Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.178560066_178564516delCA915942193TTN,TTN-AS1c.73914_78364del (p.Val24639GlnfsTer4)
c.54999_59449del (p.Val18334GlnfsTer4)
c.54798_59248del (p.Val18267GlnfsTer4)
c.54423_58873del (p.Val18142GlnfsTer4)
c.81618_86068del (p.Val27207GlnfsTer4)
c.76695_81145del (p.Val25566GlnfsTer4)
n.447-11234_447-6784del
n.2043+17705_2044-18056del
c.80715_85165del (p.Val26906GlnfsTer4)
c.54609_59059del (p.Val18204GlnfsTer4)
c.54468_58918del (p.Val18157GlnfsTer4)
c.80511_84961del (p.Val26838GlnfsTer4)
c.75909_80359del (p.Val25304GlnfsTer4)
c.75906_80356del (p.Val25303GlnfsTer4)
c.72948_77398del (p.Val24317GlnfsTer4)
c.54564_59014del (p.Val18189GlnfsTer4)
c.76059_80509del (p.Val25354GlnfsTer4)
c.76056_80506del (p.Val25353GlnfsTer4)
c.75489_79939del (p.Val25164GlnfsTer4)
c.72831_77281del (p.Val24278GlnfsTer4)
c.72750_77200del (p.Val24251GlnfsTer4)
c.54513_58963del (p.Val18172GlnfsTer4)
c.44367_48817del (p.Val14790GlnfsTer4)
 ClinVar
2g.178562305C>ACA349564212TTN,TTN-AS1c.76123G>T (p.Gly25375Ter)
c.57208G>T (p.Gly19070Ter)
c.57007G>T (p.Gly19003Ter)
c.56632G>T (p.Gly18878Ter)
c.83827G>T (p.Gly27943Ter)
c.78904G>T (p.Gly26302Ter)
n.447-8995C>A
n.2043+19944C>A
c.82924G>T (p.Gly27642Ter)
c.56818G>T (p.Gly18940Ter)
c.56677G>T (p.Gly18893Ter)
c.82720G>T (p.Gly27574Ter)
c.78118G>T (p.Gly26040Ter)
c.78115G>T (p.Gly26039Ter)
c.75157G>T (p.Gly25053Ter)
c.56773G>T (p.Gly18925Ter)
c.78268G>T (p.Gly26090Ter)
c.78265G>T (p.Gly26089Ter)
c.77698G>T (p.Gly25900Ter)
c.75040G>T (p.Gly25014Ter)
c.74959G>T (p.Gly24987Ter)
c.56722G>T (p.Gly18908Ter)
c.46576G>T (p.Gly15526Ter)
2g.178562305C=CA1310527803TTN,TTN-AS1c.76123G= (p.Gly25375=)
c.57208G= (p.Gly19070=)
c.57007G= (p.Gly19003=)
c.56632G= (p.Gly18878=)
c.83827G= (p.Gly27943=)
c.78904G= (p.Gly26302=)
n.447-8995C=
n.2043+19944C=
c.82924G= (p.Gly27642=)
c.56818G= (p.Gly18940=)
c.56677G= (p.Gly18893=)
c.82720G= (p.Gly27574=)
c.78118G= (p.Gly26040=)
c.78115G= (p.Gly26039=)
c.75157G= (p.Gly25053=)
c.56773G= (p.Gly18925=)
c.78268G= (p.Gly26090=)
c.78265G= (p.Gly26089=)
c.77698G= (p.Gly25900=)
c.75040G= (p.Gly25014=)
c.74959G= (p.Gly24987=)
c.56722G= (p.Gly18908=)
c.46576G= (p.Gly15526=)
2g.178562305C>GCA349564215TTN,TTN-AS1c.76123G>C (p.Gly25375Arg)
c.57208G>C (p.Gly19070Arg)
c.57007G>C (p.Gly19003Arg)
c.56632G>C (p.Gly18878Arg)
c.83827G>C (p.Gly27943Arg)
c.78904G>C (p.Gly26302Arg)
n.447-8995C>G
n.2043+19944C>G
c.82924G>C (p.Gly27642Arg)
c.56818G>C (p.Gly18940Arg)
c.56677G>C (p.Gly18893Arg)
c.82720G>C (p.Gly27574Arg)
c.78118G>C (p.Gly26040Arg)
c.78115G>C (p.Gly26039Arg)
c.75157G>C (p.Gly25053Arg)
c.56773G>C (p.Gly18925Arg)
c.78268G>C (p.Gly26090Arg)
c.78265G>C (p.Gly26089Arg)
c.77698G>C (p.Gly25900Arg)
c.75040G>C (p.Gly25014Arg)
c.74959G>C (p.Gly24987Arg)
c.56722G>C (p.Gly18908Arg)
c.46576G>C (p.Gly15526Arg)
 dbSNP gnomAD v2 gnomAD v4
2g.178562305C>TCA10611610TTN,TTN-AS1c.76123G>A (p.Gly25375Arg)
c.57208G>A (p.Gly19070Arg)
c.57007G>A (p.Gly19003Arg)
c.56632G>A (p.Gly18878Arg)
c.83827G>A (p.Gly27943Arg)
c.78904G>A (p.Gly26302Arg)
n.447-8995C>T
n.2043+19944C>T
c.82924G>A (p.Gly27642Arg)
c.56818G>A (p.Gly18940Arg)
c.56677G>A (p.Gly18893Arg)
c.82720G>A (p.Gly27574Arg)
c.78118G>A (p.Gly26040Arg)
c.78115G>A (p.Gly26039Arg)
c.75157G>A (p.Gly25053Arg)
c.56773G>A (p.Gly18925Arg)
c.78268G>A (p.Gly26090Arg)
c.78265G>A (p.Gly26089Arg)
c.77698G>A (p.Gly25900Arg)
c.75040G>A (p.Gly25014Arg)
c.74959G>A (p.Gly24987Arg)
c.56722G>A (p.Gly18908Arg)
c.46576G>A (p.Gly15526Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
2g.178562306C>ACA349564217TTN,TTN-AS1c.76122G>T (p.Lys25374Asn)
c.57207G>T (p.Lys19069Asn)
c.57006G>T (p.Lys19002Asn)
c.56631G>T (p.Lys18877Asn)
c.83826G>T (p.Lys27942Asn)
c.78903G>T (p.Lys26301Asn)
n.447-8994C>A
n.2043+19945C>A
c.82923G>T (p.Lys27641Asn)
c.56817G>T (p.Lys18939Asn)
c.56676G>T (p.Lys18892Asn)
c.82719G>T (p.Lys27573Asn)
c.78117G>T (p.Lys26039Asn)
c.78114G>T (p.Lys26038Asn)
c.75156G>T (p.Lys25052Asn)
