Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.178544314A=CA1310521506TTN,TTN-AS1c.88211T= (p.Val29404=)
c.69296T= (p.Val23099=)
c.69095T= (p.Val23032=)
c.68720T= (p.Val22907=)
c.95915T= (p.Val31972=)
c.90992T= (p.Val30331=)
n.446+20678A=
n.2043+1953A=
c.95012T= (p.Val31671=)
c.68906T= (p.Val22969=)
c.68765T= (p.Val22922=)
c.94808T= (p.Val31603=)
c.90206T= (p.Val30069=)
c.90203T= (p.Val30068=)
c.87245T= (p.Val29082=)
c.68861T= (p.Val22954=)
c.90356T= (p.Val30119=)
c.90353T= (p.Val30118=)
c.89786T= (p.Val29929=)
c.87128T= (p.Val29043=)
c.87047T= (p.Val29016=)
c.68810T= (p.Val22937=)
c.58664T= (p.Val19555=)
2g.178544314A>CCA349456067TTN,TTN-AS1c.88211T>G (p.Val29404Gly)
c.69296T>G (p.Val23099Gly)
c.69095T>G (p.Val23032Gly)
c.68720T>G (p.Val22907Gly)
c.95915T>G (p.Val31972Gly)
c.90992T>G (p.Val30331Gly)
n.446+20678A>C
n.2043+1953A>C
c.95012T>G (p.Val31671Gly)
c.68906T>G (p.Val22969Gly)
c.68765T>G (p.Val22922Gly)
c.94808T>G (p.Val31603Gly)
c.90206T>G (p.Val30069Gly)
c.90203T>G (p.Val30068Gly)
c.87245T>G (p.Val29082Gly)
c.68861T>G (p.Val22954Gly)
c.90356T>G (p.Val30119Gly)
c.90353T>G (p.Val30118Gly)
c.89786T>G (p.Val29929Gly)
c.87128T>G (p.Val29043Gly)
c.87047T>G (p.Val29016Gly)
c.68810T>G (p.Val22937Gly)
c.58664T>G (p.Val19555Gly)
2g.178544314A>GCA349456063TTN,TTN-AS1c.88211T>C (p.Val29404Ala)
c.69296T>C (p.Val23099Ala)
c.69095T>C (p.Val23032Ala)
c.68720T>C (p.Val22907Ala)
c.95915T>C (p.Val31972Ala)
c.90992T>C (p.Val30331Ala)
n.446+20678A>G
n.2043+1953A>G
c.95012T>C (p.Val31671Ala)
c.68906T>C (p.Val22969Ala)
c.68765T>C (p.Val22922Ala)
c.94808T>C (p.Val31603Ala)
c.90206T>C (p.Val30069Ala)
c.90203T>C (p.Val30068Ala)
c.87245T>C (p.Val29082Ala)
c.68861T>C (p.Val22954Ala)
c.90356T>C (p.Val30119Ala)
c.90353T>C (p.Val30118Ala)
c.89786T>C (p.Val29929Ala)
c.87128T>C (p.Val29043Ala)
c.87047T>C (p.Val29016Ala)
c.68810T>C (p.Val22937Ala)
c.58664T>C (p.Val19555Ala)
 dbSNP
2g.178544314A>TCA349456072TTN,TTN-AS1c.88211T>A (p.Val29404Glu)
c.69296T>A (p.Val23099Glu)
c.69095T>A (p.Val23032Glu)
c.68720T>A (p.Val22907Glu)
c.95915T>A (p.Val31972Glu)
c.90992T>A (p.Val30331Glu)
n.446+20678A>T
n.2043+1953A>T
c.95012T>A (p.Val31671Glu)
c.68906T>A (p.Val22969Glu)
c.68765T>A (p.Val22922Glu)
c.94808T>A (p.Val31603Glu)
c.90206T>A (p.Val30069Glu)
c.90203T>A (p.Val30068Glu)
c.87245T>A (p.Val29082Glu)
c.68861T>A (p.Val22954Glu)
c.90356T>A (p.Val30119Glu)
c.90353T>A (p.Val30118Glu)
c.89786T>A (p.Val29929Glu)
c.87128T>A (p.Val29043Glu)
c.87047T>A (p.Val29016Glu)
c.68810T>A (p.Val22937Glu)
c.58664T>A (p.Val19555Glu)
2g.178544315C>ACA349456074TTN,TTN-AS1c.88210G>T (p.Val29404Leu)
c.69295G>T (p.Val23099Leu)
c.69094G>T (p.Val23032Leu)
c.68719G>T (p.Val22907Leu)
c.95914G>T (p.Val31972Leu)
c.90991G>T (p.Val30331Leu)
n.446+20679C>A
n.2043+1954C>A
c.95011G>T (p.Val31671Leu)
c.68905G>T (p.Val22969Leu)
c.68764G>T (p.Val22922Leu)
c.94807G>T (p.Val31603Leu)
c.90205G>T (p.Val30069Leu)
c.90202G>T (p.Val30068Leu)
c.87244G>T (p.Val29082Leu)
c.68860G>T (p.Val22954Leu)
c.90355G>T (p.Val30119Leu)
c.90352G>T (p.Val30118Leu)
c.89785G>T (p.Val29929Leu)
c.87127G>T (p.Val29043Leu)
c.87046G>T (p.Val29016Leu)
c.68809G>T (p.Val22937Leu)
c.58663G>T (p.Val19555Leu)
2g.178544315C=CA1310521508TTN,TTN-AS1c.88210G= (p.Val29404=)
c.69295G= (p.Val23099=)
c.69094G= (p.Val23032=)
c.68719G= (p.Val22907=)
c.95914G= (p.Val31972=)
c.90991G= (p.Val30331=)
n.446+20679C=
n.2043+1954C=
c.95011G= (p.Val31671=)
c.68905G= (p.Val22969=)
c.68764G= (p.Val22922=)
c.94807G= (p.Val31603=)
c.90205G= (p.Val30069=)
c.90202G= (p.Val30068=)
c.87244G= (p.Val29082=)
c.68860G= (p.Val22954=)
c.90355G= (p.Val30119=)
c.90352G= (p.Val30118=)
c.89785G= (p.Val29929=)
c.87127G= (p.Val29043=)
c.87046G= (p.Val29016=)
c.68809G= (p.Val22937=)
c.58663G= (p.Val19555=)
2g.178544315C>GCA349456079TTN,TTN-AS1c.88210G>C (p.Val29404Leu)
c.69295G>C (p.Val23099Leu)
c.69094G>C (p.Val23032Leu)
c.68719G>C (p.Val22907Leu)
c.95914G>C (p.Val31972Leu)
