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.178562071_178562074delCA1310527711TTN,TTN-AS1c.76358_76361del (p.Ser25453LeufsTer23)
c.57443_57446del (p.Ser19148LeufsTer23)
c.57242_57245del (p.Ser19081LeufsTer23)
c.56867_56870del (p.Ser18956LeufsTer23)
c.84062_84065del (p.Ser28021LeufsTer23)
c.79139_79142del (p.Ser26380LeufsTer23)
n.447-9229_447-9226del
n.2043+19710_2043+19713del
c.83159_83162del (p.Ser27720LeufsTer23)
c.57053_57056del (p.Ser19018LeufsTer23)
c.56912_56915del (p.Ser18971LeufsTer23)
c.82955_82958del (p.Ser27652LeufsTer23)
c.78353_78356del (p.Ser26118LeufsTer23)
c.78350_78353del (p.Ser26117LeufsTer23)
c.75392_75395del (p.Ser25131LeufsTer23)
c.57008_57011del (p.Ser19003LeufsTer23)
c.78503_78506del (p.Ser26168LeufsTer23)
c.78500_78503del (p.Ser26167LeufsTer23)
c.77933_77936del (p.Ser25978LeufsTer23)
c.75275_75278del (p.Ser25092LeufsTer23)
c.75194_75197del (p.Ser25065LeufsTer23)
c.56957_56960del (p.Ser18986LeufsTer23)
c.46811_46814del (p.Ser15604LeufsTer23)
 ClinVar dbSNP
2g.178562072_178562073delinsTACA1310527712TTN,TTN-AS1c.76355_76356delinsTA (p.Leu25452=)
c.57440_57441delinsTA (p.Leu19147=)
c.57239_57240delinsTA (p.Leu19080=)
c.56864_56865delinsTA (p.Leu18955=)
c.84059_84060delinsTA (p.Leu28020=)
c.79136_79137delinsTA (p.Leu26379=)
n.447-9228_447-9227delinsTA
n.2043+19711_2043+19712delinsTA
c.83156_83157delinsTA (p.Leu27719=)
c.57050_57051delinsTA (p.Leu19017=)
c.56909_56910delinsTA (p.Leu18970=)
c.82952_82953delinsTA (p.Leu27651=)
c.78350_78351delinsTA (p.Leu26117=)
c.78347_78348delinsTA (p.Leu26116=)
c.75389_75390delinsTA (p.Leu25130=)
c.57005_57006delinsTA (p.Leu19002=)
c.78500_78501delinsTA (p.Leu26167=)
c.78497_78498delinsTA (p.Leu26166=)
c.77930_77931delinsTA (p.Leu25977=)
c.75272_75273delinsTA (p.Leu25091=)
c.75191_75192delinsTA (p.Leu25064=)
c.56954_56955delinsTA (p.Leu18985=)
c.46808_46809delinsTA (p.Leu15603=)
2g.178562073delCA309443TTN,TTN-AS1c.76355del (p.Leu25452HisfsTer25)
c.57440del (p.Leu19147HisfsTer25)
c.57239del (p.Leu19080HisfsTer25)
c.56864del (p.Leu18955HisfsTer25)
c.84059del (p.Leu28020HisfsTer25)
c.79136del (p.Leu26379HisfsTer25)
n.447-9227del
n.2043+19712del
c.83156del (p.Leu27719HisfsTer25)
c.57050del (p.Leu19017HisfsTer25)
c.56909del (p.Leu18970HisfsTer25)
c.82952del (p.Leu27651HisfsTer25)
c.78350del (p.Leu26117HisfsTer25)
c.78347del (p.Leu26116HisfsTer25)
c.75389del (p.Leu25130HisfsTer25)
c.57005del (p.Leu19002HisfsTer25)
c.78500del (p.Leu26167HisfsTer25)
c.78497del (p.Leu26166HisfsTer25)
c.77930del (p.Leu25977HisfsTer25)
c.75272del (p.Leu25091HisfsTer25)
c.75191del (p.Leu25064HisfsTer25)
c.56954del (p.Leu18985HisfsTer25)
c.46808del (p.Leu15603HisfsTer25)
 ClinVar dbSNP
2g.178562073A>CCA349562611TTN,TTN-AS1c.76355T>G (p.Leu25452Arg)
c.57440T>G (p.Leu19147Arg)
c.57239T>G (p.Leu19080Arg)
c.56864T>G (p.Leu18955Arg)
c.84059T>G (p.Leu28020Arg)
c.79136T>G (p.Leu26379Arg)
n.447-9227A>C
n.2043+19712A>C
c.83156T>G (p.Leu27719Arg)
c.57050T>G (p.Leu19017Arg)
c.56909T>G (p.Leu18970Arg)
c.82952T>G (p.Leu27651Arg)
c.78350T>G (p.Leu26117Arg)
c.78347T>G (p.Leu26116Arg)
c.75389T>G (p.Leu25130Arg)
c.57005T>G (p.Leu19002Arg)
c.78500T>G (p.Leu26167Arg)
c.78497T>G (p.Leu26166Arg)
c.77930T>G (p.Leu25977Arg)
c.75272T>G (p.Leu25091Arg)
c.75191T>G (p.Leu25064Arg)
c.56954T>G (p.Leu18985Arg)
c.46808T>G (p.Leu15603Arg)
2g.178562073A>GCA349562616TTN,TTN-AS1c.76355T>C (p.Leu25452Pro)
c.57440T>C (p.Leu19147Pro)
c.57239T>C (p.Leu19080Pro)
c.56864T>C (p.Leu18955Pro)
c.84059T>C (p.Leu28020Pro)
c.79136T>C (p.Leu26379Pro)
n.447-9227A>G
n.2043+19712A>G
c.83156T>C (p.Leu27719Pro)
c.57050T>C (p.Leu19017Pro)
c.56909T>C (p.Leu18970Pro)
c.82952T>C (p.Leu27651Pro)
c.78350T>C (p.Leu26117Pro)
c.78347T>C (p.Leu26116Pro)
c.75389T>C (p.Leu25130Pro)
c.57005T>C (p.Leu19002Pro)
c.78500T>C (p.Leu26167Pro)
c.78497T>C (p.Leu26166Pro)
c.77930T>C (p.Leu25977Pro)
c.75272T>C (p.Leu25091Pro)
c.75191T>C (p.Leu25064Pro)
