Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.178526996A=CA1310514253TTN,TTN-AS1c.*16T= (n.*16T=)
n.446+3360A=
n.219+3360A=
2g.178526996A>GCA1039711022TTN,TTN-AS1c.*16T>C (n.*16T>C)
n.446+3360A>G
n.219+3360A>G
 dbSNP gnomAD v3 gnomAD v4
2g.178526997A=CA1310514254TTN,TTN-AS1c.*15T= (n.*15T=)
n.446+3361A=
n.219+3361A=
2g.178526997A>TCA1310514255TTN,TTN-AS1c.*15T>A (n.*15T>A)
n.446+3361A>T
n.219+3361A>T
 dbSNP gnomAD v4
2g.178526998G>TCA2531553648TTN,TTN-AS1c.*14C>A (n.*14C>A)
n.446+3362G>T
n.219+3362G>T
2g.178526999G>ACA2701024526TTN,TTN-AS1c.*13C>T (n.*13C>T)
n.446+3363G>A
n.219+3363G>A
 dbSNP
2g.178526999G=CA1310514256TTN,TTN-AS1c.*13C= (n.*13C=)
n.446+3363G=
n.219+3363G=
2g.178526999G>TCA1984849TTN,TTN-AS1c.*13C>A (n.*13C>A)
n.446+3363G>T
n.219+3363G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178527000G>ACA2662121432TTN,TTN-AS1c.*12C>T (n.*12C>T)
n.446+3364G>A
n.219+3364G>A
 gnomAD v4
2g.178527001C=CA1310514257TTN,TTN-AS1c.*11G= (n.*11G=)
n.446+3365C=
n.219+3365C=
2g.178527001C>TCA1039711023TTN,TTN-AS1c.*11G>A (n.*11G>A)
n.446+3365C>T
n.219+3365C>T
 dbSNP gnomAD v3 gnomAD v4
2g.178527002A=CA1310514258TTN,TTN-AS1c.*10T= (n.*10T=)
n.446+3366A=
n.219+3366A=
2g.178527002A>GCA538089810TTN,TTN-AS1c.*10T>C (n.*10T>C)
n.446+3366A>G
n.219+3366A>G
 dbSNP gnomAD v2 gnomAD v4
2g.178527002A>TCA1310514259TTN,TTN-AS1c.*10T>A (n.*10T>A)
n.446+3366A>T
n.219+3366A>T
 dbSNP
2g.178527003C=CA1310514260TTN,TTN-AS1c.*9G= (n.*9G=)
n.446+3367C=
n.219+3367C=
2g.178527003C>TCA1310514261TTN,TTN-AS1c.*9G>A (n.*9G>A)
n.446+3367C>T
n.219+3367C>T
 dbSNP gnomAD v4
2g.178527004A=CA1310514262TTN,TTN-AS1c.*8T= (n.*8T=)
n.446+3368A=
n.219+3368A=
2g.178527004A>CCA1039711024TTN,TTN-AS1c.*8T>G (n.*8T>G)
n.446+3368A>C
n.219+3368A>C
 dbSNP gnomAD v3 gnomAD v4
2g.178527004A>TCA2577170129TTN,TTN-AS1c.*8T>A (n.*8T>A)
n.446+3368A>T
n.219+3368A>T
2g.178527005G>ACA1984850TTN,TTN-AS1c.*7C>T (n.*7C>T)
n.446+3369G>A
n.219+3369G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178527005G=CA1310514263TTN,TTN-AS1c.*7C= (n.*7C=)
n.446+3369G=
n.219+3369G=
2g.178527006G>ACA538089811TTN,TTN-AS1c.*6C>T (n.*6C>T)
n.446+3370G>A
n.219+3370G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.178527006G>CCA2607822199TTN,TTN-AS1c.*6C>G (n.*6C>G)
n.446+3370G>C
n.219+3370G>C
 dbSNP gnomAD v4
2g.178527006G=CA1310514264TTN,TTN-AS1c.*6C= (n.*6C=)
n.446+3370G=
n.219+3370G=
2g.178527006G>TCA1984851TTN,TTN-AS1c.*6C>A (n.*6C>A)
n.446+3370G>T
n.219+3370G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178527007C>ACA2662121441TTN,TTN-AS1c.*5G>T (n.*5G>T)
n.446+3371C>A
n.219+3371C>A
 gnomAD v4
2g.178527007C=CA1310514265TTN,TTN-AS1c.*5G= (n.*5G=)
n.446+3371C=
n.219+3371C=
2g.178527007C>TCA761281427TTN,TTN-AS1c.*5G>A (n.*5G>A)
n.446+3371C>T
n.219+3371C>T
 dbSNP
2g.178527009C=CA1310514266TTN,TTN-AS1c.*3G= (n.*3G=)
n.446+3373C=
n.219+3373C=
2g.178527009C>GCA2662121442TTN,TTN-AS1c.*3G>C (n.*3G>C)
n.446+3373C>G
n.219+3373C>G
 gnomAD v4
2g.178527009C>TCA538089813TTN,TTN-AS1c.*3G>A (n.*3G>A)
n.446+3373C>T
n.219+3373C>T
 dbSNP gnomAD v2 gnomAD v4
2g.178527011C>ACA761281428TTN,TTN-AS1c.*1G>T (n.*1G>T)
n.446+3375C>A
n.219+3375C>A
 dbSNP
2g.178527011C=CA1310514267TTN,TTN-AS1c.*1G= (n.*1G=)
n.446+3375C=
n.219+3375C=
2g.178527011C>GCA538089815TTN,TTN-AS1c.*1G>C (n.*1G>C)
n.446+3375C>G
n.219+3375C>G
 dbSNP gnomAD v2 gnomAD v4
2g.178527012T>ACA349398134TTN,TTN-AS1c.100272A>T (p.Ter33424Tyr)
c.81357A>T (p.Ter27119Tyr)
c.81156A>T (p.Ter27052Tyr)
c.80781A>T (p.Ter26927Tyr)
c.107976A>T (p.Ter35992Tyr)
c.103053A>T (p.Ter34351Tyr)
n.446+3376T>A
n.219+3376T>A
c.107073A>T (p.Ter35691Tyr)
c.80967A>T (p.Ter26989Tyr)
c.80826A>T (p.Ter26942Tyr)
c.106869A>T (p.Ter35623Tyr)
c.102267A>T (p.Ter34089Tyr)
c.102264A>T (p.Ter34088Tyr)
c.99306A>T (p.Ter33102Tyr)
c.80922A>T (p.Ter26974Tyr)
c.102417A>T (p.Ter34139Tyr)
c.102414A>T (p.Ter34138Tyr)
c.101847A>T (p.Ter33949Tyr)
c.99189A>T (p.Ter33063Tyr)
c.99108A>T (p.Ter33036Tyr)
c.80871A>T (p.Ter26957Tyr)
c.70725A>T (p.Ter23575Tyr)
2g.178527012T>CCA1984852TTN,TTN-AS1c.100272A>G (p.Ter33424=)
c.81357A>G (p.Ter27119=)
c.81156A>G (p.Ter27052=)
c.80781A>G (p.Ter26927=)
c.107976A>G (p.Ter35992=)
c.103053A>G (p.Ter34351=)
n.446+3376T>C
n.219+3376T>C
c.107073A>G (p.Ter35691=)
c.80967A>G (p.Ter26989=)
c.80826A>G (p.Ter26942=)
c.106869A>G (p.Ter35623=)
c.102267A>G (p.Ter34089=)
c.102264A>G (p.Ter34088=)
c.99306A>G (p.Ter33102=)
c.80922A>G (p.Ter26974=)
c.102417A>G (p.Ter34139=)
c.102414A>G (p.Ter34138=)
c.101847A>G (p.Ter33949=)
c.99189A>G (p.Ter33063=)
c.99108A>G (p.Ter33036=)
c.80871A>G (p.Ter26957=)
c.70725A>G (p.Ter23575=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178527012T>GCA349398135TTN,TTN-AS1c.100272A>C (p.Ter33424Tyr)
c.81357A>C (p.Ter27119Tyr)
c.81156A>C (p.Ter27052Tyr)
c.80781A>C (p.Ter26927Tyr)
c.107976A>C (p.Ter35992Tyr)
c.103053A>C (p.Ter34351Tyr)
n.446+3376T>G
n.219+3376T>G
c.107073A>C (p.Ter35691Tyr)
c.80967A>C (p.Ter26989Tyr)
c.80826A>C (p.Ter26942Tyr)
c.106869A>C (p.Ter35623Tyr)
c.102267A>C (p.Ter34089Tyr)
c.102264A>C (p.Ter34088Tyr)
c.99306A>C (p.Ter33102Tyr)
c.80922A>C (p.Ter26974Tyr)
c.102417A>C (p.Ter34139Tyr)
c.102414A>C (p.Ter34138Tyr)
c.101847A>C (p.Ter33949Tyr)
c.99189A>C (p.Ter33063Tyr)
c.99108A>C (p.Ter33036Tyr)
c.80871A>C (p.Ter26957Tyr)
c.70725A>C (p.Ter23575Tyr)
2g.178527012T=CA1310514268TTN,TTN-AS1c.100272A= (p.Ter33424=)
c.81357A= (p.Ter27119=)
c.81156A= (p.Ter27052=)
c.80781A= (p.Ter26927=)
c.107976A= (p.Ter35992=)
c.103053A= (p.Ter34351=)
n.446+3376T=
n.219+3376T=
c.107073A= (p.Ter35691=)
c.80967A= (p.Ter26989=)
c.80826A= (p.Ter26942=)
c.106869A= (p.Ter35623=)
c.102267A= (p.Ter34089=)
c.102264A= (p.Ter34088=)
c.99306A= (p.Ter33102=)
c.80922A= (p.Ter26974=)
c.102417A= (p.Ter34139=)
c.102414A= (p.Ter34138=)
c.101847A= (p.Ter33949=)
c.99189A= (p.Ter33063=)
c.99108A= (p.Ter33036=)
c.80871A= (p.Ter26957=)
c.70725A= (p.Ter23575=)
2g.178527013T>ACA349398136TTN,TTN-AS1c.100271A>T (p.Ter33424Leu)
c.81356A>T (p.Ter27119Leu)
c.81155A>T (p.Ter27052Leu)
c.80780A>T (p.Ter26927Leu)
c.107975A>T (p.Ter35992Leu)
c.103052A>T (p.Ter34351Leu)
n.446+3377T>A
n.219+3377T>A
c.107072A>T (p.Ter35691Leu)
c.80966A>T (p.Ter26989Leu)
c.80825A>T (p.Ter26942Leu)
c.106868A>T (p.Ter35623Leu)
c.102266A>T (p.Ter34089Leu)
c.102263A>T (p.Ter34088Leu)
c.99305A>T (p.Ter33102Leu)
c.80921A>T (p.Ter26974Leu)
c.102416A>T (p.Ter34139Leu)
c.102413A>T (p.Ter34138Leu)
c.101846A>T (p.Ter33949Leu)
c.99188A>T (p.Ter33063Leu)
c.99107A>T (p.Ter33036Leu)
c.80870A>T (p.Ter26957Leu)
c.70724A>T (p.Ter23575Leu)
2g.178527013T>CCA430091448TTN,TTN-AS1c.100271A>G (p.Ter33424=)
c.81356A>G (p.Ter27119=)
c.81155A>G (p.Ter27052=)
c.80780A>G (p.Ter26927=)
c.107975A>G (p.Ter35992=)
c.103052A>G (p.Ter34351=)
n.446+3377T>C
n.219+3377T>C
c.107072A>G (p.Ter35691=)
c.80966A>G (p.Ter26989=)
c.80825A>G (p.Ter26942=)
c.106868A>G (p.Ter35623=)
c.102266A>G (p.Ter34089=)
c.102263A>G (p.Ter34088=)
c.99305A>G (p.Ter33102=)
c.80921A>G (p.Ter26974=)
c.102416A>G (p.Ter34139=)
c.102413A>G (p.Ter34138=)
c.101846A>G (p.Ter33949=)
c.99188A>G (p.Ter33063=)
c.99107A>G (p.Ter33036=)
c.80870A>G (p.Ter26957=)
c.70724A>G (p.Ter23575=)
 ClinVar dbSNP
2g.178527013T>GCA349398137TTN,TTN-AS1c.100271A>C (p.Ter33424Ser)
c.81356A>C (p.Ter27119Ser)
c.81155A>C (p.Ter27052Ser)
c.80780A>C (p.Ter26927Ser)
c.107975A>C (p.Ter35992Ser)
c.103052A>C (p.Ter34351Ser)
n.446+3377T>G
n.219+3377T>G
c.107072A>C (p.Ter35691Ser)
c.80966A>C (p.Ter26989Ser)
c.80825A>C (p.Ter26942Ser)
c.106868A>C (p.Ter35623Ser)
c.102266A>C (p.Ter34089Ser)
c.102263A>C (p.Ter34088Ser)
c.99305A>C (p.Ter33102Ser)
c.80921A>C (p.Ter26974Ser)
c.102416A>C (p.Ter34139Ser)
c.102413A>C (p.Ter34138Ser)
c.101846A>C (p.Ter33949Ser)
c.99188A>C (p.Ter33063Ser)
c.99107A>C (p.Ter33036Ser)
c.80870A>C (p.Ter26957Ser)
c.70724A>C (p.Ter23575Ser)
2g.178527014A=CA1310514269TTN,TTN-AS1c.100270T= (p.Ter33424=)
c.81355T= (p.Ter27119=)
c.81154T= (p.Ter27052=)
c.80779T= (p.Ter26927=)
c.107974T= (p.Ter35992=)
c.103051T= (p.Ter34351=)
n.446+3378A=
n.219+3378A=
c.107071T= (p.Ter35691=)
c.80965T= (p.Ter26989=)
c.80824T= (p.Ter26942=)
c.106867T= (p.Ter35623=)
c.102265T= (p.Ter34089=)
c.102262T= (p.Ter34088=)
c.99304T= (p.Ter33102=)
c.80920T= (p.Ter26974=)
c.102415T= (p.Ter34139=)
c.102412T= (p.Ter34138=)
c.101845T= (p.Ter33949=)
c.99187T= (p.Ter33063=)
c.99106T= (p.Ter33036=)
c.80869T= (p.Ter26957=)
c.70723T= (p.Ter23575=)
2g.178527014A>CCA349398138TTN,TTN-AS1c.100270T>G (p.Ter33424Glu)
c.81355T>G (p.Ter27119Glu)
c.81154T>G (p.Ter27052Glu)
c.80779T>G (p.Ter26927Glu)
c.107974T>G (p.Ter35992Glu)
c.103051T>G (p.Ter34351Glu)
n.446+3378A>C
n.219+3378A>C
c.107071T>G (p.Ter35691Glu)
c.80965T>G (p.Ter26989Glu)
c.80824T>G (p.Ter26942Glu)
c.106867T>G (p.Ter35623Glu)
c.102265T>G (p.Ter34089Glu)
c.102262T>G (p.Ter34088Glu)
c.99304T>G (p.Ter33102Glu)
c.80920T>G (p.Ter26974Glu)
c.102415T>G (p.Ter34139Glu)
c.102412T>G (p.Ter34138Glu)
c.101845T>G (p.Ter33949Glu)
c.99187T>G (p.Ter33063Glu)
c.99106T>G (p.Ter33036Glu)
c.80869T>G (p.Ter26957Glu)
c.70723T>G (p.Ter23575Glu)
2g.178527014A>GCA349398139TTN,TTN-AS1c.100270T>C (p.Ter33424Gln)
c.81355T>C (p.Ter27119Gln)
c.81154T>C (p.Ter27052Gln)
c.80779T>C (p.Ter26927Gln)
c.107974T>C (p.Ter35992Gln)
c.103051T>C (p.Ter34351Gln)
n.446+3378A>G
n.219+3378A>G
c.107071T>C (p.Ter35691Gln)
c.80965T>C (p.Ter26989Gln)
c.80824T>C (p.Ter26942Gln)
c.106867T>C (p.Ter35623Gln)
c.102265T>C (p.Ter34089Gln)
c.102262T>C (p.Ter34088Gln)
c.99304T>C (p.Ter33102Gln)
c.80920T>C (p.Ter26974Gln)
c.102415T>C (p.Ter34139Gln)
c.102412T>C (p.Ter34138Gln)
c.101845T>C (p.Ter33949Gln)
c.99187T>C (p.Ter33063Gln)
c.99106T>C (p.Ter33036Gln)
c.80869T>C (p.Ter26957Gln)
c.70723T>C (p.Ter23575Gln)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.178527014A>TCA349398140TTN,TTN-AS1c.100270T>A (p.Ter33424Lys)
c.81355T>A (p.Ter27119Lys)
c.81154T>A (p.Ter27052Lys)
c.80779T>A (p.Ter26927Lys)
c.107974T>A (p.Ter35992Lys)
c.103051T>A (p.Ter34351Lys)
n.446+3378A>T
n.219+3378A>T
c.107071T>A (p.Ter35691Lys)
c.80965T>A (p.Ter26989Lys)
c.80824T>A (p.Ter26942Lys)
c.106867T>A (p.Ter35623Lys)
c.102265T>A (p.Ter34089Lys)
c.102262T>A (p.Ter34088Lys)
c.99304T>A (p.Ter33102Lys)
c.80920T>A (p.Ter26974Lys)
c.102415T>A (p.Ter34139Lys)
c.102412T>A (p.Ter34138Lys)
c.101845T>A (p.Ter33949Lys)
c.99187T>A (p.Ter33063Lys)
c.99106T>A (p.Ter33036Lys)
c.80869T>A (p.Ter26957Lys)
c.70723T>A (p.Ter23575Lys)
2g.178527015A>CCA349398141TTN,TTN-AS1c.100269T>G (p.Ile33423Met)
c.81354T>G (p.Ile27118Met)
c.81153T>G (p.Ile27051Met)
c.80778T>G (p.Ile26926Met)
c.107973T>G (p.Ile35991Met)
c.103050T>G (p.Ile34350Met)
n.446+3379A>C
n.219+3379A>C
c.107070T>G (p.Ile35690Met)
c.80964T>G (p.Ile26988Met)
c.80823T>G (p.Ile26941Met)
c.106866T>G (p.Ile35622Met)
c.102264T>G (p.Ile34088Met)
c.102261T>G (p.Ile34087Met)
c.99303T>G (p.Ile33101Met)
c.80919T>G (p.Ile26973Met)
c.102414T>G (p.Ile34138Met)
c.102411T>G (p.Ile34137Met)
c.101844T>G (p.Ile33948Met)
c.99186T>G (p.Ile33062Met)
c.99105T>G (p.Ile33035Met)
c.80868T>G (p.Ile26956Met)
c.70722T>G (p.Ile23574Met)
2g.178527015A>GCA430091449TTN,TTN-AS1c.100269T>C (p.Ile33423=)
c.81354T>C (p.Ile27118=)
c.81153T>C (p.Ile27051=)
c.80778T>C (p.Ile26926=)
c.107973T>C (p.Ile35991=)
c.103050T>C (p.Ile34350=)
n.446+3379A>G
n.219+3379A>G
c.107070T>C (p.Ile35690=)
c.80964T>C (p.Ile26988=)
c.80823T>C (p.Ile26941=)
c.106866T>C (p.Ile35622=)
c.102264T>C (p.Ile34088=)
c.102261T>C (p.Ile34087=)
c.99303T>C (p.Ile33101=)
c.80919T>C (p.Ile26973=)
c.102414T>C (p.Ile34138=)
c.102411T>C (p.Ile34137=)
c.101844T>C (p.Ile33948=)
c.99186T>C (p.Ile33062=)
c.99105T>C (p.Ile33035=)
c.80868T>C (p.Ile26956=)
c.70722T>C (p.Ile23574=)
2g.178527015A>TCA430091450TTN,TTN-AS1c.100269T>A (p.Ile33423=)
c.81354T>A (p.Ile27118=)
c.81153T>A (p.Ile27051=)
c.80778T>A (p.Ile26926=)
c.107973T>A (p.Ile35991=)
c.103050T>A (p.Ile34350=)
n.446+3379A>T
n.219+3379A>T
c.107070T>A (p.Ile35690=)
c.80964T>A (p.Ile26988=)
c.80823T>A (p.Ile26941=)
c.106866T>A (p.Ile35622=)
c.102264T>A (p.Ile34088=)
c.102261T>A (p.Ile34087=)
c.99303T>A (p.Ile33101=)
c.80919T>A (p.Ile26973=)
c.102414T>A (p.Ile34138=)
c.102411T>A (p.Ile34137=)
c.101844T>A (p.Ile33948=)
c.99186T>A (p.Ile33062=)
c.99105T>A (p.Ile33035=)
c.80868T>A (p.Ile26956=)
c.70722T>A (p.Ile23574=)
2g.178527016A>CCA349398142TTN,TTN-AS1c.100268T>G (p.Ile33423Ser)
c.81353T>G (p.Ile27118Ser)
c.81152T>G (p.Ile27051Ser)
c.80777T>G (p.Ile26926Ser)
c.107972T>G (p.Ile35991Ser)
c.103049T>G (p.Ile34350Ser)
n.446+3380A>C
n.219+3380A>C
c.107069T>G (p.Ile35690Ser)
c.80963T>G (p.Ile26988Ser)
c.80822T>G (p.Ile26941Ser)
c.106865T>G (p.Ile35622Ser)
c.102263T>G (p.Ile34088Ser)
c.102260T>G (p.Ile34087Ser)
c.99302T>G (p.Ile33101Ser)
c.80918T>G (p.Ile26973Ser)
c.102413T>G (p.Ile34138Ser)
c.102410T>G (p.Ile34137Ser)
c.101843T>G (p.Ile33948Ser)
c.99185T>G (p.Ile33062Ser)
c.99104T>G (p.Ile33035Ser)
c.80867T>G (p.Ile26956Ser)
c.70721T>G (p.Ile23574Ser)
2g.178527016A>GCA349398143TTN,TTN-AS1c.100268T>C (p.Ile33423Thr)
c.81353T>C (p.Ile27118Thr)
c.81152T>C (p.Ile27051Thr)
c.80777T>C (p.Ile26926Thr)
c.107972T>C (p.Ile35991Thr)
c.103049T>C (p.Ile34350Thr)
n.446+3380A>G
n.219+3380A>G
c.107069T>C (p.Ile35690Thr)
c.80963T>C (p.Ile26988Thr)
c.80822T>C (p.Ile26941Thr)
c.106865T>C (p.Ile35622Thr)
c.102263T>C (p.Ile34088Thr)
c.102260T>C (p.Ile34087Thr)
c.99302T>C (p.Ile33101Thr)
c.80918T>C (p.Ile26973Thr)
c.102413T>C (p.Ile34138Thr)
c.102410T>C (p.Ile34137Thr)
c.101843T>C (p.Ile33948Thr)
c.99185T>C (p.Ile33062Thr)
c.99104T>C (p.Ile33035Thr)
c.80867T>C (p.Ile26956Thr)
c.70721T>C (p.Ile23574Thr)
2g.178527016A>TCA349398144TTN,TTN-AS1c.100268T>A (p.Ile33423Asn)
c.81353T>A (p.Ile27118Asn)
c.81152T>A (p.Ile27051Asn)
c.80777T>A (p.Ile26926Asn)
c.107972T>A (p.Ile35991Asn)
c.103049T>A (p.Ile34350Asn)
n.446+3380A>T
n.219+3380A>T
c.107069T>A (p.Ile35690Asn)
c.80963T>A (p.Ile26988Asn)
c.80822T>A (p.Ile26941Asn)
c.106865T>A (p.Ile35622Asn)
c.102263T>A (p.Ile34088Asn)
c.102260T>A (p.Ile34087Asn)
c.99302T>A (p.Ile33101Asn)
c.80918T>A (p.Ile26973Asn)
c.102413T>A (p.Ile34138Asn)
c.102410T>A (p.Ile34137Asn)
c.101843T>A (p.Ile33948Asn)
c.99185T>A (p.Ile33062Asn)
c.99104T>A (p.Ile33035Asn)
c.80867T>A (p.Ile26956Asn)
c.70721T>A (p.Ile23574Asn)
2g.178527016_178527017delinsATCA1310514270TTN,TTN-AS1c.100267_100268delinsAT (p.Ile33423=)
c.81352_81353delinsAT (p.Ile27118=)
c.81151_81152delinsAT (p.Ile27051=)
c.80776_80777delinsAT (p.Ile26926=)
c.107971_107972delinsAT (p.Ile35991=)
c.103048_103049delinsAT (p.Ile34350=)
n.446+3380_446+3381delinsAT
n.219+3380_219+3381delinsAT
c.107068_107069delinsAT (p.Ile35690=)
c.80962_80963delinsAT (p.Ile26988=)
c.80821_80822delinsAT (p.Ile26941=)
c.106864_106865delinsAT (p.Ile35622=)
c.102262_102263delinsAT (p.Ile34088=)
c.102259_102260delinsAT (p.Ile34087=)
c.99301_99302delinsAT (p.Ile33101=)
c.80917_80918delinsAT (p.Ile26973=)
c.102412_102413delinsAT (p.Ile34138=)
c.102409_102410delinsAT (p.Ile34137=)
c.101842_101843delinsAT (p.Ile33948=)
c.99184_99185delinsAT (p.Ile33062=)
c.99103_99104delinsAT (p.Ile33035=)
c.80866_80867delinsAT (p.Ile26956=)
c.70720_70721delinsAT (p.Ile23574=)
2g.178527017delCA237589TTN,TTN-AS1c.100267del (p.Ile33423PhefsTer14)
c.81352del (p.Ile27118PhefsTer?)
