Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.178567183T>ACA349600473TTN,TTN-AS1c.71245A>T (p.Ser23749Cys)
c.52330A>T (p.Ser17444Cys)
c.52129A>T (p.Ser17377Cys)
c.51754A>T (p.Ser17252Cys)
c.78949A>T (p.Ser26317Cys)
c.74026A>T (p.Ser24676Cys)
n.447-4117T>A
n.2044-15389T>A
c.78046A>T (p.Ser26016Cys)
c.51940A>T (p.Ser17314Cys)
c.51799A>T (p.Ser17267Cys)
c.77842A>T (p.Ser25948Cys)
c.73240A>T (p.Ser24414Cys)
c.73237A>T (p.Ser24413Cys)
c.70279A>T (p.Ser23427Cys)
c.51895A>T (p.Ser17299Cys)
c.73390A>T (p.Ser24464Cys)
c.73387A>T (p.Ser24463Cys)
c.72820A>T (p.Ser24274Cys)
c.70162A>T (p.Ser23388Cys)
c.70081A>T (p.Ser23361Cys)
c.51844A>T (p.Ser17282Cys)
c.41698A>T (p.Ser13900Cys)
2g.178567183T>CCA349600474TTN,TTN-AS1c.71245A>G (p.Ser23749Gly)
c.52330A>G (p.Ser17444Gly)
c.52129A>G (p.Ser17377Gly)
c.51754A>G (p.Ser17252Gly)
c.78949A>G (p.Ser26317Gly)
c.74026A>G (p.Ser24676Gly)
n.447-4117T>C
n.2044-15389T>C
c.78046A>G (p.Ser26016Gly)
c.51940A>G (p.Ser17314Gly)
c.51799A>G (p.Ser17267Gly)
c.77842A>G (p.Ser25948Gly)
c.73240A>G (p.Ser24414Gly)
c.73237A>G (p.Ser24413Gly)
c.70279A>G (p.Ser23427Gly)
c.51895A>G (p.Ser17299Gly)
c.73390A>G (p.Ser24464Gly)
c.73387A>G (p.Ser24463Gly)
c.72820A>G (p.Ser24274Gly)
c.70162A>G (p.Ser23388Gly)
c.70081A>G (p.Ser23361Gly)
c.51844A>G (p.Ser17282Gly)
c.41698A>G (p.Ser13900Gly)
2g.178567183T>GCA349600476TTN,TTN-AS1c.71245A>C (p.Ser23749Arg)
c.52330A>C (p.Ser17444Arg)
c.52129A>C (p.Ser17377Arg)
c.51754A>C (p.Ser17252Arg)
c.78949A>C (p.Ser26317Arg)
c.74026A>C (p.Ser24676Arg)
n.447-4117T>G
n.2044-15389T>G
c.78046A>C (p.Ser26016Arg)
c.51940A>C (p.Ser17314Arg)
c.51799A>C (p.Ser17267Arg)
c.77842A>C (p.Ser25948Arg)
c.73240A>C (p.Ser24414Arg)
c.73237A>C (p.Ser24413Arg)
c.70279A>C (p.Ser23427Arg)
c.51895A>C (p.Ser17299Arg)
c.73390A>C (p.Ser24464Arg)
c.73387A>C (p.Ser24463Arg)
c.72820A>C (p.Ser24274Arg)
c.70162A>C (p.Ser23388Arg)
c.70081A>C (p.Ser23361Arg)
c.51844A>C (p.Ser17282Arg)
c.41698A>C (p.Ser13900Arg)
 gnomAD v4
2g.178567184G>ACA430252821TTN,TTN-AS1c.71244C>T (p.Gly23748=)
c.52329C>T (p.Gly17443=)
c.52128C>T (p.Gly17376=)
c.51753C>T (p.Gly17251=)
c.78948C>T (p.Gly26316=)
c.74025C>T (p.Gly24675=)
n.447-4116G>A
n.2044-15388G>A
c.78045C>T (p.Gly26015=)
c.51939C>T (p.Gly17313=)
c.51798C>T (p.Gly17266=)
c.77841C>T (p.Gly25947=)
c.73239C>T (p.Gly24413=)
c.73236C>T (p.Gly24412=)
c.70278C>T (p.Gly23426=)
c.51894C>T (p.Gly17298=)
c.73389C>T (p.Gly24463=)
c.73386C>T (p.Gly24462=)
c.72819C>T (p.Gly24273=)
c.70161C>T (p.Gly23387=)
c.70080C>T (p.Gly23360=)
c.51843C>T (p.Gly17281=)
c.41697C>T (p.Gly13899=)
 dbSNP gnomAD v3 gnomAD v4
2g.178567184G>CCA430252825TTN,TTN-AS1c.71244C>G (p.Gly23748=)
c.52329C>G (p.Gly17443=)
c.52128C>G (p.Gly17376=)
c.51753C>G (p.Gly17251=)
c.78948C>G (p.Gly26316=)
c.74025C>G (p.Gly24675=)
n.447-4116G>C
n.2044-15388G>C
c.78045C>G (p.Gly26015=)
c.51939C>G (p.Gly17313=)
c.51798C>G (p.Gly17266=)
c.77841C>G (p.Gly25947=)
c.73239C>G (p.Gly24413=)
c.73236C>G (p.Gly24412=)
c.70278C>G (p.Gly23426=)
c.51894C>G (p.Gly17298=)
c.73389C>G (p.Gly24463=)
c.73386C>G (p.Gly24462=)
c.72819C>G (p.Gly24273=)
c.70161C>G (p.Gly23387=)
c.70080C>G (p.Gly23360=)
c.51843C>G (p.Gly17281=)
c.41697C>G (p.Gly13899=)
2g.178567184G=CA1310529821TTN,TTN-AS1c.71244C= (p.Gly23748=)
c.52329C= (p.Gly17443=)
c.52128C= (p.Gly17376=)
c.51753C= (p.Gly17251=)
c.78948C= (p.Gly26316=)
c.74025C= (p.Gly24675=)
n.447-4116G=
n.2044-15388G=
c.78045C= (p.Gly26015=)
c.51939C= (p.Gly17313=)
c.51798C= (p.Gly17266=)
c.77841C= (p.Gly25947=)
c.73239C= (p.Gly24413=)
c.73236C= (p.Gly24412=)
c.70278C= (p.Gly23426=)
c.51894C= (p.Gly17298=)
c.73389C= (p.Gly24463=)
c.73386C= (p.Gly24462=)
c.72819C= (p.Gly24273=)
c.70161C= (p.Gly23387=)
c.70080C= (p.Gly23360=)
c.51843C= (p.Gly17281=)
c.41697C= (p.Gly13899=)
2g.178567184G>TCA430252824TTN,TTN-AS1c.71244C>A (p.Gly23748=)
c.52329C>A (p.Gly17443=)
c.52128C>A (p.Gly17376=)
c.51753C>A (p.Gly17251=)
c.78948C>A (p.Gly26316=)
c.74025C>A (p.Gly24675=)