c.56954T>C (p.Leu18985Pro)
c.46808T>C (p.Leu15603Pro)
2g.178562073A>TCA349562621TTN,TTN-AS1c.76355T>A (p.Leu25452Gln)
c.57440T>A (p.Leu19147Gln)
c.57239T>A (p.Leu19080Gln)
c.56864T>A (p.Leu18955Gln)
c.84059T>A (p.Leu28020Gln)
c.79136T>A (p.Leu26379Gln)
n.447-9227A>T
n.2043+19712A>T
c.83156T>A (p.Leu27719Gln)
c.57050T>A (p.Leu19017Gln)
c.56909T>A (p.Leu18970Gln)
c.82952T>A (p.Leu27651Gln)
c.78350T>A (p.Leu26117Gln)
c.78347T>A (p.Leu26116Gln)
c.75389T>A (p.Leu25130Gln)
c.57005T>A (p.Leu19002Gln)
c.78500T>A (p.Leu26167Gln)
c.78497T>A (p.Leu26166Gln)
c.77930T>A (p.Leu25977Gln)
c.75272T>A (p.Leu25091Gln)
c.75191T>A (p.Leu25064Gln)
c.56954T>A (p.Leu18985Gln)
c.46808T>A (p.Leu15603Gln)
2g.178562074G>ACA430249327TTN,TTN-AS1c.76354C>T (p.Leu25452=)
c.57439C>T (p.Leu19147=)
c.57238C>T (p.Leu19080=)
c.56863C>T (p.Leu18955=)
c.84058C>T (p.Leu28020=)
c.79135C>T (p.Leu26379=)
n.447-9226G>A
n.2043+19713G>A
c.83155C>T (p.Leu27719=)
c.57049C>T (p.Leu19017=)
c.56908C>T (p.Leu18970=)
c.82951C>T (p.Leu27651=)
c.78349C>T (p.Leu26117=)
c.78346C>T (p.Leu26116=)
c.75388C>T (p.Leu25130=)
c.57004C>T (p.Leu19002=)
c.78499C>T (p.Leu26167=)
c.78496C>T (p.Leu26166=)
c.77929C>T (p.Leu25977=)
c.75271C>T (p.Leu25091=)
c.75190C>T (p.Leu25064=)
c.56953C>T (p.Leu18985=)
c.46807C>T (p.Leu15603=)
2g.178562074G>CCA349562628TTN,TTN-AS1c.76354C>G (p.Leu25452Val)
c.57439C>G (p.Leu19147Val)
c.57238C>G (p.Leu19080Val)
c.56863C>G (p.Leu18955Val)
c.84058C>G (p.Leu28020Val)
c.79135C>G (p.Leu26379Val)
n.447-9226G>C
n.2043+19713G>C
c.83155C>G (p.Leu27719Val)
c.57049C>G (p.Leu19017Val)
c.56908C>G (p.Leu18970Val)
c.82951C>G (p.Leu27651Val)
c.78349C>G (p.Leu26117Val)
c.78346C>G (p.Leu26116Val)
c.75388C>G (p.Leu25130Val)
c.57004C>G (p.Leu19002Val)
c.78499C>G (p.Leu26167Val)
c.78496C>G (p.Leu26166Val)
c.77929C>G (p.Leu25977Val)
c.75271C>G (p.Leu25091Val)
c.75190C>G (p.Leu25064Val)
c.56953C>G (p.Leu18985Val)
c.46807C>G (p.Leu15603Val)
 dbSNP
2g.178562074G=CA1310527714TTN,TTN-AS1c.76354C= (p.Leu25452=)
c.57439C= (p.Leu19147=)
c.57238C= (p.Leu19080=)
c.56863C= (p.Leu18955=)
c.84058C= (p.Leu28020=)
c.79135C= (p.Leu26379=)
n.447-9226G=
n.2043+19713G=
c.83155C= (p.Leu27719=)
c.57049C= (p.Leu19017=)
c.56908C= (p.Leu18970=)
c.82951C= (p.Leu27651=)
c.78349C= (p.Leu26117=)
c.78346C= (p.Leu26116=)
c.75388C= (p.Leu25130=)
c.57004C= (p.Leu19002=)
c.78499C= (p.Leu26167=)
c.78496C= (p.Leu26166=)
c.77929C= (p.Leu25977=)
c.75271C= (p.Leu25091=)
c.75190C= (p.Leu25064=)
c.56953C= (p.Leu18985=)
c.46807C= (p.Leu15603=)
2g.178562074G>TCA349562629TTN,TTN-AS1c.76354C>A (p.Leu25452Ile)
c.57439C>A (p.Leu19147Ile)
c.57238C>A (p.Leu19080Ile)
c.56863C>A (p.Leu18955Ile)
c.84058C>A (p.Leu28020Ile)
c.79135C>A (p.Leu26379Ile)
n.447-9226G>T
n.2043+19713G>T
c.83155C>A (p.Leu27719Ile)
c.57049C>A (p.Leu19017Ile)
c.56908C>A (p.Leu18970Ile)
c.82951C>A (p.Leu27651Ile)
c.78349C>A (p.Leu26117Ile)
c.78346C>A (p.Leu26116Ile)
c.75388C>A (p.Leu25130Ile)
c.57004C>A (p.Leu19002Ile)
c.78499C>A (p.Leu26167Ile)
c.78496C>A (p.Leu26166Ile)
c.77929C>A (p.Leu25977Ile)
c.75271C>A (p.Leu25091Ile)
c.75190C>A (p.Leu25064Ile)
c.56953C>A (p.Leu18985Ile)
c.46807C>A (p.Leu15603Ile)
2g.178562075T>ACA430249331TTN,TTN-AS1c.76353A>T (p.Ser25451=)
c.57438A>T (p.Ser19146=)
c.57237A>T (p.Ser19079=)
c.56862A>T (p.Ser18954=)
c.84057A>T (p.Ser28019=)
c.79134A>T (p.Ser26378=)
n.447-9225T>A
n.2043+19714T>A
c.83154A>T (p.Ser27718=)
c.57048A>T (p.Ser19016=)
c.56907A>T (p.Ser18969=)
c.82950A>T (p.Ser27650=)
c.78348A>T (p.Ser26116=)
c.78345A>T (p.Ser26115=)
c.75387A>T (p.Ser25129=)
c.57003A>T (p.Ser19001=)
c.78498A>T (p.Ser26166=)
c.78495A>T (p.Ser26165=)
c.77928A>T (p.Ser25976=)
c.75270A>T (p.Ser25090=)
c.75189A>T (p.Ser25063=)
c.56952A>T (p.Ser18984=)
c.46806A>T (p.Ser15602=)
2g.178562075T>CCA1988835TTN,TTN-AS1c.76353A>G (p.Ser25451=)
c.57438A>G (p.Ser19146=)
c.57237A>G (p.Ser19079=)
c.56862A>G (p.Ser18954=)
c.84057A>G (p.Ser28019=)