c.56772G>T (p.Lys18924Asn)
c.78267G>T (p.Lys26089Asn)
c.78264G>T (p.Lys26088Asn)
c.77697G>T (p.Lys25899Asn)
c.75039G>T (p.Lys25013Asn)
c.74958G>T (p.Lys24986Asn)
c.56721G>T (p.Lys18907Asn)
c.46575G>T (p.Lys15525Asn)
2g.178562306C>GCA349564219TTN,TTN-AS1c.76122G>C (p.Lys25374Asn)
c.57207G>C (p.Lys19069Asn)
c.57006G>C (p.Lys19002Asn)
c.56631G>C (p.Lys18877Asn)
c.83826G>C (p.Lys27942Asn)
c.78903G>C (p.Lys26301Asn)
n.447-8994C>G
n.2043+19945C>G
c.82923G>C (p.Lys27641Asn)
c.56817G>C (p.Lys18939Asn)
c.56676G>C (p.Lys18892Asn)
c.82719G>C (p.Lys27573Asn)
c.78117G>C (p.Lys26039Asn)
c.78114G>C (p.Lys26038Asn)
c.75156G>C (p.Lys25052Asn)
c.56772G>C (p.Lys18924Asn)
c.78267G>C (p.Lys26089Asn)
c.78264G>C (p.Lys26088Asn)
c.77697G>C (p.Lys25899Asn)
c.75039G>C (p.Lys25013Asn)
c.74958G>C (p.Lys24986Asn)
c.56721G>C (p.Lys18907Asn)
c.46575G>C (p.Lys15525Asn)
2g.178562306C>TCA430249651TTN,TTN-AS1c.76122G>A (p.Lys25374=)
c.57207G>A (p.Lys19069=)
c.57006G>A (p.Lys19002=)
c.56631G>A (p.Lys18877=)
c.83826G>A (p.Lys27942=)
c.78903G>A (p.Lys26301=)
n.447-8994C>T
n.2043+19945C>T
c.82923G>A (p.Lys27641=)
c.56817G>A (p.Lys18939=)
c.56676G>A (p.Lys18892=)
c.82719G>A (p.Lys27573=)
c.78117G>A (p.Lys26039=)
c.78114G>A (p.Lys26038=)
c.75156G>A (p.Lys25052=)
c.56772G>A (p.Lys18924=)
c.78267G>A (p.Lys26089=)
c.78264G>A (p.Lys26088=)
c.77697G>A (p.Lys25899=)
c.75039G>A (p.Lys25013=)
c.74958G>A (p.Lys24986=)
c.56721G>A (p.Lys18907=)
c.46575G>A (p.Lys15525=)
2g.178562307T>ACA349564225TTN,TTN-AS1c.76121A>T (p.Lys25374Met)
c.57206A>T (p.Lys19069Met)
c.57005A>T (p.Lys19002Met)
c.56630A>T (p.Lys18877Met)
c.83825A>T (p.Lys27942Met)
c.78902A>T (p.Lys26301Met)
n.447-8993T>A
n.2043+19946T>A
c.82922A>T (p.Lys27641Met)
c.56816A>T (p.Lys18939Met)
c.56675A>T (p.Lys18892Met)
c.82718A>T (p.Lys27573Met)
c.78116A>T (p.Lys26039Met)
c.78113A>T (p.Lys26038Met)
c.75155A>T (p.Lys25052Met)
c.56771A>T (p.Lys18924Met)
c.78266A>T (p.Lys26089Met)
c.78263A>T (p.Lys26088Met)
c.77696A>T (p.Lys25899Met)
c.75038A>T (p.Lys25013Met)
c.74957A>T (p.Lys24986Met)
c.56720A>T (p.Lys18907Met)
c.46574A>T (p.Lys15525Met)
2g.178562307T>CCA349564224TTN,TTN-AS1c.76121A>G (p.Lys25374Arg)
c.57206A>G (p.Lys19069Arg)
c.57005A>G (p.Lys19002Arg)
c.56630A>G (p.Lys18877Arg)
c.83825A>G (p.Lys27942Arg)
c.78902A>G (p.Lys26301Arg)
n.447-8993T>C
n.2043+19946T>C
c.82922A>G (p.Lys27641Arg)
c.56816A>G (p.Lys18939Arg)
c.56675A>G (p.Lys18892Arg)
c.82718A>G (p.Lys27573Arg)
c.78116A>G (p.Lys26039Arg)
c.78113A>G (p.Lys26038Arg)
c.75155A>G (p.Lys25052Arg)
c.56771A>G (p.Lys18924Arg)
c.78266A>G (p.Lys26089Arg)
c.78263A>G (p.Lys26088Arg)
c.77696A>G (p.Lys25899Arg)
c.75038A>G (p.Lys25013Arg)
c.74957A>G (p.Lys24986Arg)
c.56720A>G (p.Lys18907Arg)
c.46574A>G (p.Lys15525Arg)
 gnomAD v4
2g.178562307T>GCA349564222TTN,TTN-AS1c.76121A>C (p.Lys25374Thr)
c.57206A>C (p.Lys19069Thr)
c.57005A>C (p.Lys19002Thr)
c.56630A>C (p.Lys18877Thr)
c.83825A>C (p.Lys27942Thr)
c.78902A>C (p.Lys26301Thr)
n.447-8993T>G
n.2043+19946T>G
c.82922A>C (p.Lys27641Thr)
c.56816A>C (p.Lys18939Thr)
c.56675A>C (p.Lys18892Thr)
c.82718A>C (p.Lys27573Thr)
c.78116A>C (p.Lys26039Thr)
c.78113A>C (p.Lys26038Thr)
c.75155A>C (p.Lys25052Thr)
c.56771A>C (p.Lys18924Thr)
c.78266A>C (p.Lys26089Thr)
c.78263A>C (p.Lys26088Thr)
c.77696A>C (p.Lys25899Thr)
c.75038A>C (p.Lys25013Thr)
c.74957A>C (p.Lys24986Thr)
c.56720A>C (p.Lys18907Thr)
c.46574A>C (p.Lys15525Thr)
 dbSNP gnomAD v3 gnomAD v4
2g.178562307T=CA1310527804TTN,TTN-AS1c.76121A= (p.Lys25374=)
c.57206A= (p.Lys19069=)
c.57005A= (p.Lys19002=)
c.56630A= (p.Lys18877=)
c.83825A= (p.Lys27942=)
c.78902A= (p.Lys26301=)
n.447-8993T=
n.2043+19946T=
c.82922A= (p.Lys27641=)
c.56816A= (p.Lys18939=)
c.56675A= (p.Lys18892=)
c.82718A= (p.Lys27573=)
c.78116A= (p.Lys26039=)
c.78113A= (p.Lys26038=)
c.75155A= (p.Lys25052=)
c.56771A= (p.Lys18924=)
c.78266A= (p.Lys26089=)
c.78263A= (p.Lys26088=)
c.77696A= (p.Lys25899=)
c.75038A= (p.Lys25013=)
c.74957A= (p.Lys24986=)
c.56720A= (p.Lys18907=)
c.46574A= (p.Lys15525=)