n.447-4116G>T
n.2044-15388G>T
c.78045C>A (p.Gly26015=)
c.51939C>A (p.Gly17313=)
c.51798C>A (p.Gly17266=)
c.77841C>A (p.Gly25947=)
c.73239C>A (p.Gly24413=)
c.73236C>A (p.Gly24412=)
c.70278C>A (p.Gly23426=)
c.51894C>A (p.Gly17298=)
c.73389C>A (p.Gly24463=)
c.73386C>A (p.Gly24462=)
c.72819C>A (p.Gly24273=)
c.70161C>A (p.Gly23387=)
c.70080C>A (p.Gly23360=)
c.51843C>A (p.Gly17281=)
c.41697C>A (p.Gly13899=)
2g.178567185C>ACA349600478TTN,TTN-AS1c.71243G>T (p.Gly23748Val)
c.52328G>T (p.Gly17443Val)
c.52127G>T (p.Gly17376Val)
c.51752G>T (p.Gly17251Val)
c.78947G>T (p.Gly26316Val)
c.74024G>T (p.Gly24675Val)
n.447-4115C>A
n.2044-15387C>A
c.78044G>T (p.Gly26015Val)
c.51938G>T (p.Gly17313Val)
c.51797G>T (p.Gly17266Val)
c.77840G>T (p.Gly25947Val)
c.73238G>T (p.Gly24413Val)
c.73235G>T (p.Gly24412Val)
c.70277G>T (p.Gly23426Val)
c.51893G>T (p.Gly17298Val)
c.73388G>T (p.Gly24463Val)
c.73385G>T (p.Gly24462Val)
c.72818G>T (p.Gly24273Val)
c.70160G>T (p.Gly23387Val)
c.70079G>T (p.Gly23360Val)
c.51842G>T (p.Gly17281Val)
c.41696G>T (p.Gly13899Val)
2g.178567185C>GCA349600480TTN,TTN-AS1c.71243G>C (p.Gly23748Ala)
c.52328G>C (p.Gly17443Ala)
c.52127G>C (p.Gly17376Ala)
c.51752G>C (p.Gly17251Ala)
c.78947G>C (p.Gly26316Ala)
c.74024G>C (p.Gly24675Ala)
n.447-4115C>G
n.2044-15387C>G
c.78044G>C (p.Gly26015Ala)
c.51938G>C (p.Gly17313Ala)
c.51797G>C (p.Gly17266Ala)
c.77840G>C (p.Gly25947Ala)
c.73238G>C (p.Gly24413Ala)
c.73235G>C (p.Gly24412Ala)
c.70277G>C (p.Gly23426Ala)
c.51893G>C (p.Gly17298Ala)
c.73388G>C (p.Gly24463Ala)
c.73385G>C (p.Gly24462Ala)
c.72818G>C (p.Gly24273Ala)
c.70160G>C (p.Gly23387Ala)
c.70079G>C (p.Gly23360Ala)
c.51842G>C (p.Gly17281Ala)
c.41696G>C (p.Gly13899Ala)
2g.178567185C>TCA349600482TTN,TTN-AS1c.71243G>A (p.Gly23748Asp)
c.52328G>A (p.Gly17443Asp)
c.52127G>A (p.Gly17376Asp)
c.51752G>A (p.Gly17251Asp)
c.78947G>A (p.Gly26316Asp)
c.74024G>A (p.Gly24675Asp)
n.447-4115C>T
n.2044-15387C>T
c.78044G>A (p.Gly26015Asp)
c.51938G>A (p.Gly17313Asp)
c.51797G>A (p.Gly17266Asp)
c.77840G>A (p.Gly25947Asp)
c.73238G>A (p.Gly24413Asp)
c.73235G>A (p.Gly24412Asp)
c.70277G>A (p.Gly23426Asp)
c.51893G>A (p.Gly17298Asp)
c.73388G>A (p.Gly24463Asp)
c.73385G>A (p.Gly24462Asp)
c.72818G>A (p.Gly24273Asp)
c.70160G>A (p.Gly23387Asp)
c.70079G>A (p.Gly23360Asp)
c.51842G>A (p.Gly17281Asp)
c.41696G>A (p.Gly13899Asp)
 gnomAD v4
2g.178567186dupCA658796027TTN,TTN-AS1c.71243dup (p.Ser23749GlnfsTer2)
c.52328dup (p.Ser17444GlnfsTer2)
c.52127dup (p.Ser17377GlnfsTer2)
c.51752dup (p.Ser17252GlnfsTer2)
c.78947dup (p.Ser26317GlnfsTer2)
c.74024dup (p.Ser24676GlnfsTer2)
n.447-4114dup
n.2044-15386dup
c.78044dup (p.Ser26016GlnfsTer2)
c.51938dup (p.Ser17314GlnfsTer2)
c.51797dup (p.Ser17267GlnfsTer2)
c.77840dup (p.Ser25948GlnfsTer2)
c.73238dup (p.Ser24414GlnfsTer2)
c.73235dup (p.Ser24413GlnfsTer2)
c.70277dup (p.Ser23427GlnfsTer2)
c.51893dup (p.Ser17299GlnfsTer2)
c.73388dup (p.Ser24464GlnfsTer2)
c.73385dup (p.Ser24463GlnfsTer2)
c.72818dup (p.Ser24274GlnfsTer2)
c.70160dup (p.Ser23388GlnfsTer2)
c.70079dup (p.Ser23361GlnfsTer2)
c.51842dup (p.Ser17282GlnfsTer2)
c.41696dup (p.Ser13900GlnfsTer2)
 ClinVar dbSNP
2g.178567188_178567190delCA2662129139TTN,TTN-AS1c.71241_71243del (p.Gly23748del)
c.52326_52328del (p.Gly17443del)
c.52125_52127del (p.Gly17376del)
c.51750_51752del (p.Gly17251del)
c.78945_78947del (p.Gly26316del)
c.74022_74024del (p.Gly24675del)
n.447-4112_447-4110del
n.2044-15384_2044-15382del
c.78042_78044del (p.Gly26015del)
c.51936_51938del (p.Gly17313del)
c.51795_51797del (p.Gly17266del)
c.77838_77840del (p.Gly25947del)
c.73236_73238del (p.Gly24413del)
c.73233_73235del (p.Gly24412del)
c.70275_70277del (p.Gly23426del)
c.51891_51893del (p.Gly17298del)
c.73386_73388del (p.Gly24463del)
c.73383_73385del (p.Gly24462del)
c.72816_72818del (p.Gly24273del)
c.70158_70160del (p.Gly23387del)
c.70077_70079del (p.Gly23360del)
c.51840_51842del (p.Gly17281del)
c.41694_41696del (p.Gly13899del)
 gnomAD v4
2g.178567186C>ACA349600484TTN,TTN-AS1c.71242G>T (p.Gly23748Cys)
