Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.178545568C>ACA349460485TTN,TTN-AS1c.87838G>T (p.Glu29280Ter)
c.68923G>T (p.Glu22975Ter)
c.68722G>T (p.Glu22908Ter)
c.68347G>T (p.Glu22783Ter)
c.95542G>T (p.Glu31848Ter)
c.90619G>T (p.Glu30207Ter)
n.446+21932C>A
n.2043+3207C>A
c.94639G>T (p.Glu31547Ter)
c.68533G>T (p.Glu22845Ter)
c.68392G>T (p.Glu22798Ter)
c.94435G>T (p.Glu31479Ter)
c.89833G>T (p.Glu29945Ter)
c.89830G>T (p.Glu29944Ter)
c.86872G>T (p.Glu28958Ter)
c.68488G>T (p.Glu22830Ter)
c.89983G>T (p.Glu29995Ter)
c.89980G>T (p.Glu29994Ter)
c.89413G>T (p.Glu29805Ter)
c.86755G>T (p.Glu28919Ter)
c.86674G>T (p.Glu28892Ter)
c.68437G>T (p.Glu22813Ter)
c.58291G>T (p.Glu19431Ter)
2g.178545568C>GCA349460486TTN,TTN-AS1c.87838G>C (p.Glu29280Gln)
c.68923G>C (p.Glu22975Gln)
c.68722G>C (p.Glu22908Gln)
c.68347G>C (p.Glu22783Gln)
c.95542G>C (p.Glu31848Gln)
c.90619G>C (p.Glu30207Gln)
n.446+21932C>G
n.2043+3207C>G
c.94639G>C (p.Glu31547Gln)
c.68533G>C (p.Glu22845Gln)
c.68392G>C (p.Glu22798Gln)
c.94435G>C (p.Glu31479Gln)
c.89833G>C (p.Glu29945Gln)
c.89830G>C (p.Glu29944Gln)
c.86872G>C (p.Glu28958Gln)
c.68488G>C (p.Glu22830Gln)
c.89983G>C (p.Glu29995Gln)
c.89980G>C (p.Glu29994Gln)
c.89413G>C (p.Glu29805Gln)
c.86755G>C (p.Glu28919Gln)
c.86674G>C (p.Glu28892Gln)
c.68437G>C (p.Glu22813Gln)
c.58291G>C (p.Glu19431Gln)
2g.178545568C>TCA349460488TTN,TTN-AS1c.87838G>A (p.Glu29280Lys)
c.68923G>A (p.Glu22975Lys)
c.68722G>A (p.Glu22908Lys)
c.68347G>A (p.Glu22783Lys)
c.95542G>A (p.Glu31848Lys)
c.90619G>A (p.Glu30207Lys)
n.446+21932C>T
n.2043+3207C>T
c.94639G>A (p.Glu31547Lys)
c.68533G>A (p.Glu22845Lys)
c.68392G>A (p.Glu22798Lys)
c.94435G>A (p.Glu31479Lys)
c.89833G>A (p.Glu29945Lys)
c.89830G>A (p.Glu29944Lys)
c.86872G>A (p.Glu28958Lys)
c.68488G>A (p.Glu22830Lys)
c.89983G>A (p.Glu29995Lys)
c.89980G>A (p.Glu29994Lys)
c.89413G>A (p.Glu29805Lys)
c.86755G>A (p.Glu28919Lys)
c.86674G>A (p.Glu28892Lys)
c.68437G>A (p.Glu22813Lys)
c.58291G>A (p.Glu19431Lys)
2g.178545569A=CA1310522287TTN,TTN-AS1c.87837T= (p.Arg29279=)
c.68922T= (p.Arg22974=)
c.68721T= (p.Arg22907=)
c.68346T= (p.Arg22782=)
c.95541T= (p.Arg31847=)
c.90618T= (p.Arg30206=)
n.446+21933A=
n.2043+3208A=
c.94638T= (p.Arg31546=)
c.68532T= (p.Arg22844=)
c.68391T= (p.Arg22797=)
c.94434T= (p.Arg31478=)
c.89832T= (p.Arg29944=)
c.89829T= (p.Arg29943=)
c.86871T= (p.Arg28957=)
c.68487T= (p.Arg22829=)
c.89982T= (p.Arg29994=)
c.89979T= (p.Arg29993=)
c.89412T= (p.Arg29804=)
c.86754T= (p.Arg28918=)
c.86673T= (p.Arg28891=)
c.68436T= (p.Arg22812=)
c.58290T= (p.Arg19430=)
2g.178545569A>CCA1986936TTN,TTN-AS1c.87837T>G (p.Arg29279=)
c.68922T>G (p.Arg22974=)
c.68721T>G (p.Arg22907=)
c.68346T>G (p.Arg22782=)
c.95541T>G (p.Arg31847=)
c.90618T>G (p.Arg30206=)
n.446+21933A>C
n.2043+3208A>C
c.94638T>G (p.Arg31546=)
c.68532T>G (p.Arg22844=)
c.68391T>G (p.Arg22797=)
c.94434T>G (p.Arg31478=)
c.89832T>G (p.Arg29944=)
c.89829T>G (p.Arg29943=)
c.86871T>G (p.Arg28957=)
c.68487T>G (p.Arg22829=)
c.89982T>G (p.Arg29994=)
c.89979T>G (p.Arg29993=)
c.89412T>G (p.Arg29804=)
c.86754T>G (p.Arg28918=)
c.86673T>G (p.Arg28891=)
c.68436T>G (p.Arg22812=)
c.58290T>G (p.Arg19430=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178545569A>GCA430241687TTN,TTN-AS1c.87837T>C (p.Arg29279=)
c.68922T>C (p.Arg22974=)
c.68721T>C (p.Arg22907=)
c.68346T>C (p.Arg22782=)
c.95541T>C (p.Arg31847=)
c.90618T>C (p.Arg30206=)
n.446+21933A>G
n.2043+3208A>G
c.94638T>C (p.Arg31546=)
c.68532T>C (p.Arg22844=)
c.68391T>C (p.Arg22797=)
c.94434T>C (p.Arg31478=)
c.89832T>C (p.Arg29944=)
c.89829T>C (p.Arg29943=)
c.86871T>C (p.Arg28957=)
c.68487T>C (p.Arg22829=)
c.89982T>C (p.Arg29994=)
c.89979T>C (p.Arg29993=)
c.89412T>C (p.Arg29804=)
c.86754T>C (p.Arg28918=)
c.86673T>C (p.Arg28891=)
c.68436T>C (p.Arg22812=)
c.58290T>C (p.Arg19430=)
2g.178545569A>TCA430241689TTN,TTN-AS1c.87837T>A (p.Arg29279=)
c.68922T>A (p.Arg22974=)
c.68721T>A (p.Arg22907=)
c.68346T>A (p.Arg22782=)