2g.178562308T>ACA349564229TTN,TTN-AS1c.76120A>T (p.Lys25374Ter)
c.57205A>T (p.Lys19069Ter)
c.57004A>T (p.Lys19002Ter)
c.56629A>T (p.Lys18877Ter)
c.83824A>T (p.Lys27942Ter)
c.78901A>T (p.Lys26301Ter)
n.447-8992T>A
n.2043+19947T>A
c.82921A>T (p.Lys27641Ter)
c.56815A>T (p.Lys18939Ter)
c.56674A>T (p.Lys18892Ter)
c.82717A>T (p.Lys27573Ter)
c.78115A>T (p.Lys26039Ter)
c.78112A>T (p.Lys26038Ter)
c.75154A>T (p.Lys25052Ter)
c.56770A>T (p.Lys18924Ter)
c.78265A>T (p.Lys26089Ter)
c.78262A>T (p.Lys26088Ter)
c.77695A>T (p.Lys25899Ter)
c.75037A>T (p.Lys25013Ter)
c.74956A>T (p.Lys24986Ter)
c.56719A>T (p.Lys18907Ter)
c.46573A>T (p.Lys15525Ter)
2g.178562308T>CCA349564231TTN,TTN-AS1c.76120A>G (p.Lys25374Glu)
c.57205A>G (p.Lys19069Glu)
c.57004A>G (p.Lys19002Glu)
c.56629A>G (p.Lys18877Glu)
c.83824A>G (p.Lys27942Glu)
c.78901A>G (p.Lys26301Glu)
n.447-8992T>C
n.2043+19947T>C
c.82921A>G (p.Lys27641Glu)
c.56815A>G (p.Lys18939Glu)
c.56674A>G (p.Lys18892Glu)
c.82717A>G (p.Lys27573Glu)
c.78115A>G (p.Lys26039Glu)
c.78112A>G (p.Lys26038Glu)
c.75154A>G (p.Lys25052Glu)
c.56770A>G (p.Lys18924Glu)
c.78265A>G (p.Lys26089Glu)
c.78262A>G (p.Lys26088Glu)
c.77695A>G (p.Lys25899Glu)
c.75037A>G (p.Lys25013Glu)
c.74956A>G (p.Lys24986Glu)
c.56719A>G (p.Lys18907Glu)
c.46573A>G (p.Lys15525Glu)
2g.178562308T>GCA349564232TTN,TTN-AS1c.76120A>C (p.Lys25374Gln)
c.57205A>C (p.Lys19069Gln)
c.57004A>C (p.Lys19002Gln)
c.56629A>C (p.Lys18877Gln)
c.83824A>C (p.Lys27942Gln)
c.78901A>C (p.Lys26301Gln)
n.447-8992T>G
n.2043+19947T>G
c.82921A>C (p.Lys27641Gln)
c.56815A>C (p.Lys18939Gln)
c.56674A>C (p.Lys18892Gln)
c.82717A>C (p.Lys27573Gln)
c.78115A>C (p.Lys26039Gln)
c.78112A>C (p.Lys26038Gln)
c.75154A>C (p.Lys25052Gln)
c.56770A>C (p.Lys18924Gln)
c.78265A>C (p.Lys26089Gln)
c.78262A>C (p.Lys26088Gln)
c.77695A>C (p.Lys25899Gln)
c.75037A>C (p.Lys25013Gln)
c.74956A>C (p.Lys24986Gln)
c.56719A>C (p.Lys18907Gln)
c.46573A>C (p.Lys15525Gln)
2g.178562309T>ACA349564234TTN,TTN-AS1c.76119A>T (p.Glu25373Asp)
c.57204A>T (p.Glu19068Asp)
c.57003A>T (p.Glu19001Asp)
c.56628A>T (p.Glu18876Asp)
c.83823A>T (p.Glu27941Asp)
c.78900A>T (p.Glu26300Asp)
n.447-8991T>A
n.2043+19948T>A
c.82920A>T (p.Glu27640Asp)
c.56814A>T (p.Glu18938Asp)
c.56673A>T (p.Glu18891Asp)
c.82716A>T (p.Glu27572Asp)
c.78114A>T (p.Glu26038Asp)
c.78111A>T (p.Glu26037Asp)
c.75153A>T (p.Glu25051Asp)
c.56769A>T (p.Glu18923Asp)
c.78264A>T (p.Glu26088Asp)
c.78261A>T (p.Glu26087Asp)
c.77694A>T (p.Glu25898Asp)
c.75036A>T (p.Glu25012Asp)
c.74955A>T (p.Glu24985Asp)
c.56718A>T (p.Glu18906Asp)
c.46572A>T (p.Glu15524Asp)
2g.178562309T>CCA430249652TTN,TTN-AS1c.76119A>G (p.Glu25373=)
c.57204A>G (p.Glu19068=)
c.57003A>G (p.Glu19001=)
c.56628A>G (p.Glu18876=)
c.83823A>G (p.Glu27941=)
c.78900A>G (p.Glu26300=)
n.447-8991T>C
n.2043+19948T>C
c.82920A>G (p.Glu27640=)
c.56814A>G (p.Glu18938=)
c.56673A>G (p.Glu18891=)
c.82716A>G (p.Glu27572=)
c.78114A>G (p.Glu26038=)
c.78111A>G (p.Glu26037=)
c.75153A>G (p.Glu25051=)
c.56769A>G (p.Glu18923=)
c.78264A>G (p.Glu26088=)
c.78261A>G (p.Glu26087=)
c.77694A>G (p.Glu25898=)
c.75036A>G (p.Glu25012=)
c.74955A>G (p.Glu24985=)
c.56718A>G (p.Glu18906=)
c.46572A>G (p.Glu15524=)
2g.178562309T>GCA349564237TTN,TTN-AS1c.76119A>C (p.Glu25373Asp)
c.57204A>C (p.Glu19068Asp)
c.57003A>C (p.Glu19001Asp)
c.56628A>C (p.Glu18876Asp)
c.83823A>C (p.Glu27941Asp)
c.78900A>C (p.Glu26300Asp)
n.447-8991T>G
n.2043+19948T>G
c.82920A>C (p.Glu27640Asp)
c.56814A>C (p.Glu18938Asp)
c.56673A>C (p.Glu18891Asp)
c.82716A>C (p.Glu27572Asp)
c.78114A>C (p.Glu26038Asp)
c.78111A>C (p.Glu26037Asp)
c.75153A>C (p.Glu25051Asp)
c.56769A>C (p.Glu18923Asp)
c.78264A>C (p.Glu26088Asp)
c.78261A>C (p.Glu26087Asp)
c.77694A>C (p.Glu25898Asp)
c.75036A>C (p.Glu25012Asp)
c.74955A>C (p.Glu24985Asp)
c.56718A>C (p.Glu18906Asp)
c.46572A>C (p.Glu15524Asp)
2g.178562310T>ACA349564241TTN,TTN-AS1c.76118A>T (p.Glu25373Val)
c.57203A>T (p.Glu19068Val)
c.57002A>T (p.Glu19001Val)
c.56627A>T (p.Glu18876Val)
c.83822A>T (p.Glu27941Val)
