Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.178571051C>ACA349629132TTN,TTN-AS1c.67377G>T (p.Trp22459Cys)
c.48462G>T (p.Trp16154Cys)
c.48261G>T (p.Trp16087Cys)
c.47886G>T (p.Trp15962Cys)
c.75081G>T (p.Trp25027Cys)
c.70158G>T (p.Trp23386Cys)
n.447-249C>A
n.2044-11521C>A
c.74178G>T (p.Trp24726Cys)
c.48072G>T (p.Trp16024Cys)
c.47931G>T (p.Trp15977Cys)
c.73974G>T (p.Trp24658Cys)
c.69372G>T (p.Trp23124Cys)
c.69369G>T (p.Trp23123Cys)
c.66411G>T (p.Trp22137Cys)
c.48027G>T (p.Trp16009Cys)
c.69522G>T (p.Trp23174Cys)
c.69519G>T (p.Trp23173Cys)
c.68952G>T (p.Trp22984Cys)
c.66294G>T (p.Trp22098Cys)
c.66213G>T (p.Trp22071Cys)
c.47976G>T (p.Trp15992Cys)
c.37830G>T (p.Trp12610Cys)
2g.178571051C=CA1310531364TTN,TTN-AS1c.67377G= (p.Trp22459=)
c.48462G= (p.Trp16154=)
c.48261G= (p.Trp16087=)
c.47886G= (p.Trp15962=)
c.75081G= (p.Trp25027=)
c.70158G= (p.Trp23386=)
n.447-249C=
n.2044-11521C=
c.74178G= (p.Trp24726=)
c.48072G= (p.Trp16024=)
c.47931G= (p.Trp15977=)
c.73974G= (p.Trp24658=)
c.69372G= (p.Trp23124=)
c.69369G= (p.Trp23123=)
c.66411G= (p.Trp22137=)
c.48027G= (p.Trp16009=)
c.69522G= (p.Trp23174=)
c.69519G= (p.Trp23173=)
c.68952G= (p.Trp22984=)
c.66294G= (p.Trp22098=)
c.66213G= (p.Trp22071=)
c.47976G= (p.Trp15992=)
c.37830G= (p.Trp12610=)
2g.178571051C>GCA349629137TTN,TTN-AS1c.67377G>C (p.Trp22459Cys)
c.48462G>C (p.Trp16154Cys)
c.48261G>C (p.Trp16087Cys)
c.47886G>C (p.Trp15962Cys)
c.75081G>C (p.Trp25027Cys)
c.70158G>C (p.Trp23386Cys)
n.447-249C>G
n.2044-11521C>G
c.74178G>C (p.Trp24726Cys)
c.48072G>C (p.Trp16024Cys)
c.47931G>C (p.Trp15977Cys)
c.73974G>C (p.Trp24658Cys)
c.69372G>C (p.Trp23124Cys)
c.69369G>C (p.Trp23123Cys)
c.66411G>C (p.Trp22137Cys)
c.48027G>C (p.Trp16009Cys)
c.69522G>C (p.Trp23174Cys)
c.69519G>C (p.Trp23173Cys)
c.68952G>C (p.Trp22984Cys)
c.66294G>C (p.Trp22098Cys)
c.66213G>C (p.Trp22071Cys)
c.47976G>C (p.Trp15992Cys)
c.37830G>C (p.Trp12610Cys)
2g.178571051C>TCA16617352TTN,TTN-AS1c.67377G>A (p.Trp22459Ter)
c.48462G>A (p.Trp16154Ter)
c.48261G>A (p.Trp16087Ter)
c.47886G>A (p.Trp15962Ter)
c.75081G>A (p.Trp25027Ter)
c.70158G>A (p.Trp23386Ter)
n.447-249C>T
n.2044-11521C>T
c.74178G>A (p.Trp24726Ter)
c.48072G>A (p.Trp16024Ter)
c.47931G>A (p.Trp15977Ter)
c.73974G>A (p.Trp24658Ter)
c.69372G>A (p.Trp23124Ter)
c.69369G>A (p.Trp23123Ter)
c.66411G>A (p.Trp22137Ter)
c.48027G>A (p.Trp16009Ter)
c.69522G>A (p.Trp23174Ter)
c.69519G>A (p.Trp23173Ter)
c.68952G>A (p.Trp22984Ter)
c.66294G>A (p.Trp22098Ter)
c.66213G>A (p.Trp22071Ter)
c.47976G>A (p.Trp15992Ter)
c.37830G>A (p.Trp12610Ter)
 ClinVar dbSNP
2g.178571052C>ACA349629143TTN,TTN-AS1c.67376G>T (p.Trp22459Leu)
c.48461G>T (p.Trp16154Leu)
c.48260G>T (p.Trp16087Leu)
c.47885G>T (p.Trp15962Leu)
c.75080G>T (p.Trp25027Leu)
c.70157G>T (p.Trp23386Leu)
n.447-248C>A
n.2044-11520C>A
c.74177G>T (p.Trp24726Leu)
c.48071G>T (p.Trp16024Leu)
c.47930G>T (p.Trp15977Leu)
c.73973G>T (p.Trp24658Leu)
c.69371G>T (p.Trp23124Leu)
c.69368G>T (p.Trp23123Leu)
c.66410G>T (p.Trp22137Leu)
c.48026G>T (p.Trp16009Leu)
c.69521G>T (p.Trp23174Leu)
c.69518G>T (p.Trp23173Leu)
c.68951G>T (p.Trp22984Leu)
c.66293G>T (p.Trp22098Leu)
c.66212G>T (p.Trp22071Leu)
c.47975G>T (p.Trp15992Leu)
c.37829G>T (p.Trp12610Leu)
2g.178571052C>GCA349629144TTN,TTN-AS1c.67376G>C (p.Trp22459Ser)
c.48461G>C (p.Trp16154Ser)
c.48260G>C (p.Trp16087Ser)
c.47885G>C (p.Trp15962Ser)
c.75080G>C (p.Trp25027Ser)
c.70157G>C (p.Trp23386Ser)
n.447-248C>G
n.2044-11520C>G
c.74177G>C (p.Trp24726Ser)
c.48071G>C (p.Trp16024Ser)
c.47930G>C (p.Trp15977Ser)
c.73973G>C (p.Trp24658Ser)
c.69371G>C (p.Trp23124Ser)
c.69368G>C (p.Trp23123Ser)
c.66410G>C (p.Trp22137Ser)
c.48026G>C (p.Trp16009Ser)
c.69521G>C (p.Trp23174Ser)
c.69518G>C (p.Trp23173Ser)
c.68951G>C (p.Trp22984Ser)
c.66293G>C (p.Trp22098Ser)
c.66212G>C (p.Trp22071Ser)
c.47975G>C (p.Trp15992Ser)
c.37829G>C (p.Trp12610Ser)
2g.178571052C>TCA349629146TTN,TTN-AS1c.67376G>A (p.Trp22459Ter)
c.48461G>A (p.Trp16154Ter)
