=)
c.101528C= (p.Thr33843=)
n.446+6404G=
n.220-5692G=
c.105548C= (p.Thr35183=)
c.79442C= (p.Thr26481=)
c.79301C= (p.Thr26434=)
c.105344C= (p.Thr35115=)
c.100742C= (p.Thr33581=)
c.100739C= (p.Thr33580=)
c.97781C= (p.Thr32594=)
c.79397C= (p.Thr26466=)
c.100892C= (p.Thr33631=)
c.100889C= (p.Thr33630=)
c.100322C= (p.Thr33441=)
c.97664C= (p.Thr32555=)
c.97583C= (p.Thr32528=)
c.79346C= (p.Thr26449=)
c.69200C= (p.Thr23067=)
2g.178530040G>TCA16610278TTN,TTN-AS1c.98747C>A (p.Thr32916Asn)
c.79832C>A (p.Thr26611Asn)
c.79631C>A (p.Thr26544Asn)
c.79256C>A (p.Thr26419Asn)
c.106451C>A (p.Thr35484Asn)
c.101528C>A (p.Thr33843Asn)
n.446+6404G>T
n.220-5692G>T
c.105548C>A (p.Thr35183Asn)
c.79442C>A (p.Thr26481Asn)
c.79301C>A (p.Thr26434Asn)
c.105344C>A (p.Thr35115Asn)
c.100742C>A (p.Thr33581Asn)
c.100739C>A (p.Thr33580Asn)
c.97781C>A (p.Thr32594Asn)
c.79397C>A (p.Thr26466Asn)
c.100892C>A (p.Thr33631Asn)
c.100889C>A (p.Thr33630Asn)
c.100322C>A (p.Thr33441Asn)
c.97664C>A (p.Thr32555Asn)
c.97583C>A (p.Thr32528Asn)
c.79346C>A (p.Thr26449Asn)
c.69200C>A (p.Thr23067Asn)
 ClinVar dbSNP gnomAD v4
2g.178530041T>ACA349405220TTN,TTN-AS1c.98746A>T (p.Thr32916Ser)
c.79831A>T (p.Thr26611Ser)
c.79630A>T (p.Thr26544Ser)
c.79255A>T (p.Thr26419Ser)
c.106450A>T (p.Thr35484Ser)
c.101527A>T (p.Thr33843Ser)
n.446+6405T>A
n.220-5691T>A
c.105547A>T (p.Thr35183Ser)
c.79441A>T (p.Thr26481Ser)
c.79300A>T (p.Thr26434Ser)
c.105343A>T (p.Thr35115Ser)
c.100741A>T (p.Thr33581Ser)
c.100738A>T (p.Thr33580Ser)
c.97780A>T (p.Thr32594Ser)
c.79396A>T (p.Thr26466Ser)
c.100891A>T (p.Thr33631Ser)
c.100888A>T (p.Thr33630Ser)
c.100321A>T (p.Thr33441Ser)
c.97663A>T (p.Thr32555Ser)
c.97582A>T (p.Thr32528Ser)
c.79345A>T (p.Thr26449Ser)
c.69199A>T (p.Thr23067Ser)
2g.178530041T>CCA349405222TTN,TTN-AS1c.98746A>G (p.Thr32916Ala)
c.79831A>G (p.Thr26611Ala)
c.79630A>G (p.Thr26544Ala)
c.79255A>G (p.Thr26419Ala)
c.106450A>G (p.Thr35484Ala)
c.101527A>G (p.Thr33843Ala)
n.446+6405T>C
n.220-5691T>C
c.105547A>G (p.Thr35183Ala)
c.79441A>G (p.Thr26481Ala)
c.79300A>G (p.Thr26434Ala)
c.105343A>G (p.Thr35115Ala)
c.100741A>G (p.Thr33581Ala)
c.100738A>G (p.Thr33580Ala)
c.97780A>G (p.Thr32594Ala)
c.79396A>G (p.Thr26466Ala)
c.100891A>G (p.Thr33631Ala)
c.100888A>G (p.Thr33630Ala)
c.100321A>G (p.Thr33441Ala)
c.97663A>G (p.Thr32555Ala)
c.97582A>G (p.Thr32528Ala)
c.79345A>G (p.Thr26449Ala)
c.69199A>G (p.Thr23067Ala)
2g.178530041T>GCA349405223TTN,TTN-AS1c.98746A>C (p.Thr32916Pro)
c.79831A>C (p.Thr26611Pro)
c.79630A>C (p.Thr26544Pro)
c.79255A>C (p.Thr26419Pro)
c.106450A>C (p.Thr35484Pro)
c.101527A>C (p.Thr33843Pro)
n.446+6405T>G
n.220-5691T>G
c.105547A>C (p.Thr35183Pro)
c.79441A>C (p.Thr26481Pro)
c.79300A>C (p.Thr26434Pro)
c.105343A>C (p.Thr35115Pro)
c.100741A>C (p.Thr33581Pro)
c.100738A>C (p.Thr33580Pro)
c.97780A>C (p.Thr32594Pro)
c.79396A>C (p.Thr26466Pro)
c.100891A>C (p.Thr33631Pro)
c.100888A>C (p.Thr33630Pro)
c.100321A>C (p.Thr33441Pro)
c.97663A>C (p.Thr32555Pro)
c.97582A>C (p.Thr32528Pro)
c.79345A>C (p.Thr26449Pro)
c.69199A>C (p.Thr23067Pro)
 gnomAD v4
2g.178530042A>CCA349405225TTN,TTN-AS1c.98745T>G (p.Asp32915Glu)
c.79830T>G (p.Asp26610Glu)
c.79629T>G (p.Asp26543Glu)
c.79254T>G (p.Asp26418Glu)
c.106449T>G (p.Asp35483Glu)
c.101526T>G (p.Asp33842Glu)
n.446+6406A>C
n.220-5690A>C
c.105546T>G (p.Asp35182Glu)
c.79440T>G (p.Asp26480Glu)
c.79299T>G (p.Asp26433Glu)
c.105342T>G (p.Asp35114Glu)
c.100740T>G (p.Asp33580Glu)
c.100737T>G (p.Asp33579Glu)
c.97779T>G (p.Asp32593Glu)
c.79395T>G (p.Asp26465Glu)
c.100890T>G (p.Asp33630Glu)
c.100887T>G (p.Asp33629Glu)
c.100320T>G (p.Asp33440Glu)
c.97662T>G (p.Asp32554Glu)
c.97581T>G (p.Asp32527Glu)
c.79344T>G (p.Asp26448Glu)
c.69198T>G (p.Asp23066Glu)
2g.178530042A>GCA430093857TTN,TTN-AS1c.98745T>C (p.Asp32915=)
c.79830T>C (p.Asp26610=)
c.79629T>C (p.Asp26543=)
c.79254T>C (p.Asp26418=)
c.106449T>C (p.Asp35483=)
c.101526T>C (p.Asp33842=)
n.446+6406A>G
n.220-5690A>G
c.105546T>C (p.Asp35182=)
c.79440T>C (p.Asp26480=)
c.79299T>C (p.Asp26433=)
c.105342T>C (p.Asp35114=)
c.100740T>C (p.Asp33580=)
c.100737T>C (p.Asp33579=)
c.97779T>C (p.Asp32593=)
c.79395T>C (p.Asp26465=)
c.100890T>C (p.Asp33630=)
c.100887T>C (p.Asp33629=)
c.100320T>C (p.Asp33440=)
c.97662T>C (p.Asp32554=)
c.97581T>C (p.Asp32527=)
c.79344T>C (p.Asp26448=)
c.69198T>C (p.Asp23066=)
2g.178530042A>TCA349405224TTN,TTN-AS1c.98745T>A (p.Asp32915Glu)
c.79830T>A (p.Asp26610Glu)
c.79629T>A (p.Asp26543Glu)
c.79254T>A (p.Asp26418Glu)
c.106449T>A (p.Asp35483Glu)
c.101526T>A (p.Asp33842Glu)
n.446+6406A>T
n.220-5690A>T
c.105546T>A (p.Asp35182Glu)
c.79440T>A (p.Asp26480Glu)
c.79299T>A (p.Asp26433Glu)
c.105342T>A (p.Asp35114Glu)
c.100740T>A (p.Asp33580Glu)
c.100737T>A (p.Asp33579Glu)
c.97779T>A (p.Asp32593Glu)
c.79395T>A (p.Asp26465Glu)
c.100890T>A (p.Asp33630Glu)
c.100887T>A (p.Asp33629Glu)
c.100320T>A (p.Asp33440Glu)
c.97662T>A (p.Asp32554Glu)
c.97581T>A (p.Asp32527Glu)
c.79344T>A (p.Asp26448Glu)
c.69198T>A (p.Asp23066Glu)
2g.178530043T>ACA349405226TTN,TTN-AS1c.98744A>T (p.Asp32915Val)
c.79829A>T (p.Asp26610Val)
c.79628A>T (p.Asp26543Val)
c.79253A>T (p.Asp26418Val)
c.106448A>T (p.Asp35483Val)
c.101525A>T (p.Asp33842Val)
n.446+6407T>A
n.220-5689T>A
c.105545A>T (p.Asp35182Val)
c.79439A>T (p.Asp26480Val)
c.79298A>T (p.Asp26433Val)
c.105341A>T (p.Asp35114Val)
c.100739A>T (p.Asp33580Val)
c.100736A>T (p.Asp33579Val)
c.97778A>T (p.Asp32593Val)
c.79394A>T (p.Asp26465Val)
c.100889A>T (p.Asp33630Val)
c.100886A>T (p.Asp33629Val)
c.100319A>T (p.Asp33440Val)
c.97661A>T (p.Asp32554Val)
c.97580A>T (p.Asp32527Val)
c.79343A>T (p.Asp26448Val)
c.69197A>T (p.Asp23066Val)
2g.178530043T>CCA349405227TTN,TTN-AS1c.98744A>G (p.Asp32915Gly)
c.79829A>G (p.Asp26610Gly)
c.79628A>G (p.Asp26543Gly)
c.79253A>G (p.Asp26418Gly)
c.106448A>G (p.Asp35483Gly)
c.101525A>G (p.Asp33842Gly)
n.446+6407T>C
n.220-5689T>C
c.105545A>G (p.Asp35182Gly)
c.79439A>G (p.Asp26480Gly)
c.79298A>G (p.Asp26433Gly)
c.105341A>G (p.Asp35114Gly)
c.100739A>G (p.Asp33580Gly)
c.100736A>G (p.Asp33579Gly)
c.97778A>G (p.Asp32593Gly)
c.79394A>G (p.Asp26465Gly)
c.100889A>G (p.Asp33630Gly)
c.100886A>G (p.Asp33629Gly)
c.100319A>G (p.Asp33440Gly)
c.97661A>G (p.Asp32554Gly)
c.97580A>G (p.Asp32527Gly)
c.79343A>G (p.Asp26448Gly)
c.69197A>G (p.Asp23066Gly)
2g.178530043T>GCA349405228TTN,TTN-AS1c.98744A>C (p.Asp32915Ala)
c.79829A>C (p.Asp26610Ala)
c.79628A>C (p.Asp26543Ala)
c.79253A>C (p.Asp26418Ala)
c.106448A>C (p.Asp35483Ala)
c.101525A>C (p.Asp33842Ala)
n.446+6407T>G
n.220-5689T>G
c.105545A>C (p.Asp35182Ala)
c.79439A>C (p.Asp26480Ala)
c.79298A>C (p.Asp26433Ala)
c.105341A>C (p.Asp35114Ala)
c.100739A>C (p.Asp33580Ala)
c.100736A>C (p.Asp33579Ala)
c.97778A>C (p.Asp32593Ala)
c.79394A>C (p.Asp26465Ala)
c.100889A>C (p.Asp33630Ala)
c.100886A>C (p.Asp33629Ala)
c.100319A>C (p.Asp33440Ala)
c.97661A>C (p.Asp32554Ala)
c.97580A>C (p.Asp32527Ala)
c.79343A>C (p.Asp26448Ala)
c.69197A>C (p.Asp23066Ala)
2g.178530044C>ACA349405229TTN,TTN-AS1c.98743G>T (p.Asp32915Tyr)
c.79828G>T (p.Asp26610Tyr)
c.79627G>T (p.Asp26543Tyr)
c.79252G>T (p.Asp26418Tyr)
c.106447G>T (p.Asp35483Tyr)
c.101524G>T (p.Asp33842Tyr)
n.446+6408C>A
n.220-5688C>A
c.105544G>T (p.Asp35182Tyr)
c.79438G>T (p.Asp26480Tyr)
c.79297G>T (p.Asp26433Tyr)
c.105340G>T (p.Asp35114Tyr)
c.100738G>T (p.Asp33580Tyr)
c.100735G>T (p.Asp33579Tyr)
c.97777G>T (p.Asp32593Tyr)
c.79393G>T (p.Asp26465Tyr)
c.100888G>T (p.Asp33630Tyr)
c.100885G>T (p.Asp33629Tyr)
c.100318G>T (p.Asp33440Tyr)
c.97660G>T (p.Asp32554Tyr)
c.97579G>T (p.Asp32527Tyr)
c.79342G>T (p.Asp26448Tyr)
c.69196G>T (p.Asp23066Tyr)
2g.178530044C>GCA349405230TTN,TTN-AS1c.98743G>C (p.Asp32915His)
c.79828G>C (p.Asp26610His)
c.79627G>C (p.Asp26543His)
c.79252G>C (p.Asp26418His)
c.106447G>C (p.Asp35483His)
c.101524G>C (p.Asp33842His)
n.446+6408C>G
n.220-5688C>G
c.105544G>C (p.Asp35182His)
c.79438G>C (p.Asp26480His)
c.79297G>C (p.Asp26433His)
c.105340G>C (p.Asp35114His)
c.100738G>C (p.Asp33580His)
c.100735G>C (p.Asp33579His)
c.97777G>C (p.Asp32593His)
c.79393G>C (p.Asp26465His)
c.100888G>C (p.Asp33630His)
c.100885G>C (p.Asp33629His)
c.100318G>C (p.Asp33440His)
c.97660G>C (p.Asp32554His)
c.97579G>C (p.Asp32527His)
c.79342G>C (p.Asp26448His)
c.69196G>C (p.Asp23066His)
2g.178530044C>TCA349405231TTN,TTN-AS1c.98743G>A (p.Asp32915Asn)
c.79828G>A (p.Asp26610Asn)
c.79627G>A (p.Asp26543Asn)
c.79252G>A (p.Asp26418Asn)
c.106447G>A (p.Asp35483Asn)
c.101524G>A (p.Asp33842Asn)
n.446+6408C>T
n.220-5688C>T
c.105544G>A (p.Asp35182Asn)
c.79438G>A (p.Asp26480Asn)
c.79297G>A (p.Asp26433Asn)
c.105340G>A (p.Asp35114Asn)
c.100738G>A (p.Asp33580Asn)
c.100735G>A (p.Asp33579Asn)
c.97777G>A (p.Asp32593Asn)
c.79393G>A (p.Asp26465Asn)
c.100888G>A (p.Asp33630Asn)
c.100885G>A (p.Asp33629Asn)
c.100318G>A (p.Asp33440Asn)
c.97660G>A (p.Asp32554Asn)
c.97579G>A (p.Asp32527Asn)
c.79342G>A (p.Asp26448Asn)
c.69196G>A (p.Asp23066Asn)
2g.178530045A>CCA430093862TTN,TTN-AS1c.98742T>G (p.Thr32914=)
c.79827T>G (p.Thr26609=)
c.79626T>G (p.Thr26542=)
c.79251T>G (p.Thr26417=)
c.106446T>G (p.Thr35482=)
c.101523T>G (p.Thr33841=)
n.446+6409A>C
n.220-5687A>C
c.105543T>G (p.Thr35181=)
c.79437T>G (p.Thr26479=)
c.79296T>G (p.Thr26432=)
c.105339T>G (p.Thr35113=)
c.100737T>G (p.Thr33579=)
c.100734T>G (p.Thr33578=)
c.97776T>G (p.Thr32592=)
c.79392T>G (p.Thr26464=)
c.100887T>G (p.Thr33629=)
c.100884T>G (p.Thr33628=)
c.100317T>G (p.Thr33439=)
c.97659T>G (p.Thr32553=)
c.97578T>G (p.Thr32526=)
c.79341T>G (p.Thr26447=)
c.69195T>G (p.Thr23065=)
2g.178530045A>GCA430093864TTN,TTN-AS1c.98742T>C (p.Thr32914=)
c.79827T>C (p.Thr26609=)
c.79626T>C (p.Thr26542=)
c.79251T>C (p.Thr26417=)
c.106446T>C (p.Thr35482=)
c.101523T>C (p.Thr33841=)
n.446+6409A>G
n.220-5687A>G
c.105543T>C (p.Thr35181=)
c.79437T>C (p.Thr26479=)
c.79296T>C (p.Thr26432=)
c.105339T>C (p.Thr35113=)
c.100737T>C (p.Thr33579=)
c.100734T>C (p.Thr33578=)
c.97776T>C (p.Thr32592=)
c.79392T>C (p.Thr26464=)
c.100887T>C (p.Thr33629=)
c.100884T>C (p.Thr33628=)
c.100317T>C (p.Thr33439=)
c.97659T>C (p.Thr32553=)
c.97578T>C (p.Thr32526=)
c.79341T>C (p.Thr26447=)
c.69195T>C (p.Thr23065=)
2g.178530045A>TCA430093865TTN,TTN-AS1c.98742T>A (p.Thr32914=)
c.79827T>A (p.Thr26609=)
c.79626T>A (p.Thr26542=)
c.79251T>A (p.Thr26417=)
c.106446T>A (p.Thr35482=)
c.101523T>A (p.Thr33841=)
n.446+6409A>T
n.220-5687A>T
c.105543T>A (p.Thr35181=)
c.79437T>A (p.Thr26479=)
c.79296T>A (p.Thr26432=)
c.105339T>A (p.Thr35113=)
c.100737T>A (p.Thr33579=)
c.100734T>A (p.Thr33578=)
c.97776T>A (p.Thr32592=)
c.79392T>A (p.Thr26464=)
c.100887T>A (p.Thr33629=)
c.100884T>A (p.Thr33628=)
c.100317T>A (p.Thr33439=)
c.97659T>A (p.Thr32553=)
c.97578T>A (p.Thr32526=)
c.79341T>A (p.Thr26447=)
c.69195T>A (p.Thr23065=)
2g.178530046G>ACA349405232TTN,TTN-AS1c.98741C>T (p.Thr32914Ile)
c.79826C>T (p.Thr26609Ile)
c.79625C>T (p.Thr26542Ile)
c.79250C>T (p.Thr26417Ile)
c.106445C>T (p.Thr35482Ile)
c.101522C>T (p.Thr33841Ile)
n.446+6410G>A
n.220-5686G>A
c.105542C>T (p.Thr35181Ile)
c.79436C>T (p.Thr26479Ile)
c.79295C>T (p.Thr26432Ile)
c.105338C>T (p.Thr35113Ile)
c.100736C>T (p.Thr33579Ile)
c.100733C>T (p.Thr33578Ile)
c.97775C>T (p.Thr32592Ile)
c.79391C>T (p.Thr26464Ile)
c.100886C>T (p.Thr33629Ile)
c.100883C>T (p.Thr33628Ile)
c.100316C>T (p.Thr33439Ile)
c.97658C>T (p.Thr32553Ile)
c.97577C>T (p.Thr32526Ile)
c.79340C>T (p.Thr26447Ile)
c.69194C>T (p.Thr23065Ile)
2g.178530046G>CCA141748TTN,TTN-AS1c.98741C>G (p.Thr32914Ser)
c.79826C>G (p.Thr26609Ser)
c.79625C>G (p.Thr26542Ser)
c.79250C>G (p.Thr26417Ser)
c.106445C>G (p.Thr35482Ser)
c.101522C>G (p.Thr33841Ser)
n.446+6410G>C
n.220-5686G>C
c.105542C>G (p.Thr35181Ser)
c.79436C>G (p.Thr26479Ser)
c.79295C>G (p.Thr26432Ser)
c.105338C>G (p.Thr35113Ser)
c.100736C>G (p.Thr33579Ser)
c.100733C>G (p.Thr33578Ser)
c.97775C>G (p.Thr32592Ser)
c.79391C>G (p.Thr26464Ser)
c.100886C>G (p.Thr33629Ser)
c.100883C>G (p.Thr33628Ser)
c.100316C>G (p.Thr33439Ser)
c.97658C>G (p.Thr32553Ser)
c.97577C>G (p.Thr32526Ser)
c.79340C>G (p.Thr26447Ser)
c.69194C>G (p.Thr23065Ser)
 ClinVar dbSNP
2g.178530046G=CA1310511374TTN,TTN-AS1c.98741C= (p.Thr32914=)
c.79826C= (p.Thr26609=)
c.79625C= (p.Thr26542=)
c.79250C= (p.Thr26417=)
c.106445C= (p.Thr35482=)
c.101522C= (p.Thr33841=)
n.446+6410G=
n.220-5686G=
c.105542C= (p.Thr35181=)
c.79436C= (p.Thr26479=)
c.79295C= (p.Thr26432=)
c.105338C= (p.Thr35113=)
c.100736C= (p.Thr33579=)
c.100733C= (p.Thr33578=)
c.97775C= (p.Thr32592=)
c.79391C= (p.Thr26464=)
c.100886C= (p.Thr33629=)
c.100883C= (p.Thr33628=)
c.100316C= (p.Thr33439=)
c.97658C= (p.Thr32553=)
c.97577C= (p.Thr32526=)
c.79340C= (p.Thr26447=)
c.69194C= (p.Thr23065=)
2g.178530046G>TCA349405234TTN,TTN-AS1c.98741C>A (p.Thr32914Asn)
c.79826C>A (p.Thr26609Asn)
c.79625C>A (p.Thr26542Asn)
c.79250C>A (p.Thr26417Asn)
c.106445C>A (p.Thr35482Asn)
c.101522C>A (p.Thr33841Asn)
n.446+6410G>T
n.220-5686G>T
c.105542C>A (p.Thr35181Asn)
c.79436C>A (p.Thr26479Asn)
c.79295C>A (p.Thr26432Asn)
c.105338C>A (p.Thr35113Asn)
c.100736C>A (p.Thr33579Asn)
c.100733C>A (p.Thr33578Asn)
c.97775C>A (p.Thr32592Asn)
c.79391C>A (p.Thr26464Asn)
c.100886C>A (p.Thr33629Asn)
c.100883C>A (p.Thr33628Asn)
c.100316C>A (p.Thr33439Asn)
c.97658C>A (p.Thr32553Asn)
c.97577C>A (p.Thr32526Asn)
c.79340C>A (p.Thr26447Asn)
c.69194C>A (p.Thr23065Asn)
2g.178530047T>ACA349405236TTN,TTN-AS1c.98740A>T (p.Thr32914Ser)
c.79825A>T (p.Thr26609Ser)
c.79624A>T (p.Thr26542Ser)
c.79249A>T (p.Thr26417Ser)
c.106444A>T (p.Thr35482Ser)
c.101521A>T (p.Thr33841Ser)
n.446+6411T>A
n.220-5685T>A
c.105541A>T (p.Thr35181Ser)
c.79435A>T (p.Thr26479Ser)
c.79294A>T (p.Thr26432Ser)
c.105337A>T (p.Thr35113Ser)
c.100735A>T (p.Thr33579Ser)
c.100732A>T (p.Thr33578Ser)
c.97774A>T (p.Thr32592Ser)
c.79390A>T (p.Thr26464Ser)
c.100885A>T (p.Thr33629Ser)
c.100882A>T (p.Thr33628Ser)
c.100315A>T (p.Thr33439Ser)
c.97657A>T (p.Thr32553Ser)
c.97576A>T (p.Thr32526Ser)
c.79339A>T (p.Thr26447Ser)
c.69193A>T (p.Thr23065Ser)
 ClinVar dbSNP gnomAD v4
2g.178530047T>CCA349405238TTN,TTN-AS1c.98740A>G (p.Thr32914Ala)
c.79825A>G (p.Thr26609Ala)
c.79624A>G (p.Thr26542Ala)
c.79249A>G (p.Thr26417Ala)
c.106444A>G (p.Thr35482Ala)
c.101521A>G (p.Thr33841Ala)
n.446+6411T>C
n.220-5685T>C
c.105541A>G (p.Thr35181Ala)
c.79435A>G (p.Thr26479Ala)
c.79294A>G (p.Thr26432Ala)
c.105337A>G (p.Thr35113Ala)
c.100735A>G (p.Thr33579Ala)
c.100732A>G (p.Thr33578Ala)
c.97774A>G (p.Thr32592Ala)
c.79390A>G (p.Thr26464Ala)
c.100885A>G (p.Thr33629Ala)
c.100882A>G (p.Thr33628Ala)
c.100315A>G (p.Thr33439Ala)
c.97657A>G (p.Thr32553Ala)
c.97576A>G (p.Thr32526Ala)
c.79339A>G (p.Thr26447Ala)
c.69193A>G (p.Thr23065Ala)
 dbSNP gnomAD v2 gnomAD v4
2g.178530047T>GCA349405239TTN,TTN-AS1c.98740A>C (p.Thr32914Pro)
c.79825A>C (p.Thr26609Pro)
c.79624A>C (p.Thr26542Pro)
c.79249A>C (p.Thr26417Pro)
c.106444A>C (p.Thr35482Pro)
c.101521A>C (p.Thr33841Pro)
n.446+6411T>G
n.220-5685T>G
c.105541A>C (p.Thr35181Pro)
c.79435A>C (p.Thr26479Pro)
c.79294A>C (p.Thr26432Pro)
c.105337A>C (p.Thr35113Pro)
c.100735A>C (p.Thr33579Pro)
c.100732A>C (p.Thr33578Pro)
c.97774A>C (p.Thr32592Pro)
c.79390A>C (p.Thr26464Pro)
c.100885A>C (p.Thr33629Pro)
c.100882A>C (p.Thr33628Pro)
c.100315A>C (p.Thr33439Pro)
c.97657A>C (p.Thr32553Pro)
c.97576A>C (p.Thr32526Pro)
c.79339A>C (p.Thr26447Pro)
c.69193A>C (p.Thr23065Pro)
2g.178530047T=CA1310511380TTN,TTN-AS1c.98740A= (p.Thr32914=)
c.79825A= (p.Thr26609=)
c.79624A= (p.Thr26542=)
c.79249A= (p.Thr26417=)
c.106444A= (p.Thr35482=)
c.101521A= (p.Thr33841=)
n.446+6411T=
n.220-5685T=
c.105541A= (p.Thr35181=)
c.79435A= (p.Thr26479=)
c.79294A= (p.Thr26432=)
c.105337A= (p.Thr35113=)
c.100735A= (p.Thr33579=)
c.100732A= (p.Thr33578=)
c.97774A= (p.Thr32592=)
c.79390A= (p.Thr26464=)
c.100885A= (p.Thr33629=)
c.100882A= (p.Thr33628=)
c.100315A= (p.Thr33439=)
c.97657A= (p.Thr32553=)
c.97576A= (p.Thr32526=)
c.79339A= (p.Thr26447=)
c.69193A= (p.Thr23065=)
2g.178530048C>ACA349405240TTN,TTN-AS1c.98739G>T (p.Lys32913Asn)
c.79824G>T (p.Lys26608Asn)
c.79623G>T (p.Lys26541Asn)
c.79248G>T (p.Lys26416Asn)
c.106443G>T (p.Lys35481Asn)
c.101520G>T (p.Lys33840Asn)
n.446+6412C>A
n.220-5684C>A
c.105540G>T (p.Lys35180Asn)
c.79434G>T (p.Lys26478Asn)
c.79293G>T (p.Lys26431Asn)
c.105336G>T (p.Lys35112Asn)
c.100734G>T (p.Lys33578Asn)
c.100731G>T (p.Lys33577Asn)
c.97773G>T (p.Lys32591Asn)
c.79389G>T (p.Lys26463Asn)
c.100884G>T (p.Lys33628Asn)
c.100881G>T (p.Lys33627Asn)
c.100314G>T (p.Lys33438Asn)
c.97656G>T (p.Lys32552Asn)
c.97575G>T (p.Lys32525Asn)
c.79338G>T (p.Lys26446Asn)
c.69192G>T (p.Lys23064Asn)
2g.178530048C>GCA349405242TTN,TTN-AS1c.98739G>C (p.Lys32913Asn)
c.79824G>C (p.Lys26608Asn)
c.79623G>C (p.Lys26541Asn)
c.79248G>C (p.Lys26416Asn)
c.106443G>C (p.Lys35481Asn)
c.101520G>C (p.Lys33840Asn)
n.446+6412C>G
n.220-5684C>G
c.105540G>C (p.Lys35180Asn)
c.79434G>C (p.Lys26478Asn)
c.79293G>C (p.Lys26431Asn)
c.105336G>C (p.Lys35112Asn)
c.100734G>C (p.Lys33578Asn)
c.100731G>C (p.Lys33577Asn)
c.97773G>C (p.Lys32591Asn)
c.79389G>C (p.Lys26463Asn)
c.100884G>C (p.Lys33628Asn)
c.100881G>C (p.Lys33627Asn)
c.100314G>C (p.Lys33438Asn)
c.97656G>C (p.Lys32552Asn)
c.97575G>C (p.Lys32525Asn)
c.79338G>C (p.Lys26446Asn)
c.69192G>C (p.Lys23064Asn)
2g.178530048C>TCA430093874TTN,TTN-AS1c.98739G>A (p.Lys32913=)
c.79824G>A (p.Lys26608=)
c.79623G>A (p.Lys26541=)
c.79248G>A (p.Lys26416=)
c.106443G>A (p.Lys35481=)
c.101520G>A (p.Lys33840=)
n.446+6412C>T
n.220-5684C>T
c.105540G>A (p.Lys35180=)
c.79434G>A (p.Lys26478=)
c.79293G>A (p.Lys26431=)
c.105336G>A (p.Lys35112=)
c.100734G>A (p.Lys33578=)
c.100731G>A (p.Lys33577=)
c.97773G>A (p.Lys32591=)
c.79389G>A (p.Lys26463=)
c.100884G>A (p.Lys33628=)
c.100881G>A (p.Lys33627=)
c.100314G>A (p.Lys33438=)
c.97656G>A (p.Lys32552=)
c.97575G>A (p.Lys32525=)
c.79338G>A (p.Lys26446=)
c.69192G>A (p.Lys23064=)
2g.178530049T>ACA349405245TTN,TTN-AS1c.98738A>T (p.Lys32913Met)
c.79823A>T (p.Lys26608Met)
c.79622A>T (p.Lys26541Met)
c.79247A>T (p.Lys26416Met)
c.106442A>T (p.Lys35481Met)
c.101519A>T (p.Lys33840Met)
n.446+6413T>A
n.220-5683T>A
c.105539A>T (p.Lys35180Met)
c.79433A>T (p.Lys26478Met)
c.79292A>T (p.Lys26431Met)
c.105335A>T (p.Lys35112Met)
c.100733A>T (p.Lys33578Met)
c.100730A>T (p.Lys33577Met)
c.97772A>T (p.Lys32591Met)
c.79388A>T (p.Lys26463Met)
c.100883A>T (p.Lys33628Met)
c.100880A>T (p.Lys33627Met)
c.100313A>T (p.Lys33438Met)
c.97655A>T (p.Lys32552Met)
c.97574A>T (p.Lys32525Met)
c.79337A>T (p.Lys26446Met)
c.69191A>T (p.Lys23064Met)
2g.178530049T>CCA1985103TTN,TTN-AS1c.98738A>G (p.Lys32913Arg)
c.79823A>G (p.Lys26608Arg)
c.79622A>G (p.Lys26541Arg)
c.79247A>G (p.Lys26416Arg)
c.106442A>G (p.Lys35481Arg)
c.101519A>G (p.Lys33840Arg)
n.446+6413T>C
n.220-5683T>C
c.105539A>G (p.Lys35180Arg)
c.79433A>G (p.Lys26478Arg)
c.79292A>G (p.Lys26431Arg)
c.105335A>G (p.Lys35112Arg)
c.100733A>G (p.Lys33578Arg)
c.100730A>G (p.Lys33577Arg)
c.97772A>G (p.Lys32591Arg)
c.79388A>G (p.Lys26463Arg)
c.100883A>G (p.Lys33628Arg)
c.100880A>G (p.Lys33627Arg)
c.100313A>G (p.Lys33438Arg)
c.97655A>G (p.Lys32552Arg)
c.97574A>G (p.Lys32525Arg)
c.79337A>G (p.Lys26446Arg)
c.69191A>G (p.Lys23064Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178530049T>GCA349405246TTN,TTN-AS1c.98738A>C (p.Lys32913Thr)
c.79823A>C (p.Lys26608Thr)
c.79622A>C (p.Lys26541Thr)
c.79247A>C (p.Lys26416Thr)
c.106442A>C (p.Lys35481Thr)
c.101519A>C (p.Lys33840Thr)
n.446+6413T>G
n.220-5683T>G
c.105539A>C (p.Lys35180Thr)
c.79433A>C (p.Lys26478Thr)
c.79292A>C (p.Lys26431Thr)
c.105335A>C (p.Lys35112Thr)
c.100733A>C (p.Lys33578Thr)
c.100730A>C (p.Lys33577Thr)
c.97772A>C (p.Lys32591Thr)
c.79388A>C (p.Lys26463Thr)
c.100883A>C (p.Lys33628Thr)
c.100880A>C (p.Lys33627Thr)
c.100313A>C (p.Lys33438Thr)
c.97655A>C (p.Lys32552Thr)
c.97574A>C (p.Lys32525Thr)
c.79337A>C (p.Lys26446Thr)
c.69191A>C (p.Lys23064Thr)
2g.178530049T=CA1310511384TTN,TTN-AS1c.98738A= (p.Lys32913=)
c.79823A= (p.Lys26608=)
c.79622A= (p.Lys26541=)
c.79247A= (p.Lys26416=)
c.106442A= (p.Lys35481=)
c.101519A= (p.Lys33840=)
n.446+6413T=
n.220-5683T=
c.105539A= (p.Lys35180=)
c.79433A= (p.Lys26478=)
c.79292A= (p.Lys26431=)
c.105335A= (p.Lys35112=)
c.100733A= (p.Lys33578=)
c.100730A= (p.Lys33577=)
c.97772A= (p.Lys32591=)
c.79388A= (p.Lys26463=)
c.100883A= (p.Lys33628=)
c.100880A= (p.Lys33627=)
c.100313A= (p.Lys33438=)
c.97655A= (p.Lys32552=)
c.97574A= (p.Lys32525=)
c.79337A= (p.Lys26446=)
c.69191A= (p.Lys23064=)
2g.178530050T>ACA349405247TTN,TTN-AS1c.98737A>T (p.Lys32913Ter)
c.79822A>T (p.Lys26608Ter)
c.79621A>T (p.Lys26541Ter)
c.79246A>T (p.Lys26416Ter)
c.106441A>T (p.Lys35481Ter)
c.101518A>T (p.Lys33840Ter)
n.446+6414T>A
n.220-5682T>A
c.105538A>T (p.Lys35180Ter)
c.79432A>T (p.Lys26478Ter)
c.79291A>T (p.Lys26431Ter)
c.105334A>T (p.Lys35112Ter)
c.100732A>T (p.Lys33578Ter)
c.100729A>T (p.Lys33577Ter)
c.97771A>T (p.Lys32591Ter)
c.79387A>T (p.Lys26463Ter)
c.100882A>T (p.Lys33628Ter)
c.100879A>T (p.Lys33627Ter)
c.100312A>T (p.Lys33438Ter)
c.97654A>T (p.Lys32552Ter)
c.97573A>T (p.Lys32525Ter)
c.79336A>T (p.Lys26446Ter)
c.69190A>T (p.Lys23064Ter)
2g.178530050T>CCA349405248TTN,TTN-AS1c.98737A>G (p.Lys32913Glu)
c.79822A>G (p.Lys26608Glu)
c.79621A>G (p.Lys26541Glu)
c.79246A>G (p.Lys26416Glu)
c.106441A>G (p.Lys35481Glu)
c.101518A>G (p.Lys33840Glu)
n.446+6414T>C
n.220-5682T>C
c.105538A>G (p.Lys35180Glu)
c.79432A>G (p.Lys26478Glu)
c.79291A>G (p.Lys26431Glu)
c.105334A>G (p.Lys35112Glu)
c.100732A>G (p.Lys33578Glu)
c.100729A>G (p.Lys33577Glu)
c.97771A>G (p.Lys32591Glu)
c.79387A>G (p.Lys26463Glu)
c.100882A>G (p.Lys33628Glu)
c.100879A>G (p.Lys33627Glu)
c.100312A>G (p.Lys33438Glu)
c.97654A>G (p.Lys32552Glu)
c.97573A>G (p.Lys32525Glu)
c.79336A>G (p.Lys26446Glu)
c.69190A>G (p.Lys23064Glu)
2g.178530050T>GCA349405250TTN,TTN-AS1c.98737A>C (p.Lys32913Gln)
c.79822A>C (p.Lys26608Gln)
c.79621A>C (p.Lys26541Gln)
c.79246A>C (p.Lys26416Gln)
c.106441A>C (p.Lys35481Gln)
c.101518A>C (p.Lys33840Gln)
n.446+6414T>G
n.220-5682T>G
c.105538A>C (p.Lys35180Gln)
c.79432A>C (p.Lys26478Gln)
c.79291A>C (p.Lys26431Gln)
c.105334A>C (p.Lys35112Gln)
c.100732A>C (p.Lys33578Gln)
c.100729A>C (p.Lys33577Gln)
c.97771A>C (p.Lys32591Gln)
c.79387A>C (p.Lys26463Gln)
c.100882A>C (p.Lys33628Gln)
c.100879A>C (p.Lys33627Gln)
c.100312A>C (p.Lys33438Gln)
c.97654A>C (p.Lys32552Gln)
c.97573A>C (p.Lys32525Gln)
c.79336A>C (p.Lys26446Gln)
c.69190A>C (p.Lys23064Gln)
2g.178530051A>CCA349405252TTN,TTN-AS1c.98736T>G (p.His32912Gln)
c.79821T>G (p.His26607Gln)
c.79620T>G (p.His26540Gln)
c.79245T>G (p.His26415Gln)
c.106440T>G (p.His35480Gln)
c.101517T>G (p.His33839Gln)
n.446+6415A>C
n.220-5681A>C
c.105537T>G (p.His35179Gln)
c.79431T>G (p.His26477Gln)
c.79290T>G (p.His26430Gln)
c.105333T>G (p.His35111Gln)
c.100731T>G (p.His33577Gln)
c.100728T>G (p.His33576Gln)
c.97770T>G (p.His32590Gln)
c.79386T>G (p.His26462Gln)
c.100881T>G (p.His33627Gln)
c.100878T>G (p.His33626Gln)
c.100311T>G (p.His33437Gln)
c.97653T>G (p.His32551Gln)
c.97572T>G (p.His32524Gln)
c.79335T>G (p.His26445Gln)
c.69189T>G (p.His23063Gln)
2g.178530051A>GCA430093882TTN,TTN-AS1c.98736T>C (p.His32912=)
c.79821T>C (p.His26607=)
c.79620T>C (p.His26540=)
c.79245T>C (p.His26415=)
c.106440T>C (p.His35480=)
c.101517T>C (p.His33839=)
n.446+6415A>G
n.220-5681A>G
c.105537T>C (p.His35179=)
c.79431T>C (p.His26477=)
c.79290T>C (p.His26430=)
c.105333T>C (p.His35111=)
c.100731T>C (p.His33577=)
c.100728T>C (p.His33576=)
c.97770T>C (p.His32590=)
c.79386T>C (p.His26462=)
c.100881T>C (p.His33627=)
c.100878T>C (p.His33626=)
c.100311T>C (p.His33437=)
c.97653T>C (p.His32551=)
c.97572T>C (p.His32524=)
c.79335T>C (p.His26445=)
c.69189T>C (p.His23063=)
2g.178530051A>TCA349405254TTN,TTN-AS1c.98736T>A (p.His32912Gln)
c.79821T>A (p.His26607Gln)
c.79620T>A (p.His26540Gln)
c.79245T>A (p.His26415Gln)
c.106440T>A (p.His35480Gln)
c.101517T>A (p.His33839Gln)
n.446+6415A>T
n.220-5681A>T
c.105537T>A (p.His35179Gln)
c.79431T>A (p.His26477Gln)
c.79290T>A (p.His26430Gln)
c.105333T>A (p.His35111Gln)
c.100731T>A (p.His33577Gln)
c.100728T>A (p.His33576Gln)
c.97770T>A (p.His32590Gln)
c.79386T>A (p.His26462Gln)
c.100881T>A (p.His33627Gln)
c.100878T>A (p.His33626Gln)
c.100311T>A (p.His33437Gln)
c.97653T>A (p.His32551Gln)
c.97572T>A (p.His32524Gln)
c.79335T>A (p.His26445Gln)
c.69189T>A (p.His23063Gln)
2g.178530052T>ACA349405257TTN,TTN-AS1c.98735A>T (p.His32912Leu)
c.79820A>T (p.His26607Leu)
c.79619A>T (p.His26540Leu)
c.79244A>T (p.His26415Leu)
c.106439A>T (p.His35480Leu)
c.101516A>T (p.His33839Leu)
n.446+6416T>A
n.220-5680T>A
c.105536A>T (p.His35179Leu)
c.79430A>T (p.His26477Leu)
c.79289A>T (p.His26430Leu)
c.105332A>T (p.His35111Leu)
c.100730A>T (p.His33577Leu)
c.100727A>T (p.His33576Leu)
c.97769A>T (p.His32590Leu)
c.79385A>T (p.His26462Leu)
c.100880A>T (p.His33627Leu)
c.100877A>T (p.His33626Leu)
c.100310A>T (p.His33437Leu)
c.97652A>T (p.His32551Leu)
c.97571A>T (p.His32524Leu)
c.79334A>T (p.His26445Leu)
c.69188A>T (p.His23063Leu)
2g.178530052T>CCA60953022TTN,TTN-AS1c.98735A>G (p.His32912Arg)
c.79820A>G (p.His26607Arg)
c.79619A>G (p.His26540Arg)
c.79244A>G (p.His26415Arg)
c.106439A>G (p.His35480Arg)
c.101516A>G (p.His33839Arg)
n.446+6416T>C
n.220-5680T>C
c.105536A>G (p.His35179Arg)
c.79430A>G (p.His26477Arg)
c.79289A>G (p.His26430Arg)
c.105332A>G (p.His35111Arg)
c.100730A>G (p.His33577Arg)
c.100727A>G (p.His33576Arg)
c.97769A>G (p.His32590Arg)
c.79385A>G (p.His26462Arg)
c.100880A>G (p.His33627Arg)
c.100877A>G (p.His33626Arg)
c.100310A>G (p.His33437Arg)
c.97652A>G (p.His32551Arg)
c.97571A>G (p.His32524Arg)
c.79334A>G (p.His26445Arg)
c.69188A>G (p.His23063Arg)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.178530052T>GCA349405256TTN,TTN-AS1c.98735A>C (p.His32912Pro)
c.79820A>C (p.His26607Pro)
c.79619A>C (p.His26540Pro)
c.79244A>C (p.His26415Pro)
c.106439A>C (p.His35480Pro)
c.101516A>C (p.His33839Pro)
n.446+6416T>G
n.220-5680T>G
c.105536A>C (p.His35179Pro)
c.79430A>C (p.His26477Pro)
c.79289A>C (p.His26430Pro)
c.105332A>C (p.His35111Pro)
c.100730A>C (p.His33577Pro)
c.100727A>C (p.His33576Pro)
c.97769A>C (p.His32590Pro)
c.79385A>C (p.His26462Pro)
c.100880A>C (p.His33627Pro)
c.100877A>C (p.His33626Pro)
c.100310A>C (p.His33437Pro)
c.97652A>C (p.His32551Pro)
c.97571A>C (p.His32524Pro)
c.79334A>C (p.His26445Pro)