c.78899A>T (p.Glu26300Val)
n.447-8990T>A
n.2043+19949T>A
c.82919A>T (p.Glu27640Val)
c.56813A>T (p.Glu18938Val)
c.56672A>T (p.Glu18891Val)
c.82715A>T (p.Glu27572Val)
c.78113A>T (p.Glu26038Val)
c.78110A>T (p.Glu26037Val)
c.75152A>T (p.Glu25051Val)
c.56768A>T (p.Glu18923Val)
c.78263A>T (p.Glu26088Val)
c.78260A>T (p.Glu26087Val)
c.77693A>T (p.Glu25898Val)
c.75035A>T (p.Glu25012Val)
c.74954A>T (p.Glu24985Val)
c.56717A>T (p.Glu18906Val)
c.46571A>T (p.Glu15524Val)
2g.178562310T>CCA349564242TTN,TTN-AS1c.76118A>G (p.Glu25373Gly)
c.57203A>G (p.Glu19068Gly)
c.57002A>G (p.Glu19001Gly)
c.56627A>G (p.Glu18876Gly)
c.83822A>G (p.Glu27941Gly)
c.78899A>G (p.Glu26300Gly)
n.447-8990T>C
n.2043+19949T>C
c.82919A>G (p.Glu27640Gly)
c.56813A>G (p.Glu18938Gly)
c.56672A>G (p.Glu18891Gly)
c.82715A>G (p.Glu27572Gly)
c.78113A>G (p.Glu26038Gly)
c.78110A>G (p.Glu26037Gly)
c.75152A>G (p.Glu25051Gly)
c.56768A>G (p.Glu18923Gly)
c.78263A>G (p.Glu26088Gly)
c.78260A>G (p.Glu26087Gly)
c.77693A>G (p.Glu25898Gly)
c.75035A>G (p.Glu25012Gly)
c.74954A>G (p.Glu24985Gly)
c.56717A>G (p.Glu18906Gly)
c.46571A>G (p.Glu15524Gly)
2g.178562310T>GCA349564245TTN,TTN-AS1c.76118A>C (p.Glu25373Ala)
c.57203A>C (p.Glu19068Ala)
c.57002A>C (p.Glu19001Ala)
c.56627A>C (p.Glu18876Ala)
c.83822A>C (p.Glu27941Ala)
c.78899A>C (p.Glu26300Ala)
n.447-8990T>G
n.2043+19949T>G
c.82919A>C (p.Glu27640Ala)
c.56813A>C (p.Glu18938Ala)
c.56672A>C (p.Glu18891Ala)
c.82715A>C (p.Glu27572Ala)
c.78113A>C (p.Glu26038Ala)
c.78110A>C (p.Glu26037Ala)
c.75152A>C (p.Glu25051Ala)
c.56768A>C (p.Glu18923Ala)
c.78263A>C (p.Glu26088Ala)
c.78260A>C (p.Glu26087Ala)
c.77693A>C (p.Glu25898Ala)
c.75035A>C (p.Glu25012Ala)
c.74954A>C (p.Glu24985Ala)
c.56717A>C (p.Glu18906Ala)
c.46571A>C (p.Glu15524Ala)
2g.178562311C>ACA349564248TTN,TTN-AS1c.76117G>T (p.Glu25373Ter)
c.57202G>T (p.Glu19068Ter)
c.57001G>T (p.Glu19001Ter)
c.56626G>T (p.Glu18876Ter)
c.83821G>T (p.Glu27941Ter)
c.78898G>T (p.Glu26300Ter)
n.447-8989C>A
n.2043+19950C>A
c.82918G>T (p.Glu27640Ter)
c.56812G>T (p.Glu18938Ter)
c.56671G>T (p.Glu18891Ter)
c.82714G>T (p.Glu27572Ter)
c.78112G>T (p.Glu26038Ter)
c.78109G>T (p.Glu26037Ter)
c.75151G>T (p.Glu25051Ter)
c.56767G>T (p.Glu18923Ter)
c.78262G>T (p.Glu26088Ter)
c.78259G>T (p.Glu26087Ter)
c.77692G>T (p.Glu25898Ter)
c.75034G>T (p.Glu25012Ter)
c.74953G>T (p.Glu24985Ter)
c.56716G>T (p.Glu18906Ter)
c.46570G>T (p.Glu15524Ter)
2g.178562311C=CA1310527805TTN,TTN-AS1c.76117G= (p.Glu25373=)
c.57202G= (p.Glu19068=)
c.57001G= (p.Glu19001=)
c.56626G= (p.Glu18876=)
c.83821G= (p.Glu27941=)
c.78898G= (p.Glu26300=)
n.447-8989C=
n.2043+19950C=
c.82918G= (p.Glu27640=)
c.56812G= (p.Glu18938=)
c.56671G= (p.Glu18891=)
c.82714G= (p.Glu27572=)
c.78112G= (p.Glu26038=)
c.78109G= (p.Glu26037=)
c.75151G= (p.Glu25051=)
c.56767G= (p.Glu18923=)
c.78262G= (p.Glu26088=)
c.78259G= (p.Glu26087=)
c.77692G= (p.Glu25898=)
c.75034G= (p.Glu25012=)
c.74953G= (p.Glu24985=)
c.56716G= (p.Glu18906=)
c.46570G= (p.Glu15524=)
2g.178562311C>GCA349564251TTN,TTN-AS1c.76117G>C (p.Glu25373Gln)
c.57202G>C (p.Glu19068Gln)
c.57001G>C (p.Glu19001Gln)
c.56626G>C (p.Glu18876Gln)
c.83821G>C (p.Glu27941Gln)
c.78898G>C (p.Glu26300Gln)
n.447-8989C>G
n.2043+19950C>G
c.82918G>C (p.Glu27640Gln)
c.56812G>C (p.Glu18938Gln)
c.56671G>C (p.Glu18891Gln)
c.82714G>C (p.Glu27572Gln)
c.78112G>C (p.Glu26038Gln)
c.78109G>C (p.Glu26037Gln)
c.75151G>C (p.Glu25051Gln)
c.56767G>C (p.Glu18923Gln)
c.78262G>C (p.Glu26088Gln)
c.78259G>C (p.Glu26087Gln)
c.77692G>C (p.Glu25898Gln)
c.75034G>C (p.Glu25012Gln)
c.74953G>C (p.Glu24985Gln)
c.56716G>C (p.Glu18906Gln)
c.46570G>C (p.Glu15524Gln)
2g.178562311C>TCA1988864TTN,TTN-AS1c.76117G>A (p.Glu25373Lys)
c.57202G>A (p.Glu19068Lys)
c.57001G>A (p.Glu19001Lys)
c.56626G>A (p.Glu18876Lys)
c.83821G>A (p.Glu27941Lys)
c.78898G>A (p.Glu26300Lys)
n.447-8989C>T
n.2043+19950C>T
c.82918G>A (p.Glu27640Lys)
c.56812G>A (p.Glu18938Lys)
c.56671G>A (p.Glu18891Lys)
c.82714G>A (p.Glu27572Lys)
c.78112G>A (p.Glu26038Lys)
c.78109G>A (p.Glu26037Lys)