c.48260G>A (p.Trp16087Ter)
c.47885G>A (p.Trp15962Ter)
c.75080G>A (p.Trp25027Ter)
c.70157G>A (p.Trp23386Ter)
n.447-248C>T
n.2044-11520C>T
c.74177G>A (p.Trp24726Ter)
c.48071G>A (p.Trp16024Ter)
c.47930G>A (p.Trp15977Ter)
c.73973G>A (p.Trp24658Ter)
c.69371G>A (p.Trp23124Ter)
c.69368G>A (p.Trp23123Ter)
c.66410G>A (p.Trp22137Ter)
c.48026G>A (p.Trp16009Ter)
c.69521G>A (p.Trp23174Ter)
c.69518G>A (p.Trp23173Ter)
c.68951G>A (p.Trp22984Ter)
c.66293G>A (p.Trp22098Ter)
c.66212G>A (p.Trp22071Ter)
c.47975G>A (p.Trp15992Ter)
c.37829G>A (p.Trp12610Ter)
 ClinVar
2g.178571053A>CCA349629148TTN,TTN-AS1c.67375T>G (p.Trp22459Gly)
c.48460T>G (p.Trp16154Gly)
c.48259T>G (p.Trp16087Gly)
c.47884T>G (p.Trp15962Gly)
c.75079T>G (p.Trp25027Gly)
c.70156T>G (p.Trp23386Gly)
n.447-247A>C
n.2044-11519A>C
c.74176T>G (p.Trp24726Gly)
c.48070T>G (p.Trp16024Gly)
c.47929T>G (p.Trp15977Gly)
c.73972T>G (p.Trp24658Gly)
c.69370T>G (p.Trp23124Gly)
c.69367T>G (p.Trp23123Gly)
c.66409T>G (p.Trp22137Gly)
c.48025T>G (p.Trp16009Gly)
c.69520T>G (p.Trp23174Gly)
c.69517T>G (p.Trp23173Gly)
c.68950T>G (p.Trp22984Gly)
c.66292T>G (p.Trp22098Gly)
c.66211T>G (p.Trp22071Gly)
c.47974T>G (p.Trp15992Gly)
c.37828T>G (p.Trp12610Gly)
2g.178571053A>GCA349629154TTN,TTN-AS1c.67375T>C (p.Trp22459Arg)
c.48460T>C (p.Trp16154Arg)
c.48259T>C (p.Trp16087Arg)
c.47884T>C (p.Trp15962Arg)
c.75079T>C (p.Trp25027Arg)
c.70156T>C (p.Trp23386Arg)
n.447-247A>G
n.2044-11519A>G
c.74176T>C (p.Trp24726Arg)
c.48070T>C (p.Trp16024Arg)
c.47929T>C (p.Trp15977Arg)
c.73972T>C (p.Trp24658Arg)
c.69370T>C (p.Trp23124Arg)
c.69367T>C (p.Trp23123Arg)
c.66409T>C (p.Trp22137Arg)
c.48025T>C (p.Trp16009Arg)
c.69520T>C (p.Trp23174Arg)
c.69517T>C (p.Trp23173Arg)
c.68950T>C (p.Trp22984Arg)
c.66292T>C (p.Trp22098Arg)
c.66211T>C (p.Trp22071Arg)
c.47974T>C (p.Trp15992Arg)
c.37828T>C (p.Trp12610Arg)
2g.178571053A>TCA349629152TTN,TTN-AS1c.67375T>A (p.Trp22459Arg)
c.48460T>A (p.Trp16154Arg)
c.48259T>A (p.Trp16087Arg)
c.47884T>A (p.Trp15962Arg)
c.75079T>A (p.Trp25027Arg)
c.70156T>A (p.Trp23386Arg)
n.447-247A>T
n.2044-11519A>T
c.74176T>A (p.Trp24726Arg)
c.48070T>A (p.Trp16024Arg)
c.47929T>A (p.Trp15977Arg)
c.73972T>A (p.Trp24658Arg)
c.69370T>A (p.Trp23124Arg)
c.69367T>A (p.Trp23123Arg)
c.66409T>A (p.Trp22137Arg)
c.48025T>A (p.Trp16009Arg)
c.69520T>A (p.Trp23174Arg)
c.69517T>A (p.Trp23173Arg)
c.68950T>A (p.Trp22984Arg)
c.66292T>A (p.Trp22098Arg)
c.66211T>A (p.Trp22071Arg)
c.47974T>A (p.Trp15992Arg)
c.37828T>A (p.Trp12610Arg)
2g.178571054C>ACA349629155TTN,TTN-AS1c.67374G>T (p.Gln22458His)
c.48459G>T (p.Gln16153His)
c.48258G>T (p.Gln16086His)
c.47883G>T (p.Gln15961His)
c.75078G>T (p.Gln25026His)
c.70155G>T (p.Gln23385His)
n.447-246C>A
n.2044-11518C>A
c.74175G>T (p.Gln24725His)
c.48069G>T (p.Gln16023His)
c.47928G>T (p.Gln15976His)
c.73971G>T (p.Gln24657His)
c.69369G>T (p.Gln23123His)
c.69366G>T (p.Gln23122His)
c.66408G>T (p.Gln22136His)
c.48024G>T (p.Gln16008His)
c.69519G>T (p.Gln23173His)
c.69516G>T (p.Gln23172His)
c.68949G>T (p.Gln22983His)
c.66291G>T (p.Gln22097His)
c.66210G>T (p.Gln22070His)
c.47973G>T (p.Gln15991His)
c.37827G>T (p.Gln12609His)
2g.178571054C>GCA349629160TTN,TTN-AS1c.67374G>C (p.Gln22458His)
c.48459G>C (p.Gln16153His)
c.48258G>C (p.Gln16086His)
c.47883G>C (p.Gln15961His)
c.75078G>C (p.Gln25026His)
c.70155G>C (p.Gln23385His)
n.447-246C>G
n.2044-11518C>G
c.74175G>C (p.Gln24725His)
c.48069G>C (p.Gln16023His)
c.47928G>C (p.Gln15976His)
c.73971G>C (p.Gln24657His)
c.69369G>C (p.Gln23123His)
c.69366G>C (p.Gln23122His)
c.66408G>C (p.Gln22136His)
c.48024G>C (p.Gln16008His)
c.69519G>C (p.Gln23173His)
c.69516G>C (p.Gln23172His)
c.68949G>C (p.Gln22983His)
c.66291G>C (p.Gln22097His)
c.66210G>C (p.Gln22070His)
c.47973G>C (p.Gln15991His)
c.37827G>C (p.Gln12609His)
2g.178571054C>TCA430255603TTN,TTN-AS1c.67374G>A (p.Gln22458=)
c.48459G>A (p.Gln16153=)
c.48258G>A (p.Gln16086=)
c.47883G>A (p.Gln15961=)
c.75078G>A (p.Gln25026=)