c.81151del (p.Ile27051PhefsTer?)
c.81352del (p.Ile27118PhefsTer14)
c.81151del (p.Ile27051PhefsTer14)
c.80776del (p.Ile26926PhefsTer14)
c.107971del (p.Ile35991PhefsTer14)
c.103048del (p.Ile34350PhefsTer14)
n.446+3381del
n.219+3381del
c.107068del (p.Ile35690PhefsTer14)
c.80962del (p.Ile26988PhefsTer14)
c.80821del (p.Ile26941PhefsTer14)
c.106864del (p.Ile35622PhefsTer14)
c.102262del (p.Ile34088PhefsTer14)
c.102259del (p.Ile34087PhefsTer14)
c.99301del (p.Ile33101PhefsTer14)
c.80917del (p.Ile26973PhefsTer14)
c.102412del (p.Ile34138PhefsTer14)
c.102409del (p.Ile34137PhefsTer14)
c.101842del (p.Ile33948PhefsTer14)
c.99184del (p.Ile33062PhefsTer14)
c.99103del (p.Ile33035PhefsTer14)
c.80866del (p.Ile26956PhefsTer14)
c.70720del (p.Ile23574PhefsTer14)
 ClinVar dbSNP
2g.178527017T>ACA349398146TTN,TTN-AS1c.100267A>T (p.Ile33423Phe)
c.81352A>T (p.Ile27118Phe)
c.81151A>T (p.Ile27051Phe)
c.80776A>T (p.Ile26926Phe)
c.107971A>T (p.Ile35991Phe)
c.103048A>T (p.Ile34350Phe)
n.446+3381T>A
n.219+3381T>A
c.107068A>T (p.Ile35690Phe)
c.80962A>T (p.Ile26988Phe)
c.80821A>T (p.Ile26941Phe)
c.106864A>T (p.Ile35622Phe)
c.102262A>T (p.Ile34088Phe)
c.102259A>T (p.Ile34087Phe)
c.99301A>T (p.Ile33101Phe)
c.80917A>T (p.Ile26973Phe)
c.102412A>T (p.Ile34138Phe)
c.102409A>T (p.Ile34137Phe)
c.101842A>T (p.Ile33948Phe)
c.99184A>T (p.Ile33062Phe)
c.99103A>T (p.Ile33035Phe)
c.80866A>T (p.Ile26956Phe)
c.70720A>T (p.Ile23574Phe)
2g.178527017T>CCA349398147TTN,TTN-AS1c.100267A>G (p.Ile33423Val)
c.81352A>G (p.Ile27118Val)
c.81151A>G (p.Ile27051Val)
c.80776A>G (p.Ile26926Val)
c.107971A>G (p.Ile35991Val)
c.103048A>G (p.Ile34350Val)
n.446+3381T>C
n.219+3381T>C
c.107068A>G (p.Ile35690Val)
c.80962A>G (p.Ile26988Val)
c.80821A>G (p.Ile26941Val)
c.106864A>G (p.Ile35622Val)
c.102262A>G (p.Ile34088Val)
c.102259A>G (p.Ile34087Val)
c.99301A>G (p.Ile33101Val)
c.80917A>G (p.Ile26973Val)
c.102412A>G (p.Ile34138Val)
c.102409A>G (p.Ile34137Val)
c.101842A>G (p.Ile33948Val)
c.99184A>G (p.Ile33062Val)
c.99103A>G (p.Ile33035Val)
c.80866A>G (p.Ile26956Val)
c.70720A>G (p.Ile23574Val)
2g.178527017T>GCA349398145TTN,TTN-AS1c.100267A>C (p.Ile33423Leu)
c.81352A>C (p.Ile27118Leu)
c.81151A>C (p.Ile27051Leu)
c.80776A>C (p.Ile26926Leu)
c.107971A>C (p.Ile35991Leu)
c.103048A>C (p.Ile34350Leu)
n.446+3381T>G
n.219+3381T>G
c.107068A>C (p.Ile35690Leu)
c.80962A>C (p.Ile26988Leu)
c.80821A>C (p.Ile26941Leu)
c.106864A>C (p.Ile35622Leu)
c.102262A>C (p.Ile34088Leu)
c.102259A>C (p.Ile34087Leu)
c.99301A>C (p.Ile33101Leu)
c.80917A>C (p.Ile26973Leu)
c.102412A>C (p.Ile34138Leu)
c.102409A>C (p.Ile34137Leu)
c.101842A>C (p.Ile33948Leu)
c.99184A>C (p.Ile33062Leu)
c.99103A>C (p.Ile33035Leu)
c.80866A>C (p.Ile26956Leu)
c.70720A>C (p.Ile23574Leu)
2g.178527018G>ACA430091451TTN,TTN-AS1c.100266C>T (p.Ser33422=)
c.81351C>T (p.Ser27117=)
c.81150C>T (p.Ser27050=)
c.80775C>T (p.Ser26925=)
c.107970C>T (p.Ser35990=)
c.103047C>T (p.Ser34349=)
n.446+3382G>A
n.219+3382G>A
c.107067C>T (p.Ser35689=)
c.80961C>T (p.Ser26987=)
c.80820C>T (p.Ser26940=)
c.106863C>T (p.Ser35621=)
c.102261C>T (p.Ser34087=)
c.102258C>T (p.Ser34086=)
c.99300C>T (p.Ser33100=)
c.80916C>T (p.Ser26972=)
c.102411C>T (p.Ser34137=)
c.102408C>T (p.Ser34136=)
c.101841C>T (p.Ser33947=)
c.99183C>T (p.Ser33061=)
c.99102C>T (p.Ser33034=)
c.80865C>T (p.Ser26955=)
c.70719C>T (p.Ser23573=)
2g.178527018G>CCA430091453TTN,TTN-AS1c.100266C>G (p.Ser33422=)
c.81351C>G (p.Ser27117=)
c.81150C>G (p.Ser27050=)
c.80775C>G (p.Ser26925=)
c.107970C>G (p.Ser35990=)
c.103047C>G (p.Ser34349=)
n.446+3382G>C
n.219+3382G>C
c.107067C>G (p.Ser35689=)
c.80961C>G (p.Ser26987=)
c.80820C>G (p.Ser26940=)
c.106863C>G (p.Ser35621=)
c.102261C>G (p.Ser34087=)
c.102258C>G (p.Ser34086=)
c.99300C>G (p.Ser33100=)
c.80916C>G (p.Ser26972=)
c.102411C>G (p.Ser34137=)
c.102408C>G (p.Ser34136=)
c.101841C>G (p.Ser33947=)
c.99183C>G (p.Ser33061=)
c.99102C>G (p.Ser33034=)
c.80865C>G (p.Ser26955=)
c.70719C>G (p.Ser23573=)
2g.178527018G>TCA430091452TTN,TTN-AS1c.100266C>A (p.Ser33422=)
c.81351C>A (p.Ser27117=)
c.81150C>A (p.Ser27050=)
c.80775C>A (p.Ser26925=)
c.107970C>A (p.Ser35990=)
c.103047C>A (p.Ser34349=)
n.446+3382G>T
n.219+3382G>T
c.107067C>A (p.Ser35689=)
c.80961C>A (p.Ser26987=)
c.80820C>A (p.Ser26940=)
c.106863C>A (p.Ser35621=)
c.102261C>A (p.Ser34087=)
c.102258C>A (p.Ser34086=)
c.99300C>A (p.Ser33100=)
c.80916C>A (p.Ser26972=)
c.102411C>A (p.Ser34137=)
c.102408C>A (p.Ser34136=)
c.101841C>A (p.Ser33947=)
c.99183C>A (p.Ser33061=)
c.99102C>A (p.Ser33034=)
c.80865C>A (p.Ser26955=)
c.70719C>A (p.Ser23573=)
2g.178527019delCA2586970709TTN,TTN-AS1c.100266del (p.Ile33423PhefsTer14)
c.81351del (p.Ile27118PhefsTer?)
c.81150del (p.Ile27051PhefsTer?)
c.81351del (p.Ile27118PhefsTer14)
c.81150del (p.Ile27051PhefsTer14)
c.80775del (p.Ile26926PhefsTer14)
c.107970del (p.Ile35991PhefsTer14)
c.103047del (p.Ile34350PhefsTer14)
n.446+3383del
n.219+3383del
c.107067del (p.Ile35690PhefsTer14)
c.80961del (p.Ile26988PhefsTer14)
c.80820del (p.Ile26941PhefsTer14)
c.106863del (p.Ile35622PhefsTer14)
c.102261del (p.Ile34088PhefsTer14)
c.102258del (p.Ile34087PhefsTer14)
c.99300del (p.Ile33101PhefsTer14)
c.80916del (p.Ile26973PhefsTer14)
c.102411del (p.Ile34138PhefsTer14)
c.102408del (p.Ile34137PhefsTer14)
c.101841del (p.Ile33948PhefsTer14)
c.99183del (p.Ile33062PhefsTer14)
c.99102del (p.Ile33035PhefsTer14)
c.80865del (p.Ile26956PhefsTer14)
c.70719del (p.Ile23574PhefsTer14)
2g.178527019G>ACA349398150TTN,TTN-AS1c.100265C>T (p.Ser33422Phe)
c.81350C>T (p.Ser27117Phe)
c.81149C>T (p.Ser27050Phe)
c.80774C>T (p.Ser26925Phe)
c.107969C>T (p.Ser35990Phe)
c.103046C>T (p.Ser34349Phe)
n.446+3383G>A
n.219+3383G>A
c.107066C>T (p.Ser35689Phe)
c.80960C>T (p.Ser26987Phe)
c.80819C>T (p.Ser26940Phe)
c.106862C>T (p.Ser35621Phe)
c.102260C>T (p.Ser34087Phe)
c.102257C>T (p.Ser34086Phe)
c.99299C>T (p.Ser33100Phe)
c.80915C>T (p.Ser26972Phe)
c.102410C>T (p.Ser34137Phe)
c.102407C>T (p.Ser34136Phe)
c.101840C>T (p.Ser33947Phe)
c.99182C>T (p.Ser33061Phe)
c.99101C>T (p.Ser33034Phe)
c.80864C>T (p.Ser26955Phe)
c.70718C>T (p.Ser23573Phe)
2g.178527019G>CCA349398148TTN,TTN-AS1c.100265C>G (p.Ser33422Cys)
c.81350C>G (p.Ser27117Cys)
c.81149C>G (p.Ser27050Cys)
c.80774C>G (p.Ser26925Cys)
c.107969C>G (p.Ser35990Cys)
c.103046C>G (p.Ser34349Cys)
n.446+3383G>C
n.219+3383G>C
c.107066C>G (p.Ser35689Cys)
c.80960C>G (p.Ser26987Cys)
c.80819C>G (p.Ser26940Cys)
c.106862C>G (p.Ser35621Cys)
c.102260C>G (p.Ser34087Cys)
c.102257C>G (p.Ser34086Cys)
c.99299C>G (p.Ser33100Cys)
c.80915C>G (p.Ser26972Cys)
c.102410C>G (p.Ser34137Cys)
c.102407C>G (p.Ser34136Cys)
c.101840C>G (p.Ser33947Cys)
c.99182C>G (p.Ser33061Cys)
c.99101C>G (p.Ser33034Cys)
c.80864C>G (p.Ser26955Cys)
c.70718C>G (p.Ser23573Cys)
2g.178527019G>TCA349398149TTN,TTN-AS1c.100265C>A (p.Ser33422Tyr)
c.81350C>A (p.Ser27117Tyr)
c.81149C>A (p.Ser27050Tyr)
c.80774C>A (p.Ser26925Tyr)
c.107969C>A (p.Ser35990Tyr)
c.103046C>A (p.Ser34349Tyr)
n.446+3383G>T
n.219+3383G>T
c.107066C>A (p.Ser35689Tyr)
c.80960C>A (p.Ser26987Tyr)
c.80819C>A (p.Ser26940Tyr)
c.106862C>A (p.Ser35621Tyr)
c.102260C>A (p.Ser34087Tyr)
c.102257C>A (p.Ser34086Tyr)
c.99299C>A (p.Ser33100Tyr)
c.80915C>A (p.Ser26972Tyr)
c.102410C>A (p.Ser34137Tyr)
c.102407C>A (p.Ser34136Tyr)
c.101840C>A (p.Ser33947Tyr)
c.99182C>A (p.Ser33061Tyr)
c.99101C>A (p.Ser33034Tyr)
c.80864C>A (p.Ser26955Tyr)
c.70718C>A (p.Ser23573Tyr)
2g.178527020A>CCA349398151TTN,TTN-AS1c.100264T>G (p.Ser33422Ala)
c.81349T>G (p.Ser27117Ala)
c.81148T>G (p.Ser27050Ala)
c.80773T>G (p.Ser26925Ala)
c.107968T>G (p.Ser35990Ala)
c.103045T>G (p.Ser34349Ala)
n.446+3384A>C
n.219+3384A>C
c.107065T>G (p.Ser35689Ala)
c.80959T>G (p.Ser26987Ala)
c.80818T>G (p.Ser26940Ala)
c.106861T>G (p.Ser35621Ala)
c.102259T>G (p.Ser34087Ala)
c.102256T>G (p.Ser34086Ala)
c.99298T>G (p.Ser33100Ala)
c.80914T>G (p.Ser26972Ala)
c.102409T>G (p.Ser34137Ala)
c.102406T>G (p.Ser34136Ala)
c.101839T>G (p.Ser33947Ala)
c.99181T>G (p.Ser33061Ala)
c.99100T>G (p.Ser33034Ala)
c.80863T>G (p.Ser26955Ala)
c.70717T>G (p.Ser23573Ala)
2g.178527020A>GCA349398152TTN,TTN-AS1c.100264T>C (p.Ser33422Pro)
c.81349T>C (p.Ser27117Pro)
c.81148T>C (p.Ser27050Pro)
c.80773T>C (p.Ser26925Pro)
c.107968T>C (p.Ser35990Pro)
c.103045T>C (p.Ser34349Pro)
n.446+3384A>G
n.219+3384A>G
c.107065T>C (p.Ser35689Pro)
c.80959T>C (p.Ser26987Pro)
c.80818T>C (p.Ser26940Pro)
c.106861T>C (p.Ser35621Pro)
c.102259T>C (p.Ser34087Pro)
c.102256T>C (p.Ser34086Pro)
c.99298T>C (p.Ser33100Pro)
c.80914T>C (p.Ser26972Pro)
c.102409T>C (p.Ser34137Pro)
c.102406T>C (p.Ser34136Pro)
c.101839T>C (p.Ser33947Pro)
c.99181T>C (p.Ser33061Pro)
c.99100T>C (p.Ser33034Pro)
c.80863T>C (p.Ser26955Pro)
c.70717T>C (p.Ser23573Pro)
2g.178527020A>TCA349398153TTN,TTN-AS1c.100264T>A (p.Ser33422Thr)
c.81349T>A (p.Ser27117Thr)
c.81148T>A (p.Ser27050Thr)
c.80773T>A (p.Ser26925Thr)
c.107968T>A (p.Ser35990Thr)
c.103045T>A (p.Ser34349Thr)
n.446+3384A>T
n.219+3384A>T
c.107065T>A (p.Ser35689Thr)
c.80959T>A (p.Ser26987Thr)
c.80818T>A (p.Ser26940Thr)
c.106861T>A (p.Ser35621Thr)
c.102259T>A (p.Ser34087Thr)
c.102256T>A (p.Ser34086Thr)
c.99298T>A (p.Ser33100Thr)
c.80914T>A (p.Ser26972Thr)
c.102409T>A (p.Ser34137Thr)
c.102406T>A (p.Ser34136Thr)
c.101839T>A (p.Ser33947Thr)
c.99181T>A (p.Ser33061Thr)
c.99100T>A (p.Ser33034Thr)
c.80863T>A (p.Ser26955Thr)
c.70717T>A (p.Ser23573Thr)
2g.178527021T>ACA430091454TTN,TTN-AS1c.100263A>T (p.Arg33421=)
c.81348A>T (p.Arg27116=)
c.81147A>T (p.Arg27049=)
c.80772A>T (p.Arg26924=)
c.107967A>T (p.Arg35989=)
c.103044A>T (p.Arg34348=)
n.446+3385T>A
n.219+3385T>A
c.107064A>T (p.Arg35688=)
c.80958A>T (p.Arg26986=)
c.80817A>T (p.Arg26939=)
c.106860A>T (p.Arg35620=)
c.102258A>T (p.Arg34086=)
c.102255A>T (p.Arg34085=)
c.99297A>T (p.Arg33099=)
c.80913A>T (p.Arg26971=)
c.102408A>T (p.Arg34136=)
c.102405A>T (p.Arg34135=)
c.101838A>T (p.Arg33946=)
c.99180A>T (p.Arg33060=)
c.99099A>T (p.Arg33033=)
c.80862A>T (p.Arg26954=)
c.70716A>T (p.Arg23572=)
 dbSNP gnomAD v4
2g.178527021T>CCA430091455TTN,TTN-AS1c.100263A>G (p.Arg33421=)
c.81348A>G (p.Arg27116=)
c.81147A>G (p.Arg27049=)
c.80772A>G (p.Arg26924=)
c.107967A>G (p.Arg35989=)
c.103044A>G (p.Arg34348=)
n.446+3385T>C
n.219+3385T>C
c.107064A>G (p.Arg35688=)
c.80958A>G (p.Arg26986=)
c.80817A>G (p.Arg26939=)
c.106860A>G (p.Arg35620=)
c.102258A>G (p.Arg34086=)
c.102255A>G (p.Arg34085=)
c.99297A>G (p.Arg33099=)
c.80913A>G (p.Arg26971=)
c.102408A>G (p.Arg34136=)
c.102405A>G (p.Arg34135=)
c.101838A>G (p.Arg33946=)
c.99180A>G (p.Arg33060=)