c.75151G>A (p.Glu25051Lys)
c.56767G>A (p.Glu18923Lys)
c.78262G>A (p.Glu26088Lys)
c.78259G>A (p.Glu26087Lys)
c.77692G>A (p.Glu25898Lys)
c.75034G>A (p.Glu25012Lys)
c.74953G>A (p.Glu24985Lys)
c.56716G>A (p.Glu18906Lys)
c.46570G>A (p.Glu15524Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
2g.178562312G>ACA178469TTN,TTN-AS1c.76116C>T (p.Asn25372=)
c.57201C>T (p.Asn19067=)
c.57000C>T (p.Asn19000=)
c.56625C>T (p.Asn18875=)
c.83820C>T (p.Asn27940=)
c.78897C>T (p.Asn26299=)
n.447-8988G>A
n.2043+19951G>A
c.82917C>T (p.Asn27639=)
c.56811C>T (p.Asn18937=)
c.56670C>T (p.Asn18890=)
c.82713C>T (p.Asn27571=)
c.78111C>T (p.Asn26037=)
c.78108C>T (p.Asn26036=)
c.75150C>T (p.Asn25050=)
c.56766C>T (p.Asn18922=)
c.78261C>T (p.Asn26087=)
c.78258C>T (p.Asn26086=)
c.77691C>T (p.Asn25897=)
c.75033C>T (p.Asn25011=)
c.74952C>T (p.Asn24984=)
c.56715C>T (p.Asn18905=)
c.46569C>T (p.Asn15523=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.178562312G>CCA349564257TTN,TTN-AS1c.76116C>G (p.Asn25372Lys)
c.57201C>G (p.Asn19067Lys)
c.57000C>G (p.Asn19000Lys)
c.56625C>G (p.Asn18875Lys)
c.83820C>G (p.Asn27940Lys)
c.78897C>G (p.Asn26299Lys)
n.447-8988G>C
n.2043+19951G>C
c.82917C>G (p.Asn27639Lys)
c.56811C>G (p.Asn18937Lys)
c.56670C>G (p.Asn18890Lys)
c.82713C>G (p.Asn27571Lys)
c.78111C>G (p.Asn26037Lys)
c.78108C>G (p.Asn26036Lys)
c.75150C>G (p.Asn25050Lys)
c.56766C>G (p.Asn18922Lys)
c.78261C>G (p.Asn26087Lys)
c.78258C>G (p.Asn26086Lys)
c.77691C>G (p.Asn25897Lys)
c.75033C>G (p.Asn25011Lys)
c.74952C>G (p.Asn24984Lys)
c.56715C>G (p.Asn18905Lys)
c.46569C>G (p.Asn15523Lys)
2g.178562312G=CA1310527806TTN,TTN-AS1c.76116C= (p.Asn25372=)
c.57201C= (p.Asn19067=)
c.57000C= (p.Asn19000=)
c.56625C= (p.Asn18875=)
c.83820C= (p.Asn27940=)
c.78897C= (p.Asn26299=)
n.447-8988G=
n.2043+19951G=
c.82917C= (p.Asn27639=)
c.56811C= (p.Asn18937=)
c.56670C= (p.Asn18890=)
c.82713C= (p.Asn27571=)
c.78111C= (p.Asn26037=)
c.78108C= (p.Asn26036=)
c.75150C= (p.Asn25050=)
c.56766C= (p.Asn18922=)
c.78261C= (p.Asn26087=)
c.78258C= (p.Asn26086=)
c.77691C= (p.Asn25897=)
c.75033C= (p.Asn25011=)
c.74952C= (p.Asn24984=)
c.56715C= (p.Asn18905=)
c.46569C= (p.Asn15523=)
2g.178562312G>TCA349564258TTN,TTN-AS1c.76116C>A (p.Asn25372Lys)
c.57201C>A (p.Asn19067Lys)
c.57000C>A (p.Asn19000Lys)
c.56625C>A (p.Asn18875Lys)
c.83820C>A (p.Asn27940Lys)
c.78897C>A (p.Asn26299Lys)
n.447-8988G>T
n.2043+19951G>T
c.82917C>A (p.Asn27639Lys)
c.56811C>A (p.Asn18937Lys)
c.56670C>A (p.Asn18890Lys)
c.82713C>A (p.Asn27571Lys)
c.78111C>A (p.Asn26037Lys)
c.78108C>A (p.Asn26036Lys)
c.75150C>A (p.Asn25050Lys)
c.56766C>A (p.Asn18922Lys)
c.78261C>A (p.Asn26087Lys)
c.78258C>A (p.Asn26086Lys)
c.77691C>A (p.Asn25897Lys)
c.75033C>A (p.Asn25011Lys)
c.74952C>A (p.Asn24984Lys)
c.56715C>A (p.Asn18905Lys)
c.46569C>A (p.Asn15523Lys)
2g.178562313T>ACA349564266TTN,TTN-AS1c.76115A>T (p.Asn25372Ile)
c.57200A>T (p.Asn19067Ile)
c.56999A>T (p.Asn19000Ile)
c.56624A>T (p.Asn18875Ile)
c.83819A>T (p.Asn27940Ile)
c.78896A>T (p.Asn26299Ile)
n.447-8987T>A
n.2043+19952T>A
c.82916A>T (p.Asn27639Ile)
c.56810A>T (p.Asn18937Ile)
c.56669A>T (p.Asn18890Ile)
c.82712A>T (p.Asn27571Ile)
c.78110A>T (p.Asn26037Ile)
c.78107A>T (p.Asn26036Ile)
c.75149A>T (p.Asn25050Ile)
c.56765A>T (p.Asn18922Ile)
c.78260A>T (p.Asn26087Ile)
c.78257A>T (p.Asn26086Ile)
c.77690A>T (p.Asn25897Ile)
c.75032A>T (p.Asn25011Ile)
c.74951A>T (p.Asn24984Ile)
c.56714A>T (p.Asn18905Ile)
c.46568A>T (p.Asn15523Ile)
2g.178562313T>CCA349564264TTN,TTN-AS1c.76115A>G (p.Asn25372Ser)
c.57200A>G (p.Asn19067Ser)
c.56999A>G (p.Asn19000Ser)
c.56624A>G (p.Asn18875Ser)
c.83819A>G (p.Asn27940Ser)
c.78896A>G (p.Asn26299Ser)
n.447-8987T>C
n.2043+19952T>C
c.82916A>G (p.Asn27639Ser)
c.56810A>G (p.Asn18937Ser)
c.56669A>G (p.Asn18890Ser)
c.82712A>G (p.Asn27571Ser)
c.78110A>G (p.Asn26037Ser)
c.78107A>G (p.Asn26036Ser)
c.75149A>G (p.Asn25050Ser)
c.56765A>G (p.Asn18922Ser)
c.78260A>G (p.Asn26087Ser)
c.78257A>G (p.Asn26086Ser)
c.77690A>G (p.Asn25897Ser)
c.75032A>G (p.Asn25011Ser)