c.70155G>A (p.Gln23385=)
n.447-246C>T
n.2044-11518C>T
c.74175G>A (p.Gln24725=)
c.48069G>A (p.Gln16023=)
c.47928G>A (p.Gln15976=)
c.73971G>A (p.Gln24657=)
c.69369G>A (p.Gln23123=)
c.69366G>A (p.Gln23122=)
c.66408G>A (p.Gln22136=)
c.48024G>A (p.Gln16008=)
c.69519G>A (p.Gln23173=)
c.69516G>A (p.Gln23172=)
c.68949G>A (p.Gln22983=)
c.66291G>A (p.Gln22097=)
c.66210G>A (p.Gln22070=)
c.47973G>A (p.Gln15991=)
c.37827G>A (p.Gln12609=)
 ClinVar
2g.178571055T>ACA349629163TTN,TTN-AS1c.67373A>T (p.Gln22458Leu)
c.48458A>T (p.Gln16153Leu)
c.48257A>T (p.Gln16086Leu)
c.47882A>T (p.Gln15961Leu)
c.75077A>T (p.Gln25026Leu)
c.70154A>T (p.Gln23385Leu)
n.447-245T>A
n.2044-11517T>A
c.74174A>T (p.Gln24725Leu)
c.48068A>T (p.Gln16023Leu)
c.47927A>T (p.Gln15976Leu)
c.73970A>T (p.Gln24657Leu)
c.69368A>T (p.Gln23123Leu)
c.69365A>T (p.Gln23122Leu)
c.66407A>T (p.Gln22136Leu)
c.48023A>T (p.Gln16008Leu)
c.69518A>T (p.Gln23173Leu)
c.69515A>T (p.Gln23172Leu)
c.68948A>T (p.Gln22983Leu)
c.66290A>T (p.Gln22097Leu)
c.66209A>T (p.Gln22070Leu)
c.47972A>T (p.Gln15991Leu)
c.37826A>T (p.Gln12609Leu)
2g.178571055T>CCA349629166TTN,TTN-AS1c.67373A>G (p.Gln22458Arg)
c.48458A>G (p.Gln16153Arg)
c.48257A>G (p.Gln16086Arg)
c.47882A>G (p.Gln15961Arg)
c.75077A>G (p.Gln25026Arg)
c.70154A>G (p.Gln23385Arg)
n.447-245T>C
n.2044-11517T>C
c.74174A>G (p.Gln24725Arg)
c.48068A>G (p.Gln16023Arg)
c.47927A>G (p.Gln15976Arg)
c.73970A>G (p.Gln24657Arg)
c.69368A>G (p.Gln23123Arg)
c.69365A>G (p.Gln23122Arg)
c.66407A>G (p.Gln22136Arg)
c.48023A>G (p.Gln16008Arg)
c.69518A>G (p.Gln23173Arg)
c.69515A>G (p.Gln23172Arg)
c.68948A>G (p.Gln22983Arg)
c.66290A>G (p.Gln22097Arg)
c.66209A>G (p.Gln22070Arg)
c.47972A>G (p.Gln15991Arg)
c.37826A>G (p.Gln12609Arg)
2g.178571055T>GCA349629169TTN,TTN-AS1c.67373A>C (p.Gln22458Pro)
c.48458A>C (p.Gln16153Pro)
c.48257A>C (p.Gln16086Pro)
c.47882A>C (p.Gln15961Pro)
c.75077A>C (p.Gln25026Pro)
c.70154A>C (p.Gln23385Pro)
n.447-245T>G
n.2044-11517T>G
c.74174A>C (p.Gln24725Pro)
c.48068A>C (p.Gln16023Pro)
c.47927A>C (p.Gln15976Pro)
c.73970A>C (p.Gln24657Pro)
c.69368A>C (p.Gln23123Pro)
c.69365A>C (p.Gln23122Pro)
c.66407A>C (p.Gln22136Pro)
c.48023A>C (p.Gln16008Pro)
c.69518A>C (p.Gln23173Pro)
c.69515A>C (p.Gln23172Pro)
c.68948A>C (p.Gln22983Pro)
c.66290A>C (p.Gln22097Pro)
c.66209A>C (p.Gln22070Pro)
c.47972A>C (p.Gln15991Pro)
c.37826A>C (p.Gln12609Pro)
 gnomAD v4
2g.178571056G>ACA349629173TTN,TTN-AS1c.67372C>T (p.Gln22458Ter)
c.48457C>T (p.Gln16153Ter)
c.48256C>T (p.Gln16086Ter)
c.47881C>T (p.Gln15961Ter)
c.75076C>T (p.Gln25026Ter)
c.70153C>T (p.Gln23385Ter)
n.447-244G>A
n.2044-11516G>A
c.74173C>T (p.Gln24725Ter)
c.48067C>T (p.Gln16023Ter)
c.47926C>T (p.Gln15976Ter)
c.73969C>T (p.Gln24657Ter)
c.69367C>T (p.Gln23123Ter)
c.69364C>T (p.Gln23122Ter)
c.66406C>T (p.Gln22136Ter)
c.48022C>T (p.Gln16008Ter)
c.69517C>T (p.Gln23173Ter)
c.69514C>T (p.Gln23172Ter)
c.68947C>T (p.Gln22983Ter)
c.66289C>T (p.Gln22097Ter)
c.66208C>T (p.Gln22070Ter)
c.47971C>T (p.Gln15991Ter)
c.37825C>T (p.Gln12609Ter)
2g.178571056G>CCA349629176TTN,TTN-AS1c.67372C>G (p.Gln22458Glu)
c.48457C>G (p.Gln16153Glu)
c.48256C>G (p.Gln16086Glu)
c.47881C>G (p.Gln15961Glu)
c.75076C>G (p.Gln25026Glu)
c.70153C>G (p.Gln23385Glu)
n.447-244G>C
n.2044-11516G>C
c.74173C>G (p.Gln24725Glu)
c.48067C>G (p.Gln16023Glu)
c.47926C>G (p.Gln15976Glu)
c.73969C>G (p.Gln24657Glu)
c.69367C>G (p.Gln23123Glu)
c.69364C>G (p.Gln23122Glu)
c.66406C>G (p.Gln22136Glu)
c.48022C>G (p.Gln16008Glu)
c.69517C>G (p.Gln23173Glu)
c.69514C>G (p.Gln23172Glu)
c.68947C>G (p.Gln22983Glu)
c.66289C>G (p.Gln22097Glu)
c.66208C>G (p.Gln22070Glu)
c.47971C>G (p.Gln15991Glu)
c.37825C>G (p.Gln12609Glu)
2g.178571056G>TCA349629178TTN,TTN-AS1c.67372C>A (p.Gln22458Lys)
c.48457C>A (p.Gln16153Lys)
c.48256C>A (p.Gln16086Lys)
c.47881C>A (p.Gln15961Lys)
c.75076C>A (p.Gln25026Lys)
c.70153C>A (p.Gln23385Lys)
n.447-244G>T
n.2044-11516G>T
c.74173C>A (p.Gln24725Lys)
c.48067C>A (p.Gln16023Lys)