c.90991G>C (p.Val30331Leu)
n.446+20679C>G
n.2043+1954C>G
c.95011G>C (p.Val31671Leu)
c.68905G>C (p.Val22969Leu)
c.68764G>C (p.Val22922Leu)
c.94807G>C (p.Val31603Leu)
c.90205G>C (p.Val30069Leu)
c.90202G>C (p.Val30068Leu)
c.87244G>C (p.Val29082Leu)
c.68860G>C (p.Val22954Leu)
c.90355G>C (p.Val30119Leu)
c.90352G>C (p.Val30118Leu)
c.89785G>C (p.Val29929Leu)
c.87127G>C (p.Val29043Leu)
c.87046G>C (p.Val29016Leu)
c.68809G>C (p.Val22937Leu)
c.58663G>C (p.Val19555Leu)
2g.178544315C>TCA1986855TTN,TTN-AS1c.88210G>A (p.Val29404Met)
c.69295G>A (p.Val23099Met)
c.69094G>A (p.Val23032Met)
c.68719G>A (p.Val22907Met)
c.95914G>A (p.Val31972Met)
c.90991G>A (p.Val30331Met)
n.446+20679C>T
n.2043+1954C>T
c.95011G>A (p.Val31671Met)
c.68905G>A (p.Val22969Met)
c.68764G>A (p.Val22922Met)
c.94807G>A (p.Val31603Met)
c.90205G>A (p.Val30069Met)
c.90202G>A (p.Val30068Met)
c.87244G>A (p.Val29082Met)
c.68860G>A (p.Val22954Met)
c.90355G>A (p.Val30119Met)
c.90352G>A (p.Val30118Met)
c.89785G>A (p.Val29929Met)
c.87127G>A (p.Val29043Met)
c.87046G>A (p.Val29016Met)
c.68809G>A (p.Val22937Met)
c.58663G>A (p.Val19555Met)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178544316A=CA1310521510TTN,TTN-AS1c.88209T= (p.Thr29403=)
c.69294T= (p.Thr23098=)
c.69093T= (p.Thr23031=)
c.68718T= (p.Thr22906=)
c.95913T= (p.Thr31971=)
c.90990T= (p.Thr30330=)
n.446+20680A=
n.2043+1955A=
c.95010T= (p.Thr31670=)
c.68904T= (p.Thr22968=)
c.68763T= (p.Thr22921=)
c.94806T= (p.Thr31602=)
c.90204T= (p.Thr30068=)
c.90201T= (p.Thr30067=)
c.87243T= (p.Thr29081=)
c.68859T= (p.Thr22953=)
c.90354T= (p.Thr30118=)
c.90351T= (p.Thr30117=)
c.89784T= (p.Thr29928=)
c.87126T= (p.Thr29042=)
c.87045T= (p.Thr29015=)
c.68808T= (p.Thr22936=)
c.58662T= (p.Thr19554=)
2g.178544316A>CCA430241698TTN,TTN-AS1c.88209T>G (p.Thr29403=)
c.69294T>G (p.Thr23098=)
c.69093T>G (p.Thr23031=)
c.68718T>G (p.Thr22906=)
c.95913T>G (p.Thr31971=)
c.90990T>G (p.Thr30330=)
n.446+20680A>C
n.2043+1955A>C
c.95010T>G (p.Thr31670=)
c.68904T>G (p.Thr22968=)
c.68763T>G (p.Thr22921=)
c.94806T>G (p.Thr31602=)
c.90204T>G (p.Thr30068=)
c.90201T>G (p.Thr30067=)
c.87243T>G (p.Thr29081=)
c.68859T>G (p.Thr22953=)
c.90354T>G (p.Thr30118=)
c.90351T>G (p.Thr30117=)
c.89784T>G (p.Thr29928=)
c.87126T>G (p.Thr29042=)
c.87045T>G (p.Thr29015=)
c.68808T>G (p.Thr22936=)
c.58662T>G (p.Thr19554=)
 ClinVar gnomAD v4
2g.178544316A>GCA430241699TTN,TTN-AS1c.88209T>C (p.Thr29403=)
c.69294T>C (p.Thr23098=)
c.69093T>C (p.Thr23031=)
c.68718T>C (p.Thr22906=)
c.95913T>C (p.Thr31971=)
c.90990T>C (p.Thr30330=)
n.446+20680A>G
n.2043+1955A>G
c.95010T>C (p.Thr31670=)
c.68904T>C (p.Thr22968=)
c.68763T>C (p.Thr22921=)
c.94806T>C (p.Thr31602=)
c.90204T>C (p.Thr30068=)
c.90201T>C (p.Thr30067=)
c.87243T>C (p.Thr29081=)
c.68859T>C (p.Thr22953=)
c.90354T>C (p.Thr30118=)
c.90351T>C (p.Thr30117=)
c.89784T>C (p.Thr29928=)
c.87126T>C (p.Thr29042=)
c.87045T>C (p.Thr29015=)
c.68808T>C (p.Thr22936=)
c.58662T>C (p.Thr19554=)
 dbSNP gnomAD v4
2g.178544316A>TCA430241700TTN,TTN-AS1c.88209T>A (p.Thr29403=)
c.69294T>A (p.Thr23098=)
c.69093T>A (p.Thr23031=)
c.68718T>A (p.Thr22906=)
c.95913T>A (p.Thr31971=)
c.90990T>A (p.Thr30330=)
n.446+20680A>T
n.2043+1955A>T
c.95010T>A (p.Thr31670=)
c.68904T>A (p.Thr22968=)
c.68763T>A (p.Thr22921=)
c.94806T>A (p.Thr31602=)
c.90204T>A (p.Thr30068=)
c.90201T>A (p.Thr30067=)
c.87243T>A (p.Thr29081=)
c.68859T>A (p.Thr22953=)
c.90354T>A (p.Thr30118=)
c.90351T>A (p.Thr30117=)
c.89784T>A (p.Thr29928=)
c.87126T>A (p.Thr29042=)
c.87045T>A (p.Thr29015=)
c.68808T>A (p.Thr22936=)
c.58662T>A (p.Thr19554=)
2g.178544317G>ACA349456081TTN,TTN-AS1c.88208C>T (p.Thr29403Ile)
c.69293C>T (p.Thr23098Ile)
c.69092C>T (p.Thr23031Ile)
c.68717C>T (p.Thr22906Ile)
c.95912C>T (p.Thr31971Ile)
c.90989C>T (p.Thr30330Ile)
n.446+20681G>A
n.2043+1956G>A
c.95009C>T (p.Thr31670Ile)
c.68903C>T (p.Thr22968Ile)
c.68762C>T (p.Thr22921Ile)
c.94805C>T (p.Thr31602Ile)
c.90203C>T (p.Thr30068Ile)
c.90200C>T (p.Thr30067Ile)