c.52327G>T (p.Gly17443Cys)
c.52126G>T (p.Gly17376Cys)
c.51751G>T (p.Gly17251Cys)
c.78946G>T (p.Gly26316Cys)
c.74023G>T (p.Gly24675Cys)
n.447-4114C>A
n.2044-15386C>A
c.78043G>T (p.Gly26015Cys)
c.51937G>T (p.Gly17313Cys)
c.51796G>T (p.Gly17266Cys)
c.77839G>T (p.Gly25947Cys)
c.73237G>T (p.Gly24413Cys)
c.73234G>T (p.Gly24412Cys)
c.70276G>T (p.Gly23426Cys)
c.51892G>T (p.Gly17298Cys)
c.73387G>T (p.Gly24463Cys)
c.73384G>T (p.Gly24462Cys)
c.72817G>T (p.Gly24273Cys)
c.70159G>T (p.Gly23387Cys)
c.70078G>T (p.Gly23360Cys)
c.51841G>T (p.Gly17281Cys)
c.41695G>T (p.Gly13899Cys)
2g.178567186C>GCA349600486TTN,TTN-AS1c.71242G>C (p.Gly23748Arg)
c.52327G>C (p.Gly17443Arg)
c.52126G>C (p.Gly17376Arg)
c.51751G>C (p.Gly17251Arg)
c.78946G>C (p.Gly26316Arg)
c.74023G>C (p.Gly24675Arg)
n.447-4114C>G
n.2044-15386C>G
c.78043G>C (p.Gly26015Arg)
c.51937G>C (p.Gly17313Arg)
c.51796G>C (p.Gly17266Arg)
c.77839G>C (p.Gly25947Arg)
c.73237G>C (p.Gly24413Arg)
c.73234G>C (p.Gly24412Arg)
c.70276G>C (p.Gly23426Arg)
c.51892G>C (p.Gly17298Arg)
c.73387G>C (p.Gly24463Arg)
c.73384G>C (p.Gly24462Arg)
c.72817G>C (p.Gly24273Arg)
c.70159G>C (p.Gly23387Arg)
c.70078G>C (p.Gly23360Arg)
c.51841G>C (p.Gly17281Arg)
c.41695G>C (p.Gly13899Arg)
2g.178567186C>TCA349600487TTN,TTN-AS1c.71242G>A (p.Gly23748Ser)
c.52327G>A (p.Gly17443Ser)
c.52126G>A (p.Gly17376Ser)
c.51751G>A (p.Gly17251Ser)
c.78946G>A (p.Gly26316Ser)
c.74023G>A (p.Gly24675Ser)
n.447-4114C>T
n.2044-15386C>T
c.78043G>A (p.Gly26015Ser)
c.51937G>A (p.Gly17313Ser)
c.51796G>A (p.Gly17266Ser)
c.77839G>A (p.Gly25947Ser)
c.73237G>A (p.Gly24413Ser)
c.73234G>A (p.Gly24412Ser)
c.70276G>A (p.Gly23426Ser)
c.51892G>A (p.Gly17298Ser)
c.73387G>A (p.Gly24463Ser)
c.73384G>A (p.Gly24462Ser)
c.72817G>A (p.Gly24273Ser)
c.70159G>A (p.Gly23387Ser)
c.70078G>A (p.Gly23360Ser)
c.51841G>A (p.Gly17281Ser)
c.41695G>A (p.Gly13899Ser)
2g.178567187A=CA1310529822TTN,TTN-AS1c.71241T= (p.Gly23747=)
c.52326T= (p.Gly17442=)
c.52125T= (p.Gly17375=)
c.51750T= (p.Gly17250=)
c.78945T= (p.Gly26315=)
c.74022T= (p.Gly24674=)
n.447-4113A=
n.2044-15385A=
c.78042T= (p.Gly26014=)
c.51936T= (p.Gly17312=)
c.51795T= (p.Gly17265=)
c.77838T= (p.Gly25946=)
c.73236T= (p.Gly24412=)
c.73233T= (p.Gly24411=)
c.70275T= (p.Gly23425=)
c.51891T= (p.Gly17297=)
c.73386T= (p.Gly24462=)
c.73383T= (p.Gly24461=)
c.72816T= (p.Gly24272=)
c.70158T= (p.Gly23386=)
c.70077T= (p.Gly23359=)
c.51840T= (p.Gly17280=)
c.41694T= (p.Gly13898=)
2g.178567187A>CCA430252826TTN,TTN-AS1c.71241T>G (p.Gly23747=)
c.52326T>G (p.Gly17442=)
c.52125T>G (p.Gly17375=)
c.51750T>G (p.Gly17250=)
c.78945T>G (p.Gly26315=)
c.74022T>G (p.Gly24674=)
n.447-4113A>C
n.2044-15385A>C
c.78042T>G (p.Gly26014=)
c.51936T>G (p.Gly17312=)
c.51795T>G (p.Gly17265=)
c.77838T>G (p.Gly25946=)
c.73236T>G (p.Gly24412=)
c.73233T>G (p.Gly24411=)
c.70275T>G (p.Gly23425=)
c.51891T>G (p.Gly17297=)
c.73386T>G (p.Gly24462=)
c.73383T>G (p.Gly24461=)
c.72816T>G (p.Gly24272=)
c.70158T>G (p.Gly23386=)
c.70077T>G (p.Gly23359=)
c.51840T>G (p.Gly17280=)
c.41694T>G (p.Gly13898=)
2g.178567187A>GCA430252827TTN,TTN-AS1c.71241T>C (p.Gly23747=)
c.52326T>C (p.Gly17442=)
c.52125T>C (p.Gly17375=)
c.51750T>C (p.Gly17250=)
c.78945T>C (p.Gly26315=)
c.74022T>C (p.Gly24674=)
n.447-4113A>G
n.2044-15385A>G
c.78042T>C (p.Gly26014=)
c.51936T>C (p.Gly17312=)
c.51795T>C (p.Gly17265=)
c.77838T>C (p.Gly25946=)
c.73236T>C (p.Gly24412=)
c.73233T>C (p.Gly24411=)
c.70275T>C (p.Gly23425=)
c.51891T>C (p.Gly17297=)
c.73386T>C (p.Gly24462=)
c.73383T>C (p.Gly24461=)
c.72816T>C (p.Gly24272=)
c.70158T>C (p.Gly23386=)
c.70077T>C (p.Gly23359=)
c.51840T>C (p.Gly17280=)
c.41694T>C (p.Gly13898=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.178567187A>TCA430252828TTN,TTN-AS1c.71241T>A (p.Gly23747=)
c.52326T>A (p.Gly17442=)
c.52125T>A (p.Gly17375=)
c.51750T>A (p.Gly17250=)
c.78945T>A (p.Gly26315=)
c.74022T>A (p.Gly24674=)
n.447-4113A>T
n.2044-15385A>T
c.78042T>A (p.Gly26014=)
c.51936T>A (p.Gly17312=)
c.51795T>A (p.Gly17265=)