c.47926C>A (p.Gln15976Lys)
c.73969C>A (p.Gln24657Lys)
c.69367C>A (p.Gln23123Lys)
c.69364C>A (p.Gln23122Lys)
c.66406C>A (p.Gln22136Lys)
c.48022C>A (p.Gln16008Lys)
c.69517C>A (p.Gln23173Lys)
c.69514C>A (p.Gln23172Lys)
c.68947C>A (p.Gln22983Lys)
c.66289C>A (p.Gln22097Lys)
c.66208C>A (p.Gln22070Lys)
c.47971C>A (p.Gln15991Lys)
c.37825C>A (p.Gln12609Lys)
2g.178571057A=CA1310531365TTN,TTN-AS1c.67371T= (p.Leu22457=)
c.48456T= (p.Leu16152=)
c.48255T= (p.Leu16085=)
c.47880T= (p.Leu15960=)
c.75075T= (p.Leu25025=)
c.70152T= (p.Leu23384=)
n.447-243A=
n.2044-11515A=
c.74172T= (p.Leu24724=)
c.48066T= (p.Leu16022=)
c.47925T= (p.Leu15975=)
c.73968T= (p.Leu24656=)
c.69366T= (p.Leu23122=)
c.69363T= (p.Leu23121=)
c.66405T= (p.Leu22135=)
c.48021T= (p.Leu16007=)
c.69516T= (p.Leu23172=)
c.69513T= (p.Leu23171=)
c.68946T= (p.Leu22982=)
c.66288T= (p.Leu22096=)
c.66207T= (p.Leu22069=)
c.47970T= (p.Leu15990=)
c.37824T= (p.Leu12608=)
2g.178571057A>CCA430255615TTN,TTN-AS1c.67371T>G (p.Leu22457=)
c.48456T>G (p.Leu16152=)
c.48255T>G (p.Leu16085=)
c.47880T>G (p.Leu15960=)
c.75075T>G (p.Leu25025=)
c.70152T>G (p.Leu23384=)
n.447-243A>C
n.2044-11515A>C
c.74172T>G (p.Leu24724=)
c.48066T>G (p.Leu16022=)
c.47925T>G (p.Leu15975=)
c.73968T>G (p.Leu24656=)
c.69366T>G (p.Leu23122=)
c.69363T>G (p.Leu23121=)
c.66405T>G (p.Leu22135=)
c.48021T>G (p.Leu16007=)
c.69516T>G (p.Leu23172=)
c.69513T>G (p.Leu23171=)
c.68946T>G (p.Leu22982=)
c.66288T>G (p.Leu22096=)
c.66207T>G (p.Leu22069=)
c.47970T>G (p.Leu15990=)
c.37824T>G (p.Leu12608=)
2g.178571057A>GCA16604122TTN,TTN-AS1c.67371T>C (p.Leu22457=)
c.48456T>C (p.Leu16152=)
c.48255T>C (p.Leu16085=)
c.47880T>C (p.Leu15960=)
c.75075T>C (p.Leu25025=)
c.70152T>C (p.Leu23384=)
n.447-243A>G
n.2044-11515A>G
c.74172T>C (p.Leu24724=)
c.48066T>C (p.Leu16022=)
c.47925T>C (p.Leu15975=)
c.73968T>C (p.Leu24656=)
c.69366T>C (p.Leu23122=)
c.69363T>C (p.Leu23121=)
c.66405T>C (p.Leu22135=)
c.48021T>C (p.Leu16007=)
c.69516T>C (p.Leu23172=)
c.69513T>C (p.Leu23171=)
c.68946T>C (p.Leu22982=)
c.66288T>C (p.Leu22096=)
c.66207T>C (p.Leu22069=)
c.47970T>C (p.Leu15990=)
c.37824T>C (p.Leu12608=)
 ClinVar dbSNP
2g.178571057A>TCA430255619TTN,TTN-AS1c.67371T>A (p.Leu22457=)
c.48456T>A (p.Leu16152=)
c.48255T>A (p.Leu16085=)
c.47880T>A (p.Leu15960=)
c.75075T>A (p.Leu25025=)
c.70152T>A (p.Leu23384=)
n.447-243A>T
n.2044-11515A>T
c.74172T>A (p.Leu24724=)
c.48066T>A (p.Leu16022=)
c.47925T>A (p.Leu15975=)
c.73968T>A (p.Leu24656=)
c.69366T>A (p.Leu23122=)
c.69363T>A (p.Leu23121=)
c.66405T>A (p.Leu22135=)
c.48021T>A (p.Leu16007=)
c.69516T>A (p.Leu23172=)
c.69513T>A (p.Leu23171=)
c.68946T>A (p.Leu22982=)
c.66288T>A (p.Leu22096=)
c.66207T>A (p.Leu22069=)
c.47970T>A (p.Leu15990=)
c.37824T>A (p.Leu12608=)
2g.178571058A=CA1310531366TTN,TTN-AS1c.67370T= (p.Leu22457=)
c.48455T= (p.Leu16152=)
c.48254T= (p.Leu16085=)
c.47879T= (p.Leu15960=)
c.75074T= (p.Leu25025=)
c.70151T= (p.Leu23384=)
n.447-242A=
n.2044-11514A=
c.74171T= (p.Leu24724=)
c.48065T= (p.Leu16022=)
c.47924T= (p.Leu15975=)
c.73967T= (p.Leu24656=)
c.69365T= (p.Leu23122=)
c.69362T= (p.Leu23121=)
c.66404T= (p.Leu22135=)
c.48020T= (p.Leu16007=)
c.69515T= (p.Leu23172=)
c.69512T= (p.Leu23171=)
c.68945T= (p.Leu22982=)
c.66287T= (p.Leu22096=)
c.66206T= (p.Leu22069=)
c.47969T= (p.Leu15990=)
c.37823T= (p.Leu12608=)
2g.178571058A>CCA349629181TTN,TTN-AS1c.67370T>G (p.Leu22457Arg)
c.48455T>G (p.Leu16152Arg)
c.48254T>G (p.Leu16085Arg)
c.47879T>G (p.Leu15960Arg)
c.75074T>G (p.Leu25025Arg)
c.70151T>G (p.Leu23384Arg)
n.447-242A>C
n.2044-11514A>C
c.74171T>G (p.Leu24724Arg)
c.48065T>G (p.Leu16022Arg)
c.47924T>G (p.Leu15975Arg)
c.73967T>G (p.Leu24656Arg)
c.69365T>G (p.Leu23122Arg)
c.69362T>G (p.Leu23121Arg)
c.66404T>G (p.Leu22135Arg)
c.48020T>G (p.Leu16007Arg)
c.69515T>G (p.Leu23172Arg)
c.69512T>G (p.Leu23171Arg)
c.68945T>G (p.Leu22982Arg)
c.66287T>G (p.Leu22096Arg)
c.66206T>G (p.Leu22069Arg)
c.47969T>G (p.Leu15990Arg)
c.37823T>G (p.Leu12608Arg)