c.87242C>T (p.Thr29081Ile)
c.68858C>T (p.Thr22953Ile)
c.90353C>T (p.Thr30118Ile)
c.90350C>T (p.Thr30117Ile)
c.89783C>T (p.Thr29928Ile)
c.87125C>T (p.Thr29042Ile)
c.87044C>T (p.Thr29015Ile)
c.68807C>T (p.Thr22936Ile)
c.58661C>T (p.Thr19554Ile)
2g.178544317G>CCA349456083TTN,TTN-AS1c.88208C>G (p.Thr29403Ser)
c.69293C>G (p.Thr23098Ser)
c.69092C>G (p.Thr23031Ser)
c.68717C>G (p.Thr22906Ser)
c.95912C>G (p.Thr31971Ser)
c.90989C>G (p.Thr30330Ser)
n.446+20681G>C
n.2043+1956G>C
c.95009C>G (p.Thr31670Ser)
c.68903C>G (p.Thr22968Ser)
c.68762C>G (p.Thr22921Ser)
c.94805C>G (p.Thr31602Ser)
c.90203C>G (p.Thr30068Ser)
c.90200C>G (p.Thr30067Ser)
c.87242C>G (p.Thr29081Ser)
c.68858C>G (p.Thr22953Ser)
c.90353C>G (p.Thr30118Ser)
c.90350C>G (p.Thr30117Ser)
c.89783C>G (p.Thr29928Ser)
c.87125C>G (p.Thr29042Ser)
c.87044C>G (p.Thr29015Ser)
c.68807C>G (p.Thr22936Ser)
c.58661C>G (p.Thr19554Ser)
2g.178544317G>TCA349456084TTN,TTN-AS1c.88208C>A (p.Thr29403Asn)
c.69293C>A (p.Thr23098Asn)
c.69092C>A (p.Thr23031Asn)
c.68717C>A (p.Thr22906Asn)
c.95912C>A (p.Thr31971Asn)
c.90989C>A (p.Thr30330Asn)
n.446+20681G>T
n.2043+1956G>T
c.95009C>A (p.Thr31670Asn)
c.68903C>A (p.Thr22968Asn)
c.68762C>A (p.Thr22921Asn)
c.94805C>A (p.Thr31602Asn)
c.90203C>A (p.Thr30068Asn)
c.90200C>A (p.Thr30067Asn)
c.87242C>A (p.Thr29081Asn)
c.68858C>A (p.Thr22953Asn)
c.90353C>A (p.Thr30118Asn)
c.90350C>A (p.Thr30117Asn)
c.89783C>A (p.Thr29928Asn)
c.87125C>A (p.Thr29042Asn)
c.87044C>A (p.Thr29015Asn)
c.68807C>A (p.Thr22936Asn)
c.58661C>A (p.Thr19554Asn)
2g.178544318T>ACA349456088TTN,TTN-AS1c.88207A>T (p.Thr29403Ser)
c.69292A>T (p.Thr23098Ser)
c.69091A>T (p.Thr23031Ser)
c.68716A>T (p.Thr22906Ser)
c.95911A>T (p.Thr31971Ser)
c.90988A>T (p.Thr30330Ser)
n.446+20682T>A
n.2043+1957T>A
c.95008A>T (p.Thr31670Ser)
c.68902A>T (p.Thr22968Ser)
c.68761A>T (p.Thr22921Ser)
c.94804A>T (p.Thr31602Ser)
c.90202A>T (p.Thr30068Ser)
c.90199A>T (p.Thr30067Ser)
c.87241A>T (p.Thr29081Ser)
c.68857A>T (p.Thr22953Ser)
c.90352A>T (p.Thr30118Ser)
c.90349A>T (p.Thr30117Ser)
c.89782A>T (p.Thr29928Ser)
c.87124A>T (p.Thr29042Ser)
c.87043A>T (p.Thr29015Ser)
c.68806A>T (p.Thr22936Ser)
c.58660A>T (p.Thr19554Ser)
2g.178544318T>CCA349456090TTN,TTN-AS1c.88207A>G (p.Thr29403Ala)
c.69292A>G (p.Thr23098Ala)
c.69091A>G (p.Thr23031Ala)
c.68716A>G (p.Thr22906Ala)
c.95911A>G (p.Thr31971Ala)
c.90988A>G (p.Thr30330Ala)
n.446+20682T>C
n.2043+1957T>C
c.95008A>G (p.Thr31670Ala)
c.68902A>G (p.Thr22968Ala)
c.68761A>G (p.Thr22921Ala)
c.94804A>G (p.Thr31602Ala)
c.90202A>G (p.Thr30068Ala)
c.90199A>G (p.Thr30067Ala)
c.87241A>G (p.Thr29081Ala)
c.68857A>G (p.Thr22953Ala)
c.90352A>G (p.Thr30118Ala)
c.90349A>G (p.Thr30117Ala)
c.89782A>G (p.Thr29928Ala)
c.87124A>G (p.Thr29042Ala)
c.87043A>G (p.Thr29015Ala)
c.68806A>G (p.Thr22936Ala)
c.58660A>G (p.Thr19554Ala)
2g.178544318T>GCA349456103TTN,TTN-AS1c.88207A>C (p.Thr29403Pro)
c.69292A>C (p.Thr23098Pro)
c.69091A>C (p.Thr23031Pro)
c.68716A>C (p.Thr22906Pro)
c.95911A>C (p.Thr31971Pro)
c.90988A>C (p.Thr30330Pro)
n.446+20682T>G
n.2043+1957T>G
c.95008A>C (p.Thr31670Pro)
c.68902A>C (p.Thr22968Pro)
c.68761A>C (p.Thr22921Pro)
c.94804A>C (p.Thr31602Pro)
c.90202A>C (p.Thr30068Pro)
c.90199A>C (p.Thr30067Pro)
c.87241A>C (p.Thr29081Pro)
c.68857A>C (p.Thr22953Pro)
c.90352A>C (p.Thr30118Pro)
c.90349A>C (p.Thr30117Pro)
c.89782A>C (p.Thr29928Pro)
c.87124A>C (p.Thr29042Pro)
c.87043A>C (p.Thr29015Pro)
c.68806A>C (p.Thr22936Pro)
c.58660A>C (p.Thr19554Pro)
2g.178544319G>ACA430241707TTN,TTN-AS1c.88206C>T (p.Phe29402=)
c.69291C>T (p.Phe23097=)
c.69090C>T (p.Phe23030=)
c.68715C>T (p.Phe22905=)
c.95910C>T (p.Phe31970=)
c.90987C>T (p.Phe30329=)
n.446+20683G>A
n.2043+1958G>A
c.95007C>T (p.Phe31669=)
c.68901C>T (p.Phe22967=)
c.68760C>T (p.Phe22920=)
c.94803C>T (p.Phe31601=)
c.90201C>T (p.Phe30067=)
c.90198C>T (p.Phe30066=)
c.87240C>T (p.Phe29080=)
c.68856C>T (p.Phe22952=)
c.90351C>T (p.Phe30117=)
c.90348C>T (p.Phe30116=)
c.89781C>T (p.Phe29927=)