c.79134A>G (p.Ser26378=)
n.447-9225T>C
n.2043+19714T>C
c.83154A>G (p.Ser27718=)
c.57048A>G (p.Ser19016=)
c.56907A>G (p.Ser18969=)
c.82950A>G (p.Ser27650=)
c.78348A>G (p.Ser26116=)
c.78345A>G (p.Ser26115=)
c.75387A>G (p.Ser25129=)
c.57003A>G (p.Ser19001=)
c.78498A>G (p.Ser26166=)
c.78495A>G (p.Ser26165=)
c.77928A>G (p.Ser25976=)
c.75270A>G (p.Ser25090=)
c.75189A>G (p.Ser25063=)
c.56952A>G (p.Ser18984=)
c.46806A>G (p.Ser15602=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.178562075T>GCA430249333TTN,TTN-AS1c.76353A>C (p.Ser25451=)
c.57438A>C (p.Ser19146=)
c.57237A>C (p.Ser19079=)
c.56862A>C (p.Ser18954=)
c.84057A>C (p.Ser28019=)
c.79134A>C (p.Ser26378=)
n.447-9225T>G
n.2043+19714T>G
c.83154A>C (p.Ser27718=)
c.57048A>C (p.Ser19016=)
c.56907A>C (p.Ser18969=)
c.82950A>C (p.Ser27650=)
c.78348A>C (p.Ser26116=)
c.78345A>C (p.Ser26115=)
c.75387A>C (p.Ser25129=)
c.57003A>C (p.Ser19001=)
c.78498A>C (p.Ser26166=)
c.78495A>C (p.Ser26165=)
c.77928A>C (p.Ser25976=)
c.75270A>C (p.Ser25090=)
c.75189A>C (p.Ser25063=)
c.56952A>C (p.Ser18984=)
c.46806A>C (p.Ser15602=)
2g.178562075T=CA1310527715TTN,TTN-AS1c.76353A= (p.Ser25451=)
c.57438A= (p.Ser19146=)
c.57237A= (p.Ser19079=)
c.56862A= (p.Ser18954=)
c.84057A= (p.Ser28019=)
c.79134A= (p.Ser26378=)
n.447-9225T=
n.2043+19714T=
c.83154A= (p.Ser27718=)
c.57048A= (p.Ser19016=)
c.56907A= (p.Ser18969=)
c.82950A= (p.Ser27650=)
c.78348A= (p.Ser26116=)
c.78345A= (p.Ser26115=)
c.75387A= (p.Ser25129=)
c.57003A= (p.Ser19001=)
c.78498A= (p.Ser26166=)
c.78495A= (p.Ser26165=)
c.77928A= (p.Ser25976=)
c.75270A= (p.Ser25090=)
c.75189A= (p.Ser25063=)
c.56952A= (p.Ser18984=)
c.46806A= (p.Ser15602=)
2g.178562076G>ACA1988836TTN,TTN-AS1c.76352C>T (p.Ser25451Leu)
c.57437C>T (p.Ser19146Leu)
c.57236C>T (p.Ser19079Leu)
c.56861C>T (p.Ser18954Leu)
c.84056C>T (p.Ser28019Leu)
c.79133C>T (p.Ser26378Leu)
n.447-9224G>A
n.2043+19715G>A
c.83153C>T (p.Ser27718Leu)
c.57047C>T (p.Ser19016Leu)
c.56906C>T (p.Ser18969Leu)
c.82949C>T (p.Ser27650Leu)
c.78347C>T (p.Ser26116Leu)
c.78344C>T (p.Ser26115Leu)
c.75386C>T (p.Ser25129Leu)
c.57002C>T (p.Ser19001Leu)
c.78497C>T (p.Ser26166Leu)
c.78494C>T (p.Ser26165Leu)
c.77927C>T (p.Ser25976Leu)
c.75269C>T (p.Ser25090Leu)
c.75188C>T (p.Ser25063Leu)
c.56951C>T (p.Ser18984Leu)
c.46805C>T (p.Ser15602Leu)
 dbSNP ExAC gnomAD v2
2g.178562076G>CCA349562633TTN,TTN-AS1c.76352C>G (p.Ser25451Ter)
c.57437C>G (p.Ser19146Ter)
c.57236C>G (p.Ser19079Ter)
c.56861C>G (p.Ser18954Ter)
c.84056C>G (p.Ser28019Ter)
c.79133C>G (p.Ser26378Ter)
n.447-9224G>C
n.2043+19715G>C
c.83153C>G (p.Ser27718Ter)
c.57047C>G (p.Ser19016Ter)
c.56906C>G (p.Ser18969Ter)
c.82949C>G (p.Ser27650Ter)
c.78347C>G (p.Ser26116Ter)
c.78344C>G (p.Ser26115Ter)
c.75386C>G (p.Ser25129Ter)
c.57002C>G (p.Ser19001Ter)
c.78497C>G (p.Ser26166Ter)
c.78494C>G (p.Ser26165Ter)
c.77927C>G (p.Ser25976Ter)
c.75269C>G (p.Ser25090Ter)
c.75188C>G (p.Ser25063Ter)
c.56951C>G (p.Ser18984Ter)
c.46805C>G (p.Ser15602Ter)
2g.178562076G=CA1310527716TTN,TTN-AS1c.76352C= (p.Ser25451=)
c.57437C= (p.Ser19146=)
c.57236C= (p.Ser19079=)
c.56861C= (p.Ser18954=)
c.84056C= (p.Ser28019=)
c.79133C= (p.Ser26378=)
n.447-9224G=
n.2043+19715G=
c.83153C= (p.Ser27718=)
c.57047C= (p.Ser19016=)
c.56906C= (p.Ser18969=)
c.82949C= (p.Ser27650=)
c.78347C= (p.Ser26116=)
c.78344C= (p.Ser26115=)
c.75386C= (p.Ser25129=)
c.57002C= (p.Ser19001=)
c.78497C= (p.Ser26166=)
c.78494C= (p.Ser26165=)
c.77927C= (p.Ser25976=)
c.75269C= (p.Ser25090=)
c.75188C= (p.Ser25063=)
c.56951C= (p.Ser18984=)
c.46805C= (p.Ser15602=)
2g.178562076G>TCA349562639TTN,TTN-AS1c.76352C>A (p.Ser25451Ter)
c.57437C>A (p.Ser19146Ter)
c.57236C>A (p.Ser19079Ter)
c.56861C>A (p.Ser18954Ter)
c.84056C>A (p.Ser28019Ter)
c.79133C>A (p.Ser26378Ter)
n.447-9224G>T
n.2043+19715G>T
c.83153C>A (p.Ser27718Ter)
c.57047C>A (p.Ser19016Ter)
c.56906C>A (p.Ser18969Ter)
c.82949C>A (p.Ser27650Ter)
c.78347C>A (p.Ser26116Ter)
c.78344C>A (p.Ser26115Ter)