c.95541T>A (p.Arg31847=)
c.90618T>A (p.Arg30206=)
n.446+21933A>T
n.2043+3208A>T
c.94638T>A (p.Arg31546=)
c.68532T>A (p.Arg22844=)
c.68391T>A (p.Arg22797=)
c.94434T>A (p.Arg31478=)
c.89832T>A (p.Arg29944=)
c.89829T>A (p.Arg29943=)
c.86871T>A (p.Arg28957=)
c.68487T>A (p.Arg22829=)
c.89982T>A (p.Arg29994=)
c.89979T>A (p.Arg29993=)
c.89412T>A (p.Arg29804=)
c.86754T>A (p.Arg28918=)
c.86673T>A (p.Arg28891=)
c.68436T>A (p.Arg22812=)
c.58290T>A (p.Arg19430=)
2g.178545569dupCA2662124640TTN,TTN-AS1c.87837dup (p.Glu29280Ter)
c.68922dup (p.Glu22975Ter)
c.68721dup (p.Glu22908Ter)
c.68346dup (p.Glu22783Ter)
c.95541dup (p.Glu31848Ter)
c.90618dup (p.Glu30207Ter)
n.446+21933dup
n.2043+3208dup
c.94638dup (p.Glu31547Ter)
c.68532dup (p.Glu22845Ter)
c.68391dup (p.Glu22798Ter)
c.94434dup (p.Glu31479Ter)
c.89832dup (p.Glu29945Ter)
c.89829dup (p.Glu29944Ter)
c.86871dup (p.Glu28958Ter)
c.68487dup (p.Glu22830Ter)
c.89982dup (p.Glu29995Ter)
c.89979dup (p.Glu29994Ter)
c.89412dup (p.Glu29805Ter)
c.86754dup (p.Glu28919Ter)
c.86673dup (p.Glu28892Ter)
c.68436dup (p.Glu22813Ter)
c.58290dup (p.Glu19431Ter)
 gnomAD v4
2g.178545570C>ACA349460503TTN,TTN-AS1c.87836G>T (p.Arg29279Leu)
c.68921G>T (p.Arg22974Leu)
c.68720G>T (p.Arg22907Leu)
c.68345G>T (p.Arg22782Leu)
c.95540G>T (p.Arg31847Leu)
c.90617G>T (p.Arg30206Leu)
n.446+21934C>A
n.2043+3209C>A
c.94637G>T (p.Arg31546Leu)
c.68531G>T (p.Arg22844Leu)
c.68390G>T (p.Arg22797Leu)
c.94433G>T (p.Arg31478Leu)
c.89831G>T (p.Arg29944Leu)
c.89828G>T (p.Arg29943Leu)
c.86870G>T (p.Arg28957Leu)
c.68486G>T (p.Arg22829Leu)
c.89981G>T (p.Arg29994Leu)
c.89978G>T (p.Arg29993Leu)
c.89411G>T (p.Arg29804Leu)
c.86753G>T (p.Arg28918Leu)
c.86672G>T (p.Arg28891Leu)
c.68435G>T (p.Arg22812Leu)
c.58289G>T (p.Arg19430Leu)
2g.178545570C=CA1310522289TTN,TTN-AS1c.87836G= (p.Arg29279=)
c.68921G= (p.Arg22974=)
c.68720G= (p.Arg22907=)
c.68345G= (p.Arg22782=)
c.95540G= (p.Arg31847=)
c.90617G= (p.Arg30206=)
n.446+21934C=
n.2043+3209C=
c.94637G= (p.Arg31546=)
c.68531G= (p.Arg22844=)
c.68390G= (p.Arg22797=)
c.94433G= (p.Arg31478=)
c.89831G= (p.Arg29944=)
c.89828G= (p.Arg29943=)
c.86870G= (p.Arg28957=)
c.68486G= (p.Arg22829=)
c.89981G= (p.Arg29994=)
c.89978G= (p.Arg29993=)
c.89411G= (p.Arg29804=)
c.86753G= (p.Arg28918=)
c.86672G= (p.Arg28891=)
c.68435G= (p.Arg22812=)
c.58289G= (p.Arg19430=)
2g.178545570C>GCA349460506TTN,TTN-AS1c.87836G>C (p.Arg29279Pro)
c.68921G>C (p.Arg22974Pro)
c.68720G>C (p.Arg22907Pro)
c.68345G>C (p.Arg22782Pro)
c.95540G>C (p.Arg31847Pro)
c.90617G>C (p.Arg30206Pro)
n.446+21934C>G
n.2043+3209C>G
c.94637G>C (p.Arg31546Pro)
c.68531G>C (p.Arg22844Pro)
c.68390G>C (p.Arg22797Pro)
c.94433G>C (p.Arg31478Pro)
c.89831G>C (p.Arg29944Pro)
c.89828G>C (p.Arg29943Pro)
c.86870G>C (p.Arg28957Pro)
c.68486G>C (p.Arg22829Pro)
c.89981G>C (p.Arg29994Pro)
c.89978G>C (p.Arg29993Pro)
c.89411G>C (p.Arg29804Pro)
c.86753G>C (p.Arg28918Pro)
c.86672G>C (p.Arg28891Pro)
c.68435G>C (p.Arg22812Pro)
c.58289G>C (p.Arg19430Pro)
 ClinVar dbSNP gnomAD v4
2g.178545570C>TCA1986937TTN,TTN-AS1c.87836G>A (p.Arg29279His)
c.68921G>A (p.Arg22974His)
c.68720G>A (p.Arg22907His)
c.68345G>A (p.Arg22782His)
c.95540G>A (p.Arg31847His)
c.90617G>A (p.Arg30206His)
n.446+21934C>T
n.2043+3209C>T
c.94637G>A (p.Arg31546His)
c.68531G>A (p.Arg22844His)
c.68390G>A (p.Arg22797His)
c.94433G>A (p.Arg31478His)
c.89831G>A (p.Arg29944His)
c.89828G>A (p.Arg29943His)
c.86870G>A (p.Arg28957His)
c.68486G>A (p.Arg22829His)
c.89981G>A (p.Arg29994His)
c.89978G>A (p.Arg29993His)
c.89411G>A (p.Arg29804His)
c.86753G>A (p.Arg28918His)
c.86672G>A (p.Arg28891His)
c.68435G>A (p.Arg22812His)
c.58289G>A (p.Arg19430His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
2g.178545571G>ACA1986938TTN,TTN-AS1c.87835C>T (p.Arg29279Cys)
c.68920C>T (p.Arg22974Cys)
c.68719C>T (p.Arg22907Cys)
c.68344C>T (p.Arg22782Cys)
c.95539C>T (p.Arg31847Cys)
c.90616C>T (p.Arg30206Cys)
n.446+21935G>A
n.2043+3210G>A
c.94636C>T (p.Arg31546Cys)