c.69188A>C (p.His23063Pro)
 ClinVar gnomAD v4
2g.178530052T=CA1310511391TTN,TTN-AS1c.98735A= (p.His32912=)
c.79820A= (p.His26607=)
c.79619A= (p.His26540=)
c.79244A= (p.His26415=)
c.106439A= (p.His35480=)
c.101516A= (p.His33839=)
n.446+6416T=
n.220-5680T=
c.105536A= (p.His35179=)
c.79430A= (p.His26477=)
c.79289A= (p.His26430=)
c.105332A= (p.His35111=)
c.100730A= (p.His33577=)
c.100727A= (p.His33576=)
c.97769A= (p.His32590=)
c.79385A= (p.His26462=)
c.100880A= (p.His33627=)
c.100877A= (p.His33626=)
c.100310A= (p.His33437=)
c.97652A= (p.His32551=)
c.97571A= (p.His32524=)
c.79334A= (p.His26445=)
c.69188A= (p.His23063=)
2g.178530053G>ACA349405262TTN,TTN-AS1c.98734C>T (p.His32912Tyr)
c.79819C>T (p.His26607Tyr)
c.79618C>T (p.His26540Tyr)
c.79243C>T (p.His26415Tyr)
c.106438C>T (p.His35480Tyr)
c.101515C>T (p.His33839Tyr)
n.446+6417G>A
n.220-5679G>A
c.105535C>T (p.His35179Tyr)
c.79429C>T (p.His26477Tyr)
c.79288C>T (p.His26430Tyr)
c.105331C>T (p.His35111Tyr)
c.100729C>T (p.His33577Tyr)
c.100726C>T (p.His33576Tyr)
c.97768C>T (p.His32590Tyr)
c.79384C>T (p.His26462Tyr)
c.100879C>T (p.His33627Tyr)
c.100876C>T (p.His33626Tyr)
c.100309C>T (p.His33437Tyr)
c.97651C>T (p.His32551Tyr)
c.97570C>T (p.His32524Tyr)
c.79333C>T (p.His26445Tyr)
c.69187C>T (p.His23063Tyr)
2g.178530053G>CCA349405260TTN,TTN-AS1c.98734C>G (p.His32912Asp)
c.79819C>G (p.His26607Asp)
c.79618C>G (p.His26540Asp)
c.79243C>G (p.His26415Asp)
c.106438C>G (p.His35480Asp)
c.101515C>G (p.His33839Asp)
n.446+6417G>C
n.220-5679G>C
c.105535C>G (p.His35179Asp)
c.79429C>G (p.His26477Asp)
c.79288C>G (p.His26430Asp)
c.105331C>G (p.His35111Asp)
c.100729C>G (p.His33577Asp)
c.100726C>G (p.His33576Asp)
c.97768C>G (p.His32590Asp)
c.79384C>G (p.His26462Asp)
c.100879C>G (p.His33627Asp)
c.100876C>G (p.His33626Asp)
c.100309C>G (p.His33437Asp)
c.97651C>G (p.His32551Asp)
c.97570C>G (p.His32524Asp)
c.79333C>G (p.His26445Asp)
c.69187C>G (p.His23063Asp)
 dbSNP gnomAD v2
2g.178530053G=CA1310511396TTN,TTN-AS1c.98734C= (p.His32912=)
c.79819C= (p.His26607=)
c.79618C= (p.His26540=)
c.79243C= (p.His26415=)
c.106438C= (p.His35480=)
c.101515C= (p.His33839=)
n.446+6417G=
n.220-5679G=
c.105535C= (p.His35179=)
c.79429C= (p.His26477=)
c.79288C= (p.His26430=)
c.105331C= (p.His35111=)
c.100729C= (p.His33577=)
c.100726C= (p.His33576=)
c.97768C= (p.His32590=)
c.79384C= (p.His26462=)
c.100879C= (p.His33627=)
c.100876C= (p.His33626=)
c.100309C= (p.His33437=)
c.97651C= (p.His32551=)
c.97570C= (p.His32524=)
c.79333C= (p.His26445=)
c.69187C= (p.His23063=)
2g.178530053G>TCA349405265TTN,TTN-AS1c.98734C>A (p.His32912Asn)
c.79819C>A (p.His26607Asn)
c.79618C>A (p.His26540Asn)
c.79243C>A (p.His26415Asn)
c.106438C>A (p.His35480Asn)
c.101515C>A (p.His33839Asn)
n.446+6417G>T
n.220-5679G>T
c.105535C>A (p.His35179Asn)
c.79429C>A (p.His26477Asn)
c.79288C>A (p.His26430Asn)
c.105331C>A (p.His35111Asn)
c.100729C>A (p.His33577Asn)
c.100726C>A (p.His33576Asn)
c.97768C>A (p.His32590Asn)
c.79384C>A (p.His26462Asn)
c.100879C>A (p.His33627Asn)
c.100876C>A (p.His33626Asn)
c.100309C>A (p.His33437Asn)
c.97651C>A (p.His32551Asn)
c.97570C>A (p.His32524Asn)
c.79333C>A (p.His26445Asn)
c.69187C>A (p.His23063Asn)
2g.178530054A>CCA349405268TTN,TTN-AS1c.98733T>G (p.Ile32911Met)
c.79818T>G (p.Ile26606Met)
c.79617T>G (p.Ile26539Met)
c.79242T>G (p.Ile26414Met)
c.106437T>G (p.Ile35479Met)
c.101514T>G (p.Ile33838Met)
n.446+6418A>C
n.220-5678A>C
c.105534T>G (p.Ile35178Met)
c.79428T>G (p.Ile26476Met)
c.79287T>G (p.Ile26429Met)
c.105330T>G (p.Ile35110Met)
c.100728T>G (p.Ile33576Met)
c.100725T>G (p.Ile33575Met)
c.97767T>G (p.Ile32589Met)
c.79383T>G (p.Ile26461Met)
c.100878T>G (p.Ile33626Met)
c.100875T>G (p.Ile33625Met)
c.100308T>G (p.Ile33436Met)
c.97650T>G (p.Ile32550Met)
c.97569T>G (p.Ile32523Met)
c.79332T>G (p.Ile26444Met)
c.69186T>G (p.Ile23062Met)
2g.178530054A>GCA430093891TTN,TTN-AS1c.98733T>C (p.Ile32911=)
c.79818T>C (p.Ile26606=)
c.79617T>C (p.Ile26539=)
c.79242T>C (p.Ile26414=)
c.106437T>C (p.Ile35479=)
c.101514T>C (p.Ile33838=)
n.446+6418A>G
n.220-5678A>G
c.105534T>C (p.Ile35178=)
c.79428T>C (p.Ile26476=)
c.79287T>C (p.Ile26429=)
c.105330T>C (p.Ile35110=)
c.100728T>C (p.Ile33576=)
c.100725T>C (p.Ile33575=)
c.97767T>C (p.Ile32589=)
c.79383T>C (p.Ile26461=)
c.100878T>C (p.Ile33626=)
c.100875T>C (p.Ile33625=)
c.100308T>C (p.Ile33436=)
c.97650T>C (p.Ile32550=)
c.97569T>C (p.Ile32523=)
c.79332T>C (p.Ile26444=)
c.69186T>C (p.Ile23062=)
2g.178530054A>TCA430093892TTN,TTN-AS1c.98733T>A (p.Ile32911=)
c.79818T>A (p.Ile26606=)
c.79617T>A (p.Ile26539=)
c.79242T>A (p.Ile26414=)
c.106437T>A (p.Ile35479=)
c.101514T>A (p.Ile33838=)
n.446+6418A>T
n.220-5678A>T
c.105534T>A (p.Ile35178=)
c.79428T>A (p.Ile26476=)
c.79287T>A (p.Ile26429=)
c.105330T>A (p.Ile35110=)
c.100728T>A (p.Ile33576=)
c.100725T>A (p.Ile33575=)
c.97767T>A (p.Ile32589=)
c.79383T>A (p.Ile26461=)
c.100878T>A (p.Ile33626=)
c.100875T>A (p.Ile33625=)
c.100308T>A (p.Ile33436=)
c.97650T>A (p.Ile32550=)
c.97569T>A (p.Ile32523=)
c.79332T>A (p.Ile26444=)
c.69186T>A (p.Ile23062=)
2g.178530055A>CCA349405275TTN,TTN-AS1c.98732T>G (p.Ile32911Ser)
c.79817T>G (p.Ile26606Ser)
c.79616T>G (p.Ile26539Ser)
c.79241T>G (p.Ile26414Ser)
c.106436T>G (p.Ile35479Ser)
c.101513T>G (p.Ile33838Ser)
n.446+6419A>C
n.220-5677A>C
c.105533T>G (p.Ile35178Ser)
c.79427T>G (p.Ile26476Ser)
c.79286T>G (p.Ile26429Ser)
c.105329T>G (p.Ile35110Ser)
c.100727T>G (p.Ile33576Ser)
c.100724T>G (p.Ile33575Ser)
c.97766T>G (p.Ile32589Ser)
c.79382T>G (p.Ile26461Ser)
c.100877T>G (p.Ile33626Ser)
c.100874T>G (p.Ile33625Ser)
c.100307T>G (p.Ile33436Ser)
c.97649T>G (p.Ile32550Ser)
c.97568T>G (p.Ile32523Ser)
c.79331T>G (p.Ile26444Ser)
c.69185T>G (p.Ile23062Ser)
 COSMIC COSMIC COSMIC COSMIC
2g.178530055A>GCA349405270TTN,TTN-AS1c.98732T>C (p.Ile32911Thr)
c.79817T>C (p.Ile26606Thr)
c.79616T>C (p.Ile26539Thr)
c.79241T>C (p.Ile26414Thr)
c.106436T>C (p.Ile35479Thr)
c.101513T>C (p.Ile33838Thr)
n.446+6419A>G
n.220-5677A>G
c.105533T>C (p.Ile35178Thr)
c.79427T>C (p.Ile26476Thr)
c.79286T>C (p.Ile26429Thr)
c.105329T>C (p.Ile35110Thr)
c.100727T>C (p.Ile33576Thr)
c.100724T>C (p.Ile33575Thr)
c.97766T>C (p.Ile32589Thr)
c.79382T>C (p.Ile26461Thr)
c.100877T>C (p.Ile33626Thr)
c.100874T>C (p.Ile33625Thr)
c.100307T>C (p.Ile33436Thr)
c.97649T>C (p.Ile32550Thr)
c.97568T>C (p.Ile32523Thr)
c.79331T>C (p.Ile26444Thr)
c.69185T>C (p.Ile23062Thr)
2g.178530055A>TCA349405273TTN,TTN-AS1c.98732T>A (p.Ile32911Asn)
c.79817T>A (p.Ile26606Asn)
c.79616T>A (p.Ile26539Asn)
c.79241T>A (p.Ile26414Asn)
c.106436T>A (p.Ile35479Asn)
c.101513T>A (p.Ile33838Asn)
n.446+6419A>T
n.220-5677A>T
c.105533T>A (p.Ile35178Asn)
c.79427T>A (p.Ile26476Asn)
c.79286T>A (p.Ile26429Asn)
c.105329T>A (p.Ile35110Asn)
c.100727T>A (p.Ile33576Asn)
c.100724T>A (p.Ile33575Asn)
c.97766T>A (p.Ile32589Asn)
c.79382T>A (p.Ile26461Asn)
c.100877T>A (p.Ile33626Asn)
c.100874T>A (p.Ile33625Asn)
c.100307T>A (p.Ile33436Asn)
c.97649T>A (p.Ile32550Asn)
c.97568T>A (p.Ile32523Asn)
c.79331T>A (p.Ile26444Asn)
c.69185T>A (p.Ile23062Asn)
2g.178530056T>ACA349405278TTN,TTN-AS1c.98731A>T (p.Ile32911Phe)
c.79816A>T (p.Ile26606Phe)
c.79615A>T (p.Ile26539Phe)
c.79240A>T (p.Ile26414Phe)
c.106435A>T (p.Ile35479Phe)
c.101512A>T (p.Ile33838Phe)
n.446+6420T>A
n.220-5676T>A
c.105532A>T (p.Ile35178Phe)
c.79426A>T (p.Ile26476Phe)
c.79285A>T (p.Ile26429Phe)
c.105328A>T (p.Ile35110Phe)
c.100726A>T (p.Ile33576Phe)
c.100723A>T (p.Ile33575Phe)
c.97765A>T (p.Ile32589Phe)
c.79381A>T (p.Ile26461Phe)
c.100876A>T (p.Ile33626Phe)
c.100873A>T (p.Ile33625Phe)
c.100306A>T (p.Ile33436Phe)
c.97648A>T (p.Ile32550Phe)
c.97567A>T (p.Ile32523Phe)
c.79330A>T (p.Ile26444Phe)
c.69184A>T (p.Ile23062Phe)
2g.178530056T>CCA349405280TTN,TTN-AS1c.98731A>G (p.Ile32911Val)
c.79816A>G (p.Ile26606Val)
c.79615A>G (p.Ile26539Val)
c.79240A>G (p.Ile26414Val)
c.106435A>G (p.Ile35479Val)
c.101512A>G (p.Ile33838Val)
n.446+6420T>C
n.220-5676T>C
c.105532A>G (p.Ile35178Val)
c.79426A>G (p.Ile26476Val)
c.79285A>G (p.Ile26429Val)
c.105328A>G (p.Ile35110Val)
c.100726A>G (p.Ile33576Val)
c.100723A>G (p.Ile33575Val)
c.97765A>G (p.Ile32589Val)
c.79381A>G (p.Ile26461Val)
c.100876A>G (p.Ile33626Val)
c.100873A>G (p.Ile33625Val)
c.100306A>G (p.Ile33436Val)
c.97648A>G (p.Ile32550Val)
c.97567A>G (p.Ile32523Val)
c.79330A>G (p.Ile26444Val)
c.69184A>G (p.Ile23062Val)
2g.178530056T>GCA349405283TTN,TTN-AS1c.98731A>C (p.Ile32911Leu)
c.79816A>C (p.Ile26606Leu)
c.79615A>C (p.Ile26539Leu)
c.79240A>C (p.Ile26414Leu)
c.106435A>C (p.Ile35479Leu)
c.101512A>C (p.Ile33838Leu)
n.446+6420T>G
n.220-5676T>G
c.105532A>C (p.Ile35178Leu)
c.79426A>C (p.Ile26476Leu)
c.79285A>C (p.Ile26429Leu)
c.105328A>C (p.Ile35110Leu)
c.100726A>C (p.Ile33576Leu)
c.100723A>C (p.Ile33575Leu)
c.97765A>C (p.Ile32589Leu)
c.79381A>C (p.Ile26461Leu)
c.100876A>C (p.Ile33626Leu)
c.100873A>C (p.Ile33625Leu)
c.100306A>C (p.Ile33436Leu)
c.97648A>C (p.Ile32550Leu)
c.97567A>C (p.Ile32523Leu)
c.79330A>C (p.Ile26444Leu)
c.69184A>C (p.Ile23062Leu)
2g.178530057T>ACA349405286TTN,TTN-AS1c.98730A>T (p.Glu32910Asp)
c.79815A>T (p.Glu26605Asp)
c.79614A>T (p.Glu26538Asp)
c.79239A>T (p.Glu26413Asp)
c.106434A>T (p.Glu35478Asp)
c.101511A>T (p.Glu33837Asp)
n.446+6421T>A
n.220-5675T>A
c.105531A>T (p.Glu35177Asp)
c.79425A>T (p.Glu26475Asp)
c.79284A>T (p.Glu26428Asp)
c.105327A>T (p.Glu35109Asp)
c.100725A>T (p.Glu33575Asp)
c.100722A>T (p.Glu33574Asp)
c.97764A>T (p.Glu32588Asp)
c.79380A>T (p.Glu26460Asp)
c.100875A>T (p.Glu33625Asp)
c.100872A>T (p.Glu33624Asp)
c.100305A>T (p.Glu33435Asp)
c.97647A>T (p.Glu32549Asp)
c.97566A>T (p.Glu32522Asp)
c.79329A>T (p.Glu26443Asp)
c.69183A>T (p.Glu23061Asp)
2g.178530057T>CCA430093900TTN,TTN-AS1c.98730A>G (p.Glu32910=)
c.79815A>G (p.Glu26605=)
c.79614A>G (p.Glu26538=)
c.79239A>G (p.Glu26413=)
c.106434A>G (p.Glu35478=)
c.101511A>G (p.Glu33837=)
n.446+6421T>C
n.220-5675T>C
c.105531A>G (p.Glu35177=)
c.79425A>G (p.Glu26475=)
c.79284A>G (p.Glu26428=)
c.105327A>G (p.Glu35109=)
c.100725A>G (p.Glu33575=)
c.100722A>G (p.Glu33574=)
c.97764A>G (p.Glu32588=)
c.79380A>G (p.Glu26460=)
c.100875A>G (p.Glu33625=)
c.100872A>G (p.Glu33624=)
c.100305A>G (p.Glu33435=)
c.97647A>G (p.Glu32549=)
c.97566A>G (p.Glu32522=)
c.79329A>G (p.Glu26443=)
c.69183A>G (p.Glu23061=)
2g.178530057T>GCA349405287TTN,TTN-AS1c.98730A>C (p.Glu32910Asp)
c.79815A>C (p.Glu26605Asp)
c.79614A>C (p.Glu26538Asp)
c.79239A>C (p.Glu26413Asp)
c.106434A>C (p.Glu35478Asp)
c.101511A>C (p.Glu33837Asp)
n.446+6421T>G
n.220-5675T>G
c.105531A>C (p.Glu35177Asp)
c.79425A>C (p.Glu26475Asp)
c.79284A>C (p.Glu26428Asp)
c.105327A>C (p.Glu35109Asp)
c.100725A>C (p.Glu33575Asp)
c.100722A>C (p.Glu33574Asp)
c.97764A>C (p.Glu32588Asp)
c.79380A>C (p.Glu26460Asp)
c.100875A>C (p.Glu33625Asp)
c.100872A>C (p.Glu33624Asp)
c.100305A>C (p.Glu33435Asp)
c.97647A>C (p.Glu32549Asp)
c.97566A>C (p.Glu32522Asp)
c.79329A>C (p.Glu26443Asp)
c.69183A>C (p.Glu23061Asp)
2g.178530058T>ACA349405291TTN,TTN-AS1c.98729A>T (p.Glu32910Val)
c.79814A>T (p.Glu26605Val)
c.79613A>T (p.Glu26538Val)
c.79238A>T (p.Glu26413Val)
c.106433A>T (p.Glu35478Val)
c.101510A>T (p.Glu33837Val)
n.446+6422T>A
n.220-5674T>A
c.105530A>T (p.Glu35177Val)
c.79424A>T (p.Glu26475Val)
c.79283A>T (p.Glu26428Val)
c.105326A>T (p.Glu35109Val)
c.100724A>T (p.Glu33575Val)
c.100721A>T (p.Glu33574Val)
c.97763A>T (p.Glu32588Val)
c.79379A>T (p.Glu26460Val)
c.100874A>T (p.Glu33625Val)
c.100871A>T (p.Glu33624Val)
c.100304A>T (p.Glu33435Val)
c.97646A>T (p.Glu32549Val)
c.97565A>T (p.Glu32522Val)
c.79328A>T (p.Glu26443Val)
c.69182A>T (p.Glu23061Val)
2g.178530058T>CCA349405292TTN,TTN-AS1c.98729A>G (p.Glu32910Gly)
c.79814A>G (p.Glu26605Gly)
c.79613A>G (p.Glu26538Gly)
c.79238A>G (p.Glu26413Gly)
c.106433A>G (p.Glu35478Gly)
c.101510A>G (p.Glu33837Gly)
n.446+6422T>C
n.220-5674T>C
c.105530A>G (p.Glu35177Gly)
c.79424A>G (p.Glu26475Gly)
c.79283A>G (p.Glu26428Gly)
c.105326A>G (p.Glu35109Gly)
c.100724A>G (p.Glu33575Gly)
c.100721A>G (p.Glu33574Gly)
c.97763A>G (p.Glu32588Gly)
c.79379A>G (p.Glu26460Gly)
c.100874A>G (p.Glu33625Gly)
c.100871A>G (p.Glu33624Gly)
c.100304A>G (p.Glu33435Gly)
c.97646A>G (p.Glu32549Gly)
c.97565A>G (p.Glu32522Gly)
c.79328A>G (p.Glu26443Gly)
c.69182A>G (p.Glu23061Gly)
2g.178530058T>GCA349405295TTN,TTN-AS1c.98729A>C (p.Glu32910Ala)
c.79814A>C (p.Glu26605Ala)
c.79613A>C (p.Glu26538Ala)
c.79238A>C (p.Glu26413Ala)
c.106433A>C (p.Glu35478Ala)
c.101510A>C (p.Glu33837Ala)
n.446+6422T>G
n.220-5674T>G
c.105530A>C (p.Glu35177Ala)
c.79424A>C (p.Glu26475Ala)
c.79283A>C (p.Glu26428Ala)
c.105326A>C (p.Glu35109Ala)
c.100724A>C (p.Glu33575Ala)
c.100721A>C (p.Glu33574Ala)
c.97763A>C (p.Glu32588Ala)
c.79379A>C (p.Glu26460Ala)
c.100874A>C (p.Glu33625Ala)
c.100871A>C (p.Glu33624Ala)
c.100304A>C (p.Glu33435Ala)
c.97646A>C (p.Glu32549Ala)
c.97565A>C (p.Glu32522Ala)
c.79328A>C (p.Glu26443Ala)
c.69182A>C (p.Glu23061Ala)
2g.178530059C>ACA349405300TTN,TTN-AS1c.98728G>T (p.Glu32910Ter)
c.79813G>T (p.Glu26605Ter)
c.79612G>T (p.Glu26538Ter)
c.79237G>T (p.Glu26413Ter)
c.106432G>T (p.Glu35478Ter)
c.101509G>T (p.Glu33837Ter)
n.446+6423C>A
n.220-5673C>A
c.105529G>T (p.Glu35177Ter)
c.79423G>T (p.Glu26475Ter)
c.79282G>T (p.Glu26428Ter)
c.105325G>T (p.Glu35109Ter)
c.100723G>T (p.Glu33575Ter)
c.100720G>T (p.Glu33574Ter)
c.97762G>T (p.Glu32588Ter)
c.79378G>T (p.Glu26460Ter)
c.100873G>T (p.Glu33625Ter)
c.100870G>T (p.Glu33624Ter)
c.100303G>T (p.Glu33435Ter)
c.97645G>T (p.Glu32549Ter)
c.97564G>T (p.Glu32522Ter)
c.79327G>T (p.Glu26443Ter)
c.69181G>T (p.Glu23061Ter)
2g.178530059C>GCA349405299TTN,TTN-AS1c.98728G>C (p.Glu32910Gln)
c.79813G>C (p.Glu26605Gln)
c.79612G>C (p.Glu26538Gln)
c.79237G>C (p.Glu26413Gln)
c.106432G>C (p.Glu35478Gln)
c.101509G>C (p.Glu33837Gln)
n.446+6423C>G
n.220-5673C>G
c.105529G>C (p.Glu35177Gln)
c.79423G>C (p.Glu26475Gln)
c.79282G>C (p.Glu26428Gln)
c.105325G>C (p.Glu35109Gln)
c.100723G>C (p.Glu33575Gln)
c.100720G>C (p.Glu33574Gln)
c.97762G>C (p.Glu32588Gln)
c.79378G>C (p.Glu26460Gln)
c.100873G>C (p.Glu33625Gln)
c.100870G>C (p.Glu33624Gln)
c.100303G>C (p.Glu33435Gln)
c.97645G>C (p.Glu32549Gln)
c.97564G>C (p.Glu32522Gln)
c.79327G>C (p.Glu26443Gln)
c.69181G>C (p.Glu23061Gln)
2g.178530059C>TCA349405296TTN,TTN-AS1c.98728G>A (p.Glu32910Lys)
c.79813G>A (p.Glu26605Lys)
c.79612G>A (p.Glu26538Lys)
c.79237G>A (p.Glu26413Lys)
c.106432G>A (p.Glu35478Lys)
c.101509G>A (p.Glu33837Lys)
n.446+6423C>T
n.220-5673C>T
c.105529G>A (p.Glu35177Lys)
c.79423G>A (p.Glu26475Lys)
c.79282G>A (p.Glu26428Lys)
c.105325G>A (p.Glu35109Lys)
c.100723G>A (p.Glu33575Lys)
c.100720G>A (p.Glu33574Lys)
c.97762G>A (p.Glu32588Lys)
c.79378G>A (p.Glu26460Lys)
c.100873G>A (p.Glu33625Lys)
c.100870G>A (p.Glu33624Lys)
c.100303G>A (p.Glu33435Lys)
c.97645G>A (p.Glu32549Lys)
c.97564G>A (p.Glu32522Lys)
c.79327G>A (p.Glu26443Lys)
c.69181G>A (p.Glu23061Lys)
2g.178530060T>ACA349405303TTN,TTN-AS1c.98727A>T (p.Leu32909Phe)
c.79812A>T (p.Leu26604Phe)
c.79611A>T (p.Leu26537Phe)
c.79236A>T (p.Leu26412Phe)
c.106431A>T (p.Leu35477Phe)
c.101508A>T (p.Leu33836Phe)
n.446+6424T>A
n.220-5672T>A
c.105528A>T (p.Leu35176Phe)
c.79422A>T (p.Leu26474Phe)
c.79281A>T (p.Leu26427Phe)
c.105324A>T (p.Leu35108Phe)
c.100722A>T (p.Leu33574Phe)
c.100719A>T (p.Leu33573Phe)
c.97761A>T (p.Leu32587Phe)
c.79377A>T (p.Leu26459Phe)
c.100872A>T (p.Leu33624Phe)
c.100869A>T (p.Leu33623Phe)
c.100302A>T (p.Leu33434Phe)
c.97644A>T (p.Leu32548Phe)
c.97563A>T (p.Leu32521Phe)
c.79326A>T (p.Leu26442Phe)
c.69180A>T (p.Leu23060Phe)
2g.178530060T>CCA430093909TTN,TTN-AS1c.98727A>G (p.Leu32909=)
c.79812A>G (p.Leu26604=)
c.79611A>G (p.Leu26537=)
c.79236A>G (p.Leu26412=)
c.106431A>G (p.Leu35477=)
c.101508A>G (p.Leu33836=)
n.446+6424T>C
n.220-5672T>C
c.105528A>G (p.Leu35176=)
c.79422A>G (p.Leu26474=)
c.79281A>G (p.Leu26427=)
c.105324A>G (p.Leu35108=)
c.100722A>G (p.Leu33574=)
c.100719A>G (p.Leu33573=)
c.97761A>G (p.Leu32587=)
c.79377A>G (p.Leu26459=)
c.100872A>G (p.Leu33624=)
c.100869A>G (p.Leu33623=)
c.100302A>G (p.Leu33434=)
c.97644A>G (p.Leu32548=)
c.97563A>G (p.Leu32521=)
c.79326A>G (p.Leu26442=)
c.69180A>G (p.Leu23060=)
 ClinVar dbSNP
2g.178530060T>GCA349405304TTN,TTN-AS1c.98727A>C (p.Leu32909Phe)
c.79812A>C (p.Leu26604Phe)
c.79611A>C (p.Leu26537Phe)
c.79236A>C (p.Leu26412Phe)
c.106431A>C (p.Leu35477Phe)
c.101508A>C (p.Leu33836Phe)
n.446+6424T>G
n.220-5672T>G
c.105528A>C (p.Leu35176Phe)
c.79422A>C (p.Leu26474Phe)
c.79281A>C (p.Leu26427Phe)
c.105324A>C (p.Leu35108Phe)
c.100722A>C (p.Leu33574Phe)
c.100719A>C (p.Leu33573Phe)
c.97761A>C (p.Leu32587Phe)
c.79377A>C (p.Leu26459Phe)
c.100872A>C (p.Leu33624Phe)
c.100869A>C (p.Leu33623Phe)
c.100302A>C (p.Leu33434Phe)
c.97644A>C (p.Leu32548Phe)
c.97563A>C (p.Leu32521Phe)
c.79326A>C (p.Leu26442Phe)
c.69180A>C (p.Leu23060Phe)
2g.178530061A=CA1310511399TTN,TTN-AS1c.98726T= (p.Leu32909=)
c.79811T= (p.Leu26604=)
c.79610T= (p.Leu26537=)
c.79235T= (p.Leu26412=)
c.106430T= (p.Leu35477=)
c.101507T= (p.Leu33836=)
n.446+6425A=
n.220-5671A=
c.105527T= (p.Leu35176=)
c.79421T= (p.Leu26474=)
c.79280T= (p.Leu26427=)
c.105323T= (p.Leu35108=)
c.100721T= (p.Leu33574=)
c.100718T= (p.Leu33573=)
c.97760T= (p.Leu32587=)
c.79376T= (p.Leu26459=)
c.100871T= (p.Leu33624=)
c.100868T= (p.Leu33623=)
c.100301T= (p.Leu33434=)
c.97643T= (p.Leu32548=)
c.97562T= (p.Leu32521=)
c.79325T= (p.Leu26442=)
c.69179T= (p.Leu23060=)
2g.178530061A>CCA349405307TTN,TTN-AS1c.98726T>G (p.Leu32909Ter)
c.79811T>G (p.Leu26604Ter)
c.79610T>G (p.Leu26537Ter)
c.79235T>G (p.Leu26412Ter)
c.106430T>G (p.Leu35477Ter)
c.101507T>G (p.Leu33836Ter)
n.446+6425A>C
n.220-5671A>C
c.105527T>G (p.Leu35176Ter)
c.79421T>G (p.Leu26474Ter)
c.79280T>G (p.Leu26427Ter)
c.105323T>G (p.Leu35108Ter)
c.100721T>G (p.Leu33574Ter)
c.100718T>G (p.Leu33573Ter)
c.97760T>G (p.Leu32587Ter)
c.79376T>G (p.Leu26459Ter)
c.100871T>G (p.Leu33624Ter)
c.100868T>G (p.Leu33623Ter)
c.100301T>G (p.Leu33434Ter)
c.97643T>G (p.Leu32548Ter)
c.97562T>G (p.Leu32521Ter)
c.79325T>G (p.Leu26442Ter)
c.69179T>G (p.Leu23060Ter)
2g.178530061A>GCA349405308TTN,TTN-AS1c.98726T>C (p.Leu32909Ser)
c.79811T>C (p.Leu26604Ser)
c.79610T>C (p.Leu26537Ser)
c.79235T>C (p.Leu26412Ser)
c.106430T>C (p.Leu35477Ser)
c.101507T>C (p.Leu33836Ser)
n.446+6425A>G
n.220-5671A>G
c.105527T>C (p.Leu35176Ser)
c.79421T>C (p.Leu26474Ser)
c.79280T>C (p.Leu26427Ser)
c.105323T>C (p.Leu35108Ser)
c.100721T>C (p.Leu33574Ser)
c.100718T>C (p.Leu33573Ser)
c.97760T>C (p.Leu32587Ser)
c.79376T>C (p.Leu26459Ser)
c.100871T>C (p.Leu33624Ser)
c.100868T>C (p.Leu33623Ser)
c.100301T>C (p.Leu33434Ser)
c.97643T>C (p.Leu32548Ser)
c.97562T>C (p.Leu32521Ser)
c.79325T>C (p.Leu26442Ser)
c.69179T>C (p.Leu23060Ser)
2g.178530061A>TCA349405310TTN,TTN-AS1c.98726T>A (p.Leu32909Ter)
c.79811T>A (p.Leu26604Ter)
c.79610T>A (p.Leu26537Ter)
c.79235T>A (p.Leu26412Ter)
c.106430T>A (p.Leu35477Ter)
c.101507T>A (p.Leu33836Ter)
n.446+6425A>T
n.220-5671A>T
c.105527T>A (p.Leu35176Ter)
c.79421T>A (p.Leu26474Ter)
c.79280T>A (p.Leu26427Ter)
c.105323T>A (p.Leu35108Ter)
c.100721T>A (p.Leu33574Ter)
c.100718T>A (p.Leu33573Ter)
c.97760T>A (p.Leu32587Ter)
c.79376T>A (p.Leu26459Ter)
c.100871T>A (p.Leu33624Ter)
c.100868T>A (p.Leu33623Ter)
c.100301T>A (p.Leu33434Ter)
c.97643T>A (p.Leu32548Ter)
c.97562T>A (p.Leu32521Ter)
c.79325T>A (p.Leu26442Ter)
c.69179T>A (p.Leu23060Ter)
2g.178530061_178530062insTGCA538090272TTN,TTN-AS1c.98725_98726insCA (p.Leu32909SerfsTer2)
c.79810_79811insCA (p.Leu26604SerfsTer2)
c.79609_79610insCA (p.Leu26537SerfsTer2)
c.79234_79235insCA (p.Leu26412SerfsTer2)
c.106429_106430insCA (p.Leu35477SerfsTer2)
c.101506_101507insCA (p.Leu33836SerfsTer2)
n.446+6425_446+6426insTG
n.220-5671_220-5670insTG
c.105526_105527insCA (p.Leu35176SerfsTer2)
c.79420_79421insCA (p.Leu26474SerfsTer2)
c.79279_79280insCA (p.Leu26427SerfsTer2)
c.105322_105323insCA (p.Leu35108SerfsTer2)
c.100720_100721insCA (p.Leu33574SerfsTer2)
c.100717_100718insCA (p.Leu33573SerfsTer2)
c.97759_97760insCA (p.Leu32587SerfsTer2)
c.79375_79376insCA (p.Leu26459SerfsTer2)
c.100870_100871insCA (p.Leu33624SerfsTer2)
c.100867_100868insCA (p.Leu33623SerfsTer2)
c.100300_100301insCA (p.Leu33434SerfsTer2)
c.97642_97643insCA (p.Leu32548SerfsTer2)
c.97561_97562insCA (p.Leu32521SerfsTer2)
c.79324_79325insCA (p.Leu26442SerfsTer2)
c.69178_69179insCA (p.Leu23060SerfsTer2)
 dbSNP gnomAD v2
2g.178530062A>CCA349405312TTN,TTN-AS1c.98725T>G (p.Leu32909Val)
c.79810T>G (p.Leu26604Val)
c.79609T>G (p.Leu26537Val)
c.79234T>G (p.Leu26412Val)
c.106429T>G (p.Leu35477Val)
c.101506T>G (p.Leu33836Val)
n.446+6426A>C
n.220-5670A>C
c.105526T>G (p.Leu35176Val)
c.79420T>G (p.Leu26474Val)
c.79279T>G (p.Leu26427Val)
c.105322T>G (p.Leu35108Val)
c.100720T>G (p.Leu33574Val)
c.100717T>G (p.Leu33573Val)
c.97759T>G (p.Leu32587Val)
c.79375T>G (p.Leu26459Val)
c.100870T>G (p.Leu33624Val)
c.100867T>G (p.Leu33623Val)
c.100300T>G (p.Leu33434Val)
c.97642T>G (p.Leu32548Val)
c.97561T>G (p.Leu32521Val)
c.79324T>G (p.Leu26442Val)
c.69178T>G (p.Leu23060Val)
2g.178530062A>GCA430093916TTN,TTN-AS1c.98725T>C (p.Leu32909=)
c.79810T>C (p.Leu26604=)
c.79609T>C (p.Leu26537=)
c.79234T>C (p.Leu26412=)
c.106429T>C (p.Leu35477=)
c.101506T>C (p.Leu33836=)
n.446+6426A>G
n.220-5670A>G
c.105526T>C (p.Leu35176=)
c.79420T>C (p.Leu26474=)
c.79279T>C (p.Leu26427=)
c.105322T>C (p.Leu35108=)
c.100720T>C (p.Leu33574=)
c.100717T>C (p.Leu33573=)
c.97759T>C (p.Leu32587=)
c.79375T>C (p.Leu26459=)
c.100870T>C (p.Leu33624=)
c.100867T>C (p.Leu33623=)
c.100300T>C (p.Leu33434=)
c.97642T>C (p.Leu32548=)
c.97561T>C (p.Leu32521=)
c.79324T>C (p.Leu26442=)
c.69178T>C (p.Leu23060=)
2g.178530062A>TCA349405314TTN,TTN-AS1c.98725T>A (p.Leu32909Ile)
c.79810T>A (p.Leu26604Ile)
c.79609T>A (p.Leu26537Ile)
c.79234T>A (p.Leu26412Ile)
c.106429T>A (p.Leu35477Ile)
c.101506T>A (p.Leu33836Ile)
n.446+6426A>T
n.220-5670A>T
c.105526T>A (p.Leu35176Ile)
c.79420T>A (p.Leu26474Ile)
c.79279T>A (p.Leu26427Ile)
c.105322T>A (p.Leu35108Ile)
c.100720T>A (p.Leu33574Ile)
c.100717T>A (p.Leu33573Ile)
c.97759T>A (p.Leu32587Ile)
c.79375T>A (p.Leu26459Ile)
c.100870T>A (p.Leu33624Ile)
c.100867T>A (p.Leu33623Ile)
c.100300T>A (p.Leu33434Ile)
c.97642T>A (p.Leu32548Ile)
c.97561T>A (p.Leu32521Ile)
c.79324T>A (p.Leu26442Ile)
c.69178T>A (p.Leu23060Ile)
2g.178530063G>ACA430093917TTN,TTN-AS1c.98724C>T (p.Phe32908=)
c.79809C>T (p.Phe26603=)
c.79608C>T (p.Phe26536=)
c.79233C>T (p.Phe26411=)
c.106428C>T (p.Phe35476=)
c.101505C>T (p.Phe33835=)
n.446+6427G>A
n.220-5669G>A
c.105525C>T (p.Phe35175=)
c.79419C>T (p.Phe26473=)
c.79278C>T (p.Phe26426=)
c.105321C>T (p.Phe35107=)
c.100719C>T (p.Phe33573=)
c.100716C>T (p.Phe33572=)
c.97758C>T (p.Phe32586=)
c.79374C>T (p.Phe26458=)
c.100869C>T (p.Phe33623=)
c.100866C>T (p.Phe33622=)
c.100299C>T (p.Phe33433=)
c.97641C>T (p.Phe32547=)
c.97560C>T (p.Phe32520=)
c.79323C>T (p.Phe26441=)
c.69177C>T (p.Phe23059=)
2g.178530063G>CCA349405317TTN,TTN-AS1c.98724C>G (p.Phe32908Leu)
c.79809C>G (p.Phe26603Leu)
c.79608C>G (p.Phe26536Leu)
c.79233C>G (p.Phe26411Leu)
c.106428C>G (p.Phe35476Leu)
c.101505C>G (p.Phe33835Leu)
n.446+6427G>C
n.220-5669G>C
c.105525C>G (p.Phe35175Leu)
c.79419C>G (p.Phe26473Leu)
c.79278C>G (p.Phe26426Leu)
c.105321C>G (p.Phe35107Leu)
c.100719C>G (p.Phe33573Leu)
c.100716C>G (p.Phe33572Leu)
c.97758C>G (p.Phe32586Leu)
c.79374C>G (p.Phe26458Leu)
c.100869C>G (p.Phe33623Leu)
c.100866C>G (p.Phe33622Leu)
c.100299C>G (p.Phe33433Leu)
c.97641C>G (p.Phe32547Leu)
c.97560C>G (p.Phe32520Leu)
c.79323C>G (p.Phe26441Leu)
c.69177C>G (p.Phe23059Leu)
2g.178530063G=CA1310511403TTN,TTN-AS1c.98724C= (p.Phe32908=)
c.79809C= (p.Phe26603=)
c.79608C= (p.Phe26536=)
c.79233C= (p.Phe26411=)
c.106428C= (p.Phe35476=)
c.101505C= (p.Phe33835=)
n.446+6427G=
n.220-5669G=
c.105525C= (p.Phe35175=)
c.79419C= (p.Phe26473=)
c.79278C= (p.Phe26426=)
c.105321C= (p.Phe35107=)
c.100719C= (p.Phe33573=)
c.100716C= (p.Phe33572=)
c.97758C= (p.Phe32586=)
c.79374C= (p.Phe26458=)
c.100869C= (p.Phe33623=)
c.100866C= (p.Phe33622=)
c.100299C= (p.Phe33433=)
c.97641C= (p.Phe32547=)
c.97560C= (p.Phe32520=)
c.79323C= (p.Phe26441=)
c.69177C= (p.Phe23059=)
2g.178530063G>TCA349405324TTN,TTN-AS1c.98724C>A (p.Phe32908Leu)
c.79809C>A (p.Phe26603Leu)
c.79608C>A (p.Phe26536Leu)
c.79233C>A (p.Phe26411Leu)
c.106428C>A (p.Phe35476Leu)
c.101505C>A (p.Phe33835Leu)
n.446+6427G>T
n.220-5669G>T
c.105525C>A (p.Phe35175Leu)
c.79419C>A (p.Phe26473Leu)
c.79278C>A (p.Phe26426Leu)
c.105321C>A (p.Phe35107Leu)
c.100719C>A (p.Phe33573Leu)
c.100716C>A (p.Phe33572Leu)
c.97758C>A (p.Phe32586Leu)
c.79374C>A (p.Phe26458Leu)
c.100869C>A (p.Phe33623Leu)
c.100866C>A (p.Phe33622Leu)
c.100299C>A (p.Phe33433Leu)
c.97641C>A (p.Phe32547Leu)
c.97560C>A (p.Phe32520Leu)
c.79323C>A (p.Phe26441Leu)
c.69177C>A (p.Phe23059Leu)
2g.178530063_178530064insCATAAAAAGCAGTTATTCA2546752935TTN,TTN-AS1c.98723_98724insAATAACTGCTTTTTATG (p.Phe32908LeufsTer8)
c.79808_79809insAATAACTGCTTTTTATG (p.Phe26603LeufsTer8)
c.79607_79608insAATAACTGCTTTTTATG (p.Phe26536LeufsTer8)
c.79232_79233insAATAACTGCTTTTTATG (p.Phe26411LeufsTer8)
c.106427_106428insAATAACTGCTTTTTATG (p.Phe35476LeufsTer8)
c.101504_101505insAATAACTGCTTTTTATG (p.Phe33835LeufsTer8)
n.446+6427_446+6428insCATAAAAAGCAGTTATT
n.220-5669_220-5668insCATAAAAAGCAGTTATT
c.105524_105525insAATAACTGCTTTTTATG (p.Phe35175LeufsTer8)
c.79418_79419insAATAACTGCTTTTTATG (p.Phe26473LeufsTer8)
c.79277_79278insAATAACTGCTTTTTATG (p.Phe26426LeufsTer8)
c.105320_105321insAATAACTGCTTTTTATG (p.Phe35107LeufsTer8)
c.100718_100719insAATAACTGCTTTTTATG (p.Phe33573LeufsTer8)
c.100715_100716insAATAACTGCTTTTTATG (p.Phe33572LeufsTer8)
c.97757_97758insAATAACTGCTTTTTATG (p.Phe32586LeufsTer8)
c.79373_79374insAATAACTGCTTTTTATG (p.Phe26458LeufsTer8)
c.100868_100869insAATAACTGCTTTTTATG (p.Phe33623LeufsTer8)
c.100865_100866insAATAACTGCTTTTTATG (p.Phe33622LeufsTer8)
c.100298_100299insAATAACTGCTTTTTATG (p.Phe33433LeufsTer8)
c.97640_97641insAATAACTGCTTTTTATG (p.Phe32547LeufsTer8)
c.97559_97560insAATAACTGCTTTTTATG (p.Phe32520LeufsTer8)
c.79322_79323insAATAACTGCTTTTTATG (p.Phe26441LeufsTer8)
c.69176_69177insAATAACTGCTTTTTATG (p.Phe23059LeufsTer8)
2g.178530064A>CCA349405327TTN,TTN-AS1c.98723T>G (p.Phe32908Cys)
c.79808T>G (p.Phe26603Cys)
c.79607T>G (p.Phe26536Cys)