c.75386C>A (p.Ser25129Ter)
c.57002C>A (p.Ser19001Ter)
c.78497C>A (p.Ser26166Ter)
c.78494C>A (p.Ser26165Ter)
c.77927C>A (p.Ser25976Ter)
c.75269C>A (p.Ser25090Ter)
c.75188C>A (p.Ser25063Ter)
c.56951C>A (p.Ser18984Ter)
c.46805C>A (p.Ser15602Ter)
 ClinVar dbSNP
2g.178562077A=CA1310527717TTN,TTN-AS1c.76351T= (p.Ser25451=)
c.57436T= (p.Ser19146=)
c.57235T= (p.Ser19079=)
c.56860T= (p.Ser18954=)
c.84055T= (p.Ser28019=)
c.79132T= (p.Ser26378=)
n.447-9223A=
n.2043+19716A=
c.83152T= (p.Ser27718=)
c.57046T= (p.Ser19016=)
c.56905T= (p.Ser18969=)
c.82948T= (p.Ser27650=)
c.78346T= (p.Ser26116=)
c.78343T= (p.Ser26115=)
c.75385T= (p.Ser25129=)
c.57001T= (p.Ser19001=)
c.78496T= (p.Ser26166=)
c.78493T= (p.Ser26165=)
c.77926T= (p.Ser25976=)
c.75268T= (p.Ser25090=)
c.75187T= (p.Ser25063=)
c.56950T= (p.Ser18984=)
c.46804T= (p.Ser15602=)
2g.178562077A>CCA349562642TTN,TTN-AS1c.76351T>G (p.Ser25451Ala)
c.57436T>G (p.Ser19146Ala)
c.57235T>G (p.Ser19079Ala)
c.56860T>G (p.Ser18954Ala)
c.84055T>G (p.Ser28019Ala)
c.79132T>G (p.Ser26378Ala)
n.447-9223A>C
n.2043+19716A>C
c.83152T>G (p.Ser27718Ala)
c.57046T>G (p.Ser19016Ala)
c.56905T>G (p.Ser18969Ala)
c.82948T>G (p.Ser27650Ala)
c.78346T>G (p.Ser26116Ala)
c.78343T>G (p.Ser26115Ala)
c.75385T>G (p.Ser25129Ala)
c.57001T>G (p.Ser19001Ala)
c.78496T>G (p.Ser26166Ala)
c.78493T>G (p.Ser26165Ala)
c.77926T>G (p.Ser25976Ala)
c.75268T>G (p.Ser25090Ala)
c.75187T>G (p.Ser25063Ala)
c.56950T>G (p.Ser18984Ala)
c.46804T>G (p.Ser15602Ala)
2g.178562077A>GCA349562646TTN,TTN-AS1c.76351T>C (p.Ser25451Pro)
c.57436T>C (p.Ser19146Pro)
c.57235T>C (p.Ser19079Pro)
c.56860T>C (p.Ser18954Pro)
c.84055T>C (p.Ser28019Pro)
c.79132T>C (p.Ser26378Pro)
n.447-9223A>G
n.2043+19716A>G
c.83152T>C (p.Ser27718Pro)
c.57046T>C (p.Ser19016Pro)
c.56905T>C (p.Ser18969Pro)
c.82948T>C (p.Ser27650Pro)
c.78346T>C (p.Ser26116Pro)
c.78343T>C (p.Ser26115Pro)
c.75385T>C (p.Ser25129Pro)
c.57001T>C (p.Ser19001Pro)
c.78496T>C (p.Ser26166Pro)
c.78493T>C (p.Ser26165Pro)
c.77926T>C (p.Ser25976Pro)
c.75268T>C (p.Ser25090Pro)
c.75187T>C (p.Ser25063Pro)
c.56950T>C (p.Ser18984Pro)
c.46804T>C (p.Ser15602Pro)
2g.178562077A>TCA349562648TTN,TTN-AS1c.76351T>A (p.Ser25451Thr)
c.57436T>A (p.Ser19146Thr)
c.57235T>A (p.Ser19079Thr)
c.56860T>A (p.Ser18954Thr)
c.84055T>A (p.Ser28019Thr)
c.79132T>A (p.Ser26378Thr)
n.447-9223A>T
n.2043+19716A>T
c.83152T>A (p.Ser27718Thr)
c.57046T>A (p.Ser19016Thr)
c.56905T>A (p.Ser18969Thr)
c.82948T>A (p.Ser27650Thr)
c.78346T>A (p.Ser26116Thr)
c.78343T>A (p.Ser26115Thr)
c.75385T>A (p.Ser25129Thr)
c.57001T>A (p.Ser19001Thr)
c.78496T>A (p.Ser26166Thr)
c.78493T>A (p.Ser26165Thr)
c.77926T>A (p.Ser25976Thr)
c.75268T>A (p.Ser25090Thr)
c.75187T>A (p.Ser25063Thr)
c.56950T>A (p.Ser18984Thr)
c.46804T>A (p.Ser15602Thr)
 dbSNP COSMIC COSMIC COSMIC COSMIC
2g.178562078T>ACA430249342TTN,TTN-AS1c.76350A>T (p.Thr25450=)
c.57435A>T (p.Thr19145=)
c.57234A>T (p.Thr19078=)
c.56859A>T (p.Thr18953=)
c.84054A>T (p.Thr28018=)
c.79131A>T (p.Thr26377=)
n.447-9222T>A
n.2043+19717T>A
c.83151A>T (p.Thr27717=)
c.57045A>T (p.Thr19015=)
c.56904A>T (p.Thr18968=)
c.82947A>T (p.Thr27649=)
c.78345A>T (p.Thr26115=)
c.78342A>T (p.Thr26114=)
c.75384A>T (p.Thr25128=)
c.57000A>T (p.Thr19000=)
c.78495A>T (p.Thr26165=)
c.78492A>T (p.Thr26164=)
c.77925A>T (p.Thr25975=)
c.75267A>T (p.Thr25089=)
c.75186A>T (p.Thr25062=)
c.56949A>T (p.Thr18983=)
c.46803A>T (p.Thr15601=)
 dbSNP
2g.178562078T>CCA430249343TTN,TTN-AS1c.76350A>G (p.Thr25450=)
c.57435A>G (p.Thr19145=)
c.57234A>G (p.Thr19078=)
c.56859A>G (p.Thr18953=)
c.84054A>G (p.Thr28018=)
c.79131A>G (p.Thr26377=)
n.447-9222T>C
n.2043+19717T>C
c.83151A>G (p.Thr27717=)
c.57045A>G (p.Thr19015=)
c.56904A>G (p.Thr18968=)
c.82947A>G (p.Thr27649=)
c.78345A>G (p.Thr26115=)
c.78342A>G (p.Thr26114=)
c.75384A>G (p.Thr25128=)
c.57000A>G (p.Thr19000=)
c.78495A>G (p.Thr26165=)
c.78492A>G (p.Thr26164=)
c.77925A>G (p.Thr25975=)
c.75267A>G (p.Thr25089=)