c.68530C>T (p.Arg22844Cys)
c.68389C>T (p.Arg22797Cys)
c.94432C>T (p.Arg31478Cys)
c.89830C>T (p.Arg29944Cys)
c.89827C>T (p.Arg29943Cys)
c.86869C>T (p.Arg28957Cys)
c.68485C>T (p.Arg22829Cys)
c.89980C>T (p.Arg29994Cys)
c.89977C>T (p.Arg29993Cys)
c.89410C>T (p.Arg29804Cys)
c.86752C>T (p.Arg28918Cys)
c.86671C>T (p.Arg28891Cys)
c.68434C>T (p.Arg22812Cys)
c.58288C>T (p.Arg19430Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178545571G>CCA349460518TTN,TTN-AS1c.87835C>G (p.Arg29279Gly)
c.68920C>G (p.Arg22974Gly)
c.68719C>G (p.Arg22907Gly)
c.68344C>G (p.Arg22782Gly)
c.95539C>G (p.Arg31847Gly)
c.90616C>G (p.Arg30206Gly)
n.446+21935G>C
n.2043+3210G>C
c.94636C>G (p.Arg31546Gly)
c.68530C>G (p.Arg22844Gly)
c.68389C>G (p.Arg22797Gly)
c.94432C>G (p.Arg31478Gly)
c.89830C>G (p.Arg29944Gly)
c.89827C>G (p.Arg29943Gly)
c.86869C>G (p.Arg28957Gly)
c.68485C>G (p.Arg22829Gly)
c.89980C>G (p.Arg29994Gly)
c.89977C>G (p.Arg29993Gly)
c.89410C>G (p.Arg29804Gly)
c.86752C>G (p.Arg28918Gly)
c.86671C>G (p.Arg28891Gly)
c.68434C>G (p.Arg22812Gly)
c.58288C>G (p.Arg19430Gly)
2g.178545571G=CA1310522290TTN,TTN-AS1c.87835C= (p.Arg29279=)
c.68920C= (p.Arg22974=)
c.68719C= (p.Arg22907=)
c.68344C= (p.Arg22782=)
c.95539C= (p.Arg31847=)
c.90616C= (p.Arg30206=)
n.446+21935G=
n.2043+3210G=
c.94636C= (p.Arg31546=)
c.68530C= (p.Arg22844=)
c.68389C= (p.Arg22797=)
c.94432C= (p.Arg31478=)
c.89830C= (p.Arg29944=)
c.89827C= (p.Arg29943=)
c.86869C= (p.Arg28957=)
c.68485C= (p.Arg22829=)
c.89980C= (p.Arg29994=)
c.89977C= (p.Arg29993=)
c.89410C= (p.Arg29804=)
c.86752C= (p.Arg28918=)
c.86671C= (p.Arg28891=)
c.68434C= (p.Arg22812=)
c.58288C= (p.Arg19430=)
2g.178545571G>TCA349460517TTN,TTN-AS1c.87835C>A (p.Arg29279Ser)
c.68920C>A (p.Arg22974Ser)
c.68719C>A (p.Arg22907Ser)
c.68344C>A (p.Arg22782Ser)
c.95539C>A (p.Arg31847Ser)
c.90616C>A (p.Arg30206Ser)
n.446+21935G>T
n.2043+3210G>T
c.94636C>A (p.Arg31546Ser)
c.68530C>A (p.Arg22844Ser)
c.68389C>A (p.Arg22797Ser)
c.94432C>A (p.Arg31478Ser)
c.89830C>A (p.Arg29944Ser)
c.89827C>A (p.Arg29943Ser)
c.86869C>A (p.Arg28957Ser)
c.68485C>A (p.Arg22829Ser)
c.89980C>A (p.Arg29994Ser)
c.89977C>A (p.Arg29993Ser)
c.89410C>A (p.Arg29804Ser)
c.86752C>A (p.Arg28918Ser)
c.86671C>A (p.Arg28891Ser)
c.68434C>A (p.Arg22812Ser)
c.58288C>A (p.Arg19430Ser)
2g.178545572T>ACA349460519TTN,TTN-AS1c.87834A>T (p.Lys29278Asn)
c.68919A>T (p.Lys22973Asn)
c.68718A>T (p.Lys22906Asn)
c.68343A>T (p.Lys22781Asn)
c.95538A>T (p.Lys31846Asn)
c.90615A>T (p.Lys30205Asn)
n.446+21936T>A
n.2043+3211T>A
c.94635A>T (p.Lys31545Asn)
c.68529A>T (p.Lys22843Asn)
c.68388A>T (p.Lys22796Asn)
c.94431A>T (p.Lys31477Asn)
c.89829A>T (p.Lys29943Asn)
c.89826A>T (p.Lys29942Asn)
c.86868A>T (p.Lys28956Asn)
c.68484A>T (p.Lys22828Asn)
c.89979A>T (p.Lys29993Asn)
c.89976A>T (p.Lys29992Asn)
c.89409A>T (p.Lys29803Asn)
c.86751A>T (p.Lys28917Asn)
c.86670A>T (p.Lys28890Asn)
c.68433A>T (p.Lys22811Asn)
c.58287A>T (p.Lys19429Asn)
2g.178545572T>CCA430241696TTN,TTN-AS1c.87834A>G (p.Lys29278=)
c.68919A>G (p.Lys22973=)
c.68718A>G (p.Lys22906=)
c.68343A>G (p.Lys22781=)
c.95538A>G (p.Lys31846=)
c.90615A>G (p.Lys30205=)
n.446+21936T>C
n.2043+3211T>C
c.94635A>G (p.Lys31545=)
c.68529A>G (p.Lys22843=)
c.68388A>G (p.Lys22796=)
c.94431A>G (p.Lys31477=)
c.89829A>G (p.Lys29943=)
c.89826A>G (p.Lys29942=)
c.86868A>G (p.Lys28956=)
c.68484A>G (p.Lys22828=)
c.89979A>G (p.Lys29993=)
c.89976A>G (p.Lys29992=)
c.89409A>G (p.Lys29803=)
c.86751A>G (p.Lys28917=)
c.86670A>G (p.Lys28890=)
c.68433A>G (p.Lys22811=)
c.58287A>G (p.Lys19429=)
2g.178545572T>GCA349460520TTN,TTN-AS1c.87834A>C (p.Lys29278Asn)
c.68919A>C (p.Lys22973Asn)
c.68718A>C (p.Lys22906Asn)
c.68343A>C (p.Lys22781Asn)
c.95538A>C (p.Lys31846Asn)
c.90615A>C (p.Lys30205Asn)
n.446+21936T>G
n.2043+3211T>G
c.94635A>C (p.Lys31545Asn)
c.68529A>C (p.Lys22843Asn)
c.68388A>C (p.Lys22796Asn)
c.94431A>C (p.Lys31477Asn)
c.89829A>C (p.Lys29943Asn)
c.89826A>C (p.Lys29942Asn)
c.86868A>C (p.Lys28956Asn)