c.77838T>A (p.Gly25946=)
c.73236T>A (p.Gly24412=)
c.73233T>A (p.Gly24411=)
c.70275T>A (p.Gly23425=)
c.51891T>A (p.Gly17297=)
c.73386T>A (p.Gly24462=)
c.73383T>A (p.Gly24461=)
c.72816T>A (p.Gly24272=)
c.70158T>A (p.Gly23386=)
c.70077T>A (p.Gly23359=)
c.51840T>A (p.Gly17280=)
c.41694T>A (p.Gly13898=)
2g.178567188C>ACA349600490TTN,TTN-AS1c.71240G>T (p.Gly23747Val)
c.52325G>T (p.Gly17442Val)
c.52124G>T (p.Gly17375Val)
c.51749G>T (p.Gly17250Val)
c.78944G>T (p.Gly26315Val)
c.74021G>T (p.Gly24674Val)
n.447-4112C>A
n.2044-15384C>A
c.78041G>T (p.Gly26014Val)
c.51935G>T (p.Gly17312Val)
c.51794G>T (p.Gly17265Val)
c.77837G>T (p.Gly25946Val)
c.73235G>T (p.Gly24412Val)
c.73232G>T (p.Gly24411Val)
c.70274G>T (p.Gly23425Val)
c.51890G>T (p.Gly17297Val)
c.73385G>T (p.Gly24462Val)
c.73382G>T (p.Gly24461Val)
c.72815G>T (p.Gly24272Val)
c.70157G>T (p.Gly23386Val)
c.70076G>T (p.Gly23359Val)
c.51839G>T (p.Gly17280Val)
c.41693G>T (p.Gly13898Val)
2g.178567188C=CA1310529823TTN,TTN-AS1c.71240G= (p.Gly23747=)
c.52325G= (p.Gly17442=)
c.52124G= (p.Gly17375=)
c.51749G= (p.Gly17250=)
c.78944G= (p.Gly26315=)
c.74021G= (p.Gly24674=)
n.447-4112C=
n.2044-15384C=
c.78041G= (p.Gly26014=)
c.51935G= (p.Gly17312=)
c.51794G= (p.Gly17265=)
c.77837G= (p.Gly25946=)
c.73235G= (p.Gly24412=)
c.73232G= (p.Gly24411=)
c.70274G= (p.Gly23425=)
c.51890G= (p.Gly17297=)
c.73385G= (p.Gly24462=)
c.73382G= (p.Gly24461=)
c.72815G= (p.Gly24272=)
c.70157G= (p.Gly23386=)
c.70076G= (p.Gly23359=)
c.51839G= (p.Gly17280=)
c.41693G= (p.Gly13898=)
2g.178567188C>GCA10587475TTN,TTN-AS1c.71240G>C (p.Gly23747Ala)
c.52325G>C (p.Gly17442Ala)
c.52124G>C (p.Gly17375Ala)
c.51749G>C (p.Gly17250Ala)
c.78944G>C (p.Gly26315Ala)
c.74021G>C (p.Gly24674Ala)
n.447-4112C>G
n.2044-15384C>G
c.78041G>C (p.Gly26014Ala)
c.51935G>C (p.Gly17312Ala)
c.51794G>C (p.Gly17265Ala)
c.77837G>C (p.Gly25946Ala)
c.73235G>C (p.Gly24412Ala)
c.73232G>C (p.Gly24411Ala)
c.70274G>C (p.Gly23425Ala)
c.51890G>C (p.Gly17297Ala)
c.73385G>C (p.Gly24462Ala)
c.73382G>C (p.Gly24461Ala)
c.72815G>C (p.Gly24272Ala)
c.70157G>C (p.Gly23386Ala)
c.70076G>C (p.Gly23359Ala)
c.51839G>C (p.Gly17280Ala)
c.41693G>C (p.Gly13898Ala)
 ClinVar dbSNP
2g.178567188C>TCA349600491TTN,TTN-AS1c.71240G>A (p.Gly23747Asp)
c.52325G>A (p.Gly17442Asp)
c.52124G>A (p.Gly17375Asp)
c.51749G>A (p.Gly17250Asp)
c.78944G>A (p.Gly26315Asp)
c.74021G>A (p.Gly24674Asp)
n.447-4112C>T
n.2044-15384C>T
c.78041G>A (p.Gly26014Asp)
c.51935G>A (p.Gly17312Asp)
c.51794G>A (p.Gly17265Asp)
c.77837G>A (p.Gly25946Asp)
c.73235G>A (p.Gly24412Asp)
c.73232G>A (p.Gly24411Asp)
c.70274G>A (p.Gly23425Asp)
c.51890G>A (p.Gly17297Asp)
c.73385G>A (p.Gly24462Asp)
c.73382G>A (p.Gly24461Asp)
c.72815G>A (p.Gly24272Asp)
c.70157G>A (p.Gly23386Asp)
c.70076G>A (p.Gly23359Asp)
c.51839G>A (p.Gly17280Asp)
c.41693G>A (p.Gly13898Asp)
2g.178567189C>ACA349600496TTN,TTN-AS1c.71239G>T (p.Gly23747Cys)
c.52324G>T (p.Gly17442Cys)
c.52123G>T (p.Gly17375Cys)
c.51748G>T (p.Gly17250Cys)
c.78943G>T (p.Gly26315Cys)
c.74020G>T (p.Gly24674Cys)
n.447-4111C>A
n.2044-15383C>A
c.78040G>T (p.Gly26014Cys)
c.51934G>T (p.Gly17312Cys)
c.51793G>T (p.Gly17265Cys)
c.77836G>T (p.Gly25946Cys)
c.73234G>T (p.Gly24412Cys)
c.73231G>T (p.Gly24411Cys)
c.70273G>T (p.Gly23425Cys)
c.51889G>T (p.Gly17297Cys)
c.73384G>T (p.Gly24462Cys)
c.73381G>T (p.Gly24461Cys)
c.72814G>T (p.Gly24272Cys)
c.70156G>T (p.Gly23386Cys)
c.70075G>T (p.Gly23359Cys)
c.51838G>T (p.Gly17280Cys)
c.41692G>T (p.Gly13898Cys)
2g.178567189C>GCA349600498TTN,TTN-AS1c.71239G>C (p.Gly23747Arg)
c.52324G>C (p.Gly17442Arg)
c.52123G>C (p.Gly17375Arg)
c.51748G>C (p.Gly17250Arg)
c.78943G>C (p.Gly26315Arg)
c.74020G>C (p.Gly24674Arg)
n.447-4111C>G
n.2044-15383C>G
c.78040G>C (p.Gly26014Arg)
c.51934G>C (p.Gly17312Arg)
c.51793G>C (p.Gly17265Arg)
c.77836G>C (p.Gly25946Arg)
c.73234G>C (p.Gly24412Arg)
c.73231G>C (p.Gly24411Arg)
c.70273G>C (p.Gly23425Arg)
c.51889G>C (p.Gly17297Arg)
c.73384G>C (p.Gly24462Arg)
c.73381G>C (p.Gly24461Arg)