c.75186A>G (p.Thr25062=)
c.56949A>G (p.Thr18983=)
c.46803A>G (p.Thr15601=)
 gnomAD v4
2g.178562078T>GCA430249344TTN,TTN-AS1c.76350A>C (p.Thr25450=)
c.57435A>C (p.Thr19145=)
c.57234A>C (p.Thr19078=)
c.56859A>C (p.Thr18953=)
c.84054A>C (p.Thr28018=)
c.79131A>C (p.Thr26377=)
n.447-9222T>G
n.2043+19717T>G
c.83151A>C (p.Thr27717=)
c.57045A>C (p.Thr19015=)
c.56904A>C (p.Thr18968=)
c.82947A>C (p.Thr27649=)
c.78345A>C (p.Thr26115=)
c.78342A>C (p.Thr26114=)
c.75384A>C (p.Thr25128=)
c.57000A>C (p.Thr19000=)
c.78495A>C (p.Thr26165=)
c.78492A>C (p.Thr26164=)
c.77925A>C (p.Thr25975=)
c.75267A>C (p.Thr25089=)
c.75186A>C (p.Thr25062=)
c.56949A>C (p.Thr18983=)
c.46803A>C (p.Thr15601=)
2g.178562078T=CA1310527718TTN,TTN-AS1c.76350A= (p.Thr25450=)
c.57435A= (p.Thr19145=)
c.57234A= (p.Thr19078=)
c.56859A= (p.Thr18953=)
c.84054A= (p.Thr28018=)
c.79131A= (p.Thr26377=)
n.447-9222T=
n.2043+19717T=
c.83151A= (p.Thr27717=)
c.57045A= (p.Thr19015=)
c.56904A= (p.Thr18968=)
c.82947A= (p.Thr27649=)
c.78345A= (p.Thr26115=)
c.78342A= (p.Thr26114=)
c.75384A= (p.Thr25128=)
c.57000A= (p.Thr19000=)
c.78495A= (p.Thr26165=)
c.78492A= (p.Thr26164=)
c.77925A= (p.Thr25975=)
c.75267A= (p.Thr25089=)
c.75186A= (p.Thr25062=)
c.56949A= (p.Thr18983=)
c.46803A= (p.Thr15601=)
2g.178562079G>ACA349562651TTN,TTN-AS1c.76349C>T (p.Thr25450Ile)
c.57434C>T (p.Thr19145Ile)
c.57233C>T (p.Thr19078Ile)
c.56858C>T (p.Thr18953Ile)
c.84053C>T (p.Thr28018Ile)
c.79130C>T (p.Thr26377Ile)
n.447-9221G>A
n.2043+19718G>A
c.83150C>T (p.Thr27717Ile)
c.57044C>T (p.Thr19015Ile)
c.56903C>T (p.Thr18968Ile)
c.82946C>T (p.Thr27649Ile)
c.78344C>T (p.Thr26115Ile)
c.78341C>T (p.Thr26114Ile)
c.75383C>T (p.Thr25128Ile)
c.56999C>T (p.Thr19000Ile)
c.78494C>T (p.Thr26165Ile)
c.78491C>T (p.Thr26164Ile)
c.77924C>T (p.Thr25975Ile)
c.75266C>T (p.Thr25089Ile)
c.75185C>T (p.Thr25062Ile)
c.56948C>T (p.Thr18983Ile)
c.46802C>T (p.Thr15601Ile)
2g.178562079G>CCA349562662TTN,TTN-AS1c.76349C>G (p.Thr25450Arg)
c.57434C>G (p.Thr19145Arg)
c.57233C>G (p.Thr19078Arg)
c.56858C>G (p.Thr18953Arg)
c.84053C>G (p.Thr28018Arg)
c.79130C>G (p.Thr26377Arg)
n.447-9221G>C
n.2043+19718G>C
c.83150C>G (p.Thr27717Arg)
c.57044C>G (p.Thr19015Arg)
c.56903C>G (p.Thr18968Arg)
c.82946C>G (p.Thr27649Arg)
c.78344C>G (p.Thr26115Arg)
c.78341C>G (p.Thr26114Arg)
c.75383C>G (p.Thr25128Arg)
c.56999C>G (p.Thr19000Arg)
c.78494C>G (p.Thr26165Arg)
c.78491C>G (p.Thr26164Arg)
c.77924C>G (p.Thr25975Arg)
c.75266C>G (p.Thr25089Arg)
c.75185C>G (p.Thr25062Arg)
c.56948C>G (p.Thr18983Arg)
c.46802C>G (p.Thr15601Arg)
2g.178562079G=CA1310527719TTN,TTN-AS1c.76349C= (p.Thr25450=)
c.57434C= (p.Thr19145=)
c.57233C= (p.Thr19078=)
c.56858C= (p.Thr18953=)
c.84053C= (p.Thr28018=)
c.79130C= (p.Thr26377=)
n.447-9221G=
n.2043+19718G=
c.83150C= (p.Thr27717=)
c.57044C= (p.Thr19015=)
c.56903C= (p.Thr18968=)
c.82946C= (p.Thr27649=)
c.78344C= (p.Thr26115=)
c.78341C= (p.Thr26114=)
c.75383C= (p.Thr25128=)
c.56999C= (p.Thr19000=)
c.78494C= (p.Thr26165=)
c.78491C= (p.Thr26164=)
c.77924C= (p.Thr25975=)
c.75266C= (p.Thr25089=)
c.75185C= (p.Thr25062=)
c.56948C= (p.Thr18983=)
c.46802C= (p.Thr15601=)
2g.178562079G>TCA349562665TTN,TTN-AS1c.76349C>A (p.Thr25450Lys)
c.57434C>A (p.Thr19145Lys)
c.57233C>A (p.Thr19078Lys)
c.56858C>A (p.Thr18953Lys)
c.84053C>A (p.Thr28018Lys)
c.79130C>A (p.Thr26377Lys)
n.447-9221G>T
n.2043+19718G>T
c.83150C>A (p.Thr27717Lys)
c.57044C>A (p.Thr19015Lys)
c.56903C>A (p.Thr18968Lys)
c.82946C>A (p.Thr27649Lys)
c.78344C>A (p.Thr26115Lys)
c.78341C>A (p.Thr26114Lys)
c.75383C>A (p.Thr25128Lys)
c.56999C>A (p.Thr19000Lys)
c.78494C>A (p.Thr26165Lys)
c.78491C>A (p.Thr26164Lys)
c.77924C>A (p.Thr25975Lys)
c.75266C>A (p.Thr25089Lys)
c.75185C>A (p.Thr25062Lys)
c.56948C>A (p.Thr18983Lys)
c.46802C>A (p.Thr15601Lys)
 ClinVar dbSNP
2g.178562080T>ACA349562669TTN,TTN-AS1c.76348A>T (p.Thr25450Ser)
c.57433A>T (p.Thr19145Ser)
c.57232A>T (p.Thr19078Ser)
c.56857A>T (p.Thr18953Ser)
c.84052A>T (p.Thr28018Ser)