c.74951A>G (p.Asn24984Ser)
c.56714A>G (p.Asn18905Ser)
c.46568A>G (p.Asn15523Ser)
2g.178562313T>GCA349564261TTN,TTN-AS1c.76115A>C (p.Asn25372Thr)
c.57200A>C (p.Asn19067Thr)
c.56999A>C (p.Asn19000Thr)
c.56624A>C (p.Asn18875Thr)
c.83819A>C (p.Asn27940Thr)
c.78896A>C (p.Asn26299Thr)
n.447-8987T>G
n.2043+19952T>G
c.82916A>C (p.Asn27639Thr)
c.56810A>C (p.Asn18937Thr)
c.56669A>C (p.Asn18890Thr)
c.82712A>C (p.Asn27571Thr)
c.78110A>C (p.Asn26037Thr)
c.78107A>C (p.Asn26036Thr)
c.75149A>C (p.Asn25050Thr)
c.56765A>C (p.Asn18922Thr)
c.78260A>C (p.Asn26087Thr)
c.78257A>C (p.Asn26086Thr)
c.77690A>C (p.Asn25897Thr)
c.75032A>C (p.Asn25011Thr)
c.74951A>C (p.Asn24984Thr)
c.56714A>C (p.Asn18905Thr)
c.46568A>C (p.Asn15523Thr)
 dbSNP
2g.178562313T=CA1310527807TTN,TTN-AS1c.76115A= (p.Asn25372=)
c.57200A= (p.Asn19067=)
c.56999A= (p.Asn19000=)
c.56624A= (p.Asn18875=)
c.83819A= (p.Asn27940=)
c.78896A= (p.Asn26299=)
n.447-8987T=
n.2043+19952T=
c.82916A= (p.Asn27639=)
c.56810A= (p.Asn18937=)
c.56669A= (p.Asn18890=)
c.82712A= (p.Asn27571=)
c.78110A= (p.Asn26037=)
c.78107A= (p.Asn26036=)
c.75149A= (p.Asn25050=)
c.56765A= (p.Asn18922=)
c.78260A= (p.Asn26087=)
c.78257A= (p.Asn26086=)
c.77690A= (p.Asn25897=)
c.75032A= (p.Asn25011=)
c.74951A= (p.Asn24984=)
c.56714A= (p.Asn18905=)
c.46568A= (p.Asn15523=)
2g.178562314T>ACA349564267TTN,TTN-AS1c.76114A>T (p.Asn25372Tyr)
c.57199A>T (p.Asn19067Tyr)
c.56998A>T (p.Asn19000Tyr)
c.56623A>T (p.Asn18875Tyr)
c.83818A>T (p.Asn27940Tyr)
c.78895A>T (p.Asn26299Tyr)
n.447-8986T>A
n.2043+19953T>A
c.82915A>T (p.Asn27639Tyr)
c.56809A>T (p.Asn18937Tyr)
c.56668A>T (p.Asn18890Tyr)
c.82711A>T (p.Asn27571Tyr)
c.78109A>T (p.Asn26037Tyr)
c.78106A>T (p.Asn26036Tyr)
c.75148A>T (p.Asn25050Tyr)
c.56764A>T (p.Asn18922Tyr)
c.78259A>T (p.Asn26087Tyr)
c.78256A>T (p.Asn26086Tyr)
c.77689A>T (p.Asn25897Tyr)
c.75031A>T (p.Asn25011Tyr)
c.74950A>T (p.Asn24984Tyr)
c.56713A>T (p.Asn18905Tyr)
c.46567A>T (p.Asn15523Tyr)
2g.178562314T>CCA349564268TTN,TTN-AS1c.76114A>G (p.Asn25372Asp)
c.57199A>G (p.Asn19067Asp)
c.56998A>G (p.Asn19000Asp)
c.56623A>G (p.Asn18875Asp)
c.83818A>G (p.Asn27940Asp)
c.78895A>G (p.Asn26299Asp)
n.447-8986T>C
n.2043+19953T>C
c.82915A>G (p.Asn27639Asp)
c.56809A>G (p.Asn18937Asp)
c.56668A>G (p.Asn18890Asp)
c.82711A>G (p.Asn27571Asp)
c.78109A>G (p.Asn26037Asp)
c.78106A>G (p.Asn26036Asp)
c.75148A>G (p.Asn25050Asp)
c.56764A>G (p.Asn18922Asp)
c.78259A>G (p.Asn26087Asp)
c.78256A>G (p.Asn26086Asp)
c.77689A>G (p.Asn25897Asp)
c.75031A>G (p.Asn25011Asp)
c.74950A>G (p.Asn24984Asp)
c.56713A>G (p.Asn18905Asp)
c.46567A>G (p.Asn15523Asp)
 gnomAD v4
2g.178562314T>GCA349564269TTN,TTN-AS1c.76114A>C (p.Asn25372His)
c.57199A>C (p.Asn19067His)
c.56998A>C (p.Asn19000His)
c.56623A>C (p.Asn18875His)
c.83818A>C (p.Asn27940His)
c.78895A>C (p.Asn26299His)
n.447-8986T>G
n.2043+19953T>G
c.82915A>C (p.Asn27639His)
c.56809A>C (p.Asn18937His)
c.56668A>C (p.Asn18890His)
c.82711A>C (p.Asn27571His)
c.78109A>C (p.Asn26037His)
c.78106A>C (p.Asn26036His)
c.75148A>C (p.Asn25050His)
c.56764A>C (p.Asn18922His)
c.78259A>C (p.Asn26087His)
c.78256A>C (p.Asn26086His)
c.77689A>C (p.Asn25897His)
c.75031A>C (p.Asn25011His)
c.74950A>C (p.Asn24984His)
c.56713A>C (p.Asn18905His)
c.46567A>C (p.Asn15523His)
2g.178562315A=CA1310527808TTN,TTN-AS1c.76113T= (p.Val25371=)
c.57198T= (p.Val19066=)
c.56997T= (p.Val18999=)
c.56622T= (p.Val18874=)
c.83817T= (p.Val27939=)
c.78894T= (p.Val26298=)
n.447-8985A=
n.2043+19954A=
c.82914T= (p.Val27638=)
c.56808T= (p.Val18936=)
c.56667T= (p.Val18889=)
c.82710T= (p.Val27570=)
c.78108T= (p.Val26036=)
c.78105T= (p.Val26035=)
c.75147T= (p.Val25049=)
c.56763T= (p.Val18921=)
c.78258T= (p.Val26086=)
c.78255T= (p.Val26085=)
c.77688T= (p.Val25896=)
c.75030T= (p.Val25010=)
c.74949T= (p.Val24983=)
c.56712T= (p.Val18904=)
c.46566T= (p.Val15522=)
2g.178562315A>CCA430249655TTN,TTN-AS1c.76113T>G (p.Val25371=)
c.57198T>G (p.Val19066=)
c.56997T>G (p.Val18999=)
c.56622T>G (p.Val18874=)
c.83817T>G (p.Val27939=)