c.72814G>C (p.Gly24272Arg)
c.70156G>C (p.Gly23386Arg)
c.70075G>C (p.Gly23359Arg)
c.51838G>C (p.Gly17280Arg)
c.41692G>C (p.Gly13898Arg)
2g.178567189C>TCA349600495TTN,TTN-AS1c.71239G>A (p.Gly23747Ser)
c.52324G>A (p.Gly17442Ser)
c.52123G>A (p.Gly17375Ser)
c.51748G>A (p.Gly17250Ser)
c.78943G>A (p.Gly26315Ser)
c.74020G>A (p.Gly24674Ser)
n.447-4111C>T
n.2044-15383C>T
c.78040G>A (p.Gly26014Ser)
c.51934G>A (p.Gly17312Ser)
c.51793G>A (p.Gly17265Ser)
c.77836G>A (p.Gly25946Ser)
c.73234G>A (p.Gly24412Ser)
c.73231G>A (p.Gly24411Ser)
c.70273G>A (p.Gly23425Ser)
c.51889G>A (p.Gly17297Ser)
c.73384G>A (p.Gly24462Ser)
c.73381G>A (p.Gly24461Ser)
c.72814G>A (p.Gly24272Ser)
c.70156G>A (p.Gly23386Ser)
c.70075G>A (p.Gly23359Ser)
c.51838G>A (p.Gly17280Ser)
c.41692G>A (p.Gly13898Ser)
 COSMIC COSMIC COSMIC COSMIC
2g.178567190A=CA1310529824TTN,TTN-AS1c.71238T= (p.Asp23746=)
c.52323T= (p.Asp17441=)
c.52122T= (p.Asp17374=)
c.51747T= (p.Asp17249=)
c.78942T= (p.Asp26314=)
c.74019T= (p.Asp24673=)
n.447-4110A=
n.2044-15382A=
c.78039T= (p.Asp26013=)
c.51933T= (p.Asp17311=)
c.51792T= (p.Asp17264=)
c.77835T= (p.Asp25945=)
c.73233T= (p.Asp24411=)
c.73230T= (p.Asp24410=)
c.70272T= (p.Asp23424=)
c.51888T= (p.Asp17296=)
c.73383T= (p.Asp24461=)
c.73380T= (p.Asp24460=)
c.72813T= (p.Asp24271=)
c.70155T= (p.Asp23385=)
c.70074T= (p.Asp23358=)
c.51837T= (p.Asp17279=)
c.41691T= (p.Asp13897=)
2g.178567190A>CCA349600500TTN,TTN-AS1c.71238T>G (p.Asp23746Glu)
c.52323T>G (p.Asp17441Glu)
c.52122T>G (p.Asp17374Glu)
c.51747T>G (p.Asp17249Glu)
c.78942T>G (p.Asp26314Glu)
c.74019T>G (p.Asp24673Glu)
n.447-4110A>C
n.2044-15382A>C
c.78039T>G (p.Asp26013Glu)
c.51933T>G (p.Asp17311Glu)
c.51792T>G (p.Asp17264Glu)
c.77835T>G (p.Asp25945Glu)
c.73233T>G (p.Asp24411Glu)
c.73230T>G (p.Asp24410Glu)
c.70272T>G (p.Asp23424Glu)
c.51888T>G (p.Asp17296Glu)
c.73383T>G (p.Asp24461Glu)
c.73380T>G (p.Asp24460Glu)
c.72813T>G (p.Asp24271Glu)
c.70155T>G (p.Asp23385Glu)
c.70074T>G (p.Asp23358Glu)
c.51837T>G (p.Asp17279Glu)
c.41691T>G (p.Asp13897Glu)
2g.178567190A>GCA1989548TTN,TTN-AS1c.71238T>C (p.Asp23746=)
c.52323T>C (p.Asp17441=)
c.52122T>C (p.Asp17374=)
c.51747T>C (p.Asp17249=)
c.78942T>C (p.Asp26314=)
c.74019T>C (p.Asp24673=)
n.447-4110A>G
n.2044-15382A>G
c.78039T>C (p.Asp26013=)
c.51933T>C (p.Asp17311=)
c.51792T>C (p.Asp17264=)
c.77835T>C (p.Asp25945=)
c.73233T>C (p.Asp24411=)
c.73230T>C (p.Asp24410=)
c.70272T>C (p.Asp23424=)
c.51888T>C (p.Asp17296=)
c.73383T>C (p.Asp24461=)
c.73380T>C (p.Asp24460=)
c.72813T>C (p.Asp24271=)
c.70155T>C (p.Asp23385=)
c.70074T>C (p.Asp23358=)
c.51837T>C (p.Asp17279=)
c.41691T>C (p.Asp13897=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178567190A>TCA349600501TTN,TTN-AS1c.71238T>A (p.Asp23746Glu)
c.52323T>A (p.Asp17441Glu)
c.52122T>A (p.Asp17374Glu)
c.51747T>A (p.Asp17249Glu)
c.78942T>A (p.Asp26314Glu)
c.74019T>A (p.Asp24673Glu)
n.447-4110A>T
n.2044-15382A>T
c.78039T>A (p.Asp26013Glu)
c.51933T>A (p.Asp17311Glu)
c.51792T>A (p.Asp17264Glu)
c.77835T>A (p.Asp25945Glu)
c.73233T>A (p.Asp24411Glu)
c.73230T>A (p.Asp24410Glu)
c.70272T>A (p.Asp23424Glu)
c.51888T>A (p.Asp17296Glu)
c.73383T>A (p.Asp24461Glu)
c.73380T>A (p.Asp24460Glu)
c.72813T>A (p.Asp24271Glu)
c.70155T>A (p.Asp23385Glu)
c.70074T>A (p.Asp23358Glu)
c.51837T>A (p.Asp17279Glu)
c.41691T>A (p.Asp13897Glu)
2g.178567191T>ACA349600504TTN,TTN-AS1c.71237A>T (p.Asp23746Val)
c.52322A>T (p.Asp17441Val)
c.52121A>T (p.Asp17374Val)
c.51746A>T (p.Asp17249Val)
c.78941A>T (p.Asp26314Val)
c.74018A>T (p.Asp24673Val)
n.447-4109T>A
n.2044-15381T>A
c.78038A>T (p.Asp26013Val)
c.51932A>T (p.Asp17311Val)
c.51791A>T (p.Asp17264Val)
c.77834A>T (p.Asp25945Val)
c.73232A>T (p.Asp24411Val)
c.73229A>T (p.Asp24410Val)
c.70271A>T (p.Asp23424Val)
c.51887A>T (p.Asp17296Val)
c.73382A>T (p.Asp24461Val)
c.73379A>T (p.Asp24460Val)
c.72812A>T (p.Asp24271Val)
c.70154A>T (p.Asp23385Val)
c.70073A>T (p.Asp23358Val)
c.51836A>T (p.Asp17279Val)
c.41690A>T (p.Asp13897Val)
2g.178567191T>CCA349600506TTN,TTN-AS1c.71237A>G (p.Asp23746Gly)