c.79232T>G (p.Phe26411Cys)
c.106427T>G (p.Phe35476Cys)
c.101504T>G (p.Phe33835Cys)
n.446+6428A>C
n.220-5668A>C
c.105524T>G (p.Phe35175Cys)
c.79418T>G (p.Phe26473Cys)
c.79277T>G (p.Phe26426Cys)
c.105320T>G (p.Phe35107Cys)
c.100718T>G (p.Phe33573Cys)
c.100715T>G (p.Phe33572Cys)
c.97757T>G (p.Phe32586Cys)
c.79373T>G (p.Phe26458Cys)
c.100868T>G (p.Phe33623Cys)
c.100865T>G (p.Phe33622Cys)
c.100298T>G (p.Phe33433Cys)
c.97640T>G (p.Phe32547Cys)
c.97559T>G (p.Phe32520Cys)
c.79322T>G (p.Phe26441Cys)
c.69176T>G (p.Phe23059Cys)
2g.178530064A>GCA349405329TTN,TTN-AS1c.98723T>C (p.Phe32908Ser)
c.79808T>C (p.Phe26603Ser)
c.79607T>C (p.Phe26536Ser)
c.79232T>C (p.Phe26411Ser)
c.106427T>C (p.Phe35476Ser)
c.101504T>C (p.Phe33835Ser)
n.446+6428A>G
n.220-5668A>G
c.105524T>C (p.Phe35175Ser)
c.79418T>C (p.Phe26473Ser)
c.79277T>C (p.Phe26426Ser)
c.105320T>C (p.Phe35107Ser)
c.100718T>C (p.Phe33573Ser)
c.100715T>C (p.Phe33572Ser)
c.97757T>C (p.Phe32586Ser)
c.79373T>C (p.Phe26458Ser)
c.100868T>C (p.Phe33623Ser)
c.100865T>C (p.Phe33622Ser)
c.100298T>C (p.Phe33433Ser)
c.97640T>C (p.Phe32547Ser)
c.97559T>C (p.Phe32520Ser)
c.79322T>C (p.Phe26441Ser)
c.69176T>C (p.Phe23059Ser)
2g.178530064A>TCA349405332TTN,TTN-AS1c.98723T>A (p.Phe32908Tyr)
c.79808T>A (p.Phe26603Tyr)
c.79607T>A (p.Phe26536Tyr)
c.79232T>A (p.Phe26411Tyr)
c.106427T>A (p.Phe35476Tyr)
c.101504T>A (p.Phe33835Tyr)
n.446+6428A>T
n.220-5668A>T
c.105524T>A (p.Phe35175Tyr)
c.79418T>A (p.Phe26473Tyr)
c.79277T>A (p.Phe26426Tyr)
c.105320T>A (p.Phe35107Tyr)
c.100718T>A (p.Phe33573Tyr)
c.100715T>A (p.Phe33572Tyr)
c.97757T>A (p.Phe32586Tyr)
c.79373T>A (p.Phe26458Tyr)
c.100868T>A (p.Phe33623Tyr)
c.100865T>A (p.Phe33622Tyr)
c.100298T>A (p.Phe33433Tyr)
c.97640T>A (p.Phe32547Tyr)
c.97559T>A (p.Phe32520Tyr)
c.79322T>A (p.Phe26441Tyr)
c.69176T>A (p.Phe23059Tyr)
2g.178530065dupCA538090273TTN,TTN-AS1c.98723dup (p.Glu32910ArgfsTer4)
c.79808dup (p.Glu26605ArgfsTer4)
c.79607dup (p.Glu26538ArgfsTer4)
c.79232dup (p.Glu26413ArgfsTer4)
c.106427dup (p.Glu35478ArgfsTer4)
c.101504dup (p.Glu33837ArgfsTer4)
n.446+6429dup
n.220-5667dup
c.105524dup (p.Glu35177ArgfsTer4)
c.79418dup (p.Glu26475ArgfsTer4)
c.79277dup (p.Glu26428ArgfsTer4)
c.105320dup (p.Glu35109ArgfsTer4)
c.100718dup (p.Glu33575ArgfsTer4)
c.100715dup (p.Glu33574ArgfsTer4)
c.97757dup (p.Glu32588ArgfsTer4)
c.79373dup (p.Glu26460ArgfsTer4)
c.100868dup (p.Glu33625ArgfsTer4)
c.100865dup (p.Glu33624ArgfsTer4)
c.100298dup (p.Glu33435ArgfsTer4)
c.97640dup (p.Glu32549ArgfsTer4)
c.97559dup (p.Glu32522ArgfsTer4)
c.79322dup (p.Glu26443ArgfsTer4)
c.69176dup (p.Glu23061ArgfsTer4)
 dbSNP gnomAD v2 gnomAD v4
2g.178530065A>CCA349405336TTN,TTN-AS1c.98722T>G (p.Phe32908Val)
c.79807T>G (p.Phe26603Val)
c.79606T>G (p.Phe26536Val)
c.79231T>G (p.Phe26411Val)
c.106426T>G (p.Phe35476Val)
c.101503T>G (p.Phe33835Val)
n.446+6429A>C
n.220-5667A>C
c.105523T>G (p.Phe35175Val)
c.79417T>G (p.Phe26473Val)
c.79276T>G (p.Phe26426Val)
c.105319T>G (p.Phe35107Val)
c.100717T>G (p.Phe33573Val)
c.100714T>G (p.Phe33572Val)
c.97756T>G (p.Phe32586Val)
c.79372T>G (p.Phe26458Val)
c.100867T>G (p.Phe33623Val)
c.100864T>G (p.Phe33622Val)
c.100297T>G (p.Phe33433Val)
c.97639T>G (p.Phe32547Val)
c.97558T>G (p.Phe32520Val)
c.79321T>G (p.Phe26441Val)
c.69175T>G (p.Phe23059Val)
2g.178530065A>GCA349405339TTN,TTN-AS1c.98722T>C (p.Phe32908Leu)
c.79807T>C (p.Phe26603Leu)
c.79606T>C (p.Phe26536Leu)
c.79231T>C (p.Phe26411Leu)
c.106426T>C (p.Phe35476Leu)
c.101503T>C (p.Phe33835Leu)
n.446+6429A>G
n.220-5667A>G
c.105523T>C (p.Phe35175Leu)
c.79417T>C (p.Phe26473Leu)
c.79276T>C (p.Phe26426Leu)
c.105319T>C (p.Phe35107Leu)
c.100717T>C (p.Phe33573Leu)
c.100714T>C (p.Phe33572Leu)
c.97756T>C (p.Phe32586Leu)
c.79372T>C (p.Phe26458Leu)
c.100867T>C (p.Phe33623Leu)
c.100864T>C (p.Phe33622Leu)
c.100297T>C (p.Phe33433Leu)
c.97639T>C (p.Phe32547Leu)
c.97558T>C (p.Phe32520Leu)
c.79321T>C (p.Phe26441Leu)
c.69175T>C (p.Phe23059Leu)
 gnomAD v4
2g.178530065A>TCA349405334TTN,TTN-AS1c.98722T>A (p.Phe32908Ile)
c.79807T>A (p.Phe26603Ile)
c.79606T>A (p.Phe26536Ile)
c.79231T>A (p.Phe26411Ile)
c.106426T>A (p.Phe35476Ile)
c.101503T>A (p.Phe33835Ile)
n.446+6429A>T
n.220-5667A>T
c.105523T>A (p.Phe35175Ile)
c.79417T>A (p.Phe26473Ile)
c.79276T>A (p.Phe26426Ile)
c.105319T>A (p.Phe35107Ile)
c.100717T>A (p.Phe33573Ile)
c.100714T>A (p.Phe33572Ile)
c.97756T>A (p.Phe32586Ile)
c.79372T>A (p.Phe26458Ile)
c.100867T>A (p.Phe33623Ile)
c.100864T>A (p.Phe33622Ile)
c.100297T>A (p.Phe33433Ile)
c.97639T>A (p.Phe32547Ile)
c.97558T>A (p.Phe32520Ile)
c.79321T>A (p.Phe26441Ile)
c.69175T>A (p.Phe23059Ile)
2g.178530066G>ACA430093926TTN,TTN-AS1c.98721C>T (p.Phe32907=)
c.79806C>T (p.Phe26602=)
c.79605C>T (p.Phe26535=)
c.79230C>T (p.Phe26410=)
c.106425C>T (p.Phe35475=)
c.101502C>T (p.Phe33834=)
n.446+6430G>A
n.220-5666G>A
c.105522C>T (p.Phe35174=)
c.79416C>T (p.Phe26472=)
c.79275C>T (p.Phe26425=)
c.105318C>T (p.Phe35106=)
c.100716C>T (p.Phe33572=)
c.100713C>T (p.Phe33571=)
c.97755C>T (p.Phe32585=)
c.79371C>T (p.Phe26457=)
c.100866C>T (p.Phe33622=)
c.100863C>T (p.Phe33621=)
c.100296C>T (p.Phe33432=)
c.97638C>T (p.Phe32546=)
c.97557C>T (p.Phe32519=)
c.79320C>T (p.Phe26440=)
c.69174C>T (p.Phe23058=)
 ClinVar dbSNP
2g.178530066G>CCA349405343TTN,TTN-AS1c.98721C>G (p.Phe32907Leu)
c.79806C>G (p.Phe26602Leu)
c.79605C>G (p.Phe26535Leu)
c.79230C>G (p.Phe26410Leu)
c.106425C>G (p.Phe35475Leu)
c.101502C>G (p.Phe33834Leu)
n.446+6430G>C
n.220-5666G>C
c.105522C>G (p.Phe35174Leu)
c.79416C>G (p.Phe26472Leu)
c.79275C>G (p.Phe26425Leu)
c.105318C>G (p.Phe35106Leu)
c.100716C>G (p.Phe33572Leu)
c.100713C>G (p.Phe33571Leu)
c.97755C>G (p.Phe32585Leu)
c.79371C>G (p.Phe26457Leu)
c.100866C>G (p.Phe33622Leu)
c.100863C>G (p.Phe33621Leu)
c.100296C>G (p.Phe33432Leu)
c.97638C>G (p.Phe32546Leu)
c.97557C>G (p.Phe32519Leu)
c.79320C>G (p.Phe26440Leu)
c.69174C>G (p.Phe23058Leu)
2g.178530066G=CA1310511409TTN,TTN-AS1c.98721C= (p.Phe32907=)
c.79806C= (p.Phe26602=)
c.79605C= (p.Phe26535=)
c.79230C= (p.Phe26410=)
c.106425C= (p.Phe35475=)
c.101502C= (p.Phe33834=)
n.446+6430G=
n.220-5666G=
c.105522C= (p.Phe35174=)
c.79416C= (p.Phe26472=)
c.79275C= (p.Phe26425=)
c.105318C= (p.Phe35106=)
c.100716C= (p.Phe33572=)
c.100713C= (p.Phe33571=)
c.97755C= (p.Phe32585=)
c.79371C= (p.Phe26457=)
c.100866C= (p.Phe33622=)
c.100863C= (p.Phe33621=)
c.100296C= (p.Phe33432=)
c.97638C= (p.Phe32546=)
c.97557C= (p.Phe32519=)
c.79320C= (p.Phe26440=)
c.69174C= (p.Phe23058=)
2g.178530066G>TCA349405345TTN,TTN-AS1c.98721C>A (p.Phe32907Leu)
c.79806C>A (p.Phe26602Leu)
c.79605C>A (p.Phe26535Leu)
c.79230C>A (p.Phe26410Leu)
c.106425C>A (p.Phe35475Leu)
c.101502C>A (p.Phe33834Leu)
n.446+6430G>T
n.220-5666G>T
c.105522C>A (p.Phe35174Leu)
c.79416C>A (p.Phe26472Leu)
c.79275C>A (p.Phe26425Leu)
c.105318C>A (p.Phe35106Leu)
c.100716C>A (p.Phe33572Leu)
c.100713C>A (p.Phe33571Leu)
c.97755C>A (p.Phe32585Leu)
c.79371C>A (p.Phe26457Leu)
c.100866C>A (p.Phe33622Leu)
c.100863C>A (p.Phe33621Leu)
c.100296C>A (p.Phe33432Leu)
c.97638C>A (p.Phe32546Leu)
c.97557C>A (p.Phe32519Leu)
c.79320C>A (p.Phe26440Leu)
c.69174C>A (p.Phe23058Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.178530067A>CCA349405350TTN,TTN-AS1c.98720T>G (p.Phe32907Cys)
c.79805T>G (p.Phe26602Cys)
c.79604T>G (p.Phe26535Cys)
c.79229T>G (p.Phe26410Cys)
c.106424T>G (p.Phe35475Cys)
c.101501T>G (p.Phe33834Cys)
n.446+6431A>C
n.220-5665A>C
c.105521T>G (p.Phe35174Cys)
c.79415T>G (p.Phe26472Cys)
c.79274T>G (p.Phe26425Cys)
c.105317T>G (p.Phe35106Cys)
c.100715T>G (p.Phe33572Cys)
c.100712T>G (p.Phe33571Cys)
c.97754T>G (p.Phe32585Cys)
c.79370T>G (p.Phe26457Cys)
c.100865T>G (p.Phe33622Cys)
c.100862T>G (p.Phe33621Cys)
c.100295T>G (p.Phe33432Cys)
c.97637T>G (p.Phe32546Cys)
c.97556T>G (p.Phe32519Cys)
c.79319T>G (p.Phe26440Cys)
c.69173T>G (p.Phe23058Cys)
 gnomAD v4
2g.178530067A>GCA349405351TTN,TTN-AS1c.98720T>C (p.Phe32907Ser)
c.79805T>C (p.Phe26602Ser)
c.79604T>C (p.Phe26535Ser)
c.79229T>C (p.Phe26410Ser)
c.106424T>C (p.Phe35475Ser)
c.101501T>C (p.Phe33834Ser)
n.446+6431A>G
n.220-5665A>G
c.105521T>C (p.Phe35174Ser)
c.79415T>C (p.Phe26472Ser)
c.79274T>C (p.Phe26425Ser)
c.105317T>C (p.Phe35106Ser)
c.100715T>C (p.Phe33572Ser)
c.100712T>C (p.Phe33571Ser)
c.97754T>C (p.Phe32585Ser)
c.79370T>C (p.Phe26457Ser)
c.100865T>C (p.Phe33622Ser)
c.100862T>C (p.Phe33621Ser)
c.100295T>C (p.Phe33432Ser)
c.97637T>C (p.Phe32546Ser)
c.97556T>C (p.Phe32519Ser)
c.79319T>C (p.Phe26440Ser)
c.69173T>C (p.Phe23058Ser)
2g.178530067A>TCA349405354TTN,TTN-AS1c.98720T>A (p.Phe32907Tyr)
c.79805T>A (p.Phe26602Tyr)
c.79604T>A (p.Phe26535Tyr)
c.79229T>A (p.Phe26410Tyr)
c.106424T>A (p.Phe35475Tyr)
c.101501T>A (p.Phe33834Tyr)
n.446+6431A>T
n.220-5665A>T
c.105521T>A (p.Phe35174Tyr)
c.79415T>A (p.Phe26472Tyr)
c.79274T>A (p.Phe26425Tyr)
c.105317T>A (p.Phe35106Tyr)
c.100715T>A (p.Phe33572Tyr)
c.100712T>A (p.Phe33571Tyr)
c.97754T>A (p.Phe32585Tyr)
c.79370T>A (p.Phe26457Tyr)
c.100865T>A (p.Phe33622Tyr)
c.100862T>A (p.Phe33621Tyr)
c.100295T>A (p.Phe33432Tyr)
c.97637T>A (p.Phe32546Tyr)
c.97556T>A (p.Phe32519Tyr)
c.79319T>A (p.Phe26440Tyr)
c.69173T>A (p.Phe23058Tyr)
2g.178530068A=CA1310511413TTN,TTN-AS1c.98719T= (p.Phe32907=)
c.79804T= (p.Phe26602=)
c.79603T= (p.Phe26535=)
c.79228T= (p.Phe26410=)
c.106423T= (p.Phe35475=)
c.101500T= (p.Phe33834=)
n.446+6432A=
n.220-5664A=
c.105520T= (p.Phe35174=)
c.79414T= (p.Phe26472=)
c.79273T= (p.Phe26425=)
c.105316T= (p.Phe35106=)
c.100714T= (p.Phe33572=)
c.100711T= (p.Phe33571=)
c.97753T= (p.Phe32585=)
c.79369T= (p.Phe26457=)
c.100864T= (p.Phe33622=)
c.100861T= (p.Phe33621=)
c.100294T= (p.Phe33432=)
c.97636T= (p.Phe32546=)
c.97555T= (p.Phe32519=)
c.79318T= (p.Phe26440=)
c.69172T= (p.Phe23058=)
2g.178530068A>CCA1985105TTN,TTN-AS1c.98719T>G (p.Phe32907Val)
c.79804T>G (p.Phe26602Val)
c.79603T>G (p.Phe26535Val)
c.79228T>G (p.Phe26410Val)
c.106423T>G (p.Phe35475Val)
c.101500T>G (p.Phe33834Val)
n.446+6432A>C
n.220-5664A>C
c.105520T>G (p.Phe35174Val)
c.79414T>G (p.Phe26472Val)
c.79273T>G (p.Phe26425Val)
c.105316T>G (p.Phe35106Val)
c.100714T>G (p.Phe33572Val)
c.100711T>G (p.Phe33571Val)
c.97753T>G (p.Phe32585Val)
c.79369T>G (p.Phe26457Val)
c.100864T>G (p.Phe33622Val)
c.100861T>G (p.Phe33621Val)
c.100294T>G (p.Phe33432Val)
c.97636T>G (p.Phe32546Val)
c.97555T>G (p.Phe32519Val)
c.79318T>G (p.Phe26440Val)
c.69172T>G (p.Phe23058Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178530068A>GCA349405358TTN,TTN-AS1c.98719T>C (p.Phe32907Leu)
c.79804T>C (p.Phe26602Leu)
c.79603T>C (p.Phe26535Leu)
c.79228T>C (p.Phe26410Leu)
c.106423T>C (p.Phe35475Leu)
c.101500T>C (p.Phe33834Leu)
n.446+6432A>G
n.220-5664A>G
c.105520T>C (p.Phe35174Leu)
c.79414T>C (p.Phe26472Leu)
c.79273T>C (p.Phe26425Leu)
c.105316T>C (p.Phe35106Leu)
c.100714T>C (p.Phe33572Leu)
c.100711T>C (p.Phe33571Leu)
c.97753T>C (p.Phe32585Leu)
c.79369T>C (p.Phe26457Leu)
c.100864T>C (p.Phe33622Leu)
c.100861T>C (p.Phe33621Leu)
c.100294T>C (p.Phe33432Leu)
c.97636T>C (p.Phe32546Leu)
c.97555T>C (p.Phe32519Leu)
c.79318T>C (p.Phe26440Leu)
c.69172T>C (p.Phe23058Leu)
2g.178530068A>TCA1985104TTN,TTN-AS1c.98719T>A (p.Phe32907Ile)
c.79804T>A (p.Phe26602Ile)
c.79603T>A (p.Phe26535Ile)
c.79228T>A (p.Phe26410Ile)
c.106423T>A (p.Phe35475Ile)
c.101500T>A (p.Phe33834Ile)
n.446+6432A>T
n.220-5664A>T
c.105520T>A (p.Phe35174Ile)
c.79414T>A (p.Phe26472Ile)
c.79273T>A (p.Phe26425Ile)
c.105316T>A (p.Phe35106Ile)
c.100714T>A (p.Phe33572Ile)
c.100711T>A (p.Phe33571Ile)
c.97753T>A (p.Phe32585Ile)
c.79369T>A (p.Phe26457Ile)
c.100864T>A (p.Phe33622Ile)
c.100861T>A (p.Phe33621Ile)
c.100294T>A (p.Phe33432Ile)
c.97636T>A (p.Phe32546Ile)
c.97555T>A (p.Phe32519Ile)
c.79318T>A (p.Phe26440Ile)
c.69172T>A (p.Phe23058Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178530069C>ACA430093936TTN,TTN-AS1c.98718G>T (p.Gly32906=)
c.79803G>T (p.Gly26601=)
c.79602G>T (p.Gly26534=)
c.79227G>T (p.Gly26409=)
c.106422G>T (p.Gly35474=)
c.101499G>T (p.Gly33833=)
n.446+6433C>A
n.220-5663C>A
c.105519G>T (p.Gly35173=)
c.79413G>T (p.Gly26471=)
c.79272G>T (p.Gly26424=)
c.105315G>T (p.Gly35105=)
c.100713G>T (p.Gly33571=)
c.100710G>T (p.Gly33570=)
c.97752G>T (p.Gly32584=)
c.79368G>T (p.Gly26456=)
c.100863G>T (p.Gly33621=)
c.100860G>T (p.Gly33620=)
c.100293G>T (p.Gly33431=)
c.97635G>T (p.Gly32545=)
c.97554G>T (p.Gly32518=)
c.79317G>T (p.Gly26439=)
c.69171G>T (p.Gly23057=)
2g.178530069C=CA1310511423TTN,TTN-AS1c.98718G= (p.Gly32906=)
c.79803G= (p.Gly26601=)
c.79602G= (p.Gly26534=)
c.79227G= (p.Gly26409=)
c.106422G= (p.Gly35474=)
c.101499G= (p.Gly33833=)
n.446+6433C=
n.220-5663C=
c.105519G= (p.Gly35173=)
c.79413G= (p.Gly26471=)
c.79272G= (p.Gly26424=)
c.105315G= (p.Gly35105=)
c.100713G= (p.Gly33571=)
c.100710G= (p.Gly33570=)
c.97752G= (p.Gly32584=)
c.79368G= (p.Gly26456=)
c.100863G= (p.Gly33621=)
c.100860G= (p.Gly33620=)
c.100293G= (p.Gly33431=)
c.97635G= (p.Gly32545=)
c.97554G= (p.Gly32518=)
c.79317G= (p.Gly26439=)
c.69171G= (p.Gly23057=)
2g.178530069C>GCA1985106TTN,TTN-AS1c.98718G>C (p.Gly32906=)
c.79803G>C (p.Gly26601=)
c.79602G>C (p.Gly26534=)
c.79227G>C (p.Gly26409=)
c.106422G>C (p.Gly35474=)
c.101499G>C (p.Gly33833=)
n.446+6433C>G
n.220-5663C>G
c.105519G>C (p.Gly35173=)
c.79413G>C (p.Gly26471=)
c.79272G>C (p.Gly26424=)
c.105315G>C (p.Gly35105=)
c.100713G>C (p.Gly33571=)
c.100710G>C (p.Gly33570=)
c.97752G>C (p.Gly32584=)
c.79368G>C (p.Gly26456=)
c.100863G>C (p.Gly33621=)
c.100860G>C (p.Gly33620=)
c.100293G>C (p.Gly33431=)
c.97635G>C (p.Gly32545=)
c.97554G>C (p.Gly32518=)
c.79317G>C (p.Gly26439=)
c.69171G>C (p.Gly23057=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
2g.178530069C>TCA1985107TTN,TTN-AS1c.98718G>A (p.Gly32906=)
c.79803G>A (p.Gly26601=)
c.79602G>A (p.Gly26534=)
c.79227G>A (p.Gly26409=)
c.106422G>A (p.Gly35474=)
c.101499G>A (p.Gly33833=)
n.446+6433C>T
n.220-5663C>T
c.105519G>A (p.Gly35173=)
c.79413G>A (p.Gly26471=)
c.79272G>A (p.Gly26424=)
c.105315G>A (p.Gly35105=)
c.100713G>A (p.Gly33571=)
c.100710G>A (p.Gly33570=)
c.97752G>A (p.Gly32584=)
c.79368G>A (p.Gly26456=)
c.100863G>A (p.Gly33621=)
c.100860G>A (p.Gly33620=)
c.100293G>A (p.Gly33431=)
c.97635G>A (p.Gly32545=)
c.97554G>A (p.Gly32518=)
c.79317G>A (p.Gly26439=)
c.69171G>A (p.Gly23057=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.178530071delCA2017999288TTN,TTN-AS1c.98718del (p.Phe32907SerfsTer3)
c.79803del (p.Phe26602SerfsTer3)
c.79602del (p.Phe26535SerfsTer3)
c.79227del (p.Phe26410SerfsTer3)
c.106422del (p.Phe35475SerfsTer3)
c.101499del (p.Phe33834SerfsTer3)
n.446+6435del
n.220-5661del
c.105519del (p.Phe35174SerfsTer3)
c.79413del (p.Phe26472SerfsTer3)
c.79272del (p.Phe26425SerfsTer3)
c.105315del (p.Phe35106SerfsTer3)
c.100713del (p.Phe33572SerfsTer3)
c.100710del (p.Phe33571SerfsTer3)
c.97752del (p.Phe32585SerfsTer3)
c.79368del (p.Phe26457SerfsTer3)
c.100863del (p.Phe33622SerfsTer3)
c.100860del (p.Phe33621SerfsTer3)
c.100293del (p.Phe33432SerfsTer3)
c.97635del (p.Phe32546SerfsTer3)
c.97554del (p.Phe32519SerfsTer3)
c.79317del (p.Phe26440SerfsTer3)
c.69171del (p.Phe23058SerfsTer3)
2g.178530070C>ACA1985108TTN,TTN-AS1c.98717G>T (p.Gly32906Val)
c.79802G>T (p.Gly26601Val)
c.79601G>T (p.Gly26534Val)
c.79226G>T (p.Gly26409Val)
c.106421G>T (p.Gly35474Val)
c.101498G>T (p.Gly33833Val)
n.446+6434C>A
n.220-5662C>A
c.105518G>T (p.Gly35173Val)
c.79412G>T (p.Gly26471Val)
c.79271G>T (p.Gly26424Val)
c.105314G>T (p.Gly35105Val)
c.100712G>T (p.Gly33571Val)
c.100709G>T (p.Gly33570Val)
c.97751G>T (p.Gly32584Val)
c.79367G>T (p.Gly26456Val)
c.100862G>T (p.Gly33621Val)
c.100859G>T (p.Gly33620Val)
c.100292G>T (p.Gly33431Val)
c.97634G>T (p.Gly32545Val)
c.97553G>T (p.Gly32518Val)
c.79316G>T (p.Gly26439Val)
c.69170G>T (p.Gly23057Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178530070C=CA1310511431TTN,TTN-AS1c.98717G= (p.Gly32906=)
c.79802G= (p.Gly26601=)
c.79601G= (p.Gly26534=)
c.79226G= (p.Gly26409=)
c.106421G= (p.Gly35474=)
c.101498G= (p.Gly33833=)
n.446+6434C=
n.220-5662C=
c.105518G= (p.Gly35173=)
c.79412G= (p.Gly26471=)
c.79271G= (p.Gly26424=)
c.105314G= (p.Gly35105=)
c.100712G= (p.Gly33571=)
c.100709G= (p.Gly33570=)
c.97751G= (p.Gly32584=)
c.79367G= (p.Gly26456=)
c.100862G= (p.Gly33621=)
c.100859G= (p.Gly33620=)
c.100292G= (p.Gly33431=)
c.97634G= (p.Gly32545=)
c.97553G= (p.Gly32518=)
c.79316G= (p.Gly26439=)
c.69170G= (p.Gly23057=)
2g.178530070C>GCA349405373TTN,TTN-AS1c.98717G>C (p.Gly32906Ala)
c.79802G>C (p.Gly26601Ala)
c.79601G>C (p.Gly26534Ala)
c.79226G>C (p.Gly26409Ala)
c.106421G>C (p.Gly35474Ala)
c.101498G>C (p.Gly33833Ala)
n.446+6434C>G
n.220-5662C>G
c.105518G>C (p.Gly35173Ala)
c.79412G>C (p.Gly26471Ala)
c.79271G>C (p.Gly26424Ala)
c.105314G>C (p.Gly35105Ala)
c.100712G>C (p.Gly33571Ala)
c.100709G>C (p.Gly33570Ala)
c.97751G>C (p.Gly32584Ala)
c.79367G>C (p.Gly26456Ala)
c.100862G>C (p.Gly33621Ala)
c.100859G>C (p.Gly33620Ala)
c.100292G>C (p.Gly33431Ala)
c.97634G>C (p.Gly32545Ala)
c.97553G>C (p.Gly32518Ala)
c.79316G>C (p.Gly26439Ala)
c.69170G>C (p.Gly23057Ala)
 gnomAD v4
2g.178530070C>TCA349405376TTN,TTN-AS1c.98717G>A (p.Gly32906Glu)
c.79802G>A (p.Gly26601Glu)
c.79601G>A (p.Gly26534Glu)
c.79226G>A (p.Gly26409Glu)
c.106421G>A (p.Gly35474Glu)
c.101498G>A (p.Gly33833Glu)
n.446+6434C>T
n.220-5662C>T
c.105518G>A (p.Gly35173Glu)
c.79412G>A (p.Gly26471Glu)
c.79271G>A (p.Gly26424Glu)
c.105314G>A (p.Gly35105Glu)
c.100712G>A (p.Gly33571Glu)
c.100709G>A (p.Gly33570Glu)
c.97751G>A (p.Gly32584Glu)
c.79367G>A (p.Gly26456Glu)
c.100862G>A (p.Gly33621Glu)
c.100859G>A (p.Gly33620Glu)
c.100292G>A (p.Gly33431Glu)
c.97634G>A (p.Gly32545Glu)
c.97553G>A (p.Gly32518Glu)
c.79316G>A (p.Gly26439Glu)
c.69170G>A (p.Gly23057Glu)
2g.178530071C>ACA349405380TTN,TTN-AS1c.98716G>T (p.Gly32906Trp)
c.79801G>T (p.Gly26601Trp)
c.79600G>T (p.Gly26534Trp)
c.79225G>T (p.Gly26409Trp)
c.106420G>T (p.Gly35474Trp)
c.101497G>T (p.Gly33833Trp)
n.446+6435C>A
n.220-5661C>A
c.105517G>T (p.Gly35173Trp)
c.79411G>T (p.Gly26471Trp)
c.79270G>T (p.Gly26424Trp)
c.105313G>T (p.Gly35105Trp)
c.100711G>T (p.Gly33571Trp)
c.100708G>T (p.Gly33570Trp)
c.97750G>T (p.Gly32584Trp)
c.79366G>T (p.Gly26456Trp)
c.100861G>T (p.Gly33621Trp)
c.100858G>T (p.Gly33620Trp)
c.100291G>T (p.Gly33431Trp)
c.97633G>T (p.Gly32545Trp)
c.97552G>T (p.Gly32518Trp)
c.79315G>T (p.Gly26439Trp)
c.69169G>T (p.Gly23057Trp)
2g.178530071C>GCA349405385TTN,TTN-AS1c.98716G>C (p.Gly32906Arg)
c.79801G>C (p.Gly26601Arg)
c.79600G>C (p.Gly26534Arg)
c.79225G>C (p.Gly26409Arg)
c.106420G>C (p.Gly35474Arg)
c.101497G>C (p.Gly33833Arg)
n.446+6435C>G
n.220-5661C>G
c.105517G>C (p.Gly35173Arg)
c.79411G>C (p.Gly26471Arg)
c.79270G>C (p.Gly26424Arg)
c.105313G>C (p.Gly35105Arg)
c.100711G>C (p.Gly33571Arg)
c.100708G>C (p.Gly33570Arg)
c.97750G>C (p.Gly32584Arg)
c.79366G>C (p.Gly26456Arg)
c.100861G>C (p.Gly33621Arg)
c.100858G>C (p.Gly33620Arg)
c.100291G>C (p.Gly33431Arg)
c.97633G>C (p.Gly32545Arg)
c.97552G>C (p.Gly32518Arg)
c.79315G>C (p.Gly26439Arg)
c.69169G>C (p.Gly23057Arg)
 dbSNP
2g.178530071C>TCA349405382TTN,TTN-AS1c.98716G>A (p.Gly32906Arg)
c.79801G>A (p.Gly26601Arg)
c.79600G>A (p.Gly26534Arg)
c.79225G>A (p.Gly26409Arg)
c.106420G>A (p.Gly35474Arg)
c.101497G>A (p.Gly33833Arg)
n.446+6435C>T
n.220-5661C>T
c.105517G>A (p.Gly35173Arg)
c.79411G>A (p.Gly26471Arg)
c.79270G>A (p.Gly26424Arg)
c.105313G>A (p.Gly35105Arg)
c.100711G>A (p.Gly33571Arg)
c.100708G>A (p.Gly33570Arg)
c.97750G>A (p.Gly32584Arg)
c.79366G>A (p.Gly26456Arg)
c.100861G>A (p.Gly33621Arg)
c.100858G>A (p.Gly33620Arg)
c.100291G>A (p.Gly33431Arg)
c.97633G>A (p.Gly32545Arg)
c.97552G>A (p.Gly32518Arg)
c.79315G>A (p.Gly26439Arg)
c.69169G>A (p.Gly23057Arg)
2g.178530072T>ACA430093945TTN,TTN-AS1c.98715A>T (p.Gly32905=)
c.79800A>T (p.Gly26600=)
c.79599A>T (p.Gly26533=)
c.79224A>T (p.Gly26408=)
c.106419A>T (p.Gly35473=)
c.101496A>T (p.Gly33832=)
n.446+6436T>A
n.220-5660T>A
c.105516A>T (p.Gly35172=)
c.79410A>T (p.Gly26470=)
c.79269A>T (p.Gly26423=)
c.105312A>T (p.Gly35104=)
c.100710A>T (p.Gly33570=)
c.100707A>T (p.Gly33569=)
c.97749A>T (p.Gly32583=)
c.79365A>T (p.Gly26455=)
c.100860A>T (p.Gly33620=)
c.100857A>T (p.Gly33619=)
c.100290A>T (p.Gly33430=)
c.97632A>T (p.Gly32544=)
c.97551A>T (p.Gly32517=)
c.79314A>T (p.Gly26438=)
c.69168A>T (p.Gly23056=)
2g.178530072T>CCA430093947TTN,TTN-AS1c.98715A>G (p.Gly32905=)
c.79800A>G (p.Gly26600=)
c.79599A>G (p.Gly26533=)
c.79224A>G (p.Gly26408=)
c.106419A>G (p.Gly35473=)
c.101496A>G (p.Gly33832=)
n.446+6436T>C
n.220-5660T>C
c.105516A>G (p.Gly35172=)
c.79410A>G (p.Gly26470=)
c.79269A>G (p.Gly26423=)
c.105312A>G (p.Gly35104=)
c.100710A>G (p.Gly33570=)
c.100707A>G (p.Gly33569=)
c.97749A>G (p.Gly32583=)
c.79365A>G (p.Gly26455=)
c.100860A>G (p.Gly33620=)
c.100857A>G (p.Gly33619=)
c.100290A>G (p.Gly33430=)
c.97632A>G (p.Gly32544=)
c.97551A>G (p.Gly32517=)
c.79314A>G (p.Gly26438=)
c.69168A>G (p.Gly23056=)
 dbSNP
2g.178530072T>GCA430093944TTN,TTN-AS1c.98715A>C (p.Gly32905=)
c.79800A>C (p.Gly26600=)
c.79599A>C (p.Gly26533=)
c.79224A>C (p.Gly26408=)
c.106419A>C (p.Gly35473=)
c.101496A>C (p.Gly33832=)
n.446+6436T>G
n.220-5660T>G
c.105516A>C (p.Gly35172=)
c.79410A>C (p.Gly26470=)
c.79269A>C (p.Gly26423=)
c.105312A>C (p.Gly35104=)
c.100710A>C (p.Gly33570=)
c.100707A>C (p.Gly33569=)
c.97749A>C (p.Gly32583=)
c.79365A>C (p.Gly26455=)
c.100860A>C (p.Gly33620=)
c.100857A>C (p.Gly33619=)
c.100290A>C (p.Gly33430=)
c.97632A>C (p.Gly32544=)
c.97551A>C (p.Gly32517=)
c.79314A>C (p.Gly26438=)
c.69168A>C (p.Gly23056=)
2g.178530072T=CA1310511433TTN,TTN-AS1c.98715A= (p.Gly32905=)
c.79800A= (p.Gly26600=)
c.79599A= (p.Gly26533=)
c.79224A= (p.Gly26408=)
c.106419A= (p.Gly35473=)
c.101496A= (p.Gly33832=)
n.446+6436T=
n.220-5660T=
c.105516A= (p.Gly35172=)
c.79410A= (p.Gly26470=)
c.79269A= (p.Gly26423=)
c.105312A= (p.Gly35104=)
c.100710A= (p.Gly33570=)
c.100707A= (p.Gly33569=)
c.97749A= (p.Gly32583=)
c.79365A= (p.Gly26455=)
c.100860A= (p.Gly33620=)
c.100857A= (p.Gly33619=)
c.100290A= (p.Gly33430=)
c.97632A= (p.Gly32544=)
c.97551A= (p.Gly32517=)
c.79314A= (p.Gly26438=)
c.69168A= (p.Gly23056=)
2g.178530073C>ACA349405388TTN,TTN-AS1c.98714G>T (p.Gly32905Val)
c.79799G>T (p.Gly26600Val)
c.79598G>T (p.Gly26533Val)
c.79223G>T (p.Gly26408Val)
c.106418G>T (p.Gly35473Val)
c.101495G>T (p.Gly33832Val)
n.446+6437C>A
n.220-5659C>A
c.105515G>T (p.Gly35172Val)
c.79409G>T (p.Gly26470Val)
c.79268G>T (p.Gly26423Val)
c.105311G>T (p.Gly35104Val)
c.100709G>T (p.Gly33570Val)
c.100706G>T (p.Gly33569Val)
c.97748G>T (p.Gly32583Val)
c.79364G>T (p.Gly26455Val)
c.100859G>T (p.Gly33620Val)
c.100856G>T (p.Gly33619Val)
c.100289G>T (p.Gly33430Val)
c.97631G>T (p.Gly32544Val)
c.97550G>T (p.Gly32517Val)
c.79313G>T (p.Gly26438Val)
c.69167G>T (p.Gly23056Val)
 dbSNP
2g.178530073C=CA1310511436TTN,TTN-AS1c.98714G= (p.Gly32905=)
c.79799G= (p.Gly26600=)
c.79598G= (p.Gly26533=)
c.79223G= (p.Gly26408=)
c.106418G= (p.Gly35473=)
c.101495G= (p.Gly33832=)
n.446+6437C=
n.220-5659C=
c.105515G= (p.Gly35172=)
c.79409G= (p.Gly26470=)
c.79268G= (p.Gly26423=)
c.105311G= (p.Gly35104=)
c.100709G= (p.Gly33570=)
c.100706G= (p.Gly33569=)
c.97748G= (p.Gly32583=)
c.79364G= (p.Gly26455=)
c.100859G= (p.Gly33620=)
c.100856G= (p.Gly33619=)
c.100289G= (p.Gly33430=)
c.97631G= (p.Gly32544=)
c.97550G= (p.Gly32517=)
c.79313G= (p.Gly26438=)
c.69167G= (p.Gly23056=)
2g.178530073C>GCA349405391TTN,TTN-AS1c.98714G>C (p.Gly32905Ala)
c.79799G>C (p.Gly26600Ala)
c.79598G>C (p.Gly26533Ala)
c.79223G>C (p.Gly26408Ala)
c.106418G>C (p.Gly35473Ala)
c.101495G>C (p.Gly33832Ala)
n.446+6437C>G
n.220-5659C>G
c.105515G>C (p.Gly35172Ala)
c.79409G>C (p.Gly26470Ala)
c.79268G>C (p.Gly26423Ala)
c.105311G>C (p.Gly35104Ala)
c.100709G>C (p.Gly33570Ala)
c.100706G>C (p.Gly33569Ala)
c.97748G>C (p.Gly32583Ala)
c.79364G>C (p.Gly26455Ala)
c.100859G>C (p.Gly33620Ala)
c.100856G>C (p.Gly33619Ala)
c.100289G>C (p.Gly33430Ala)
c.97631G>C (p.Gly32544Ala)
c.97550G>C (p.Gly32517Ala)
c.79313G>C (p.Gly26438Ala)
c.69167G>C (p.Gly23056Ala)
2g.178530073C>TCA349405393TTN,TTN-AS1c.98714G>A (p.Gly32905Glu)
c.79799G>A (p.Gly26600Glu)
c.79598G>A (p.Gly26533Glu)
c.79223G>A (p.Gly26408Glu)
c.106418G>A (p.Gly35473Glu)
c.101495G>A (p.Gly33832Glu)
n.446+6437C>T
n.220-5659C>T
c.105515G>A (p.Gly35172Glu)
c.79409G>A (p.Gly26470Glu)
c.79268G>A (p.Gly26423Glu)
c.105311G>A (p.Gly35104Glu)
c.100709G>A (p.Gly33570Glu)
c.100706G>A (p.Gly33569Glu)
c.97748G>A (p.Gly32583Glu)
c.79364G>A (p.Gly26455Glu)
c.100859G>A (p.Gly33620Glu)
c.100856G>A (p.Gly33619Glu)
c.100289G>A (p.Gly33430Glu)
c.97631G>A (p.Gly32544Glu)
c.97550G>A (p.Gly32517Glu)
c.79313G>A (p.Gly26438Glu)
c.69167G>A (p.Gly23056Glu)
 ClinVar dbSNP
2g.178530074C>ACA349405396TTN,TTN-AS1c.98713G>T (p.Gly32905Ter)
c.79798G>T (p.Gly26600Ter)
c.79597G>T (p.Gly26533Ter)
c.79222G>T (p.Gly26408Ter)
c.106417G>T (p.Gly35473Ter)
c.101494G>T (p.Gly33832Ter)
n.446+6438C>A
n.220-5658C>A
c.105514G>T (p.Gly35172Ter)
c.79408G>T (p.Gly26470Ter)
c.79267G>T (p.Gly26423Ter)
c.105310G>T (p.Gly35104Ter)
c.100708G>T (p.Gly33570Ter)
c.100705G>T (p.Gly33569Ter)
c.97747G>T (p.Gly32583Ter)
c.79363G>T (p.Gly26455Ter)
c.100858G>T (p.Gly33620Ter)
c.100855G>T (p.Gly33619Ter)
c.100288G>T (p.Gly33430Ter)
c.97630G>T (p.Gly32544Ter)
c.97549G>T (p.Gly32517Ter)
c.79312G>T (p.Gly26438Ter)
c.69166G>T (p.Gly23056Ter)
2g.178530074C=CA1310511439TTN,TTN-AS1c.98713G= (p.Gly32905=)
c.79798G= (p.Gly26600=)
c.79597G= (p.Gly26533=)
c.79222G= (p.Gly26408=)
c.106417G= (p.Gly35473=)
c.101494G= (p.Gly33832=)
n.446+6438C=
n.220-5658C=
c.105514G= (p.Gly35172=)
c.79408G= (p.Gly26470=)
c.79267G= (p.Gly26423=)
c.105310G= (p.Gly35104=)
c.100708G= (p.Gly33570=)
c.100705G= (p.Gly33569=)
c.97747G= (p.Gly32583=)
c.79363G= (p.Gly26455=)
c.100858G= (p.Gly33620=)
c.100855G= (p.Gly33619=)
c.100288G= (p.Gly33430=)
c.97630G= (p.Gly32544=)
c.97549G= (p.Gly32517=)
c.79312G= (p.Gly26438=)
c.69166G= (p.Gly23056=)
2g.178530074C>GCA349405403TTN,TTN-AS1c.98713G>C (p.Gly32905Arg)
c.79798G>C (p.Gly26600Arg)
c.79597G>C (p.Gly26533Arg)
c.79222G>C (p.Gly26408Arg)
c.106417G>C (p.Gly35473Arg)
c.101494G>C (p.Gly33832Arg)
n.446+6438C>G
n.220-5658C>G
c.105514G>C (p.Gly35172Arg)
c.79408G>C (p.Gly26470Arg)
c.79267G>C (p.Gly26423Arg)
c.105310G>C (p.Gly35104Arg)