c.78894T>G (p.Val26298=)
n.447-8985A>C
n.2043+19954A>C
c.82914T>G (p.Val27638=)
c.56808T>G (p.Val18936=)
c.56667T>G (p.Val18889=)
c.82710T>G (p.Val27570=)
c.78108T>G (p.Val26036=)
c.78105T>G (p.Val26035=)
c.75147T>G (p.Val25049=)
c.56763T>G (p.Val18921=)
c.78258T>G (p.Val26086=)
c.78255T>G (p.Val26085=)
c.77688T>G (p.Val25896=)
c.75030T>G (p.Val25010=)
c.74949T>G (p.Val24983=)
c.56712T>G (p.Val18904=)
c.46566T>G (p.Val15522=)
 dbSNP gnomAD v2 gnomAD v4
2g.178562315A>GCA430249654TTN,TTN-AS1c.76113T>C (p.Val25371=)
c.57198T>C (p.Val19066=)
c.56997T>C (p.Val18999=)
c.56622T>C (p.Val18874=)
c.83817T>C (p.Val27939=)
c.78894T>C (p.Val26298=)
n.447-8985A>G
n.2043+19954A>G
c.82914T>C (p.Val27638=)
c.56808T>C (p.Val18936=)
c.56667T>C (p.Val18889=)
c.82710T>C (p.Val27570=)
c.78108T>C (p.Val26036=)
c.78105T>C (p.Val26035=)
c.75147T>C (p.Val25049=)
c.56763T>C (p.Val18921=)
c.78258T>C (p.Val26086=)
c.78255T>C (p.Val26085=)
c.77688T>C (p.Val25896=)
c.75030T>C (p.Val25010=)
c.74949T>C (p.Val24983=)
c.56712T>C (p.Val18904=)
c.46566T>C (p.Val15522=)
2g.178562315A>TCA430249653TTN,TTN-AS1c.76113T>A (p.Val25371=)
c.57198T>A (p.Val19066=)
c.56997T>A (p.Val18999=)
c.56622T>A (p.Val18874=)
c.83817T>A (p.Val27939=)
c.78894T>A (p.Val26298=)
n.447-8985A>T
n.2043+19954A>T
c.82914T>A (p.Val27638=)
c.56808T>A (p.Val18936=)
c.56667T>A (p.Val18889=)
c.82710T>A (p.Val27570=)
c.78108T>A (p.Val26036=)
c.78105T>A (p.Val26035=)
c.75147T>A (p.Val25049=)
c.56763T>A (p.Val18921=)
c.78258T>A (p.Val26086=)
c.78255T>A (p.Val26085=)
c.77688T>A (p.Val25896=)
c.75030T>A (p.Val25010=)
c.74949T>A (p.Val24983=)
c.56712T>A (p.Val18904=)
c.46566T>A (p.Val15522=)
 ClinVar
2g.178562316A>CCA349564271TTN,TTN-AS1c.76112T>G (p.Val25371Gly)
c.57197T>G (p.Val19066Gly)
c.56996T>G (p.Val18999Gly)
c.56621T>G (p.Val18874Gly)
c.83816T>G (p.Val27939Gly)
c.78893T>G (p.Val26298Gly)
n.447-8984A>C
n.2043+19955A>C
c.82913T>G (p.Val27638Gly)
c.56807T>G (p.Val18936Gly)
c.56666T>G (p.Val18889Gly)
c.82709T>G (p.Val27570Gly)
c.78107T>G (p.Val26036Gly)
c.78104T>G (p.Val26035Gly)
c.75146T>G (p.Val25049Gly)
c.56762T>G (p.Val18921Gly)
c.78257T>G (p.Val26086Gly)
c.78254T>G (p.Val26085Gly)
c.77687T>G (p.Val25896Gly)
c.75029T>G (p.Val25010Gly)
c.74948T>G (p.Val24983Gly)
c.56711T>G (p.Val18904Gly)
c.46565T>G (p.Val15522Gly)
2g.178562316A>GCA349564272TTN,TTN-AS1c.76112T>C (p.Val25371Ala)
c.57197T>C (p.Val19066Ala)
c.56996T>C (p.Val18999Ala)
c.56621T>C (p.Val18874Ala)
c.83816T>C (p.Val27939Ala)
c.78893T>C (p.Val26298Ala)
n.447-8984A>G
n.2043+19955A>G
c.82913T>C (p.Val27638Ala)
c.56807T>C (p.Val18936Ala)
c.56666T>C (p.Val18889Ala)
c.82709T>C (p.Val27570Ala)
c.78107T>C (p.Val26036Ala)
c.78104T>C (p.Val26035Ala)
c.75146T>C (p.Val25049Ala)
c.56762T>C (p.Val18921Ala)
c.78257T>C (p.Val26086Ala)
c.78254T>C (p.Val26085Ala)
c.77687T>C (p.Val25896Ala)
c.75029T>C (p.Val25010Ala)
c.74948T>C (p.Val24983Ala)
c.56711T>C (p.Val18904Ala)
c.46565T>C (p.Val15522Ala)
2g.178562316A>TCA349564273TTN,TTN-AS1c.76112T>A (p.Val25371Asp)
c.57197T>A (p.Val19066Asp)
c.56996T>A (p.Val18999Asp)
c.56621T>A (p.Val18874Asp)
c.83816T>A (p.Val27939Asp)
c.78893T>A (p.Val26298Asp)
n.447-8984A>T
n.2043+19955A>T
c.82913T>A (p.Val27638Asp)
c.56807T>A (p.Val18936Asp)
c.56666T>A (p.Val18889Asp)
c.82709T>A (p.Val27570Asp)
c.78107T>A (p.Val26036Asp)
c.78104T>A (p.Val26035Asp)
c.75146T>A (p.Val25049Asp)
c.56762T>A (p.Val18921Asp)
c.78257T>A (p.Val26086Asp)
c.78254T>A (p.Val26085Asp)
c.77687T>A (p.Val25896Asp)
c.75029T>A (p.Val25010Asp)
c.74948T>A (p.Val24983Asp)
c.56711T>A (p.Val18904Asp)
c.46565T>A (p.Val15522Asp)
2g.178562317C>ACA349564278TTN,TTN-AS1c.76111G>T (p.Val25371Phe)
c.57196G>T (p.Val19066Phe)
c.56995G>T (p.Val18999Phe)
c.56620G>T (p.Val18874Phe)
c.83815G>T (p.Val27939Phe)
c.78892G>T (p.Val26298Phe)
n.447-8983C>A
n.2043+19956C>A
c.82912G>T (p.Val27638Phe)
c.56806G>T (p.Val18936Phe)
c.56665G>T (p.Val18889Phe)
c.82708G>T (p.Val27570Phe)
c.78106G>T (p.Val26036Phe)
c.78103G>T (p.Val26035Phe)