c.52322A>G (p.Asp17441Gly)
c.52121A>G (p.Asp17374Gly)
c.51746A>G (p.Asp17249Gly)
c.78941A>G (p.Asp26314Gly)
c.74018A>G (p.Asp24673Gly)
n.447-4109T>C
n.2044-15381T>C
c.78038A>G (p.Asp26013Gly)
c.51932A>G (p.Asp17311Gly)
c.51791A>G (p.Asp17264Gly)
c.77834A>G (p.Asp25945Gly)
c.73232A>G (p.Asp24411Gly)
c.73229A>G (p.Asp24410Gly)
c.70271A>G (p.Asp23424Gly)
c.51887A>G (p.Asp17296Gly)
c.73382A>G (p.Asp24461Gly)
c.73379A>G (p.Asp24460Gly)
c.72812A>G (p.Asp24271Gly)
c.70154A>G (p.Asp23385Gly)
c.70073A>G (p.Asp23358Gly)
c.51836A>G (p.Asp17279Gly)
c.41690A>G (p.Asp13897Gly)
 dbSNP gnomAD v3 gnomAD v4
2g.178567191T>GCA349600507TTN,TTN-AS1c.71237A>C (p.Asp23746Ala)
c.52322A>C (p.Asp17441Ala)
c.52121A>C (p.Asp17374Ala)
c.51746A>C (p.Asp17249Ala)
c.78941A>C (p.Asp26314Ala)
c.74018A>C (p.Asp24673Ala)
n.447-4109T>G
n.2044-15381T>G
c.78038A>C (p.Asp26013Ala)
c.51932A>C (p.Asp17311Ala)
c.51791A>C (p.Asp17264Ala)
c.77834A>C (p.Asp25945Ala)
c.73232A>C (p.Asp24411Ala)
c.73229A>C (p.Asp24410Ala)
c.70271A>C (p.Asp23424Ala)
c.51887A>C (p.Asp17296Ala)
c.73382A>C (p.Asp24461Ala)
c.73379A>C (p.Asp24460Ala)
c.72812A>C (p.Asp24271Ala)
c.70154A>C (p.Asp23385Ala)
c.70073A>C (p.Asp23358Ala)
c.51836A>C (p.Asp17279Ala)
c.41690A>C (p.Asp13897Ala)
2g.178567191T=CA1310529825TTN,TTN-AS1c.71237A= (p.Asp23746=)
c.52322A= (p.Asp17441=)
c.52121A= (p.Asp17374=)
c.51746A= (p.Asp17249=)
c.78941A= (p.Asp26314=)
c.74018A= (p.Asp24673=)
n.447-4109T=
n.2044-15381T=
c.78038A= (p.Asp26013=)
c.51932A= (p.Asp17311=)
c.51791A= (p.Asp17264=)
c.77834A= (p.Asp25945=)
c.73232A= (p.Asp24411=)
c.73229A= (p.Asp24410=)
c.70271A= (p.Asp23424=)
c.51887A= (p.Asp17296=)
c.73382A= (p.Asp24461=)
c.73379A= (p.Asp24460=)
c.72812A= (p.Asp24271=)
c.70154A= (p.Asp23385=)
c.70073A= (p.Asp23358=)
c.51836A= (p.Asp17279=)
c.41690A= (p.Asp13897=)
2g.178567192C>ACA349600511TTN,TTN-AS1c.71236G>T (p.Asp23746Tyr)
c.52321G>T (p.Asp17441Tyr)
c.52120G>T (p.Asp17374Tyr)
c.51745G>T (p.Asp17249Tyr)
c.78940G>T (p.Asp26314Tyr)
c.74017G>T (p.Asp24673Tyr)
n.447-4108C>A
n.2044-15380C>A
c.78037G>T (p.Asp26013Tyr)
c.51931G>T (p.Asp17311Tyr)
c.51790G>T (p.Asp17264Tyr)
c.77833G>T (p.Asp25945Tyr)
c.73231G>T (p.Asp24411Tyr)
c.73228G>T (p.Asp24410Tyr)
c.70270G>T (p.Asp23424Tyr)
c.51886G>T (p.Asp17296Tyr)
c.73381G>T (p.Asp24461Tyr)
c.73378G>T (p.Asp24460Tyr)
c.72811G>T (p.Asp24271Tyr)
c.70153G>T (p.Asp23385Tyr)
c.70072G>T (p.Asp23358Tyr)
c.51835G>T (p.Asp17279Tyr)
c.41689G>T (p.Asp13897Tyr)
2g.178567192C>GCA349600509TTN,TTN-AS1c.71236G>C (p.Asp23746His)
c.52321G>C (p.Asp17441His)
c.52120G>C (p.Asp17374His)
c.51745G>C (p.Asp17249His)
c.78940G>C (p.Asp26314His)
c.74017G>C (p.Asp24673His)
n.447-4108C>G
n.2044-15380C>G
c.78037G>C (p.Asp26013His)
c.51931G>C (p.Asp17311His)
c.51790G>C (p.Asp17264His)
c.77833G>C (p.Asp25945His)
c.73231G>C (p.Asp24411His)
c.73228G>C (p.Asp24410His)
c.70270G>C (p.Asp23424His)
c.51886G>C (p.Asp17296His)
c.73381G>C (p.Asp24461His)
c.73378G>C (p.Asp24460His)
c.72811G>C (p.Asp24271His)
c.70153G>C (p.Asp23385His)
c.70072G>C (p.Asp23358His)
c.51835G>C (p.Asp17279His)
c.41689G>C (p.Asp13897His)
2g.178567192C>TCA349600510TTN,TTN-AS1c.71236G>A (p.Asp23746Asn)
c.52321G>A (p.Asp17441Asn)
c.52120G>A (p.Asp17374Asn)
c.51745G>A (p.Asp17249Asn)
c.78940G>A (p.Asp26314Asn)
c.74017G>A (p.Asp24673Asn)
n.447-4108C>T
n.2044-15380C>T
c.78037G>A (p.Asp26013Asn)
c.51931G>A (p.Asp17311Asn)
c.51790G>A (p.Asp17264Asn)
c.77833G>A (p.Asp25945Asn)
c.73231G>A (p.Asp24411Asn)
c.73228G>A (p.Asp24410Asn)
c.70270G>A (p.Asp23424Asn)
c.51886G>A (p.Asp17296Asn)
c.73381G>A (p.Asp24461Asn)
c.73378G>A (p.Asp24460Asn)
c.72811G>A (p.Asp24271Asn)
c.70153G>A (p.Asp23385Asn)
c.70072G>A (p.Asp23358Asn)
c.51835G>A (p.Asp17279Asn)
c.41689G>A (p.Asp13897Asn)
 gnomAD v4
2g.178567193T>ACA349600512TTN,TTN-AS1c.71235A>T (p.Gln23745His)
c.52320A>T (p.Gln17440His)
c.52119A>T (p.Gln17373His)
c.51744A>T (p.Gln17248His)
c.78939A>T (p.Gln26313His)
c.74016A>T (p.Gln24672His)