c.79129A>T (p.Thr26377Ser)
n.447-9220T>A
n.2043+19719T>A
c.83149A>T (p.Thr27717Ser)
c.57043A>T (p.Thr19015Ser)
c.56902A>T (p.Thr18968Ser)
c.82945A>T (p.Thr27649Ser)
c.78343A>T (p.Thr26115Ser)
c.78340A>T (p.Thr26114Ser)
c.75382A>T (p.Thr25128Ser)
c.56998A>T (p.Thr19000Ser)
c.78493A>T (p.Thr26165Ser)
c.78490A>T (p.Thr26164Ser)
c.77923A>T (p.Thr25975Ser)
c.75265A>T (p.Thr25089Ser)
c.75184A>T (p.Thr25062Ser)
c.56947A>T (p.Thr18983Ser)
c.46801A>T (p.Thr15601Ser)
2g.178562080T>CCA349562676TTN,TTN-AS1c.76348A>G (p.Thr25450Ala)
c.57433A>G (p.Thr19145Ala)
c.57232A>G (p.Thr19078Ala)
c.56857A>G (p.Thr18953Ala)
c.84052A>G (p.Thr28018Ala)
c.79129A>G (p.Thr26377Ala)
n.447-9220T>C
n.2043+19719T>C
c.83149A>G (p.Thr27717Ala)
c.57043A>G (p.Thr19015Ala)
c.56902A>G (p.Thr18968Ala)
c.82945A>G (p.Thr27649Ala)
c.78343A>G (p.Thr26115Ala)
c.78340A>G (p.Thr26114Ala)
c.75382A>G (p.Thr25128Ala)
c.56998A>G (p.Thr19000Ala)
c.78493A>G (p.Thr26165Ala)
c.78490A>G (p.Thr26164Ala)
c.77923A>G (p.Thr25975Ala)
c.75265A>G (p.Thr25089Ala)
c.75184A>G (p.Thr25062Ala)
c.56947A>G (p.Thr18983Ala)
c.46801A>G (p.Thr15601Ala)
 gnomAD v4
2g.178562080T>GCA349562677TTN,TTN-AS1c.76348A>C (p.Thr25450Pro)
c.57433A>C (p.Thr19145Pro)
c.57232A>C (p.Thr19078Pro)
c.56857A>C (p.Thr18953Pro)
c.84052A>C (p.Thr28018Pro)
c.79129A>C (p.Thr26377Pro)
n.447-9220T>G
n.2043+19719T>G
c.83149A>C (p.Thr27717Pro)
c.57043A>C (p.Thr19015Pro)
c.56902A>C (p.Thr18968Pro)
c.82945A>C (p.Thr27649Pro)
c.78343A>C (p.Thr26115Pro)
c.78340A>C (p.Thr26114Pro)
c.75382A>C (p.Thr25128Pro)
c.56998A>C (p.Thr19000Pro)
c.78493A>C (p.Thr26165Pro)
c.78490A>C (p.Thr26164Pro)
c.77923A>C (p.Thr25975Pro)
c.75265A>C (p.Thr25089Pro)
c.75184A>C (p.Thr25062Pro)
c.56947A>C (p.Thr18983Pro)
c.46801A>C (p.Thr15601Pro)
2g.178562081T>ACA430249351TTN,TTN-AS1c.76347A>T (p.Val25449=)
c.57432A>T (p.Val19144=)
c.57231A>T (p.Val19077=)
c.56856A>T (p.Val18952=)
c.84051A>T (p.Val28017=)
c.79128A>T (p.Val26376=)
n.447-9219T>A
n.2043+19720T>A
c.83148A>T (p.Val27716=)
c.57042A>T (p.Val19014=)
c.56901A>T (p.Val18967=)
c.82944A>T (p.Val27648=)
c.78342A>T (p.Val26114=)
c.78339A>T (p.Val26113=)
c.75381A>T (p.Val25127=)
c.56997A>T (p.Val18999=)
c.78492A>T (p.Val26164=)
c.78489A>T (p.Val26163=)
c.77922A>T (p.Val25974=)
c.75264A>T (p.Val25088=)
c.75183A>T (p.Val25061=)
c.56946A>T (p.Val18982=)
c.46800A>T (p.Val15600=)
2g.178562081T>CCA430249353TTN,TTN-AS1c.76347A>G (p.Val25449=)
c.57432A>G (p.Val19144=)
c.57231A>G (p.Val19077=)
c.56856A>G (p.Val18952=)
c.84051A>G (p.Val28017=)
c.79128A>G (p.Val26376=)
n.447-9219T>C
n.2043+19720T>C
c.83148A>G (p.Val27716=)
c.57042A>G (p.Val19014=)
c.56901A>G (p.Val18967=)
c.82944A>G (p.Val27648=)
c.78342A>G (p.Val26114=)
c.78339A>G (p.Val26113=)
c.75381A>G (p.Val25127=)
c.56997A>G (p.Val18999=)
c.78492A>G (p.Val26164=)
c.78489A>G (p.Val26163=)
c.77922A>G (p.Val25974=)
c.75264A>G (p.Val25088=)
c.75183A>G (p.Val25061=)
c.56946A>G (p.Val18982=)
c.46800A>G (p.Val15600=)
 gnomAD v4
2g.178562081T>GCA430249352TTN,TTN-AS1c.76347A>C (p.Val25449=)
c.57432A>C (p.Val19144=)
c.57231A>C (p.Val19077=)
c.56856A>C (p.Val18952=)
c.84051A>C (p.Val28017=)
c.79128A>C (p.Val26376=)
n.447-9219T>G
n.2043+19720T>G
c.83148A>C (p.Val27716=)
c.57042A>C (p.Val19014=)
c.56901A>C (p.Val18967=)
c.82944A>C (p.Val27648=)
c.78342A>C (p.Val26114=)
c.78339A>C (p.Val26113=)
c.75381A>C (p.Val25127=)
c.56997A>C (p.Val18999=)
c.78492A>C (p.Val26164=)
c.78489A>C (p.Val26163=)
c.77922A>C (p.Val25974=)
c.75264A>C (p.Val25088=)
c.75183A>C (p.Val25061=)
c.56946A>C (p.Val18982=)
c.46800A>C (p.Val15600=)
2g.178562082A>CCA349562682TTN,TTN-AS1c.76346T>G (p.Val25449Gly)
c.57431T>G (p.Val19144Gly)
c.57230T>G (p.Val19077Gly)
c.56855T>G (p.Val18952Gly)
c.84050T>G (p.Val28017Gly)
c.79127T>G (p.Val26376Gly)
n.447-9218A>C
n.2043+19721A>C
c.83147T>G (p.Val27716Gly)
c.57041T>G (p.Val19014Gly)
c.56900T>G (p.Val18967Gly)
c.82943T>G (p.Val27648Gly)