c.99099A>G (p.Arg33033=)
c.80862A>G (p.Arg26954=)
c.70716A>G (p.Arg23572=)
2g.178527021T>GCA430091456TTN,TTN-AS1c.100263A>C (p.Arg33421=)
c.81348A>C (p.Arg27116=)
c.81147A>C (p.Arg27049=)
c.80772A>C (p.Arg26924=)
c.107967A>C (p.Arg35989=)
c.103044A>C (p.Arg34348=)
n.446+3385T>G
n.219+3385T>G
c.107064A>C (p.Arg35688=)
c.80958A>C (p.Arg26986=)
c.80817A>C (p.Arg26939=)
c.106860A>C (p.Arg35620=)
c.102258A>C (p.Arg34086=)
c.102255A>C (p.Arg34085=)
c.99297A>C (p.Arg33099=)
c.80913A>C (p.Arg26971=)
c.102408A>C (p.Arg34136=)
c.102405A>C (p.Arg34135=)
c.101838A>C (p.Arg33946=)
c.99180A>C (p.Arg33060=)
c.99099A>C (p.Arg33033=)
c.80862A>C (p.Arg26954=)
c.70716A>C (p.Arg23572=)
2g.178527021T=CA1310514271TTN,TTN-AS1c.100263A= (p.Arg33421=)
c.81348A= (p.Arg27116=)
c.81147A= (p.Arg27049=)
c.80772A= (p.Arg26924=)
c.107967A= (p.Arg35989=)
c.103044A= (p.Arg34348=)
n.446+3385T=
n.219+3385T=
c.107064A= (p.Arg35688=)
c.80958A= (p.Arg26986=)
c.80817A= (p.Arg26939=)
c.106860A= (p.Arg35620=)
c.102258A= (p.Arg34086=)
c.102255A= (p.Arg34085=)
c.99297A= (p.Arg33099=)
c.80913A= (p.Arg26971=)
c.102408A= (p.Arg34136=)
c.102405A= (p.Arg34135=)
c.101838A= (p.Arg33946=)
c.99180A= (p.Arg33060=)
c.99099A= (p.Arg33033=)
c.80862A= (p.Arg26954=)
c.70716A= (p.Arg23572=)
2g.178527022C>ACA349398155TTN,TTN-AS1c.100262G>T (p.Arg33421Leu)
c.81347G>T (p.Arg27116Leu)
c.81146G>T (p.Arg27049Leu)
c.80771G>T (p.Arg26924Leu)
c.107966G>T (p.Arg35989Leu)
c.103043G>T (p.Arg34348Leu)
n.446+3386C>A
n.219+3386C>A
c.107063G>T (p.Arg35688Leu)
c.80957G>T (p.Arg26986Leu)
c.80816G>T (p.Arg26939Leu)
c.106859G>T (p.Arg35620Leu)
c.102257G>T (p.Arg34086Leu)
c.102254G>T (p.Arg34085Leu)
c.99296G>T (p.Arg33099Leu)
c.80912G>T (p.Arg26971Leu)
c.102407G>T (p.Arg34136Leu)
c.102404G>T (p.Arg34135Leu)
c.101837G>T (p.Arg33946Leu)
c.99179G>T (p.Arg33060Leu)
c.99098G>T (p.Arg33033Leu)
c.80861G>T (p.Arg26954Leu)
c.70715G>T (p.Arg23572Leu)
 gnomAD v4
2g.178527022C=CA1310514272TTN,TTN-AS1c.100262G= (p.Arg33421=)
c.81347G= (p.Arg27116=)
c.81146G= (p.Arg27049=)
c.80771G= (p.Arg26924=)
c.107966G= (p.Arg35989=)
c.103043G= (p.Arg34348=)
n.446+3386C=
n.219+3386C=
c.107063G= (p.Arg35688=)
c.80957G= (p.Arg26986=)
c.80816G= (p.Arg26939=)
c.106859G= (p.Arg35620=)
c.102257G= (p.Arg34086=)
c.102254G= (p.Arg34085=)
c.99296G= (p.Arg33099=)
c.80912G= (p.Arg26971=)
c.102407G= (p.Arg34136=)
c.102404G= (p.Arg34135=)
c.101837G= (p.Arg33946=)
c.99179G= (p.Arg33060=)
c.99098G= (p.Arg33033=)
c.80861G= (p.Arg26954=)
c.70715G= (p.Arg23572=)
2g.178527022C>GCA349398154TTN,TTN-AS1c.100262G>C (p.Arg33421Pro)
c.81347G>C (p.Arg27116Pro)
c.81146G>C (p.Arg27049Pro)
c.80771G>C (p.Arg26924Pro)
c.107966G>C (p.Arg35989Pro)
c.103043G>C (p.Arg34348Pro)
n.446+3386C>G
n.219+3386C>G
c.107063G>C (p.Arg35688Pro)
c.80957G>C (p.Arg26986Pro)
c.80816G>C (p.Arg26939Pro)
c.106859G>C (p.Arg35620Pro)
c.102257G>C (p.Arg34086Pro)
c.102254G>C (p.Arg34085Pro)
c.99296G>C (p.Arg33099Pro)
c.80912G>C (p.Arg26971Pro)
c.102407G>C (p.Arg34136Pro)
c.102404G>C (p.Arg34135Pro)
c.101837G>C (p.Arg33946Pro)
c.99179G>C (p.Arg33060Pro)
c.99098G>C (p.Arg33033Pro)
c.80861G>C (p.Arg26954Pro)
c.70715G>C (p.Arg23572Pro)
 dbSNP gnomAD v3 gnomAD v4
2g.178527022C>TCA1984853TTN,TTN-AS1c.100262G>A (p.Arg33421Gln)
c.81347G>A (p.Arg27116Gln)
c.81146G>A (p.Arg27049Gln)
c.80771G>A (p.Arg26924Gln)
c.107966G>A (p.Arg35989Gln)
c.103043G>A (p.Arg34348Gln)
n.446+3386C>T
n.219+3386C>T
c.107063G>A (p.Arg35688Gln)
c.80957G>A (p.Arg26986Gln)
c.80816G>A (p.Arg26939Gln)
c.106859G>A (p.Arg35620Gln)
c.102257G>A (p.Arg34086Gln)
c.102254G>A (p.Arg34085Gln)
c.99296G>A (p.Arg33099Gln)
c.80912G>A (p.Arg26971Gln)
c.102407G>A (p.Arg34136Gln)
c.102404G>A (p.Arg34135Gln)
c.101837G>A (p.Arg33946Gln)
c.99179G>A (p.Arg33060Gln)
c.99098G>A (p.Arg33033Gln)
c.80861G>A (p.Arg26954Gln)
c.70715G>A (p.Arg23572Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178527023G>ACA309523TTN,TTN-AS1c.100261C>T (p.Arg33421Ter)
c.81346C>T (p.Arg27116Ter)
c.81145C>T (p.Arg27049Ter)
c.80770C>T (p.Arg26924Ter)
c.107965C>T (p.Arg35989Ter)
c.103042C>T (p.Arg34348Ter)
n.446+3387G>A
n.219+3387G>A
c.107062C>T (p.Arg35688Ter)
c.80956C>T (p.Arg26986Ter)
c.80815C>T (p.Arg26939Ter)
c.106858C>T (p.Arg35620Ter)
c.102256C>T (p.Arg34086Ter)
c.102253C>T (p.Arg34085Ter)
c.99295C>T (p.Arg33099Ter)
c.80911C>T (p.Arg26971Ter)
c.102406C>T (p.Arg34136Ter)
c.102403C>T (p.Arg34135Ter)
c.101836C>T (p.Arg33946Ter)
c.99178C>T (p.Arg33060Ter)
c.99097C>T (p.Arg33033Ter)
c.80860C>T (p.Arg26954Ter)
c.70714C>T (p.Arg23572Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
2g.178527023G>CCA349398156TTN,TTN-AS1c.100261C>G (p.Arg33421Gly)
c.81346C>G (p.Arg27116Gly)
c.81145C>G (p.Arg27049Gly)
c.80770C>G (p.Arg26924Gly)
c.107965C>G (p.Arg35989Gly)
c.103042C>G (p.Arg34348Gly)
n.446+3387G>C
n.219+3387G>C
c.107062C>G (p.Arg35688Gly)
c.80956C>G (p.Arg26986Gly)
c.80815C>G (p.Arg26939Gly)
c.106858C>G (p.Arg35620Gly)
c.102256C>G (p.Arg34086Gly)
c.102253C>G (p.Arg34085Gly)
c.99295C>G (p.Arg33099Gly)
c.80911C>G (p.Arg26971Gly)
c.102406C>G (p.Arg34136Gly)
c.102403C>G (p.Arg34135Gly)
c.101836C>G (p.Arg33946Gly)
c.99178C>G (p.Arg33060Gly)
c.99097C>G (p.Arg33033Gly)
c.80860C>G (p.Arg26954Gly)
c.70714C>G (p.Arg23572Gly)
2g.178527023G=CA1310514273TTN,TTN-AS1c.100261C= (p.Arg33421=)
c.81346C= (p.Arg27116=)
c.81145C= (p.Arg27049=)
c.80770C= (p.Arg26924=)
c.107965C= (p.Arg35989=)
c.103042C= (p.Arg34348=)
n.446+3387G=
n.219+3387G=
c.107062C= (p.Arg35688=)
c.80956C= (p.Arg26986=)
c.80815C= (p.Arg26939=)
c.106858C= (p.Arg35620=)
c.102256C= (p.Arg34086=)
c.102253C= (p.Arg34085=)
c.99295C= (p.Arg33099=)
c.80911C= (p.Arg26971=)
c.102406C= (p.Arg34136=)
c.102403C= (p.Arg34135=)
c.101836C= (p.Arg33946=)
c.99178C= (p.Arg33060=)
c.99097C= (p.Arg33033=)
c.80860C= (p.Arg26954=)
c.70714C= (p.Arg23572=)
2g.178527023G>TCA430091457TTN,TTN-AS1c.100261C>A (p.Arg33421=)
c.81346C>A (p.Arg27116=)
c.81145C>A (p.Arg27049=)
c.80770C>A (p.Arg26924=)
c.107965C>A (p.Arg35989=)
c.103042C>A (p.Arg34348=)
n.446+3387G>T
n.219+3387G>T
c.107062C>A (p.Arg35688=)
c.80956C>A (p.Arg26986=)
c.80815C>A (p.Arg26939=)
c.106858C>A (p.Arg35620=)
c.102256C>A (p.Arg34086=)
c.102253C>A (p.Arg34085=)
c.99295C>A (p.Arg33099=)
c.80911C>A (p.Arg26971=)
c.102406C>A (p.Arg34136=)
c.102403C>A (p.Arg34135=)
c.101836C>A (p.Arg33946=)
c.99178C>A (p.Arg33060=)
c.99097C>A (p.Arg33033=)
c.80860C>A (p.Arg26954=)
c.70714C>A (p.Arg23572=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
2g.178527024A>CCA349398157TTN,TTN-AS1c.100260T>G (p.Ile33420Met)
c.81345T>G (p.Ile27115Met)
c.81144T>G (p.Ile27048Met)
c.80769T>G (p.Ile26923Met)
c.107964T>G (p.Ile35988Met)
c.103041T>G (p.Ile34347Met)
n.446+3388A>C
n.219+3388A>C
c.107061T>G (p.Ile35687Met)
c.80955T>G (p.Ile26985Met)
c.80814T>G (p.Ile26938Met)
c.106857T>G (p.Ile35619Met)
c.102255T>G (p.Ile34085Met)
c.102252T>G (p.Ile34084Met)
c.99294T>G (p.Ile33098Met)
c.80910T>G (p.Ile26970Met)
c.102405T>G (p.Ile34135Met)
c.102402T>G (p.Ile34134Met)
c.101835T>G (p.Ile33945Met)
c.99177T>G (p.Ile33059Met)
c.99096T>G (p.Ile33032Met)
c.80859T>G (p.Ile26953Met)
c.70713T>G (p.Ile23571Met)
2g.178527024A>GCA430091458TTN,TTN-AS1c.100260T>C (p.Ile33420=)
c.81345T>C (p.Ile27115=)
c.81144T>C (p.Ile27048=)
c.80769T>C (p.Ile26923=)
c.107964T>C (p.Ile35988=)
c.103041T>C (p.Ile34347=)
n.446+3388A>G
n.219+3388A>G
c.107061T>C (p.Ile35687=)
c.80955T>C (p.Ile26985=)
c.80814T>C (p.Ile26938=)
c.106857T>C (p.Ile35619=)
c.102255T>C (p.Ile34085=)
c.102252T>C (p.Ile34084=)
c.99294T>C (p.Ile33098=)
c.80910T>C (p.Ile26970=)
c.102405T>C (p.Ile34135=)
c.102402T>C (p.Ile34134=)
c.101835T>C (p.Ile33945=)
c.99177T>C (p.Ile33059=)
c.99096T>C (p.Ile33032=)
c.80859T>C (p.Ile26953=)
c.70713T>C (p.Ile23571=)
2g.178527024A>TCA430091459TTN,TTN-AS1c.100260T>A (p.Ile33420=)
c.81345T>A (p.Ile27115=)
c.81144T>A (p.Ile27048=)
c.80769T>A (p.Ile26923=)
c.107964T>A (p.Ile35988=)
c.103041T>A (p.Ile34347=)
n.446+3388A>T
n.219+3388A>T
c.107061T>A (p.Ile35687=)
c.80955T>A (p.Ile26985=)
c.80814T>A (p.Ile26938=)
c.106857T>A (p.Ile35619=)
c.102255T>A (p.Ile34085=)
c.102252T>A (p.Ile34084=)
c.99294T>A (p.Ile33098=)
c.80910T>A (p.Ile26970=)
c.102405T>A (p.Ile34135=)
c.102402T>A (p.Ile34134=)
c.101835T>A (p.Ile33945=)
c.99177T>A (p.Ile33059=)
c.99096T>A (p.Ile33032=)
c.80859T>A (p.Ile26953=)
c.70713T>A (p.Ile23571=)
2g.178527025A>CCA349398158TTN,TTN-AS1c.100259T>G (p.Ile33420Ser)
c.81344T>G (p.Ile27115Ser)
c.81143T>G (p.Ile27048Ser)
c.80768T>G (p.Ile26923Ser)
c.107963T>G (p.Ile35988Ser)
c.103040T>G (p.Ile34347Ser)
n.446+3389A>C
n.219+3389A>C
c.107060T>G (p.Ile35687Ser)
c.80954T>G (p.Ile26985Ser)
c.80813T>G (p.Ile26938Ser)
c.106856T>G (p.Ile35619Ser)
c.102254T>G (p.Ile34085Ser)
c.102251T>G (p.Ile34084Ser)
c.99293T>G (p.Ile33098Ser)
c.80909T>G (p.Ile26970Ser)
c.102404T>G (p.Ile34135Ser)
c.102401T>G (p.Ile34134Ser)
c.101834T>G (p.Ile33945Ser)
c.99176T>G (p.Ile33059Ser)
c.99095T>G (p.Ile33032Ser)
c.80858T>G (p.Ile26953Ser)
c.70712T>G (p.Ile23571Ser)
2g.178527025A>GCA349398159TTN,TTN-AS1c.100259T>C (p.Ile33420Thr)
c.81344T>C (p.Ile27115Thr)
c.81143T>C (p.Ile27048Thr)
c.80768T>C (p.Ile26923Thr)
c.107963T>C (p.Ile35988Thr)
c.103040T>C (p.Ile34347Thr)
n.446+3389A>G
n.219+3389A>G
c.107060T>C (p.Ile35687Thr)
c.80954T>C (p.Ile26985Thr)
c.80813T>C (p.Ile26938Thr)
c.106856T>C (p.Ile35619Thr)
c.102254T>C (p.Ile34085Thr)
c.102251T>C (p.Ile34084Thr)
c.99293T>C (p.Ile33098Thr)
c.80909T>C (p.Ile26970Thr)
c.102404T>C (p.Ile34135Thr)
c.102401T>C (p.Ile34134Thr)
c.101834T>C (p.Ile33945Thr)
c.99176T>C (p.Ile33059Thr)
c.99095T>C (p.Ile33032Thr)
c.80858T>C (p.Ile26953Thr)
c.70712T>C (p.Ile23571Thr)
2g.178527025A>TCA349398160TTN,TTN-AS1c.100259T>A (p.Ile33420Asn)
c.81344T>A (p.Ile27115Asn)
c.81143T>A (p.Ile27048Asn)
c.80768T>A (p.Ile26923Asn)
c.107963T>A (p.Ile35988Asn)
c.103040T>A (p.Ile34347Asn)
n.446+3389A>T
n.219+3389A>T
c.107060T>A (p.Ile35687Asn)
c.80954T>A (p.Ile26985Asn)
c.80813T>A (p.Ile26938Asn)
c.106856T>A (p.Ile35619Asn)
c.102254T>A (p.Ile34085Asn)
c.102251T>A (p.Ile34084Asn)
c.99293T>A (p.Ile33098Asn)
c.80909T>A (p.Ile26970Asn)
c.102404T>A (p.Ile34135Asn)
c.102401T>A (p.Ile34134Asn)
c.101834T>A (p.Ile33945Asn)
c.99176T>A (p.Ile33059Asn)
c.99095T>A (p.Ile33032Asn)
c.80858T>A (p.Ile26953Asn)
c.70712T>A (p.Ile23571Asn)
2g.178527027_178527028delCA2586970710TTN,TTN-AS1c.100258_100259del (p.Ile33420SerfsTer26)
c.81343_81344del (p.Ile27115SerfsTer?)
c.81142_81143del (p.Ile27048SerfsTer?)