c.68484A>C (p.Lys22828Asn)
c.89979A>C (p.Lys29993Asn)
c.89976A>C (p.Lys29992Asn)
c.89409A>C (p.Lys29803Asn)
c.86751A>C (p.Lys28917Asn)
c.86670A>C (p.Lys28890Asn)
c.68433A>C (p.Lys22811Asn)
c.58287A>C (p.Lys19429Asn)
2g.178545573T>ACA349460523TTN,TTN-AS1c.87833A>T (p.Lys29278Ile)
c.68918A>T (p.Lys22973Ile)
c.68717A>T (p.Lys22906Ile)
c.68342A>T (p.Lys22781Ile)
c.95537A>T (p.Lys31846Ile)
c.90614A>T (p.Lys30205Ile)
n.446+21937T>A
n.2043+3212T>A
c.94634A>T (p.Lys31545Ile)
c.68528A>T (p.Lys22843Ile)
c.68387A>T (p.Lys22796Ile)
c.94430A>T (p.Lys31477Ile)
c.89828A>T (p.Lys29943Ile)
c.89825A>T (p.Lys29942Ile)
c.86867A>T (p.Lys28956Ile)
c.68483A>T (p.Lys22828Ile)
c.89978A>T (p.Lys29993Ile)
c.89975A>T (p.Lys29992Ile)
c.89408A>T (p.Lys29803Ile)
c.86750A>T (p.Lys28917Ile)
c.86669A>T (p.Lys28890Ile)
c.68432A>T (p.Lys22811Ile)
c.58286A>T (p.Lys19429Ile)
2g.178545573T>CCA1986939TTN,TTN-AS1c.87833A>G (p.Lys29278Arg)
c.68918A>G (p.Lys22973Arg)
c.68717A>G (p.Lys22906Arg)
c.68342A>G (p.Lys22781Arg)
c.95537A>G (p.Lys31846Arg)
c.90614A>G (p.Lys30205Arg)
n.446+21937T>C
n.2043+3212T>C
c.94634A>G (p.Lys31545Arg)
c.68528A>G (p.Lys22843Arg)
c.68387A>G (p.Lys22796Arg)
c.94430A>G (p.Lys31477Arg)
c.89828A>G (p.Lys29943Arg)
c.89825A>G (p.Lys29942Arg)
c.86867A>G (p.Lys28956Arg)
c.68483A>G (p.Lys22828Arg)
c.89978A>G (p.Lys29993Arg)
c.89975A>G (p.Lys29992Arg)
c.89408A>G (p.Lys29803Arg)
c.86750A>G (p.Lys28917Arg)
c.86669A>G (p.Lys28890Arg)
c.68432A>G (p.Lys22811Arg)
c.58286A>G (p.Lys19429Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178545573T>GCA349460524TTN,TTN-AS1c.87833A>C (p.Lys29278Thr)
c.68918A>C (p.Lys22973Thr)
c.68717A>C (p.Lys22906Thr)
c.68342A>C (p.Lys22781Thr)
c.95537A>C (p.Lys31846Thr)
c.90614A>C (p.Lys30205Thr)
n.446+21937T>G
n.2043+3212T>G
c.94634A>C (p.Lys31545Thr)
c.68528A>C (p.Lys22843Thr)
c.68387A>C (p.Lys22796Thr)
c.94430A>C (p.Lys31477Thr)
c.89828A>C (p.Lys29943Thr)
c.89825A>C (p.Lys29942Thr)
c.86867A>C (p.Lys28956Thr)
c.68483A>C (p.Lys22828Thr)
c.89978A>C (p.Lys29993Thr)
c.89975A>C (p.Lys29992Thr)
c.89408A>C (p.Lys29803Thr)
c.86750A>C (p.Lys28917Thr)
c.86669A>C (p.Lys28890Thr)
c.68432A>C (p.Lys22811Thr)
c.58286A>C (p.Lys19429Thr)
2g.178545573T=CA1310522292TTN,TTN-AS1c.87833A= (p.Lys29278=)
c.68918A= (p.Lys22973=)
c.68717A= (p.Lys22906=)
c.68342A= (p.Lys22781=)
c.95537A= (p.Lys31846=)
c.90614A= (p.Lys30205=)
n.446+21937T=
n.2043+3212T=
c.94634A= (p.Lys31545=)
c.68528A= (p.Lys22843=)
c.68387A= (p.Lys22796=)
c.94430A= (p.Lys31477=)
c.89828A= (p.Lys29943=)
c.89825A= (p.Lys29942=)
c.86867A= (p.Lys28956=)
c.68483A= (p.Lys22828=)
c.89978A= (p.Lys29993=)
c.89975A= (p.Lys29992=)
c.89408A= (p.Lys29803=)
c.86750A= (p.Lys28917=)
c.86669A= (p.Lys28890=)
c.68432A= (p.Lys22811=)
c.58286A= (p.Lys19429=)
2g.178545574T>ACA349460526TTN,TTN-AS1c.87832A>T (p.Lys29278Ter)
c.68917A>T (p.Lys22973Ter)
c.68716A>T (p.Lys22906Ter)
c.68341A>T (p.Lys22781Ter)
c.95536A>T (p.Lys31846Ter)
c.90613A>T (p.Lys30205Ter)
n.446+21938T>A
n.2043+3213T>A
c.94633A>T (p.Lys31545Ter)
c.68527A>T (p.Lys22843Ter)
c.68386A>T (p.Lys22796Ter)
c.94429A>T (p.Lys31477Ter)
c.89827A>T (p.Lys29943Ter)
c.89824A>T (p.Lys29942Ter)
c.86866A>T (p.Lys28956Ter)
c.68482A>T (p.Lys22828Ter)
c.89977A>T (p.Lys29993Ter)
c.89974A>T (p.Lys29992Ter)
c.89407A>T (p.Lys29803Ter)
c.86749A>T (p.Lys28917Ter)
c.86668A>T (p.Lys28890Ter)
c.68431A>T (p.Lys22811Ter)
c.58285A>T (p.Lys19429Ter)
2g.178545574T>CCA349460527TTN,TTN-AS1c.87832A>G (p.Lys29278Glu)
c.68917A>G (p.Lys22973Glu)
c.68716A>G (p.Lys22906Glu)
c.68341A>G (p.Lys22781Glu)
c.95536A>G (p.Lys31846Glu)
c.90613A>G (p.Lys30205Glu)
n.446+21938T>C
n.2043+3213T>C
c.94633A>G (p.Lys31545Glu)
c.68527A>G (p.Lys22843Glu)
c.68386A>G (p.Lys22796Glu)
c.94429A>G (p.Lys31477Glu)
c.89827A>G (p.Lys29943Glu)
c.89824A>G (p.Lys29942Glu)
c.86866A>G (p.Lys28956Glu)
c.68482A>G (p.Lys22828Glu)
c.89977A>G (p.Lys29993Glu)
c.89974A>G (p.Lys29992Glu)
c.89407A>G (p.Lys29803Glu)