c.75145G>T (p.Val25049Phe)
c.56761G>T (p.Val18921Phe)
c.78256G>T (p.Val26086Phe)
c.78253G>T (p.Val26085Phe)
c.77686G>T (p.Val25896Phe)
c.75028G>T (p.Val25010Phe)
c.74947G>T (p.Val24983Phe)
c.56710G>T (p.Val18904Phe)
c.46564G>T (p.Val15522Phe)
2g.178562317C>GCA349564276TTN,TTN-AS1c.76111G>C (p.Val25371Leu)
c.57196G>C (p.Val19066Leu)
c.56995G>C (p.Val18999Leu)
c.56620G>C (p.Val18874Leu)
c.83815G>C (p.Val27939Leu)
c.78892G>C (p.Val26298Leu)
n.447-8983C>G
n.2043+19956C>G
c.82912G>C (p.Val27638Leu)
c.56806G>C (p.Val18936Leu)
c.56665G>C (p.Val18889Leu)
c.82708G>C (p.Val27570Leu)
c.78106G>C (p.Val26036Leu)
c.78103G>C (p.Val26035Leu)
c.75145G>C (p.Val25049Leu)
c.56761G>C (p.Val18921Leu)
c.78256G>C (p.Val26086Leu)
c.78253G>C (p.Val26085Leu)
c.77686G>C (p.Val25896Leu)
c.75028G>C (p.Val25010Leu)
c.74947G>C (p.Val24983Leu)
c.56710G>C (p.Val18904Leu)
c.46564G>C (p.Val15522Leu)
2g.178562317C>TCA349564274TTN,TTN-AS1c.76111G>A (p.Val25371Ile)
c.57196G>A (p.Val19066Ile)
c.56995G>A (p.Val18999Ile)
c.56620G>A (p.Val18874Ile)
c.83815G>A (p.Val27939Ile)
c.78892G>A (p.Val26298Ile)
n.447-8983C>T
n.2043+19956C>T
c.82912G>A (p.Val27638Ile)
c.56806G>A (p.Val18936Ile)
c.56665G>A (p.Val18889Ile)
c.82708G>A (p.Val27570Ile)
c.78106G>A (p.Val26036Ile)
c.78103G>A (p.Val26035Ile)
c.75145G>A (p.Val25049Ile)
c.56761G>A (p.Val18921Ile)
c.78256G>A (p.Val26086Ile)
c.78253G>A (p.Val26085Ile)
c.77686G>A (p.Val25896Ile)
c.75028G>A (p.Val25010Ile)
c.74947G>A (p.Val24983Ile)
c.56710G>A (p.Val18904Ile)
c.46564G>A (p.Val15522Ile)
2g.178562318T>ACA430249658TTN,TTN-AS1c.76110A>T (p.Ala25370=)
c.57195A>T (p.Ala19065=)
c.56994A>T (p.Ala18998=)
c.56619A>T (p.Ala18873=)
c.83814A>T (p.Ala27938=)
c.78891A>T (p.Ala26297=)
n.447-8982T>A
n.2043+19957T>A
c.82911A>T (p.Ala27637=)
c.56805A>T (p.Ala18935=)
c.56664A>T (p.Ala18888=)
c.82707A>T (p.Ala27569=)
c.78105A>T (p.Ala26035=)
c.78102A>T (p.Ala26034=)
c.75144A>T (p.Ala25048=)
c.56760A>T (p.Ala18920=)
c.78255A>T (p.Ala26085=)
c.78252A>T (p.Ala26084=)
c.77685A>T (p.Ala25895=)
c.75027A>T (p.Ala25009=)
c.74946A>T (p.Ala24982=)
c.56709A>T (p.Ala18903=)
c.46563A>T (p.Ala15521=)
2g.178562318T>CCA430249657TTN,TTN-AS1c.76110A>G (p.Ala25370=)
c.57195A>G (p.Ala19065=)
c.56994A>G (p.Ala18998=)
c.56619A>G (p.Ala18873=)
c.83814A>G (p.Ala27938=)
c.78891A>G (p.Ala26297=)
n.447-8982T>C
n.2043+19957T>C
c.82911A>G (p.Ala27637=)
c.56805A>G (p.Ala18935=)
c.56664A>G (p.Ala18888=)
c.82707A>G (p.Ala27569=)
c.78105A>G (p.Ala26035=)
c.78102A>G (p.Ala26034=)
c.75144A>G (p.Ala25048=)
c.56760A>G (p.Ala18920=)
c.78255A>G (p.Ala26085=)
c.78252A>G (p.Ala26084=)
c.77685A>G (p.Ala25895=)
c.75027A>G (p.Ala25009=)
c.74946A>G (p.Ala24982=)
c.56709A>G (p.Ala18903=)
c.46563A>G (p.Ala15521=)
2g.178562318T>GCA430249656TTN,TTN-AS1c.76110A>C (p.Ala25370=)
c.57195A>C (p.Ala19065=)
c.56994A>C (p.Ala18998=)
c.56619A>C (p.Ala18873=)
c.83814A>C (p.Ala27938=)
c.78891A>C (p.Ala26297=)
n.447-8982T>G
n.2043+19957T>G
c.82911A>C (p.Ala27637=)
c.56805A>C (p.Ala18935=)
c.56664A>C (p.Ala18888=)
c.82707A>C (p.Ala27569=)
c.78105A>C (p.Ala26035=)
c.78102A>C (p.Ala26034=)
c.75144A>C (p.Ala25048=)
c.56760A>C (p.Ala18920=)
c.78255A>C (p.Ala26085=)
c.78252A>C (p.Ala26084=)
c.77685A>C (p.Ala25895=)
c.75027A>C (p.Ala25009=)
c.74946A>C (p.Ala24982=)
c.56709A>C (p.Ala18903=)
c.46563A>C (p.Ala15521=)
2g.178562319G>ACA349564279TTN,TTN-AS1c.76109C>T (p.Ala25370Val)
c.57194C>T (p.Ala19065Val)
c.56993C>T (p.Ala18998Val)
c.56618C>T (p.Ala18873Val)
c.83813C>T (p.Ala27938Val)
c.78890C>T (p.Ala26297Val)
n.447-8981G>A
n.2043+19958G>A
c.82910C>T (p.Ala27637Val)
c.56804C>T (p.Ala18935Val)
c.56663C>T (p.Ala18888Val)
c.82706C>T (p.Ala27569Val)
c.78104C>T (p.Ala26035Val)
c.78101C>T (p.Ala26034Val)
c.75143C>T (p.Ala25048Val)
c.56759C>T (p.Ala18920Val)
c.78254C>T (p.Ala26085Val)
c.78251C>T (p.Ala26084Val)
c.77684C>T (p.Ala25895Val)
c.75026C>T (p.Ala25009Val)
c.74945C>T (p.Ala24982Val)
c.56708C>T (p.Ala18903Val)
c.46562C>T (p.Ala15521Val)

Number of alleles fetched