c.78341T>G (p.Val26114Gly)
c.78338T>G (p.Val26113Gly)
c.75380T>G (p.Val25127Gly)
c.56996T>G (p.Val18999Gly)
c.78491T>G (p.Val26164Gly)
c.78488T>G (p.Val26163Gly)
c.77921T>G (p.Val25974Gly)
c.75263T>G (p.Val25088Gly)
c.75182T>G (p.Val25061Gly)
c.56945T>G (p.Val18982Gly)
c.46799T>G (p.Val15600Gly)
2g.178562082A>GCA349562688TTN,TTN-AS1c.76346T>C (p.Val25449Ala)
c.57431T>C (p.Val19144Ala)
c.57230T>C (p.Val19077Ala)
c.56855T>C (p.Val18952Ala)
c.84050T>C (p.Val28017Ala)
c.79127T>C (p.Val26376Ala)
n.447-9218A>G
n.2043+19721A>G
c.83147T>C (p.Val27716Ala)
c.57041T>C (p.Val19014Ala)
c.56900T>C (p.Val18967Ala)
c.82943T>C (p.Val27648Ala)
c.78341T>C (p.Val26114Ala)
c.78338T>C (p.Val26113Ala)
c.75380T>C (p.Val25127Ala)
c.56996T>C (p.Val18999Ala)
c.78491T>C (p.Val26164Ala)
c.78488T>C (p.Val26163Ala)
c.77921T>C (p.Val25974Ala)
c.75263T>C (p.Val25088Ala)
c.75182T>C (p.Val25061Ala)
c.56945T>C (p.Val18982Ala)
c.46799T>C (p.Val15600Ala)
2g.178562082A>TCA349562691TTN,TTN-AS1c.76346T>A (p.Val25449Glu)
c.57431T>A (p.Val19144Glu)
c.57230T>A (p.Val19077Glu)
c.56855T>A (p.Val18952Glu)
c.84050T>A (p.Val28017Glu)
c.79127T>A (p.Val26376Glu)
n.447-9218A>T
n.2043+19721A>T
c.83147T>A (p.Val27716Glu)
c.57041T>A (p.Val19014Glu)
c.56900T>A (p.Val18967Glu)
c.82943T>A (p.Val27648Glu)
c.78341T>A (p.Val26114Glu)
c.78338T>A (p.Val26113Glu)
c.75380T>A (p.Val25127Glu)
c.56996T>A (p.Val18999Glu)
c.78491T>A (p.Val26164Glu)
c.78488T>A (p.Val26163Glu)
c.77921T>A (p.Val25974Glu)
c.75263T>A (p.Val25088Glu)
c.75182T>A (p.Val25061Glu)
c.56945T>A (p.Val18982Glu)
c.46799T>A (p.Val15600Glu)
2g.178562083C>ACA349562696TTN,TTN-AS1c.76345G>T (p.Val25449Leu)
c.57430G>T (p.Val19144Leu)
c.57229G>T (p.Val19077Leu)
c.56854G>T (p.Val18952Leu)
c.84049G>T (p.Val28017Leu)
c.79126G>T (p.Val26376Leu)
n.447-9217C>A
n.2043+19722C>A
c.83146G>T (p.Val27716Leu)
c.57040G>T (p.Val19014Leu)
c.56899G>T (p.Val18967Leu)
c.82942G>T (p.Val27648Leu)
c.78340G>T (p.Val26114Leu)
c.78337G>T (p.Val26113Leu)
c.75379G>T (p.Val25127Leu)
c.56995G>T (p.Val18999Leu)
c.78490G>T (p.Val26164Leu)
c.78487G>T (p.Val26163Leu)
c.77920G>T (p.Val25974Leu)
c.75262G>T (p.Val25088Leu)
c.75181G>T (p.Val25061Leu)
c.56944G>T (p.Val18982Leu)
c.46798G>T (p.Val15600Leu)
2g.178562083C=CA1310527720TTN,TTN-AS1c.76345G= (p.Val25449=)
c.57430G= (p.Val19144=)
c.57229G= (p.Val19077=)
c.56854G= (p.Val18952=)
c.84049G= (p.Val28017=)
c.79126G= (p.Val26376=)
n.447-9217C=
n.2043+19722C=
c.83146G= (p.Val27716=)
c.57040G= (p.Val19014=)
c.56899G= (p.Val18967=)
c.82942G= (p.Val27648=)
c.78340G= (p.Val26114=)
c.78337G= (p.Val26113=)
c.75379G= (p.Val25127=)
c.56995G= (p.Val18999=)
c.78490G= (p.Val26164=)
c.78487G= (p.Val26163=)
c.77920G= (p.Val25974=)
c.75262G= (p.Val25088=)
c.75181G= (p.Val25061=)
c.56944G= (p.Val18982=)
c.46798G= (p.Val15600=)
2g.178562083C>GCA349562701TTN,TTN-AS1c.76345G>C (p.Val25449Leu)
c.57430G>C (p.Val19144Leu)
c.57229G>C (p.Val19077Leu)
c.56854G>C (p.Val18952Leu)
c.84049G>C (p.Val28017Leu)
c.79126G>C (p.Val26376Leu)
n.447-9217C>G
n.2043+19722C>G
c.83146G>C (p.Val27716Leu)
c.57040G>C (p.Val19014Leu)
c.56899G>C (p.Val18967Leu)
c.82942G>C (p.Val27648Leu)
c.78340G>C (p.Val26114Leu)
c.78337G>C (p.Val26113Leu)
c.75379G>C (p.Val25127Leu)
c.56995G>C (p.Val18999Leu)
c.78490G>C (p.Val26164Leu)
c.78487G>C (p.Val26163Leu)
c.77920G>C (p.Val25974Leu)
c.75262G>C (p.Val25088Leu)
c.75181G>C (p.Val25061Leu)
c.56944G>C (p.Val18982Leu)
c.46798G>C (p.Val15600Leu)
2g.178562083C>TCA1988837TTN,TTN-AS1c.76345G>A (p.Val25449Ile)
c.57430G>A (p.Val19144Ile)
c.57229G>A (p.Val19077Ile)
c.56854G>A (p.Val18952Ile)
c.84049G>A (p.Val28017Ile)
c.79126G>A (p.Val26376Ile)
n.447-9217C>T
n.2043+19722C>T
c.83146G>A (p.Val27716Ile)
c.57040G>A (p.Val19014Ile)
c.56899G>A (p.Val18967Ile)
c.82942G>A (p.Val27648Ile)
c.78340G>A (p.Val26114Ile)
c.78337G>A (p.Val26113Ile)
c.75379G>A (p.Val25127Ile)
c.56995G>A (p.Val18999Ile)
c.78490G>A (p.Val26164Ile)
c.78487G>A (p.Val26163Ile)