c.86749A>G (p.Lys28917Glu)
c.86668A>G (p.Lys28890Glu)
c.68431A>G (p.Lys22811Glu)
c.58285A>G (p.Lys19429Glu)
2g.178545574T>GCA349460528TTN,TTN-AS1c.87832A>C (p.Lys29278Gln)
c.68917A>C (p.Lys22973Gln)
c.68716A>C (p.Lys22906Gln)
c.68341A>C (p.Lys22781Gln)
c.95536A>C (p.Lys31846Gln)
c.90613A>C (p.Lys30205Gln)
n.446+21938T>G
n.2043+3213T>G
c.94633A>C (p.Lys31545Gln)
c.68527A>C (p.Lys22843Gln)
c.68386A>C (p.Lys22796Gln)
c.94429A>C (p.Lys31477Gln)
c.89827A>C (p.Lys29943Gln)
c.89824A>C (p.Lys29942Gln)
c.86866A>C (p.Lys28956Gln)
c.68482A>C (p.Lys22828Gln)
c.89977A>C (p.Lys29993Gln)
c.89974A>C (p.Lys29992Gln)
c.89407A>C (p.Lys29803Gln)
c.86749A>C (p.Lys28917Gln)
c.86668A>C (p.Lys28890Gln)
c.68431A>C (p.Lys22811Gln)
c.58285A>C (p.Lys19429Gln)
2g.178545575G>ACA430241702TTN,TTN-AS1c.87831C>T (p.Asp29277=)
c.68916C>T (p.Asp22972=)
c.68715C>T (p.Asp22905=)
c.68340C>T (p.Asp22780=)
c.95535C>T (p.Asp31845=)
c.90612C>T (p.Asp30204=)
n.446+21939G>A
n.2043+3214G>A
c.94632C>T (p.Asp31544=)
c.68526C>T (p.Asp22842=)
c.68385C>T (p.Asp22795=)
c.94428C>T (p.Asp31476=)
c.89826C>T (p.Asp29942=)
c.89823C>T (p.Asp29941=)
c.86865C>T (p.Asp28955=)
c.68481C>T (p.Asp22827=)
c.89976C>T (p.Asp29992=)
c.89973C>T (p.Asp29991=)
c.89406C>T (p.Asp29802=)
c.86748C>T (p.Asp28916=)
c.86667C>T (p.Asp28889=)
c.68430C>T (p.Asp22810=)
c.58284C>T (p.Asp19428=)
2g.178545575G>CCA349460529TTN,TTN-AS1c.87831C>G (p.Asp29277Glu)
c.68916C>G (p.Asp22972Glu)
c.68715C>G (p.Asp22905Glu)
c.68340C>G (p.Asp22780Glu)
c.95535C>G (p.Asp31845Glu)
c.90612C>G (p.Asp30204Glu)
n.446+21939G>C
n.2043+3214G>C
c.94632C>G (p.Asp31544Glu)
c.68526C>G (p.Asp22842Glu)
c.68385C>G (p.Asp22795Glu)
c.94428C>G (p.Asp31476Glu)
c.89826C>G (p.Asp29942Glu)
c.89823C>G (p.Asp29941Glu)
c.86865C>G (p.Asp28955Glu)
c.68481C>G (p.Asp22827Glu)
c.89976C>G (p.Asp29992Glu)
c.89973C>G (p.Asp29991Glu)
c.89406C>G (p.Asp29802Glu)
c.86748C>G (p.Asp28916Glu)
c.86667C>G (p.Asp28889Glu)
c.68430C>G (p.Asp22810Glu)
c.58284C>G (p.Asp19428Glu)
2g.178545575G>TCA349460531TTN,TTN-AS1c.87831C>A (p.Asp29277Glu)
c.68916C>A (p.Asp22972Glu)
c.68715C>A (p.Asp22905Glu)
c.68340C>A (p.Asp22780Glu)
c.95535C>A (p.Asp31845Glu)
c.90612C>A (p.Asp30204Glu)
n.446+21939G>T
n.2043+3214G>T
c.94632C>A (p.Asp31544Glu)
c.68526C>A (p.Asp22842Glu)
c.68385C>A (p.Asp22795Glu)
c.94428C>A (p.Asp31476Glu)
c.89826C>A (p.Asp29942Glu)
c.89823C>A (p.Asp29941Glu)
c.86865C>A (p.Asp28955Glu)
c.68481C>A (p.Asp22827Glu)
c.89976C>A (p.Asp29992Glu)
c.89973C>A (p.Asp29991Glu)
c.89406C>A (p.Asp29802Glu)
c.86748C>A (p.Asp28916Glu)
c.86667C>A (p.Asp28889Glu)
c.68430C>A (p.Asp22810Glu)
c.58284C>A (p.Asp19428Glu)
2g.178545576T>ACA349460539TTN,TTN-AS1c.87830A>T (p.Asp29277Val)
c.68915A>T (p.Asp22972Val)
c.68714A>T (p.Asp22905Val)
c.68339A>T (p.Asp22780Val)
c.95534A>T (p.Asp31845Val)
c.90611A>T (p.Asp30204Val)
n.446+21940T>A
n.2043+3215T>A
c.94631A>T (p.Asp31544Val)
c.68525A>T (p.Asp22842Val)
c.68384A>T (p.Asp22795Val)
c.94427A>T (p.Asp31476Val)
c.89825A>T (p.Asp29942Val)
c.89822A>T (p.Asp29941Val)
c.86864A>T (p.Asp28955Val)
c.68480A>T (p.Asp22827Val)
c.89975A>T (p.Asp29992Val)
c.89972A>T (p.Asp29991Val)
c.89405A>T (p.Asp29802Val)
c.86747A>T (p.Asp28916Val)
c.86666A>T (p.Asp28889Val)
c.68429A>T (p.Asp22810Val)
c.58283A>T (p.Asp19428Val)
2g.178545576T>CCA349460536TTN,TTN-AS1c.87830A>G (p.Asp29277Gly)
c.68915A>G (p.Asp22972Gly)
c.68714A>G (p.Asp22905Gly)
c.68339A>G (p.Asp22780Gly)
c.95534A>G (p.Asp31845Gly)
c.90611A>G (p.Asp30204Gly)
n.446+21940T>C
n.2043+3215T>C
c.94631A>G (p.Asp31544Gly)
c.68525A>G (p.Asp22842Gly)
c.68384A>G (p.Asp22795Gly)
c.94427A>G (p.Asp31476Gly)
c.89825A>G (p.Asp29942Gly)
c.89822A>G (p.Asp29941Gly)
c.86864A>G (p.Asp28955Gly)
c.68480A>G (p.Asp22827Gly)
c.89975A>G (p.Asp29992Gly)
c.89972A>G (p.Asp29991Gly)
c.89405A>G (p.Asp29802Gly)
c.86747A>G (p.Asp28916Gly)
c.86666A>G (p.Asp28889Gly)
c.68429A>G (p.Asp22810Gly)
c.58283A>G (p.Asp19428Gly)
2g.178545576T>GCA349460534TTN,TTN-AS1c.87830A>C (p.Asp29277Ala)