 COSMIC COSMIC COSMIC COSMIC
2g.178571058A>GCA60996504TTN,TTN-AS1c.67370T>C (p.Leu22457Pro)
c.48455T>C (p.Leu16152Pro)
c.48254T>C (p.Leu16085Pro)
c.47879T>C (p.Leu15960Pro)
c.75074T>C (p.Leu25025Pro)
c.70151T>C (p.Leu23384Pro)
n.447-242A>G
n.2044-11514A>G
c.74171T>C (p.Leu24724Pro)
c.48065T>C (p.Leu16022Pro)
c.47924T>C (p.Leu15975Pro)
c.73967T>C (p.Leu24656Pro)
c.69365T>C (p.Leu23122Pro)
c.69362T>C (p.Leu23121Pro)
c.66404T>C (p.Leu22135Pro)
c.48020T>C (p.Leu16007Pro)
c.69515T>C (p.Leu23172Pro)
c.69512T>C (p.Leu23171Pro)
c.68945T>C (p.Leu22982Pro)
c.66287T>C (p.Leu22096Pro)
c.66206T>C (p.Leu22069Pro)
c.47969T>C (p.Leu15990Pro)
c.37823T>C (p.Leu12608Pro)
 dbSNP gnomAD v3 gnomAD v4
2g.178571058A>TCA349629187TTN,TTN-AS1c.67370T>A (p.Leu22457His)
c.48455T>A (p.Leu16152His)
c.48254T>A (p.Leu16085His)
c.47879T>A (p.Leu15960His)
c.75074T>A (p.Leu25025His)
c.70151T>A (p.Leu23384His)
n.447-242A>T
n.2044-11514A>T
c.74171T>A (p.Leu24724His)
c.48065T>A (p.Leu16022His)
c.47924T>A (p.Leu15975His)
c.73967T>A (p.Leu24656His)
c.69365T>A (p.Leu23122His)
c.69362T>A (p.Leu23121His)
c.66404T>A (p.Leu22135His)
c.48020T>A (p.Leu16007His)
c.69515T>A (p.Leu23172His)
c.69512T>A (p.Leu23171His)
c.68945T>A (p.Leu22982His)
c.66287T>A (p.Leu22096His)
c.66206T>A (p.Leu22069His)
c.47969T>A (p.Leu15990His)
c.37823T>A (p.Leu12608His)
2g.178571059G>ACA349629190TTN,TTN-AS1c.67369C>T (p.Leu22457Phe)
c.48454C>T (p.Leu16152Phe)
c.48253C>T (p.Leu16085Phe)
c.47878C>T (p.Leu15960Phe)
c.75073C>T (p.Leu25025Phe)
c.70150C>T (p.Leu23384Phe)
n.447-241G>A
n.2044-11513G>A
c.74170C>T (p.Leu24724Phe)
c.48064C>T (p.Leu16022Phe)
c.47923C>T (p.Leu15975Phe)
c.73966C>T (p.Leu24656Phe)
c.69364C>T (p.Leu23122Phe)
c.69361C>T (p.Leu23121Phe)
c.66403C>T (p.Leu22135Phe)
c.48019C>T (p.Leu16007Phe)
c.69514C>T (p.Leu23172Phe)
c.69511C>T (p.Leu23171Phe)
c.68944C>T (p.Leu22982Phe)
c.66286C>T (p.Leu22096Phe)
c.66205C>T (p.Leu22069Phe)
c.47968C>T (p.Leu15990Phe)
c.37822C>T (p.Leu12608Phe)
2g.178571059G>CCA349629192TTN,TTN-AS1c.67369C>G (p.Leu22457Val)
c.48454C>G (p.Leu16152Val)
c.48253C>G (p.Leu16085Val)
c.47878C>G (p.Leu15960Val)
c.75073C>G (p.Leu25025Val)
c.70150C>G (p.Leu23384Val)
n.447-241G>C
n.2044-11513G>C
c.74170C>G (p.Leu24724Val)
c.48064C>G (p.Leu16022Val)
c.47923C>G (p.Leu15975Val)
c.73966C>G (p.Leu24656Val)
c.69364C>G (p.Leu23122Val)
c.69361C>G (p.Leu23121Val)
c.66403C>G (p.Leu22135Val)
c.48019C>G (p.Leu16007Val)
c.69514C>G (p.Leu23172Val)
c.69511C>G (p.Leu23171Val)
c.68944C>G (p.Leu22982Val)
c.66286C>G (p.Leu22096Val)
c.66205C>G (p.Leu22069Val)
c.47968C>G (p.Leu15990Val)
c.37822C>G (p.Leu12608Val)
2g.178571059G>TCA349629188TTN,TTN-AS1c.67369C>A (p.Leu22457Ile)
c.48454C>A (p.Leu16152Ile)
c.48253C>A (p.Leu16085Ile)
c.47878C>A (p.Leu15960Ile)
c.75073C>A (p.Leu25025Ile)
c.70150C>A (p.Leu23384Ile)
n.447-241G>T
n.2044-11513G>T
c.74170C>A (p.Leu24724Ile)
c.48064C>A (p.Leu16022Ile)
c.47923C>A (p.Leu15975Ile)
c.73966C>A (p.Leu24656Ile)
c.69364C>A (p.Leu23122Ile)
c.69361C>A (p.Leu23121Ile)
c.66403C>A (p.Leu22135Ile)
c.48019C>A (p.Leu16007Ile)
c.69514C>A (p.Leu23172Ile)
c.69511C>A (p.Leu23171Ile)
c.68944C>A (p.Leu22982Ile)
c.66286C>A (p.Leu22096Ile)
c.66205C>A (p.Leu22069Ile)
c.47968C>A (p.Leu15990Ile)
c.37822C>A (p.Leu12608Ile)
2g.178571060A>CCA430255627TTN,TTN-AS1c.67368T>G (p.Thr22456=)
c.48453T>G (p.Thr16151=)
c.48252T>G (p.Thr16084=)
c.47877T>G (p.Thr15959=)
c.75072T>G (p.Thr25024=)
c.70149T>G (p.Thr23383=)
n.447-240A>C
n.2044-11512A>C
c.74169T>G (p.Thr24723=)
c.48063T>G (p.Thr16021=)
c.47922T>G (p.Thr15974=)
c.73965T>G (p.Thr24655=)
c.69363T>G (p.Thr23121=)
c.69360T>G (p.Thr23120=)
c.66402T>G (p.Thr22134=)
c.48018T>G (p.Thr16006=)
c.69513T>G (p.Thr23171=)
c.69510T>G (p.Thr23170=)
c.68943T>G (p.Thr22981=)
c.66285T>G (p.Thr22095=)
c.66204T>G (p.Thr22068=)
c.47967T>G (p.Thr15989=)
c.37821T>G (p.Thr12607=)
2g.178571060A>GCA430255629TTN,TTN-AS1c.67368T>C (p.Thr22456=)