c.77920G>A (p.Val25974Ile)
c.75262G>A (p.Val25088Ile)
c.75181G>A (p.Val25061Ile)
c.56944G>A (p.Val18982Ile)
c.46798G>A (p.Val15600Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178562084A=CA1310527721TTN,TTN-AS1c.76344T= (p.Thr25448=)
c.57429T= (p.Thr19143=)
c.57228T= (p.Thr19076=)
c.56853T= (p.Thr18951=)
c.84048T= (p.Thr28016=)
c.79125T= (p.Thr26375=)
n.447-9216A=
n.2043+19723A=
c.83145T= (p.Thr27715=)
c.57039T= (p.Thr19013=)
c.56898T= (p.Thr18966=)
c.82941T= (p.Thr27647=)
c.78339T= (p.Thr26113=)
c.78336T= (p.Thr26112=)
c.75378T= (p.Thr25126=)
c.56994T= (p.Thr18998=)
c.78489T= (p.Thr26163=)
c.78486T= (p.Thr26162=)
c.77919T= (p.Thr25973=)
c.75261T= (p.Thr25087=)
c.75180T= (p.Thr25060=)
c.56943T= (p.Thr18981=)
c.46797T= (p.Thr15599=)
2g.178562084A>CCA430249359TTN,TTN-AS1c.76344T>G (p.Thr25448=)
c.57429T>G (p.Thr19143=)
c.57228T>G (p.Thr19076=)
c.56853T>G (p.Thr18951=)
c.84048T>G (p.Thr28016=)
c.79125T>G (p.Thr26375=)
n.447-9216A>C
n.2043+19723A>C
c.83145T>G (p.Thr27715=)
c.57039T>G (p.Thr19013=)
c.56898T>G (p.Thr18966=)
c.82941T>G (p.Thr27647=)
c.78339T>G (p.Thr26113=)
c.78336T>G (p.Thr26112=)
c.75378T>G (p.Thr25126=)
c.56994T>G (p.Thr18998=)
c.78489T>G (p.Thr26163=)
c.78486T>G (p.Thr26162=)
c.77919T>G (p.Thr25973=)
c.75261T>G (p.Thr25087=)
c.75180T>G (p.Thr25060=)
c.56943T>G (p.Thr18981=)
c.46797T>G (p.Thr15599=)
 dbSNP
2g.178562084A>GCA430249363TTN,TTN-AS1c.76344T>C (p.Thr25448=)
c.57429T>C (p.Thr19143=)
c.57228T>C (p.Thr19076=)
c.56853T>C (p.Thr18951=)
c.84048T>C (p.Thr28016=)
c.79125T>C (p.Thr26375=)
n.447-9216A>G
n.2043+19723A>G
c.83145T>C (p.Thr27715=)
c.57039T>C (p.Thr19013=)
c.56898T>C (p.Thr18966=)
c.82941T>C (p.Thr27647=)
c.78339T>C (p.Thr26113=)
c.78336T>C (p.Thr26112=)
c.75378T>C (p.Thr25126=)
c.56994T>C (p.Thr18998=)
c.78489T>C (p.Thr26163=)
c.78486T>C (p.Thr26162=)
c.77919T>C (p.Thr25973=)
c.75261T>C (p.Thr25087=)
c.75180T>C (p.Thr25060=)
c.56943T>C (p.Thr18981=)
c.46797T>C (p.Thr15599=)
2g.178562084A>TCA430249361TTN,TTN-AS1c.76344T>A (p.Thr25448=)
c.57429T>A (p.Thr19143=)
c.57228T>A (p.Thr19076=)
c.56853T>A (p.Thr18951=)
c.84048T>A (p.Thr28016=)
c.79125T>A (p.Thr26375=)
n.447-9216A>T
n.2043+19723A>T
c.83145T>A (p.Thr27715=)
c.57039T>A (p.Thr19013=)
c.56898T>A (p.Thr18966=)
c.82941T>A (p.Thr27647=)
c.78339T>A (p.Thr26113=)
c.78336T>A (p.Thr26112=)
c.75378T>A (p.Thr25126=)
c.56994T>A (p.Thr18998=)
c.78489T>A (p.Thr26163=)
c.78486T>A (p.Thr26162=)
c.77919T>A (p.Thr25973=)
c.75261T>A (p.Thr25087=)
c.75180T>A (p.Thr25060=)
c.56943T>A (p.Thr18981=)
c.46797T>A (p.Thr15599=)
2g.178562085G>ACA1988838TTN,TTN-AS1c.76343C>T (p.Thr25448Ile)
c.57428C>T (p.Thr19143Ile)
c.57227C>T (p.Thr19076Ile)
c.56852C>T (p.Thr18951Ile)
c.84047C>T (p.Thr28016Ile)
c.79124C>T (p.Thr26375Ile)
n.447-9215G>A
n.2043+19724G>A
c.83144C>T (p.Thr27715Ile)
c.57038C>T (p.Thr19013Ile)
c.56897C>T (p.Thr18966Ile)
c.82940C>T (p.Thr27647Ile)
c.78338C>T (p.Thr26113Ile)
c.78335C>T (p.Thr26112Ile)
c.75377C>T (p.Thr25126Ile)
c.56993C>T (p.Thr18998Ile)
c.78488C>T (p.Thr26163Ile)
c.78485C>T (p.Thr26162Ile)
c.77918C>T (p.Thr25973Ile)
c.75260C>T (p.Thr25087Ile)
c.75179C>T (p.Thr25060Ile)
c.56942C>T (p.Thr18981Ile)
c.46796C>T (p.Thr15599Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178562085G>CCA60985268TTN,TTN-AS1c.76343C>G (p.Thr25448Ser)
c.57428C>G (p.Thr19143Ser)
c.57227C>G (p.Thr19076Ser)
c.56852C>G (p.Thr18951Ser)
c.84047C>G (p.Thr28016Ser)
c.79124C>G (p.Thr26375Ser)
n.447-9215G>C
n.2043+19724G>C
c.83144C>G (p.Thr27715Ser)
c.57038C>G (p.Thr19013Ser)
c.56897C>G (p.Thr18966Ser)
c.82940C>G (p.Thr27647Ser)
c.78338C>G (p.Thr26113Ser)
c.78335C>G (p.Thr26112Ser)
c.75377C>G (p.Thr25126Ser)
c.56993C>G (p.Thr18998Ser)
c.78488C>G (p.Thr26163Ser)
c.78485C>G (p.Thr26162Ser)
c.77918C>G (p.Thr25973Ser)
c.75260C>G (p.Thr25087Ser)
c.75179C>G (p.Thr25060Ser)
c.56942C>G (p.Thr18981Ser)
c.46796C>G (p.Thr15599Ser)
 dbSNP

Number of alleles fetched