c.68915A>C (p.Asp22972Ala)
c.68714A>C (p.Asp22905Ala)
c.68339A>C (p.Asp22780Ala)
c.95534A>C (p.Asp31845Ala)
c.90611A>C (p.Asp30204Ala)
n.446+21940T>G
n.2043+3215T>G
c.94631A>C (p.Asp31544Ala)
c.68525A>C (p.Asp22842Ala)
c.68384A>C (p.Asp22795Ala)
c.94427A>C (p.Asp31476Ala)
c.89825A>C (p.Asp29942Ala)
c.89822A>C (p.Asp29941Ala)
c.86864A>C (p.Asp28955Ala)
c.68480A>C (p.Asp22827Ala)
c.89975A>C (p.Asp29992Ala)
c.89972A>C (p.Asp29991Ala)
c.89405A>C (p.Asp29802Ala)
c.86747A>C (p.Asp28916Ala)
c.86666A>C (p.Asp28889Ala)
c.68429A>C (p.Asp22810Ala)
c.58283A>C (p.Asp19428Ala)
2g.178545577C>ACA349460543TTN,TTN-AS1c.87829G>T (p.Asp29277Tyr)
c.68914G>T (p.Asp22972Tyr)
c.68713G>T (p.Asp22905Tyr)
c.68338G>T (p.Asp22780Tyr)
c.95533G>T (p.Asp31845Tyr)
c.90610G>T (p.Asp30204Tyr)
n.446+21941C>A
n.2043+3216C>A
c.94630G>T (p.Asp31544Tyr)
c.68524G>T (p.Asp22842Tyr)
c.68383G>T (p.Asp22795Tyr)
c.94426G>T (p.Asp31476Tyr)
c.89824G>T (p.Asp29942Tyr)
c.89821G>T (p.Asp29941Tyr)
c.86863G>T (p.Asp28955Tyr)
c.68479G>T (p.Asp22827Tyr)
c.89974G>T (p.Asp29992Tyr)
c.89971G>T (p.Asp29991Tyr)
c.89404G>T (p.Asp29802Tyr)
c.86746G>T (p.Asp28916Tyr)
c.86665G>T (p.Asp28889Tyr)
c.68428G>T (p.Asp22810Tyr)
c.58282G>T (p.Asp19428Tyr)
2g.178545577C=CA1310522293TTN,TTN-AS1c.87829G= (p.Asp29277=)
c.68914G= (p.Asp22972=)
c.68713G= (p.Asp22905=)
c.68338G= (p.Asp22780=)
c.95533G= (p.Asp31845=)
c.90610G= (p.Asp30204=)
n.446+21941C=
n.2043+3216C=
c.94630G= (p.Asp31544=)
c.68524G= (p.Asp22842=)
c.68383G= (p.Asp22795=)
c.94426G= (p.Asp31476=)
c.89824G= (p.Asp29942=)
c.89821G= (p.Asp29941=)
c.86863G= (p.Asp28955=)
c.68479G= (p.Asp22827=)
c.89974G= (p.Asp29992=)
c.89971G= (p.Asp29991=)
c.89404G= (p.Asp29802=)
c.86746G= (p.Asp28916=)
c.86665G= (p.Asp28889=)
c.68428G= (p.Asp22810=)
c.58282G= (p.Asp19428=)
2g.178545577C>GCA349460544TTN,TTN-AS1c.87829G>C (p.Asp29277His)
c.68914G>C (p.Asp22972His)
c.68713G>C (p.Asp22905His)
c.68338G>C (p.Asp22780His)
c.95533G>C (p.Asp31845His)
c.90610G>C (p.Asp30204His)
n.446+21941C>G
n.2043+3216C>G
c.94630G>C (p.Asp31544His)
c.68524G>C (p.Asp22842His)
c.68383G>C (p.Asp22795His)
c.94426G>C (p.Asp31476His)
c.89824G>C (p.Asp29942His)
c.89821G>C (p.Asp29941His)
c.86863G>C (p.Asp28955His)
c.68479G>C (p.Asp22827His)
c.89974G>C (p.Asp29992His)
c.89971G>C (p.Asp29991His)
c.89404G>C (p.Asp29802His)
c.86746G>C (p.Asp28916His)
c.86665G>C (p.Asp28889His)
c.68428G>C (p.Asp22810His)
c.58282G>C (p.Asp19428His)
2g.178545577C>TCA1986940TTN,TTN-AS1c.87829G>A (p.Asp29277Asn)
c.68914G>A (p.Asp22972Asn)
c.68713G>A (p.Asp22905Asn)
c.68338G>A (p.Asp22780Asn)
c.95533G>A (p.Asp31845Asn)
c.90610G>A (p.Asp30204Asn)
n.446+21941C>T
n.2043+3216C>T
c.94630G>A (p.Asp31544Asn)
c.68524G>A (p.Asp22842Asn)
c.68383G>A (p.Asp22795Asn)
c.94426G>A (p.Asp31476Asn)
c.89824G>A (p.Asp29942Asn)
c.89821G>A (p.Asp29941Asn)
c.86863G>A (p.Asp28955Asn)
c.68479G>A (p.Asp22827Asn)
c.89974G>A (p.Asp29992Asn)
c.89971G>A (p.Asp29991Asn)
c.89404G>A (p.Asp29802Asn)
c.86746G>A (p.Asp28916Asn)
c.86665G>A (p.Asp28889Asn)
c.68428G>A (p.Asp22810Asn)
c.58282G>A (p.Asp19428Asn)
 dbSNP ExAC gnomAD v2
2g.178545578T>ACA430241708TTN,TTN-AS1c.87828A>T (p.Val29276=)
c.68913A>T (p.Val22971=)
c.68712A>T (p.Val22904=)
c.68337A>T (p.Val22779=)
c.95532A>T (p.Val31844=)
c.90609A>T (p.Val30203=)
n.446+21942T>A
n.2043+3217T>A
c.94629A>T (p.Val31543=)
c.68523A>T (p.Val22841=)
c.68382A>T (p.Val22794=)
c.94425A>T (p.Val31475=)
c.89823A>T (p.Val29941=)
c.89820A>T (p.Val29940=)
c.86862A>T (p.Val28954=)
c.68478A>T (p.Val22826=)
c.89973A>T (p.Val29991=)
c.89970A>T (p.Val29990=)
c.89403A>T (p.Val29801=)
c.86745A>T (p.Val28915=)
c.86664A>T (p.Val28888=)
c.68427A>T (p.Val22809=)
c.58281A>T (p.Val19427=)
2g.178545578T>CCA430241710TTN,TTN-AS1c.87828A>G (p.Val29276=)
c.68913A>G (p.Val22971=)
c.68712A>G (p.Val22904=)
c.68337A>G (p.Val22779=)
c.95532A>G (p.Val31844=)
c.90609A>G (p.Val30203=)
n.446+21942T>C
n.2043+3217T>C