c.100708G>C (p.Gly33570Arg)
c.100705G>C (p.Gly33569Arg)
c.97747G>C (p.Gly32583Arg)
c.79363G>C (p.Gly26455Arg)
c.100858G>C (p.Gly33620Arg)
c.100855G>C (p.Gly33619Arg)
c.100288G>C (p.Gly33430Arg)
c.97630G>C (p.Gly32544Arg)
c.97549G>C (p.Gly32517Arg)
c.79312G>C (p.Gly26438Arg)
c.69166G>C (p.Gly23056Arg)
2g.178530074C>TCA1985109TTN,TTN-AS1c.98713G>A (p.Gly32905Arg)
c.79798G>A (p.Gly26600Arg)
c.79597G>A (p.Gly26533Arg)
c.79222G>A (p.Gly26408Arg)
c.106417G>A (p.Gly35473Arg)
c.101494G>A (p.Gly33832Arg)
n.446+6438C>T
n.220-5658C>T
c.105514G>A (p.Gly35172Arg)
c.79408G>A (p.Gly26470Arg)
c.79267G>A (p.Gly26423Arg)
c.105310G>A (p.Gly35104Arg)
c.100708G>A (p.Gly33570Arg)
c.100705G>A (p.Gly33569Arg)
c.97747G>A (p.Gly32583Arg)
c.79363G>A (p.Gly26455Arg)
c.100858G>A (p.Gly33620Arg)
c.100855G>A (p.Gly33619Arg)
c.100288G>A (p.Gly33430Arg)
c.97630G>A (p.Gly32544Arg)
c.97549G>A (p.Gly32517Arg)
c.79312G>A (p.Gly26438Arg)
c.69166G>A (p.Gly23056Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178530075C>ACA349405407TTN,TTN-AS1c.98712G>T (p.Lys32904Asn)
c.79797G>T (p.Lys26599Asn)
c.79596G>T (p.Lys26532Asn)
c.79221G>T (p.Lys26407Asn)
c.106416G>T (p.Lys35472Asn)
c.101493G>T (p.Lys33831Asn)
n.446+6439C>A
n.220-5657C>A
c.105513G>T (p.Lys35171Asn)
c.79407G>T (p.Lys26469Asn)
c.79266G>T (p.Lys26422Asn)
c.105309G>T (p.Lys35103Asn)
c.100707G>T (p.Lys33569Asn)
c.100704G>T (p.Lys33568Asn)
c.97746G>T (p.Lys32582Asn)
c.79362G>T (p.Lys26454Asn)
c.100857G>T (p.Lys33619Asn)
c.100854G>T (p.Lys33618Asn)
c.100287G>T (p.Lys33429Asn)
c.97629G>T (p.Lys32543Asn)
c.97548G>T (p.Lys32516Asn)
c.79311G>T (p.Lys26437Asn)
c.69165G>T (p.Lys23055Asn)
2g.178530075C=CA1310511444TTN,TTN-AS1c.98712G= (p.Lys32904=)
c.79797G= (p.Lys26599=)
c.79596G= (p.Lys26532=)
c.79221G= (p.Lys26407=)
c.106416G= (p.Lys35472=)
c.101493G= (p.Lys33831=)
n.446+6439C=
n.220-5657C=
c.105513G= (p.Lys35171=)
c.79407G= (p.Lys26469=)
c.79266G= (p.Lys26422=)
c.105309G= (p.Lys35103=)
c.100707G= (p.Lys33569=)
c.100704G= (p.Lys33568=)
c.97746G= (p.Lys32582=)
c.79362G= (p.Lys26454=)
c.100857G= (p.Lys33619=)
c.100854G= (p.Lys33618=)
c.100287G= (p.Lys33429=)
c.97629G= (p.Lys32543=)
c.97548G= (p.Lys32516=)
c.79311G= (p.Lys26437=)
c.69165G= (p.Lys23055=)
2g.178530075C>GCA349405411TTN,TTN-AS1c.98712G>C (p.Lys32904Asn)
c.79797G>C (p.Lys26599Asn)
c.79596G>C (p.Lys26532Asn)
c.79221G>C (p.Lys26407Asn)
c.106416G>C (p.Lys35472Asn)
c.101493G>C (p.Lys33831Asn)
n.446+6439C>G
n.220-5657C>G
c.105513G>C (p.Lys35171Asn)
c.79407G>C (p.Lys26469Asn)
c.79266G>C (p.Lys26422Asn)
c.105309G>C (p.Lys35103Asn)
c.100707G>C (p.Lys33569Asn)
c.100704G>C (p.Lys33568Asn)
c.97746G>C (p.Lys32582Asn)
c.79362G>C (p.Lys26454Asn)
c.100857G>C (p.Lys33619Asn)
c.100854G>C (p.Lys33618Asn)
c.100287G>C (p.Lys33429Asn)
c.97629G>C (p.Lys32543Asn)
c.97548G>C (p.Lys32516Asn)
c.79311G>C (p.Lys26437Asn)
c.69165G>C (p.Lys23055Asn)
 dbSNP gnomAD v2 gnomAD v4
2g.178530075C>TCA1985110TTN,TTN-AS1c.98712G>A (p.Lys32904=)
c.79797G>A (p.Lys26599=)
c.79596G>A (p.Lys26532=)
c.79221G>A (p.Lys26407=)
c.106416G>A (p.Lys35472=)
c.101493G>A (p.Lys33831=)
n.446+6439C>T
n.220-5657C>T
c.105513G>A (p.Lys35171=)
c.79407G>A (p.Lys26469=)
c.79266G>A (p.Lys26422=)
c.105309G>A (p.Lys35103=)
c.100707G>A (p.Lys33569=)
c.100704G>A (p.Lys33568=)
c.97746G>A (p.Lys32582=)
c.79362G>A (p.Lys26454=)
c.100857G>A (p.Lys33619=)
c.100854G>A (p.Lys33618=)
c.100287G>A (p.Lys33429=)
c.97629G>A (p.Lys32543=)
c.97548G>A (p.Lys32516=)
c.79311G>A (p.Lys26437=)
c.69165G>A (p.Lys23055=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178530076T>ACA349405417TTN,TTN-AS1c.98711A>T (p.Lys32904Met)
c.79796A>T (p.Lys26599Met)
c.79595A>T (p.Lys26532Met)
c.79220A>T (p.Lys26407Met)
c.106415A>T (p.Lys35472Met)
c.101492A>T (p.Lys33831Met)
n.446+6440T>A
n.220-5656T>A
c.105512A>T (p.Lys35171Met)
c.79406A>T (p.Lys26469Met)
c.79265A>T (p.Lys26422Met)
c.105308A>T (p.Lys35103Met)
c.100706A>T (p.Lys33569Met)
c.100703A>T (p.Lys33568Met)
c.97745A>T (p.Lys32582Met)
c.79361A>T (p.Lys26454Met)
c.100856A>T (p.Lys33619Met)
c.100853A>T (p.Lys33618Met)
c.100286A>T (p.Lys33429Met)
c.97628A>T (p.Lys32543Met)
c.97547A>T (p.Lys32516Met)
c.79310A>T (p.Lys26437Met)
c.69164A>T (p.Lys23055Met)
2g.178530076T>CCA349405420TTN,TTN-AS1c.98711A>G (p.Lys32904Arg)
c.79796A>G (p.Lys26599Arg)
c.79595A>G (p.Lys26532Arg)
c.79220A>G (p.Lys26407Arg)
c.106415A>G (p.Lys35472Arg)
c.101492A>G (p.Lys33831Arg)
n.446+6440T>C
n.220-5656T>C
c.105512A>G (p.Lys35171Arg)
c.79406A>G (p.Lys26469Arg)
c.79265A>G (p.Lys26422Arg)
c.105308A>G (p.Lys35103Arg)
c.100706A>G (p.Lys33569Arg)
c.100703A>G (p.Lys33568Arg)
c.97745A>G (p.Lys32582Arg)
c.79361A>G (p.Lys26454Arg)
c.100856A>G (p.Lys33619Arg)
c.100853A>G (p.Lys33618Arg)
c.100286A>G (p.Lys33429Arg)
c.97628A>G (p.Lys32543Arg)
c.97547A>G (p.Lys32516Arg)
c.79310A>G (p.Lys26437Arg)
c.69164A>G (p.Lys23055Arg)
 dbSNP
2g.178530076T>GCA349405424TTN,TTN-AS1c.98711A>C (p.Lys32904Thr)
c.79796A>C (p.Lys26599Thr)
c.79595A>C (p.Lys26532Thr)
c.79220A>C (p.Lys26407Thr)
c.106415A>C (p.Lys35472Thr)
c.101492A>C (p.Lys33831Thr)
n.446+6440T>G
n.220-5656T>G
c.105512A>C (p.Lys35171Thr)
c.79406A>C (p.Lys26469Thr)
c.79265A>C (p.Lys26422Thr)
c.105308A>C (p.Lys35103Thr)
c.100706A>C (p.Lys33569Thr)
c.100703A>C (p.Lys33568Thr)
c.97745A>C (p.Lys32582Thr)
c.79361A>C (p.Lys26454Thr)
c.100856A>C (p.Lys33619Thr)
c.100853A>C (p.Lys33618Thr)
c.100286A>C (p.Lys33429Thr)
c.97628A>C (p.Lys32543Thr)
c.97547A>C (p.Lys32516Thr)
c.79310A>C (p.Lys26437Thr)
c.69164A>C (p.Lys23055Thr)
 ClinVar dbSNP
2g.178530076T=CA1310511449TTN,TTN-AS1c.98711A= (p.Lys32904=)
c.79796A= (p.Lys26599=)
c.79595A= (p.Lys26532=)
c.79220A= (p.Lys26407=)
c.106415A= (p.Lys35472=)
c.101492A= (p.Lys33831=)
n.446+6440T=
n.220-5656T=
c.105512A= (p.Lys35171=)
c.79406A= (p.Lys26469=)
c.79265A= (p.Lys26422=)
c.105308A= (p.Lys35103=)
c.100706A= (p.Lys33569=)
c.100703A= (p.Lys33568=)
c.97745A= (p.Lys32582=)
c.79361A= (p.Lys26454=)
c.100856A= (p.Lys33619=)
c.100853A= (p.Lys33618=)
c.100286A= (p.Lys33429=)
c.97628A= (p.Lys32543=)
c.97547A= (p.Lys32516=)
c.79310A= (p.Lys26437=)
c.69164A= (p.Lys23055=)
2g.178530077T>ACA349405431TTN,TTN-AS1c.98710A>T (p.Lys32904Ter)
c.79795A>T (p.Lys26599Ter)
c.79594A>T (p.Lys26532Ter)
c.79219A>T (p.Lys26407Ter)
c.106414A>T (p.Lys35472Ter)
c.101491A>T (p.Lys33831Ter)
n.446+6441T>A
n.220-5655T>A
c.105511A>T (p.Lys35171Ter)
c.79405A>T (p.Lys26469Ter)
c.79264A>T (p.Lys26422Ter)
c.105307A>T (p.Lys35103Ter)
c.100705A>T (p.Lys33569Ter)
c.100702A>T (p.Lys33568Ter)
c.97744A>T (p.Lys32582Ter)
c.79360A>T (p.Lys26454Ter)
c.100855A>T (p.Lys33619Ter)
c.100852A>T (p.Lys33618Ter)
c.100285A>T (p.Lys33429Ter)
c.97627A>T (p.Lys32543Ter)
c.97546A>T (p.Lys32516Ter)
c.79309A>T (p.Lys26437Ter)
c.69163A>T (p.Lys23055Ter)
2g.178530077T>CCA349405433TTN,TTN-AS1c.98710A>G (p.Lys32904Glu)
c.79795A>G (p.Lys26599Glu)
c.79594A>G (p.Lys26532Glu)
c.79219A>G (p.Lys26407Glu)
c.106414A>G (p.Lys35472Glu)
c.101491A>G (p.Lys33831Glu)
n.446+6441T>C
n.220-5655T>C
c.105511A>G (p.Lys35171Glu)
c.79405A>G (p.Lys26469Glu)
c.79264A>G (p.Lys26422Glu)
c.105307A>G (p.Lys35103Glu)
c.100705A>G (p.Lys33569Glu)
c.100702A>G (p.Lys33568Glu)
c.97744A>G (p.Lys32582Glu)
c.79360A>G (p.Lys26454Glu)
c.100855A>G (p.Lys33619Glu)
c.100852A>G (p.Lys33618Glu)
c.100285A>G (p.Lys33429Glu)
c.97627A>G (p.Lys32543Glu)
c.97546A>G (p.Lys32516Glu)
c.79309A>G (p.Lys26437Glu)
c.69163A>G (p.Lys23055Glu)
2g.178530077T>GCA349405426TTN,TTN-AS1c.98710A>C (p.Lys32904Gln)
c.79795A>C (p.Lys26599Gln)
c.79594A>C (p.Lys26532Gln)
c.79219A>C (p.Lys26407Gln)
c.106414A>C (p.Lys35472Gln)
c.101491A>C (p.Lys33831Gln)
n.446+6441T>G
n.220-5655T>G
c.105511A>C (p.Lys35171Gln)
c.79405A>C (p.Lys26469Gln)
c.79264A>C (p.Lys26422Gln)
c.105307A>C (p.Lys35103Gln)
c.100705A>C (p.Lys33569Gln)
c.100702A>C (p.Lys33568Gln)
c.97744A>C (p.Lys32582Gln)
c.79360A>C (p.Lys26454Gln)
c.100855A>C (p.Lys33619Gln)
c.100852A>C (p.Lys33618Gln)
c.100285A>C (p.Lys33429Gln)
c.97627A>C (p.Lys32543Gln)
c.97546A>C (p.Lys32516Gln)
c.79309A>C (p.Lys26437Gln)
c.69163A>C (p.Lys23055Gln)
2g.178530078G>ACA430093965TTN,TTN-AS1c.98709C>T (p.Asp32903=)
c.79794C>T (p.Asp26598=)
c.79593C>T (p.Asp26531=)
c.79218C>T (p.Asp26406=)
c.106413C>T (p.Asp35471=)
c.101490C>T (p.Asp33830=)
n.446+6442G>A
n.220-5654G>A
c.105510C>T (p.Asp35170=)
c.79404C>T (p.Asp26468=)
c.79263C>T (p.Asp26421=)
c.105306C>T (p.Asp35102=)
c.100704C>T (p.Asp33568=)
c.100701C>T (p.Asp33567=)
c.97743C>T (p.Asp32581=)
c.79359C>T (p.Asp26453=)
c.100854C>T (p.Asp33618=)
c.100851C>T (p.Asp33617=)
c.100284C>T (p.Asp33428=)
c.97626C>T (p.Asp32542=)
c.97545C>T (p.Asp32515=)
c.79308C>T (p.Asp26436=)
c.69162C>T (p.Asp23054=)
2g.178530078G>CCA349405436TTN,TTN-AS1c.98709C>G (p.Asp32903Glu)
c.79794C>G (p.Asp26598Glu)
c.79593C>G (p.Asp26531Glu)
c.79218C>G (p.Asp26406Glu)
c.106413C>G (p.Asp35471Glu)
c.101490C>G (p.Asp33830Glu)
n.446+6442G>C
n.220-5654G>C
c.105510C>G (p.Asp35170Glu)
c.79404C>G (p.Asp26468Glu)
c.79263C>G (p.Asp26421Glu)
c.105306C>G (p.Asp35102Glu)
c.100704C>G (p.Asp33568Glu)
c.100701C>G (p.Asp33567Glu)
c.97743C>G (p.Asp32581Glu)
c.79359C>G (p.Asp26453Glu)
c.100854C>G (p.Asp33618Glu)
c.100851C>G (p.Asp33617Glu)
c.100284C>G (p.Asp33428Glu)
c.97626C>G (p.Asp32542Glu)
c.97545C>G (p.Asp32515Glu)
c.79308C>G (p.Asp26436Glu)
c.69162C>G (p.Asp23054Glu)
2g.178530078G>TCA349405439TTN,TTN-AS1c.98709C>A (p.Asp32903Glu)
c.79794C>A (p.Asp26598Glu)
c.79593C>A (p.Asp26531Glu)
c.79218C>A (p.Asp26406Glu)
c.106413C>A (p.Asp35471Glu)
c.101490C>A (p.Asp33830Glu)
n.446+6442G>T
n.220-5654G>T
c.105510C>A (p.Asp35170Glu)
c.79404C>A (p.Asp26468Glu)
c.79263C>A (p.Asp26421Glu)
c.105306C>A (p.Asp35102Glu)
c.100704C>A (p.Asp33568Glu)
c.100701C>A (p.Asp33567Glu)
c.97743C>A (p.Asp32581Glu)
c.79359C>A (p.Asp26453Glu)
c.100854C>A (p.Asp33618Glu)
c.100851C>A (p.Asp33617Glu)
c.100284C>A (p.Asp33428Glu)
c.97626C>A (p.Asp32542Glu)
c.97545C>A (p.Asp32515Glu)
c.79308C>A (p.Asp26436Glu)
c.69162C>A (p.Asp23054Glu)
2g.178530079T>ACA349405442TTN,TTN-AS1c.98708A>T (p.Asp32903Val)
c.79793A>T (p.Asp26598Val)
c.79592A>T (p.Asp26531Val)
c.79217A>T (p.Asp26406Val)
c.106412A>T (p.Asp35471Val)
c.101489A>T (p.Asp33830Val)
n.446+6443T>A
n.220-5653T>A
c.105509A>T (p.Asp35170Val)
c.79403A>T (p.Asp26468Val)
c.79262A>T (p.Asp26421Val)
c.105305A>T (p.Asp35102Val)
c.100703A>T (p.Asp33568Val)
c.100700A>T (p.Asp33567Val)
c.97742A>T (p.Asp32581Val)
c.79358A>T (p.Asp26453Val)
c.100853A>T (p.Asp33618Val)
c.100850A>T (p.Asp33617Val)
c.100283A>T (p.Asp33428Val)
c.97625A>T (p.Asp32542Val)
c.97544A>T (p.Asp32515Val)
c.79307A>T (p.Asp26436Val)
c.69161A>T (p.Asp23054Val)
2g.178530079T>CCA349405444TTN,TTN-AS1c.98708A>G (p.Asp32903Gly)
c.79793A>G (p.Asp26598Gly)
c.79592A>G (p.Asp26531Gly)
c.79217A>G (p.Asp26406Gly)
c.106412A>G (p.Asp35471Gly)
c.101489A>G (p.Asp33830Gly)
n.446+6443T>C
n.220-5653T>C
c.105509A>G (p.Asp35170Gly)
c.79403A>G (p.Asp26468Gly)
c.79262A>G (p.Asp26421Gly)
c.105305A>G (p.Asp35102Gly)
c.100703A>G (p.Asp33568Gly)
c.100700A>G (p.Asp33567Gly)
c.97742A>G (p.Asp32581Gly)
c.79358A>G (p.Asp26453Gly)
c.100853A>G (p.Asp33618Gly)
c.100850A>G (p.Asp33617Gly)
c.100283A>G (p.Asp33428Gly)
c.97625A>G (p.Asp32542Gly)
c.97544A>G (p.Asp32515Gly)
c.79307A>G (p.Asp26436Gly)
c.69161A>G (p.Asp23054Gly)
 dbSNP
2g.178530079T>GCA349405446TTN,TTN-AS1c.98708A>C (p.Asp32903Ala)
c.79793A>C (p.Asp26598Ala)
c.79592A>C (p.Asp26531Ala)
c.79217A>C (p.Asp26406Ala)
c.106412A>C (p.Asp35471Ala)
c.101489A>C (p.Asp33830Ala)
n.446+6443T>G
n.220-5653T>G
c.105509A>C (p.Asp35170Ala)
c.79403A>C (p.Asp26468Ala)
c.79262A>C (p.Asp26421Ala)
c.105305A>C (p.Asp35102Ala)
c.100703A>C (p.Asp33568Ala)
c.100700A>C (p.Asp33567Ala)
c.97742A>C (p.Asp32581Ala)
c.79358A>C (p.Asp26453Ala)
c.100853A>C (p.Asp33618Ala)
c.100850A>C (p.Asp33617Ala)
c.100283A>C (p.Asp33428Ala)
c.97625A>C (p.Asp32542Ala)
c.97544A>C (p.Asp32515Ala)
c.79307A>C (p.Asp26436Ala)
c.69161A>C (p.Asp23054Ala)
2g.178530079T=CA1310511453TTN,TTN-AS1c.98708A= (p.Asp32903=)
c.79793A= (p.Asp26598=)
c.79592A= (p.Asp26531=)
c.79217A= (p.Asp26406=)
c.106412A= (p.Asp35471=)
c.101489A= (p.Asp33830=)
n.446+6443T=
n.220-5653T=
c.105509A= (p.Asp35170=)
c.79403A= (p.Asp26468=)
c.79262A= (p.Asp26421=)
c.105305A= (p.Asp35102=)
c.100703A= (p.Asp33568=)
c.100700A= (p.Asp33567=)
c.97742A= (p.Asp32581=)
c.79358A= (p.Asp26453=)
c.100853A= (p.Asp33618=)
c.100850A= (p.Asp33617=)
c.100283A= (p.Asp33428=)
c.97625A= (p.Asp32542=)
c.97544A= (p.Asp32515=)
c.79307A= (p.Asp26436=)
c.69161A= (p.Asp23054=)
2g.178530080C>ACA349405450TTN,TTN-AS1c.98707G>T (p.Asp32903Tyr)
c.79792G>T (p.Asp26598Tyr)
c.79591G>T (p.Asp26531Tyr)
c.79216G>T (p.Asp26406Tyr)
c.106411G>T (p.Asp35471Tyr)
c.101488G>T (p.Asp33830Tyr)
n.446+6444C>A
n.220-5652C>A
c.105508G>T (p.Asp35170Tyr)
c.79402G>T (p.Asp26468Tyr)
c.79261G>T (p.Asp26421Tyr)
c.105304G>T (p.Asp35102Tyr)
c.100702G>T (p.Asp33568Tyr)
c.100699G>T (p.Asp33567Tyr)
c.97741G>T (p.Asp32581Tyr)
c.79357G>T (p.Asp26453Tyr)
c.100852G>T (p.Asp33618Tyr)
c.100849G>T (p.Asp33617Tyr)
c.100282G>T (p.Asp33428Tyr)
c.97624G>T (p.Asp32542Tyr)
c.97543G>T (p.Asp32515Tyr)
c.79306G>T (p.Asp26436Tyr)
c.69160G>T (p.Asp23054Tyr)
2g.178530080C>GCA349405451TTN,TTN-AS1c.98707G>C (p.Asp32903His)
c.79792G>C (p.Asp26598His)
c.79591G>C (p.Asp26531His)
c.79216G>C (p.Asp26406His)
c.106411G>C (p.Asp35471His)
c.101488G>C (p.Asp33830His)
n.446+6444C>G
n.220-5652C>G
c.105508G>C (p.Asp35170His)
c.79402G>C (p.Asp26468His)
c.79261G>C (p.Asp26421His)
c.105304G>C (p.Asp35102His)
c.100702G>C (p.Asp33568His)
c.100699G>C (p.Asp33567His)
c.97741G>C (p.Asp32581His)
c.79357G>C (p.Asp26453His)
c.100852G>C (p.Asp33618His)
c.100849G>C (p.Asp33617His)
c.100282G>C (p.Asp33428His)
c.97624G>C (p.Asp32542His)
c.97543G>C (p.Asp32515His)
c.79306G>C (p.Asp26436His)
c.69160G>C (p.Asp23054His)
 COSMIC COSMIC COSMIC COSMIC
2g.178530080C>TCA349405453TTN,TTN-AS1c.98707G>A (p.Asp32903Asn)
c.79792G>A (p.Asp26598Asn)
c.79591G>A (p.Asp26531Asn)
c.79216G>A (p.Asp26406Asn)
c.106411G>A (p.Asp35471Asn)
c.101488G>A (p.Asp33830Asn)
n.446+6444C>T
n.220-5652C>T
c.105508G>A (p.Asp35170Asn)
c.79402G>A (p.Asp26468Asn)
c.79261G>A (p.Asp26421Asn)
c.105304G>A (p.Asp35102Asn)
c.100702G>A (p.Asp33568Asn)
c.100699G>A (p.Asp33567Asn)
c.97741G>A (p.Asp32581Asn)
c.79357G>A (p.Asp26453Asn)
c.100852G>A (p.Asp33618Asn)
c.100849G>A (p.Asp33617Asn)
c.100282G>A (p.Asp33428Asn)
c.97624G>A (p.Asp32542Asn)
c.97543G>A (p.Asp32515Asn)
c.79306G>A (p.Asp26436Asn)
c.69160G>A (p.Asp23054Asn)
 gnomAD v4
2g.178530081T>ACA349405455TTN,TTN-AS1c.98706A>T (p.Glu32902Asp)
c.79791A>T (p.Glu26597Asp)
c.79590A>T (p.Glu26530Asp)
c.79215A>T (p.Glu26405Asp)
c.106410A>T (p.Glu35470Asp)
c.101487A>T (p.Glu33829Asp)
n.446+6445T>A
n.220-5651T>A
c.105507A>T (p.Glu35169Asp)
c.79401A>T (p.Glu26467Asp)
c.79260A>T (p.Glu26420Asp)
c.105303A>T (p.Glu35101Asp)
c.100701A>T (p.Glu33567Asp)
c.100698A>T (p.Glu33566Asp)
c.97740A>T (p.Glu32580Asp)
c.79356A>T (p.Glu26452Asp)
c.100851A>T (p.Glu33617Asp)
c.100848A>T (p.Glu33616Asp)
c.100281A>T (p.Glu33427Asp)
c.97623A>T (p.Glu32541Asp)
c.97542A>T (p.Glu32514Asp)
c.79305A>T (p.Glu26435Asp)
c.69159A>T (p.Glu23053Asp)
2g.178530081T>CCA430093983TTN,TTN-AS1c.98706A>G (p.Glu32902=)
c.79791A>G (p.Glu26597=)
c.79590A>G (p.Glu26530=)
c.79215A>G (p.Glu26405=)
c.106410A>G (p.Glu35470=)
c.101487A>G (p.Glu33829=)
n.446+6445T>C
n.220-5651T>C
c.105507A>G (p.Glu35169=)
c.79401A>G (p.Glu26467=)
c.79260A>G (p.Glu26420=)
c.105303A>G (p.Glu35101=)
c.100701A>G (p.Glu33567=)
c.100698A>G (p.Glu33566=)
c.97740A>G (p.Glu32580=)
c.79356A>G (p.Glu26452=)
c.100851A>G (p.Glu33617=)
c.100848A>G (p.Glu33616=)
c.100281A>G (p.Glu33427=)
c.97623A>G (p.Glu32541=)
c.97542A>G (p.Glu32514=)
c.79305A>G (p.Glu26435=)
c.69159A>G (p.Glu23053=)
2g.178530081T>GCA349405457TTN,TTN-AS1c.98706A>C (p.Glu32902Asp)
c.79791A>C (p.Glu26597Asp)
c.79590A>C (p.Glu26530Asp)
c.79215A>C (p.Glu26405Asp)
c.106410A>C (p.Glu35470Asp)
c.101487A>C (p.Glu33829Asp)
n.446+6445T>G
n.220-5651T>G
c.105507A>C (p.Glu35169Asp)
c.79401A>C (p.Glu26467Asp)
c.79260A>C (p.Glu26420Asp)
c.105303A>C (p.Glu35101Asp)
c.100701A>C (p.Glu33567Asp)
c.100698A>C (p.Glu33566Asp)
c.97740A>C (p.Glu32580Asp)
c.79356A>C (p.Glu26452Asp)
c.100851A>C (p.Glu33617Asp)
c.100848A>C (p.Glu33616Asp)
c.100281A>C (p.Glu33427Asp)
c.97623A>C (p.Glu32541Asp)
c.97542A>C (p.Glu32514Asp)
c.79305A>C (p.Glu26435Asp)
c.69159A>C (p.Glu23053Asp)
2g.178530082T>ACA349405462TTN,TTN-AS1c.98705A>T (p.Glu32902Val)
c.79790A>T (p.Glu26597Val)
c.79589A>T (p.Glu26530Val)
c.79214A>T (p.Glu26405Val)
c.106409A>T (p.Glu35470Val)
c.101486A>T (p.Glu33829Val)
n.446+6446T>A
n.220-5650T>A
c.105506A>T (p.Glu35169Val)
c.79400A>T (p.Glu26467Val)
c.79259A>T (p.Glu26420Val)
c.105302A>T (p.Glu35101Val)
c.100700A>T (p.Glu33567Val)
c.100697A>T (p.Glu33566Val)
c.97739A>T (p.Glu32580Val)
c.79355A>T (p.Glu26452Val)
c.100850A>T (p.Glu33617Val)
c.100847A>T (p.Glu33616Val)
c.100280A>T (p.Glu33427Val)
c.97622A>T (p.Glu32541Val)
c.97541A>T (p.Glu32514Val)
c.79304A>T (p.Glu26435Val)
c.69158A>T (p.Glu23053Val)
2g.178530082T>CCA349405463TTN,TTN-AS1c.98705A>G (p.Glu32902Gly)
c.79790A>G (p.Glu26597Gly)
c.79589A>G (p.Glu26530Gly)
c.79214A>G (p.Glu26405Gly)
c.106409A>G (p.Glu35470Gly)
c.101486A>G (p.Glu33829Gly)
n.446+6446T>C
n.220-5650T>C
c.105506A>G (p.Glu35169Gly)
c.79400A>G (p.Glu26467Gly)
c.79259A>G (p.Glu26420Gly)
c.105302A>G (p.Glu35101Gly)
c.100700A>G (p.Glu33567Gly)
c.100697A>G (p.Glu33566Gly)
c.97739A>G (p.Glu32580Gly)
c.79355A>G (p.Glu26452Gly)
c.100850A>G (p.Glu33617Gly)
c.100847A>G (p.Glu33616Gly)
c.100280A>G (p.Glu33427Gly)
c.97622A>G (p.Glu32541Gly)
c.97541A>G (p.Glu32514Gly)
c.79304A>G (p.Glu26435Gly)
c.69158A>G (p.Glu23053Gly)
2g.178530082T>GCA349405465TTN,TTN-AS1c.98705A>C (p.Glu32902Ala)
c.79790A>C (p.Glu26597Ala)
c.79589A>C (p.Glu26530Ala)
c.79214A>C (p.Glu26405Ala)
c.106409A>C (p.Glu35470Ala)
c.101486A>C (p.Glu33829Ala)
n.446+6446T>G
n.220-5650T>G
c.105506A>C (p.Glu35169Ala)
c.79400A>C (p.Glu26467Ala)
c.79259A>C (p.Glu26420Ala)
c.105302A>C (p.Glu35101Ala)
c.100700A>C (p.Glu33567Ala)
c.100697A>C (p.Glu33566Ala)
c.97739A>C (p.Glu32580Ala)
c.79355A>C (p.Glu26452Ala)
c.100850A>C (p.Glu33617Ala)
c.100847A>C (p.Glu33616Ala)
c.100280A>C (p.Glu33427Ala)
c.97622A>C (p.Glu32541Ala)
c.97541A>C (p.Glu32514Ala)
c.79304A>C (p.Glu26435Ala)
c.69158A>C (p.Glu23053Ala)
2g.178530083C>ACA349405473TTN,TTN-AS1c.98704G>T (p.Glu32902Ter)
c.79789G>T (p.Glu26597Ter)
c.79588G>T (p.Glu26530Ter)
c.79213G>T (p.Glu26405Ter)
c.106408G>T (p.Glu35470Ter)
c.101485G>T (p.Glu33829Ter)
n.446+6447C>A
n.220-5649C>A
c.105505G>T (p.Glu35169Ter)
c.79399G>T (p.Glu26467Ter)
c.79258G>T (p.Glu26420Ter)
c.105301G>T (p.Glu35101Ter)
c.100699G>T (p.Glu33567Ter)
c.100696G>T (p.Glu33566Ter)
c.97738G>T (p.Glu32580Ter)
c.79354G>T (p.Glu26452Ter)
c.100849G>T (p.Glu33617Ter)
c.100846G>T (p.Glu33616Ter)
c.100279G>T (p.Glu33427Ter)
c.97621G>T (p.Glu32541Ter)
c.97540G>T (p.Glu32514Ter)
c.79303G>T (p.Glu26435Ter)
c.69157G>T (p.Glu23053Ter)
2g.178530083C=CA1310511455TTN,TTN-AS1c.98704G= (p.Glu32902=)
c.79789G= (p.Glu26597=)
c.79588G= (p.Glu26530=)
c.79213G= (p.Glu26405=)
c.106408G= (p.Glu35470=)
c.101485G= (p.Glu33829=)
n.446+6447C=
n.220-5649C=
c.105505G= (p.Glu35169=)
c.79399G= (p.Glu26467=)
c.79258G= (p.Glu26420=)
c.105301G= (p.Glu35101=)
c.100699G= (p.Glu33567=)
c.100696G= (p.Glu33566=)
c.97738G= (p.Glu32580=)
c.79354G= (p.Glu26452=)
c.100849G= (p.Glu33617=)
c.100846G= (p.Glu33616=)
c.100279G= (p.Glu33427=)
c.97621G= (p.Glu32541=)
c.97540G= (p.Glu32514=)
c.79303G= (p.Glu26435=)
c.69157G= (p.Glu23053=)
2g.178530083C>GCA349405472TTN,TTN-AS1c.98704G>C (p.Glu32902Gln)
c.79789G>C (p.Glu26597Gln)
c.79588G>C (p.Glu26530Gln)
c.79213G>C (p.Glu26405Gln)
c.106408G>C (p.Glu35470Gln)
c.101485G>C (p.Glu33829Gln)
n.446+6447C>G
n.220-5649C>G
c.105505G>C (p.Glu35169Gln)
c.79399G>C (p.Glu26467Gln)
c.79258G>C (p.Glu26420Gln)
c.105301G>C (p.Glu35101Gln)
c.100699G>C (p.Glu33567Gln)
c.100696G>C (p.Glu33566Gln)
c.97738G>C (p.Glu32580Gln)
c.79354G>C (p.Glu26452Gln)
c.100849G>C (p.Glu33617Gln)
c.100846G>C (p.Glu33616Gln)
c.100279G>C (p.Glu33427Gln)
c.97621G>C (p.Glu32541Gln)
c.97540G>C (p.Glu32514Gln)
c.79303G>C (p.Glu26435Gln)
c.69157G>C (p.Glu23053Gln)
2g.178530083C>TCA349405470TTN,TTN-AS1c.98704G>A (p.Glu32902Lys)
c.79789G>A (p.Glu26597Lys)
c.79588G>A (p.Glu26530Lys)
c.79213G>A (p.Glu26405Lys)
c.106408G>A (p.Glu35470Lys)
c.101485G>A (p.Glu33829Lys)
n.446+6447C>T
n.220-5649C>T
c.105505G>A (p.Glu35169Lys)
c.79399G>A (p.Glu26467Lys)
c.79258G>A (p.Glu26420Lys)
c.105301G>A (p.Glu35101Lys)
c.100699G>A (p.Glu33567Lys)
c.100696G>A (p.Glu33566Lys)
c.97738G>A (p.Glu32580Lys)
c.79354G>A (p.Glu26452Lys)
c.100849G>A (p.Glu33617Lys)
c.100846G>A (p.Glu33616Lys)
c.100279G>A (p.Glu33427Lys)
c.97621G>A (p.Glu32541Lys)
c.97540G>A (p.Glu32514Lys)
c.79303G>A (p.Glu26435Lys)
c.69157G>A (p.Glu23053Lys)
2g.178530083_178530084delCA2586970727TTN,TTN-AS1c.98703_98704del (p.Glu32902ArgfsTer11)
c.79788_79789del (p.Glu26597ArgfsTer11)
c.79587_79588del (p.Glu26530ArgfsTer11)
c.79212_79213del (p.Glu26405ArgfsTer11)
c.106407_106408del (p.Glu35470ArgfsTer11)
c.101484_101485del (p.Glu33829ArgfsTer11)
n.446+6447_446+6448del
n.220-5649_220-5648del
c.105504_105505del (p.Glu35169ArgfsTer11)
c.79398_79399del (p.Glu26467ArgfsTer11)
c.79257_79258del (p.Glu26420ArgfsTer11)
c.105300_105301del (p.Glu35101ArgfsTer11)
c.100698_100699del (p.Glu33567ArgfsTer11)
c.100695_100696del (p.Glu33566ArgfsTer11)
c.97737_97738del (p.Glu32580ArgfsTer11)
c.79353_79354del (p.Glu26452ArgfsTer11)
c.100848_100849del (p.Glu33617ArgfsTer11)
c.100845_100846del (p.Glu33616ArgfsTer11)
c.100278_100279del (p.Glu33427ArgfsTer11)
c.97620_97621del (p.Glu32541ArgfsTer11)
c.97539_97540del (p.Glu32514ArgfsTer11)
c.79302_79303del (p.Glu26435ArgfsTer11)
c.69156_69157del (p.Glu23053ArgfsTer11)
2g.178530083_178530084insCACA1310511457TTN,TTN-AS1c.98703_98704insTG (p.Glu32902TrpfsTer9)
c.79788_79789insTG (p.Glu26597TrpfsTer9)
c.79587_79588insTG (p.Glu26530TrpfsTer9)
c.79212_79213insTG (p.Glu26405TrpfsTer9)
c.106407_106408insTG (p.Glu35470TrpfsTer9)
c.101484_101485insTG (p.Glu33829TrpfsTer9)
n.446+6447_446+6448insCA
n.220-5649_220-5648insCA
c.105504_105505insTG (p.Glu35169TrpfsTer9)
c.79398_79399insTG (p.Glu26467TrpfsTer9)
c.79257_79258insTG (p.Glu26420TrpfsTer9)
c.105300_105301insTG (p.Glu35101TrpfsTer9)
c.100698_100699insTG (p.Glu33567TrpfsTer9)
c.100695_100696insTG (p.Glu33566TrpfsTer9)
c.97737_97738insTG (p.Glu32580TrpfsTer9)
c.79353_79354insTG (p.Glu26452TrpfsTer9)
c.100848_100849insTG (p.Glu33617TrpfsTer9)
c.100845_100846insTG (p.Glu33616TrpfsTer9)
c.100278_100279insTG (p.Glu33427TrpfsTer9)
c.97620_97621insTG (p.Glu32541TrpfsTer9)
c.97539_97540insTG (p.Glu32514TrpfsTer9)
c.79302_79303insTG (p.Glu26435TrpfsTer9)
c.69156_69157insTG (p.Glu23053TrpfsTer9)
 dbSNP
2g.178530084A>CCA430093992TTN,TTN-AS1c.98703T>G (p.Ser32901=)
c.79788T>G (p.Ser26596=)
c.79587T>G (p.Ser26529=)
c.79212T>G (p.Ser26404=)
c.106407T>G (p.Ser35469=)
c.101484T>G (p.Ser33828=)
n.446+6448A>C
n.220-5648A>C
c.105504T>G (p.Ser35168=)
c.79398T>G (p.Ser26466=)
c.79257T>G (p.Ser26419=)
c.105300T>G (p.Ser35100=)
c.100698T>G (p.Ser33566=)
c.100695T>G (p.Ser33565=)
c.97737T>G (p.Ser32579=)
c.79353T>G (p.Ser26451=)
c.100848T>G (p.Ser33616=)
c.100845T>G (p.Ser33615=)
c.100278T>G (p.Ser33426=)
c.97620T>G (p.Ser32540=)
c.97539T>G (p.Ser32513=)
c.79302T>G (p.Ser26434=)
c.69156T>G (p.Ser23052=)
2g.178530084A>GCA430093993TTN,TTN-AS1c.98703T>C (p.Ser32901=)
c.79788T>C (p.Ser26596=)
c.79587T>C (p.Ser26529=)
c.79212T>C (p.Ser26404=)
c.106407T>C (p.Ser35469=)
c.101484T>C (p.Ser33828=)
n.446+6448A>G
n.220-5648A>G
c.105504T>C (p.Ser35168=)
c.79398T>C (p.Ser26466=)
c.79257T>C (p.Ser26419=)
c.105300T>C (p.Ser35100=)
c.100698T>C (p.Ser33566=)
c.100695T>C (p.Ser33565=)
c.97737T>C (p.Ser32579=)
c.79353T>C (p.Ser26451=)
c.100848T>C (p.Ser33616=)
c.100845T>C (p.Ser33615=)
c.100278T>C (p.Ser33426=)
c.97620T>C (p.Ser32540=)
c.97539T>C (p.Ser32513=)
c.79302T>C (p.Ser26434=)
c.69156T>C (p.Ser23052=)
2g.178530084A>TCA430093995TTN,TTN-AS1c.98703T>A (p.Ser32901=)
c.79788T>A (p.Ser26596=)
c.79587T>A (p.Ser26529=)
c.79212T>A (p.Ser26404=)
c.106407T>A (p.Ser35469=)
c.101484T>A (p.Ser33828=)
n.446+6448A>T
n.220-5648A>T
c.105504T>A (p.Ser35168=)
c.79398T>A (p.Ser26466=)
c.79257T>A (p.Ser26419=)
c.105300T>A (p.Ser35100=)
c.100698T>A (p.Ser33566=)
c.100695T>A (p.Ser33565=)
c.97737T>A (p.Ser32579=)
c.79353T>A (p.Ser26451=)
c.100848T>A (p.Ser33616=)
c.100845T>A (p.Ser33615=)
c.100278T>A (p.Ser33426=)
c.97620T>A (p.Ser32540=)
c.97539T>A (p.Ser32513=)
c.79302T>A (p.Ser26434=)
c.69156T>A (p.Ser23052=)
2g.178530084_178530087delinsAGAGCA1310511458TTN,TTN-AS1c.98700_98703delinsCTCT (p.Leu32900=)
c.79785_79788delinsCTCT (p.Leu26595=)
c.79584_79587delinsCTCT (p.Leu26528=)
c.79209_79212delinsCTCT (p.Leu26403=)
c.106404_106407delinsCTCT (p.Leu35468=)
c.101481_101484delinsCTCT (p.Leu33827=)
n.446+6448_446+6451delinsAGAG
n.220-5648_220-5645delinsAGAG
c.105501_105504delinsCTCT (p.Leu35167=)
c.79395_79398delinsCTCT (p.Leu26465=)
c.79254_79257delinsCTCT (p.Leu26418=)
c.105297_105300delinsCTCT (p.Leu35099=)
c.100695_100698delinsCTCT (p.Leu33565=)
c.100692_100695delinsCTCT (p.Leu33564=)
c.97734_97737delinsCTCT (p.Leu32578=)
c.79350_79353delinsCTCT (p.Leu26450=)
c.100845_100848delinsCTCT (p.Leu33615=)
c.100842_100845delinsCTCT (p.Leu33614=)
c.100275_100278delinsCTCT (p.Leu33425=)
c.97617_97620delinsCTCT (p.Leu32539=)
c.97536_97539delinsCTCT (p.Leu32512=)
c.79299_79302delinsCTCT (p.Leu26433=)
c.69153_69156delinsCTCT (p.Leu23051=)
2g.178530088_178530089delCA2586970729TTN,TTN-AS1c.98702_98703del (p.Ser32901Ter)
c.79787_79788del (p.Ser26596Ter)
c.79586_79587del (p.Ser26529Ter)
c.79211_79212del (p.Ser26404Ter)
c.106406_106407del (p.Ser35469Ter)
c.101483_101484del (p.Ser33828Ter)
n.446+6452_446+6453del
n.220-5644_220-5643del
c.105503_105504del (p.Ser35168Ter)
c.79397_79398del (p.Ser26466Ter)
c.79256_79257del (p.Ser26419Ter)
c.105299_105300del (p.Ser35100Ter)
c.100697_100698del (p.Ser33566Ter)
c.100694_100695del (p.Ser33565Ter)