n.447-4107T>A
n.2044-15379T>A
c.78036A>T (p.Gln26012His)
c.51930A>T (p.Gln17310His)
c.51789A>T (p.Gln17263His)
c.77832A>T (p.Gln25944His)
c.73230A>T (p.Gln24410His)
c.73227A>T (p.Gln24409His)
c.70269A>T (p.Gln23423His)
c.51885A>T (p.Gln17295His)
c.73380A>T (p.Gln24460His)
c.73377A>T (p.Gln24459His)
c.72810A>T (p.Gln24270His)
c.70152A>T (p.Gln23384His)
c.70071A>T (p.Gln23357His)
c.51834A>T (p.Gln17278His)
c.41688A>T (p.Gln13896His)
2g.178567193T>CCA430252835TTN,TTN-AS1c.71235A>G (p.Gln23745=)
c.52320A>G (p.Gln17440=)
c.52119A>G (p.Gln17373=)
c.51744A>G (p.Gln17248=)
c.78939A>G (p.Gln26313=)
c.74016A>G (p.Gln24672=)
n.447-4107T>C
n.2044-15379T>C
c.78036A>G (p.Gln26012=)
c.51930A>G (p.Gln17310=)
c.51789A>G (p.Gln17263=)
c.77832A>G (p.Gln25944=)
c.73230A>G (p.Gln24410=)
c.73227A>G (p.Gln24409=)
c.70269A>G (p.Gln23423=)
c.51885A>G (p.Gln17295=)
c.73380A>G (p.Gln24460=)
c.73377A>G (p.Gln24459=)
c.72810A>G (p.Gln24270=)
c.70152A>G (p.Gln23384=)
c.70071A>G (p.Gln23357=)
c.51834A>G (p.Gln17278=)
c.41688A>G (p.Gln13896=)
 dbSNP gnomAD v2 gnomAD v4
2g.178567193T>GCA349600514TTN,TTN-AS1c.71235A>C (p.Gln23745His)
c.52320A>C (p.Gln17440His)
c.52119A>C (p.Gln17373His)
c.51744A>C (p.Gln17248His)
c.78939A>C (p.Gln26313His)
c.74016A>C (p.Gln24672His)
n.447-4107T>G
n.2044-15379T>G
c.78036A>C (p.Gln26012His)
c.51930A>C (p.Gln17310His)
c.51789A>C (p.Gln17263His)
c.77832A>C (p.Gln25944His)
c.73230A>C (p.Gln24410His)
c.73227A>C (p.Gln24409His)
c.70269A>C (p.Gln23423His)
c.51885A>C (p.Gln17295His)
c.73380A>C (p.Gln24460His)
c.73377A>C (p.Gln24459His)
c.72810A>C (p.Gln24270His)
c.70152A>C (p.Gln23384His)
c.70071A>C (p.Gln23357His)
c.51834A>C (p.Gln17278His)
c.41688A>C (p.Gln13896His)
2g.178567193T=CA1310529826TTN,TTN-AS1c.71235A= (p.Gln23745=)
c.52320A= (p.Gln17440=)
c.52119A= (p.Gln17373=)
c.51744A= (p.Gln17248=)
c.78939A= (p.Gln26313=)
c.74016A= (p.Gln24672=)
n.447-4107T=
n.2044-15379T=
c.78036A= (p.Gln26012=)
c.51930A= (p.Gln17310=)
c.51789A= (p.Gln17263=)
c.77832A= (p.Gln25944=)
c.73230A= (p.Gln24410=)
c.73227A= (p.Gln24409=)
c.70269A= (p.Gln23423=)
c.51885A= (p.Gln17295=)
c.73380A= (p.Gln24460=)
c.73377A= (p.Gln24459=)
c.72810A= (p.Gln24270=)
c.70152A= (p.Gln23384=)
c.70071A= (p.Gln23357=)
c.51834A= (p.Gln17278=)
c.41688A= (p.Gln13896=)
2g.178567194T>ACA349600515TTN,TTN-AS1c.71234A>T (p.Gln23745Leu)
c.52319A>T (p.Gln17440Leu)
c.52118A>T (p.Gln17373Leu)
c.51743A>T (p.Gln17248Leu)
c.78938A>T (p.Gln26313Leu)
c.74015A>T (p.Gln24672Leu)
n.447-4106T>A
n.2044-15378T>A
c.78035A>T (p.Gln26012Leu)
c.51929A>T (p.Gln17310Leu)
c.51788A>T (p.Gln17263Leu)
c.77831A>T (p.Gln25944Leu)
c.73229A>T (p.Gln24410Leu)
c.73226A>T (p.Gln24409Leu)
c.70268A>T (p.Gln23423Leu)
c.51884A>T (p.Gln17295Leu)
c.73379A>T (p.Gln24460Leu)
c.73376A>T (p.Gln24459Leu)
c.72809A>T (p.Gln24270Leu)
c.70151A>T (p.Gln23384Leu)
c.70070A>T (p.Gln23357Leu)
c.51833A>T (p.Gln17278Leu)
c.41687A>T (p.Gln13896Leu)
2g.178567194T>CCA349600516TTN,TTN-AS1c.71234A>G (p.Gln23745Arg)
c.52319A>G (p.Gln17440Arg)
c.52118A>G (p.Gln17373Arg)
c.51743A>G (p.Gln17248Arg)
c.78938A>G (p.Gln26313Arg)
c.74015A>G (p.Gln24672Arg)
n.447-4106T>C
n.2044-15378T>C
c.78035A>G (p.Gln26012Arg)
c.51929A>G (p.Gln17310Arg)
c.51788A>G (p.Gln17263Arg)
c.77831A>G (p.Gln25944Arg)
c.73229A>G (p.Gln24410Arg)
c.73226A>G (p.Gln24409Arg)
c.70268A>G (p.Gln23423Arg)
c.51884A>G (p.Gln17295Arg)
c.73379A>G (p.Gln24460Arg)
c.73376A>G (p.Gln24459Arg)
c.72809A>G (p.Gln24270Arg)
c.70151A>G (p.Gln23384Arg)
c.70070A>G (p.Gln23357Arg)
c.51833A>G (p.Gln17278Arg)
c.41687A>G (p.Gln13896Arg)
2g.178567194T>GCA349600519TTN,TTN-AS1c.71234A>C (p.Gln23745Pro)
c.52319A>C (p.Gln17440Pro)
c.52118A>C (p.Gln17373Pro)
c.51743A>C (p.Gln17248Pro)
c.78938A>C (p.Gln26313Pro)
c.74015A>C (p.Gln24672Pro)
n.447-4106T>G
n.2044-15378T>G
c.78035A>C (p.Gln26012Pro)
c.51929A>C (p.Gln17310Pro)
c.51788A>C (p.Gln17263Pro)
c.77831A>C (p.Gln25944Pro)
c.73229A>C (p.Gln24410Pro)
c.73226A>C (p.Gln24409Pro)
c.70268A>C (p.Gln23423Pro)