c.48453T>C (p.Thr16151=)
c.48252T>C (p.Thr16084=)
c.47877T>C (p.Thr15959=)
c.75072T>C (p.Thr25024=)
c.70149T>C (p.Thr23383=)
n.447-240A>G
n.2044-11512A>G
c.74169T>C (p.Thr24723=)
c.48063T>C (p.Thr16021=)
c.47922T>C (p.Thr15974=)
c.73965T>C (p.Thr24655=)
c.69363T>C (p.Thr23121=)
c.69360T>C (p.Thr23120=)
c.66402T>C (p.Thr22134=)
c.48018T>C (p.Thr16006=)
c.69513T>C (p.Thr23171=)
c.69510T>C (p.Thr23170=)
c.68943T>C (p.Thr22981=)
c.66285T>C (p.Thr22095=)
c.66204T>C (p.Thr22068=)
c.47967T>C (p.Thr15989=)
c.37821T>C (p.Thr12607=)
2g.178571060A>TCA430255630TTN,TTN-AS1c.67368T>A (p.Thr22456=)
c.48453T>A (p.Thr16151=)
c.48252T>A (p.Thr16084=)
c.47877T>A (p.Thr15959=)
c.75072T>A (p.Thr25024=)
c.70149T>A (p.Thr23383=)
n.447-240A>T
n.2044-11512A>T
c.74169T>A (p.Thr24723=)
c.48063T>A (p.Thr16021=)
c.47922T>A (p.Thr15974=)
c.73965T>A (p.Thr24655=)
c.69363T>A (p.Thr23121=)
c.69360T>A (p.Thr23120=)
c.66402T>A (p.Thr22134=)
c.48018T>A (p.Thr16006=)
c.69513T>A (p.Thr23171=)
c.69510T>A (p.Thr23170=)
c.68943T>A (p.Thr22981=)
c.66285T>A (p.Thr22095=)
c.66204T>A (p.Thr22068=)
c.47967T>A (p.Thr15989=)
c.37821T>A (p.Thr12607=)
2g.178571061G>ACA349629208TTN,TTN-AS1c.67367C>T (p.Thr22456Ile)
c.48452C>T (p.Thr16151Ile)
c.48251C>T (p.Thr16084Ile)
c.47876C>T (p.Thr15959Ile)
c.75071C>T (p.Thr25024Ile)
c.70148C>T (p.Thr23383Ile)
n.447-239G>A
n.2044-11511G>A
c.74168C>T (p.Thr24723Ile)
c.48062C>T (p.Thr16021Ile)
c.47921C>T (p.Thr15974Ile)
c.73964C>T (p.Thr24655Ile)
c.69362C>T (p.Thr23121Ile)
c.69359C>T (p.Thr23120Ile)
c.66401C>T (p.Thr22134Ile)
c.48017C>T (p.Thr16006Ile)
c.69512C>T (p.Thr23171Ile)
c.69509C>T (p.Thr23170Ile)
c.68942C>T (p.Thr22981Ile)
c.66284C>T (p.Thr22095Ile)
c.66203C>T (p.Thr22068Ile)
c.47966C>T (p.Thr15989Ile)
c.37820C>T (p.Thr12607Ile)
2g.178571061G>CCA349629202TTN,TTN-AS1c.67367C>G (p.Thr22456Ser)
c.48452C>G (p.Thr16151Ser)
c.48251C>G (p.Thr16084Ser)
c.47876C>G (p.Thr15959Ser)
c.75071C>G (p.Thr25024Ser)
c.70148C>G (p.Thr23383Ser)
n.447-239G>C
n.2044-11511G>C
c.74168C>G (p.Thr24723Ser)
c.48062C>G (p.Thr16021Ser)
c.47921C>G (p.Thr15974Ser)
c.73964C>G (p.Thr24655Ser)
c.69362C>G (p.Thr23121Ser)
c.69359C>G (p.Thr23120Ser)
c.66401C>G (p.Thr22134Ser)
c.48017C>G (p.Thr16006Ser)
c.69512C>G (p.Thr23171Ser)
c.69509C>G (p.Thr23170Ser)
c.68942C>G (p.Thr22981Ser)
c.66284C>G (p.Thr22095Ser)
c.66203C>G (p.Thr22068Ser)
c.47966C>G (p.Thr15989Ser)
c.37820C>G (p.Thr12607Ser)
 dbSNP gnomAD v4
2g.178571061G=CA1310531367TTN,TTN-AS1c.67367C= (p.Thr22456=)
c.48452C= (p.Thr16151=)
c.48251C= (p.Thr16084=)
c.47876C= (p.Thr15959=)
c.75071C= (p.Thr25024=)
c.70148C= (p.Thr23383=)
n.447-239G=
n.2044-11511G=
c.74168C= (p.Thr24723=)
c.48062C= (p.Thr16021=)
c.47921C= (p.Thr15974=)
c.73964C= (p.Thr24655=)
c.69362C= (p.Thr23121=)
c.69359C= (p.Thr23120=)
c.66401C= (p.Thr22134=)
c.48017C= (p.Thr16006=)
c.69512C= (p.Thr23171=)
c.69509C= (p.Thr23170=)
c.68942C= (p.Thr22981=)
c.66284C= (p.Thr22095=)
c.66203C= (p.Thr22068=)
c.47966C= (p.Thr15989=)
c.37820C= (p.Thr12607=)
2g.178571061G>TCA60996510TTN,TTN-AS1c.67367C>A (p.Thr22456Asn)
c.48452C>A (p.Thr16151Asn)
c.48251C>A (p.Thr16084Asn)
c.47876C>A (p.Thr15959Asn)
c.75071C>A (p.Thr25024Asn)
c.70148C>A (p.Thr23383Asn)
n.447-239G>T
n.2044-11511G>T
c.74168C>A (p.Thr24723Asn)
c.48062C>A (p.Thr16021Asn)
c.47921C>A (p.Thr15974Asn)
c.73964C>A (p.Thr24655Asn)
c.69362C>A (p.Thr23121Asn)
c.69359C>A (p.Thr23120Asn)
c.66401C>A (p.Thr22134Asn)
c.48017C>A (p.Thr16006Asn)
c.69512C>A (p.Thr23171Asn)
c.69509C>A (p.Thr23170Asn)
c.68942C>A (p.Thr22981Asn)
c.66284C>A (p.Thr22095Asn)
c.66203C>A (p.Thr22068Asn)
c.47966C>A (p.Thr15989Asn)
c.37820C>A (p.Thr12607Asn)
 dbSNP
2g.178571062T>ACA349629213TTN,TTN-AS1c.67366A>T (p.Thr22456Ser)
c.48451A>T (p.Thr16151Ser)
c.48250A>T (p.Thr16084Ser)
c.47875A>T (p.Thr15959Ser)
c.75070A>T (p.Thr25024Ser)
c.70147A>T (p.Thr23383Ser)
n.447-238T>A
n.2044-11510T>A
c.74167A>T (p.Thr24723Ser)
c.48061A>T (p.Thr16021Ser)