c.97736_97737del (p.Ser32579Ter)
c.79352_79353del (p.Ser26451Ter)
c.100847_100848del (p.Ser33616Ter)
c.100844_100845del (p.Ser33615Ter)
c.100277_100278del (p.Ser33426Ter)
c.97619_97620del (p.Ser32540Ter)
c.97538_97539del (p.Ser32513Ter)
c.79301_79302del (p.Ser26434Ter)
c.69155_69156del (p.Ser23052Ter)
2g.178530085G>ACA349405476TTN,TTN-AS1c.98702C>T (p.Ser32901Phe)
c.79787C>T (p.Ser26596Phe)
c.79586C>T (p.Ser26529Phe)
c.79211C>T (p.Ser26404Phe)
c.106406C>T (p.Ser35469Phe)
c.101483C>T (p.Ser33828Phe)
n.446+6449G>A
n.220-5647G>A
c.105503C>T (p.Ser35168Phe)
c.79397C>T (p.Ser26466Phe)
c.79256C>T (p.Ser26419Phe)
c.105299C>T (p.Ser35100Phe)
c.100697C>T (p.Ser33566Phe)
c.100694C>T (p.Ser33565Phe)
c.97736C>T (p.Ser32579Phe)
c.79352C>T (p.Ser26451Phe)
c.100847C>T (p.Ser33616Phe)
c.100844C>T (p.Ser33615Phe)
c.100277C>T (p.Ser33426Phe)
c.97619C>T (p.Ser32540Phe)
c.97538C>T (p.Ser32513Phe)
c.79301C>T (p.Ser26434Phe)
c.69155C>T (p.Ser23052Phe)
2g.178530085G>CCA349405483TTN,TTN-AS1c.98702C>G (p.Ser32901Cys)
c.79787C>G (p.Ser26596Cys)
c.79586C>G (p.Ser26529Cys)
c.79211C>G (p.Ser26404Cys)
c.106406C>G (p.Ser35469Cys)
c.101483C>G (p.Ser33828Cys)
n.446+6449G>C
n.220-5647G>C
c.105503C>G (p.Ser35168Cys)
c.79397C>G (p.Ser26466Cys)
c.79256C>G (p.Ser26419Cys)
c.105299C>G (p.Ser35100Cys)
c.100697C>G (p.Ser33566Cys)
c.100694C>G (p.Ser33565Cys)
c.97736C>G (p.Ser32579Cys)
c.79352C>G (p.Ser26451Cys)
c.100847C>G (p.Ser33616Cys)
c.100844C>G (p.Ser33615Cys)
c.100277C>G (p.Ser33426Cys)
c.97619C>G (p.Ser32540Cys)
c.97538C>G (p.Ser32513Cys)
c.79301C>G (p.Ser26434Cys)
c.69155C>G (p.Ser23052Cys)
2g.178530085G>TCA349405484TTN,TTN-AS1c.98702C>A (p.Ser32901Tyr)
c.79787C>A (p.Ser26596Tyr)
c.79586C>A (p.Ser26529Tyr)
c.79211C>A (p.Ser26404Tyr)
c.106406C>A (p.Ser35469Tyr)
c.101483C>A (p.Ser33828Tyr)
n.446+6449G>T
n.220-5647G>T
c.105503C>A (p.Ser35168Tyr)
c.79397C>A (p.Ser26466Tyr)
c.79256C>A (p.Ser26419Tyr)
c.105299C>A (p.Ser35100Tyr)
c.100697C>A (p.Ser33566Tyr)
c.100694C>A (p.Ser33565Tyr)
c.97736C>A (p.Ser32579Tyr)
c.79352C>A (p.Ser26451Tyr)
c.100847C>A (p.Ser33616Tyr)
c.100844C>A (p.Ser33615Tyr)
c.100277C>A (p.Ser33426Tyr)
c.97619C>A (p.Ser32540Tyr)
c.97538C>A (p.Ser32513Tyr)
c.79301C>A (p.Ser26434Tyr)
c.69155C>A (p.Ser23052Tyr)
2g.178530085_178530087delCA1310511460TTN,TTN-AS1c.98700_98702del (p.Ser32901del)
c.79785_79787del (p.Ser26596del)
c.79584_79586del (p.Ser26529del)
c.79209_79211del (p.Ser26404del)
c.106404_106406del (p.Ser35469del)
c.101481_101483del (p.Ser33828del)
n.446+6449_446+6451del
n.220-5647_220-5645del
c.105501_105503del (p.Ser35168del)
c.79395_79397del (p.Ser26466del)
c.79254_79256del (p.Ser26419del)
c.105297_105299del (p.Ser35100del)
c.100695_100697del (p.Ser33566del)
c.100692_100694del (p.Ser33565del)
c.97734_97736del (p.Ser32579del)
c.79350_79352del (p.Ser26451del)
c.100845_100847del (p.Ser33616del)
c.100842_100844del (p.Ser33615del)
c.100275_100277del (p.Ser33426del)
c.97617_97619del (p.Ser32540del)
c.97536_97538del (p.Ser32513del)
c.79299_79301del (p.Ser26434del)
c.69153_69155del (p.Ser23052del)
 dbSNP
2g.178530086A>CCA349405487TTN,TTN-AS1c.98701T>G (p.Ser32901Ala)
c.79786T>G (p.Ser26596Ala)
c.79585T>G (p.Ser26529Ala)
c.79210T>G (p.Ser26404Ala)
c.106405T>G (p.Ser35469Ala)
c.101482T>G (p.Ser33828Ala)
n.446+6450A>C
n.220-5646A>C
c.105502T>G (p.Ser35168Ala)
c.79396T>G (p.Ser26466Ala)
c.79255T>G (p.Ser26419Ala)
c.105298T>G (p.Ser35100Ala)
c.100696T>G (p.Ser33566Ala)
c.100693T>G (p.Ser33565Ala)
c.97735T>G (p.Ser32579Ala)
c.79351T>G (p.Ser26451Ala)
c.100846T>G (p.Ser33616Ala)
c.100843T>G (p.Ser33615Ala)
c.100276T>G (p.Ser33426Ala)
c.97618T>G (p.Ser32540Ala)
c.97537T>G (p.Ser32513Ala)
c.79300T>G (p.Ser26434Ala)
c.69154T>G (p.Ser23052Ala)
2g.178530086A>GCA349405488TTN,TTN-AS1c.98701T>C (p.Ser32901Pro)
c.79786T>C (p.Ser26596Pro)
c.79585T>C (p.Ser26529Pro)
c.79210T>C (p.Ser26404Pro)
c.106405T>C (p.Ser35469Pro)
c.101482T>C (p.Ser33828Pro)
n.446+6450A>G
n.220-5646A>G
c.105502T>C (p.Ser35168Pro)
c.79396T>C (p.Ser26466Pro)
c.79255T>C (p.Ser26419Pro)
c.105298T>C (p.Ser35100Pro)
c.100696T>C (p.Ser33566Pro)
c.100693T>C (p.Ser33565Pro)
c.97735T>C (p.Ser32579Pro)
c.79351T>C (p.Ser26451Pro)
c.100846T>C (p.Ser33616Pro)
c.100843T>C (p.Ser33615Pro)
c.100276T>C (p.Ser33426Pro)
c.97618T>C (p.Ser32540Pro)
c.97537T>C (p.Ser32513Pro)
c.79300T>C (p.Ser26434Pro)
c.69154T>C (p.Ser23052Pro)
 gnomAD v4
2g.178530086A>TCA349405489TTN,TTN-AS1c.98701T>A (p.Ser32901Thr)
c.79786T>A (p.Ser26596Thr)
c.79585T>A (p.Ser26529Thr)
c.79210T>A (p.Ser26404Thr)
c.106405T>A (p.Ser35469Thr)
c.101482T>A (p.Ser33828Thr)
n.446+6450A>T
n.220-5646A>T
c.105502T>A (p.Ser35168Thr)
c.79396T>A (p.Ser26466Thr)
c.79255T>A (p.Ser26419Thr)
c.105298T>A (p.Ser35100Thr)
c.100696T>A (p.Ser33566Thr)
c.100693T>A (p.Ser33565Thr)
c.97735T>A (p.Ser32579Thr)
c.79351T>A (p.Ser26451Thr)
c.100846T>A (p.Ser33616Thr)
c.100843T>A (p.Ser33615Thr)
c.100276T>A (p.Ser33426Thr)
c.97618T>A (p.Ser32540Thr)
c.97537T>A (p.Ser32513Thr)
c.79300T>A (p.Ser26434Thr)
c.69154T>A (p.Ser23052Thr)
2g.178530087G>ACA430094010TTN,TTN-AS1c.98700C>T (p.Leu32900=)
c.79785C>T (p.Leu26595=)
c.79584C>T (p.Leu26528=)
c.79209C>T (p.Leu26403=)
c.106404C>T (p.Leu35468=)
c.101481C>T (p.Leu33827=)
n.446+6451G>A
n.220-5645G>A
c.105501C>T (p.Leu35167=)
c.79395C>T (p.Leu26465=)
c.79254C>T (p.Leu26418=)
c.105297C>T (p.Leu35099=)
c.100695C>T (p.Leu33565=)
c.100692C>T (p.Leu33564=)
c.97734C>T (p.Leu32578=)
c.79350C>T (p.Leu26450=)
c.100845C>T (p.Leu33615=)
c.100842C>T (p.Leu33614=)
c.100275C>T (p.Leu33425=)
c.97617C>T (p.Leu32539=)
c.97536C>T (p.Leu32512=)
c.79299C>T (p.Leu26433=)
c.69153C>T (p.Leu23051=)
2g.178530087G>CCA430094013TTN,TTN-AS1c.98700C>G (p.Leu32900=)
c.79785C>G (p.Leu26595=)
c.79584C>G (p.Leu26528=)
c.79209C>G (p.Leu26403=)
c.106404C>G (p.Leu35468=)
c.101481C>G (p.Leu33827=)
n.446+6451G>C
n.220-5645G>C
c.105501C>G (p.Leu35167=)
c.79395C>G (p.Leu26465=)
c.79254C>G (p.Leu26418=)
c.105297C>G (p.Leu35099=)
c.100695C>G (p.Leu33565=)
c.100692C>G (p.Leu33564=)
c.97734C>G (p.Leu32578=)
c.79350C>G (p.Leu26450=)
c.100845C>G (p.Leu33615=)
c.100842C>G (p.Leu33614=)
c.100275C>G (p.Leu33425=)
c.97617C>G (p.Leu32539=)
c.97536C>G (p.Leu32512=)
c.79299C>G (p.Leu26433=)
c.69153C>G (p.Leu23051=)
2g.178530087G>TCA430094014TTN,TTN-AS1c.98700C>A (p.Leu32900=)
c.79785C>A (p.Leu26595=)
c.79584C>A (p.Leu26528=)
c.79209C>A (p.Leu26403=)
c.106404C>A (p.Leu35468=)
c.101481C>A (p.Leu33827=)
n.446+6451G>T
n.220-5645G>T
c.105501C>A (p.Leu35167=)
c.79395C>A (p.Leu26465=)
c.79254C>A (p.Leu26418=)
c.105297C>A (p.Leu35099=)
c.100695C>A (p.Leu33565=)
c.100692C>A (p.Leu33564=)
c.97734C>A (p.Leu32578=)
c.79350C>A (p.Leu26450=)
c.100845C>A (p.Leu33615=)
c.100842C>A (p.Leu33614=)
c.100275C>A (p.Leu33425=)
c.97617C>A (p.Leu32539=)
c.97536C>A (p.Leu32512=)
c.79299C>A (p.Leu26433=)
c.69153C>A (p.Leu23051=)
 ClinVar COSMIC COSMIC COSMIC COSMIC
2g.178530088A=CA1310511466TTN,TTN-AS1c.98699T= (p.Leu32900=)
c.79784T= (p.Leu26595=)
c.79583T= (p.Leu26528=)
c.79208T= (p.Leu26403=)
c.106403T= (p.Leu35468=)
c.101480T= (p.Leu33827=)
n.446+6452A=
n.220-5644A=
c.105500T= (p.Leu35167=)
c.79394T= (p.Leu26465=)
c.79253T= (p.Leu26418=)
c.105296T= (p.Leu35099=)
c.100694T= (p.Leu33565=)
c.100691T= (p.Leu33564=)
c.97733T= (p.Leu32578=)
c.79349T= (p.Leu26450=)
c.100844T= (p.Leu33615=)
c.100841T= (p.Leu33614=)
c.100274T= (p.Leu33425=)
c.97616T= (p.Leu32539=)
c.97535T= (p.Leu32512=)
c.79298T= (p.Leu26433=)
c.69152T= (p.Leu23051=)
2g.178530088A>CCA349405492TTN,TTN-AS1c.98699T>G (p.Leu32900Arg)
c.79784T>G (p.Leu26595Arg)
c.79583T>G (p.Leu26528Arg)
c.79208T>G (p.Leu26403Arg)
c.106403T>G (p.Leu35468Arg)
c.101480T>G (p.Leu33827Arg)
n.446+6452A>C
n.220-5644A>C
c.105500T>G (p.Leu35167Arg)
c.79394T>G (p.Leu26465Arg)
c.79253T>G (p.Leu26418Arg)
c.105296T>G (p.Leu35099Arg)
c.100694T>G (p.Leu33565Arg)
c.100691T>G (p.Leu33564Arg)
c.97733T>G (p.Leu32578Arg)
c.79349T>G (p.Leu26450Arg)
c.100844T>G (p.Leu33615Arg)
c.100841T>G (p.Leu33614Arg)
c.100274T>G (p.Leu33425Arg)
c.97616T>G (p.Leu32539Arg)
c.97535T>G (p.Leu32512Arg)
c.79298T>G (p.Leu26433Arg)
c.69152T>G (p.Leu23051Arg)
2g.178530088A>GCA349405495TTN,TTN-AS1c.98699T>C (p.Leu32900Pro)
c.79784T>C (p.Leu26595Pro)
c.79583T>C (p.Leu26528Pro)
c.79208T>C (p.Leu26403Pro)
c.106403T>C (p.Leu35468Pro)
c.101480T>C (p.Leu33827Pro)
n.446+6452A>G
n.220-5644A>G
c.105500T>C (p.Leu35167Pro)
c.79394T>C (p.Leu26465Pro)
c.79253T>C (p.Leu26418Pro)
c.105296T>C (p.Leu35099Pro)
c.100694T>C (p.Leu33565Pro)
c.100691T>C (p.Leu33564Pro)
c.97733T>C (p.Leu32578Pro)
c.79349T>C (p.Leu26450Pro)
c.100844T>C (p.Leu33615Pro)
c.100841T>C (p.Leu33614Pro)
c.100274T>C (p.Leu33425Pro)
c.97616T>C (p.Leu32539Pro)
c.97535T>C (p.Leu32512Pro)
c.79298T>C (p.Leu26433Pro)
c.69152T>C (p.Leu23051Pro)
 gnomAD v4
2g.178530088A>TCA60953065TTN,TTN-AS1c.98699T>A (p.Leu32900His)
c.79784T>A (p.Leu26595His)
c.79583T>A (p.Leu26528His)
c.79208T>A (p.Leu26403His)
c.106403T>A (p.Leu35468His)
c.101480T>A (p.Leu33827His)
n.446+6452A>T
n.220-5644A>T
c.105500T>A (p.Leu35167His)
c.79394T>A (p.Leu26465His)
c.79253T>A (p.Leu26418His)
c.105296T>A (p.Leu35099His)
c.100694T>A (p.Leu33565His)
c.100691T>A (p.Leu33564His)
c.97733T>A (p.Leu32578His)
c.79349T>A (p.Leu26450His)
c.100844T>A (p.Leu33615His)
c.100841T>A (p.Leu33614His)
c.100274T>A (p.Leu33425His)
c.97616T>A (p.Leu32539His)
c.97535T>A (p.Leu32512His)
c.79298T>A (p.Leu26433His)
c.69152T>A (p.Leu23051His)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.178530089G>ACA349405500TTN,TTN-AS1c.98698C>T (p.Leu32900Phe)
c.79783C>T (p.Leu26595Phe)
c.79582C>T (p.Leu26528Phe)
c.79207C>T (p.Leu26403Phe)
c.106402C>T (p.Leu35468Phe)
c.101479C>T (p.Leu33827Phe)
n.446+6453G>A
n.220-5643G>A
c.105499C>T (p.Leu35167Phe)
c.79393C>T (p.Leu26465Phe)
c.79252C>T (p.Leu26418Phe)
c.105295C>T (p.Leu35099Phe)
c.100693C>T (p.Leu33565Phe)
c.100690C>T (p.Leu33564Phe)
c.97732C>T (p.Leu32578Phe)
c.79348C>T (p.Leu26450Phe)
c.100843C>T (p.Leu33615Phe)
c.100840C>T (p.Leu33614Phe)
c.100273C>T (p.Leu33425Phe)
c.97615C>T (p.Leu32539Phe)
c.97534C>T (p.Leu32512Phe)
c.79297C>T (p.Leu26433Phe)
c.69151C>T (p.Leu23051Phe)
 dbSNP
2g.178530089G>CCA349405502TTN,TTN-AS1c.98698C>G (p.Leu32900Val)
c.79783C>G (p.Leu26595Val)
c.79582C>G (p.Leu26528Val)
c.79207C>G (p.Leu26403Val)
c.106402C>G (p.Leu35468Val)
c.101479C>G (p.Leu33827Val)
n.446+6453G>C
n.220-5643G>C
c.105499C>G (p.Leu35167Val)
c.79393C>G (p.Leu26465Val)
c.79252C>G (p.Leu26418Val)
c.105295C>G (p.Leu35099Val)
c.100693C>G (p.Leu33565Val)
c.100690C>G (p.Leu33564Val)
c.97732C>G (p.Leu32578Val)
c.79348C>G (p.Leu26450Val)
c.100843C>G (p.Leu33615Val)
c.100840C>G (p.Leu33614Val)
c.100273C>G (p.Leu33425Val)
c.97615C>G (p.Leu32539Val)
c.97534C>G (p.Leu32512Val)
c.79297C>G (p.Leu26433Val)
c.69151C>G (p.Leu23051Val)
 ClinVar
2g.178530089G=CA1310511470TTN,TTN-AS1c.98698C= (p.Leu32900=)
c.79783C= (p.Leu26595=)
c.79582C= (p.Leu26528=)
c.79207C= (p.Leu26403=)
c.106402C= (p.Leu35468=)
c.101479C= (p.Leu33827=)
n.446+6453G=
n.220-5643G=
c.105499C= (p.Leu35167=)
c.79393C= (p.Leu26465=)
c.79252C= (p.Leu26418=)
c.105295C= (p.Leu35099=)
c.100693C= (p.Leu33565=)
c.100690C= (p.Leu33564=)
c.97732C= (p.Leu32578=)
c.79348C= (p.Leu26450=)
c.100843C= (p.Leu33615=)
c.100840C= (p.Leu33614=)
c.100273C= (p.Leu33425=)
c.97615C= (p.Leu32539=)
c.97534C= (p.Leu32512=)
c.79297C= (p.Leu26433=)
c.69151C= (p.Leu23051=)
2g.178530089G>TCA349405507TTN,TTN-AS1c.98698C>A (p.Leu32900Ile)
c.79783C>A (p.Leu26595Ile)
c.79582C>A (p.Leu26528Ile)
c.79207C>A (p.Leu26403Ile)
c.106402C>A (p.Leu35468Ile)
c.101479C>A (p.Leu33827Ile)
n.446+6453G>T
n.220-5643G>T
c.105499C>A (p.Leu35167Ile)
c.79393C>A (p.Leu26465Ile)
c.79252C>A (p.Leu26418Ile)
c.105295C>A (p.Leu35099Ile)
c.100693C>A (p.Leu33565Ile)
c.100690C>A (p.Leu33564Ile)
c.97732C>A (p.Leu32578Ile)
c.79348C>A (p.Leu26450Ile)
c.100843C>A (p.Leu33615Ile)
c.100840C>A (p.Leu33614Ile)
c.100273C>A (p.Leu33425Ile)
c.97615C>A (p.Leu32539Ile)
c.97534C>A (p.Leu32512Ile)
c.79297C>A (p.Leu26433Ile)
c.69151C>A (p.Leu23051Ile)
 dbSNP
2g.178530090T>ACA349405511TTN,TTN-AS1c.98697A>T (p.Lys32899Asn)
c.79782A>T (p.Lys26594Asn)
c.79581A>T (p.Lys26527Asn)
c.79206A>T (p.Lys26402Asn)
c.106401A>T (p.Lys35467Asn)
c.101478A>T (p.Lys33826Asn)
n.446+6454T>A
n.220-5642T>A
c.105498A>T (p.Lys35166Asn)
c.79392A>T (p.Lys26464Asn)
c.79251A>T (p.Lys26417Asn)
c.105294A>T (p.Lys35098Asn)
c.100692A>T (p.Lys33564Asn)
c.100689A>T (p.Lys33563Asn)
c.97731A>T (p.Lys32577Asn)
c.79347A>T (p.Lys26449Asn)
c.100842A>T (p.Lys33614Asn)
c.100839A>T (p.Lys33613Asn)
c.100272A>T (p.Lys33424Asn)
c.97614A>T (p.Lys32538Asn)
c.97533A>T (p.Lys32511Asn)
c.79296A>T (p.Lys26432Asn)
c.69150A>T (p.Lys23050Asn)
2g.178530090T>CCA430094025TTN,TTN-AS1c.98697A>G (p.Lys32899=)
c.79782A>G (p.Lys26594=)
c.79581A>G (p.Lys26527=)
c.79206A>G (p.Lys26402=)
c.106401A>G (p.Lys35467=)
c.101478A>G (p.Lys33826=)
n.446+6454T>C
n.220-5642T>C
c.105498A>G (p.Lys35166=)
c.79392A>G (p.Lys26464=)
c.79251A>G (p.Lys26417=)
c.105294A>G (p.Lys35098=)
c.100692A>G (p.Lys33564=)
c.100689A>G (p.Lys33563=)
c.97731A>G (p.Lys32577=)
c.79347A>G (p.Lys26449=)
c.100842A>G (p.Lys33614=)
c.100839A>G (p.Lys33613=)
c.100272A>G (p.Lys33424=)
c.97614A>G (p.Lys32538=)
c.97533A>G (p.Lys32511=)
c.79296A>G (p.Lys26432=)
c.69150A>G (p.Lys23050=)
2g.178530090T>GCA349405514TTN,TTN-AS1c.98697A>C (p.Lys32899Asn)
c.79782A>C (p.Lys26594Asn)
c.79581A>C (p.Lys26527Asn)
c.79206A>C (p.Lys26402Asn)
c.106401A>C (p.Lys35467Asn)
c.101478A>C (p.Lys33826Asn)
n.446+6454T>G
n.220-5642T>G
c.105498A>C (p.Lys35166Asn)
c.79392A>C (p.Lys26464Asn)
c.79251A>C (p.Lys26417Asn)
c.105294A>C (p.Lys35098Asn)
c.100692A>C (p.Lys33564Asn)
c.100689A>C (p.Lys33563Asn)
c.97731A>C (p.Lys32577Asn)
c.79347A>C (p.Lys26449Asn)
c.100842A>C (p.Lys33614Asn)
c.100839A>C (p.Lys33613Asn)
c.100272A>C (p.Lys33424Asn)
c.97614A>C (p.Lys32538Asn)
c.97533A>C (p.Lys32511Asn)
c.79296A>C (p.Lys26432Asn)
c.69150A>C (p.Lys23050Asn)
2g.178530091T>ACA349405519TTN,TTN-AS1c.98696A>T (p.Lys32899Ile)
c.79781A>T (p.Lys26594Ile)
c.79580A>T (p.Lys26527Ile)
c.79205A>T (p.Lys26402Ile)
c.106400A>T (p.Lys35467Ile)
c.101477A>T (p.Lys33826Ile)
n.446+6455T>A
n.220-5641T>A
c.105497A>T (p.Lys35166Ile)
c.79391A>T (p.Lys26464Ile)
c.79250A>T (p.Lys26417Ile)
c.105293A>T (p.Lys35098Ile)
c.100691A>T (p.Lys33564Ile)
c.100688A>T (p.Lys33563Ile)
c.97730A>T (p.Lys32577Ile)
c.79346A>T (p.Lys26449Ile)
c.100841A>T (p.Lys33614Ile)
c.100838A>T (p.Lys33613Ile)
c.100271A>T (p.Lys33424Ile)
c.97613A>T (p.Lys32538Ile)
c.97532A>T (p.Lys32511Ile)
c.79295A>T (p.Lys26432Ile)
c.69149A>T (p.Lys23050Ile)
2g.178530091T>CCA349405520TTN,TTN-AS1c.98696A>G (p.Lys32899Arg)
c.79781A>G (p.Lys26594Arg)
c.79580A>G (p.Lys26527Arg)
c.79205A>G (p.Lys26402Arg)
c.106400A>G (p.Lys35467Arg)
c.101477A>G (p.Lys33826Arg)
n.446+6455T>C
n.220-5641T>C
c.105497A>G (p.Lys35166Arg)
c.79391A>G (p.Lys26464Arg)
c.79250A>G (p.Lys26417Arg)
c.105293A>G (p.Lys35098Arg)
c.100691A>G (p.Lys33564Arg)
c.100688A>G (p.Lys33563Arg)
c.97730A>G (p.Lys32577Arg)
c.79346A>G (p.Lys26449Arg)
c.100841A>G (p.Lys33614Arg)
c.100838A>G (p.Lys33613Arg)
c.100271A>G (p.Lys33424Arg)
c.97613A>G (p.Lys32538Arg)
c.97532A>G (p.Lys32511Arg)
c.79295A>G (p.Lys26432Arg)
c.69149A>G (p.Lys23050Arg)
2g.178530091T>GCA349405516TTN,TTN-AS1c.98696A>C (p.Lys32899Thr)
c.79781A>C (p.Lys26594Thr)
c.79580A>C (p.Lys26527Thr)
c.79205A>C (p.Lys26402Thr)
c.106400A>C (p.Lys35467Thr)
c.101477A>C (p.Lys33826Thr)
n.446+6455T>G
n.220-5641T>G
c.105497A>C (p.Lys35166Thr)
c.79391A>C (p.Lys26464Thr)
c.79250A>C (p.Lys26417Thr)
c.105293A>C (p.Lys35098Thr)
c.100691A>C (p.Lys33564Thr)
c.100688A>C (p.Lys33563Thr)
c.97730A>C (p.Lys32577Thr)
c.79346A>C (p.Lys26449Thr)
c.100841A>C (p.Lys33614Thr)
c.100838A>C (p.Lys33613Thr)
c.100271A>C (p.Lys33424Thr)
c.97613A>C (p.Lys32538Thr)
c.97532A>C (p.Lys32511Thr)
c.79295A>C (p.Lys26432Thr)
c.69149A>C (p.Lys23050Thr)
2g.178530092T>ACA349405523TTN,TTN-AS1c.98695A>T (p.Lys32899Ter)
c.79780A>T (p.Lys26594Ter)
c.79579A>T (p.Lys26527Ter)
c.79204A>T (p.Lys26402Ter)
c.106399A>T (p.Lys35467Ter)
c.101476A>T (p.Lys33826Ter)
n.446+6456T>A
n.220-5640T>A
c.105496A>T (p.Lys35166Ter)
c.79390A>T (p.Lys26464Ter)
c.79249A>T (p.Lys26417Ter)
c.105292A>T (p.Lys35098Ter)
c.100690A>T (p.Lys33564Ter)
c.100687A>T (p.Lys33563Ter)
c.97729A>T (p.Lys32577Ter)
c.79345A>T (p.Lys26449Ter)
c.100840A>T (p.Lys33614Ter)
c.100837A>T (p.Lys33613Ter)
c.100270A>T (p.Lys33424Ter)
c.97612A>T (p.Lys32538Ter)
c.97531A>T (p.Lys32511Ter)
c.79294A>T (p.Lys26432Ter)
c.69148A>T (p.Lys23050Ter)
2g.178530092T>CCA349405524TTN,TTN-AS1c.98695A>G (p.Lys32899Glu)
c.79780A>G (p.Lys26594Glu)
c.79579A>G (p.Lys26527Glu)
c.79204A>G (p.Lys26402Glu)
c.106399A>G (p.Lys35467Glu)
c.101476A>G (p.Lys33826Glu)
n.446+6456T>C
n.220-5640T>C
c.105496A>G (p.Lys35166Glu)
c.79390A>G (p.Lys26464Glu)
c.79249A>G (p.Lys26417Glu)
c.105292A>G (p.Lys35098Glu)
c.100690A>G (p.Lys33564Glu)
c.100687A>G (p.Lys33563Glu)
c.97729A>G (p.Lys32577Glu)
c.79345A>G (p.Lys26449Glu)
c.100840A>G (p.Lys33614Glu)
c.100837A>G (p.Lys33613Glu)
c.100270A>G (p.Lys33424Glu)
c.97612A>G (p.Lys32538Glu)
c.97531A>G (p.Lys32511Glu)
c.79294A>G (p.Lys26432Glu)
c.69148A>G (p.Lys23050Glu)
2g.178530092T>GCA349405525TTN,TTN-AS1c.98695A>C (p.Lys32899Gln)
c.79780A>C (p.Lys26594Gln)
c.79579A>C (p.Lys26527Gln)
c.79204A>C (p.Lys26402Gln)
c.106399A>C (p.Lys35467Gln)
c.101476A>C (p.Lys33826Gln)
n.446+6456T>G
n.220-5640T>G
c.105496A>C (p.Lys35166Gln)
c.79390A>C (p.Lys26464Gln)
c.79249A>C (p.Lys26417Gln)
c.105292A>C (p.Lys35098Gln)
c.100690A>C (p.Lys33564Gln)
c.100687A>C (p.Lys33563Gln)
c.97729A>C (p.Lys32577Gln)
c.79345A>C (p.Lys26449Gln)
c.100840A>C (p.Lys33614Gln)
c.100837A>C (p.Lys33613Gln)
c.100270A>C (p.Lys33424Gln)
c.97612A>C (p.Lys32538Gln)
c.97531A>C (p.Lys32511Gln)
c.79294A>C (p.Lys26432Gln)
c.69148A>C (p.Lys23050Gln)
2g.178530093A=CA1310511473TTN,TTN-AS1c.98694T= (p.Tyr32898=)
c.79779T= (p.Tyr26593=)
c.79578T= (p.Tyr26526=)
c.79203T= (p.Tyr26401=)
c.106398T= (p.Tyr35466=)
c.101475T= (p.Tyr33825=)
n.446+6457A=
n.220-5639A=
c.105495T= (p.Tyr35165=)
c.79389T= (p.Tyr26463=)
c.79248T= (p.Tyr26416=)
c.105291T= (p.Tyr35097=)
c.100689T= (p.Tyr33563=)
c.100686T= (p.Tyr33562=)
c.97728T= (p.Tyr32576=)
c.79344T= (p.Tyr26448=)
c.100839T= (p.Tyr33613=)
c.100836T= (p.Tyr33612=)
c.100269T= (p.Tyr33423=)
c.97611T= (p.Tyr32537=)
c.97530T= (p.Tyr32510=)
c.79293T= (p.Tyr26431=)
c.69147T= (p.Tyr23049=)
2g.178530093A>CCA349405526TTN,TTN-AS1c.98694T>G (p.Tyr32898Ter)
c.79779T>G (p.Tyr26593Ter)
c.79578T>G (p.Tyr26526Ter)
c.79203T>G (p.Tyr26401Ter)
c.106398T>G (p.Tyr35466Ter)
c.101475T>G (p.Tyr33825Ter)
n.446+6457A>C
n.220-5639A>C
c.105495T>G (p.Tyr35165Ter)
c.79389T>G (p.Tyr26463Ter)
c.79248T>G (p.Tyr26416Ter)
c.105291T>G (p.Tyr35097Ter)
c.100689T>G (p.Tyr33563Ter)
c.100686T>G (p.Tyr33562Ter)
c.97728T>G (p.Tyr32576Ter)
c.79344T>G (p.Tyr26448Ter)
c.100839T>G (p.Tyr33613Ter)
c.100836T>G (p.Tyr33612Ter)
c.100269T>G (p.Tyr33423Ter)
c.97611T>G (p.Tyr32537Ter)
c.97530T>G (p.Tyr32510Ter)
c.79293T>G (p.Tyr26431Ter)
c.69147T>G (p.Tyr23049Ter)
2g.178530093A>GCA430094026TTN,TTN-AS1c.98694T>C (p.Tyr32898=)
c.79779T>C (p.Tyr26593=)
c.79578T>C (p.Tyr26526=)
c.79203T>C (p.Tyr26401=)
c.106398T>C (p.Tyr35466=)
c.101475T>C (p.Tyr33825=)
n.446+6457A>G
n.220-5639A>G
c.105495T>C (p.Tyr35165=)
c.79389T>C (p.Tyr26463=)
c.79248T>C (p.Tyr26416=)
c.105291T>C (p.Tyr35097=)
c.100689T>C (p.Tyr33563=)
c.100686T>C (p.Tyr33562=)
c.97728T>C (p.Tyr32576=)
c.79344T>C (p.Tyr26448=)
c.100839T>C (p.Tyr33613=)
c.100836T>C (p.Tyr33612=)
c.100269T>C (p.Tyr33423=)
c.97611T>C (p.Tyr32537=)
c.97530T>C (p.Tyr32510=)
c.79293T>C (p.Tyr26431=)
c.69147T>C (p.Tyr23049=)
 ClinVar dbSNP gnomAD v4
2g.178530093A>TCA349405527TTN,TTN-AS1c.98694T>A (p.Tyr32898Ter)
c.79779T>A (p.Tyr26593Ter)
c.79578T>A (p.Tyr26526Ter)
c.79203T>A (p.Tyr26401Ter)
c.106398T>A (p.Tyr35466Ter)
c.101475T>A (p.Tyr33825Ter)
n.446+6457A>T
n.220-5639A>T
c.105495T>A (p.Tyr35165Ter)
c.79389T>A (p.Tyr26463Ter)
c.79248T>A (p.Tyr26416Ter)
c.105291T>A (p.Tyr35097Ter)
c.100689T>A (p.Tyr33563Ter)
c.100686T>A (p.Tyr33562Ter)
c.97728T>A (p.Tyr32576Ter)
c.79344T>A (p.Tyr26448Ter)
c.100839T>A (p.Tyr33613Ter)
c.100836T>A (p.Tyr33612Ter)
c.100269T>A (p.Tyr33423Ter)
c.97611T>A (p.Tyr32537Ter)
c.97530T>A (p.Tyr32510Ter)
c.79293T>A (p.Tyr26431Ter)
c.69147T>A (p.Tyr23049Ter)
2g.178530094T>ACA349405529TTN,TTN-AS1c.98693A>T (p.Tyr32898Phe)
c.79778A>T (p.Tyr26593Phe)
c.79577A>T (p.Tyr26526Phe)
c.79202A>T (p.Tyr26401Phe)
c.106397A>T (p.Tyr35466Phe)
c.101474A>T (p.Tyr33825Phe)
n.446+6458T>A
n.220-5638T>A
c.105494A>T (p.Tyr35165Phe)
c.79388A>T (p.Tyr26463Phe)
c.79247A>T (p.Tyr26416Phe)
c.105290A>T (p.Tyr35097Phe)
c.100688A>T (p.Tyr33563Phe)
c.100685A>T (p.Tyr33562Phe)
c.97727A>T (p.Tyr32576Phe)
c.79343A>T (p.Tyr26448Phe)
c.100838A>T (p.Tyr33613Phe)
c.100835A>T (p.Tyr33612Phe)
c.100268A>T (p.Tyr33423Phe)
c.97610A>T (p.Tyr32537Phe)
c.97529A>T (p.Tyr32510Phe)
c.79292A>T (p.Tyr26431Phe)
c.69146A>T (p.Tyr23049Phe)
2g.178530094T>CCA349405532TTN,TTN-AS1c.98693A>G (p.Tyr32898Cys)
c.79778A>G (p.Tyr26593Cys)
c.79577A>G (p.Tyr26526Cys)
c.79202A>G (p.Tyr26401Cys)
c.106397A>G (p.Tyr35466Cys)
c.101474A>G (p.Tyr33825Cys)
n.446+6458T>C
n.220-5638T>C
c.105494A>G (p.Tyr35165Cys)
c.79388A>G (p.Tyr26463Cys)
c.79247A>G (p.Tyr26416Cys)
c.105290A>G (p.Tyr35097Cys)
c.100688A>G (p.Tyr33563Cys)
c.100685A>G (p.Tyr33562Cys)
c.97727A>G (p.Tyr32576Cys)
c.79343A>G (p.Tyr26448Cys)
c.100838A>G (p.Tyr33613Cys)
c.100835A>G (p.Tyr33612Cys)
c.100268A>G (p.Tyr33423Cys)
c.97610A>G (p.Tyr32537Cys)
c.97529A>G (p.Tyr32510Cys)
c.79292A>G (p.Tyr26431Cys)
c.69146A>G (p.Tyr23049Cys)
 ClinVar
2g.178530094T>GCA349405535TTN,TTN-AS1c.98693A>C (p.Tyr32898Ser)
c.79778A>C (p.Tyr26593Ser)
c.79577A>C (p.Tyr26526Ser)
c.79202A>C (p.Tyr26401Ser)
c.106397A>C (p.Tyr35466Ser)
c.101474A>C (p.Tyr33825Ser)
n.446+6458T>G
n.220-5638T>G
c.105494A>C (p.Tyr35165Ser)
c.79388A>C (p.Tyr26463Ser)
c.79247A>C (p.Tyr26416Ser)
c.105290A>C (p.Tyr35097Ser)
c.100688A>C (p.Tyr33563Ser)
c.100685A>C (p.Tyr33562Ser)
c.97727A>C (p.Tyr32576Ser)
c.79343A>C (p.Tyr26448Ser)
c.100838A>C (p.Tyr33613Ser)
c.100835A>C (p.Tyr33612Ser)
c.100268A>C (p.Tyr33423Ser)
c.97610A>C (p.Tyr32537Ser)
c.97529A>C (p.Tyr32510Ser)
c.79292A>C (p.Tyr26431Ser)
c.69146A>C (p.Tyr23049Ser)
2g.178530095A>CCA349405538TTN,TTN-AS1c.98692T>G (p.Tyr32898Asp)
c.79777T>G (p.Tyr26593Asp)
c.79576T>G (p.Tyr26526Asp)
c.79201T>G (p.Tyr26401Asp)
c.106396T>G (p.Tyr35466Asp)
c.101473T>G (p.Tyr33825Asp)
n.446+6459A>C
n.220-5637A>C
c.105493T>G (p.Tyr35165Asp)
c.79387T>G (p.Tyr26463Asp)
c.79246T>G (p.Tyr26416Asp)
c.105289T>G (p.Tyr35097Asp)
c.100687T>G (p.Tyr33563Asp)
c.100684T>G (p.Tyr33562Asp)
c.97726T>G (p.Tyr32576Asp)
c.79342T>G (p.Tyr26448Asp)
c.100837T>G (p.Tyr33613Asp)
c.100834T>G (p.Tyr33612Asp)
c.100267T>G (p.Tyr33423Asp)
c.97609T>G (p.Tyr32537Asp)
c.97528T>G (p.Tyr32510Asp)
c.79291T>G (p.Tyr26431Asp)
c.69145T>G (p.Tyr23049Asp)
2g.178530095A>GCA349405543TTN,TTN-AS1c.98692T>C (p.Tyr32898His)
c.79777T>C (p.Tyr26593His)
c.79576T>C (p.Tyr26526His)
c.79201T>C (p.Tyr26401His)
c.106396T>C (p.Tyr35466His)
c.101473T>C (p.Tyr33825His)
n.446+6459A>G
n.220-5637A>G
c.105493T>C (p.Tyr35165His)
c.79387T>C (p.Tyr26463His)
c.79246T>C (p.Tyr26416His)
c.105289T>C (p.Tyr35097His)
c.100687T>C (p.Tyr33563His)
c.100684T>C (p.Tyr33562His)
c.97726T>C (p.Tyr32576His)
c.79342T>C (p.Tyr26448His)
c.100837T>C (p.Tyr33613His)
c.100834T>C (p.Tyr33612His)
c.100267T>C (p.Tyr33423His)
c.97609T>C (p.Tyr32537His)
c.97528T>C (p.Tyr32510His)
c.79291T>C (p.Tyr26431His)
c.69145T>C (p.Tyr23049His)
2g.178530095A>TCA349405546TTN,TTN-AS1c.98692T>A (p.Tyr32898Asn)
c.79777T>A (p.Tyr26593Asn)
c.79576T>A (p.Tyr26526Asn)
c.79201T>A (p.Tyr26401Asn)
c.106396T>A (p.Tyr35466Asn)
c.101473T>A (p.Tyr33825Asn)
n.446+6459A>T
n.220-5637A>T
c.105493T>A (p.Tyr35165Asn)
c.79387T>A (p.Tyr26463Asn)
c.79246T>A (p.Tyr26416Asn)
c.105289T>A (p.Tyr35097Asn)
c.100687T>A (p.Tyr33563Asn)
c.100684T>A (p.Tyr33562Asn)
c.97726T>A (p.Tyr32576Asn)
c.79342T>A (p.Tyr26448Asn)
c.100837T>A (p.Tyr33613Asn)
c.100834T>A (p.Tyr33612Asn)
c.100267T>A (p.Tyr33423Asn)
c.97609T>A (p.Tyr32537Asn)
c.97528T>A (p.Tyr32510Asn)
c.79291T>A (p.Tyr26431Asn)
c.69145T>A (p.Tyr23049Asn)
2g.178530096T>ACA349405549TTN,TTN-AS1c.98691A>T (p.Lys32897Asn)
c.79776A>T (p.Lys26592Asn)
c.79575A>T (p.Lys26525Asn)
c.79200A>T (p.Lys26400Asn)
c.106395A>T (p.Lys35465Asn)
c.101472A>T (p.Lys33824Asn)
n.446+6460T>A
n.220-5636T>A
c.105492A>T (p.Lys35164Asn)
c.79386A>T (p.Lys26462Asn)
c.79245A>T (p.Lys26415Asn)
c.105288A>T (p.Lys35096Asn)
c.100686A>T (p.Lys33562Asn)
c.100683A>T (p.Lys33561Asn)
c.97725A>T (p.Lys32575Asn)
c.79341A>T (p.Lys26447Asn)
c.100836A>T (p.Lys33612Asn)
c.100833A>T (p.Lys33611Asn)
c.100266A>T (p.Lys33422Asn)
c.97608A>T (p.Lys32536Asn)
c.97527A>T (p.Lys32509Asn)
c.79290A>T (p.Lys26430Asn)
c.69144A>T (p.Lys23048Asn)
2g.178530096T>CCA430094035TTN,TTN-AS1c.98691A>G (p.Lys32897=)
c.79776A>G (p.Lys26592=)
c.79575A>G (p.Lys26525=)
c.79200A>G (p.Lys26400=)
c.106395A>G (p.Lys35465=)
c.101472A>G (p.Lys33824=)
n.446+6460T>C
n.220-5636T>C
c.105492A>G (p.Lys35164=)
c.79386A>G (p.Lys26462=)
c.79245A>G (p.Lys26415=)
c.105288A>G (p.Lys35096=)
c.100686A>G (p.Lys33562=)
c.100683A>G (p.Lys33561=)
c.97725A>G (p.Lys32575=)
c.79341A>G (p.Lys26447=)
c.100836A>G (p.Lys33612=)
c.100833A>G (p.Lys33611=)
c.100266A>G (p.Lys33422=)
c.97608A>G (p.Lys32536=)
c.97527A>G (p.Lys32509=)
c.79290A>G (p.Lys26430=)
c.69144A>G (p.Lys23048=)
2g.178530096T>GCA349405550TTN,TTN-AS1c.98691A>C (p.Lys32897Asn)
c.79776A>C (p.Lys26592Asn)
c.79575A>C (p.Lys26525Asn)
c.79200A>C (p.Lys26400Asn)
c.106395A>C (p.Lys35465Asn)
c.101472A>C (p.Lys33824Asn)
n.446+6460T>G
n.220-5636T>G
c.105492A>C (p.Lys35164Asn)
c.79386A>C (p.Lys26462Asn)
c.79245A>C (p.Lys26415Asn)
c.105288A>C (p.Lys35096Asn)
c.100686A>C (p.Lys33562Asn)
c.100683A>C (p.Lys33561Asn)
c.97725A>C (p.Lys32575Asn)
c.79341A>C (p.Lys26447Asn)
c.100836A>C (p.Lys33612Asn)
c.100833A>C (p.Lys33611Asn)
c.100266A>C (p.Lys33422Asn)
c.97608A>C (p.Lys32536Asn)