c.87123C>T (p.Phe29041=)
c.87042C>T (p.Phe29014=)
c.68805C>T (p.Phe22935=)
c.58659C>T (p.Phe19553=)
2g.178544319G>CCA349456105TTN,TTN-AS1c.88206C>G (p.Phe29402Leu)
c.69291C>G (p.Phe23097Leu)
c.69090C>G (p.Phe23030Leu)
c.68715C>G (p.Phe22905Leu)
c.95910C>G (p.Phe31970Leu)
c.90987C>G (p.Phe30329Leu)
n.446+20683G>C
n.2043+1958G>C
c.95007C>G (p.Phe31669Leu)
c.68901C>G (p.Phe22967Leu)
c.68760C>G (p.Phe22920Leu)
c.94803C>G (p.Phe31601Leu)
c.90201C>G (p.Phe30067Leu)
c.90198C>G (p.Phe30066Leu)
c.87240C>G (p.Phe29080Leu)
c.68856C>G (p.Phe22952Leu)
c.90351C>G (p.Phe30117Leu)
c.90348C>G (p.Phe30116Leu)
c.89781C>G (p.Phe29927Leu)
c.87123C>G (p.Phe29041Leu)
c.87042C>G (p.Phe29014Leu)
c.68805C>G (p.Phe22935Leu)
c.58659C>G (p.Phe19553Leu)
 gnomAD v4
2g.178544319G>TCA349456109TTN,TTN-AS1c.88206C>A (p.Phe29402Leu)
c.69291C>A (p.Phe23097Leu)
c.69090C>A (p.Phe23030Leu)
c.68715C>A (p.Phe22905Leu)
c.95910C>A (p.Phe31970Leu)
c.90987C>A (p.Phe30329Leu)
n.446+20683G>T
n.2043+1958G>T
c.95007C>A (p.Phe31669Leu)
c.68901C>A (p.Phe22967Leu)
c.68760C>A (p.Phe22920Leu)
c.94803C>A (p.Phe31601Leu)
c.90201C>A (p.Phe30067Leu)
c.90198C>A (p.Phe30066Leu)
c.87240C>A (p.Phe29080Leu)
c.68856C>A (p.Phe22952Leu)
c.90351C>A (p.Phe30117Leu)
c.90348C>A (p.Phe30116Leu)
c.89781C>A (p.Phe29927Leu)
c.87123C>A (p.Phe29041Leu)
c.87042C>A (p.Phe29014Leu)
c.68805C>A (p.Phe22935Leu)
c.58659C>A (p.Phe19553Leu)
2g.178544320A>CCA349456111TTN,TTN-AS1c.88205T>G (p.Phe29402Cys)
c.69290T>G (p.Phe23097Cys)
c.69089T>G (p.Phe23030Cys)
c.68714T>G (p.Phe22905Cys)
c.95909T>G (p.Phe31970Cys)
c.90986T>G (p.Phe30329Cys)
n.446+20684A>C
n.2043+1959A>C
c.95006T>G (p.Phe31669Cys)
c.68900T>G (p.Phe22967Cys)
c.68759T>G (p.Phe22920Cys)
c.94802T>G (p.Phe31601Cys)
c.90200T>G (p.Phe30067Cys)
c.90197T>G (p.Phe30066Cys)
c.87239T>G (p.Phe29080Cys)
c.68855T>G (p.Phe22952Cys)
c.90350T>G (p.Phe30117Cys)
c.90347T>G (p.Phe30116Cys)
c.89780T>G (p.Phe29927Cys)
c.87122T>G (p.Phe29041Cys)
c.87041T>G (p.Phe29014Cys)
c.68804T>G (p.Phe22935Cys)
c.58658T>G (p.Phe19553Cys)
2g.178544320A>GCA349456114TTN,TTN-AS1c.88205T>C (p.Phe29402Ser)
c.69290T>C (p.Phe23097Ser)
c.69089T>C (p.Phe23030Ser)
c.68714T>C (p.Phe22905Ser)
c.95909T>C (p.Phe31970Ser)
c.90986T>C (p.Phe30329Ser)
n.446+20684A>G
n.2043+1959A>G
c.95006T>C (p.Phe31669Ser)
c.68900T>C (p.Phe22967Ser)
c.68759T>C (p.Phe22920Ser)
c.94802T>C (p.Phe31601Ser)
c.90200T>C (p.Phe30067Ser)
c.90197T>C (p.Phe30066Ser)
c.87239T>C (p.Phe29080Ser)
c.68855T>C (p.Phe22952Ser)
c.90350T>C (p.Phe30117Ser)
c.90347T>C (p.Phe30116Ser)
c.89780T>C (p.Phe29927Ser)
c.87122T>C (p.Phe29041Ser)
c.87041T>C (p.Phe29014Ser)
c.68804T>C (p.Phe22935Ser)
c.58658T>C (p.Phe19553Ser)
2g.178544320A>TCA349456116TTN,TTN-AS1c.88205T>A (p.Phe29402Tyr)
c.69290T>A (p.Phe23097Tyr)
c.69089T>A (p.Phe23030Tyr)
c.68714T>A (p.Phe22905Tyr)
c.95909T>A (p.Phe31970Tyr)
c.90986T>A (p.Phe30329Tyr)
n.446+20684A>T
n.2043+1959A>T
c.95006T>A (p.Phe31669Tyr)
c.68900T>A (p.Phe22967Tyr)
c.68759T>A (p.Phe22920Tyr)
c.94802T>A (p.Phe31601Tyr)
c.90200T>A (p.Phe30067Tyr)
c.90197T>A (p.Phe30066Tyr)
c.87239T>A (p.Phe29080Tyr)
c.68855T>A (p.Phe22952Tyr)
c.90350T>A (p.Phe30117Tyr)
c.90347T>A (p.Phe30116Tyr)
c.89780T>A (p.Phe29927Tyr)
c.87122T>A (p.Phe29041Tyr)
c.87041T>A (p.Phe29014Tyr)
c.68804T>A (p.Phe22935Tyr)
c.58658T>A (p.Phe19553Tyr)
2g.178544321A>CCA349456127TTN,TTN-AS1c.88204T>G (p.Phe29402Val)
c.69289T>G (p.Phe23097Val)
c.69088T>G (p.Phe23030Val)
c.68713T>G (p.Phe22905Val)
c.95908T>G (p.Phe31970Val)
c.90985T>G (p.Phe30329Val)
n.446+20685A>C
n.2043+1960A>C
c.95005T>G (p.Phe31669Val)
c.68899T>G (p.Phe22967Val)
c.68758T>G (p.Phe22920Val)
c.94801T>G (p.Phe31601Val)
c.90199T>G (p.Phe30067Val)
c.90196T>G (p.Phe30066Val)
c.87238T>G (p.Phe29080Val)
c.68854T>G (p.Phe22952Val)
c.90349T>G (p.Phe30117Val)
c.90346T>G (p.Phe30116Val)
c.89779T>G (p.Phe29927Val)
c.87121T>G (p.Phe29041Val)
c.87040T>G (p.Phe29014Val)
c.68803T>G (p.Phe22935Val)
c.58657T>G (p.Phe19553Val)