c.81343_81344del (p.Ile27115SerfsTer26)
c.81142_81143del (p.Ile27048SerfsTer26)
c.80767_80768del (p.Ile26923SerfsTer26)
c.107962_107963del (p.Ile35988SerfsTer26)
c.103039_103040del (p.Ile34347SerfsTer26)
n.446+3391_446+3392del
n.219+3391_219+3392del
c.107059_107060del (p.Ile35687SerfsTer26)
c.80953_80954del (p.Ile26985SerfsTer26)
c.80812_80813del (p.Ile26938SerfsTer26)
c.106855_106856del (p.Ile35619SerfsTer26)
c.102253_102254del (p.Ile34085SerfsTer26)
c.102250_102251del (p.Ile34084SerfsTer26)
c.99292_99293del (p.Ile33098SerfsTer26)
c.80908_80909del (p.Ile26970SerfsTer26)
c.102403_102404del (p.Ile34135SerfsTer26)
c.102400_102401del (p.Ile34134SerfsTer26)
c.101833_101834del (p.Ile33945SerfsTer26)
c.99175_99176del (p.Ile33059SerfsTer26)
c.99094_99095del (p.Ile33032SerfsTer26)
c.80857_80858del (p.Ile26953SerfsTer26)
c.70711_70712del (p.Ile23571SerfsTer26)
2g.178527026T>ACA349398163TTN,TTN-AS1c.100258A>T (p.Ile33420Phe)
c.81343A>T (p.Ile27115Phe)
c.81142A>T (p.Ile27048Phe)
c.80767A>T (p.Ile26923Phe)
c.107962A>T (p.Ile35988Phe)
c.103039A>T (p.Ile34347Phe)
n.446+3390T>A
n.219+3390T>A
c.107059A>T (p.Ile35687Phe)
c.80953A>T (p.Ile26985Phe)
c.80812A>T (p.Ile26938Phe)
c.106855A>T (p.Ile35619Phe)
c.102253A>T (p.Ile34085Phe)
c.102250A>T (p.Ile34084Phe)
c.99292A>T (p.Ile33098Phe)
c.80908A>T (p.Ile26970Phe)
c.102403A>T (p.Ile34135Phe)
c.102400A>T (p.Ile34134Phe)
c.101833A>T (p.Ile33945Phe)
c.99175A>T (p.Ile33059Phe)
c.99094A>T (p.Ile33032Phe)
c.80857A>T (p.Ile26953Phe)
c.70711A>T (p.Ile23571Phe)
2g.178527026T>CCA349398161TTN,TTN-AS1c.100258A>G (p.Ile33420Val)
c.81343A>G (p.Ile27115Val)
c.81142A>G (p.Ile27048Val)
c.80767A>G (p.Ile26923Val)
c.107962A>G (p.Ile35988Val)
c.103039A>G (p.Ile34347Val)
n.446+3390T>C
n.219+3390T>C
c.107059A>G (p.Ile35687Val)
c.80953A>G (p.Ile26985Val)
c.80812A>G (p.Ile26938Val)
c.106855A>G (p.Ile35619Val)
c.102253A>G (p.Ile34085Val)
c.102250A>G (p.Ile34084Val)
c.99292A>G (p.Ile33098Val)
c.80908A>G (p.Ile26970Val)
c.102403A>G (p.Ile34135Val)
c.102400A>G (p.Ile34134Val)
c.101833A>G (p.Ile33945Val)
c.99175A>G (p.Ile33059Val)
c.99094A>G (p.Ile33032Val)
c.80857A>G (p.Ile26953Val)
c.70711A>G (p.Ile23571Val)
 gnomAD v4
2g.178527026T>GCA349398162TTN,TTN-AS1c.100258A>C (p.Ile33420Leu)
c.81343A>C (p.Ile27115Leu)
c.81142A>C (p.Ile27048Leu)
c.80767A>C (p.Ile26923Leu)
c.107962A>C (p.Ile35988Leu)
c.103039A>C (p.Ile34347Leu)
n.446+3390T>G
n.219+3390T>G
c.107059A>C (p.Ile35687Leu)
c.80953A>C (p.Ile26985Leu)
c.80812A>C (p.Ile26938Leu)
c.106855A>C (p.Ile35619Leu)
c.102253A>C (p.Ile34085Leu)
c.102250A>C (p.Ile34084Leu)
c.99292A>C (p.Ile33098Leu)
c.80908A>C (p.Ile26970Leu)
c.102403A>C (p.Ile34135Leu)
c.102400A>C (p.Ile34134Leu)
c.101833A>C (p.Ile33945Leu)
c.99175A>C (p.Ile33059Leu)
c.99094A>C (p.Ile33032Leu)
c.80857A>C (p.Ile26953Leu)
c.70711A>C (p.Ile23571Leu)
2g.178527027A=CA1310514274TTN,TTN-AS1c.100257T= (p.His33419=)
c.81342T= (p.His27114=)
c.81141T= (p.His27047=)
c.80766T= (p.His26922=)
c.107961T= (p.His35987=)
c.103038T= (p.His34346=)
n.446+3391A=
n.219+3391A=
c.107058T= (p.His35686=)
c.80952T= (p.His26984=)
c.80811T= (p.His26937=)
c.106854T= (p.His35618=)
c.102252T= (p.His34084=)
c.102249T= (p.His34083=)
c.99291T= (p.His33097=)
c.80907T= (p.His26969=)
c.102402T= (p.His34134=)
c.102399T= (p.His34133=)
c.101832T= (p.His33944=)
c.99174T= (p.His33058=)
c.99093T= (p.His33031=)
c.80856T= (p.His26952=)
c.70710T= (p.His23570=)
2g.178527027A>CCA349398164TTN,TTN-AS1c.100257T>G (p.His33419Gln)
c.81342T>G (p.His27114Gln)
c.81141T>G (p.His27047Gln)
c.80766T>G (p.His26922Gln)
c.107961T>G (p.His35987Gln)
c.103038T>G (p.His34346Gln)
n.446+3391A>C
n.219+3391A>C
c.107058T>G (p.His35686Gln)
c.80952T>G (p.His26984Gln)
c.80811T>G (p.His26937Gln)
c.106854T>G (p.His35618Gln)
c.102252T>G (p.His34084Gln)
c.102249T>G (p.His34083Gln)
c.99291T>G (p.His33097Gln)
c.80907T>G (p.His26969Gln)
c.102402T>G (p.His34134Gln)
c.102399T>G (p.His34133Gln)
c.101832T>G (p.His33944Gln)
c.99174T>G (p.His33058Gln)
c.99093T>G (p.His33031Gln)
c.80856T>G (p.His26952Gln)
c.70710T>G (p.His23570Gln)
2g.178527027A>GCA295714TTN,TTN-AS1c.100257T>C (p.His33419=)
c.81342T>C (p.His27114=)
c.81141T>C (p.His27047=)
c.80766T>C (p.His26922=)
c.107961T>C (p.His35987=)
c.103038T>C (p.His34346=)
n.446+3391A>G
n.219+3391A>G
c.107058T>C (p.His35686=)
c.80952T>C (p.His26984=)
c.80811T>C (p.His26937=)
c.106854T>C (p.His35618=)
c.102252T>C (p.His34084=)
c.102249T>C (p.His34083=)
c.99291T>C (p.His33097=)
c.80907T>C (p.His26969=)
c.102402T>C (p.His34134=)
c.102399T>C (p.His34133=)
c.101832T>C (p.His33944=)
c.99174T>C (p.His33058=)
c.99093T>C (p.His33031=)
c.80856T>C (p.His26952=)
c.70710T>C (p.His23570=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178527027A>TCA349398165TTN,TTN-AS1c.100257T>A (p.His33419Gln)
c.81342T>A (p.His27114Gln)
c.81141T>A (p.His27047Gln)
c.80766T>A (p.His26922Gln)
c.107961T>A (p.His35987Gln)
c.103038T>A (p.His34346Gln)
n.446+3391A>T
n.219+3391A>T
c.107058T>A (p.His35686Gln)
c.80952T>A (p.His26984Gln)
c.80811T>A (p.His26937Gln)
c.106854T>A (p.His35618Gln)
c.102252T>A (p.His34084Gln)
c.102249T>A (p.His34083Gln)
c.99291T>A (p.His33097Gln)
c.80907T>A (p.His26969Gln)
c.102402T>A (p.His34134Gln)
c.102399T>A (p.His34133Gln)
c.101832T>A (p.His33944Gln)
c.99174T>A (p.His33058Gln)
c.99093T>A (p.His33031Gln)
c.80856T>A (p.His26952Gln)
c.70710T>A (p.His23570Gln)
2g.178527028T>ACA349398166TTN,TTN-AS1c.100256A>T (p.His33419Leu)
c.81341A>T (p.His27114Leu)
c.81140A>T (p.His27047Leu)
c.80765A>T (p.His26922Leu)
c.107960A>T (p.His35987Leu)
c.103037A>T (p.His34346Leu)
n.446+3392T>A
n.219+3392T>A
c.107057A>T (p.His35686Leu)
c.80951A>T (p.His26984Leu)
c.80810A>T (p.His26937Leu)
c.106853A>T (p.His35618Leu)
c.102251A>T (p.His34084Leu)
c.102248A>T (p.His34083Leu)
c.99290A>T (p.His33097Leu)
c.80906A>T (p.His26969Leu)
c.102401A>T (p.His34134Leu)
c.102398A>T (p.His34133Leu)
c.101831A>T (p.His33944Leu)
c.99173A>T (p.His33058Leu)
c.99092A>T (p.His33031Leu)
c.80855A>T (p.His26952Leu)
c.70709A>T (p.His23570Leu)
2g.178527028T>CCA1984854TTN,TTN-AS1c.100256A>G (p.His33419Arg)
c.81341A>G (p.His27114Arg)
c.81140A>G (p.His27047Arg)
c.80765A>G (p.His26922Arg)
c.107960A>G (p.His35987Arg)
c.103037A>G (p.His34346Arg)
n.446+3392T>C
n.219+3392T>C
c.107057A>G (p.His35686Arg)
c.80951A>G (p.His26984Arg)
c.80810A>G (p.His26937Arg)
c.106853A>G (p.His35618Arg)
c.102251A>G (p.His34084Arg)
c.102248A>G (p.His34083Arg)
c.99290A>G (p.His33097Arg)
c.80906A>G (p.His26969Arg)
c.102401A>G (p.His34134Arg)
c.102398A>G (p.His34133Arg)
c.101831A>G (p.His33944Arg)
c.99173A>G (p.His33058Arg)
c.99092A>G (p.His33031Arg)
c.80855A>G (p.His26952Arg)
c.70709A>G (p.His23570Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.178527028T>GCA349398167TTN,TTN-AS1c.100256A>C (p.His33419Pro)
c.81341A>C (p.His27114Pro)
c.81140A>C (p.His27047Pro)
c.80765A>C (p.His26922Pro)
c.107960A>C (p.His35987Pro)
c.103037A>C (p.His34346Pro)
n.446+3392T>G
n.219+3392T>G
c.107057A>C (p.His35686Pro)
c.80951A>C (p.His26984Pro)
c.80810A>C (p.His26937Pro)
c.106853A>C (p.His35618Pro)
c.102251A>C (p.His34084Pro)
c.102248A>C (p.His34083Pro)
c.99290A>C (p.His33097Pro)
c.80906A>C (p.His26969Pro)
c.102401A>C (p.His34134Pro)
c.102398A>C (p.His34133Pro)
c.101831A>C (p.His33944Pro)
c.99173A>C (p.His33058Pro)
c.99092A>C (p.His33031Pro)
c.80855A>C (p.His26952Pro)
c.70709A>C (p.His23570Pro)
2g.178527028T=CA1310514275TTN,TTN-AS1c.100256A= (p.His33419=)
c.81341A= (p.His27114=)
c.81140A= (p.His27047=)
c.80765A= (p.His26922=)
c.107960A= (p.His35987=)
c.103037A= (p.His34346=)
n.446+3392T=
n.219+3392T=
c.107057A= (p.His35686=)
c.80951A= (p.His26984=)
c.80810A= (p.His26937=)
c.106853A= (p.His35618=)
c.102251A= (p.His34084=)
c.102248A= (p.His34083=)
c.99290A= (p.His33097=)
c.80906A= (p.His26969=)
c.102401A= (p.His34134=)
c.102398A= (p.His34133=)
c.101831A= (p.His33944=)
c.99173A= (p.His33058=)
c.99092A= (p.His33031=)
c.80855A= (p.His26952=)
c.70709A= (p.His23570=)
2g.178527029G>ACA349398168TTN,TTN-AS1c.100255C>T (p.His33419Tyr)
c.81340C>T (p.His27114Tyr)
c.81139C>T (p.His27047Tyr)
c.80764C>T (p.His26922Tyr)
c.107959C>T (p.His35987Tyr)
c.103036C>T (p.His34346Tyr)
n.446+3393G>A
n.219+3393G>A
c.107056C>T (p.His35686Tyr)
c.80950C>T (p.His26984Tyr)
c.80809C>T (p.His26937Tyr)
c.106852C>T (p.His35618Tyr)
c.102250C>T (p.His34084Tyr)
c.102247C>T (p.His34083Tyr)
c.99289C>T (p.His33097Tyr)
c.80905C>T (p.His26969Tyr)
c.102400C>T (p.His34134Tyr)
c.102397C>T (p.His34133Tyr)
c.101830C>T (p.His33944Tyr)
c.99172C>T (p.His33058Tyr)
c.99091C>T (p.His33031Tyr)
c.80854C>T (p.His26952Tyr)
c.70708C>T (p.His23570Tyr)
2g.178527029G>CCA349398169TTN,TTN-AS1c.100255C>G (p.His33419Asp)
c.81340C>G (p.His27114Asp)
c.81139C>G (p.His27047Asp)
c.80764C>G (p.His26922Asp)
c.107959C>G (p.His35987Asp)
c.103036C>G (p.His34346Asp)
n.446+3393G>C
n.219+3393G>C
c.107056C>G (p.His35686Asp)
c.80950C>G (p.His26984Asp)
c.80809C>G (p.His26937Asp)
c.106852C>G (p.His35618Asp)
c.102250C>G (p.His34084Asp)
c.102247C>G (p.His34083Asp)
c.99289C>G (p.His33097Asp)
c.80905C>G (p.His26969Asp)
c.102400C>G (p.His34134Asp)
c.102397C>G (p.His34133Asp)
c.101830C>G (p.His33944Asp)
c.99172C>G (p.His33058Asp)
c.99091C>G (p.His33031Asp)
c.80854C>G (p.His26952Asp)
c.70708C>G (p.His23570Asp)
2g.178527029G>TCA349398170TTN,TTN-AS1c.100255C>A (p.His33419Asn)
c.81340C>A (p.His27114Asn)
c.81139C>A (p.His27047Asn)
c.80764C>A (p.His26922Asn)
c.107959C>A (p.His35987Asn)
c.103036C>A (p.His34346Asn)
n.446+3393G>T
n.219+3393G>T
c.107056C>A (p.His35686Asn)
c.80950C>A (p.His26984Asn)
c.80809C>A (p.His26937Asn)
c.106852C>A (p.His35618Asn)
c.102250C>A (p.His34084Asn)
c.102247C>A (p.His34083Asn)
c.99289C>A (p.His33097Asn)
c.80905C>A (p.His26969Asn)
c.102400C>A (p.His34134Asn)
c.102397C>A (p.His34133Asn)
c.101830C>A (p.His33944Asn)
c.99172C>A (p.His33058Asn)
c.99091C>A (p.His33031Asn)
c.80854C>A (p.His26952Asn)
c.70708C>A (p.His23570Asn)
 dbSNP gnomAD v4
2g.178527030T>ACA430091460TTN,TTN-AS1c.100254A>T (p.Ile33418=)
c.81339A>T (p.Ile27113=)
c.81138A>T (p.Ile27046=)
c.80763A>T (p.Ile26921=)
c.107958A>T (p.Ile35986=)
c.103035A>T (p.Ile34345=)
n.446+3394T>A
n.219+3394T>A
c.107055A>T (p.Ile35685=)
c.80949A>T (p.Ile26983=)
c.80808A>T (p.Ile26936=)
c.106851A>T (p.Ile35617=)
c.102249A>T (p.Ile34083=)
c.102246A>T (p.Ile34082=)
c.99288A>T (p.Ile33096=)
c.80904A>T (p.Ile26968=)
c.102399A>T (p.Ile34133=)
c.102396A>T (p.Ile34132=)
c.101829A>T (p.Ile33943=)
c.99171A>T (p.Ile33057=)
c.99090A>T (p.Ile33030=)
c.80853A>T (p.Ile26951=)
c.70707A>T (p.Ile23569=)
2g.178527030T>CCA349398171TTN,TTN-AS1c.100254A>G (p.Ile33418Met)
c.81339A>G (p.Ile27113Met)
c.81138A>G (p.Ile27046Met)
c.80763A>G (p.Ile26921Met)
c.107958A>G (p.Ile35986Met)
c.103035A>G (p.Ile34345Met)
n.446+3394T>C
n.219+3394T>C
c.107055A>G (p.Ile35685Met)
c.80949A>G (p.Ile26983Met)
c.80808A>G (p.Ile26936Met)
c.106851A>G (p.Ile35617Met)
c.102249A>G (p.Ile34083Met)
c.102246A>G (p.Ile34082Met)
c.99288A>G (p.Ile33096Met)
c.80904A>G (p.Ile26968Met)
c.102399A>G (p.Ile34133Met)
c.102396A>G (p.Ile34132Met)
c.101829A>G (p.Ile33943Met)
c.99171A>G (p.Ile33057Met)
c.99090A>G (p.Ile33030Met)
c.80853A>G (p.Ile26951Met)
c.70707A>G (p.Ile23569Met)
 gnomAD v4
2g.178527030T>GCA430091461TTN,TTN-AS1c.100254A>C (p.Ile33418=)
c.81339A>C (p.Ile27113=)
c.81138A>C (p.Ile27046=)
c.80763A>C (p.Ile26921=)
c.107958A>C (p.Ile35986=)
c.103035A>C (p.Ile34345=)
n.446+3394T>G
n.219+3394T>G
c.107055A>C (p.Ile35685=)
c.80949A>C (p.Ile26983=)
c.80808A>C (p.Ile26936=)
c.106851A>C (p.Ile35617=)
c.102249A>C (p.Ile34083=)
c.102246A>C (p.Ile34082=)
c.99288A>C (p.Ile33096=)
c.80904A>C (p.Ile26968=)
c.102399A>C (p.Ile34133=)
c.102396A>C (p.Ile34132=)
c.101829A>C (p.Ile33943=)
c.99171A>C (p.Ile33057=)
c.99090A>C (p.Ile33030=)
c.80853A>C (p.Ile26951=)
c.70707A>C (p.Ile23569=)
2g.178527031A=CA1310514276TTN,TTN-AS1c.100253T= (p.Ile33418=)
c.81338T= (p.Ile27113=)
c.81137T= (p.Ile27046=)
c.80762T= (p.Ile26921=)
c.107957T= (p.Ile35986=)
c.103034T= (p.Ile34345=)
n.446+3395A=
n.219+3395A=
c.107054T= (p.Ile35685=)
c.80948T= (p.Ile26983=)
c.80807T= (p.Ile26936=)
c.106850T= (p.Ile35617=)
c.102248T= (p.Ile34083=)
c.102245T= (p.Ile34082=)
c.99287T= (p.Ile33096=)
c.80903T= (p.Ile26968=)
c.102398T= (p.Ile34133=)
c.102395T= (p.Ile34132=)
c.101828T= (p.Ile33943=)
c.99170T= (p.Ile33057=)
c.99089T= (p.Ile33030=)
c.80852T= (p.Ile26951=)
c.70706T= (p.Ile23569=)
2g.178527031A>CCA349398172TTN,TTN-AS1c.100253T>G (p.Ile33418Arg)
c.81338T>G (p.Ile27113Arg)
c.81137T>G (p.Ile27046Arg)
c.80762T>G (p.Ile26921Arg)
c.107957T>G (p.Ile35986Arg)
c.103034T>G (p.Ile34345Arg)
n.446+3395A>C
n.219+3395A>C
c.107054T>G (p.Ile35685Arg)
c.80948T>G (p.Ile26983Arg)
c.80807T>G (p.Ile26936Arg)
c.106850T>G (p.Ile35617Arg)
c.102248T>G (p.Ile34083Arg)
c.102245T>G (p.Ile34082Arg)
c.99287T>G (p.Ile33096Arg)
c.80903T>G (p.Ile26968Arg)
c.102398T>G (p.Ile34133Arg)
c.102395T>G (p.Ile34132Arg)
c.101828T>G (p.Ile33943Arg)
c.99170T>G (p.Ile33057Arg)
c.99089T>G (p.Ile33030Arg)
c.80852T>G (p.Ile26951Arg)
c.70706T>G (p.Ile23569Arg)
2g.178527031A>GCA16610284TTN,TTN-AS1c.100253T>C (p.Ile33418Thr)
c.81338T>C (p.Ile27113Thr)
c.81137T>C (p.Ile27046Thr)
c.80762T>C (p.Ile26921Thr)
c.107957T>C (p.Ile35986Thr)
c.103034T>C (p.Ile34345Thr)
n.446+3395A>G
n.219+3395A>G
c.107054T>C (p.Ile35685Thr)
c.80948T>C (p.Ile26983Thr)
c.80807T>C (p.Ile26936Thr)
c.106850T>C (p.Ile35617Thr)
c.102248T>C (p.Ile34083Thr)
c.102245T>C (p.Ile34082Thr)
c.99287T>C (p.Ile33096Thr)