c.47920A>T (p.Thr15974Ser)
c.73963A>T (p.Thr24655Ser)
c.69361A>T (p.Thr23121Ser)
c.69358A>T (p.Thr23120Ser)
c.66400A>T (p.Thr22134Ser)
c.48016A>T (p.Thr16006Ser)
c.69511A>T (p.Thr23171Ser)
c.69508A>T (p.Thr23170Ser)
c.68941A>T (p.Thr22981Ser)
c.66283A>T (p.Thr22095Ser)
c.66202A>T (p.Thr22068Ser)
c.47965A>T (p.Thr15989Ser)
c.37819A>T (p.Thr12607Ser)
 dbSNP
2g.178571062T>CCA349629214TTN,TTN-AS1c.67366A>G (p.Thr22456Ala)
c.48451A>G (p.Thr16151Ala)
c.48250A>G (p.Thr16084Ala)
c.47875A>G (p.Thr15959Ala)
c.75070A>G (p.Thr25024Ala)
c.70147A>G (p.Thr23383Ala)
n.447-238T>C
n.2044-11510T>C
c.74167A>G (p.Thr24723Ala)
c.48061A>G (p.Thr16021Ala)
c.47920A>G (p.Thr15974Ala)
c.73963A>G (p.Thr24655Ala)
c.69361A>G (p.Thr23121Ala)
c.69358A>G (p.Thr23120Ala)
c.66400A>G (p.Thr22134Ala)
c.48016A>G (p.Thr16006Ala)
c.69511A>G (p.Thr23171Ala)
c.69508A>G (p.Thr23170Ala)
c.68941A>G (p.Thr22981Ala)
c.66283A>G (p.Thr22095Ala)
c.66202A>G (p.Thr22068Ala)
c.47965A>G (p.Thr15989Ala)
c.37819A>G (p.Thr12607Ala)
2g.178571062T>GCA349629216TTN,TTN-AS1c.67366A>C (p.Thr22456Pro)
c.48451A>C (p.Thr16151Pro)
c.48250A>C (p.Thr16084Pro)
c.47875A>C (p.Thr15959Pro)
c.75070A>C (p.Thr25024Pro)
c.70147A>C (p.Thr23383Pro)
n.447-238T>G
n.2044-11510T>G
c.74167A>C (p.Thr24723Pro)
c.48061A>C (p.Thr16021Pro)
c.47920A>C (p.Thr15974Pro)
c.73963A>C (p.Thr24655Pro)
c.69361A>C (p.Thr23121Pro)
c.69358A>C (p.Thr23120Pro)
c.66400A>C (p.Thr22134Pro)
c.48016A>C (p.Thr16006Pro)
c.69511A>C (p.Thr23171Pro)
c.69508A>C (p.Thr23170Pro)
c.68941A>C (p.Thr22981Pro)
c.66283A>C (p.Thr22095Pro)
c.66202A>C (p.Thr22068Pro)
c.47965A>C (p.Thr15989Pro)
c.37819A>C (p.Thr12607Pro)
2g.178571062T=CA1310531368TTN,TTN-AS1c.67366A= (p.Thr22456=)
c.48451A= (p.Thr16151=)
c.48250A= (p.Thr16084=)
c.47875A= (p.Thr15959=)
c.75070A= (p.Thr25024=)
c.70147A= (p.Thr23383=)
n.447-238T=
n.2044-11510T=
c.74167A= (p.Thr24723=)
c.48061A= (p.Thr16021=)
c.47920A= (p.Thr15974=)
c.73963A= (p.Thr24655=)
c.69361A= (p.Thr23121=)
c.69358A= (p.Thr23120=)
c.66400A= (p.Thr22134=)
c.48016A= (p.Thr16006=)
c.69511A= (p.Thr23171=)
c.69508A= (p.Thr23170=)
c.68941A= (p.Thr22981=)
c.66283A= (p.Thr22095=)
c.66202A= (p.Thr22068=)
c.47965A= (p.Thr15989=)
c.37819A= (p.Thr12607=)
2g.178571063C>ACA430255644TTN,TTN-AS1c.67365G>T (p.Val22455=)
c.48450G>T (p.Val16150=)
c.48249G>T (p.Val16083=)
c.47874G>T (p.Val15958=)
c.75069G>T (p.Val25023=)
c.70146G>T (p.Val23382=)
n.447-237C>A
n.2044-11509C>A
c.74166G>T (p.Val24722=)
c.48060G>T (p.Val16020=)
c.47919G>T (p.Val15973=)
c.73962G>T (p.Val24654=)
c.69360G>T (p.Val23120=)
c.69357G>T (p.Val23119=)
c.66399G>T (p.Val22133=)
c.48015G>T (p.Val16005=)
c.69510G>T (p.Val23170=)
c.69507G>T (p.Val23169=)
c.68940G>T (p.Val22980=)
c.66282G>T (p.Val22094=)
c.66201G>T (p.Val22067=)
c.47964G>T (p.Val15988=)
c.37818G>T (p.Val12606=)
2g.178571063C=CA1310531369TTN,TTN-AS1c.67365G= (p.Val22455=)
c.48450G= (p.Val16150=)
c.48249G= (p.Val16083=)
c.47874G= (p.Val15958=)
c.75069G= (p.Val25023=)
c.70146G= (p.Val23382=)
n.447-237C=
n.2044-11509C=
c.74166G= (p.Val24722=)
c.48060G= (p.Val16020=)
c.47919G= (p.Val15973=)
c.73962G= (p.Val24654=)
c.69360G= (p.Val23120=)
c.69357G= (p.Val23119=)
c.66399G= (p.Val22133=)
c.48015G= (p.Val16005=)
c.69510G= (p.Val23170=)
c.69507G= (p.Val23169=)
c.68940G= (p.Val22980=)
c.66282G= (p.Val22094=)
c.66201G= (p.Val22067=)
c.47964G= (p.Val15988=)
c.37818G= (p.Val12606=)
2g.178571063C>GCA1990107TTN,TTN-AS1c.67365G>C (p.Val22455=)
c.48450G>C (p.Val16150=)
c.48249G>C (p.Val16083=)
c.47874G>C (p.Val15958=)
c.75069G>C (p.Val25023=)
c.70146G>C (p.Val23382=)
n.447-237C>G
n.2044-11509C>G
c.74166G>C (p.Val24722=)
c.48060G>C (p.Val16020=)
c.47919G>C (p.Val15973=)
c.73962G>C (p.Val24654=)
c.69360G>C (p.Val23120=)
c.69357G>C (p.Val23119=)
c.66399G>C (p.Val22133=)
c.48015G>C (p.Val16005=)
c.69510G>C (p.Val23170=)
c.69507G>C (p.Val23169=)
c.68940G>C (p.Val22980=)
c.66282G>C (p.Val22094=)
c.66201G>C (p.Val22067=)