2g.178544321A>GCA349456122TTN,TTN-AS1c.88204T>C (p.Phe29402Leu)
c.69289T>C (p.Phe23097Leu)
c.69088T>C (p.Phe23030Leu)
c.68713T>C (p.Phe22905Leu)
c.95908T>C (p.Phe31970Leu)
c.90985T>C (p.Phe30329Leu)
n.446+20685A>G
n.2043+1960A>G
c.95005T>C (p.Phe31669Leu)
c.68899T>C (p.Phe22967Leu)
c.68758T>C (p.Phe22920Leu)
c.94801T>C (p.Phe31601Leu)
c.90199T>C (p.Phe30067Leu)
c.90196T>C (p.Phe30066Leu)
c.87238T>C (p.Phe29080Leu)
c.68854T>C (p.Phe22952Leu)
c.90349T>C (p.Phe30117Leu)
c.90346T>C (p.Phe30116Leu)
c.89779T>C (p.Phe29927Leu)
c.87121T>C (p.Phe29041Leu)
c.87040T>C (p.Phe29014Leu)
c.68803T>C (p.Phe22935Leu)
c.58657T>C (p.Phe19553Leu)
2g.178544321A>TCA349456124TTN,TTN-AS1c.88204T>A (p.Phe29402Ile)
c.69289T>A (p.Phe23097Ile)
c.69088T>A (p.Phe23030Ile)
c.68713T>A (p.Phe22905Ile)
c.95908T>A (p.Phe31970Ile)
c.90985T>A (p.Phe30329Ile)
n.446+20685A>T
n.2043+1960A>T
c.95005T>A (p.Phe31669Ile)
c.68899T>A (p.Phe22967Ile)
c.68758T>A (p.Phe22920Ile)
c.94801T>A (p.Phe31601Ile)
c.90199T>A (p.Phe30067Ile)
c.90196T>A (p.Phe30066Ile)
c.87238T>A (p.Phe29080Ile)
c.68854T>A (p.Phe22952Ile)
c.90349T>A (p.Phe30117Ile)
c.90346T>A (p.Phe30116Ile)
c.89779T>A (p.Phe29927Ile)
c.87121T>A (p.Phe29041Ile)
c.87040T>A (p.Phe29014Ile)
c.68803T>A (p.Phe22935Ile)
c.58657T>A (p.Phe19553Ile)
2g.178544322T>ACA349456129TTN,TTN-AS1c.88203A>T (p.Glu29401Asp)
c.69288A>T (p.Glu23096Asp)
c.69087A>T (p.Glu23029Asp)
c.68712A>T (p.Glu22904Asp)
c.95907A>T (p.Glu31969Asp)
c.90984A>T (p.Glu30328Asp)
n.446+20686T>A
n.2043+1961T>A
c.95004A>T (p.Glu31668Asp)
c.68898A>T (p.Glu22966Asp)
c.68757A>T (p.Glu22919Asp)
c.94800A>T (p.Glu31600Asp)
c.90198A>T (p.Glu30066Asp)
c.90195A>T (p.Glu30065Asp)
c.87237A>T (p.Glu29079Asp)
c.68853A>T (p.Glu22951Asp)
c.90348A>T (p.Glu30116Asp)
c.90345A>T (p.Glu30115Asp)
c.89778A>T (p.Glu29926Asp)
c.87120A>T (p.Glu29040Asp)
c.87039A>T (p.Glu29013Asp)
c.68802A>T (p.Glu22934Asp)
c.58656A>T (p.Glu19552Asp)
2g.178544322T>CCA430241720TTN,TTN-AS1c.88203A>G (p.Glu29401=)
c.69288A>G (p.Glu23096=)
c.69087A>G (p.Glu23029=)
c.68712A>G (p.Glu22904=)
c.95907A>G (p.Glu31969=)
c.90984A>G (p.Glu30328=)
n.446+20686T>C
n.2043+1961T>C
c.95004A>G (p.Glu31668=)
c.68898A>G (p.Glu22966=)
c.68757A>G (p.Glu22919=)
c.94800A>G (p.Glu31600=)
c.90198A>G (p.Glu30066=)
c.90195A>G (p.Glu30065=)
c.87237A>G (p.Glu29079=)
c.68853A>G (p.Glu22951=)
c.90348A>G (p.Glu30116=)
c.90345A>G (p.Glu30115=)
c.89778A>G (p.Glu29926=)
c.87120A>G (p.Glu29040=)
c.87039A>G (p.Glu29013=)
c.68802A>G (p.Glu22934=)
c.58656A>G (p.Glu19552=)
2g.178544322T>GCA349456130TTN,TTN-AS1c.88203A>C (p.Glu29401Asp)
c.69288A>C (p.Glu23096Asp)
c.69087A>C (p.Glu23029Asp)
c.68712A>C (p.Glu22904Asp)
c.95907A>C (p.Glu31969Asp)
c.90984A>C (p.Glu30328Asp)
n.446+20686T>G
n.2043+1961T>G
c.95004A>C (p.Glu31668Asp)
c.68898A>C (p.Glu22966Asp)
c.68757A>C (p.Glu22919Asp)
c.94800A>C (p.Glu31600Asp)
c.90198A>C (p.Glu30066Asp)
c.90195A>C (p.Glu30065Asp)
c.87237A>C (p.Glu29079Asp)
c.68853A>C (p.Glu22951Asp)
c.90348A>C (p.Glu30116Asp)
c.90345A>C (p.Glu30115Asp)
c.89778A>C (p.Glu29926Asp)
c.87120A>C (p.Glu29040Asp)
c.87039A>C (p.Glu29013Asp)
c.68802A>C (p.Glu22934Asp)
c.58656A>C (p.Glu19552Asp)
2g.178544323T>ACA349456133TTN,TTN-AS1c.88202A>T (p.Glu29401Val)
c.69287A>T (p.Glu23096Val)
c.69086A>T (p.Glu23029Val)
c.68711A>T (p.Glu22904Val)
c.95906A>T (p.Glu31969Val)
c.90983A>T (p.Glu30328Val)
n.446+20687T>A
n.2043+1962T>A
c.95003A>T (p.Glu31668Val)
c.68897A>T (p.Glu22966Val)
c.68756A>T (p.Glu22919Val)
c.94799A>T (p.Glu31600Val)
c.90197A>T (p.Glu30066Val)
c.90194A>T (p.Glu30065Val)
c.87236A>T (p.Glu29079Val)
c.68852A>T (p.Glu22951Val)
c.90347A>T (p.Glu30116Val)
c.90344A>T (p.Glu30115Val)
c.89777A>T (p.Glu29926Val)
c.87119A>T (p.Glu29040Val)
c.87038A>T (p.Glu29013Val)
c.68801A>T (p.Glu22934Val)
c.58655A>T (p.Glu19552Val)
2g.178544323T>CCA349456139TTN,TTN-AS1c.88202A>G (p.Glu29401Gly)
c.69287A>G (p.Glu23096Gly)
c.69086A>G (p.Glu23029Gly)
c.68711A>G (p.Glu22904Gly)