c.97527A>C (p.Lys32509Asn)
c.79290A>C (p.Lys26430Asn)
c.69144A>C (p.Lys23048Asn)
2g.178530097T>ACA349405559TTN,TTN-AS1c.98690A>T (p.Lys32897Ile)
c.79775A>T (p.Lys26592Ile)
c.79574A>T (p.Lys26525Ile)
c.79199A>T (p.Lys26400Ile)
c.106394A>T (p.Lys35465Ile)
c.101471A>T (p.Lys33824Ile)
n.446+6461T>A
n.220-5635T>A
c.105491A>T (p.Lys35164Ile)
c.79385A>T (p.Lys26462Ile)
c.79244A>T (p.Lys26415Ile)
c.105287A>T (p.Lys35096Ile)
c.100685A>T (p.Lys33562Ile)
c.100682A>T (p.Lys33561Ile)
c.97724A>T (p.Lys32575Ile)
c.79340A>T (p.Lys26447Ile)
c.100835A>T (p.Lys33612Ile)
c.100832A>T (p.Lys33611Ile)
c.100265A>T (p.Lys33422Ile)
c.97607A>T (p.Lys32536Ile)
c.97526A>T (p.Lys32509Ile)
c.79289A>T (p.Lys26430Ile)
c.69143A>T (p.Lys23048Ile)
2g.178530097T>CCA349405555TTN,TTN-AS1c.98690A>G (p.Lys32897Arg)
c.79775A>G (p.Lys26592Arg)
c.79574A>G (p.Lys26525Arg)
c.79199A>G (p.Lys26400Arg)
c.106394A>G (p.Lys35465Arg)
c.101471A>G (p.Lys33824Arg)
n.446+6461T>C
n.220-5635T>C
c.105491A>G (p.Lys35164Arg)
c.79385A>G (p.Lys26462Arg)
c.79244A>G (p.Lys26415Arg)
c.105287A>G (p.Lys35096Arg)
c.100685A>G (p.Lys33562Arg)
c.100682A>G (p.Lys33561Arg)
c.97724A>G (p.Lys32575Arg)
c.79340A>G (p.Lys26447Arg)
c.100835A>G (p.Lys33612Arg)
c.100832A>G (p.Lys33611Arg)
c.100265A>G (p.Lys33422Arg)
c.97607A>G (p.Lys32536Arg)
c.97526A>G (p.Lys32509Arg)
c.79289A>G (p.Lys26430Arg)
c.69143A>G (p.Lys23048Arg)
2g.178530097T>GCA349405556TTN,TTN-AS1c.98690A>C (p.Lys32897Thr)
c.79775A>C (p.Lys26592Thr)
c.79574A>C (p.Lys26525Thr)
c.79199A>C (p.Lys26400Thr)
c.106394A>C (p.Lys35465Thr)
c.101471A>C (p.Lys33824Thr)
n.446+6461T>G
n.220-5635T>G
c.105491A>C (p.Lys35164Thr)
c.79385A>C (p.Lys26462Thr)
c.79244A>C (p.Lys26415Thr)
c.105287A>C (p.Lys35096Thr)
c.100685A>C (p.Lys33562Thr)
c.100682A>C (p.Lys33561Thr)
c.97724A>C (p.Lys32575Thr)
c.79340A>C (p.Lys26447Thr)
c.100835A>C (p.Lys33612Thr)
c.100832A>C (p.Lys33611Thr)
c.100265A>C (p.Lys33422Thr)
c.97607A>C (p.Lys32536Thr)
c.97526A>C (p.Lys32509Thr)
c.79289A>C (p.Lys26430Thr)
c.69143A>C (p.Lys23048Thr)
 dbSNP gnomAD v3 gnomAD v4
2g.178530097T=CA1310511475TTN,TTN-AS1c.98690A= (p.Lys32897=)
c.79775A= (p.Lys26592=)
c.79574A= (p.Lys26525=)
c.79199A= (p.Lys26400=)
c.106394A= (p.Lys35465=)
c.101471A= (p.Lys33824=)
n.446+6461T=
n.220-5635T=
c.105491A= (p.Lys35164=)
c.79385A= (p.Lys26462=)
c.79244A= (p.Lys26415=)
c.105287A= (p.Lys35096=)
c.100685A= (p.Lys33562=)
c.100682A= (p.Lys33561=)
c.97724A= (p.Lys32575=)
c.79340A= (p.Lys26447=)
c.100835A= (p.Lys33612=)
c.100832A= (p.Lys33611=)
c.100265A= (p.Lys33422=)
c.97607A= (p.Lys32536=)
c.97526A= (p.Lys32509=)
c.79289A= (p.Lys26430=)
c.69143A= (p.Lys23048=)
2g.178530098T>ACA349405560TTN,TTN-AS1c.98689A>T (p.Lys32897Ter)
c.79774A>T (p.Lys26592Ter)
c.79573A>T (p.Lys26525Ter)
c.79198A>T (p.Lys26400Ter)
c.106393A>T (p.Lys35465Ter)
c.101470A>T (p.Lys33824Ter)
n.446+6462T>A
n.220-5634T>A
c.105490A>T (p.Lys35164Ter)
c.79384A>T (p.Lys26462Ter)
c.79243A>T (p.Lys26415Ter)
c.105286A>T (p.Lys35096Ter)
c.100684A>T (p.Lys33562Ter)
c.100681A>T (p.Lys33561Ter)
c.97723A>T (p.Lys32575Ter)
c.79339A>T (p.Lys26447Ter)
c.100834A>T (p.Lys33612Ter)
c.100831A>T (p.Lys33611Ter)
c.100264A>T (p.Lys33422Ter)
c.97606A>T (p.Lys32536Ter)
c.97525A>T (p.Lys32509Ter)
c.79288A>T (p.Lys26430Ter)
c.69142A>T (p.Lys23048Ter)
2g.178530098T>CCA349405562TTN,TTN-AS1c.98689A>G (p.Lys32897Glu)
c.79774A>G (p.Lys26592Glu)
c.79573A>G (p.Lys26525Glu)
c.79198A>G (p.Lys26400Glu)
c.106393A>G (p.Lys35465Glu)
c.101470A>G (p.Lys33824Glu)
n.446+6462T>C
n.220-5634T>C
c.105490A>G (p.Lys35164Glu)
c.79384A>G (p.Lys26462Glu)
c.79243A>G (p.Lys26415Glu)
c.105286A>G (p.Lys35096Glu)
c.100684A>G (p.Lys33562Glu)
c.100681A>G (p.Lys33561Glu)
c.97723A>G (p.Lys32575Glu)
c.79339A>G (p.Lys26447Glu)
c.100834A>G (p.Lys33612Glu)
c.100831A>G (p.Lys33611Glu)
c.100264A>G (p.Lys33422Glu)
c.97606A>G (p.Lys32536Glu)
c.97525A>G (p.Lys32509Glu)
c.79288A>G (p.Lys26430Glu)
c.69142A>G (p.Lys23048Glu)
2g.178530098T>GCA349405565TTN,TTN-AS1c.98689A>C (p.Lys32897Gln)
c.79774A>C (p.Lys26592Gln)
c.79573A>C (p.Lys26525Gln)
c.79198A>C (p.Lys26400Gln)
c.106393A>C (p.Lys35465Gln)
c.101470A>C (p.Lys33824Gln)
n.446+6462T>G
n.220-5634T>G
c.105490A>C (p.Lys35164Gln)
c.79384A>C (p.Lys26462Gln)
c.79243A>C (p.Lys26415Gln)
c.105286A>C (p.Lys35096Gln)
c.100684A>C (p.Lys33562Gln)
c.100681A>C (p.Lys33561Gln)
c.97723A>C (p.Lys32575Gln)
c.79339A>C (p.Lys26447Gln)
c.100834A>C (p.Lys33612Gln)
c.100831A>C (p.Lys33611Gln)
c.100264A>C (p.Lys33422Gln)
c.97606A>C (p.Lys32536Gln)
c.97525A>C (p.Lys32509Gln)
c.79288A>C (p.Lys26430Gln)
c.69142A>C (p.Lys23048Gln)
2g.178530099A>CCA430094057TTN,TTN-AS1c.98688T>G (p.Gly32896=)
c.79773T>G (p.Gly26591=)
c.79572T>G (p.Gly26524=)
c.79197T>G (p.Gly26399=)
c.106392T>G (p.Gly35464=)
c.101469T>G (p.Gly33823=)
n.446+6463A>C
n.220-5633A>C
c.105489T>G (p.Gly35163=)
c.79383T>G (p.Gly26461=)
c.79242T>G (p.Gly26414=)
c.105285T>G (p.Gly35095=)
c.100683T>G (p.Gly33561=)
c.100680T>G (p.Gly33560=)
c.97722T>G (p.Gly32574=)
c.79338T>G (p.Gly26446=)
c.100833T>G (p.Gly33611=)
c.100830T>G (p.Gly33610=)
c.100263T>G (p.Gly33421=)
c.97605T>G (p.Gly32535=)
c.97524T>G (p.Gly32508=)
c.79287T>G (p.Gly26429=)
c.69141T>G (p.Gly23047=)
 ClinVar
2g.178530099A>GCA430094058TTN,TTN-AS1c.98688T>C (p.Gly32896=)
c.79773T>C (p.Gly26591=)
c.79572T>C (p.Gly26524=)
c.79197T>C (p.Gly26399=)
c.106392T>C (p.Gly35464=)
c.101469T>C (p.Gly33823=)
n.446+6463A>G
n.220-5633A>G
c.105489T>C (p.Gly35163=)
c.79383T>C (p.Gly26461=)
c.79242T>C (p.Gly26414=)
c.105285T>C (p.Gly35095=)
c.100683T>C (p.Gly33561=)
c.100680T>C (p.Gly33560=)
c.97722T>C (p.Gly32574=)
c.79338T>C (p.Gly26446=)
c.100833T>C (p.Gly33611=)
c.100830T>C (p.Gly33610=)
c.100263T>C (p.Gly33421=)
c.97605T>C (p.Gly32535=)
c.97524T>C (p.Gly32508=)
c.79287T>C (p.Gly26429=)
c.69141T>C (p.Gly23047=)
 gnomAD v4
2g.178530099A>TCA430094059TTN,TTN-AS1c.98688T>A (p.Gly32896=)
c.79773T>A (p.Gly26591=)
c.79572T>A (p.Gly26524=)
c.79197T>A (p.Gly26399=)
c.106392T>A (p.Gly35464=)
c.101469T>A (p.Gly33823=)
n.446+6463A>T
n.220-5633A>T
c.105489T>A (p.Gly35163=)
c.79383T>A (p.Gly26461=)
c.79242T>A (p.Gly26414=)
c.105285T>A (p.Gly35095=)
c.100683T>A (p.Gly33561=)
c.100680T>A (p.Gly33560=)
c.97722T>A (p.Gly32574=)
c.79338T>A (p.Gly26446=)
c.100833T>A (p.Gly33611=)
c.100830T>A (p.Gly33610=)
c.100263T>A (p.Gly33421=)
c.97605T>A (p.Gly32535=)
c.97524T>A (p.Gly32508=)
c.79287T>A (p.Gly26429=)
c.69141T>A (p.Gly23047=)
2g.178530100C>ACA349405572TTN,TTN-AS1c.98687G>T (p.Gly32896Val)
c.79772G>T (p.Gly26591Val)
c.79571G>T (p.Gly26524Val)
c.79196G>T (p.Gly26399Val)
c.106391G>T (p.Gly35464Val)
c.101468G>T (p.Gly33823Val)
n.446+6464C>A
n.220-5632C>A
c.105488G>T (p.Gly35163Val)
c.79382G>T (p.Gly26461Val)
c.79241G>T (p.Gly26414Val)
c.105284G>T (p.Gly35095Val)
c.100682G>T (p.Gly33561Val)
c.100679G>T (p.Gly33560Val)
c.97721G>T (p.Gly32574Val)
c.79337G>T (p.Gly26446Val)
c.100832G>T (p.Gly33611Val)
c.100829G>T (p.Gly33610Val)
c.100262G>T (p.Gly33421Val)
c.97604G>T (p.Gly32535Val)
c.97523G>T (p.Gly32508Val)
c.79286G>T (p.Gly26429Val)
c.69140G>T (p.Gly23047Val)
2g.178530100C=CA1310511479TTN,TTN-AS1c.98687G= (p.Gly32896=)
c.79772G= (p.Gly26591=)
c.79571G= (p.Gly26524=)
c.79196G= (p.Gly26399=)
c.106391G= (p.Gly35464=)
c.101468G= (p.Gly33823=)
n.446+6464C=
n.220-5632C=
c.105488G= (p.Gly35163=)
c.79382G= (p.Gly26461=)
c.79241G= (p.Gly26414=)
c.105284G= (p.Gly35095=)
c.100682G= (p.Gly33561=)
c.100679G= (p.Gly33560=)
c.97721G= (p.Gly32574=)
c.79337G= (p.Gly26446=)
c.100832G= (p.Gly33611=)
c.100829G= (p.Gly33610=)
c.100262G= (p.Gly33421=)
c.97604G= (p.Gly32535=)
c.97523G= (p.Gly32508=)
c.79286G= (p.Gly26429=)
c.69140G= (p.Gly23047=)
2g.178530100C>GCA349405573TTN,TTN-AS1c.98687G>C (p.Gly32896Ala)
c.79772G>C (p.Gly26591Ala)
c.79571G>C (p.Gly26524Ala)
c.79196G>C (p.Gly26399Ala)
c.106391G>C (p.Gly35464Ala)
c.101468G>C (p.Gly33823Ala)
n.446+6464C>G
n.220-5632C>G
c.105488G>C (p.Gly35163Ala)
c.79382G>C (p.Gly26461Ala)
c.79241G>C (p.Gly26414Ala)
c.105284G>C (p.Gly35095Ala)
c.100682G>C (p.Gly33561Ala)
c.100679G>C (p.Gly33560Ala)
c.97721G>C (p.Gly32574Ala)
c.79337G>C (p.Gly26446Ala)
c.100832G>C (p.Gly33611Ala)
c.100829G>C (p.Gly33610Ala)
c.100262G>C (p.Gly33421Ala)
c.97604G>C (p.Gly32535Ala)
c.97523G>C (p.Gly32508Ala)
c.79286G>C (p.Gly26429Ala)
c.69140G>C (p.Gly23047Ala)
2g.178530100C>TCA1985111TTN,TTN-AS1c.98687G>A (p.Gly32896Asp)
c.79772G>A (p.Gly26591Asp)
c.79571G>A (p.Gly26524Asp)
c.79196G>A (p.Gly26399Asp)
c.106391G>A (p.Gly35464Asp)
c.101468G>A (p.Gly33823Asp)
n.446+6464C>T
n.220-5632C>T
c.105488G>A (p.Gly35163Asp)
c.79382G>A (p.Gly26461Asp)
c.79241G>A (p.Gly26414Asp)
c.105284G>A (p.Gly35095Asp)
c.100682G>A (p.Gly33561Asp)
c.100679G>A (p.Gly33560Asp)
c.97721G>A (p.Gly32574Asp)
c.79337G>A (p.Gly26446Asp)
c.100832G>A (p.Gly33611Asp)
c.100829G>A (p.Gly33610Asp)
c.100262G>A (p.Gly33421Asp)
c.97604G>A (p.Gly32535Asp)
c.97523G>A (p.Gly32508Asp)
c.79286G>A (p.Gly26429Asp)
c.69140G>A (p.Gly23047Asp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178530101C>ACA349405575TTN,TTN-AS1c.98686G>T (p.Gly32896Cys)
c.79771G>T (p.Gly26591Cys)
c.79570G>T (p.Gly26524Cys)
c.79195G>T (p.Gly26399Cys)
c.106390G>T (p.Gly35464Cys)
c.101467G>T (p.Gly33823Cys)
n.446+6465C>A
n.220-5631C>A
c.105487G>T (p.Gly35163Cys)
c.79381G>T (p.Gly26461Cys)
c.79240G>T (p.Gly26414Cys)
c.105283G>T (p.Gly35095Cys)
c.100681G>T (p.Gly33561Cys)
c.100678G>T (p.Gly33560Cys)
c.97720G>T (p.Gly32574Cys)
c.79336G>T (p.Gly26446Cys)
c.100831G>T (p.Gly33611Cys)
c.100828G>T (p.Gly33610Cys)
c.100261G>T (p.Gly33421Cys)
c.97603G>T (p.Gly32535Cys)
c.97522G>T (p.Gly32508Cys)
c.79285G>T (p.Gly26429Cys)
c.69139G>T (p.Gly23047Cys)
2g.178530101C>GCA349405578TTN,TTN-AS1c.98686G>C (p.Gly32896Arg)
c.79771G>C (p.Gly26591Arg)
c.79570G>C (p.Gly26524Arg)
c.79195G>C (p.Gly26399Arg)
c.106390G>C (p.Gly35464Arg)
c.101467G>C (p.Gly33823Arg)
n.446+6465C>G
n.220-5631C>G
c.105487G>C (p.Gly35163Arg)
c.79381G>C (p.Gly26461Arg)
c.79240G>C (p.Gly26414Arg)
c.105283G>C (p.Gly35095Arg)
c.100681G>C (p.Gly33561Arg)
c.100678G>C (p.Gly33560Arg)
c.97720G>C (p.Gly32574Arg)
c.79336G>C (p.Gly26446Arg)
c.100831G>C (p.Gly33611Arg)
c.100828G>C (p.Gly33610Arg)
c.100261G>C (p.Gly33421Arg)
c.97603G>C (p.Gly32535Arg)
c.97522G>C (p.Gly32508Arg)
c.79285G>C (p.Gly26429Arg)
c.69139G>C (p.Gly23047Arg)
 gnomAD v4
2g.178530101C>TCA349405580TTN,TTN-AS1c.98686G>A (p.Gly32896Ser)
c.79771G>A (p.Gly26591Ser)
c.79570G>A (p.Gly26524Ser)
c.79195G>A (p.Gly26399Ser)
c.106390G>A (p.Gly35464Ser)
c.101467G>A (p.Gly33823Ser)
n.446+6465C>T
n.220-5631C>T
c.105487G>A (p.Gly35163Ser)
c.79381G>A (p.Gly26461Ser)
c.79240G>A (p.Gly26414Ser)
c.105283G>A (p.Gly35095Ser)
c.100681G>A (p.Gly33561Ser)
c.100678G>A (p.Gly33560Ser)
c.97720G>A (p.Gly32574Ser)
c.79336G>A (p.Gly26446Ser)
c.100831G>A (p.Gly33611Ser)
c.100828G>A (p.Gly33610Ser)
c.100261G>A (p.Gly33421Ser)
c.97603G>A (p.Gly32535Ser)
c.97522G>A (p.Gly32508Ser)
c.79285G>A (p.Gly26429Ser)
c.69139G>A (p.Gly23047Ser)
2g.178530102T>ACA430094083TTN,TTN-AS1c.98685A>T (p.Gly32895=)
c.79770A>T (p.Gly26590=)
c.79569A>T (p.Gly26523=)
c.79194A>T (p.Gly26398=)
c.106389A>T (p.Gly35463=)
c.101466A>T (p.Gly33822=)
n.446+6466T>A
n.220-5630T>A
c.105486A>T (p.Gly35162=)
c.79380A>T (p.Gly26460=)
c.79239A>T (p.Gly26413=)
c.105282A>T (p.Gly35094=)
c.100680A>T (p.Gly33560=)
c.100677A>T (p.Gly33559=)
c.97719A>T (p.Gly32573=)
c.79335A>T (p.Gly26445=)
c.100830A>T (p.Gly33610=)
c.100827A>T (p.Gly33609=)
c.100260A>T (p.Gly33420=)
c.97602A>T (p.Gly32534=)
c.97521A>T (p.Gly32507=)
c.79284A>T (p.Gly26428=)
c.69138A>T (p.Gly23046=)
 dbSNP gnomAD v2 gnomAD v4
2g.178530102T>CCA430094084TTN,TTN-AS1c.98685A>G (p.Gly32895=)
c.79770A>G (p.Gly26590=)
c.79569A>G (p.Gly26523=)
c.79194A>G (p.Gly26398=)
c.106389A>G (p.Gly35463=)
c.101466A>G (p.Gly33822=)
n.446+6466T>C
n.220-5630T>C
c.105486A>G (p.Gly35162=)
c.79380A>G (p.Gly26460=)
c.79239A>G (p.Gly26413=)
c.105282A>G (p.Gly35094=)
c.100680A>G (p.Gly33560=)
c.100677A>G (p.Gly33559=)
c.97719A>G (p.Gly32573=)
c.79335A>G (p.Gly26445=)
c.100830A>G (p.Gly33610=)
c.100827A>G (p.Gly33609=)
c.100260A>G (p.Gly33420=)
c.97602A>G (p.Gly32534=)
c.97521A>G (p.Gly32507=)
c.79284A>G (p.Gly26428=)
c.69138A>G (p.Gly23046=)
 gnomAD v4
2g.178530102T>GCA430094085TTN,TTN-AS1c.98685A>C (p.Gly32895=)
c.79770A>C (p.Gly26590=)
c.79569A>C (p.Gly26523=)
c.79194A>C (p.Gly26398=)
c.106389A>C (p.Gly35463=)
c.101466A>C (p.Gly33822=)
n.446+6466T>G
n.220-5630T>G
c.105486A>C (p.Gly35162=)
c.79380A>C (p.Gly26460=)
c.79239A>C (p.Gly26413=)
c.105282A>C (p.Gly35094=)
c.100680A>C (p.Gly33560=)
c.100677A>C (p.Gly33559=)
c.97719A>C (p.Gly32573=)
c.79335A>C (p.Gly26445=)
c.100830A>C (p.Gly33610=)
c.100827A>C (p.Gly33609=)
c.100260A>C (p.Gly33420=)
c.97602A>C (p.Gly32534=)
c.97521A>C (p.Gly32507=)
c.79284A>C (p.Gly26428=)
c.69138A>C (p.Gly23046=)
2g.178530102T=CA1310511483TTN,TTN-AS1c.98685A= (p.Gly32895=)
c.79770A= (p.Gly26590=)
c.79569A= (p.Gly26523=)
c.79194A= (p.Gly26398=)
c.106389A= (p.Gly35463=)
c.101466A= (p.Gly33822=)
n.446+6466T=
n.220-5630T=
c.105486A= (p.Gly35162=)
c.79380A= (p.Gly26460=)
c.79239A= (p.Gly26413=)
c.105282A= (p.Gly35094=)
c.100680A= (p.Gly33560=)
c.100677A= (p.Gly33559=)
c.97719A= (p.Gly32573=)
c.79335A= (p.Gly26445=)
c.100830A= (p.Gly33610=)
c.100827A= (p.Gly33609=)
c.100260A= (p.Gly33420=)
c.97602A= (p.Gly32534=)
c.97521A= (p.Gly32507=)
c.79284A= (p.Gly26428=)
c.69138A= (p.Gly23046=)
2g.178530103C>ACA349405582TTN,TTN-AS1c.98684G>T (p.Gly32895Val)
c.79769G>T (p.Gly26590Val)
c.79568G>T (p.Gly26523Val)
c.79193G>T (p.Gly26398Val)
c.106388G>T (p.Gly35463Val)
c.101465G>T (p.Gly33822Val)
n.446+6467C>A
n.220-5629C>A
c.105485G>T (p.Gly35162Val)
c.79379G>T (p.Gly26460Val)
c.79238G>T (p.Gly26413Val)
c.105281G>T (p.Gly35094Val)
c.100679G>T (p.Gly33560Val)
c.100676G>T (p.Gly33559Val)
c.97718G>T (p.Gly32573Val)
c.79334G>T (p.Gly26445Val)
c.100829G>T (p.Gly33610Val)
c.100826G>T (p.Gly33609Val)
c.100259G>T (p.Gly33420Val)
c.97601G>T (p.Gly32534Val)
c.97520G>T (p.Gly32507Val)
c.79283G>T (p.Gly26428Val)
c.69137G>T (p.Gly23046Val)
2g.178530103C=CA1310511487TTN,TTN-AS1c.98684G= (p.Gly32895=)
c.79769G= (p.Gly26590=)
c.79568G= (p.Gly26523=)
c.79193G= (p.Gly26398=)
c.106388G= (p.Gly35463=)
c.101465G= (p.Gly33822=)
n.446+6467C=
n.220-5629C=
c.105485G= (p.Gly35162=)
c.79379G= (p.Gly26460=)
c.79238G= (p.Gly26413=)
c.105281G= (p.Gly35094=)
c.100679G= (p.Gly33560=)
c.100676G= (p.Gly33559=)
c.97718G= (p.Gly32573=)
c.79334G= (p.Gly26445=)
c.100829G= (p.Gly33610=)
c.100826G= (p.Gly33609=)
c.100259G= (p.Gly33420=)
c.97601G= (p.Gly32534=)
c.97520G= (p.Gly32507=)
c.79283G= (p.Gly26428=)
c.69137G= (p.Gly23046=)
2g.178530103C>GCA1985112TTN,TTN-AS1c.98684G>C (p.Gly32895Ala)
c.79769G>C (p.Gly26590Ala)
c.79568G>C (p.Gly26523Ala)
c.79193G>C (p.Gly26398Ala)
c.106388G>C (p.Gly35463Ala)
c.101465G>C (p.Gly33822Ala)
n.446+6467C>G
n.220-5629C>G
c.105485G>C (p.Gly35162Ala)
c.79379G>C (p.Gly26460Ala)
c.79238G>C (p.Gly26413Ala)
c.105281G>C (p.Gly35094Ala)
c.100679G>C (p.Gly33560Ala)
c.100676G>C (p.Gly33559Ala)
c.97718G>C (p.Gly32573Ala)
c.79334G>C (p.Gly26445Ala)
c.100829G>C (p.Gly33610Ala)
c.100826G>C (p.Gly33609Ala)
c.100259G>C (p.Gly33420Ala)
c.97601G>C (p.Gly32534Ala)
c.97520G>C (p.Gly32507Ala)
c.79283G>C (p.Gly26428Ala)
c.69137G>C (p.Gly23046Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178530103C>TCA349405585TTN,TTN-AS1c.98684G>A (p.Gly32895Glu)
c.79769G>A (p.Gly26590Glu)
c.79568G>A (p.Gly26523Glu)
c.79193G>A (p.Gly26398Glu)
c.106388G>A (p.Gly35463Glu)
c.101465G>A (p.Gly33822Glu)
n.446+6467C>T
n.220-5629C>T
c.105485G>A (p.Gly35162Glu)
c.79379G>A (p.Gly26460Glu)
c.79238G>A (p.Gly26413Glu)
c.105281G>A (p.Gly35094Glu)
c.100679G>A (p.Gly33560Glu)
c.100676G>A (p.Gly33559Glu)
c.97718G>A (p.Gly32573Glu)
c.79334G>A (p.Gly26445Glu)
c.100829G>A (p.Gly33610Glu)
c.100826G>A (p.Gly33609Glu)
c.100259G>A (p.Gly33420Glu)
c.97601G>A (p.Gly32534Glu)
c.97520G>A (p.Gly32507Glu)
c.79283G>A (p.Gly26428Glu)
c.69137G>A (p.Gly23046Glu)
2g.178530104C>ACA349405592TTN,TTN-AS1c.98683G>T (p.Gly32895Ter)
c.79768G>T (p.Gly26590Ter)
c.79567G>T (p.Gly26523Ter)
c.79192G>T (p.Gly26398Ter)
c.106387G>T (p.Gly35463Ter)
c.101464G>T (p.Gly33822Ter)
n.446+6468C>A
n.220-5628C>A
c.105484G>T (p.Gly35162Ter)
c.79378G>T (p.Gly26460Ter)
c.79237G>T (p.Gly26413Ter)
c.105280G>T (p.Gly35094Ter)
c.100678G>T (p.Gly33560Ter)
c.100675G>T (p.Gly33559Ter)
c.97717G>T (p.Gly32573Ter)
c.79333G>T (p.Gly26445Ter)
c.100828G>T (p.Gly33610Ter)
c.100825G>T (p.Gly33609Ter)
c.100258G>T (p.Gly33420Ter)
c.97600G>T (p.Gly32534Ter)
c.97519G>T (p.Gly32507Ter)
c.79282G>T (p.Gly26428Ter)
c.69136G>T (p.Gly23046Ter)
2g.178530104C=CA1310511491TTN,TTN-AS1c.98683G= (p.Gly32895=)
c.79768G= (p.Gly26590=)
c.79567G= (p.Gly26523=)
c.79192G= (p.Gly26398=)
c.106387G= (p.Gly35463=)
c.101464G= (p.Gly33822=)
n.446+6468C=
n.220-5628C=
c.105484G= (p.Gly35162=)
c.79378G= (p.Gly26460=)
c.79237G= (p.Gly26413=)
c.105280G= (p.Gly35094=)
c.100678G= (p.Gly33560=)
c.100675G= (p.Gly33559=)
c.97717G= (p.Gly32573=)
c.79333G= (p.Gly26445=)
c.100828G= (p.Gly33610=)
c.100825G= (p.Gly33609=)
c.100258G= (p.Gly33420=)
c.97600G= (p.Gly32534=)
c.97519G= (p.Gly32507=)
c.79282G= (p.Gly26428=)
c.69136G= (p.Gly23046=)
2g.178530104C>GCA349405590TTN,TTN-AS1c.98683G>C (p.Gly32895Arg)
c.79768G>C (p.Gly26590Arg)
c.79567G>C (p.Gly26523Arg)
c.79192G>C (p.Gly26398Arg)
c.106387G>C (p.Gly35463Arg)
c.101464G>C (p.Gly33822Arg)
n.446+6468C>G
n.220-5628C>G
c.105484G>C (p.Gly35162Arg)
c.79378G>C (p.Gly26460Arg)
c.79237G>C (p.Gly26413Arg)
c.105280G>C (p.Gly35094Arg)
c.100678G>C (p.Gly33560Arg)
c.100675G>C (p.Gly33559Arg)
c.97717G>C (p.Gly32573Arg)
c.79333G>C (p.Gly26445Arg)
c.100828G>C (p.Gly33610Arg)
c.100825G>C (p.Gly33609Arg)
c.100258G>C (p.Gly33420Arg)
c.97600G>C (p.Gly32534Arg)
c.97519G>C (p.Gly32507Arg)
c.79282G>C (p.Gly26428Arg)
c.69136G>C (p.Gly23046Arg)
2g.178530104C>TCA349405587TTN,TTN-AS1c.98683G>A (p.Gly32895Arg)
c.79768G>A (p.Gly26590Arg)
c.79567G>A (p.Gly26523Arg)
c.79192G>A (p.Gly26398Arg)
c.106387G>A (p.Gly35463Arg)
c.101464G>A (p.Gly33822Arg)
n.446+6468C>T
n.220-5628C>T
c.105484G>A (p.Gly35162Arg)
c.79378G>A (p.Gly26460Arg)
c.79237G>A (p.Gly26413Arg)
c.105280G>A (p.Gly35094Arg)
c.100678G>A (p.Gly33560Arg)
c.100675G>A (p.Gly33559Arg)
c.97717G>A (p.Gly32573Arg)
c.79333G>A (p.Gly26445Arg)
c.100828G>A (p.Gly33610Arg)
c.100825G>A (p.Gly33609Arg)
c.100258G>A (p.Gly33420Arg)
c.97600G>A (p.Gly32534Arg)
c.97519G>A (p.Gly32507Arg)
c.79282G>A (p.Gly26428Arg)
c.69136G>A (p.Gly23046Arg)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.178530105T>ACA349405594TTN,TTN-AS1c.98682A>T (p.Gln32894His)
c.79767A>T (p.Gln26589His)
c.79566A>T (p.Gln26522His)
c.79191A>T (p.Gln26397His)
c.106386A>T (p.Gln35462His)
c.101463A>T (p.Gln33821His)
n.446+6469T>A
n.220-5627T>A
c.105483A>T (p.Gln35161His)
c.79377A>T (p.Gln26459His)
c.79236A>T (p.Gln26412His)
c.105279A>T (p.Gln35093His)
c.100677A>T (p.Gln33559His)
c.100674A>T (p.Gln33558His)
c.97716A>T (p.Gln32572His)
c.79332A>T (p.Gln26444His)
c.100827A>T (p.Gln33609His)
c.100824A>T (p.Gln33608His)
c.100257A>T (p.Gln33419His)
c.97599A>T (p.Gln32533His)
c.97518A>T (p.Gln32506His)
c.79281A>T (p.Gln26427His)
c.69135A>T (p.Gln23045His)
2g.178530105T>CCA430094098TTN,TTN-AS1c.98682A>G (p.Gln32894=)
c.79767A>G (p.Gln26589=)
c.79566A>G (p.Gln26522=)
c.79191A>G (p.Gln26397=)
c.106386A>G (p.Gln35462=)
c.101463A>G (p.Gln33821=)
n.446+6469T>C
n.220-5627T>C
c.105483A>G (p.Gln35161=)
c.79377A>G (p.Gln26459=)
c.79236A>G (p.Gln26412=)
c.105279A>G (p.Gln35093=)
c.100677A>G (p.Gln33559=)
c.100674A>G (p.Gln33558=)
c.97716A>G (p.Gln32572=)
c.79332A>G (p.Gln26444=)
c.100827A>G (p.Gln33609=)
c.100824A>G (p.Gln33608=)
c.100257A>G (p.Gln33419=)
c.97599A>G (p.Gln32533=)
c.97518A>G (p.Gln32506=)
c.79281A>G (p.Gln26427=)
c.69135A>G (p.Gln23045=)
2g.178530105T>GCA349405596TTN,TTN-AS1c.98682A>C (p.Gln32894His)
c.79767A>C (p.Gln26589His)
c.79566A>C (p.Gln26522His)
c.79191A>C (p.Gln26397His)
c.106386A>C (p.Gln35462His)
c.101463A>C (p.Gln33821His)
n.446+6469T>G
n.220-5627T>G
c.105483A>C (p.Gln35161His)
c.79377A>C (p.Gln26459His)
c.79236A>C (p.Gln26412His)
c.105279A>C (p.Gln35093His)
c.100677A>C (p.Gln33559His)
c.100674A>C (p.Gln33558His)
c.97716A>C (p.Gln32572His)
c.79332A>C (p.Gln26444His)
c.100827A>C (p.Gln33609His)
c.100824A>C (p.Gln33608His)
c.100257A>C (p.Gln33419His)
c.97599A>C (p.Gln32533His)
c.97518A>C (p.Gln32506His)
c.79281A>C (p.Gln26427His)
c.69135A>C (p.Gln23045His)
2g.178530106T>ACA349405599TTN,TTN-AS1c.98681A>T (p.Gln32894Leu)
c.79766A>T (p.Gln26589Leu)
c.79565A>T (p.Gln26522Leu)
c.79190A>T (p.Gln26397Leu)
c.106385A>T (p.Gln35462Leu)
c.101462A>T (p.Gln33821Leu)
n.446+6470T>A
n.220-5626T>A
c.105482A>T (p.Gln35161Leu)
c.79376A>T (p.Gln26459Leu)
c.79235A>T (p.Gln26412Leu)
c.105278A>T (p.Gln35093Leu)
c.100676A>T (p.Gln33559Leu)
c.100673A>T (p.Gln33558Leu)
c.97715A>T (p.Gln32572Leu)
c.79331A>T (p.Gln26444Leu)
c.100826A>T (p.Gln33609Leu)
c.100823A>T (p.Gln33608Leu)
c.100256A>T (p.Gln33419Leu)
c.97598A>T (p.Gln32533Leu)
c.97517A>T (p.Gln32506Leu)
c.79280A>T (p.Gln26427Leu)
c.69134A>T (p.Gln23045Leu)
2g.178530106T>CCA60953073TTN,TTN-AS1c.98681A>G (p.Gln32894Arg)
c.79766A>G (p.Gln26589Arg)
c.79565A>G (p.Gln26522Arg)
c.79190A>G (p.Gln26397Arg)
c.106385A>G (p.Gln35462Arg)
c.101462A>G (p.Gln33821Arg)
n.446+6470T>C
n.220-5626T>C
c.105482A>G (p.Gln35161Arg)
c.79376A>G (p.Gln26459Arg)
c.79235A>G (p.Gln26412Arg)
c.105278A>G (p.Gln35093Arg)
c.100676A>G (p.Gln33559Arg)
c.100673A>G (p.Gln33558Arg)
c.97715A>G (p.Gln32572Arg)
c.79331A>G (p.Gln26444Arg)
c.100826A>G (p.Gln33609Arg)
c.100823A>G (p.Gln33608Arg)
c.100256A>G (p.Gln33419Arg)
c.97598A>G (p.Gln32533Arg)
c.97517A>G (p.Gln32506Arg)
c.79280A>G (p.Gln26427Arg)
c.69134A>G (p.Gln23045Arg)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.178530106T>GCA349405603TTN,TTN-AS1c.98681A>C (p.Gln32894Pro)
c.79766A>C (p.Gln26589Pro)
c.79565A>C (p.Gln26522Pro)
c.79190A>C (p.Gln26397Pro)
c.106385A>C (p.Gln35462Pro)
c.101462A>C (p.Gln33821Pro)
n.446+6470T>G
n.220-5626T>G
c.105482A>C (p.Gln35161Pro)
c.79376A>C (p.Gln26459Pro)
c.79235A>C (p.Gln26412Pro)
c.105278A>C (p.Gln35093Pro)
c.100676A>C (p.Gln33559Pro)
c.100673A>C (p.Gln33558Pro)
c.97715A>C (p.Gln32572Pro)
c.79331A>C (p.Gln26444Pro)
c.100826A>C (p.Gln33609Pro)
c.100823A>C (p.Gln33608Pro)
c.100256A>C (p.Gln33419Pro)
c.97598A>C (p.Gln32533Pro)
c.97517A>C (p.Gln32506Pro)
c.79280A>C (p.Gln26427Pro)
c.69134A>C (p.Gln23045Pro)
2g.178530106T=CA1310511497TTN,TTN-AS1c.98681A= (p.Gln32894=)
c.79766A= (p.Gln26589=)
c.79565A= (p.Gln26522=)
c.79190A= (p.Gln26397=)
c.106385A= (p.Gln35462=)
c.101462A= (p.Gln33821=)
n.446+6470T=
n.220-5626T=
c.105482A= (p.Gln35161=)
c.79376A= (p.Gln26459=)
c.79235A= (p.Gln26412=)
c.105278A= (p.Gln35093=)
c.100676A= (p.Gln33559=)
c.100673A= (p.Gln33558=)
c.97715A= (p.Gln32572=)
c.79331A= (p.Gln26444=)
c.100826A= (p.Gln33609=)
c.100823A= (p.Gln33608=)
c.100256A= (p.Gln33419=)
c.97598A= (p.Gln32533=)
c.97517A= (p.Gln32506=)
c.79280A= (p.Gln26427=)
c.69134A= (p.Gln23045=)
2g.178530107G>ACA349405606TTN,TTN-AS1c.98680C>T (p.Gln32894Ter)
c.79765C>T (p.Gln26589Ter)
c.79564C>T (p.Gln26522Ter)
c.79189C>T (p.Gln26397Ter)
c.106384C>T (p.Gln35462Ter)
c.101461C>T (p.Gln33821Ter)
n.446+6471G>A
n.220-5625G>A
c.105481C>T (p.Gln35161Ter)
c.79375C>T (p.Gln26459Ter)
c.79234C>T (p.Gln26412Ter)
c.105277C>T (p.Gln35093Ter)
c.100675C>T (p.Gln33559Ter)
c.100672C>T (p.Gln33558Ter)
c.97714C>T (p.Gln32572Ter)
c.79330C>T (p.Gln26444Ter)
c.100825C>T (p.Gln33609Ter)
c.100822C>T (p.Gln33608Ter)
c.100255C>T (p.Gln33419Ter)
c.97597C>T (p.Gln32533Ter)
c.97516C>T (p.Gln32506Ter)
c.79279C>T (p.Gln26427Ter)
c.69133C>T (p.Gln23045Ter)
2g.178530107G>CCA349405609TTN,TTN-AS1c.98680C>G (p.Gln32894Glu)
c.79765C>G (p.Gln26589Glu)
c.79564C>G (p.Gln26522Glu)
c.79189C>G (p.Gln26397Glu)
c.106384C>G (p.Gln35462Glu)
c.101461C>G (p.Gln33821Glu)
n.446+6471G>C
n.220-5625G>C
c.105481C>G (p.Gln35161Glu)
c.79375C>G (p.Gln26459Glu)
c.79234C>G (p.Gln26412Glu)
c.105277C>G (p.Gln35093Glu)
c.100675C>G (p.Gln33559Glu)
c.100672C>G (p.Gln33558Glu)
c.97714C>G (p.Gln32572Glu)
c.79330C>G (p.Gln26444Glu)
c.100825C>G (p.Gln33609Glu)
c.100822C>G (p.Gln33608Glu)
c.100255C>G (p.Gln33419Glu)
c.97597C>G (p.Gln32533Glu)
c.97516C>G (p.Gln32506Glu)
c.79279C>G (p.Gln26427Glu)
c.69133C>G (p.Gln23045Glu)
2g.178530107G>TCA349405612TTN,TTN-AS1c.98680C>A (p.Gln32894Lys)
c.79765C>A (p.Gln26589Lys)
c.79564C>A (p.Gln26522Lys)
c.79189C>A (p.Gln26397Lys)
c.106384C>A (p.Gln35462Lys)
c.101461C>A (p.Gln33821Lys)
n.446+6471G>T
n.220-5625G>T
c.105481C>A (p.Gln35161Lys)
c.79375C>A (p.Gln26459Lys)
c.79234C>A (p.Gln26412Lys)
c.105277C>A (p.Gln35093Lys)
c.100675C>A (p.Gln33559Lys)
c.100672C>A (p.Gln33558Lys)
c.97714C>A (p.Gln32572Lys)
c.79330C>A (p.Gln26444Lys)
c.100825C>A (p.Gln33609Lys)
c.100822C>A (p.Gln33608Lys)
c.100255C>A (p.Gln33419Lys)
c.97597C>A (p.Gln32533Lys)
c.97516C>A (p.Gln32506Lys)
c.79279C>A (p.Gln26427Lys)
c.69133C>A (p.Gln23045Lys)
2g.178530108T>ACA430094112TTN,TTN-AS1c.98679A>T (p.Thr32893=)
c.79764A>T (p.Thr26588=)
c.79563A>T (p.Thr26521=)
c.79188A>T (p.Thr26396=)
c.106383A>T (p.Thr35461=)
c.101460A>T (p.Thr33820=)
n.446+6472T>A
n.220-5624T>A
c.105480A>T (p.Thr35160=)
c.79374A>T (p.Thr26458=)
c.79233A>T (p.Thr26411=)
c.105276A>T (p.Thr35092=)
c.100674A>T (p.Thr33558=)
c.100671A>T (p.Thr33557=)
c.97713A>T (p.Thr32571=)
c.79329A>T (p.Thr26443=)
c.100824A>T (p.Thr33608=)
c.100821A>T (p.Thr33607=)
c.100254A>T (p.Thr33418=)
c.97596A>T (p.Thr32532=)
c.97515A>T (p.Thr32505=)
c.79278A>T (p.Thr26426=)
c.69132A>T (p.Thr23044=)
2g.178530108T>CCA430094114TTN,TTN-AS1c.98679A>G (p.Thr32893=)
c.79764A>G (p.Thr26588=)
c.79563A>G (p.Thr26521=)
c.79188A>G (p.Thr26396=)
c.106383A>G (p.Thr35461=)
c.101460A>G (p.Thr33820=)
n.446+6472T>C
n.220-5624T>C
c.105480A>G (p.Thr35160=)
c.79374A>G (p.Thr26458=)
c.79233A>G (p.Thr26411=)
c.105276A>G (p.Thr35092=)
c.100674A>G (p.Thr33558=)
c.100671A>G (p.Thr33557=)
c.97713A>G (p.Thr32571=)
c.79329A>G (p.Thr26443=)
c.100824A>G (p.Thr33608=)
c.100821A>G (p.Thr33607=)
c.100254A>G (p.Thr33418=)