c.80903T>C (p.Ile26968Thr)
c.102398T>C (p.Ile34133Thr)
c.102395T>C (p.Ile34132Thr)
c.101828T>C (p.Ile33943Thr)
c.99170T>C (p.Ile33057Thr)
c.99089T>C (p.Ile33030Thr)
c.80852T>C (p.Ile26951Thr)
c.70706T>C (p.Ile23569Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.178527031A>TCA349398173TTN,TTN-AS1c.100253T>A (p.Ile33418Lys)
c.81338T>A (p.Ile27113Lys)
c.81137T>A (p.Ile27046Lys)
c.80762T>A (p.Ile26921Lys)
c.107957T>A (p.Ile35986Lys)
c.103034T>A (p.Ile34345Lys)
n.446+3395A>T
n.219+3395A>T
c.107054T>A (p.Ile35685Lys)
c.80948T>A (p.Ile26983Lys)
c.80807T>A (p.Ile26936Lys)
c.106850T>A (p.Ile35617Lys)
c.102248T>A (p.Ile34083Lys)
c.102245T>A (p.Ile34082Lys)
c.99287T>A (p.Ile33096Lys)
c.80903T>A (p.Ile26968Lys)
c.102398T>A (p.Ile34133Lys)
c.102395T>A (p.Ile34132Lys)
c.101828T>A (p.Ile33943Lys)
c.99170T>A (p.Ile33057Lys)
c.99089T>A (p.Ile33030Lys)
c.80852T>A (p.Ile26951Lys)
c.70706T>A (p.Ile23569Lys)
2g.178527032T>ACA349398175TTN,TTN-AS1c.100252A>T (p.Ile33418Leu)
c.81337A>T (p.Ile27113Leu)
c.81136A>T (p.Ile27046Leu)
c.80761A>T (p.Ile26921Leu)
c.107956A>T (p.Ile35986Leu)
c.103033A>T (p.Ile34345Leu)
n.446+3396T>A
n.219+3396T>A
c.107053A>T (p.Ile35685Leu)
c.80947A>T (p.Ile26983Leu)
c.80806A>T (p.Ile26936Leu)
c.106849A>T (p.Ile35617Leu)
c.102247A>T (p.Ile34083Leu)
c.102244A>T (p.Ile34082Leu)
c.99286A>T (p.Ile33096Leu)
c.80902A>T (p.Ile26968Leu)
c.102397A>T (p.Ile34133Leu)
c.102394A>T (p.Ile34132Leu)
c.101827A>T (p.Ile33943Leu)
c.99169A>T (p.Ile33057Leu)
c.99088A>T (p.Ile33030Leu)
c.80851A>T (p.Ile26951Leu)
c.70705A>T (p.Ile23569Leu)
2g.178527032T>CCA16621775TTN,TTN-AS1c.100252A>G (p.Ile33418Val)
c.81337A>G (p.Ile27113Val)
c.81136A>G (p.Ile27046Val)
c.80761A>G (p.Ile26921Val)
c.107956A>G (p.Ile35986Val)
c.103033A>G (p.Ile34345Val)
n.446+3396T>C
n.219+3396T>C
c.107053A>G (p.Ile35685Val)
c.80947A>G (p.Ile26983Val)
c.80806A>G (p.Ile26936Val)
c.106849A>G (p.Ile35617Val)
c.102247A>G (p.Ile34083Val)
c.102244A>G (p.Ile34082Val)
c.99286A>G (p.Ile33096Val)
c.80902A>G (p.Ile26968Val)
c.102397A>G (p.Ile34133Val)
c.102394A>G (p.Ile34132Val)
c.101827A>G (p.Ile33943Val)
c.99169A>G (p.Ile33057Val)
c.99088A>G (p.Ile33030Val)
c.80851A>G (p.Ile26951Val)
c.70705A>G (p.Ile23569Val)
 ClinVar dbSNP
2g.178527032T>GCA349398174TTN,TTN-AS1c.100252A>C (p.Ile33418Leu)
c.81337A>C (p.Ile27113Leu)
c.81136A>C (p.Ile27046Leu)
c.80761A>C (p.Ile26921Leu)
c.107956A>C (p.Ile35986Leu)
c.103033A>C (p.Ile34345Leu)
n.446+3396T>G
n.219+3396T>G
c.107053A>C (p.Ile35685Leu)
c.80947A>C (p.Ile26983Leu)
c.80806A>C (p.Ile26936Leu)
c.106849A>C (p.Ile35617Leu)
c.102247A>C (p.Ile34083Leu)
c.102244A>C (p.Ile34082Leu)
c.99286A>C (p.Ile33096Leu)
c.80902A>C (p.Ile26968Leu)
c.102397A>C (p.Ile34133Leu)
c.102394A>C (p.Ile34132Leu)
c.101827A>C (p.Ile33943Leu)
c.99169A>C (p.Ile33057Leu)
c.99088A>C (p.Ile33030Leu)
c.80851A>C (p.Ile26951Leu)
c.70705A>C (p.Ile23569Leu)
2g.178527032T=CA1310514277TTN,TTN-AS1c.100252A= (p.Ile33418=)
c.81337A= (p.Ile27113=)
c.81136A= (p.Ile27046=)
c.80761A= (p.Ile26921=)
c.107956A= (p.Ile35986=)
c.103033A= (p.Ile34345=)
n.446+3396T=
n.219+3396T=
c.107053A= (p.Ile35685=)
c.80947A= (p.Ile26983=)
c.80806A= (p.Ile26936=)
c.106849A= (p.Ile35617=)
c.102247A= (p.Ile34083=)
c.102244A= (p.Ile34082=)
c.99286A= (p.Ile33096=)
c.80902A= (p.Ile26968=)
c.102397A= (p.Ile34133=)
c.102394A= (p.Ile34132=)
c.101827A= (p.Ile33943=)
c.99169A= (p.Ile33057=)
c.99088A= (p.Ile33030=)
c.80851A= (p.Ile26951=)
c.70705A= (p.Ile23569=)
2g.178527033A>CCA349398176TTN,TTN-AS1c.100251T>G (p.Asn33417Lys)
c.81336T>G (p.Asn27112Lys)
c.81135T>G (p.Asn27045Lys)
c.80760T>G (p.Asn26920Lys)
c.107955T>G (p.Asn35985Lys)
c.103032T>G (p.Asn34344Lys)
n.446+3397A>C
n.219+3397A>C
c.107052T>G (p.Asn35684Lys)
c.80946T>G (p.Asn26982Lys)
c.80805T>G (p.Asn26935Lys)
c.106848T>G (p.Asn35616Lys)
c.102246T>G (p.Asn34082Lys)
c.102243T>G (p.Asn34081Lys)
c.99285T>G (p.Asn33095Lys)
c.80901T>G (p.Asn26967Lys)
c.102396T>G (p.Asn34132Lys)
c.102393T>G (p.Asn34131Lys)
c.101826T>G (p.Asn33942Lys)
c.99168T>G (p.Asn33056Lys)
c.99087T>G (p.Asn33029Lys)
c.80850T>G (p.Asn26950Lys)
c.70704T>G (p.Asn23568Lys)
2g.178527033A>GCA430091462TTN,TTN-AS1c.100251T>C (p.Asn33417=)
c.81336T>C (p.Asn27112=)
c.81135T>C (p.Asn27045=)
c.80760T>C (p.Asn26920=)
c.107955T>C (p.Asn35985=)
c.103032T>C (p.Asn34344=)
n.446+3397A>G
n.219+3397A>G
c.107052T>C (p.Asn35684=)
c.80946T>C (p.Asn26982=)
c.80805T>C (p.Asn26935=)
c.106848T>C (p.Asn35616=)
c.102246T>C (p.Asn34082=)
c.102243T>C (p.Asn34081=)
c.99285T>C (p.Asn33095=)
c.80901T>C (p.Asn26967=)
c.102396T>C (p.Asn34132=)
c.102393T>C (p.Asn34131=)
c.101826T>C (p.Asn33942=)
c.99168T>C (p.Asn33056=)
c.99087T>C (p.Asn33029=)
c.80850T>C (p.Asn26950=)
c.70704T>C (p.Asn23568=)
2g.178527033A>TCA349398177TTN,TTN-AS1c.100251T>A (p.Asn33417Lys)
c.81336T>A (p.Asn27112Lys)
c.81135T>A (p.Asn27045Lys)
c.80760T>A (p.Asn26920Lys)
c.107955T>A (p.Asn35985Lys)
c.103032T>A (p.Asn34344Lys)
n.446+3397A>T
n.219+3397A>T
c.107052T>A (p.Asn35684Lys)
c.80946T>A (p.Asn26982Lys)
c.80805T>A (p.Asn26935Lys)
c.106848T>A (p.Asn35616Lys)
c.102246T>A (p.Asn34082Lys)
c.102243T>A (p.Asn34081Lys)
c.99285T>A (p.Asn33095Lys)
c.80901T>A (p.Asn26967Lys)
c.102396T>A (p.Asn34132Lys)
c.102393T>A (p.Asn34131Lys)
c.101826T>A (p.Asn33942Lys)
c.99168T>A (p.Asn33056Lys)
c.99087T>A (p.Asn33029Lys)
c.80850T>A (p.Asn26950Lys)
c.70704T>A (p.Asn23568Lys)
2g.178527034T>ACA349398178TTN,TTN-AS1c.100250A>T (p.Asn33417Ile)
c.81335A>T (p.Asn27112Ile)
c.81134A>T (p.Asn27045Ile)
c.80759A>T (p.Asn26920Ile)
c.107954A>T (p.Asn35985Ile)
c.103031A>T (p.Asn34344Ile)
n.446+3398T>A
n.219+3398T>A
c.107051A>T (p.Asn35684Ile)
c.80945A>T (p.Asn26982Ile)
c.80804A>T (p.Asn26935Ile)
c.106847A>T (p.Asn35616Ile)
c.102245A>T (p.Asn34082Ile)
c.102242A>T (p.Asn34081Ile)
c.99284A>T (p.Asn33095Ile)
c.80900A>T (p.Asn26967Ile)
c.102395A>T (p.Asn34132Ile)
c.102392A>T (p.Asn34131Ile)
c.101825A>T (p.Asn33942Ile)
c.99167A>T (p.Asn33056Ile)
c.99086A>T (p.Asn33029Ile)
c.80849A>T (p.Asn26950Ile)
c.70703A>T (p.Asn23568Ile)
2g.178527034T>CCA349398179TTN,TTN-AS1c.100250A>G (p.Asn33417Ser)
c.81335A>G (p.Asn27112Ser)
c.81134A>G (p.Asn27045Ser)
c.80759A>G (p.Asn26920Ser)
c.107954A>G (p.Asn35985Ser)
c.103031A>G (p.Asn34344Ser)
n.446+3398T>C
n.219+3398T>C
c.107051A>G (p.Asn35684Ser)
c.80945A>G (p.Asn26982Ser)
c.80804A>G (p.Asn26935Ser)
c.106847A>G (p.Asn35616Ser)
c.102245A>G (p.Asn34082Ser)
c.102242A>G (p.Asn34081Ser)
c.99284A>G (p.Asn33095Ser)
c.80900A>G (p.Asn26967Ser)
c.102395A>G (p.Asn34132Ser)
c.102392A>G (p.Asn34131Ser)
c.101825A>G (p.Asn33942Ser)
c.99167A>G (p.Asn33056Ser)
c.99086A>G (p.Asn33029Ser)
c.80849A>G (p.Asn26950Ser)
c.70703A>G (p.Asn23568Ser)
2g.178527034T>GCA349398180TTN,TTN-AS1c.100250A>C (p.Asn33417Thr)
c.81335A>C (p.Asn27112Thr)
c.81134A>C (p.Asn27045Thr)
c.80759A>C (p.Asn26920Thr)
c.107954A>C (p.Asn35985Thr)
c.103031A>C (p.Asn34344Thr)
n.446+3398T>G
n.219+3398T>G
c.107051A>C (p.Asn35684Thr)
c.80945A>C (p.Asn26982Thr)
c.80804A>C (p.Asn26935Thr)
c.106847A>C (p.Asn35616Thr)
c.102245A>C (p.Asn34082Thr)
c.102242A>C (p.Asn34081Thr)
c.99284A>C (p.Asn33095Thr)
c.80900A>C (p.Asn26967Thr)
c.102395A>C (p.Asn34132Thr)
c.102392A>C (p.Asn34131Thr)
c.101825A>C (p.Asn33942Thr)
c.99167A>C (p.Asn33056Thr)
c.99086A>C (p.Asn33029Thr)
c.80849A>C (p.Asn26950Thr)
c.70703A>C (p.Asn23568Thr)
2g.178527035T>ACA349398183TTN,TTN-AS1c.100249A>T (p.Asn33417Tyr)
c.81334A>T (p.Asn27112Tyr)
c.81133A>T (p.Asn27045Tyr)
c.80758A>T (p.Asn26920Tyr)
c.107953A>T (p.Asn35985Tyr)
c.103030A>T (p.Asn34344Tyr)
n.446+3399T>A
n.219+3399T>A
c.107050A>T (p.Asn35684Tyr)
c.80944A>T (p.Asn26982Tyr)
c.80803A>T (p.Asn26935Tyr)
c.106846A>T (p.Asn35616Tyr)
c.102244A>T (p.Asn34082Tyr)
c.102241A>T (p.Asn34081Tyr)
c.99283A>T (p.Asn33095Tyr)
c.80899A>T (p.Asn26967Tyr)
c.102394A>T (p.Asn34132Tyr)
c.102391A>T (p.Asn34131Tyr)
c.101824A>T (p.Asn33942Tyr)
c.99166A>T (p.Asn33056Tyr)
c.99085A>T (p.Asn33029Tyr)
c.80848A>T (p.Asn26950Tyr)
c.70702A>T (p.Asn23568Tyr)
2g.178527035T>CCA349398182TTN,TTN-AS1c.100249A>G (p.Asn33417Asp)
c.81334A>G (p.Asn27112Asp)
c.81133A>G (p.Asn27045Asp)
c.80758A>G (p.Asn26920Asp)
c.107953A>G (p.Asn35985Asp)
c.103030A>G (p.Asn34344Asp)
n.446+3399T>C
n.219+3399T>C
c.107050A>G (p.Asn35684Asp)
c.80944A>G (p.Asn26982Asp)
c.80803A>G (p.Asn26935Asp)
c.106846A>G (p.Asn35616Asp)
c.102244A>G (p.Asn34082Asp)
c.102241A>G (p.Asn34081Asp)
c.99283A>G (p.Asn33095Asp)
c.80899A>G (p.Asn26967Asp)
c.102394A>G (p.Asn34132Asp)
c.102391A>G (p.Asn34131Asp)
c.101824A>G (p.Asn33942Asp)
c.99166A>G (p.Asn33056Asp)
c.99085A>G (p.Asn33029Asp)
c.80848A>G (p.Asn26950Asp)
c.70702A>G (p.Asn23568Asp)
 COSMIC COSMIC COSMIC COSMIC
2g.178527035T>GCA349398181TTN,TTN-AS1c.100249A>C (p.Asn33417His)
c.81334A>C (p.Asn27112His)
c.81133A>C (p.Asn27045His)
c.80758A>C (p.Asn26920His)
c.107953A>C (p.Asn35985His)
c.103030A>C (p.Asn34344His)
n.446+3399T>G
n.219+3399T>G
c.107050A>C (p.Asn35684His)
c.80944A>C (p.Asn26982His)
c.80803A>C (p.Asn26935His)
c.106846A>C (p.Asn35616His)
c.102244A>C (p.Asn34082His)
c.102241A>C (p.Asn34081His)
c.99283A>C (p.Asn33095His)
c.80899A>C (p.Asn26967His)
c.102394A>C (p.Asn34132His)
c.102391A>C (p.Asn34131His)
c.101824A>C (p.Asn33942His)
c.99166A>C (p.Asn33056His)
c.99085A>C (p.Asn33029His)
c.80848A>C (p.Asn26950His)
c.70702A>C (p.Asn23568His)
2g.178527036C>ACA430091463TTN,TTN-AS1c.100248G>T (p.Val33416=)
c.81333G>T (p.Val27111=)
c.81132G>T (p.Val27044=)
c.80757G>T (p.Val26919=)
c.107952G>T (p.Val35984=)
c.103029G>T (p.Val34343=)
n.446+3400C>A
n.219+3400C>A
c.107049G>T (p.Val35683=)
c.80943G>T (p.Val26981=)
c.80802G>T (p.Val26934=)
c.106845G>T (p.Val35615=)
c.102243G>T (p.Val34081=)
c.102240G>T (p.Val34080=)
c.99282G>T (p.Val33094=)
c.80898G>T (p.Val26966=)
c.102393G>T (p.Val34131=)
c.102390G>T (p.Val34130=)
c.101823G>T (p.Val33941=)
c.99165G>T (p.Val33055=)
c.99084G>T (p.Val33028=)
c.80847G>T (p.Val26949=)
c.70701G>T (p.Val23567=)
 gnomAD v4
2g.178527036C=CA1310514278TTN,TTN-AS1c.100248G= (p.Val33416=)
c.81333G= (p.Val27111=)
c.81132G= (p.Val27044=)
c.80757G= (p.Val26919=)
c.107952G= (p.Val35984=)
c.103029G= (p.Val34343=)
n.446+3400C=
n.219+3400C=
c.107049G= (p.Val35683=)
c.80943G= (p.Val26981=)
c.80802G= (p.Val26934=)
c.106845G= (p.Val35615=)
c.102243G= (p.Val34081=)
c.102240G= (p.Val34080=)
c.99282G= (p.Val33094=)
c.80898G= (p.Val26966=)
c.102393G= (p.Val34131=)
c.102390G= (p.Val34130=)
c.101823G= (p.Val33941=)
c.99165G= (p.Val33055=)
c.99084G= (p.Val33028=)
c.80847G= (p.Val26949=)
c.70701G= (p.Val23567=)
2g.178527036C>GCA430091464TTN,TTN-AS1c.100248G>C (p.Val33416=)
c.81333G>C (p.Val27111=)
c.81132G>C (p.Val27044=)
c.80757G>C (p.Val26919=)
c.107952G>C (p.Val35984=)
c.103029G>C (p.Val34343=)
n.446+3400C>G
n.219+3400C>G
c.107049G>C (p.Val35683=)
c.80943G>C (p.Val26981=)
c.80802G>C (p.Val26934=)
c.106845G>C (p.Val35615=)
c.102243G>C (p.Val34081=)
c.102240G>C (p.Val34080=)
c.99282G>C (p.Val33094=)
c.80898G>C (p.Val26966=)
c.102393G>C (p.Val34131=)
c.102390G>C (p.Val34130=)
c.101823G>C (p.Val33941=)
c.99165G>C (p.Val33055=)
c.99084G>C (p.Val33028=)
c.80847G>C (p.Val26949=)
c.70701G>C (p.Val23567=)
2g.178527036C>TCA430091465TTN,TTN-AS1c.100248G>A (p.Val33416=)
c.81333G>A (p.Val27111=)
c.81132G>A (p.Val27044=)
c.80757G>A (p.Val26919=)
c.107952G>A (p.Val35984=)
c.103029G>A (p.Val34343=)
n.446+3400C>T
n.219+3400C>T
c.107049G>A (p.Val35683=)
c.80943G>A (p.Val26981=)
c.80802G>A (p.Val26934=)
c.106845G>A (p.Val35615=)
c.102243G>A (p.Val34081=)
c.102240G>A (p.Val34080=)
c.99282G>A (p.Val33094=)
c.80898G>A (p.Val26966=)
c.102393G>A (p.Val34131=)
c.102390G>A (p.Val34130=)
c.101823G>A (p.Val33941=)
c.99165G>A (p.Val33055=)
c.99084G>A (p.Val33028=)
c.80847G>A (p.Val26949=)
c.70701G>A (p.Val23567=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.178527037A=CA1310514279TTN,TTN-AS1c.100247T= (p.Val33416=)
c.81332T= (p.Val27111=)
c.81131T= (p.Val27044=)
c.80756T= (p.Val26919=)
c.107951T= (p.Val35984=)
c.103028T= (p.Val34343=)
n.446+3401A=
n.219+3401A=
c.107048T= (p.Val35683=)
c.80942T= (p.Val26981=)
c.80801T= (p.Val26934=)
c.106844T= (p.Val35615=)
c.102242T= (p.Val34081=)
c.102239T= (p.Val34080=)
c.99281T= (p.Val33094=)
c.80897T= (p.Val26966=)
c.102392T= (p.Val34131=)
c.102389T= (p.Val34130=)
c.101822T= (p.Val33941=)
c.99164T= (p.Val33055=)
c.99083T= (p.Val33028=)
c.80846T= (p.Val26949=)
c.70700T= (p.Val23567=)
2g.178527037A>CCA349398184TTN,TTN-AS1c.100247T>G (p.Val33416Gly)
c.81332T>G (p.Val27111Gly)
c.81131T>G (p.Val27044Gly)
c.80756T>G (p.Val26919Gly)
c.107951T>G (p.Val35984Gly)
c.103028T>G (p.Val34343Gly)
n.446+3401A>C
n.219+3401A>C
c.107048T>G (p.Val35683Gly)
c.80942T>G (p.Val26981Gly)
c.80801T>G (p.Val26934Gly)
c.106844T>G (p.Val35615Gly)
c.102242T>G (p.Val34081Gly)
c.102239T>G (p.Val34080Gly)
c.99281T>G (p.Val33094Gly)
c.80897T>G (p.Val26966Gly)
c.102392T>G (p.Val34131Gly)
c.102389T>G (p.Val34130Gly)
c.101822T>G (p.Val33941Gly)
c.99164T>G (p.Val33055Gly)
c.99083T>G (p.Val33028Gly)
c.80846T>G (p.Val26949Gly)
c.70700T>G (p.Val23567Gly)
2g.178527037A>GCA349398185TTN,TTN-AS1c.100247T>C (p.Val33416Ala)
c.81332T>C (p.Val27111Ala)
c.81131T>C (p.Val27044Ala)
c.80756T>C (p.Val26919Ala)
c.107951T>C (p.Val35984Ala)
c.103028T>C (p.Val34343Ala)
n.446+3401A>G
n.219+3401A>G
c.107048T>C (p.Val35683Ala)
c.80942T>C (p.Val26981Ala)
c.80801T>C (p.Val26934Ala)
c.106844T>C (p.Val35615Ala)
c.102242T>C (p.Val34081Ala)
c.102239T>C (p.Val34080Ala)
c.99281T>C (p.Val33094Ala)