c.95906A>G (p.Glu31969Gly)
c.90983A>G (p.Glu30328Gly)
n.446+20687T>C
n.2043+1962T>C
c.95003A>G (p.Glu31668Gly)
c.68897A>G (p.Glu22966Gly)
c.68756A>G (p.Glu22919Gly)
c.94799A>G (p.Glu31600Gly)
c.90197A>G (p.Glu30066Gly)
c.90194A>G (p.Glu30065Gly)
c.87236A>G (p.Glu29079Gly)
c.68852A>G (p.Glu22951Gly)
c.90347A>G (p.Glu30116Gly)
c.90344A>G (p.Glu30115Gly)
c.89777A>G (p.Glu29926Gly)
c.87119A>G (p.Glu29040Gly)
c.87038A>G (p.Glu29013Gly)
c.68801A>G (p.Glu22934Gly)
c.58655A>G (p.Glu19552Gly)
2g.178544323T>GCA349456141TTN,TTN-AS1c.88202A>C (p.Glu29401Ala)
c.69287A>C (p.Glu23096Ala)
c.69086A>C (p.Glu23029Ala)
c.68711A>C (p.Glu22904Ala)
c.95906A>C (p.Glu31969Ala)
c.90983A>C (p.Glu30328Ala)
n.446+20687T>G
n.2043+1962T>G
c.95003A>C (p.Glu31668Ala)
c.68897A>C (p.Glu22966Ala)
c.68756A>C (p.Glu22919Ala)
c.94799A>C (p.Glu31600Ala)
c.90197A>C (p.Glu30066Ala)
c.90194A>C (p.Glu30065Ala)
c.87236A>C (p.Glu29079Ala)
c.68852A>C (p.Glu22951Ala)
c.90347A>C (p.Glu30116Ala)
c.90344A>C (p.Glu30115Ala)
c.89777A>C (p.Glu29926Ala)
c.87119A>C (p.Glu29040Ala)
c.87038A>C (p.Glu29013Ala)
c.68801A>C (p.Glu22934Ala)
c.58655A>C (p.Glu19552Ala)
2g.178544324C>ACA349456142TTN,TTN-AS1c.88201G>T (p.Glu29401Ter)
c.69286G>T (p.Glu23096Ter)
c.69085G>T (p.Glu23029Ter)
c.68710G>T (p.Glu22904Ter)
c.95905G>T (p.Glu31969Ter)
c.90982G>T (p.Glu30328Ter)
n.446+20688C>A
n.2043+1963C>A
c.95002G>T (p.Glu31668Ter)
c.68896G>T (p.Glu22966Ter)
c.68755G>T (p.Glu22919Ter)
c.94798G>T (p.Glu31600Ter)
c.90196G>T (p.Glu30066Ter)
c.90193G>T (p.Glu30065Ter)
c.87235G>T (p.Glu29079Ter)
c.68851G>T (p.Glu22951Ter)
c.90346G>T (p.Glu30116Ter)
c.90343G>T (p.Glu30115Ter)
c.89776G>T (p.Glu29926Ter)
c.87118G>T (p.Glu29040Ter)
c.87037G>T (p.Glu29013Ter)
c.68800G>T (p.Glu22934Ter)
c.58654G>T (p.Glu19552Ter)
2g.178544324C>GCA349456145TTN,TTN-AS1c.88201G>C (p.Glu29401Gln)
c.69286G>C (p.Glu23096Gln)
c.69085G>C (p.Glu23029Gln)
c.68710G>C (p.Glu22904Gln)
c.95905G>C (p.Glu31969Gln)
c.90982G>C (p.Glu30328Gln)
n.446+20688C>G
n.2043+1963C>G
c.95002G>C (p.Glu31668Gln)
c.68896G>C (p.Glu22966Gln)
c.68755G>C (p.Glu22919Gln)
c.94798G>C (p.Glu31600Gln)
c.90196G>C (p.Glu30066Gln)
c.90193G>C (p.Glu30065Gln)
c.87235G>C (p.Glu29079Gln)
c.68851G>C (p.Glu22951Gln)
c.90346G>C (p.Glu30116Gln)
c.90343G>C (p.Glu30115Gln)
c.89776G>C (p.Glu29926Gln)
c.87118G>C (p.Glu29040Gln)
c.87037G>C (p.Glu29013Gln)
c.68800G>C (p.Glu22934Gln)
c.58654G>C (p.Glu19552Gln)
2g.178544324C>TCA349456147TTN,TTN-AS1c.88201G>A (p.Glu29401Lys)
c.69286G>A (p.Glu23096Lys)
c.69085G>A (p.Glu23029Lys)
c.68710G>A (p.Glu22904Lys)
c.95905G>A (p.Glu31969Lys)
c.90982G>A (p.Glu30328Lys)
n.446+20688C>T
n.2043+1963C>T
c.95002G>A (p.Glu31668Lys)
c.68896G>A (p.Glu22966Lys)
c.68755G>A (p.Glu22919Lys)
c.94798G>A (p.Glu31600Lys)
c.90196G>A (p.Glu30066Lys)
c.90193G>A (p.Glu30065Lys)
c.87235G>A (p.Glu29079Lys)
c.68851G>A (p.Glu22951Lys)
c.90346G>A (p.Glu30116Lys)
c.90343G>A (p.Glu30115Lys)
c.89776G>A (p.Glu29926Lys)
c.87118G>A (p.Glu29040Lys)
c.87037G>A (p.Glu29013Lys)
c.68800G>A (p.Glu22934Lys)
c.58654G>A (p.Glu19552Lys)
2g.178544325A>CCA430241726TTN,TTN-AS1c.88200T>G (p.Thr29400=)
c.69285T>G (p.Thr23095=)
c.69084T>G (p.Thr23028=)
c.68709T>G (p.Thr22903=)
c.95904T>G (p.Thr31968=)
c.90981T>G (p.Thr30327=)
n.446+20689A>C
n.2043+1964A>C
c.95001T>G (p.Thr31667=)
c.68895T>G (p.Thr22965=)
c.68754T>G (p.Thr22918=)
c.94797T>G (p.Thr31599=)
c.90195T>G (p.Thr30065=)
c.90192T>G (p.Thr30064=)
c.87234T>G (p.Thr29078=)
c.68850T>G (p.Thr22950=)
c.90345T>G (p.Thr30115=)
c.90342T>G (p.Thr30114=)
c.89775T>G (p.Thr29925=)
c.87117T>G (p.Thr29039=)
c.87036T>G (p.Thr29012=)
c.68799T>G (p.Thr22933=)
c.58653T>G (p.Thr19551=)
2g.178544325A>GCA430241727TTN,TTN-AS1c.88200T>C (p.Thr29400=)
c.69285T>C (p.Thr23095=)
c.69084T>C (p.Thr23028=)
c.68709T>C (p.Thr22903=)
c.95904T>C (p.Thr31968=)
c.90981T>C (p.Thr30327=)
n.446+20689A>G
n.2043+1964A>G
c.95001T>C (p.Thr31667=)
c.68895T>C (p.Thr22965=)
c.68754T>C (p.Thr22918=)