c.47964G>C (p.Val15988=)
c.37818G>C (p.Val12606=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178571063C>TCA430255642TTN,TTN-AS1c.67365G>A (p.Val22455=)
c.48450G>A (p.Val16150=)
c.48249G>A (p.Val16083=)
c.47874G>A (p.Val15958=)
c.75069G>A (p.Val25023=)
c.70146G>A (p.Val23382=)
n.447-237C>T
n.2044-11509C>T
c.74166G>A (p.Val24722=)
c.48060G>A (p.Val16020=)
c.47919G>A (p.Val15973=)
c.73962G>A (p.Val24654=)
c.69360G>A (p.Val23120=)
c.69357G>A (p.Val23119=)
c.66399G>A (p.Val22133=)
c.48015G>A (p.Val16005=)
c.69510G>A (p.Val23170=)
c.69507G>A (p.Val23169=)
c.68940G>A (p.Val22980=)
c.66282G>A (p.Val22094=)
c.66201G>A (p.Val22067=)
c.47964G>A (p.Val15988=)
c.37818G>A (p.Val12606=)
 gnomAD v4
2g.178571064A>CCA349629226TTN,TTN-AS1c.67364T>G (p.Val22455Gly)
c.48449T>G (p.Val16150Gly)
c.48248T>G (p.Val16083Gly)
c.47873T>G (p.Val15958Gly)
c.75068T>G (p.Val25023Gly)
c.70145T>G (p.Val23382Gly)
n.447-236A>C
n.2044-11508A>C
c.74165T>G (p.Val24722Gly)
c.48059T>G (p.Val16020Gly)
c.47918T>G (p.Val15973Gly)
c.73961T>G (p.Val24654Gly)
c.69359T>G (p.Val23120Gly)
c.69356T>G (p.Val23119Gly)
c.66398T>G (p.Val22133Gly)
c.48014T>G (p.Val16005Gly)
c.69509T>G (p.Val23170Gly)
c.69506T>G (p.Val23169Gly)
c.68939T>G (p.Val22980Gly)
c.66281T>G (p.Val22094Gly)
c.66200T>G (p.Val22067Gly)
c.47963T>G (p.Val15988Gly)
c.37817T>G (p.Val12606Gly)
2g.178571064A>GCA349629224TTN,TTN-AS1c.67364T>C (p.Val22455Ala)
c.48449T>C (p.Val16150Ala)
c.48248T>C (p.Val16083Ala)
c.47873T>C (p.Val15958Ala)
c.75068T>C (p.Val25023Ala)
c.70145T>C (p.Val23382Ala)
n.447-236A>G
n.2044-11508A>G
c.74165T>C (p.Val24722Ala)
c.48059T>C (p.Val16020Ala)
c.47918T>C (p.Val15973Ala)
c.73961T>C (p.Val24654Ala)
c.69359T>C (p.Val23120Ala)
c.69356T>C (p.Val23119Ala)
c.66398T>C (p.Val22133Ala)
c.48014T>C (p.Val16005Ala)
c.69509T>C (p.Val23170Ala)
c.69506T>C (p.Val23169Ala)
c.68939T>C (p.Val22980Ala)
c.66281T>C (p.Val22094Ala)
c.66200T>C (p.Val22067Ala)
c.47963T>C (p.Val15988Ala)
c.37817T>C (p.Val12606Ala)
2g.178571064A>TCA349629222TTN,TTN-AS1c.67364T>A (p.Val22455Glu)
c.48449T>A (p.Val16150Glu)
c.48248T>A (p.Val16083Glu)
c.47873T>A (p.Val15958Glu)
c.75068T>A (p.Val25023Glu)
c.70145T>A (p.Val23382Glu)
n.447-236A>T
n.2044-11508A>T
c.74165T>A (p.Val24722Glu)
c.48059T>A (p.Val16020Glu)
c.47918T>A (p.Val15973Glu)
c.73961T>A (p.Val24654Glu)
c.69359T>A (p.Val23120Glu)
c.69356T>A (p.Val23119Glu)
c.66398T>A (p.Val22133Glu)
c.48014T>A (p.Val16005Glu)
c.69509T>A (p.Val23170Glu)
c.69506T>A (p.Val23169Glu)
c.68939T>A (p.Val22980Glu)
c.66281T>A (p.Val22094Glu)
c.66200T>A (p.Val22067Glu)
c.47963T>A (p.Val15988Glu)
c.37817T>A (p.Val12606Glu)
2g.178571065C>ACA349629230TTN,TTN-AS1c.67363G>T (p.Val22455Leu)
c.48448G>T (p.Val16150Leu)
c.48247G>T (p.Val16083Leu)
c.47872G>T (p.Val15958Leu)
c.75067G>T (p.Val25023Leu)
c.70144G>T (p.Val23382Leu)
n.447-235C>A
n.2044-11507C>A
c.74164G>T (p.Val24722Leu)
c.48058G>T (p.Val16020Leu)
c.47917G>T (p.Val15973Leu)
c.73960G>T (p.Val24654Leu)
c.69358G>T (p.Val23120Leu)
c.69355G>T (p.Val23119Leu)
c.66397G>T (p.Val22133Leu)
c.48013G>T (p.Val16005Leu)
c.69508G>T (p.Val23170Leu)
c.69505G>T (p.Val23169Leu)
c.68938G>T (p.Val22980Leu)
c.66280G>T (p.Val22094Leu)
c.66199G>T (p.Val22067Leu)
c.47962G>T (p.Val15988Leu)
c.37816G>T (p.Val12606Leu)
2g.178571065C>GCA349629231TTN,TTN-AS1c.67363G>C (p.Val22455Leu)
c.48448G>C (p.Val16150Leu)
c.48247G>C (p.Val16083Leu)
c.47872G>C (p.Val15958Leu)
c.75067G>C (p.Val25023Leu)
c.70144G>C (p.Val23382Leu)
n.447-235C>G
n.2044-11507C>G
c.74164G>C (p.Val24722Leu)
c.48058G>C (p.Val16020Leu)
c.47917G>C (p.Val15973Leu)
c.73960G>C (p.Val24654Leu)
c.69358G>C (p.Val23120Leu)
c.69355G>C (p.Val23119Leu)
c.66397G>C (p.Val22133Leu)
c.48013G>C (p.Val16005Leu)
c.69508G>C (p.Val23170Leu)
c.69505G>C (p.Val23169Leu)
c.68938G>C (p.Val22980Leu)
c.66280G>C (p.Val22094Leu)
c.66199G>C (p.Val22067Leu)
c.47962G>C (p.Val15988Leu)
c.37816G>C (p.Val12606Leu)

Number of alleles fetched