c.94629A>G (p.Val31543=)
c.68523A>G (p.Val22841=)
c.68382A>G (p.Val22794=)
c.94425A>G (p.Val31475=)
c.89823A>G (p.Val29941=)
c.89820A>G (p.Val29940=)
c.86862A>G (p.Val28954=)
c.68478A>G (p.Val22826=)
c.89973A>G (p.Val29991=)
c.89970A>G (p.Val29990=)
c.89403A>G (p.Val29801=)
c.86745A>G (p.Val28915=)
c.86664A>G (p.Val28888=)
c.68427A>G (p.Val22809=)
c.58281A>G (p.Val19427=)
 gnomAD v4
2g.178545578T>GCA430241711TTN,TTN-AS1c.87828A>C (p.Val29276=)
c.68913A>C (p.Val22971=)
c.68712A>C (p.Val22904=)
c.68337A>C (p.Val22779=)
c.95532A>C (p.Val31844=)
c.90609A>C (p.Val30203=)
n.446+21942T>G
n.2043+3217T>G
c.94629A>C (p.Val31543=)
c.68523A>C (p.Val22841=)
c.68382A>C (p.Val22794=)
c.94425A>C (p.Val31475=)
c.89823A>C (p.Val29941=)
c.89820A>C (p.Val29940=)
c.86862A>C (p.Val28954=)
c.68478A>C (p.Val22826=)
c.89973A>C (p.Val29991=)
c.89970A>C (p.Val29990=)
c.89403A>C (p.Val29801=)
c.86745A>C (p.Val28915=)
c.86664A>C (p.Val28888=)
c.68427A>C (p.Val22809=)
c.58281A>C (p.Val19427=)
2g.178545579A=CA1310522295TTN,TTN-AS1c.87827T= (p.Val29276=)
c.68912T= (p.Val22971=)
c.68711T= (p.Val22904=)
c.68336T= (p.Val22779=)
c.95531T= (p.Val31844=)
c.90608T= (p.Val30203=)
n.446+21943A=
n.2043+3218A=
c.94628T= (p.Val31543=)
c.68522T= (p.Val22841=)
c.68381T= (p.Val22794=)
c.94424T= (p.Val31475=)
c.89822T= (p.Val29941=)
c.89819T= (p.Val29940=)
c.86861T= (p.Val28954=)
c.68477T= (p.Val22826=)
c.89972T= (p.Val29991=)
c.89969T= (p.Val29990=)
c.89402T= (p.Val29801=)
c.86744T= (p.Val28915=)
c.86663T= (p.Val28888=)
c.68426T= (p.Val22809=)
c.58280T= (p.Val19427=)
2g.178545579A>CCA349460549TTN,TTN-AS1c.87827T>G (p.Val29276Gly)
c.68912T>G (p.Val22971Gly)
c.68711T>G (p.Val22904Gly)
c.68336T>G (p.Val22779Gly)
c.95531T>G (p.Val31844Gly)
c.90608T>G (p.Val30203Gly)
n.446+21943A>C
n.2043+3218A>C
c.94628T>G (p.Val31543Gly)
c.68522T>G (p.Val22841Gly)
c.68381T>G (p.Val22794Gly)
c.94424T>G (p.Val31475Gly)
c.89822T>G (p.Val29941Gly)
c.89819T>G (p.Val29940Gly)
c.86861T>G (p.Val28954Gly)
c.68477T>G (p.Val22826Gly)
c.89972T>G (p.Val29991Gly)
c.89969T>G (p.Val29990Gly)
c.89402T>G (p.Val29801Gly)
c.86744T>G (p.Val28915Gly)
c.86663T>G (p.Val28888Gly)
c.68426T>G (p.Val22809Gly)
c.58280T>G (p.Val19427Gly)
2g.178545579A>GCA1986941TTN,TTN-AS1c.87827T>C (p.Val29276Ala)
c.68912T>C (p.Val22971Ala)
c.68711T>C (p.Val22904Ala)
c.68336T>C (p.Val22779Ala)
c.95531T>C (p.Val31844Ala)
c.90608T>C (p.Val30203Ala)
n.446+21943A>G
n.2043+3218A>G
c.94628T>C (p.Val31543Ala)
c.68522T>C (p.Val22841Ala)
c.68381T>C (p.Val22794Ala)
c.94424T>C (p.Val31475Ala)
c.89822T>C (p.Val29941Ala)
c.89819T>C (p.Val29940Ala)
c.86861T>C (p.Val28954Ala)
c.68477T>C (p.Val22826Ala)
c.89972T>C (p.Val29991Ala)
c.89969T>C (p.Val29990Ala)
c.89402T>C (p.Val29801Ala)
c.86744T>C (p.Val28915Ala)
c.86663T>C (p.Val28888Ala)
c.68426T>C (p.Val22809Ala)
c.58280T>C (p.Val19427Ala)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178545579A>TCA349460550TTN,TTN-AS1c.87827T>A (p.Val29276Glu)
c.68912T>A (p.Val22971Glu)
c.68711T>A (p.Val22904Glu)
c.68336T>A (p.Val22779Glu)
c.95531T>A (p.Val31844Glu)
c.90608T>A (p.Val30203Glu)
n.446+21943A>T
n.2043+3218A>T
c.94628T>A (p.Val31543Glu)
c.68522T>A (p.Val22841Glu)
c.68381T>A (p.Val22794Glu)
c.94424T>A (p.Val31475Glu)
c.89822T>A (p.Val29941Glu)
c.89819T>A (p.Val29940Glu)
c.86861T>A (p.Val28954Glu)
c.68477T>A (p.Val22826Glu)
c.89972T>A (p.Val29991Glu)
c.89969T>A (p.Val29990Glu)
c.89402T>A (p.Val29801Glu)
c.86744T>A (p.Val28915Glu)
c.86663T>A (p.Val28888Glu)
c.68426T>A (p.Val22809Glu)
c.58280T>A (p.Val19427Glu)
2g.178545580C>ACA349460553TTN,TTN-AS1c.87826G>T (p.Val29276Leu)
c.68911G>T (p.Val22971Leu)
c.68710G>T (p.Val22904Leu)
c.68335G>T (p.Val22779Leu)
c.95530G>T (p.Val31844Leu)
c.90607G>T (p.Val30203Leu)
n.446+21944C>A
n.2043+3219C>A
c.94627G>T (p.Val31543Leu)
c.68521G>T (p.Val22841Leu)
c.68380G>T (p.Val22794Leu)
c.94423G>T (p.Val31475Leu)
c.89821G>T (p.Val29941Leu)
c.89818G>T (p.Val29940Leu)
c.86860G>T (p.Val28954Leu)