c.51884A>C (p.Gln17295Pro)
c.73379A>C (p.Gln24460Pro)
c.73376A>C (p.Gln24459Pro)
c.72809A>C (p.Gln24270Pro)
c.70151A>C (p.Gln23384Pro)
c.70070A>C (p.Gln23357Pro)
c.51833A>C (p.Gln17278Pro)
c.41687A>C (p.Gln13896Pro)
2g.178567195G>ACA349600521TTN,TTN-AS1c.71233C>T (p.Gln23745Ter)
c.52318C>T (p.Gln17440Ter)
c.52117C>T (p.Gln17373Ter)
c.51742C>T (p.Gln17248Ter)
c.78937C>T (p.Gln26313Ter)
c.74014C>T (p.Gln24672Ter)
n.447-4105G>A
n.2044-15377G>A
c.78034C>T (p.Gln26012Ter)
c.51928C>T (p.Gln17310Ter)
c.51787C>T (p.Gln17263Ter)
c.77830C>T (p.Gln25944Ter)
c.73228C>T (p.Gln24410Ter)
c.73225C>T (p.Gln24409Ter)
c.70267C>T (p.Gln23423Ter)
c.51883C>T (p.Gln17295Ter)
c.73378C>T (p.Gln24460Ter)
c.73375C>T (p.Gln24459Ter)
c.72808C>T (p.Gln24270Ter)
c.70150C>T (p.Gln23384Ter)
c.70069C>T (p.Gln23357Ter)
c.51832C>T (p.Gln17278Ter)
c.41686C>T (p.Gln13896Ter)
2g.178567195G>CCA349600524TTN,TTN-AS1c.71233C>G (p.Gln23745Glu)
c.52318C>G (p.Gln17440Glu)
c.52117C>G (p.Gln17373Glu)
c.51742C>G (p.Gln17248Glu)
c.78937C>G (p.Gln26313Glu)
c.74014C>G (p.Gln24672Glu)
n.447-4105G>C
n.2044-15377G>C
c.78034C>G (p.Gln26012Glu)
c.51928C>G (p.Gln17310Glu)
c.51787C>G (p.Gln17263Glu)
c.77830C>G (p.Gln25944Glu)
c.73228C>G (p.Gln24410Glu)
c.73225C>G (p.Gln24409Glu)
c.70267C>G (p.Gln23423Glu)
c.51883C>G (p.Gln17295Glu)
c.73378C>G (p.Gln24460Glu)
c.73375C>G (p.Gln24459Glu)
c.72808C>G (p.Gln24270Glu)
c.70150C>G (p.Gln23384Glu)
c.70069C>G (p.Gln23357Glu)
c.51832C>G (p.Gln17278Glu)
c.41686C>G (p.Gln13896Glu)
2g.178567195G>TCA349600522TTN,TTN-AS1c.71233C>A (p.Gln23745Lys)
c.52318C>A (p.Gln17440Lys)
c.52117C>A (p.Gln17373Lys)
c.51742C>A (p.Gln17248Lys)
c.78937C>A (p.Gln26313Lys)
c.74014C>A (p.Gln24672Lys)
n.447-4105G>T
n.2044-15377G>T
c.78034C>A (p.Gln26012Lys)
c.51928C>A (p.Gln17310Lys)
c.51787C>A (p.Gln17263Lys)
c.77830C>A (p.Gln25944Lys)
c.73228C>A (p.Gln24410Lys)
c.73225C>A (p.Gln24409Lys)
c.70267C>A (p.Gln23423Lys)
c.51883C>A (p.Gln17295Lys)
c.73378C>A (p.Gln24460Lys)
c.73375C>A (p.Gln24459Lys)
c.72808C>A (p.Gln24270Lys)
c.70150C>A (p.Gln23384Lys)
c.70069C>A (p.Gln23357Lys)
c.51832C>A (p.Gln17278Lys)
c.41686C>A (p.Gln13896Lys)
2g.178567196A>CCA430252840TTN,TTN-AS1c.71232T>G (p.Leu23744=)
c.52317T>G (p.Leu17439=)
c.52116T>G (p.Leu17372=)
c.51741T>G (p.Leu17247=)
c.78936T>G (p.Leu26312=)
c.74013T>G (p.Leu24671=)
n.447-4104A>C
n.2044-15376A>C
c.78033T>G (p.Leu26011=)
c.51927T>G (p.Leu17309=)
c.51786T>G (p.Leu17262=)
c.77829T>G (p.Leu25943=)
c.73227T>G (p.Leu24409=)
c.73224T>G (p.Leu24408=)
c.70266T>G (p.Leu23422=)
c.51882T>G (p.Leu17294=)
c.73377T>G (p.Leu24459=)
c.73374T>G (p.Leu24458=)
c.72807T>G (p.Leu24269=)
c.70149T>G (p.Leu23383=)
c.70068T>G (p.Leu23356=)
c.51831T>G (p.Leu17277=)
c.41685T>G (p.Leu13895=)
2g.178567196A>GCA430252841TTN,TTN-AS1c.71232T>C (p.Leu23744=)
c.52317T>C (p.Leu17439=)
c.52116T>C (p.Leu17372=)
c.51741T>C (p.Leu17247=)
c.78936T>C (p.Leu26312=)
c.74013T>C (p.Leu24671=)
n.447-4104A>G
n.2044-15376A>G
c.78033T>C (p.Leu26011=)
c.51927T>C (p.Leu17309=)
c.51786T>C (p.Leu17262=)
c.77829T>C (p.Leu25943=)
c.73227T>C (p.Leu24409=)
c.73224T>C (p.Leu24408=)
c.70266T>C (p.Leu23422=)
c.51882T>C (p.Leu17294=)
c.73377T>C (p.Leu24459=)
c.73374T>C (p.Leu24458=)
c.72807T>C (p.Leu24269=)
c.70149T>C (p.Leu23383=)
c.70068T>C (p.Leu23356=)
c.51831T>C (p.Leu17277=)
c.41685T>C (p.Leu13895=)
2g.178567196A>TCA430252842TTN,TTN-AS1c.71232T>A (p.Leu23744=)
c.52317T>A (p.Leu17439=)
c.52116T>A (p.Leu17372=)
c.51741T>A (p.Leu17247=)
c.78936T>A (p.Leu26312=)
c.74013T>A (p.Leu24671=)
n.447-4104A>T
n.2044-15376A>T
c.78033T>A (p.Leu26011=)
c.51927T>A (p.Leu17309=)
c.51786T>A (p.Leu17262=)
c.77829T>A (p.Leu25943=)
c.73227T>A (p.Leu24409=)
c.73224T>A (p.Leu24408=)
c.70266T>A (p.Leu23422=)
c.51882T>A (p.Leu17294=)
c.73377T>A (p.Leu24459=)
c.73374T>A (p.Leu24458=)
c.72807T>A (p.Leu24269=)
c.70149T>A (p.Leu23383=)
c.70068T>A (p.Leu23356=)
c.51831T>A (p.Leu17277=)
c.41685T>A (p.Leu13895=)
 gnomAD v4

Number of alleles fetched