c.94797T>C (p.Thr31599=)
c.90195T>C (p.Thr30065=)
c.90192T>C (p.Thr30064=)
c.87234T>C (p.Thr29078=)
c.68850T>C (p.Thr22950=)
c.90345T>C (p.Thr30115=)
c.90342T>C (p.Thr30114=)
c.89775T>C (p.Thr29925=)
c.87117T>C (p.Thr29039=)
c.87036T>C (p.Thr29012=)
c.68799T>C (p.Thr22933=)
c.58653T>C (p.Thr19551=)
2g.178544325A>TCA430241728TTN,TTN-AS1c.88200T>A (p.Thr29400=)
c.69285T>A (p.Thr23095=)
c.69084T>A (p.Thr23028=)
c.68709T>A (p.Thr22903=)
c.95904T>A (p.Thr31968=)
c.90981T>A (p.Thr30327=)
n.446+20689A>T
n.2043+1964A>T
c.95001T>A (p.Thr31667=)
c.68895T>A (p.Thr22965=)
c.68754T>A (p.Thr22918=)
c.94797T>A (p.Thr31599=)
c.90195T>A (p.Thr30065=)
c.90192T>A (p.Thr30064=)
c.87234T>A (p.Thr29078=)
c.68850T>A (p.Thr22950=)
c.90345T>A (p.Thr30115=)
c.90342T>A (p.Thr30114=)
c.89775T>A (p.Thr29925=)
c.87117T>A (p.Thr29039=)
c.87036T>A (p.Thr29012=)
c.68799T>A (p.Thr22933=)
c.58653T>A (p.Thr19551=)
2g.178544326G>ACA349456149TTN,TTN-AS1c.88199C>T (p.Thr29400Ile)
c.69284C>T (p.Thr23095Ile)
c.69083C>T (p.Thr23028Ile)
c.68708C>T (p.Thr22903Ile)
c.95903C>T (p.Thr31968Ile)
c.90980C>T (p.Thr30327Ile)
n.446+20690G>A
n.2043+1965G>A
c.95000C>T (p.Thr31667Ile)
c.68894C>T (p.Thr22965Ile)
c.68753C>T (p.Thr22918Ile)
c.94796C>T (p.Thr31599Ile)
c.90194C>T (p.Thr30065Ile)
c.90191C>T (p.Thr30064Ile)
c.87233C>T (p.Thr29078Ile)
c.68849C>T (p.Thr22950Ile)
c.90344C>T (p.Thr30115Ile)
c.90341C>T (p.Thr30114Ile)
c.89774C>T (p.Thr29925Ile)
c.87116C>T (p.Thr29039Ile)
c.87035C>T (p.Thr29012Ile)
c.68798C>T (p.Thr22933Ile)
c.58652C>T (p.Thr19551Ile)
 gnomAD v4
2g.178544326G>CCA349456152TTN,TTN-AS1c.88199C>G (p.Thr29400Ser)
c.69284C>G (p.Thr23095Ser)
c.69083C>G (p.Thr23028Ser)
c.68708C>G (p.Thr22903Ser)
c.95903C>G (p.Thr31968Ser)
c.90980C>G (p.Thr30327Ser)
n.446+20690G>C
n.2043+1965G>C
c.95000C>G (p.Thr31667Ser)
c.68894C>G (p.Thr22965Ser)
c.68753C>G (p.Thr22918Ser)
c.94796C>G (p.Thr31599Ser)
c.90194C>G (p.Thr30065Ser)
c.90191C>G (p.Thr30064Ser)
c.87233C>G (p.Thr29078Ser)
c.68849C>G (p.Thr22950Ser)
c.90344C>G (p.Thr30115Ser)
c.90341C>G (p.Thr30114Ser)
c.89774C>G (p.Thr29925Ser)
c.87116C>G (p.Thr29039Ser)
c.87035C>G (p.Thr29012Ser)
c.68798C>G (p.Thr22933Ser)
c.58652C>G (p.Thr19551Ser)
2g.178544326G=CA1310521511TTN,TTN-AS1c.88199C= (p.Thr29400=)
c.69284C= (p.Thr23095=)
c.69083C= (p.Thr23028=)
c.68708C= (p.Thr22903=)
c.95903C= (p.Thr31968=)
c.90980C= (p.Thr30327=)
n.446+20690G=
n.2043+1965G=
c.95000C= (p.Thr31667=)
c.68894C= (p.Thr22965=)
c.68753C= (p.Thr22918=)
c.94796C= (p.Thr31599=)
c.90194C= (p.Thr30065=)
c.90191C= (p.Thr30064=)
c.87233C= (p.Thr29078=)
c.68849C= (p.Thr22950=)
c.90344C= (p.Thr30115=)
c.90341C= (p.Thr30114=)
c.89774C= (p.Thr29925=)
c.87116C= (p.Thr29039=)
c.87035C= (p.Thr29012=)
c.68798C= (p.Thr22933=)
c.58652C= (p.Thr19551=)
2g.178544326G>TCA349456155TTN,TTN-AS1c.88199C>A (p.Thr29400Asn)
c.69284C>A (p.Thr23095Asn)
c.69083C>A (p.Thr23028Asn)
c.68708C>A (p.Thr22903Asn)
c.95903C>A (p.Thr31968Asn)
c.90980C>A (p.Thr30327Asn)
n.446+20690G>T
n.2043+1965G>T
c.95000C>A (p.Thr31667Asn)
c.68894C>A (p.Thr22965Asn)
c.68753C>A (p.Thr22918Asn)
c.94796C>A (p.Thr31599Asn)
c.90194C>A (p.Thr30065Asn)
c.90191C>A (p.Thr30064Asn)
c.87233C>A (p.Thr29078Asn)
c.68849C>A (p.Thr22950Asn)
c.90344C>A (p.Thr30115Asn)
c.90341C>A (p.Thr30114Asn)
c.89774C>A (p.Thr29925Asn)
c.87116C>A (p.Thr29039Asn)
c.87035C>A (p.Thr29012Asn)
c.68798C>A (p.Thr22933Asn)
c.58652C>A (p.Thr19551Asn)
 dbSNP gnomAD v3 gnomAD v4
2g.178544327T>ACA349456170TTN,TTN-AS1c.88198A>T (p.Thr29400Ser)
c.69283A>T (p.Thr23095Ser)
c.69082A>T (p.Thr23028Ser)
c.68707A>T (p.Thr22903Ser)
c.95902A>T (p.Thr31968Ser)
c.90979A>T (p.Thr30327Ser)
n.446+20691T>A
n.2043+1966T>A
c.94999A>T (p.Thr31667Ser)
c.68893A>T (p.Thr22965Ser)
c.68752A>T (p.Thr22918Ser)
c.94795A>T (p.Thr31599Ser)
c.90193A>T (p.Thr30065Ser)
c.90190A>T (p.Thr30064Ser)
c.87232A>T (p.Thr29078Ser)
c.68848A>T (p.Thr22950Ser)
c.90343A>T (p.Thr30115Ser)
c.90340A>T (p.Thr30114Ser)