c.68476G>T (p.Val22826Leu)
c.89971G>T (p.Val29991Leu)
c.89968G>T (p.Val29990Leu)
c.89401G>T (p.Val29801Leu)
c.86743G>T (p.Val28915Leu)
c.86662G>T (p.Val28888Leu)
c.68425G>T (p.Val22809Leu)
c.58279G>T (p.Val19427Leu)
2g.178545580C>GCA349460551TTN,TTN-AS1c.87826G>C (p.Val29276Leu)
c.68911G>C (p.Val22971Leu)
c.68710G>C (p.Val22904Leu)
c.68335G>C (p.Val22779Leu)
c.95530G>C (p.Val31844Leu)
c.90607G>C (p.Val30203Leu)
n.446+21944C>G
n.2043+3219C>G
c.94627G>C (p.Val31543Leu)
c.68521G>C (p.Val22841Leu)
c.68380G>C (p.Val22794Leu)
c.94423G>C (p.Val31475Leu)
c.89821G>C (p.Val29941Leu)
c.89818G>C (p.Val29940Leu)
c.86860G>C (p.Val28954Leu)
c.68476G>C (p.Val22826Leu)
c.89971G>C (p.Val29991Leu)
c.89968G>C (p.Val29990Leu)
c.89401G>C (p.Val29801Leu)
c.86743G>C (p.Val28915Leu)
c.86662G>C (p.Val28888Leu)
c.68425G>C (p.Val22809Leu)
c.58279G>C (p.Val19427Leu)
2g.178545580C>TCA349460552TTN,TTN-AS1c.87826G>A (p.Val29276Ile)
c.68911G>A (p.Val22971Ile)
c.68710G>A (p.Val22904Ile)
c.68335G>A (p.Val22779Ile)
c.95530G>A (p.Val31844Ile)
c.90607G>A (p.Val30203Ile)
n.446+21944C>T
n.2043+3219C>T
c.94627G>A (p.Val31543Ile)
c.68521G>A (p.Val22841Ile)
c.68380G>A (p.Val22794Ile)
c.94423G>A (p.Val31475Ile)
c.89821G>A (p.Val29941Ile)
c.89818G>A (p.Val29940Ile)
c.86860G>A (p.Val28954Ile)
c.68476G>A (p.Val22826Ile)
c.89971G>A (p.Val29991Ile)
c.89968G>A (p.Val29990Ile)
c.89401G>A (p.Val29801Ile)
c.86743G>A (p.Val28915Ile)
c.86662G>A (p.Val28888Ile)
c.68425G>A (p.Val22809Ile)
c.58279G>A (p.Val19427Ile)
 gnomAD v4
2g.178545581T>ACA430241717TTN,TTN-AS1c.87825A>T (p.Leu29275=)
c.68910A>T (p.Leu22970=)
c.68709A>T (p.Leu22903=)
c.68334A>T (p.Leu22778=)
c.95529A>T (p.Leu31843=)
c.90606A>T (p.Leu30202=)
n.446+21945T>A
n.2043+3220T>A
c.94626A>T (p.Leu31542=)
c.68520A>T (p.Leu22840=)
c.68379A>T (p.Leu22793=)
c.94422A>T (p.Leu31474=)
c.89820A>T (p.Leu29940=)
c.89817A>T (p.Leu29939=)
c.86859A>T (p.Leu28953=)
c.68475A>T (p.Leu22825=)
c.89970A>T (p.Leu29990=)
c.89967A>T (p.Leu29989=)
c.89400A>T (p.Leu29800=)
c.86742A>T (p.Leu28914=)
c.86661A>T (p.Leu28887=)
c.68424A>T (p.Leu22808=)
c.58278A>T (p.Leu19426=)
2g.178545581T>CCA430241719TTN,TTN-AS1c.87825A>G (p.Leu29275=)
c.68910A>G (p.Leu22970=)
c.68709A>G (p.Leu22903=)
c.68334A>G (p.Leu22778=)
c.95529A>G (p.Leu31843=)
c.90606A>G (p.Leu30202=)
n.446+21945T>C
n.2043+3220T>C
c.94626A>G (p.Leu31542=)
c.68520A>G (p.Leu22840=)
c.68379A>G (p.Leu22793=)
c.94422A>G (p.Leu31474=)
c.89820A>G (p.Leu29940=)
c.89817A>G (p.Leu29939=)
c.86859A>G (p.Leu28953=)
c.68475A>G (p.Leu22825=)
c.89970A>G (p.Leu29990=)
c.89967A>G (p.Leu29989=)
c.89400A>G (p.Leu29800=)
c.86742A>G (p.Leu28914=)
c.86661A>G (p.Leu28887=)
c.68424A>G (p.Leu22808=)
c.58278A>G (p.Leu19426=)
2g.178545581T>GCA430241718TTN,TTN-AS1c.87825A>C (p.Leu29275=)
c.68910A>C (p.Leu22970=)
c.68709A>C (p.Leu22903=)
c.68334A>C (p.Leu22778=)
c.95529A>C (p.Leu31843=)
c.90606A>C (p.Leu30202=)
n.446+21945T>G
n.2043+3220T>G
c.94626A>C (p.Leu31542=)
c.68520A>C (p.Leu22840=)
c.68379A>C (p.Leu22793=)
c.94422A>C (p.Leu31474=)
c.89820A>C (p.Leu29940=)
c.89817A>C (p.Leu29939=)
c.86859A>C (p.Leu28953=)
c.68475A>C (p.Leu22825=)
c.89970A>C (p.Leu29990=)
c.89967A>C (p.Leu29989=)
c.89400A>C (p.Leu29800=)
c.86742A>C (p.Leu28914=)
c.86661A>C (p.Leu28887=)
c.68424A>C (p.Leu22808=)
c.58278A>C (p.Leu19426=)
 dbSNP gnomAD v2 gnomAD v4
2g.178545581T=CA1310522297TTN,TTN-AS1c.87825A= (p.Leu29275=)
c.68910A= (p.Leu22970=)
c.68709A= (p.Leu22903=)
c.68334A= (p.Leu22778=)
c.95529A= (p.Leu31843=)
c.90606A= (p.Leu30202=)
n.446+21945T=
n.2043+3220T=
c.94626A= (p.Leu31542=)
c.68520A= (p.Leu22840=)
c.68379A= (p.Leu22793=)
c.94422A= (p.Leu31474=)
c.89820A= (p.Leu29940=)
c.89817A= (p.Leu29939=)
c.86859A= (p.Leu28953=)
c.68475A= (p.Leu22825=)
c.89970A= (p.Leu29990=)
c.89967A= (p.Leu29989=)
c.89400A= (p.Leu29800=)
c.86742A= (p.Leu28914=)
c.86661A= (p.Leu28887=)
c.68424A= (p.Leu22808=)
c.58278A= (p.Leu19426=)

Number of alleles fetched