c.97596A>G (p.Thr32532=)
c.97515A>G (p.Thr32505=)
c.79278A>G (p.Thr26426=)
c.69132A>G (p.Thr23044=)
2g.178530108T>GCA430094116TTN,TTN-AS1c.98679A>C (p.Thr32893=)
c.79764A>C (p.Thr26588=)
c.79563A>C (p.Thr26521=)
c.79188A>C (p.Thr26396=)
c.106383A>C (p.Thr35461=)
c.101460A>C (p.Thr33820=)
n.446+6472T>G
n.220-5624T>G
c.105480A>C (p.Thr35160=)
c.79374A>C (p.Thr26458=)
c.79233A>C (p.Thr26411=)
c.105276A>C (p.Thr35092=)
c.100674A>C (p.Thr33558=)
c.100671A>C (p.Thr33557=)
c.97713A>C (p.Thr32571=)
c.79329A>C (p.Thr26443=)
c.100824A>C (p.Thr33608=)
c.100821A>C (p.Thr33607=)
c.100254A>C (p.Thr33418=)
c.97596A>C (p.Thr32532=)
c.97515A>C (p.Thr32505=)
c.79278A>C (p.Thr26426=)
c.69132A>C (p.Thr23044=)
 gnomAD v4
2g.178530109G>ACA1985113TTN,TTN-AS1c.98678C>T (p.Thr32893Ile)
c.79763C>T (p.Thr26588Ile)
c.79562C>T (p.Thr26521Ile)
c.79187C>T (p.Thr26396Ile)
c.106382C>T (p.Thr35461Ile)
c.101459C>T (p.Thr33820Ile)
n.446+6473G>A
n.220-5623G>A
c.105479C>T (p.Thr35160Ile)
c.79373C>T (p.Thr26458Ile)
c.79232C>T (p.Thr26411Ile)
c.105275C>T (p.Thr35092Ile)
c.100673C>T (p.Thr33558Ile)
c.100670C>T (p.Thr33557Ile)
c.97712C>T (p.Thr32571Ile)
c.79328C>T (p.Thr26443Ile)
c.100823C>T (p.Thr33608Ile)
c.100820C>T (p.Thr33607Ile)
c.100253C>T (p.Thr33418Ile)
c.97595C>T (p.Thr32532Ile)
c.97514C>T (p.Thr32505Ile)
c.79277C>T (p.Thr26426Ile)
c.69131C>T (p.Thr23044Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178530109G>CCA349405613TTN,TTN-AS1c.98678C>G (p.Thr32893Arg)
c.79763C>G (p.Thr26588Arg)
c.79562C>G (p.Thr26521Arg)
c.79187C>G (p.Thr26396Arg)
c.106382C>G (p.Thr35461Arg)
c.101459C>G (p.Thr33820Arg)
n.446+6473G>C
n.220-5623G>C
c.105479C>G (p.Thr35160Arg)
c.79373C>G (p.Thr26458Arg)
c.79232C>G (p.Thr26411Arg)
c.105275C>G (p.Thr35092Arg)
c.100673C>G (p.Thr33558Arg)
c.100670C>G (p.Thr33557Arg)
c.97712C>G (p.Thr32571Arg)
c.79328C>G (p.Thr26443Arg)
c.100823C>G (p.Thr33608Arg)
c.100820C>G (p.Thr33607Arg)
c.100253C>G (p.Thr33418Arg)
c.97595C>G (p.Thr32532Arg)
c.97514C>G (p.Thr32505Arg)
c.79277C>G (p.Thr26426Arg)
c.69131C>G (p.Thr23044Arg)
2g.178530109G=CA1310511500TTN,TTN-AS1c.98678C= (p.Thr32893=)
c.79763C= (p.Thr26588=)
c.79562C= (p.Thr26521=)
c.79187C= (p.Thr26396=)
c.106382C= (p.Thr35461=)
c.101459C= (p.Thr33820=)
n.446+6473G=
n.220-5623G=
c.105479C= (p.Thr35160=)
c.79373C= (p.Thr26458=)
c.79232C= (p.Thr26411=)
c.105275C= (p.Thr35092=)
c.100673C= (p.Thr33558=)
c.100670C= (p.Thr33557=)
c.97712C= (p.Thr32571=)
c.79328C= (p.Thr26443=)
c.100823C= (p.Thr33608=)
c.100820C= (p.Thr33607=)
c.100253C= (p.Thr33418=)
c.97595C= (p.Thr32532=)
c.97514C= (p.Thr32505=)
c.79277C= (p.Thr26426=)
c.69131C= (p.Thr23044=)
2g.178530109G>TCA349405614TTN,TTN-AS1c.98678C>A (p.Thr32893Lys)
c.79763C>A (p.Thr26588Lys)
c.79562C>A (p.Thr26521Lys)
c.79187C>A (p.Thr26396Lys)
c.106382C>A (p.Thr35461Lys)
c.101459C>A (p.Thr33820Lys)
n.446+6473G>T
n.220-5623G>T
c.105479C>A (p.Thr35160Lys)
c.79373C>A (p.Thr26458Lys)
c.79232C>A (p.Thr26411Lys)
c.105275C>A (p.Thr35092Lys)
c.100673C>A (p.Thr33558Lys)
c.100670C>A (p.Thr33557Lys)
c.97712C>A (p.Thr32571Lys)
c.79328C>A (p.Thr26443Lys)
c.100823C>A (p.Thr33608Lys)
c.100820C>A (p.Thr33607Lys)
c.100253C>A (p.Thr33418Lys)
c.97595C>A (p.Thr32532Lys)
c.97514C>A (p.Thr32505Lys)
c.79277C>A (p.Thr26426Lys)
c.69131C>A (p.Thr23044Lys)
2g.178530110T>ACA349405615TTN,TTN-AS1c.98677A>T (p.Thr32893Ser)
c.79762A>T (p.Thr26588Ser)
c.79561A>T (p.Thr26521Ser)
c.79186A>T (p.Thr26396Ser)
c.106381A>T (p.Thr35461Ser)
c.101458A>T (p.Thr33820Ser)
n.446+6474T>A
n.220-5622T>A
c.105478A>T (p.Thr35160Ser)
c.79372A>T (p.Thr26458Ser)
c.79231A>T (p.Thr26411Ser)
c.105274A>T (p.Thr35092Ser)
c.100672A>T (p.Thr33558Ser)
c.100669A>T (p.Thr33557Ser)
c.97711A>T (p.Thr32571Ser)
c.79327A>T (p.Thr26443Ser)
c.100822A>T (p.Thr33608Ser)
c.100819A>T (p.Thr33607Ser)
c.100252A>T (p.Thr33418Ser)
c.97594A>T (p.Thr32532Ser)
c.97513A>T (p.Thr32505Ser)
c.79276A>T (p.Thr26426Ser)
c.69130A>T (p.Thr23044Ser)
2g.178530110T>CCA349405616TTN,TTN-AS1c.98677A>G (p.Thr32893Ala)
c.79762A>G (p.Thr26588Ala)
c.79561A>G (p.Thr26521Ala)
c.79186A>G (p.Thr26396Ala)
c.106381A>G (p.Thr35461Ala)
c.101458A>G (p.Thr33820Ala)
n.446+6474T>C
n.220-5622T>C
c.105478A>G (p.Thr35160Ala)
c.79372A>G (p.Thr26458Ala)
c.79231A>G (p.Thr26411Ala)
c.105274A>G (p.Thr35092Ala)
c.100672A>G (p.Thr33558Ala)
c.100669A>G (p.Thr33557Ala)
c.97711A>G (p.Thr32571Ala)
c.79327A>G (p.Thr26443Ala)
c.100822A>G (p.Thr33608Ala)
c.100819A>G (p.Thr33607Ala)
c.100252A>G (p.Thr33418Ala)
c.97594A>G (p.Thr32532Ala)
c.97513A>G (p.Thr32505Ala)
c.79276A>G (p.Thr26426Ala)
c.69130A>G (p.Thr23044Ala)
 dbSNP gnomAD v2 gnomAD v4
2g.178530110T>GCA349405617TTN,TTN-AS1c.98677A>C (p.Thr32893Pro)
c.79762A>C (p.Thr26588Pro)
c.79561A>C (p.Thr26521Pro)
c.79186A>C (p.Thr26396Pro)
c.106381A>C (p.Thr35461Pro)
c.101458A>C (p.Thr33820Pro)
n.446+6474T>G
n.220-5622T>G
c.105478A>C (p.Thr35160Pro)
c.79372A>C (p.Thr26458Pro)
c.79231A>C (p.Thr26411Pro)
c.105274A>C (p.Thr35092Pro)
c.100672A>C (p.Thr33558Pro)
c.100669A>C (p.Thr33557Pro)
c.97711A>C (p.Thr32571Pro)
c.79327A>C (p.Thr26443Pro)
c.100822A>C (p.Thr33608Pro)
c.100819A>C (p.Thr33607Pro)
c.100252A>C (p.Thr33418Pro)
c.97594A>C (p.Thr32532Pro)
c.97513A>C (p.Thr32505Pro)
c.79276A>C (p.Thr26426Pro)
c.69130A>C (p.Thr23044Pro)
2g.178530110T=CA1310511505TTN,TTN-AS1c.98677A= (p.Thr32893=)
c.79762A= (p.Thr26588=)
c.79561A= (p.Thr26521=)
c.79186A= (p.Thr26396=)
c.106381A= (p.Thr35461=)
c.101458A= (p.Thr33820=)
n.446+6474T=
n.220-5622T=
c.105478A= (p.Thr35160=)
c.79372A= (p.Thr26458=)
c.79231A= (p.Thr26411=)
c.105274A= (p.Thr35092=)
c.100672A= (p.Thr33558=)
c.100669A= (p.Thr33557=)
c.97711A= (p.Thr32571=)
c.79327A= (p.Thr26443=)
c.100822A= (p.Thr33608=)
c.100819A= (p.Thr33607=)
c.100252A= (p.Thr33418=)
c.97594A= (p.Thr32532=)
c.97513A= (p.Thr32505=)
c.79276A= (p.Thr26426=)
c.69130A= (p.Thr23044=)
2g.178530111A>CCA349405619TTN,TTN-AS1c.98676T>G (p.Ile32892Met)
c.79761T>G (p.Ile26587Met)
c.79560T>G (p.Ile26520Met)
c.79185T>G (p.Ile26395Met)
c.106380T>G (p.Ile35460Met)
c.101457T>G (p.Ile33819Met)
n.446+6475A>C
n.220-5621A>C
c.105477T>G (p.Ile35159Met)
c.79371T>G (p.Ile26457Met)
c.79230T>G (p.Ile26410Met)
c.105273T>G (p.Ile35091Met)
c.100671T>G (p.Ile33557Met)
c.100668T>G (p.Ile33556Met)
c.97710T>G (p.Ile32570Met)
c.79326T>G (p.Ile26442Met)
c.100821T>G (p.Ile33607Met)
c.100818T>G (p.Ile33606Met)
c.100251T>G (p.Ile33417Met)
c.97593T>G (p.Ile32531Met)
c.97512T>G (p.Ile32504Met)
c.79275T>G (p.Ile26425Met)
c.69129T>G (p.Ile23043Met)
2g.178530111A>GCA430094131TTN,TTN-AS1c.98676T>C (p.Ile32892=)
c.79761T>C (p.Ile26587=)
c.79560T>C (p.Ile26520=)
c.79185T>C (p.Ile26395=)
c.106380T>C (p.Ile35460=)
c.101457T>C (p.Ile33819=)
n.446+6475A>G
n.220-5621A>G
c.105477T>C (p.Ile35159=)
c.79371T>C (p.Ile26457=)
c.79230T>C (p.Ile26410=)
c.105273T>C (p.Ile35091=)
c.100671T>C (p.Ile33557=)
c.100668T>C (p.Ile33556=)
c.97710T>C (p.Ile32570=)
c.79326T>C (p.Ile26442=)
c.100821T>C (p.Ile33607=)
c.100818T>C (p.Ile33606=)
c.100251T>C (p.Ile33417=)
c.97593T>C (p.Ile32531=)
c.97512T>C (p.Ile32504=)
c.79275T>C (p.Ile26425=)
c.69129T>C (p.Ile23043=)
2g.178530111A>TCA430094129TTN,TTN-AS1c.98676T>A (p.Ile32892=)
c.79761T>A (p.Ile26587=)
c.79560T>A (p.Ile26520=)
c.79185T>A (p.Ile26395=)
c.106380T>A (p.Ile35460=)
c.101457T>A (p.Ile33819=)
n.446+6475A>T
n.220-5621A>T
c.105477T>A (p.Ile35159=)
c.79371T>A (p.Ile26457=)
c.79230T>A (p.Ile26410=)
c.105273T>A (p.Ile35091=)
c.100671T>A (p.Ile33557=)
c.100668T>A (p.Ile33556=)
c.97710T>A (p.Ile32570=)
c.79326T>A (p.Ile26442=)
c.100821T>A (p.Ile33607=)
c.100818T>A (p.Ile33606=)
c.100251T>A (p.Ile33417=)
c.97593T>A (p.Ile32531=)
c.97512T>A (p.Ile32504=)
c.79275T>A (p.Ile26425=)
c.69129T>A (p.Ile23043=)
2g.178530112A=CA1310511512TTN,TTN-AS1c.98675T= (p.Ile32892=)
c.79760T= (p.Ile26587=)
c.79559T= (p.Ile26520=)
c.79184T= (p.Ile26395=)
c.106379T= (p.Ile35460=)
c.101456T= (p.Ile33819=)
n.446+6476A=
n.220-5620A=
c.105476T= (p.Ile35159=)
c.79370T= (p.Ile26457=)
c.79229T= (p.Ile26410=)
c.105272T= (p.Ile35091=)
c.100670T= (p.Ile33557=)
c.100667T= (p.Ile33556=)
c.97709T= (p.Ile32570=)
c.79325T= (p.Ile26442=)
c.100820T= (p.Ile33607=)
c.100817T= (p.Ile33606=)
c.100250T= (p.Ile33417=)
c.97592T= (p.Ile32531=)
c.97511T= (p.Ile32504=)
c.79274T= (p.Ile26425=)
c.69128T= (p.Ile23043=)
2g.178530112A>CCA349405625TTN,TTN-AS1c.98675T>G (p.Ile32892Ser)
c.79760T>G (p.Ile26587Ser)
c.79559T>G (p.Ile26520Ser)
c.79184T>G (p.Ile26395Ser)
c.106379T>G (p.Ile35460Ser)
c.101456T>G (p.Ile33819Ser)
n.446+6476A>C
n.220-5620A>C
c.105476T>G (p.Ile35159Ser)
c.79370T>G (p.Ile26457Ser)
c.79229T>G (p.Ile26410Ser)
c.105272T>G (p.Ile35091Ser)
c.100670T>G (p.Ile33557Ser)
c.100667T>G (p.Ile33556Ser)
c.97709T>G (p.Ile32570Ser)
c.79325T>G (p.Ile26442Ser)
c.100820T>G (p.Ile33607Ser)
c.100817T>G (p.Ile33606Ser)
c.100250T>G (p.Ile33417Ser)
c.97592T>G (p.Ile32531Ser)
c.97511T>G (p.Ile32504Ser)
c.79274T>G (p.Ile26425Ser)
c.69128T>G (p.Ile23043Ser)
2g.178530112A>GCA349405624TTN,TTN-AS1c.98675T>C (p.Ile32892Thr)
c.79760T>C (p.Ile26587Thr)
c.79559T>C (p.Ile26520Thr)
c.79184T>C (p.Ile26395Thr)
c.106379T>C (p.Ile35460Thr)
c.101456T>C (p.Ile33819Thr)
n.446+6476A>G
n.220-5620A>G
c.105476T>C (p.Ile35159Thr)
c.79370T>C (p.Ile26457Thr)
c.79229T>C (p.Ile26410Thr)
c.105272T>C (p.Ile35091Thr)
c.100670T>C (p.Ile33557Thr)
c.100667T>C (p.Ile33556Thr)
c.97709T>C (p.Ile32570Thr)
c.79325T>C (p.Ile26442Thr)
c.100820T>C (p.Ile33607Thr)
c.100817T>C (p.Ile33606Thr)
c.100250T>C (p.Ile33417Thr)
c.97592T>C (p.Ile32531Thr)
c.97511T>C (p.Ile32504Thr)
c.79274T>C (p.Ile26425Thr)
c.69128T>C (p.Ile23043Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
2g.178530112A>TCA349405622TTN,TTN-AS1c.98675T>A (p.Ile32892Asn)
c.79760T>A (p.Ile26587Asn)
c.79559T>A (p.Ile26520Asn)
c.79184T>A (p.Ile26395Asn)
c.106379T>A (p.Ile35460Asn)
c.101456T>A (p.Ile33819Asn)
n.446+6476A>T
n.220-5620A>T
c.105476T>A (p.Ile35159Asn)
c.79370T>A (p.Ile26457Asn)
c.79229T>A (p.Ile26410Asn)
c.105272T>A (p.Ile35091Asn)
c.100670T>A (p.Ile33557Asn)
c.100667T>A (p.Ile33556Asn)
c.97709T>A (p.Ile32570Asn)
c.79325T>A (p.Ile26442Asn)
c.100820T>A (p.Ile33607Asn)
c.100817T>A (p.Ile33606Asn)
c.100250T>A (p.Ile33417Asn)
c.97592T>A (p.Ile32531Asn)
c.97511T>A (p.Ile32504Asn)
c.79274T>A (p.Ile26425Asn)
c.69128T>A (p.Ile23043Asn)
2g.178530113T>ACA349405627TTN,TTN-AS1c.98674A>T (p.Ile32892Phe)
c.79759A>T (p.Ile26587Phe)
c.79558A>T (p.Ile26520Phe)
c.79183A>T (p.Ile26395Phe)
c.106378A>T (p.Ile35460Phe)
c.101455A>T (p.Ile33819Phe)
n.446+6477T>A
n.220-5619T>A
c.105475A>T (p.Ile35159Phe)
c.79369A>T (p.Ile26457Phe)
c.79228A>T (p.Ile26410Phe)
c.105271A>T (p.Ile35091Phe)
c.100669A>T (p.Ile33557Phe)
c.100666A>T (p.Ile33556Phe)
c.97708A>T (p.Ile32570Phe)
c.79324A>T (p.Ile26442Phe)
c.100819A>T (p.Ile33607Phe)
c.100816A>T (p.Ile33606Phe)
c.100249A>T (p.Ile33417Phe)
c.97591A>T (p.Ile32531Phe)
c.97510A>T (p.Ile32504Phe)
c.79273A>T (p.Ile26425Phe)
c.69127A>T (p.Ile23043Phe)
2g.178530113T>CCA349405629TTN,TTN-AS1c.98674A>G (p.Ile32892Val)
c.79759A>G (p.Ile26587Val)
c.79558A>G (p.Ile26520Val)
c.79183A>G (p.Ile26395Val)
c.106378A>G (p.Ile35460Val)
c.101455A>G (p.Ile33819Val)
n.446+6477T>C
n.220-5619T>C
c.105475A>G (p.Ile35159Val)
c.79369A>G (p.Ile26457Val)
c.79228A>G (p.Ile26410Val)
c.105271A>G (p.Ile35091Val)
c.100669A>G (p.Ile33557Val)
c.100666A>G (p.Ile33556Val)
c.97708A>G (p.Ile32570Val)
c.79324A>G (p.Ile26442Val)
c.100819A>G (p.Ile33607Val)
c.100816A>G (p.Ile33606Val)
c.100249A>G (p.Ile33417Val)
c.97591A>G (p.Ile32531Val)
c.97510A>G (p.Ile32504Val)
c.79273A>G (p.Ile26425Val)
c.69127A>G (p.Ile23043Val)
 ClinVar dbSNP gnomAD v4
2g.178530113T>GCA349405632TTN,TTN-AS1c.98674A>C (p.Ile32892Leu)
c.79759A>C (p.Ile26587Leu)
c.79558A>C (p.Ile26520Leu)
c.79183A>C (p.Ile26395Leu)
c.106378A>C (p.Ile35460Leu)
c.101455A>C (p.Ile33819Leu)
n.446+6477T>G
n.220-5619T>G
c.105475A>C (p.Ile35159Leu)
c.79369A>C (p.Ile26457Leu)
c.79228A>C (p.Ile26410Leu)
c.105271A>C (p.Ile35091Leu)
c.100669A>C (p.Ile33557Leu)
c.100666A>C (p.Ile33556Leu)
c.97708A>C (p.Ile32570Leu)
c.79324A>C (p.Ile26442Leu)
c.100819A>C (p.Ile33607Leu)
c.100816A>C (p.Ile33606Leu)
c.100249A>C (p.Ile33417Leu)
c.97591A>C (p.Ile32531Leu)
c.97510A>C (p.Ile32504Leu)
c.79273A>C (p.Ile26425Leu)
c.69127A>C (p.Ile23043Leu)
2g.178530113T=CA1310511517TTN,TTN-AS1c.98674A= (p.Ile32892=)
c.79759A= (p.Ile26587=)
c.79558A= (p.Ile26520=)
c.79183A= (p.Ile26395=)
c.106378A= (p.Ile35460=)
c.101455A= (p.Ile33819=)
n.446+6477T=
n.220-5619T=
c.105475A= (p.Ile35159=)
c.79369A= (p.Ile26457=)
c.79228A= (p.Ile26410=)
c.105271A= (p.Ile35091=)
c.100669A= (p.Ile33557=)
c.100666A= (p.Ile33556=)
c.97708A= (p.Ile32570=)
c.79324A= (p.Ile26442=)
c.100819A= (p.Ile33607=)
c.100816A= (p.Ile33606=)
c.100249A= (p.Ile33417=)
c.97591A= (p.Ile32531=)
c.97510A= (p.Ile32504=)
c.79273A= (p.Ile26425=)
c.69127A= (p.Ile23043=)
2g.178530114G>ACA1985114TTN,TTN-AS1c.98673C>T (p.Ala32891=)
c.79758C>T (p.Ala26586=)
c.79557C>T (p.Ala26519=)
c.79182C>T (p.Ala26394=)
c.106377C>T (p.Ala35459=)
c.101454C>T (p.Ala33818=)
n.446+6478G>A
n.220-5618G>A
c.105474C>T (p.Ala35158=)
c.79368C>T (p.Ala26456=)
c.79227C>T (p.Ala26409=)
c.105270C>T (p.Ala35090=)
c.100668C>T (p.Ala33556=)
c.100665C>T (p.Ala33555=)
c.97707C>T (p.Ala32569=)
c.79323C>T (p.Ala26441=)
c.100818C>T (p.Ala33606=)
c.100815C>T (p.Ala33605=)
c.100248C>T (p.Ala33416=)
c.97590C>T (p.Ala32530=)
c.97509C>T (p.Ala32503=)
c.79272C>T (p.Ala26424=)
c.69126C>T (p.Ala23042=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178530114G>CCA430094143TTN,TTN-AS1c.98673C>G (p.Ala32891=)
c.79758C>G (p.Ala26586=)
c.79557C>G (p.Ala26519=)
c.79182C>G (p.Ala26394=)
c.106377C>G (p.Ala35459=)
c.101454C>G (p.Ala33818=)
n.446+6478G>C
n.220-5618G>C
c.105474C>G (p.Ala35158=)
c.79368C>G (p.Ala26456=)
c.79227C>G (p.Ala26409=)
c.105270C>G (p.Ala35090=)
c.100668C>G (p.Ala33556=)
c.100665C>G (p.Ala33555=)
c.97707C>G (p.Ala32569=)
c.79323C>G (p.Ala26441=)
c.100818C>G (p.Ala33606=)
c.100815C>G (p.Ala33605=)
c.100248C>G (p.Ala33416=)
c.97590C>G (p.Ala32530=)
c.97509C>G (p.Ala32503=)
c.79272C>G (p.Ala26424=)
c.69126C>G (p.Ala23042=)
2g.178530114G=CA1310511520TTN,TTN-AS1c.98673C= (p.Ala32891=)
c.79758C= (p.Ala26586=)
c.79557C= (p.Ala26519=)
c.79182C= (p.Ala26394=)
c.106377C= (p.Ala35459=)
c.101454C= (p.Ala33818=)
n.446+6478G=
n.220-5618G=
c.105474C= (p.Ala35158=)
c.79368C= (p.Ala26456=)
c.79227C= (p.Ala26409=)
c.105270C= (p.Ala35090=)
c.100668C= (p.Ala33556=)
c.100665C= (p.Ala33555=)
c.97707C= (p.Ala32569=)
c.79323C= (p.Ala26441=)
c.100818C= (p.Ala33606=)
c.100815C= (p.Ala33605=)
c.100248C= (p.Ala33416=)
c.97590C= (p.Ala32530=)
c.97509C= (p.Ala32503=)
c.79272C= (p.Ala26424=)
c.69126C= (p.Ala23042=)
2g.178530114G>TCA430094145TTN,TTN-AS1c.98673C>A (p.Ala32891=)
c.79758C>A (p.Ala26586=)
c.79557C>A (p.Ala26519=)
c.79182C>A (p.Ala26394=)
c.106377C>A (p.Ala35459=)
c.101454C>A (p.Ala33818=)
n.446+6478G>T
n.220-5618G>T
c.105474C>A (p.Ala35158=)
c.79368C>A (p.Ala26456=)
c.79227C>A (p.Ala26409=)
c.105270C>A (p.Ala35090=)
c.100668C>A (p.Ala33556=)
c.100665C>A (p.Ala33555=)
c.97707C>A (p.Ala32569=)
c.79323C>A (p.Ala26441=)
c.100818C>A (p.Ala33606=)
c.100815C>A (p.Ala33605=)
c.100248C>A (p.Ala33416=)
c.97590C>A (p.Ala32530=)
c.97509C>A (p.Ala32503=)
c.79272C>A (p.Ala26424=)
c.69126C>A (p.Ala23042=)
2g.178530115G>ACA60953079TTN,TTN-AS1c.98672C>T (p.Ala32891Val)
c.79757C>T (p.Ala26586Val)
c.79556C>T (p.Ala26519Val)
c.79181C>T (p.Ala26394Val)
c.106376C>T (p.Ala35459Val)
c.101453C>T (p.Ala33818Val)
n.446+6479G>A
n.220-5617G>A
c.105473C>T (p.Ala35158Val)
c.79367C>T (p.Ala26456Val)
c.79226C>T (p.Ala26409Val)
c.105269C>T (p.Ala35090Val)
c.100667C>T (p.Ala33556Val)
c.100664C>T (p.Ala33555Val)
c.97706C>T (p.Ala32569Val)
c.79322C>T (p.Ala26441Val)
c.100817C>T (p.Ala33606Val)
c.100814C>T (p.Ala33605Val)
c.100247C>T (p.Ala33416Val)
c.97589C>T (p.Ala32530Val)
c.97508C>T (p.Ala32503Val)
c.79271C>T (p.Ala26424Val)
c.69125C>T (p.Ala23042Val)
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
2g.178530115G>CCA349405637TTN,TTN-AS1c.98672C>G (p.Ala32891Gly)
c.79757C>G (p.Ala26586Gly)
c.79556C>G (p.Ala26519Gly)
c.79181C>G (p.Ala26394Gly)
c.106376C>G (p.Ala35459Gly)
c.101453C>G (p.Ala33818Gly)
n.446+6479G>C
n.220-5617G>C
c.105473C>G (p.Ala35158Gly)
c.79367C>G (p.Ala26456Gly)
c.79226C>G (p.Ala26409Gly)
c.105269C>G (p.Ala35090Gly)
c.100667C>G (p.Ala33556Gly)
c.100664C>G (p.Ala33555Gly)
c.97706C>G (p.Ala32569Gly)
c.79322C>G (p.Ala26441Gly)
c.100817C>G (p.Ala33606Gly)
c.100814C>G (p.Ala33605Gly)
c.100247C>G (p.Ala33416Gly)
c.97589C>G (p.Ala32530Gly)
c.97508C>G (p.Ala32503Gly)
c.79271C>G (p.Ala26424Gly)
c.69125C>G (p.Ala23042Gly)
2g.178530115G=CA1310511528TTN,TTN-AS1c.98672C= (p.Ala32891=)
c.79757C= (p.Ala26586=)
c.79556C= (p.Ala26519=)
c.79181C= (p.Ala26394=)
c.106376C= (p.Ala35459=)
c.101453C= (p.Ala33818=)
n.446+6479G=
n.220-5617G=
c.105473C= (p.Ala35158=)
c.79367C= (p.Ala26456=)
c.79226C= (p.Ala26409=)
c.105269C= (p.Ala35090=)
c.100667C= (p.Ala33556=)
c.100664C= (p.Ala33555=)
c.97706C= (p.Ala32569=)
c.79322C= (p.Ala26441=)
c.100817C= (p.Ala33606=)
c.100814C= (p.Ala33605=)
c.100247C= (p.Ala33416=)
c.97589C= (p.Ala32530=)
c.97508C= (p.Ala32503=)
c.79271C= (p.Ala26424=)
c.69125C= (p.Ala23042=)
2g.178530115G>TCA349405639TTN,TTN-AS1c.98672C>A (p.Ala32891Asp)
c.79757C>A (p.Ala26586Asp)
c.79556C>A (p.Ala26519Asp)
c.79181C>A (p.Ala26394Asp)
c.106376C>A (p.Ala35459Asp)
c.101453C>A (p.Ala33818Asp)
n.446+6479G>T
n.220-5617G>T
c.105473C>A (p.Ala35158Asp)
c.79367C>A (p.Ala26456Asp)
c.79226C>A (p.Ala26409Asp)
c.105269C>A (p.Ala35090Asp)
c.100667C>A (p.Ala33556Asp)
c.100664C>A (p.Ala33555Asp)
c.97706C>A (p.Ala32569Asp)
c.79322C>A (p.Ala26441Asp)
c.100817C>A (p.Ala33606Asp)
c.100814C>A (p.Ala33605Asp)
c.100247C>A (p.Ala33416Asp)
c.97589C>A (p.Ala32530Asp)
c.97508C>A (p.Ala32503Asp)
c.79271C>A (p.Ala26424Asp)
c.69125C>A (p.Ala23042Asp)
2g.178530116C>ACA349405642TTN,TTN-AS1c.98671G>T (p.Ala32891Ser)
c.79756G>T (p.Ala26586Ser)
c.79555G>T (p.Ala26519Ser)
c.79180G>T (p.Ala26394Ser)
c.106375G>T (p.Ala35459Ser)
c.101452G>T (p.Ala33818Ser)
n.446+6480C>A
n.220-5616C>A
c.105472G>T (p.Ala35158Ser)
c.79366G>T (p.Ala26456Ser)
c.79225G>T (p.Ala26409Ser)
c.105268G>T (p.Ala35090Ser)
c.100666G>T (p.Ala33556Ser)
c.100663G>T (p.Ala33555Ser)
c.97705G>T (p.Ala32569Ser)
c.79321G>T (p.Ala26441Ser)
c.100816G>T (p.Ala33606Ser)
c.100813G>T (p.Ala33605Ser)
c.100246G>T (p.Ala33416Ser)
c.97588G>T (p.Ala32530Ser)
c.97507G>T (p.Ala32503Ser)
c.79270G>T (p.Ala26424Ser)
c.69124G>T (p.Ala23042Ser)
2g.178530116C>GCA349405644TTN,TTN-AS1c.98671G>C (p.Ala32891Pro)
c.79756G>C (p.Ala26586Pro)
c.79555G>C (p.Ala26519Pro)
c.79180G>C (p.Ala26394Pro)
c.106375G>C (p.Ala35459Pro)
c.101452G>C (p.Ala33818Pro)
n.446+6480C>G
n.220-5616C>G
c.105472G>C (p.Ala35158Pro)
c.79366G>C (p.Ala26456Pro)
c.79225G>C (p.Ala26409Pro)
c.105268G>C (p.Ala35090Pro)
c.100666G>C (p.Ala33556Pro)
c.100663G>C (p.Ala33555Pro)
c.97705G>C (p.Ala32569Pro)
c.79321G>C (p.Ala26441Pro)
c.100816G>C (p.Ala33606Pro)
c.100813G>C (p.Ala33605Pro)
c.100246G>C (p.Ala33416Pro)
c.97588G>C (p.Ala32530Pro)
c.97507G>C (p.Ala32503Pro)
c.79270G>C (p.Ala26424Pro)
c.69124G>C (p.Ala23042Pro)
2g.178530116C>TCA349405646TTN,TTN-AS1c.98671G>A (p.Ala32891Thr)
c.79756G>A (p.Ala26586Thr)
c.79555G>A (p.Ala26519Thr)
c.79180G>A (p.Ala26394Thr)
c.106375G>A (p.Ala35459Thr)
c.101452G>A (p.Ala33818Thr)
n.446+6480C>T
n.220-5616C>T
c.105472G>A (p.Ala35158Thr)
c.79366G>A (p.Ala26456Thr)
c.79225G>A (p.Ala26409Thr)
c.105268G>A (p.Ala35090Thr)
c.100666G>A (p.Ala33556Thr)
c.100663G>A (p.Ala33555Thr)
c.97705G>A (p.Ala32569Thr)
c.79321G>A (p.Ala26441Thr)
c.100816G>A (p.Ala33606Thr)
c.100813G>A (p.Ala33605Thr)
c.100246G>A (p.Ala33416Thr)
c.97588G>A (p.Ala32530Thr)
c.97507G>A (p.Ala32503Thr)
c.79270G>A (p.Ala26424Thr)
c.69124G>A (p.Ala23042Thr)
2g.178530119_178530242delCA2753330714TTN,TTN-AS1c.98670+2_98671del
c.79755+2_79756del
c.79554+2_79555del
c.79179+2_79180del
c.106374+2_106375del
c.101451+2_101452del
n.446+6483_446+6606del
n.220-5613_220-5490del
c.105471+2_105472del
c.79365+2_79366del
c.79224+2_79225del
c.105267+2_105268del
c.100665+2_100666del
c.100662+2_100663del
c.97704+2_97705del
c.79320+2_79321del
c.100815+2_100816del
c.100812+2_100813del
c.100245+2_100246del
c.97587+2_97588del
c.97506+2_97507del
c.79269+2_79270del
c.69123+2_69124del
2g.178530117C>ACA349405650TTN,TTN-AS1c.98671-1G>T (n.98671-1G>T)
c.79756-1G>T (n.79756-1G>T)
c.79555-1G>T (n.79555-1G>T)
c.79180-1G>T (n.79180-1G>T)
c.106375-1G>T (n.106375-1G>T)
c.101452-1G>T (n.101452-1G>T)
n.446+6481C>A
n.220-5615C>A
c.105472-1G>T (n.105472-1G>T)
c.79366-1G>T (n.79366-1G>T)
c.79225-1G>T (n.79225-1G>T)
c.105268-1G>T (n.105268-1G>T)
c.100666-1G>T (n.100666-1G>T)
c.100663-1G>T (n.100663-1G>T)
c.97705-1G>T (n.97705-1G>T)
c.79321-1G>T (n.79321-1G>T)
c.100816-1G>T (n.100816-1G>T)
c.100813-1G>T (n.100813-1G>T)
c.100246-1G>T (n.100246-1G>T)
c.97588-1G>T (n.97588-1G>T)
c.97507-1G>T (n.97507-1G>T)
c.79270-1G>T (n.79270-1G>T)
c.69124-1G>T (n.69124-1G>T)
2g.178530117C>GCA349405651TTN,TTN-AS1c.98671-1G>C (n.98671-1G>C)
c.79756-1G>C (n.79756-1G>C)
c.79555-1G>C (n.79555-1G>C)
c.79180-1G>C (n.79180-1G>C)
c.106375-1G>C (n.106375-1G>C)
c.101452-1G>C (n.101452-1G>C)
n.446+6481C>G
n.220-5615C>G
c.105472-1G>C (n.105472-1G>C)
c.79366-1G>C (n.79366-1G>C)
c.79225-1G>C (n.79225-1G>C)
c.105268-1G>C (n.105268-1G>C)
c.100666-1G>C (n.100666-1G>C)
c.100663-1G>C (n.100663-1G>C)
c.97705-1G>C (n.97705-1G>C)
c.79321-1G>C (n.79321-1G>C)
c.100816-1G>C (n.100816-1G>C)
c.100813-1G>C (n.100813-1G>C)
c.100246-1G>C (n.100246-1G>C)
c.97588-1G>C (n.97588-1G>C)
c.97507-1G>C (n.97507-1G>C)
c.79270-1G>C (n.79270-1G>C)
c.69124-1G>C (n.69124-1G>C)
2g.178530117C>TCA349405654TTN,TTN-AS1c.98671-1G>A (n.98671-1G>A)
c.79756-1G>A (n.79756-1G>A)
c.79555-1G>A (n.79555-1G>A)
c.79180-1G>A (n.79180-1G>A)
c.106375-1G>A (n.106375-1G>A)
c.101452-1G>A (n.101452-1G>A)
n.446+6481C>T
n.220-5615C>T
c.105472-1G>A (n.105472-1G>A)
c.79366-1G>A (n.79366-1G>A)
c.79225-1G>A (n.79225-1G>A)
c.105268-1G>A (n.105268-1G>A)
c.100666-1G>A (n.100666-1G>A)
c.100663-1G>A (n.100663-1G>A)
c.97705-1G>A (n.97705-1G>A)
c.79321-1G>A (n.79321-1G>A)
c.100816-1G>A (n.100816-1G>A)
c.100813-1G>A (n.100813-1G>A)
c.100246-1G>A (n.100246-1G>A)
c.97588-1G>A (n.97588-1G>A)
c.97507-1G>A (n.97507-1G>A)
c.79270-1G>A (n.79270-1G>A)
c.69124-1G>A (n.69124-1G>A)
2g.178530118T>ACA349405659TTN,TTN-AS1c.98671-2A>T (n.98671-2A>T)
c.79756-2A>T (n.79756-2A>T)
c.79555-2A>T (n.79555-2A>T)
c.79180-2A>T (n.79180-2A>T)
c.106375-2A>T (n.106375-2A>T)
c.101452-2A>T (n.101452-2A>T)
n.446+6482T>A
n.220-5614T>A
c.105472-2A>T (n.105472-2A>T)
c.79366-2A>T (n.79366-2A>T)
c.79225-2A>T (n.79225-2A>T)
c.105268-2A>T (n.105268-2A>T)
c.100666-2A>T (n.100666-2A>T)
c.100663-2A>T (n.100663-2A>T)
c.97705-2A>T (n.97705-2A>T)
c.79321-2A>T (n.79321-2A>T)
c.100816-2A>T (n.100816-2A>T)
c.100813-2A>T (n.100813-2A>T)
c.100246-2A>T (n.100246-2A>T)
c.97588-2A>T (n.97588-2A>T)
c.97507-2A>T (n.97507-2A>T)
c.79270-2A>T (n.79270-2A>T)
c.69124-2A>T (n.69124-2A>T)
2g.178530118T>CCA349405662TTN,TTN-AS1c.98671-2A>G (n.98671-2A>G)
c.79756-2A>G (n.79756-2A>G)
c.79555-2A>G (n.79555-2A>G)
c.79180-2A>G (n.79180-2A>G)
c.106375-2A>G (n.106375-2A>G)
c.101452-2A>G (n.101452-2A>G)
n.446+6482T>C
n.220-5614T>C
c.105472-2A>G (n.105472-2A>G)
c.79366-2A>G (n.79366-2A>G)
c.79225-2A>G (n.79225-2A>G)
c.105268-2A>G (n.105268-2A>G)
c.100666-2A>G (n.100666-2A>G)
c.100663-2A>G (n.100663-2A>G)
c.97705-2A>G (n.97705-2A>G)
c.79321-2A>G (n.79321-2A>G)
c.100816-2A>G (n.100816-2A>G)
c.100813-2A>G (n.100813-2A>G)
c.100246-2A>G (n.100246-2A>G)
c.97588-2A>G (n.97588-2A>G)
c.97507-2A>G (n.97507-2A>G)
c.79270-2A>G (n.79270-2A>G)
c.69124-2A>G (n.69124-2A>G)
 ClinVar dbSNP
2g.178530118T>GCA349405657TTN,TTN-AS1c.98671-2A>C (n.98671-2A>C)
c.79756-2A>C (n.79756-2A>C)
c.79555-2A>C (n.79555-2A>C)
c.79180-2A>C (n.79180-2A>C)
c.106375-2A>C (n.106375-2A>C)
c.101452-2A>C (n.101452-2A>C)
n.446+6482T>G
n.220-5614T>G
c.105472-2A>C (n.105472-2A>C)
c.79366-2A>C (n.79366-2A>C)
c.79225-2A>C (n.79225-2A>C)
c.105268-2A>C (n.105268-2A>C)
c.100666-2A>C (n.100666-2A>C)
c.100663-2A>C (n.100663-2A>C)
c.97705-2A>C (n.97705-2A>C)
c.79321-2A>C (n.79321-2A>C)
c.100816-2A>C (n.100816-2A>C)
c.100813-2A>C (n.100813-2A>C)
c.100246-2A>C (n.100246-2A>C)
c.97588-2A>C (n.97588-2A>C)
c.97507-2A>C (n.97507-2A>C)
c.79270-2A>C (n.79270-2A>C)
c.69124-2A>C (n.69124-2A>C)
2g.178530118T=CA1310511537TTN,TTN-AS1c.98671-2A= (n.98671-2A=)
c.79756-2A= (n.79756-2A=)
c.79555-2A= (n.79555-2A=)
c.79180-2A= (n.79180-2A=)
c.106375-2A= (n.106375-2A=)
c.101452-2A= (n.101452-2A=)
n.446+6482T=
n.220-5614T=
c.105472-2A= (n.105472-2A=)
c.79366-2A= (n.79366-2A=)
c.79225-2A= (n.79225-2A=)
c.105268-2A= (n.105268-2A=)
c.100666-2A= (n.100666-2A=)
c.100663-2A= (n.100663-2A=)
c.97705-2A= (n.97705-2A=)
c.79321-2A= (n.79321-2A=)
c.100816-2A= (n.100816-2A=)
c.100813-2A= (n.100813-2A=)
c.100246-2A= (n.100246-2A=)
c.97588-2A= (n.97588-2A=)
c.97507-2A= (n.97507-2A=)
c.79270-2A= (n.79270-2A=)
c.69124-2A= (n.69124-2A=)
2g.178530119G>ACA916081320TTN,TTN-AS1c.98671-3C>T (n.98671-3C>T)
c.79756-3C>T (n.79756-3C>T)
c.79555-3C>T (n.79555-3C>T)
c.79180-3C>T (n.79180-3C>T)
c.106375-3C>T (n.106375-3C>T)
c.101452-3C>T (n.101452-3C>T)
n.446+6483G>A
n.220-5613G>A
c.105472-3C>T (n.105472-3C>T)
c.79366-3C>T (n.79366-3C>T)
c.79225-3C>T (n.79225-3C>T)
c.105268-3C>T (n.105268-3C>T)
c.100666-3C>T (n.100666-3C>T)
c.100663-3C>T (n.100663-3C>T)
c.97705-3C>T (n.97705-3C>T)
c.79321-3C>T (n.79321-3C>T)
c.100816-3C>T (n.100816-3C>T)
c.100813-3C>T (n.100813-3C>T)
c.100246-3C>T (n.100246-3C>T)
c.97588-3C>T (n.97588-3C>T)
c.97507-3C>T (n.97507-3C>T)
c.79270-3C>T (n.79270-3C>T)
c.69124-3C>T (n.69124-3C>T)
 ClinVar dbSNP gnomAD v4
2g.178530119G=CA1310511540TTN,TTN-AS1c.98671-3C= (n.98671-3C=)
c.79756-3C= (n.79756-3C=)
c.79555-3C= (n.79555-3C=)
c.79180-3C= (n.79180-3C=)
c.106375-3C= (n.106375-3C=)
c.101452-3C= (n.101452-3C=)
n.446+6483G=
n.220-5613G=
c.105472-3C= (n.105472-3C=)
c.79366-3C= (n.79366-3C=)
c.79225-3C= (n.79225-3C=)