c.80897T>C (p.Val26966Ala)
c.102392T>C (p.Val34131Ala)
c.102389T>C (p.Val34130Ala)
c.101822T>C (p.Val33941Ala)
c.99164T>C (p.Val33055Ala)
c.99083T>C (p.Val33028Ala)
c.80846T>C (p.Val26949Ala)
c.70700T>C (p.Val23567Ala)
 dbSNP
2g.178527037A>TCA349398186TTN,TTN-AS1c.100247T>A (p.Val33416Glu)
c.81332T>A (p.Val27111Glu)
c.81131T>A (p.Val27044Glu)
c.80756T>A (p.Val26919Glu)
c.107951T>A (p.Val35984Glu)
c.103028T>A (p.Val34343Glu)
n.446+3401A>T
n.219+3401A>T
c.107048T>A (p.Val35683Glu)
c.80942T>A (p.Val26981Glu)
c.80801T>A (p.Val26934Glu)
c.106844T>A (p.Val35615Glu)
c.102242T>A (p.Val34081Glu)
c.102239T>A (p.Val34080Glu)
c.99281T>A (p.Val33094Glu)
c.80897T>A (p.Val26966Glu)
c.102392T>A (p.Val34131Glu)
c.102389T>A (p.Val34130Glu)
c.101822T>A (p.Val33941Glu)
c.99164T>A (p.Val33055Glu)
c.99083T>A (p.Val33028Glu)
c.80846T>A (p.Val26949Glu)
c.70700T>A (p.Val23567Glu)
2g.178527038C>ACA349398187TTN,TTN-AS1c.100246G>T (p.Val33416Leu)
c.81331G>T (p.Val27111Leu)
c.81130G>T (p.Val27044Leu)
c.80755G>T (p.Val26919Leu)
c.107950G>T (p.Val35984Leu)
c.103027G>T (p.Val34343Leu)
n.446+3402C>A
n.219+3402C>A
c.107047G>T (p.Val35683Leu)
c.80941G>T (p.Val26981Leu)
c.80800G>T (p.Val26934Leu)
c.106843G>T (p.Val35615Leu)
c.102241G>T (p.Val34081Leu)
c.102238G>T (p.Val34080Leu)
c.99280G>T (p.Val33094Leu)
c.80896G>T (p.Val26966Leu)
c.102391G>T (p.Val34131Leu)
c.102388G>T (p.Val34130Leu)
c.101821G>T (p.Val33941Leu)
c.99163G>T (p.Val33055Leu)
c.99082G>T (p.Val33028Leu)
c.80845G>T (p.Val26949Leu)
c.70699G>T (p.Val23567Leu)
2g.178527038C>GCA349398188TTN,TTN-AS1c.100246G>C (p.Val33416Leu)
c.81331G>C (p.Val27111Leu)
c.81130G>C (p.Val27044Leu)
c.80755G>C (p.Val26919Leu)
c.107950G>C (p.Val35984Leu)
c.103027G>C (p.Val34343Leu)
n.446+3402C>G
n.219+3402C>G
c.107047G>C (p.Val35683Leu)
c.80941G>C (p.Val26981Leu)
c.80800G>C (p.Val26934Leu)
c.106843G>C (p.Val35615Leu)
c.102241G>C (p.Val34081Leu)
c.102238G>C (p.Val34080Leu)
c.99280G>C (p.Val33094Leu)
c.80896G>C (p.Val26966Leu)
c.102391G>C (p.Val34131Leu)
c.102388G>C (p.Val34130Leu)
c.101821G>C (p.Val33941Leu)
c.99163G>C (p.Val33055Leu)
c.99082G>C (p.Val33028Leu)
c.80845G>C (p.Val26949Leu)
c.70699G>C (p.Val23567Leu)
2g.178527038C>TCA349398189TTN,TTN-AS1c.100246G>A (p.Val33416Met)
c.81331G>A (p.Val27111Met)
c.81130G>A (p.Val27044Met)
c.80755G>A (p.Val26919Met)
c.107950G>A (p.Val35984Met)
c.103027G>A (p.Val34343Met)
n.446+3402C>T
n.219+3402C>T
c.107047G>A (p.Val35683Met)
c.80941G>A (p.Val26981Met)
c.80800G>A (p.Val26934Met)
c.106843G>A (p.Val35615Met)
c.102241G>A (p.Val34081Met)
c.102238G>A (p.Val34080Met)
c.99280G>A (p.Val33094Met)
c.80896G>A (p.Val26966Met)
c.102391G>A (p.Val34131Met)
c.102388G>A (p.Val34130Met)
c.101821G>A (p.Val33941Met)
c.99163G>A (p.Val33055Met)
c.99082G>A (p.Val33028Met)
c.80845G>A (p.Val26949Met)
c.70699G>A (p.Val23567Met)
2g.178527039A>CCA430091468TTN,TTN-AS1c.100245T>G (p.Thr33415=)
c.81330T>G (p.Thr27110=)
c.81129T>G (p.Thr27043=)
c.80754T>G (p.Thr26918=)
c.107949T>G (p.Thr35983=)
c.103026T>G (p.Thr34342=)
n.446+3403A>C
n.219+3403A>C
c.107046T>G (p.Thr35682=)
c.80940T>G (p.Thr26980=)
c.80799T>G (p.Thr26933=)
c.106842T>G (p.Thr35614=)
c.102240T>G (p.Thr34080=)
c.102237T>G (p.Thr34079=)
c.99279T>G (p.Thr33093=)
c.80895T>G (p.Thr26965=)
c.102390T>G (p.Thr34130=)
c.102387T>G (p.Thr34129=)
c.101820T>G (p.Thr33940=)
c.99162T>G (p.Thr33054=)
c.99081T>G (p.Thr33027=)
c.80844T>G (p.Thr26948=)
c.70698T>G (p.Thr23566=)
2g.178527039A>GCA430091467TTN,TTN-AS1c.100245T>C (p.Thr33415=)
c.81330T>C (p.Thr27110=)
c.81129T>C (p.Thr27043=)
c.80754T>C (p.Thr26918=)
c.107949T>C (p.Thr35983=)
c.103026T>C (p.Thr34342=)
n.446+3403A>G
n.219+3403A>G
c.107046T>C (p.Thr35682=)
c.80940T>C (p.Thr26980=)
c.80799T>C (p.Thr26933=)
c.106842T>C (p.Thr35614=)
c.102240T>C (p.Thr34080=)
c.102237T>C (p.Thr34079=)
c.99279T>C (p.Thr33093=)
c.80895T>C (p.Thr26965=)
c.102390T>C (p.Thr34130=)
c.102387T>C (p.Thr34129=)
c.101820T>C (p.Thr33940=)
c.99162T>C (p.Thr33054=)
c.99081T>C (p.Thr33027=)
c.80844T>C (p.Thr26948=)
c.70698T>C (p.Thr23566=)
 ClinVar
2g.178527039A>TCA430091466TTN,TTN-AS1c.100245T>A (p.Thr33415=)
c.81330T>A (p.Thr27110=)
c.81129T>A (p.Thr27043=)
c.80754T>A (p.Thr26918=)
c.107949T>A (p.Thr35983=)
c.103026T>A (p.Thr34342=)
n.446+3403A>T
n.219+3403A>T
c.107046T>A (p.Thr35682=)
c.80940T>A (p.Thr26980=)
c.80799T>A (p.Thr26933=)
c.106842T>A (p.Thr35614=)
c.102240T>A (p.Thr34080=)
c.102237T>A (p.Thr34079=)
c.99279T>A (p.Thr33093=)
c.80895T>A (p.Thr26965=)
c.102390T>A (p.Thr34130=)
c.102387T>A (p.Thr34129=)
c.101820T>A (p.Thr33940=)
c.99162T>A (p.Thr33054=)
c.99081T>A (p.Thr33027=)
c.80844T>A (p.Thr26948=)
c.70698T>A (p.Thr23566=)
 gnomAD v4
2g.178527040G>ACA349398192TTN,TTN-AS1c.100244C>T (p.Thr33415Ile)
c.81329C>T (p.Thr27110Ile)
c.81128C>T (p.Thr27043Ile)
c.80753C>T (p.Thr26918Ile)
c.107948C>T (p.Thr35983Ile)
c.103025C>T (p.Thr34342Ile)
n.446+3404G>A
n.219+3404G>A
c.107045C>T (p.Thr35682Ile)
c.80939C>T (p.Thr26980Ile)
c.80798C>T (p.Thr26933Ile)
c.106841C>T (p.Thr35614Ile)
c.102239C>T (p.Thr34080Ile)
c.102236C>T (p.Thr34079Ile)
c.99278C>T (p.Thr33093Ile)
c.80894C>T (p.Thr26965Ile)
c.102389C>T (p.Thr34130Ile)
c.102386C>T (p.Thr34129Ile)
c.101819C>T (p.Thr33940Ile)
c.99161C>T (p.Thr33054Ile)
c.99080C>T (p.Thr33027Ile)
c.80843C>T (p.Thr26948Ile)
c.70697C>T (p.Thr23566Ile)
2g.178527040G>CCA349398190TTN,TTN-AS1c.100244C>G (p.Thr33415Ser)
c.81329C>G (p.Thr27110Ser)
c.81128C>G (p.Thr27043Ser)
c.80753C>G (p.Thr26918Ser)
c.107948C>G (p.Thr35983Ser)
c.103025C>G (p.Thr34342Ser)
n.446+3404G>C
n.219+3404G>C
c.107045C>G (p.Thr35682Ser)
c.80939C>G (p.Thr26980Ser)
c.80798C>G (p.Thr26933Ser)
c.106841C>G (p.Thr35614Ser)
c.102239C>G (p.Thr34080Ser)
c.102236C>G (p.Thr34079Ser)
c.99278C>G (p.Thr33093Ser)
c.80894C>G (p.Thr26965Ser)
c.102389C>G (p.Thr34130Ser)
c.102386C>G (p.Thr34129Ser)
c.101819C>G (p.Thr33940Ser)
c.99161C>G (p.Thr33054Ser)
c.99080C>G (p.Thr33027Ser)
c.80843C>G (p.Thr26948Ser)
c.70697C>G (p.Thr23566Ser)
2g.178527040G>TCA349398191TTN,TTN-AS1c.100244C>A (p.Thr33415Asn)
c.81329C>A (p.Thr27110Asn)
c.81128C>A (p.Thr27043Asn)
c.80753C>A (p.Thr26918Asn)
c.107948C>A (p.Thr35983Asn)
c.103025C>A (p.Thr34342Asn)
n.446+3404G>T
n.219+3404G>T
c.107045C>A (p.Thr35682Asn)
c.80939C>A (p.Thr26980Asn)
c.80798C>A (p.Thr26933Asn)
c.106841C>A (p.Thr35614Asn)
c.102239C>A (p.Thr34080Asn)
c.102236C>A (p.Thr34079Asn)
c.99278C>A (p.Thr33093Asn)
c.80894C>A (p.Thr26965Asn)
c.102389C>A (p.Thr34130Asn)
c.102386C>A (p.Thr34129Asn)
c.101819C>A (p.Thr33940Asn)
c.99161C>A (p.Thr33054Asn)
c.99080C>A (p.Thr33027Asn)
c.80843C>A (p.Thr26948Asn)
c.70697C>A (p.Thr23566Asn)
2g.178527041T>ACA349398193TTN,TTN-AS1c.100243A>T (p.Thr33415Ser)
c.81328A>T (p.Thr27110Ser)
c.81127A>T (p.Thr27043Ser)
c.80752A>T (p.Thr26918Ser)
c.107947A>T (p.Thr35983Ser)
c.103024A>T (p.Thr34342Ser)
n.446+3405T>A
n.219+3405T>A
c.107044A>T (p.Thr35682Ser)
c.80938A>T (p.Thr26980Ser)
c.80797A>T (p.Thr26933Ser)
c.106840A>T (p.Thr35614Ser)
c.102238A>T (p.Thr34080Ser)
c.102235A>T (p.Thr34079Ser)
c.99277A>T (p.Thr33093Ser)
c.80893A>T (p.Thr26965Ser)
c.102388A>T (p.Thr34130Ser)
c.102385A>T (p.Thr34129Ser)
c.101818A>T (p.Thr33940Ser)
c.99160A>T (p.Thr33054Ser)
c.99079A>T (p.Thr33027Ser)
c.80842A>T (p.Thr26948Ser)
c.70696A>T (p.Thr23566Ser)
2g.178527041T>CCA349398194TTN,TTN-AS1c.100243A>G (p.Thr33415Ala)
c.81328A>G (p.Thr27110Ala)
c.81127A>G (p.Thr27043Ala)
c.80752A>G (p.Thr26918Ala)
c.107947A>G (p.Thr35983Ala)
c.103024A>G (p.Thr34342Ala)
n.446+3405T>C
n.219+3405T>C
c.107044A>G (p.Thr35682Ala)
c.80938A>G (p.Thr26980Ala)
c.80797A>G (p.Thr26933Ala)
c.106840A>G (p.Thr35614Ala)
c.102238A>G (p.Thr34080Ala)
c.102235A>G (p.Thr34079Ala)
c.99277A>G (p.Thr33093Ala)
c.80893A>G (p.Thr26965Ala)
c.102388A>G (p.Thr34130Ala)
c.102385A>G (p.Thr34129Ala)
c.101818A>G (p.Thr33940Ala)
c.99160A>G (p.Thr33054Ala)
c.99079A>G (p.Thr33027Ala)
c.80842A>G (p.Thr26948Ala)
c.70696A>G (p.Thr23566Ala)
 dbSNP gnomAD v2 gnomAD v4
2g.178527041T>GCA1984855TTN,TTN-AS1c.100243A>C (p.Thr33415Pro)
c.81328A>C (p.Thr27110Pro)
c.81127A>C (p.Thr27043Pro)
c.80752A>C (p.Thr26918Pro)
c.107947A>C (p.Thr35983Pro)
c.103024A>C (p.Thr34342Pro)
n.446+3405T>G
n.219+3405T>G
c.107044A>C (p.Thr35682Pro)
c.80938A>C (p.Thr26980Pro)
c.80797A>C (p.Thr26933Pro)
c.106840A>C (p.Thr35614Pro)
c.102238A>C (p.Thr34080Pro)
c.102235A>C (p.Thr34079Pro)
c.99277A>C (p.Thr33093Pro)
c.80893A>C (p.Thr26965Pro)
c.102388A>C (p.Thr34130Pro)
c.102385A>C (p.Thr34129Pro)
c.101818A>C (p.Thr33940Pro)
c.99160A>C (p.Thr33054Pro)
c.99079A>C (p.Thr33027Pro)
c.80842A>C (p.Thr26948Pro)
c.70696A>C (p.Thr23566Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.178527041T=CA1310514280TTN,TTN-AS1c.100243A= (p.Thr33415=)
c.81328A= (p.Thr27110=)
c.81127A= (p.Thr27043=)
c.80752A= (p.Thr26918=)
c.107947A= (p.Thr35983=)
c.103024A= (p.Thr34342=)
n.446+3405T=
n.219+3405T=
c.107044A= (p.Thr35682=)
c.80938A= (p.Thr26980=)
c.80797A= (p.Thr26933=)
c.106840A= (p.Thr35614=)
c.102238A= (p.Thr34080=)
c.102235A= (p.Thr34079=)
c.99277A= (p.Thr33093=)
c.80893A= (p.Thr26965=)
c.102388A= (p.Thr34130=)
c.102385A= (p.Thr34129=)
c.101818A= (p.Thr33940=)
c.99160A= (p.Thr33054=)
c.99079A= (p.Thr33027=)
c.80842A= (p.Thr26948=)
c.70696A= (p.Thr23566=)
2g.178527042G>ACA430091469TTN,TTN-AS1c.100242C>T (p.Ala33414=)
c.81327C>T (p.Ala27109=)
c.81126C>T (p.Ala27042=)
c.80751C>T (p.Ala26917=)
c.107946C>T (p.Ala35982=)
c.103023C>T (p.Ala34341=)
n.446+3406G>A
n.219+3406G>A
c.107043C>T (p.Ala35681=)
c.80937C>T (p.Ala26979=)
c.80796C>T (p.Ala26932=)
c.106839C>T (p.Ala35613=)
c.102237C>T (p.Ala34079=)
c.102234C>T (p.Ala34078=)
c.99276C>T (p.Ala33092=)
c.80892C>T (p.Ala26964=)
c.102387C>T (p.Ala34129=)
c.102384C>T (p.Ala34128=)
c.101817C>T (p.Ala33939=)
c.99159C>T (p.Ala33053=)
c.99078C>T (p.Ala33026=)
c.80841C>T (p.Ala26947=)
c.70695C>T (p.Ala23565=)
 dbSNP gnomAD v4
2g.178527042G>CCA430091470TTN,TTN-AS1c.100242C>G (p.Ala33414=)
c.81327C>G (p.Ala27109=)
c.81126C>G (p.Ala27042=)
c.80751C>G (p.Ala26917=)
c.107946C>G (p.Ala35982=)
c.103023C>G (p.Ala34341=)
n.446+3406G>C
n.219+3406G>C
c.107043C>G (p.Ala35681=)
c.80937C>G (p.Ala26979=)
c.80796C>G (p.Ala26932=)
c.106839C>G (p.Ala35613=)
c.102237C>G (p.Ala34079=)
c.102234C>G (p.Ala34078=)
c.99276C>G (p.Ala33092=)
c.80892C>G (p.Ala26964=)
c.102387C>G (p.Ala34129=)
c.102384C>G (p.Ala34128=)
c.101817C>G (p.Ala33939=)
c.99159C>G (p.Ala33053=)
c.99078C>G (p.Ala33026=)
c.80841C>G (p.Ala26947=)
c.70695C>G (p.Ala23565=)
2g.178527042G>TCA430091471TTN,TTN-AS1c.100242C>A (p.Ala33414=)
c.81327C>A (p.Ala27109=)
c.81126C>A (p.Ala27042=)
c.80751C>A (p.Ala26917=)
c.107946C>A (p.Ala35982=)
c.103023C>A (p.Ala34341=)
n.446+3406G>T
n.219+3406G>T
c.107043C>A (p.Ala35681=)
c.80937C>A (p.Ala26979=)
c.80796C>A (p.Ala26932=)
c.106839C>A (p.Ala35613=)
c.102237C>A (p.Ala34079=)
c.102234C>A (p.Ala34078=)
c.99276C>A (p.Ala33092=)
c.80892C>A (p.Ala26964=)
c.102387C>A (p.Ala34129=)
c.102384C>A (p.Ala34128=)
c.101817C>A (p.Ala33939=)
c.99159C>A (p.Ala33053=)
c.99078C>A (p.Ala33026=)
c.80841C>A (p.Ala26947=)
c.70695C>A (p.Ala23565=)
2g.178527043G>ACA349398195TTN,TTN-AS1c.100241C>T (p.Ala33414Val)
c.81326C>T (p.Ala27109Val)
c.81125C>T (p.Ala27042Val)
c.80750C>T (p.Ala26917Val)
c.107945C>T (p.Ala35982Val)
c.103022C>T (p.Ala34341Val)
n.446+3407G>A
n.219+3407G>A
c.107042C>T (p.Ala35681Val)
c.80936C>T (p.Ala26979Val)
c.80795C>T (p.Ala26932Val)
c.106838C>T (p.Ala35613Val)
c.102236C>T (p.Ala34079Val)
c.102233C>T (p.Ala34078Val)
c.99275C>T (p.Ala33092Val)
c.80891C>T (p.Ala26964Val)
c.102386C>T (p.Ala34129Val)
c.102383C>T (p.Ala34128Val)
c.101816C>T (p.Ala33939Val)
c.99158C>T (p.Ala33053Val)
c.99077C>T (p.Ala33026Val)
c.80840C>T (p.Ala26947Val)
c.70694C>T (p.Ala23565Val)
 gnomAD v4
2g.178527043G>CCA349398196TTN,TTN-AS1c.100241C>G (p.Ala33414Gly)
c.81326C>G (p.Ala27109Gly)
c.81125C>G (p.Ala27042Gly)
c.80750C>G (p.Ala26917Gly)
c.107945C>G (p.Ala35982Gly)
c.103022C>G (p.Ala34341Gly)
n.446+3407G>C
n.219+3407G>C
c.107042C>G (p.Ala35681Gly)
c.80936C>G (p.Ala26979Gly)
c.80795C>G (p.Ala26932Gly)
c.106838C>G (p.Ala35613Gly)
c.102236C>G (p.Ala34079Gly)
c.102233C>G (p.Ala34078Gly)
c.99275C>G (p.Ala33092Gly)
c.80891C>G (p.Ala26964Gly)
c.102386C>G (p.Ala34129Gly)
c.102383C>G (p.Ala34128Gly)
c.101816C>G (p.Ala33939Gly)
c.99158C>G (p.Ala33053Gly)
c.99077C>G (p.Ala33026Gly)
c.80840C>G (p.Ala26947Gly)
c.70694C>G (p.Ala23565Gly)
2g.178527043G>TCA349398197TTN,TTN-AS1c.100241C>A (p.Ala33414Asp)
c.81326C>A (p.Ala27109Asp)
c.81125C>A (p.Ala27042Asp)
c.80750C>A (p.Ala26917Asp)
c.107945C>A (p.Ala35982Asp)
c.103022C>A (p.Ala34341Asp)
n.446+3407G>T
n.219+3407G>T
c.107042C>A (p.Ala35681Asp)
c.80936C>A (p.Ala26979Asp)
c.80795C>A (p.Ala26932Asp)
c.106838C>A (p.Ala35613Asp)
c.102236C>A (p.Ala34079Asp)
c.102233C>A (p.Ala34078Asp)
c.99275C>A (p.Ala33092Asp)
c.80891C>A (p.Ala26964Asp)
c.102386C>A (p.Ala34129Asp)
c.102383C>A (p.Ala34128Asp)
c.101816C>A (p.Ala33939Asp)
c.99158C>A (p.Ala33053Asp)
c.99077C>A (p.Ala33026Asp)
c.80840C>A (p.Ala26947Asp)
c.70694C>A (p.Ala23565Asp)
 dbSNP
2g.178527044C>ACA349398198TTN,TTN-AS1c.100240G>T (p.Ala33414Ser)
c.81325G>T (p.Ala27109Ser)
c.81124G>T (p.Ala27042Ser)
c.80749G>T (p.Ala26917Ser)
c.107944G>T (p.Ala35982Ser)
c.103021G>T (p.Ala34341Ser)
n.446+3408C>A
n.219+3408C>A
c.107041G>T (p.Ala35681Ser)
c.80935G>T (p.Ala26979Ser)
c.80794G>T (p.Ala26932Ser)
c.106837G>T (p.Ala35613Ser)
c.102235G>T (p.Ala34079Ser)
c.102232G>T (p.Ala34078Ser)
c.99274G>T (p.Ala33092Ser)