c.89773A>T (p.Thr29925Ser)
c.87115A>T (p.Thr29039Ser)
c.87034A>T (p.Thr29012Ser)
c.68797A>T (p.Thr22933Ser)
c.58651A>T (p.Thr19551Ser)
2g.178544327T>CCA349456165TTN,TTN-AS1c.88198A>G (p.Thr29400Ala)
c.69283A>G (p.Thr23095Ala)
c.69082A>G (p.Thr23028Ala)
c.68707A>G (p.Thr22903Ala)
c.95902A>G (p.Thr31968Ala)
c.90979A>G (p.Thr30327Ala)
n.446+20691T>C
n.2043+1966T>C
c.94999A>G (p.Thr31667Ala)
c.68893A>G (p.Thr22965Ala)
c.68752A>G (p.Thr22918Ala)
c.94795A>G (p.Thr31599Ala)
c.90193A>G (p.Thr30065Ala)
c.90190A>G (p.Thr30064Ala)
c.87232A>G (p.Thr29078Ala)
c.68848A>G (p.Thr22950Ala)
c.90343A>G (p.Thr30115Ala)
c.90340A>G (p.Thr30114Ala)
c.89773A>G (p.Thr29925Ala)
c.87115A>G (p.Thr29039Ala)
c.87034A>G (p.Thr29012Ala)
c.68797A>G (p.Thr22933Ala)
c.58651A>G (p.Thr19551Ala)
2g.178544327T>GCA349456162TTN,TTN-AS1c.88198A>C (p.Thr29400Pro)
c.69283A>C (p.Thr23095Pro)
c.69082A>C (p.Thr23028Pro)
c.68707A>C (p.Thr22903Pro)
c.95902A>C (p.Thr31968Pro)
c.90979A>C (p.Thr30327Pro)
n.446+20691T>G
n.2043+1966T>G
c.94999A>C (p.Thr31667Pro)
c.68893A>C (p.Thr22965Pro)
c.68752A>C (p.Thr22918Pro)
c.94795A>C (p.Thr31599Pro)
c.90193A>C (p.Thr30065Pro)
c.90190A>C (p.Thr30064Pro)
c.87232A>C (p.Thr29078Pro)
c.68848A>C (p.Thr22950Pro)
c.90343A>C (p.Thr30115Pro)
c.90340A>C (p.Thr30114Pro)
c.89773A>C (p.Thr29925Pro)
c.87115A>C (p.Thr29039Pro)
c.87034A>C (p.Thr29012Pro)
c.68797A>C (p.Thr22933Pro)
c.58651A>C (p.Thr19551Pro)
2g.178544328A>CCA349456176TTN,TTN-AS1c.88197T>G (p.Asn29399Lys)
c.69282T>G (p.Asn23094Lys)
c.69081T>G (p.Asn23027Lys)
c.68706T>G (p.Asn22902Lys)
c.95901T>G (p.Asn31967Lys)
c.90978T>G (p.Asn30326Lys)
n.446+20692A>C
n.2043+1967A>C
c.94998T>G (p.Asn31666Lys)
c.68892T>G (p.Asn22964Lys)
c.68751T>G (p.Asn22917Lys)
c.94794T>G (p.Asn31598Lys)
c.90192T>G (p.Asn30064Lys)
c.90189T>G (p.Asn30063Lys)
c.87231T>G (p.Asn29077Lys)
c.68847T>G (p.Asn22949Lys)
c.90342T>G (p.Asn30114Lys)
c.90339T>G (p.Asn30113Lys)
c.89772T>G (p.Asn29924Lys)
c.87114T>G (p.Asn29038Lys)
c.87033T>G (p.Asn29011Lys)
c.68796T>G (p.Asn22932Lys)
c.58650T>G (p.Asn19550Lys)
2g.178544328A>GCA430241738TTN,TTN-AS1c.88197T>C (p.Asn29399=)
c.69282T>C (p.Asn23094=)
c.69081T>C (p.Asn23027=)
c.68706T>C (p.Asn22902=)
c.95901T>C (p.Asn31967=)
c.90978T>C (p.Asn30326=)
n.446+20692A>G
n.2043+1967A>G
c.94998T>C (p.Asn31666=)
c.68892T>C (p.Asn22964=)
c.68751T>C (p.Asn22917=)
c.94794T>C (p.Asn31598=)
c.90192T>C (p.Asn30064=)
c.90189T>C (p.Asn30063=)
c.87231T>C (p.Asn29077=)
c.68847T>C (p.Asn22949=)
c.90342T>C (p.Asn30114=)
c.90339T>C (p.Asn30113=)
c.89772T>C (p.Asn29924=)
c.87114T>C (p.Asn29038=)
c.87033T>C (p.Asn29011=)
c.68796T>C (p.Asn22932=)
c.58650T>C (p.Asn19550=)
2g.178544328A>TCA349456173TTN,TTN-AS1c.88197T>A (p.Asn29399Lys)
c.69282T>A (p.Asn23094Lys)
c.69081T>A (p.Asn23027Lys)
c.68706T>A (p.Asn22902Lys)
c.95901T>A (p.Asn31967Lys)
c.90978T>A (p.Asn30326Lys)
n.446+20692A>T
n.2043+1967A>T
c.94998T>A (p.Asn31666Lys)
c.68892T>A (p.Asn22964Lys)
c.68751T>A (p.Asn22917Lys)
c.94794T>A (p.Asn31598Lys)
c.90192T>A (p.Asn30064Lys)
c.90189T>A (p.Asn30063Lys)
c.87231T>A (p.Asn29077Lys)
c.68847T>A (p.Asn22949Lys)
c.90342T>A (p.Asn30114Lys)
c.90339T>A (p.Asn30113Lys)
c.89772T>A (p.Asn29924Lys)
c.87114T>A (p.Asn29038Lys)
c.87033T>A (p.Asn29011Lys)
c.68796T>A (p.Asn22932Lys)
c.58650T>A (p.Asn19550Lys)
2g.178544329T>ACA349456180TTN,TTN-AS1c.88196A>T (p.Asn29399Ile)
c.69281A>T (p.Asn23094Ile)
c.69080A>T (p.Asn23027Ile)
c.68705A>T (p.Asn22902Ile)
c.95900A>T (p.Asn31967Ile)
c.90977A>T (p.Asn30326Ile)
n.446+20693T>A
n.2043+1968T>A
c.94997A>T (p.Asn31666Ile)
c.68891A>T (p.Asn22964Ile)
c.68750A>T (p.Asn22917Ile)
c.94793A>T (p.Asn31598Ile)
c.90191A>T (p.Asn30064Ile)
c.90188A>T (p.Asn30063Ile)
c.87230A>T (p.Asn29077Ile)
c.68846A>T (p.Asn22949Ile)
c.90341A>T (p.Asn30114Ile)
c.90338A>T (p.Asn30113Ile)
c.89771A>T (p.Asn29924Ile)
c.87113A>T (p.Asn29038Ile)
c.87032A>T (p.Asn29011Ile)
c.68795A>T (p.Asn22932Ile)
c.58649A>T (p.Asn19550Ile)

Number of alleles fetched