c.105268-3C= (n.105268-3C=)
c.100666-3C= (n.100666-3C=)
c.100663-3C= (n.100663-3C=)
c.97705-3C= (n.97705-3C=)
c.79321-3C= (n.79321-3C=)
c.100816-3C= (n.100816-3C=)
c.100813-3C= (n.100813-3C=)
c.100246-3C= (n.100246-3C=)
c.97588-3C= (n.97588-3C=)
c.97507-3C= (n.97507-3C=)
c.79270-3C= (n.79270-3C=)
c.69124-3C= (n.69124-3C=)
2g.178530121A=CA1310511544TTN,TTN-AS1c.98671-5T= (n.98671-5T=)
c.79756-5T= (n.79756-5T=)
c.79555-5T= (n.79555-5T=)
c.79180-5T= (n.79180-5T=)
c.106375-5T= (n.106375-5T=)
c.101452-5T= (n.101452-5T=)
n.446+6485A=
n.220-5611A=
c.105472-5T= (n.105472-5T=)
c.79366-5T= (n.79366-5T=)
c.79225-5T= (n.79225-5T=)
c.105268-5T= (n.105268-5T=)
c.100666-5T= (n.100666-5T=)
c.100663-5T= (n.100663-5T=)
c.97705-5T= (n.97705-5T=)
c.79321-5T= (n.79321-5T=)
c.100816-5T= (n.100816-5T=)
c.100813-5T= (n.100813-5T=)
c.100246-5T= (n.100246-5T=)
c.97588-5T= (n.97588-5T=)
c.97507-5T= (n.97507-5T=)
c.79270-5T= (n.79270-5T=)
c.69124-5T= (n.69124-5T=)
2g.178530121A>CCA761284420TTN,TTN-AS1c.98671-5T>G (n.98671-5T>G)
c.79756-5T>G (n.79756-5T>G)
c.79555-5T>G (n.79555-5T>G)
c.79180-5T>G (n.79180-5T>G)
c.106375-5T>G (n.106375-5T>G)
c.101452-5T>G (n.101452-5T>G)
n.446+6485A>C
n.220-5611A>C
c.105472-5T>G (n.105472-5T>G)
c.79366-5T>G (n.79366-5T>G)
c.79225-5T>G (n.79225-5T>G)
c.105268-5T>G (n.105268-5T>G)
c.100666-5T>G (n.100666-5T>G)
c.100663-5T>G (n.100663-5T>G)
c.97705-5T>G (n.97705-5T>G)
c.79321-5T>G (n.79321-5T>G)
c.100816-5T>G (n.100816-5T>G)
c.100813-5T>G (n.100813-5T>G)
c.100246-5T>G (n.100246-5T>G)
c.97588-5T>G (n.97588-5T>G)
c.97507-5T>G (n.97507-5T>G)
c.79270-5T>G (n.79270-5T>G)
c.69124-5T>G (n.69124-5T>G)
 dbSNP
2g.178530122G>ACA2573134085TTN,TTN-AS1c.98671-6C>T (n.98671-6C>T)
c.79756-6C>T (n.79756-6C>T)
c.79555-6C>T (n.79555-6C>T)
c.79180-6C>T (n.79180-6C>T)
c.106375-6C>T (n.106375-6C>T)
c.101452-6C>T (n.101452-6C>T)
n.446+6486G>A
n.220-5610G>A
c.105472-6C>T (n.105472-6C>T)
c.79366-6C>T (n.79366-6C>T)
c.79225-6C>T (n.79225-6C>T)
c.105268-6C>T (n.105268-6C>T)
c.100666-6C>T (n.100666-6C>T)
c.100663-6C>T (n.100663-6C>T)
c.97705-6C>T (n.97705-6C>T)
c.79321-6C>T (n.79321-6C>T)
c.100816-6C>T (n.100816-6C>T)
c.100813-6C>T (n.100813-6C>T)
c.100246-6C>T (n.100246-6C>T)
c.97588-6C>T (n.97588-6C>T)
c.97507-6C>T (n.97507-6C>T)
c.79270-6C>T (n.79270-6C>T)
c.69124-6C>T (n.69124-6C>T)
 ClinVar dbSNP
2g.178530123A=CA1310511545TTN,TTN-AS1c.98671-7T= (n.98671-7T=)
c.79756-7T= (n.79756-7T=)
c.79555-7T= (n.79555-7T=)
c.79180-7T= (n.79180-7T=)
c.106375-7T= (n.106375-7T=)
c.101452-7T= (n.101452-7T=)
n.446+6487A=
n.220-5609A=
c.105472-7T= (n.105472-7T=)
c.79366-7T= (n.79366-7T=)
c.79225-7T= (n.79225-7T=)
c.105268-7T= (n.105268-7T=)
c.100666-7T= (n.100666-7T=)
c.100663-7T= (n.100663-7T=)
c.97705-7T= (n.97705-7T=)
c.79321-7T= (n.79321-7T=)
c.100816-7T= (n.100816-7T=)
c.100813-7T= (n.100813-7T=)
c.100246-7T= (n.100246-7T=)
c.97588-7T= (n.97588-7T=)
c.97507-7T= (n.97507-7T=)
c.79270-7T= (n.79270-7T=)
c.69124-7T= (n.69124-7T=)
2g.178530123A>CCA2662125464TTN,TTN-AS1c.98671-7T>G (n.98671-7T>G)
c.79756-7T>G (n.79756-7T>G)
c.79555-7T>G (n.79555-7T>G)
c.79180-7T>G (n.79180-7T>G)
c.106375-7T>G (n.106375-7T>G)
c.101452-7T>G (n.101452-7T>G)
n.446+6487A>C
n.220-5609A>C
c.105472-7T>G (n.105472-7T>G)
c.79366-7T>G (n.79366-7T>G)
c.79225-7T>G (n.79225-7T>G)
c.105268-7T>G (n.105268-7T>G)
c.100666-7T>G (n.100666-7T>G)
c.100663-7T>G (n.100663-7T>G)
c.97705-7T>G (n.97705-7T>G)
c.79321-7T>G (n.79321-7T>G)
c.100816-7T>G (n.100816-7T>G)
c.100813-7T>G (n.100813-7T>G)
c.100246-7T>G (n.100246-7T>G)
c.97588-7T>G (n.97588-7T>G)
c.97507-7T>G (n.97507-7T>G)
c.79270-7T>G (n.79270-7T>G)
c.69124-7T>G (n.69124-7T>G)
 gnomAD v4
2g.178530123A>GCA60953086TTN,TTN-AS1c.98671-7T>C (n.98671-7T>C)
c.79756-7T>C (n.79756-7T>C)
c.79555-7T>C (n.79555-7T>C)
c.79180-7T>C (n.79180-7T>C)
c.106375-7T>C (n.106375-7T>C)
c.101452-7T>C (n.101452-7T>C)
n.446+6487A>G
n.220-5609A>G
c.105472-7T>C (n.105472-7T>C)
c.79366-7T>C (n.79366-7T>C)
c.79225-7T>C (n.79225-7T>C)
c.105268-7T>C (n.105268-7T>C)
c.100666-7T>C (n.100666-7T>C)
c.100663-7T>C (n.100663-7T>C)
c.97705-7T>C (n.97705-7T>C)
c.79321-7T>C (n.79321-7T>C)
c.100816-7T>C (n.100816-7T>C)
c.100813-7T>C (n.100813-7T>C)
c.100246-7T>C (n.100246-7T>C)
c.97588-7T>C (n.97588-7T>C)
c.97507-7T>C (n.97507-7T>C)
c.79270-7T>C (n.79270-7T>C)
c.69124-7T>C (n.69124-7T>C)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.178530125T>CCA2662125472TTN,TTN-AS1c.98671-9A>G (n.98671-9A>G)
c.79756-9A>G (n.79756-9A>G)
c.79555-9A>G (n.79555-9A>G)
c.79180-9A>G (n.79180-9A>G)
c.106375-9A>G (n.106375-9A>G)
c.101452-9A>G (n.101452-9A>G)
n.446+6489T>C
n.220-5607T>C
c.105472-9A>G (n.105472-9A>G)
c.79366-9A>G (n.79366-9A>G)
c.79225-9A>G (n.79225-9A>G)
c.105268-9A>G (n.105268-9A>G)
c.100666-9A>G (n.100666-9A>G)
c.100663-9A>G (n.100663-9A>G)
c.97705-9A>G (n.97705-9A>G)
c.79321-9A>G (n.79321-9A>G)
c.100816-9A>G (n.100816-9A>G)
c.100813-9A>G (n.100813-9A>G)
c.100246-9A>G (n.100246-9A>G)
c.97588-9A>G (n.97588-9A>G)
c.97507-9A>G (n.97507-9A>G)
c.79270-9A>G (n.79270-9A>G)
c.69124-9A>G (n.69124-9A>G)
 gnomAD v4
2g.178530126G>ACA2662125474TTN,TTN-AS1c.98671-10C>T (n.98671-10C>T)
c.79756-10C>T (n.79756-10C>T)
c.79555-10C>T (n.79555-10C>T)
c.79180-10C>T (n.79180-10C>T)
c.106375-10C>T (n.106375-10C>T)
c.101452-10C>T (n.101452-10C>T)
n.446+6490G>A
n.220-5606G>A
c.105472-10C>T (n.105472-10C>T)
c.79366-10C>T (n.79366-10C>T)
c.79225-10C>T (n.79225-10C>T)
c.105268-10C>T (n.105268-10C>T)
c.100666-10C>T (n.100666-10C>T)
c.100663-10C>T (n.100663-10C>T)
c.97705-10C>T (n.97705-10C>T)
c.79321-10C>T (n.79321-10C>T)
c.100816-10C>T (n.100816-10C>T)
c.100813-10C>T (n.100813-10C>T)
c.100246-10C>T (n.100246-10C>T)
c.97588-10C>T (n.97588-10C>T)
c.97507-10C>T (n.97507-10C>T)
c.79270-10C>T (n.79270-10C>T)
c.69124-10C>T (n.69124-10C>T)
 gnomAD v4
2g.178530131T=CA1310511548TTN,TTN-AS1c.98671-15A= (n.98671-15A=)
c.79756-15A= (n.79756-15A=)
c.79555-15A= (n.79555-15A=)
c.79180-15A= (n.79180-15A=)
c.106375-15A= (n.106375-15A=)
c.101452-15A= (n.101452-15A=)
n.446+6495T=
n.220-5601T=
c.105472-15A= (n.105472-15A=)
c.79366-15A= (n.79366-15A=)
c.79225-15A= (n.79225-15A=)
c.105268-15A= (n.105268-15A=)
c.100666-15A= (n.100666-15A=)
c.100663-15A= (n.100663-15A=)
c.97705-15A= (n.97705-15A=)
c.79321-15A= (n.79321-15A=)
c.100816-15A= (n.100816-15A=)
c.100813-15A= (n.100813-15A=)
c.100246-15A= (n.100246-15A=)
c.97588-15A= (n.97588-15A=)
c.97507-15A= (n.97507-15A=)
c.79270-15A= (n.79270-15A=)
c.69124-15A= (n.69124-15A=)
2g.178530131_178530132insTAACAATAAAAGGTAGGTTGCA538090274TTN,TTN-AS1c.98671-16_98671-15insCAACCTACCTTTTATTGTTA (n.98671-16_98671-15insCAACCTACCTTTTATTGTTA)
c.79756-16_79756-15insCAACCTACCTTTTATTGTTA (n.79756-16_79756-15insCAACCTACCTTTTATTGTTA)
c.79555-16_79555-15insCAACCTACCTTTTATTGTTA (n.79555-16_79555-15insCAACCTACCTTTTATTGTTA)
c.79180-16_79180-15insCAACCTACCTTTTATTGTTA (n.79180-16_79180-15insCAACCTACCTTTTATTGTTA)
c.106375-16_106375-15insCAACCTACCTTTTATTGTTA (n.106375-16_106375-15insCAACCTACCTTTTATTGTTA)
c.101452-16_101452-15insCAACCTACCTTTTATTGTTA (n.101452-16_101452-15insCAACCTACCTTTTATTGTTA)
n.446+6495_446+6496insTAACAATAAAAGGTAGGTTG
n.220-5601_220-5600insTAACAATAAAAGGTAGGTTG
c.105472-16_105472-15insCAACCTACCTTTTATTGTTA (n.105472-16_105472-15insCAACCTACCTTTTATTGTTA)
c.79366-16_79366-15insCAACCTACCTTTTATTGTTA (n.79366-16_79366-15insCAACCTACCTTTTATTGTTA)
c.79225-16_79225-15insCAACCTACCTTTTATTGTTA (n.79225-16_79225-15insCAACCTACCTTTTATTGTTA)
c.105268-16_105268-15insCAACCTACCTTTTATTGTTA (n.105268-16_105268-15insCAACCTACCTTTTATTGTTA)
c.100666-16_100666-15insCAACCTACCTTTTATTGTTA (n.100666-16_100666-15insCAACCTACCTTTTATTGTTA)
c.100663-16_100663-15insCAACCTACCTTTTATTGTTA (n.100663-16_100663-15insCAACCTACCTTTTATTGTTA)
c.97705-16_97705-15insCAACCTACCTTTTATTGTTA (n.97705-16_97705-15insCAACCTACCTTTTATTGTTA)
c.79321-16_79321-15insCAACCTACCTTTTATTGTTA (n.79321-16_79321-15insCAACCTACCTTTTATTGTTA)
c.100816-16_100816-15insCAACCTACCTTTTATTGTTA (n.100816-16_100816-15insCAACCTACCTTTTATTGTTA)
c.100813-16_100813-15insCAACCTACCTTTTATTGTTA (n.100813-16_100813-15insCAACCTACCTTTTATTGTTA)
c.100246-16_100246-15insCAACCTACCTTTTATTGTTA (n.100246-16_100246-15insCAACCTACCTTTTATTGTTA)
c.97588-16_97588-15insCAACCTACCTTTTATTGTTA (n.97588-16_97588-15insCAACCTACCTTTTATTGTTA)
c.97507-16_97507-15insCAACCTACCTTTTATTGTTA (n.97507-16_97507-15insCAACCTACCTTTTATTGTTA)
c.79270-16_79270-15insCAACCTACCTTTTATTGTTA (n.79270-16_79270-15insCAACCTACCTTTTATTGTTA)
c.69124-16_69124-15insCAACCTACCTTTTATTGTTA (n.69124-16_69124-15insCAACCTACCTTTTATTGTTA)
 dbSNP gnomAD v2
2g.178530132G>CCA1310511551TTN,TTN-AS1c.98671-16C>G (n.98671-16C>G)
c.79756-16C>G (n.79756-16C>G)
c.79555-16C>G (n.79555-16C>G)
c.79180-16C>G (n.79180-16C>G)
c.106375-16C>G (n.106375-16C>G)
c.101452-16C>G (n.101452-16C>G)
n.446+6496G>C
n.220-5600G>C
c.105472-16C>G (n.105472-16C>G)
c.79366-16C>G (n.79366-16C>G)
c.79225-16C>G (n.79225-16C>G)
c.105268-16C>G (n.105268-16C>G)
c.100666-16C>G (n.100666-16C>G)
c.100663-16C>G (n.100663-16C>G)
c.97705-16C>G (n.97705-16C>G)
c.79321-16C>G (n.79321-16C>G)
c.100816-16C>G (n.100816-16C>G)
c.100813-16C>G (n.100813-16C>G)
c.100246-16C>G (n.100246-16C>G)
c.97588-16C>G (n.97588-16C>G)
c.97507-16C>G (n.97507-16C>G)
c.79270-16C>G (n.79270-16C>G)
c.69124-16C>G (n.69124-16C>G)
 dbSNP
2g.178530132G=CA1310511550TTN,TTN-AS1c.98671-16C= (n.98671-16C=)
c.79756-16C= (n.79756-16C=)
c.79555-16C= (n.79555-16C=)
c.79180-16C= (n.79180-16C=)
c.106375-16C= (n.106375-16C=)
c.101452-16C= (n.101452-16C=)
n.446+6496G=
n.220-5600G=
c.105472-16C= (n.105472-16C=)
c.79366-16C= (n.79366-16C=)
c.79225-16C= (n.79225-16C=)
c.105268-16C= (n.105268-16C=)
c.100666-16C= (n.100666-16C=)
c.100663-16C= (n.100663-16C=)
c.97705-16C= (n.97705-16C=)
c.79321-16C= (n.79321-16C=)
c.100816-16C= (n.100816-16C=)
c.100813-16C= (n.100813-16C=)
c.100246-16C= (n.100246-16C=)
c.97588-16C= (n.97588-16C=)
c.97507-16C= (n.97507-16C=)
c.79270-16C= (n.79270-16C=)
c.69124-16C= (n.69124-16C=)
2g.178530132G>TCA2753330715TTN,TTN-AS1c.98671-16C>A (n.98671-16C>A)
c.79756-16C>A (n.79756-16C>A)
c.79555-16C>A (n.79555-16C>A)
c.79180-16C>A (n.79180-16C>A)
c.106375-16C>A (n.106375-16C>A)
c.101452-16C>A (n.101452-16C>A)
n.446+6496G>T
n.220-5600G>T
c.105472-16C>A (n.105472-16C>A)
c.79366-16C>A (n.79366-16C>A)
c.79225-16C>A (n.79225-16C>A)
c.105268-16C>A (n.105268-16C>A)
c.100666-16C>A (n.100666-16C>A)
c.100663-16C>A (n.100663-16C>A)
c.97705-16C>A (n.97705-16C>A)
c.79321-16C>A (n.79321-16C>A)
c.100816-16C>A (n.100816-16C>A)
c.100813-16C>A (n.100813-16C>A)
c.100246-16C>A (n.100246-16C>A)
c.97588-16C>A (n.97588-16C>A)
c.97507-16C>A (n.97507-16C>A)
c.79270-16C>A (n.79270-16C>A)
c.69124-16C>A (n.69124-16C>A)
2g.178530133A=CA1310511555TTN,TTN-AS1c.98671-17T= (n.98671-17T=)
c.79756-17T= (n.79756-17T=)
c.79555-17T= (n.79555-17T=)
c.79180-17T= (n.79180-17T=)
c.106375-17T= (n.106375-17T=)
c.101452-17T= (n.101452-17T=)
n.446+6497A=
n.220-5599A=
c.105472-17T= (n.105472-17T=)
c.79366-17T= (n.79366-17T=)
c.79225-17T= (n.79225-17T=)
c.105268-17T= (n.105268-17T=)
c.100666-17T= (n.100666-17T=)
c.100663-17T= (n.100663-17T=)
c.97705-17T= (n.97705-17T=)
c.79321-17T= (n.79321-17T=)
c.100816-17T= (n.100816-17T=)
c.100813-17T= (n.100813-17T=)
c.100246-17T= (n.100246-17T=)
c.97588-17T= (n.97588-17T=)
c.97507-17T= (n.97507-17T=)
c.79270-17T= (n.79270-17T=)
c.69124-17T= (n.69124-17T=)
2g.178530133A>CCA538090275TTN,TTN-AS1c.98671-17T>G (n.98671-17T>G)
c.79756-17T>G (n.79756-17T>G)
c.79555-17T>G (n.79555-17T>G)
c.79180-17T>G (n.79180-17T>G)
c.106375-17T>G (n.106375-17T>G)
c.101452-17T>G (n.101452-17T>G)
n.446+6497A>C
n.220-5599A>C
c.105472-17T>G (n.105472-17T>G)
c.79366-17T>G (n.79366-17T>G)
c.79225-17T>G (n.79225-17T>G)
c.105268-17T>G (n.105268-17T>G)
c.100666-17T>G (n.100666-17T>G)
c.100663-17T>G (n.100663-17T>G)
c.97705-17T>G (n.97705-17T>G)
c.79321-17T>G (n.79321-17T>G)
c.100816-17T>G (n.100816-17T>G)
c.100813-17T>G (n.100813-17T>G)
c.100246-17T>G (n.100246-17T>G)
c.97588-17T>G (n.97588-17T>G)
c.97507-17T>G (n.97507-17T>G)
c.79270-17T>G (n.79270-17T>G)
c.69124-17T>G (n.69124-17T>G)
 dbSNP gnomAD v2 gnomAD v4
2g.178530133_178530137delinsATTTGCA1310511553TTN,TTN-AS1c.98671-21_98671-17delinsCAAAT (n.98671-21_98671-17delinsCAAAT)
c.79756-21_79756-17delinsCAAAT (n.79756-21_79756-17delinsCAAAT)
c.79555-21_79555-17delinsCAAAT (n.79555-21_79555-17delinsCAAAT)
c.79180-21_79180-17delinsCAAAT (n.79180-21_79180-17delinsCAAAT)
c.106375-21_106375-17delinsCAAAT (n.106375-21_106375-17delinsCAAAT)
c.101452-21_101452-17delinsCAAAT (n.101452-21_101452-17delinsCAAAT)
n.446+6497_446+6501delinsATTTG
n.220-5599_220-5595delinsATTTG
c.105472-21_105472-17delinsCAAAT (n.105472-21_105472-17delinsCAAAT)
c.79366-21_79366-17delinsCAAAT (n.79366-21_79366-17delinsCAAAT)
c.79225-21_79225-17delinsCAAAT (n.79225-21_79225-17delinsCAAAT)
c.105268-21_105268-17delinsCAAAT (n.105268-21_105268-17delinsCAAAT)
c.100666-21_100666-17delinsCAAAT (n.100666-21_100666-17delinsCAAAT)
c.100663-21_100663-17delinsCAAAT (n.100663-21_100663-17delinsCAAAT)
c.97705-21_97705-17delinsCAAAT (n.97705-21_97705-17delinsCAAAT)
c.79321-21_79321-17delinsCAAAT (n.79321-21_79321-17delinsCAAAT)
c.100816-21_100816-17delinsCAAAT (n.100816-21_100816-17delinsCAAAT)
c.100813-21_100813-17delinsCAAAT (n.100813-21_100813-17delinsCAAAT)
c.100246-21_100246-17delinsCAAAT (n.100246-21_100246-17delinsCAAAT)
c.97588-21_97588-17delinsCAAAT (n.97588-21_97588-17delinsCAAAT)
c.97507-21_97507-17delinsCAAAT (n.97507-21_97507-17delinsCAAAT)
c.79270-21_79270-17delinsCAAAT (n.79270-21_79270-17delinsCAAAT)
c.69124-21_69124-17delinsCAAAT (n.69124-21_69124-17delinsCAAAT)
2g.178530135_178530138delCA1310511557TTN,TTN-AS1c.98671-21_98671-18del (n.98671-21_98671-18del)
c.79756-21_79756-18del (n.79756-21_79756-18del)
c.79555-21_79555-18del (n.79555-21_79555-18del)
c.79180-21_79180-18del (n.79180-21_79180-18del)
c.106375-21_106375-18del (n.106375-21_106375-18del)
c.101452-21_101452-18del (n.101452-21_101452-18del)
n.446+6499_446+6502del
n.220-5597_220-5594del
c.105472-21_105472-18del (n.105472-21_105472-18del)
c.79366-21_79366-18del (n.79366-21_79366-18del)
c.79225-21_79225-18del (n.79225-21_79225-18del)
c.105268-21_105268-18del (n.105268-21_105268-18del)
c.100666-21_100666-18del (n.100666-21_100666-18del)
c.100663-21_100663-18del (n.100663-21_100663-18del)
c.97705-21_97705-18del (n.97705-21_97705-18del)
c.79321-21_79321-18del (n.79321-21_79321-18del)
c.100816-21_100816-18del (n.100816-21_100816-18del)
c.100813-21_100813-18del (n.100813-21_100813-18del)
c.100246-21_100246-18del (n.100246-21_100246-18del)
c.97588-21_97588-18del (n.97588-21_97588-18del)
c.97507-21_97507-18del (n.97507-21_97507-18del)
c.79270-21_79270-18del (n.79270-21_79270-18del)
c.69124-21_69124-18del (n.69124-21_69124-18del)
 dbSNP
2g.178530135T>ACA2740095949TTN,TTN-AS1c.98671-19A>T (n.98671-19A>T)
c.79756-19A>T (n.79756-19A>T)
c.79555-19A>T (n.79555-19A>T)
c.79180-19A>T (n.79180-19A>T)
c.106375-19A>T (n.106375-19A>T)
c.101452-19A>T (n.101452-19A>T)
n.446+6499T>A
n.220-5597T>A
c.105472-19A>T (n.105472-19A>T)
c.79366-19A>T (n.79366-19A>T)
c.79225-19A>T (n.79225-19A>T)
c.105268-19A>T (n.105268-19A>T)
c.100666-19A>T (n.100666-19A>T)
c.100663-19A>T (n.100663-19A>T)
c.97705-19A>T (n.97705-19A>T)
c.79321-19A>T (n.79321-19A>T)
c.100816-19A>T (n.100816-19A>T)
c.100813-19A>T (n.100813-19A>T)
c.100246-19A>T (n.100246-19A>T)
c.97588-19A>T (n.97588-19A>T)
c.97507-19A>T (n.97507-19A>T)
c.79270-19A>T (n.79270-19A>T)
c.69124-19A>T (n.69124-19A>T)
 ClinVar
2g.178530135T>CCA2580064915TTN,TTN-AS1c.98671-19A>G (n.98671-19A>G)
c.79756-19A>G (n.79756-19A>G)
c.79555-19A>G (n.79555-19A>G)
c.79180-19A>G (n.79180-19A>G)
c.106375-19A>G (n.106375-19A>G)
c.101452-19A>G (n.101452-19A>G)
n.446+6499T>C
n.220-5597T>C
c.105472-19A>G (n.105472-19A>G)
c.79366-19A>G (n.79366-19A>G)
c.79225-19A>G (n.79225-19A>G)
c.105268-19A>G (n.105268-19A>G)
c.100666-19A>G (n.100666-19A>G)
c.100663-19A>G (n.100663-19A>G)
c.97705-19A>G (n.97705-19A>G)
c.79321-19A>G (n.79321-19A>G)
c.100816-19A>G (n.100816-19A>G)
c.100813-19A>G (n.100813-19A>G)
c.100246-19A>G (n.100246-19A>G)
c.97588-19A>G (n.97588-19A>G)
c.97507-19A>G (n.97507-19A>G)
c.79270-19A>G (n.79270-19A>G)
c.69124-19A>G (n.69124-19A>G)
 ClinVar
2g.178530135_178530137delinsTTGCA1310511561TTN,TTN-AS1c.98671-21_98671-19delinsCAA (n.98671-21_98671-19delinsCAA)
c.79756-21_79756-19delinsCAA (n.79756-21_79756-19delinsCAA)
c.79555-21_79555-19delinsCAA (n.79555-21_79555-19delinsCAA)
c.79180-21_79180-19delinsCAA (n.79180-21_79180-19delinsCAA)
c.106375-21_106375-19delinsCAA (n.106375-21_106375-19delinsCAA)
c.101452-21_101452-19delinsCAA (n.101452-21_101452-19delinsCAA)
n.446+6499_446+6501delinsTTG
n.220-5597_220-5595delinsTTG
c.105472-21_105472-19delinsCAA (n.105472-21_105472-19delinsCAA)
c.79366-21_79366-19delinsCAA (n.79366-21_79366-19delinsCAA)
c.79225-21_79225-19delinsCAA (n.79225-21_79225-19delinsCAA)
c.105268-21_105268-19delinsCAA (n.105268-21_105268-19delinsCAA)
c.100666-21_100666-19delinsCAA (n.100666-21_100666-19delinsCAA)
c.100663-21_100663-19delinsCAA (n.100663-21_100663-19delinsCAA)
c.97705-21_97705-19delinsCAA (n.97705-21_97705-19delinsCAA)
c.79321-21_79321-19delinsCAA (n.79321-21_79321-19delinsCAA)
c.100816-21_100816-19delinsCAA (n.100816-21_100816-19delinsCAA)
c.100813-21_100813-19delinsCAA (n.100813-21_100813-19delinsCAA)
c.100246-21_100246-19delinsCAA (n.100246-21_100246-19delinsCAA)
c.97588-21_97588-19delinsCAA (n.97588-21_97588-19delinsCAA)
c.97507-21_97507-19delinsCAA (n.97507-21_97507-19delinsCAA)
c.79270-21_79270-19delinsCAA (n.79270-21_79270-19delinsCAA)
c.69124-21_69124-19delinsCAA (n.69124-21_69124-19delinsCAA)
2g.178530136T>CCA2522479503TTN,TTN-AS1c.98671-20A>G (n.98671-20A>G)
c.79756-20A>G (n.79756-20A>G)
c.79555-20A>G (n.79555-20A>G)
c.79180-20A>G (n.79180-20A>G)
c.106375-20A>G (n.106375-20A>G)
c.101452-20A>G (n.101452-20A>G)
n.446+6500T>C
n.220-5596T>C
c.105472-20A>G (n.105472-20A>G)
c.79366-20A>G (n.79366-20A>G)
c.79225-20A>G (n.79225-20A>G)
c.105268-20A>G (n.105268-20A>G)
c.100666-20A>G (n.100666-20A>G)
c.100663-20A>G (n.100663-20A>G)
c.97705-20A>G (n.97705-20A>G)
c.79321-20A>G (n.79321-20A>G)
c.100816-20A>G (n.100816-20A>G)
c.100813-20A>G (n.100813-20A>G)
c.100246-20A>G (n.100246-20A>G)
c.97588-20A>G (n.97588-20A>G)
c.97507-20A>G (n.97507-20A>G)
c.79270-20A>G (n.79270-20A>G)
c.69124-20A>G (n.69124-20A>G)
 ClinVar gnomAD v4
2g.178530139_178530140delCA1985115TTN,TTN-AS1c.98671-21_98671-20del (n.98671-21_98671-20del)
c.79756-21_79756-20del (n.79756-21_79756-20del)
c.79555-21_79555-20del (n.79555-21_79555-20del)
c.79180-21_79180-20del (n.79180-21_79180-20del)
c.106375-21_106375-20del (n.106375-21_106375-20del)
c.101452-21_101452-20del (n.101452-21_101452-20del)
n.446+6503_446+6504del
n.220-5593_220-5592del
c.105472-21_105472-20del (n.105472-21_105472-20del)
c.79366-21_79366-20del (n.79366-21_79366-20del)
c.79225-21_79225-20del (n.79225-21_79225-20del)
c.105268-21_105268-20del (n.105268-21_105268-20del)
c.100666-21_100666-20del (n.100666-21_100666-20del)
c.100663-21_100663-20del (n.100663-21_100663-20del)
c.97705-21_97705-20del (n.97705-21_97705-20del)
c.79321-21_79321-20del (n.79321-21_79321-20del)
c.100816-21_100816-20del (n.100816-21_100816-20del)
c.100813-21_100813-20del (n.100813-21_100813-20del)
c.100246-21_100246-20del (n.100246-21_100246-20del)
c.97588-21_97588-20del (n.97588-21_97588-20del)
c.97507-21_97507-20del (n.97507-21_97507-20del)
c.79270-21_79270-20del (n.79270-21_79270-20del)
c.69124-21_69124-20del (n.69124-21_69124-20del)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178530137G>CCA1310511564TTN,TTN-AS1c.98671-21C>G (n.98671-21C>G)
c.79756-21C>G (n.79756-21C>G)
c.79555-21C>G (n.79555-21C>G)
c.79180-21C>G (n.79180-21C>G)
c.106375-21C>G (n.106375-21C>G)
c.101452-21C>G (n.101452-21C>G)
n.446+6501G>C
n.220-5595G>C
c.105472-21C>G (n.105472-21C>G)
c.79366-21C>G (n.79366-21C>G)
c.79225-21C>G (n.79225-21C>G)
c.105268-21C>G (n.105268-21C>G)
c.100666-21C>G (n.100666-21C>G)
c.100663-21C>G (n.100663-21C>G)
c.97705-21C>G (n.97705-21C>G)
c.79321-21C>G (n.79321-21C>G)
c.100816-21C>G (n.100816-21C>G)
c.100813-21C>G (n.100813-21C>G)
c.100246-21C>G (n.100246-21C>G)
c.97588-21C>G (n.97588-21C>G)
c.97507-21C>G (n.97507-21C>G)
c.79270-21C>G (n.79270-21C>G)
c.69124-21C>G (n.69124-21C>G)
 dbSNP
2g.178530137G=CA1310511563TTN,TTN-AS1c.98671-21C= (n.98671-21C=)
c.79756-21C= (n.79756-21C=)
c.79555-21C= (n.79555-21C=)
c.79180-21C= (n.79180-21C=)
c.106375-21C= (n.106375-21C=)
c.101452-21C= (n.101452-21C=)
n.446+6501G=
n.220-5595G=
c.105472-21C= (n.105472-21C=)
c.79366-21C= (n.79366-21C=)
c.79225-21C= (n.79225-21C=)
c.105268-21C= (n.105268-21C=)
c.100666-21C= (n.100666-21C=)
c.100663-21C= (n.100663-21C=)
c.97705-21C= (n.97705-21C=)
c.79321-21C= (n.79321-21C=)
c.100816-21C= (n.100816-21C=)
c.100813-21C= (n.100813-21C=)
c.100246-21C= (n.100246-21C=)
c.97588-21C= (n.97588-21C=)
c.97507-21C= (n.97507-21C=)
c.79270-21C= (n.79270-21C=)
c.69124-21C= (n.69124-21C=)
2g.178530138T>ACA1310511569TTN,TTN-AS1c.98671-22A>T (n.98671-22A>T)
c.79756-22A>T (n.79756-22A>T)
c.79555-22A>T (n.79555-22A>T)
c.79180-22A>T (n.79180-22A>T)
c.106375-22A>T (n.106375-22A>T)
c.101452-22A>T (n.101452-22A>T)
n.446+6502T>A
n.220-5594T>A
c.105472-22A>T (n.105472-22A>T)
c.79366-22A>T (n.79366-22A>T)
c.79225-22A>T (n.79225-22A>T)
c.105268-22A>T (n.105268-22A>T)
c.100666-22A>T (n.100666-22A>T)
c.100663-22A>T (n.100663-22A>T)
c.97705-22A>T (n.97705-22A>T)
c.79321-22A>T (n.79321-22A>T)
c.100816-22A>T (n.100816-22A>T)
c.100813-22A>T (n.100813-22A>T)
c.100246-22A>T (n.100246-22A>T)
c.97588-22A>T (n.97588-22A>T)
c.97507-22A>T (n.97507-22A>T)
c.79270-22A>T (n.79270-22A>T)
c.69124-22A>T (n.69124-22A>T)
 dbSNP
2g.178530138T>CCA2701067091TTN,TTN-AS1c.98671-22A>G (n.98671-22A>G)
c.79756-22A>G (n.79756-22A>G)
c.79555-22A>G (n.79555-22A>G)
c.79180-22A>G (n.79180-22A>G)
c.106375-22A>G (n.106375-22A>G)
c.101452-22A>G (n.101452-22A>G)
n.446+6502T>C
n.220-5594T>C
c.105472-22A>G (n.105472-22A>G)
c.79366-22A>G (n.79366-22A>G)
c.79225-22A>G (n.79225-22A>G)
c.105268-22A>G (n.105268-22A>G)
c.100666-22A>G (n.100666-22A>G)
c.100663-22A>G (n.100663-22A>G)
c.97705-22A>G (n.97705-22A>G)
c.79321-22A>G (n.79321-22A>G)
c.100816-22A>G (n.100816-22A>G)
c.100813-22A>G (n.100813-22A>G)
c.100246-22A>G (n.100246-22A>G)
c.97588-22A>G (n.97588-22A>G)
c.97507-22A>G (n.97507-22A>G)
c.79270-22A>G (n.79270-22A>G)
c.69124-22A>G (n.69124-22A>G)
 dbSNP
2g.178530138T>GCA2662125480TTN,TTN-AS1c.98671-22A>C (n.98671-22A>C)
c.79756-22A>C (n.79756-22A>C)
c.79555-22A>C (n.79555-22A>C)
c.79180-22A>C (n.79180-22A>C)
c.106375-22A>C (n.106375-22A>C)
c.101452-22A>C (n.101452-22A>C)
n.446+6502T>G
n.220-5594T>G
c.105472-22A>C (n.105472-22A>C)
c.79366-22A>C (n.79366-22A>C)
c.79225-22A>C (n.79225-22A>C)
c.105268-22A>C (n.105268-22A>C)
c.100666-22A>C (n.100666-22A>C)
c.100663-22A>C (n.100663-22A>C)
c.97705-22A>C (n.97705-22A>C)
c.79321-22A>C (n.79321-22A>C)
c.100816-22A>C (n.100816-22A>C)
c.100813-22A>C (n.100813-22A>C)
c.100246-22A>C (n.100246-22A>C)
c.97588-22A>C (n.97588-22A>C)
c.97507-22A>C (n.97507-22A>C)
c.79270-22A>C (n.79270-22A>C)
c.69124-22A>C (n.69124-22A>C)
 gnomAD v4
2g.178530138T=CA1310511568TTN,TTN-AS1c.98671-22A= (n.98671-22A=)
c.79756-22A= (n.79756-22A=)
c.79555-22A= (n.79555-22A=)
c.79180-22A= (n.79180-22A=)
c.106375-22A= (n.106375-22A=)
c.101452-22A= (n.101452-22A=)
n.446+6502T=
n.220-5594T=
c.105472-22A= (n.105472-22A=)
c.79366-22A= (n.79366-22A=)
c.79225-22A= (n.79225-22A=)
c.105268-22A= (n.105268-22A=)
c.100666-22A= (n.100666-22A=)
c.100663-22A= (n.100663-22A=)
c.97705-22A= (n.97705-22A=)
c.79321-22A= (n.79321-22A=)
c.100816-22A= (n.100816-22A=)
c.100813-22A= (n.100813-22A=)
c.100246-22A= (n.100246-22A=)
c.97588-22A= (n.97588-22A=)
c.97507-22A= (n.97507-22A=)
c.79270-22A= (n.79270-22A=)
c.69124-22A= (n.69124-22A=)
2g.178530139delCA2753330717TTN,TTN-AS1c.98671-23del (n.98671-23del)
c.79756-23del (n.79756-23del)
c.79555-23del (n.79555-23del)
c.79180-23del (n.79180-23del)
c.106375-23del (n.106375-23del)
c.101452-23del (n.101452-23del)
n.446+6503del
n.220-5593del
c.105472-23del (n.105472-23del)
c.79366-23del (n.79366-23del)
c.79225-23del (n.79225-23del)
c.105268-23del (n.105268-23del)
c.100666-23del (n.100666-23del)
c.100663-23del (n.100663-23del)
c.97705-23del (n.97705-23del)
c.79321-23del (n.79321-23del)
c.100816-23del (n.100816-23del)
c.100813-23del (n.100813-23del)
c.100246-23del (n.100246-23del)
c.97588-23del (n.97588-23del)
c.97507-23del (n.97507-23del)
c.79270-23del (n.79270-23del)
c.69124-23del (n.69124-23del)
2g.178530139G=CA1310511570TTN,TTN-AS1c.98671-23C= (n.98671-23C=)
c.79756-23C= (n.79756-23C=)
c.79555-23C= (n.79555-23C=)
c.79180-23C= (n.79180-23C=)
c.106375-23C= (n.106375-23C=)
c.101452-23C= (n.101452-23C=)
n.446+6503G=
n.220-5593G=
c.105472-23C= (n.105472-23C=)
c.79366-23C= (n.79366-23C=)
c.79225-23C= (n.79225-23C=)
c.105268-23C= (n.105268-23C=)
c.100666-23C= (n.100666-23C=)
c.100663-23C= (n.100663-23C=)
c.97705-23C= (n.97705-23C=)
c.79321-23C= (n.79321-23C=)
c.100816-23C= (n.100816-23C=)
c.100813-23C= (n.100813-23C=)
c.100246-23C= (n.100246-23C=)
c.97588-23C= (n.97588-23C=)
c.97507-23C= (n.97507-23C=)
c.79270-23C= (n.79270-23C=)
c.69124-23C= (n.69124-23C=)
2g.178530139G>TCA761284422TTN,TTN-AS1c.98671-23C>A (n.98671-23C>A)
c.79756-23C>A (n.79756-23C>A)
c.79555-23C>A (n.79555-23C>A)
c.79180-23C>A (n.79180-23C>A)
c.106375-23C>A (n.106375-23C>A)
c.101452-23C>A (n.101452-23C>A)
n.446+6503G>T
n.220-5593G>T
c.105472-23C>A (n.105472-23C>A)
c.79366-23C>A (n.79366-23C>A)
c.79225-23C>A (n.79225-23C>A)
c.105268-23C>A (n.105268-23C>A)
c.100666-23C>A (n.100666-23C>A)
c.100663-23C>A (n.100663-23C>A)
c.97705-23C>A (n.97705-23C>A)
c.79321-23C>A (n.79321-23C>A)
c.100816-23C>A (n.100816-23C>A)
c.100813-23C>A (n.100813-23C>A)
c.100246-23C>A (n.100246-23C>A)
c.97588-23C>A (n.97588-23C>A)
c.97507-23C>A (n.97507-23C>A)
c.79270-23C>A (n.79270-23C>A)
c.69124-23C>A (n.69124-23C>A)
 dbSNP gnomAD v4

Number of alleles fetched