c.80890G>T (p.Ala26964Ser)
c.102385G>T (p.Ala34129Ser)
c.102382G>T (p.Ala34128Ser)
c.101815G>T (p.Ala33939Ser)
c.99157G>T (p.Ala33053Ser)
c.99076G>T (p.Ala33026Ser)
c.80839G>T (p.Ala26947Ser)
c.70693G>T (p.Ala23565Ser)
2g.178527044C>GCA349398199TTN,TTN-AS1c.100240G>C (p.Ala33414Pro)
c.81325G>C (p.Ala27109Pro)
c.81124G>C (p.Ala27042Pro)
c.80749G>C (p.Ala26917Pro)
c.107944G>C (p.Ala35982Pro)
c.103021G>C (p.Ala34341Pro)
n.446+3408C>G
n.219+3408C>G
c.107041G>C (p.Ala35681Pro)
c.80935G>C (p.Ala26979Pro)
c.80794G>C (p.Ala26932Pro)
c.106837G>C (p.Ala35613Pro)
c.102235G>C (p.Ala34079Pro)
c.102232G>C (p.Ala34078Pro)
c.99274G>C (p.Ala33092Pro)
c.80890G>C (p.Ala26964Pro)
c.102385G>C (p.Ala34129Pro)
c.102382G>C (p.Ala34128Pro)
c.101815G>C (p.Ala33939Pro)
c.99157G>C (p.Ala33053Pro)
c.99076G>C (p.Ala33026Pro)
c.80839G>C (p.Ala26947Pro)
c.70693G>C (p.Ala23565Pro)
2g.178527044C>TCA349398200TTN,TTN-AS1c.100240G>A (p.Ala33414Thr)
c.81325G>A (p.Ala27109Thr)
c.81124G>A (p.Ala27042Thr)
c.80749G>A (p.Ala26917Thr)
c.107944G>A (p.Ala35982Thr)
c.103021G>A (p.Ala34341Thr)
n.446+3408C>T
n.219+3408C>T
c.107041G>A (p.Ala35681Thr)
c.80935G>A (p.Ala26979Thr)
c.80794G>A (p.Ala26932Thr)
c.106837G>A (p.Ala35613Thr)
c.102235G>A (p.Ala34079Thr)
c.102232G>A (p.Ala34078Thr)
c.99274G>A (p.Ala33092Thr)
c.80890G>A (p.Ala26964Thr)
c.102385G>A (p.Ala34129Thr)
c.102382G>A (p.Ala34128Thr)
c.101815G>A (p.Ala33939Thr)
c.99157G>A (p.Ala33053Thr)
c.99076G>A (p.Ala33026Thr)
c.80839G>A (p.Ala26947Thr)
c.70693G>A (p.Ala23565Thr)
2g.178527045A>CCA430091473TTN,TTN-AS1c.100239T>G (p.Ser33413=)
c.81324T>G (p.Ser27108=)
c.81123T>G (p.Ser27041=)
c.80748T>G (p.Ser26916=)
c.107943T>G (p.Ser35981=)
c.103020T>G (p.Ser34340=)
n.446+3409A>C
n.219+3409A>C
c.107040T>G (p.Ser35680=)
c.80934T>G (p.Ser26978=)
c.80793T>G (p.Ser26931=)
c.106836T>G (p.Ser35612=)
c.102234T>G (p.Ser34078=)
c.102231T>G (p.Ser34077=)
c.99273T>G (p.Ser33091=)
c.80889T>G (p.Ser26963=)
c.102384T>G (p.Ser34128=)
c.102381T>G (p.Ser34127=)
c.101814T>G (p.Ser33938=)
c.99156T>G (p.Ser33052=)
c.99075T>G (p.Ser33025=)
c.80838T>G (p.Ser26946=)
c.70692T>G (p.Ser23564=)
 COSMIC COSMIC COSMIC COSMIC
2g.178527045A>GCA430091475TTN,TTN-AS1c.100239T>C (p.Ser33413=)
c.81324T>C (p.Ser27108=)
c.81123T>C (p.Ser27041=)
c.80748T>C (p.Ser26916=)
c.107943T>C (p.Ser35981=)
c.103020T>C (p.Ser34340=)
n.446+3409A>G
n.219+3409A>G
c.107040T>C (p.Ser35680=)
c.80934T>C (p.Ser26978=)
c.80793T>C (p.Ser26931=)
c.106836T>C (p.Ser35612=)
c.102234T>C (p.Ser34078=)
c.102231T>C (p.Ser34077=)
c.99273T>C (p.Ser33091=)
c.80889T>C (p.Ser26963=)
c.102384T>C (p.Ser34128=)
c.102381T>C (p.Ser34127=)
c.101814T>C (p.Ser33938=)
c.99156T>C (p.Ser33052=)
c.99075T>C (p.Ser33025=)
c.80838T>C (p.Ser26946=)
c.70692T>C (p.Ser23564=)
 gnomAD v4
2g.178527045A>TCA430091474TTN,TTN-AS1c.100239T>A (p.Ser33413=)
c.81324T>A (p.Ser27108=)
c.81123T>A (p.Ser27041=)
c.80748T>A (p.Ser26916=)
c.107943T>A (p.Ser35981=)
c.103020T>A (p.Ser34340=)
n.446+3409A>T
n.219+3409A>T
c.107040T>A (p.Ser35680=)
c.80934T>A (p.Ser26978=)
c.80793T>A (p.Ser26931=)
c.106836T>A (p.Ser35612=)
c.102234T>A (p.Ser34078=)
c.102231T>A (p.Ser34077=)
c.99273T>A (p.Ser33091=)
c.80889T>A (p.Ser26963=)
c.102384T>A (p.Ser34128=)
c.102381T>A (p.Ser34127=)
c.101814T>A (p.Ser33938=)
c.99156T>A (p.Ser33052=)
c.99075T>A (p.Ser33025=)
c.80838T>A (p.Ser26946=)
c.70692T>A (p.Ser23564=)
2g.178527046G>ACA349398201TTN,TTN-AS1c.100238C>T (p.Ser33413Phe)
c.81323C>T (p.Ser27108Phe)
c.81122C>T (p.Ser27041Phe)
c.80747C>T (p.Ser26916Phe)
c.107942C>T (p.Ser35981Phe)
c.103019C>T (p.Ser34340Phe)
n.446+3410G>A
n.219+3410G>A
c.107039C>T (p.Ser35680Phe)
c.80933C>T (p.Ser26978Phe)
c.80792C>T (p.Ser26931Phe)
c.106835C>T (p.Ser35612Phe)
c.102233C>T (p.Ser34078Phe)
c.102230C>T (p.Ser34077Phe)
c.99272C>T (p.Ser33091Phe)
c.80888C>T (p.Ser26963Phe)
c.102383C>T (p.Ser34128Phe)
c.102380C>T (p.Ser34127Phe)
c.101813C>T (p.Ser33938Phe)
c.99155C>T (p.Ser33052Phe)
c.99074C>T (p.Ser33025Phe)
c.80837C>T (p.Ser26946Phe)
c.70691C>T (p.Ser23564Phe)
2g.178527046G>CCA349398202TTN,TTN-AS1c.100238C>G (p.Ser33413Cys)
c.81323C>G (p.Ser27108Cys)
c.81122C>G (p.Ser27041Cys)
c.80747C>G (p.Ser26916Cys)
c.107942C>G (p.Ser35981Cys)
c.103019C>G (p.Ser34340Cys)
n.446+3410G>C
n.219+3410G>C
c.107039C>G (p.Ser35680Cys)
c.80933C>G (p.Ser26978Cys)
c.80792C>G (p.Ser26931Cys)
c.106835C>G (p.Ser35612Cys)
c.102233C>G (p.Ser34078Cys)
c.102230C>G (p.Ser34077Cys)
c.99272C>G (p.Ser33091Cys)
c.80888C>G (p.Ser26963Cys)
c.102383C>G (p.Ser34128Cys)
c.102380C>G (p.Ser34127Cys)
c.101813C>G (p.Ser33938Cys)
c.99155C>G (p.Ser33052Cys)
c.99074C>G (p.Ser33025Cys)
c.80837C>G (p.Ser26946Cys)
c.70691C>G (p.Ser23564Cys)
2g.178527046G>TCA349398203TTN,TTN-AS1c.100238C>A (p.Ser33413Tyr)
c.81323C>A (p.Ser27108Tyr)
c.81122C>A (p.Ser27041Tyr)
c.80747C>A (p.Ser26916Tyr)
c.107942C>A (p.Ser35981Tyr)
c.103019C>A (p.Ser34340Tyr)
n.446+3410G>T
n.219+3410G>T
c.107039C>A (p.Ser35680Tyr)
c.80933C>A (p.Ser26978Tyr)
c.80792C>A (p.Ser26931Tyr)
c.106835C>A (p.Ser35612Tyr)
c.102233C>A (p.Ser34078Tyr)
c.102230C>A (p.Ser34077Tyr)
c.99272C>A (p.Ser33091Tyr)
c.80888C>A (p.Ser26963Tyr)
c.102383C>A (p.Ser34128Tyr)
c.102380C>A (p.Ser34127Tyr)
c.101813C>A (p.Ser33938Tyr)
c.99155C>A (p.Ser33052Tyr)
c.99074C>A (p.Ser33025Tyr)
c.80837C>A (p.Ser26946Tyr)
c.70691C>A (p.Ser23564Tyr)
2g.178527047A>CCA349398205TTN,TTN-AS1c.100237T>G (p.Ser33413Ala)
c.81322T>G (p.Ser27108Ala)
c.81121T>G (p.Ser27041Ala)
c.80746T>G (p.Ser26916Ala)
c.107941T>G (p.Ser35981Ala)
c.103018T>G (p.Ser34340Ala)
n.446+3411A>C
n.219+3411A>C
c.107038T>G (p.Ser35680Ala)
c.80932T>G (p.Ser26978Ala)
c.80791T>G (p.Ser26931Ala)
c.106834T>G (p.Ser35612Ala)
c.102232T>G (p.Ser34078Ala)
c.102229T>G (p.Ser34077Ala)
c.99271T>G (p.Ser33091Ala)
c.80887T>G (p.Ser26963Ala)
c.102382T>G (p.Ser34128Ala)
c.102379T>G (p.Ser34127Ala)
c.101812T>G (p.Ser33938Ala)
c.99154T>G (p.Ser33052Ala)
c.99073T>G (p.Ser33025Ala)
c.80836T>G (p.Ser26946Ala)
c.70690T>G (p.Ser23564Ala)
2g.178527047A>GCA349398208TTN,TTN-AS1c.100237T>C (p.Ser33413Pro)
c.81322T>C (p.Ser27108Pro)
c.81121T>C (p.Ser27041Pro)
c.80746T>C (p.Ser26916Pro)
c.107941T>C (p.Ser35981Pro)
c.103018T>C (p.Ser34340Pro)
n.446+3411A>G
n.219+3411A>G
c.107038T>C (p.Ser35680Pro)
c.80932T>C (p.Ser26978Pro)
c.80791T>C (p.Ser26931Pro)
c.106834T>C (p.Ser35612Pro)
c.102232T>C (p.Ser34078Pro)
c.102229T>C (p.Ser34077Pro)
c.99271T>C (p.Ser33091Pro)
c.80887T>C (p.Ser26963Pro)
c.102382T>C (p.Ser34128Pro)
c.102379T>C (p.Ser34127Pro)
c.101812T>C (p.Ser33938Pro)
c.99154T>C (p.Ser33052Pro)
c.99073T>C (p.Ser33025Pro)
c.80836T>C (p.Ser26946Pro)
c.70690T>C (p.Ser23564Pro)
 gnomAD v4
2g.178527047A>TCA349398207TTN,TTN-AS1c.100237T>A (p.Ser33413Thr)
c.81322T>A (p.Ser27108Thr)
c.81121T>A (p.Ser27041Thr)
c.80746T>A (p.Ser26916Thr)
c.107941T>A (p.Ser35981Thr)
c.103018T>A (p.Ser34340Thr)
n.446+3411A>T
n.219+3411A>T
c.107038T>A (p.Ser35680Thr)
c.80932T>A (p.Ser26978Thr)
c.80791T>A (p.Ser26931Thr)
c.106834T>A (p.Ser35612Thr)
c.102232T>A (p.Ser34078Thr)
c.102229T>A (p.Ser34077Thr)
c.99271T>A (p.Ser33091Thr)
c.80887T>A (p.Ser26963Thr)
c.102382T>A (p.Ser34128Thr)
c.102379T>A (p.Ser34127Thr)
c.101812T>A (p.Ser33938Thr)
c.99154T>A (p.Ser33052Thr)
c.99073T>A (p.Ser33025Thr)
c.80836T>A (p.Ser26946Thr)
c.70690T>A (p.Ser23564Thr)
2g.178527048G>ACA430091478TTN,TTN-AS1c.100236C>T (p.Asp33412=)
c.81321C>T (p.Asp27107=)
c.81120C>T (p.Asp27040=)
c.80745C>T (p.Asp26915=)
c.107940C>T (p.Asp35980=)
c.103017C>T (p.Asp34339=)
n.446+3412G>A
n.219+3412G>A
c.107037C>T (p.Asp35679=)
c.80931C>T (p.Asp26977=)
c.80790C>T (p.Asp26930=)
c.106833C>T (p.Asp35611=)
c.102231C>T (p.Asp34077=)
c.102228C>T (p.Asp34076=)
c.99270C>T (p.Asp33090=)
c.80886C>T (p.Asp26962=)
c.102381C>T (p.Asp34127=)
c.102378C>T (p.Asp34126=)
c.101811C>T (p.Asp33937=)
c.99153C>T (p.Asp33051=)
c.99072C>T (p.Asp33024=)
c.80835C>T (p.Asp26945=)
c.70689C>T (p.Asp23563=)
 ClinVar gnomAD v4
2g.178527048G>CCA349398210TTN,TTN-AS1c.100236C>G (p.Asp33412Glu)
c.81321C>G (p.Asp27107Glu)
c.81120C>G (p.Asp27040Glu)
c.80745C>G (p.Asp26915Glu)
c.107940C>G (p.Asp35980Glu)
c.103017C>G (p.Asp34339Glu)
n.446+3412G>C
n.219+3412G>C
c.107037C>G (p.Asp35679Glu)
c.80931C>G (p.Asp26977Glu)
c.80790C>G (p.Asp26930Glu)
c.106833C>G (p.Asp35611Glu)
c.102231C>G (p.Asp34077Glu)
c.102228C>G (p.Asp34076Glu)
c.99270C>G (p.Asp33090Glu)
c.80886C>G (p.Asp26962Glu)
c.102381C>G (p.Asp34127Glu)
c.102378C>G (p.Asp34126Glu)
c.101811C>G (p.Asp33937Glu)
c.99153C>G (p.Asp33051Glu)
c.99072C>G (p.Asp33024Glu)
c.80835C>G (p.Asp26945Glu)
c.70689C>G (p.Asp23563Glu)
2g.178527048G>TCA349398211TTN,TTN-AS1c.100236C>A (p.Asp33412Glu)
c.81321C>A (p.Asp27107Glu)
c.81120C>A (p.Asp27040Glu)
c.80745C>A (p.Asp26915Glu)
c.107940C>A (p.Asp35980Glu)
c.103017C>A (p.Asp34339Glu)
n.446+3412G>T
n.219+3412G>T
c.107037C>A (p.Asp35679Glu)
c.80931C>A (p.Asp26977Glu)
c.80790C>A (p.Asp26930Glu)
c.106833C>A (p.Asp35611Glu)
c.102231C>A (p.Asp34077Glu)
c.102228C>A (p.Asp34076Glu)
c.99270C>A (p.Asp33090Glu)
c.80886C>A (p.Asp26962Glu)
c.102381C>A (p.Asp34127Glu)
c.102378C>A (p.Asp34126Glu)
c.101811C>A (p.Asp33937Glu)
c.99153C>A (p.Asp33051Glu)
c.99072C>A (p.Asp33024Glu)
c.80835C>A (p.Asp26945Glu)
c.70689C>A (p.Asp23563Glu)
2g.178527049T>ACA349398214TTN,TTN-AS1c.100235A>T (p.Asp33412Val)
c.81320A>T (p.Asp27107Val)
c.81119A>T (p.Asp27040Val)
c.80744A>T (p.Asp26915Val)
c.107939A>T (p.Asp35980Val)
c.103016A>T (p.Asp34339Val)
n.446+3413T>A
n.219+3413T>A
c.107036A>T (p.Asp35679Val)
c.80930A>T (p.Asp26977Val)
c.80789A>T (p.Asp26930Val)
c.106832A>T (p.Asp35611Val)
c.102230A>T (p.Asp34077Val)
c.102227A>T (p.Asp34076Val)
c.99269A>T (p.Asp33090Val)
c.80885A>T (p.Asp26962Val)
c.102380A>T (p.Asp34127Val)
c.102377A>T (p.Asp34126Val)
c.101810A>T (p.Asp33937Val)
c.99152A>T (p.Asp33051Val)
c.99071A>T (p.Asp33024Val)
c.80834A>T (p.Asp26945Val)
c.70688A>T (p.Asp23563Val)
2g.178527049T>CCA349398215TTN,TTN-AS1c.100235A>G (p.Asp33412Gly)
c.81320A>G (p.Asp27107Gly)
c.81119A>G (p.Asp27040Gly)
c.80744A>G (p.Asp26915Gly)
c.107939A>G (p.Asp35980Gly)
c.103016A>G (p.Asp34339Gly)
n.446+3413T>C
n.219+3413T>C
c.107036A>G (p.Asp35679Gly)
c.80930A>G (p.Asp26977Gly)
c.80789A>G (p.Asp26930Gly)
c.106832A>G (p.Asp35611Gly)
c.102230A>G (p.Asp34077Gly)
c.102227A>G (p.Asp34076Gly)
c.99269A>G (p.Asp33090Gly)
c.80885A>G (p.Asp26962Gly)
c.102380A>G (p.Asp34127Gly)
c.102377A>G (p.Asp34126Gly)
c.101810A>G (p.Asp33937Gly)
c.99152A>G (p.Asp33051Gly)
c.99071A>G (p.Asp33024Gly)
c.80834A>G (p.Asp26945Gly)
c.70688A>G (p.Asp23563Gly)
2g.178527049T>GCA349398216TTN,TTN-AS1c.100235A>C (p.Asp33412Ala)
c.81320A>C (p.Asp27107Ala)
c.81119A>C (p.Asp27040Ala)
c.80744A>C (p.Asp26915Ala)
c.107939A>C (p.Asp35980Ala)
c.103016A>C (p.Asp34339Ala)
n.446+3413T>G
n.219+3413T>G
c.107036A>C (p.Asp35679Ala)
c.80930A>C (p.Asp26977Ala)
c.80789A>C (p.Asp26930Ala)
c.106832A>C (p.Asp35611Ala)
c.102230A>C (p.Asp34077Ala)
c.102227A>C (p.Asp34076Ala)
c.99269A>C (p.Asp33090Ala)
c.80885A>C (p.Asp26962Ala)
c.102380A>C (p.Asp34127Ala)
c.102377A>C (p.Asp34126Ala)
c.101810A>C (p.Asp33937Ala)
c.99152A>C (p.Asp33051Ala)
c.99071A>C (p.Asp33024Ala)
c.80834A>C (p.Asp26945Ala)
c.70688A>C (p.Asp23563Ala)
2g.178527050C>ACA349398218TTN,TTN-AS1c.100234G>T (p.Asp33412Tyr)
c.81319G>T (p.Asp27107Tyr)
c.81118G>T (p.Asp27040Tyr)
c.80743G>T (p.Asp26915Tyr)
c.107938G>T (p.Asp35980Tyr)
c.103015G>T (p.Asp34339Tyr)
n.446+3414C>A
n.219+3414C>A
c.107035G>T (p.Asp35679Tyr)
c.80929G>T (p.Asp26977Tyr)
c.80788G>T (p.Asp26930Tyr)
c.106831G>T (p.Asp35611Tyr)
c.102229G>T (p.Asp34077Tyr)
c.102226G>T (p.Asp34076Tyr)
c.99268G>T (p.Asp33090Tyr)
c.80884G>T (p.Asp26962Tyr)
c.102379G>T (p.Asp34127Tyr)
c.102376G>T (p.Asp34126Tyr)
c.101809G>T (p.Asp33937Tyr)
c.99151G>T (p.Asp33051Tyr)
c.99070G>T (p.Asp33024Tyr)
c.80833G>T (p.Asp26945Tyr)
c.70687G>T (p.Asp23563Tyr)
2g.178527050C>GCA349398219TTN,TTN-AS1c.100234G>C (p.Asp33412His)
c.81319G>C (p.Asp27107His)
c.81118G>C (p.Asp27040His)
c.80743G>C (p.Asp26915His)
c.107938G>C (p.Asp35980His)
c.103015G>C (p.Asp34339His)
n.446+3414C>G
n.219+3414C>G
c.107035G>C (p.Asp35679His)
c.80929G>C (p.Asp26977His)
c.80788G>C (p.Asp26930His)
c.106831G>C (p.Asp35611His)
c.102229G>C (p.Asp34077His)
c.102226G>C (p.Asp34076His)
c.99268G>C (p.Asp33090His)
c.80884G>C (p.Asp26962His)
c.102379G>C (p.Asp34127His)
c.102376G>C (p.Asp34126His)
c.101809G>C (p.Asp33937His)
c.99151G>C (p.Asp33051His)
c.99070G>C (p.Asp33024His)
c.80833G>C (p.Asp26945His)
c.70687G>C (p.Asp23563His)
 gnomAD v4
2g.178527050C>TCA349398221TTN,TTN-AS1c.100234G>A (p.Asp33412Asn)
c.81319G>A (p.Asp27107Asn)
c.81118G>A (p.Asp27040Asn)
c.80743G>A (p.Asp26915Asn)
c.107938G>A (p.Asp35980Asn)
c.103015G>A (p.Asp34339Asn)
n.446+3414C>T
n.219+3414C>T
c.107035G>A (p.Asp35679Asn)
c.80929G>A (p.Asp26977Asn)
c.80788G>A (p.Asp26930Asn)
c.106831G>A (p.Asp35611Asn)
c.102229G>A (p.Asp34077Asn)
c.102226G>A (p.Asp34076Asn)
c.99268G>A (p.Asp33090Asn)
c.80884G>A (p.Asp26962Asn)
c.102379G>A (p.Asp34127Asn)
c.102376G>A (p.Asp34126Asn)
c.101809G>A (p.Asp33937Asn)
c.99151G>A (p.Asp33051Asn)
c.99070G>A (p.Asp33024Asn)
c.80833G>A (p.Asp26945Asn)
c.70687G>A (p.Asp23563Asn)
2g.178527051A>CCA430091480TTN,TTN-AS1c.100233T>G (p.Ser33411=)
c.81318T>G (p.Ser27106=)
c.81117T>G (p.Ser27039=)
c.80742T>G (p.Ser26914=)
c.107937T>G (p.Ser35979=)
c.103014T>G (p.Ser34338=)
n.446+3415A>C
n.219+3415A>C
c.107034T>G (p.Ser35678=)
c.80928T>G (p.Ser26976=)
c.80787T>G (p.Ser26929=)
c.106830T>G (p.Ser35610=)
c.102228T>G (p.Ser34076=)
c.102225T>G (p.Ser34075=)
c.99267T>G (p.Ser33089=)
c.80883T>G (p.Ser26961=)
c.102378T>G (p.Ser34126=)
c.102375T>G (p.Ser34125=)
c.101808T>G (p.Ser33936=)
c.99150T>G (p.Ser33050=)
c.99069T>G (p.Ser33023=)
c.80832T>G (p.Ser26944=)
c.70686T>G (p.Ser23562=)
2g.178527051A>GCA430091482TTN,TTN-AS1c.100233T>C (p.Ser33411=)
c.81318T>C (p.Ser27106=)
c.81117T>C (p.Ser27039=)
c.80742T>C (p.Ser26914=)
c.107937T>C (p.Ser35979=)
c.103014T>C (p.Ser34338=)
n.446+3415A>G
n.219+3415A>G
c.107034T>C (p.Ser35678=)
c.80928T>C (p.Ser26976=)
c.80787T>C (p.Ser26929=)
c.106830T>C (p.Ser35610=)
c.102228T>C (p.Ser34076=)
c.102225T>C (p.Ser34075=)
c.99267T>C (p.Ser33089=)
c.80883T>C (p.Ser26961=)
c.102378T>C (p.Ser34126=)
c.102375T>C (p.Ser34125=)
c.101808T>C (p.Ser33936=)
c.99150T>C (p.Ser33050=)
c.99069T>C (p.Ser33023=)
c.80832T>C (p.Ser26944=)
c.70686T>C (p.Ser23562=)
2g.178527051A>TCA430091484TTN,TTN-AS1c.100233T>A (p.Ser33411=)
c.81318T>A (p.Ser27106=)
c.81117T>A (p.Ser27039=)
c.80742T>A (p.Ser26914=)
c.107937T>A (p.Ser35979=)
c.103014T>A (p.Ser34338=)
n.446+3415A>T
n.219+3415A>T
c.107034T>A (p.Ser35678=)
c.80928T>A (p.Ser26976=)
c.80787T>A (p.Ser26929=)
c.106830T>A (p.Ser35610=)
c.102228T>A (p.Ser34076=)
c.102225T>A (p.Ser34075=)
c.99267T>A (p.Ser33089=)
c.80883T>A (p.Ser26961=)
c.102378T>A (p.Ser34126=)
c.102375T>A (p.Ser34125=)
c.101808T>A (p.Ser33936=)
c.99150T>A (p.Ser33050=)
c.99069T>A (p.Ser33023=)
c.80832T>A (p.Ser26944=)
c.70686T>A (p.Ser23562=)
2g.178527052G>ACA349398224TTN,TTN-AS1c.100232C>T (p.Ser33411Phe)
c.81317C>T (p.Ser27106Phe)
c.81116C>T (p.Ser27039Phe)
c.80741C>T (p.Ser26914Phe)
c.107936C>T (p.Ser35979Phe)
c.103013C>T (p.Ser34338Phe)
n.446+3416G>A
n.219+3416G>A
c.107033C>T (p.Ser35678Phe)
c.80927C>T (p.Ser26976Phe)
c.80786C>T (p.Ser26929Phe)
c.106829C>T (p.Ser35610Phe)
c.102227C>T (p.Ser34076Phe)
c.102224C>T (p.Ser34075Phe)
c.99266C>T (p.Ser33089Phe)
c.80882C>T (p.Ser26961Phe)
c.102377C>T (p.Ser34126Phe)
c.102374C>T (p.Ser34125Phe)
c.101807C>T (p.Ser33936Phe)
c.99149C>T (p.Ser33050Phe)
c.99068C>T (p.Ser33023Phe)
c.80831C>T (p.Ser26944Phe)
c.70685C>T (p.Ser23562Phe)
2g.178527052G>CCA349398225TTN,TTN-AS1c.100232C>G (p.Ser33411Cys)
c.81317C>G (p.Ser27106Cys)
c.81116C>G (p.Ser27039Cys)
c.80741C>G (p.Ser26914Cys)
c.107936C>G (p.Ser35979Cys)
c.103013C>G (p.Ser34338Cys)
n.446+3416G>C
n.219+3416G>C
c.107033C>G (p.Ser35678Cys)
c.80927C>G (p.Ser26976Cys)
c.80786C>G (p.Ser26929Cys)
c.106829C>G (p.Ser35610Cys)
c.102227C>G (p.Ser34076Cys)
c.102224C>G (p.Ser34075Cys)
c.99266C>G (p.Ser33089Cys)
c.80882C>G (p.Ser26961Cys)
c.102377C>G (p.Ser34126Cys)
c.102374C>G (p.Ser34125Cys)
c.101807C>G (p.Ser33936Cys)
c.99149C>G (p.Ser33050Cys)
c.99068C>G (p.Ser33023Cys)
c.80831C>G (p.Ser26944Cys)
c.70685C>G (p.Ser23562Cys)
2g.178527052G>TCA349398226TTN,TTN-AS1c.100232C>A (p.Ser33411Tyr)
c.81317C>A (p.Ser27106Tyr)
c.81116C>A (p.Ser27039Tyr)
c.80741C>A (p.Ser26914Tyr)
c.107936C>A (p.Ser35979Tyr)
c.103013C>A (p.Ser34338Tyr)
n.446+3416G>T
n.219+3416G>T
c.107033C>A (p.Ser35678Tyr)
c.80927C>A (p.Ser26976Tyr)
c.80786C>A (p.Ser26929Tyr)
c.106829C>A (p.Ser35610Tyr)
c.102227C>A (p.Ser34076Tyr)
c.102224C>A (p.Ser34075Tyr)
c.99266C>A (p.Ser33089Tyr)
c.80882C>A (p.Ser26961Tyr)
c.102377C>A (p.Ser34126Tyr)
c.102374C>A (p.Ser34125Tyr)
c.101807C>A (p.Ser33936Tyr)
c.99149C>A (p.Ser33050Tyr)
c.99068C>A (p.Ser33023Tyr)
c.80831C>A (p.Ser26944Tyr)
c.70685C>A (p.Ser23562Tyr)
 gnomAD v4
2g.178527053A>CCA349398228TTN,TTN-AS1c.100231T>G (p.Ser33411Ala)
c.81316T>G (p.Ser27106Ala)
c.81115T>G (p.Ser27039Ala)
c.80740T>G (p.Ser26914Ala)
c.107935T>G (p.Ser35979Ala)
c.103012T>G (p.Ser34338Ala)
n.446+3417A>C
n.219+3417A>C
c.107032T>G (p.Ser35678Ala)
c.80926T>G (p.Ser26976Ala)
c.80785T>G (p.Ser26929Ala)
c.106828T>G (p.Ser35610Ala)
c.102226T>G (p.Ser34076Ala)
c.102223T>G (p.Ser34075Ala)
c.99265T>G (p.Ser33089Ala)
c.80881T>G (p.Ser26961Ala)
c.102376T>G (p.Ser34126Ala)
c.102373T>G (p.Ser34125Ala)
c.101806T>G (p.Ser33936Ala)
c.99148T>G (p.Ser33050Ala)
c.99067T>G (p.Ser33023Ala)
c.80830T>G (p.Ser26944Ala)
c.70684T>G (p.Ser23562Ala)
2g.178527053A>GCA349398229TTN,TTN-AS1c.100231T>C (p.Ser33411Pro)
c.81316T>C (p.Ser27106Pro)
c.81115T>C (p.Ser27039Pro)
c.80740T>C (p.Ser26914Pro)
c.107935T>C (p.Ser35979Pro)
c.103012T>C (p.Ser34338Pro)
n.446+3417A>G
n.219+3417A>G
c.107032T>C (p.Ser35678Pro)
c.80926T>C (p.Ser26976Pro)
c.80785T>C (p.Ser26929Pro)
c.106828T>C (p.Ser35610Pro)
c.102226T>C (p.Ser34076Pro)
c.102223T>C (p.Ser34075Pro)
c.99265T>C (p.Ser33089Pro)
c.80881T>C (p.Ser26961Pro)
c.102376T>C (p.Ser34126Pro)
c.102373T>C (p.Ser34125Pro)
c.101806T>C (p.Ser33936Pro)
c.99148T>C (p.Ser33050Pro)
c.99067T>C (p.Ser33023Pro)
c.80830T>C (p.Ser26944Pro)
c.70684T>C (p.Ser23562Pro)
 gnomAD v4
2g.178527053A>TCA349398230TTN,TTN-AS1c.100231T>A (p.Ser33411Thr)
c.81316T>A (p.Ser27106Thr)
c.81115T>A (p.Ser27039Thr)
c.80740T>A (p.Ser26914Thr)
c.107935T>A (p.Ser35979Thr)
c.103012T>A (p.Ser34338Thr)
n.446+3417A>T
n.219+3417A>T
c.107032T>A (p.Ser35678Thr)
c.80926T>A (p.Ser26976Thr)
c.80785T>A (p.Ser26929Thr)
c.106828T>A (p.Ser35610Thr)
c.102226T>A (p.Ser34076Thr)
c.102223T>A (p.Ser34075Thr)
c.99265T>A (p.Ser33089Thr)
c.80881T>A (p.Ser26961Thr)
c.102376T>A (p.Ser34126Thr)
c.102373T>A (p.Ser34125Thr)
c.101806T>A (p.Ser33936Thr)
c.99148T>A (p.Ser33050Thr)
c.99067T>A (p.Ser33023Thr)
c.80830T>A (p.Ser26944Thr)
c.70684T>A (p.Ser23562Thr)
2g.178527054T>ACA430091486TTN,TTN-AS1c.100230A>T (p.Gly33410=)
c.81315A>T (p.Gly27105=)
c.81114A>T (p.Gly27038=)
c.80739A>T (p.Gly26913=)
c.107934A>T (p.Gly35978=)
c.103011A>T (p.Gly34337=)
n.446+3418T>A
n.219+3418T>A
c.107031A>T (p.Gly35677=)
c.80925A>T (p.Gly26975=)
c.80784A>T (p.Gly26928=)
c.106827A>T (p.Gly35609=)
c.102225A>T (p.Gly34075=)
c.102222A>T (p.Gly34074=)
c.99264A>T (p.Gly33088=)
c.80880A>T (p.Gly26960=)
c.102375A>T (p.Gly34125=)
c.102372A>T (p.Gly34124=)
c.101805A>T (p.Gly33935=)
c.99147A>T (p.Gly33049=)
c.99066A>T (p.Gly33022=)
c.80829A>T (p.Gly26943=)
c.70683A>T (p.Gly23561=)
 gnomAD v4
2g.178527054T>CCA430091487TTN,TTN-AS1c.100230A>G (p.Gly33410=)
c.81315A>G (p.Gly27105=)
c.81114A>G (p.Gly27038=)
c.80739A>G (p.Gly26913=)
c.107934A>G (p.Gly35978=)
c.103011A>G (p.Gly34337=)
n.446+3418T>C
n.219+3418T>C
c.107031A>G (p.Gly35677=)
c.80925A>G (p.Gly26975=)
c.80784A>G (p.Gly26928=)
c.106827A>G (p.Gly35609=)
c.102225A>G (p.Gly34075=)
c.102222A>G (p.Gly34074=)
c.99264A>G (p.Gly33088=)
c.80880A>G (p.Gly26960=)
c.102375A>G (p.Gly34125=)
c.102372A>G (p.Gly34124=)
c.101805A>G (p.Gly33935=)
c.99147A>G (p.Gly33049=)
c.99066A>G (p.Gly33022=)
c.80829A>G (p.Gly26943=)
c.70683A>G (p.Gly23561=)
2g.178527054T>GCA430091489TTN,TTN-AS1c.100230A>C (p.Gly33410=)
c.81315A>C (p.Gly27105=)
c.81114A>C (p.Gly27038=)
c.80739A>C (p.Gly26913=)
c.107934A>C (p.Gly35978=)
c.103011A>C (p.Gly34337=)
n.446+3418T>G
n.219+3418T>G
c.107031A>C (p.Gly35677=)
c.80925A>C (p.Gly26975=)
c.80784A>C (p.Gly26928=)
c.106827A>C (p.Gly35609=)
c.102225A>C (p.Gly34075=)
c.102222A>C (p.Gly34074=)
c.99264A>C (p.Gly33088=)
c.80880A>C (p.Gly26960=)
c.102375A>C (p.Gly34125=)
c.102372A>C (p.Gly34124=)
c.101805A>C (p.Gly33935=)
c.99147A>C (p.Gly33049=)
c.99066A>C (p.Gly33022=)
c.80829A>C (p.Gly26943=)
c.70683A>C (p.Gly23561=)
2g.178527055C>ACA349398233TTN,TTN-AS1c.100229G>T (p.Gly33410Val)
c.81314G>T (p.Gly27105Val)
c.81113G>T (p.Gly27038Val)
c.80738G>T (p.Gly26913Val)
c.107933G>T (p.Gly35978Val)
c.103010G>T (p.Gly34337Val)
n.446+3419C>A
n.219+3419C>A
c.107030G>T (p.Gly35677Val)
c.80924G>T (p.Gly26975Val)
c.80783G>T (p.Gly26928Val)
c.106826G>T (p.Gly35609Val)
c.102224G>T (p.Gly34075Val)
c.102221G>T (p.Gly34074Val)
c.99263G>T (p.Gly33088Val)
c.80879G>T (p.Gly26960Val)
c.102374G>T (p.Gly34125Val)
c.102371G>T (p.Gly34124Val)
c.101804G>T (p.Gly33935Val)
c.99146G>T (p.Gly33049Val)
c.99065G>T (p.Gly33022Val)
c.80828G>T (p.Gly26943Val)
c.70682G>T (p.Gly23561Val)
 gnomAD v4
2g.178527055C>GCA349398231TTN,TTN-AS1c.100229G>C (p.Gly33410Ala)
c.81314G>C (p.Gly27105Ala)
c.81113G>C (p.Gly27038Ala)
c.80738G>C (p.Gly26913Ala)
c.107933G>C (p.Gly35978Ala)
c.103010G>C (p.Gly34337Ala)
n.446+3419C>G
n.219+3419C>G
c.107030G>C (p.Gly35677Ala)
c.80924G>C (p.Gly26975Ala)
c.80783G>C (p.Gly26928Ala)
c.106826G>C (p.Gly35609Ala)
c.102224G>C (p.Gly34075Ala)
c.102221G>C (p.Gly34074Ala)
c.99263G>C (p.Gly33088Ala)
c.80879G>C (p.Gly26960Ala)
c.102374G>C (p.Gly34125Ala)
c.102371G>C (p.Gly34124Ala)
c.101804G>C (p.Gly33935Ala)
c.99146G>C (p.Gly33049Ala)
c.99065G>C (p.Gly33022Ala)
c.80828G>C (p.Gly26943Ala)
c.70682G>C (p.Gly23561Ala)
2g.178527055C>TCA349398232TTN,TTN-AS1c.100229G>A (p.Gly33410Glu)
c.81314G>A (p.Gly27105Glu)
c.81113G>A (p.Gly27038Glu)
c.80738G>A (p.Gly26913Glu)
c.107933G>A (p.Gly35978Glu)
c.103010G>A (p.Gly34337Glu)
n.446+3419C>T
n.219+3419C>T
c.107030G>A (p.Gly35677Glu)
c.80924G>A (p.Gly26975Glu)
c.80783G>A (p.Gly26928Glu)
c.106826G>A (p.Gly35609Glu)
c.102224G>A (p.Gly34075Glu)
c.102221G>A (p.Gly34074Glu)
c.99263G>A (p.Gly33088Glu)
c.80879G>A (p.Gly26960Glu)
c.102374G>A (p.Gly34125Glu)
c.102371G>A (p.Gly34124Glu)
c.101804G>A (p.Gly33935Glu)
c.99146G>A (p.Gly33049Glu)
c.99065G>A (p.Gly33022Glu)
c.80828G>A (p.Gly26943Glu)
c.70682G>A (p.Gly23561Glu)
 ClinVar dbSNP
2g.178527056C>ACA349398234TTN,TTN-AS1c.100228G>T (p.Gly33410Ter)
c.81313G>T (p.Gly27105Ter)
c.81112G>T (p.Gly27038Ter)
c.80737G>T (p.Gly26913Ter)
c.107932G>T (p.Gly35978Ter)
c.103009G>T (p.Gly34337Ter)
n.446+3420C>A
n.219+3420C>A
c.107029G>T (p.Gly35677Ter)
c.80923G>T (p.Gly26975Ter)
c.80782G>T (p.Gly26928Ter)
c.106825G>T (p.Gly35609Ter)
c.102223G>T (p.Gly34075Ter)
c.102220G>T (p.Gly34074Ter)
c.99262G>T (p.Gly33088Ter)
c.80878G>T (p.Gly26960Ter)
c.102373G>T (p.Gly34125Ter)
c.102370G>T (p.Gly34124Ter)
c.101803G>T (p.Gly33935Ter)
c.99145G>T (p.Gly33049Ter)
c.99064G>T (p.Gly33022Ter)
c.80827G>T (p.Gly26943Ter)
c.70681G>T (p.Gly23561Ter)
 dbSNP
2g.178527056C=CA1310514281TTN,TTN-AS1c.100228G= (p.Gly33410=)
c.81313G= (p.Gly27105=)
c.81112G= (p.Gly27038=)
c.80737G= (p.Gly26913=)
c.107932G= (p.Gly35978=)
c.103009G= (p.Gly34337=)
n.446+3420C=
n.219+3420C=
c.107029G= (p.Gly35677=)
c.80923G= (p.Gly26975=)
c.80782G= (p.Gly26928=)
c.106825G= (p.Gly35609=)
c.102223G= (p.Gly34075=)
c.102220G= (p.Gly34074=)
c.99262G= (p.Gly33088=)
c.80878G= (p.Gly26960=)
c.102373G= (p.Gly34125=)
c.102370G= (p.Gly34124=)
c.101803G= (p.Gly33935=)
c.99145G= (p.Gly33049=)
c.99064G= (p.Gly33022=)
c.80827G= (p.Gly26943=)
c.70681G= (p.Gly23561=)
2g.178527056C>GCA349398235TTN,TTN-AS1c.100228G>C (p.Gly33410Arg)
c.81313G>C (p.Gly27105Arg)
c.81112G>C (p.Gly27038Arg)
c.80737G>C (p.Gly26913Arg)
c.107932G>C (p.Gly35978Arg)
c.103009G>C (p.Gly34337Arg)
n.446+3420C>G
n.219+3420C>G
c.107029G>C (p.Gly35677Arg)
c.80923G>C (p.Gly26975Arg)
c.80782G>C (p.Gly26928Arg)
c.106825G>C (p.Gly35609Arg)
c.102223G>C (p.Gly34075Arg)
c.102220G>C (p.Gly34074Arg)
c.99262G>C (p.Gly33088Arg)
c.80878G>C (p.Gly26960Arg)
c.102373G>C (p.Gly34125Arg)
c.102370G>C (p.Gly34124Arg)
c.101803G>C (p.Gly33935Arg)
c.99145G>C (p.Gly33049Arg)
c.99064G>C (p.Gly33022Arg)
c.80827G>C (p.Gly26943Arg)
c.70681G>C (p.Gly23561Arg)
2g.178527056C>TCA349398236TTN,TTN-AS1c.100228G>A (p.Gly33410Arg)
c.81313G>A (p.Gly27105Arg)
c.81112G>A (p.Gly27038Arg)
c.80737G>A (p.Gly26913Arg)
c.107932G>A (p.Gly35978Arg)
c.103009G>A (p.Gly34337Arg)
n.446+3420C>T
n.219+3420C>T
c.107029G>A (p.Gly35677Arg)
c.80923G>A (p.Gly26975Arg)
c.80782G>A (p.Gly26928Arg)
c.106825G>A (p.Gly35609Arg)
c.102223G>A (p.Gly34075Arg)
c.102220G>A (p.Gly34074Arg)
c.99262G>A (p.Gly33088Arg)
c.80878G>A (p.Gly26960Arg)
c.102373G>A (p.Gly34125Arg)
c.102370G>A (p.Gly34124Arg)
c.101803G>A (p.Gly33935Arg)
c.99145G>A (p.Gly33049Arg)
c.99064G>A (p.Gly33022Arg)
c.80827G>A (p.Gly26943Arg)
c.70681G>A (p.Gly23561Arg)
2g.178527057A>CCA349398243TTN,TTN-AS1c.100227T>G (p.Phe33409Leu)
c.81312T>G (p.Phe27104Leu)
c.81111T>G (p.Phe27037Leu)
c.80736T>G (p.Phe26912Leu)
c.107931T>G (p.Phe35977Leu)
c.103008T>G (p.Phe34336Leu)
n.446+3421A>C
n.219+3421A>C
c.107028T>G (p.Phe35676Leu)
c.80922T>G (p.Phe26974Leu)
c.80781T>G (p.Phe26927Leu)
c.106824T>G (p.Phe35608Leu)
c.102222T>G (p.Phe34074Leu)
c.102219T>G (p.Phe34073Leu)
c.99261T>G (p.Phe33087Leu)
c.80877T>G (p.Phe26959Leu)
c.102372T>G (p.Phe34124Leu)
c.102369T>G (p.Phe34123Leu)
c.101802T>G (p.Phe33934Leu)
c.99144T>G (p.Phe33048Leu)
c.99063T>G (p.Phe33021Leu)
c.80826T>G (p.Phe26942Leu)
c.70680T>G (p.Phe23560Leu)
2g.178527057A>GCA430091492TTN,TTN-AS1c.100227T>C (p.Phe33409=)
c.81312T>C (p.Phe27104=)
c.81111T>C (p.Phe27037=)
c.80736T>C (p.Phe26912=)
c.107931T>C (p.Phe35977=)
c.103008T>C (p.Phe34336=)
n.446+3421A>G
n.219+3421A>G
c.107028T>C (p.Phe35676=)
c.80922T>C (p.Phe26974=)
c.80781T>C (p.Phe26927=)
c.106824T>C (p.Phe35608=)
c.102222T>C (p.Phe34074=)
c.102219T>C (p.Phe34073=)
c.99261T>C (p.Phe33087=)
c.80877T>C (p.Phe26959=)
c.102372T>C (p.Phe34124=)
c.102369T>C (p.Phe34123=)
c.101802T>C (p.Phe33934=)
c.99144T>C (p.Phe33048=)
c.99063T>C (p.Phe33021=)
c.80826T>C (p.Phe26942=)
c.70680T>C (p.Phe23560=)
2g.178527057A>TCA349398245TTN,TTN-AS1c.100227T>A (p.Phe33409Leu)
c.81312T>A (p.Phe27104Leu)
c.81111T>A (p.Phe27037Leu)
c.80736T>A (p.Phe26912Leu)
c.107931T>A (p.Phe35977Leu)
c.103008T>A (p.Phe34336Leu)
n.446+3421A>T
n.219+3421A>T
c.107028T>A (p.Phe35676Leu)
c.80922T>A (p.Phe26974Leu)
c.80781T>A (p.Phe26927Leu)
c.106824T>A (p.Phe35608Leu)
c.102222T>A (p.Phe34074Leu)
c.102219T>A (p.Phe34073Leu)
c.99261T>A (p.Phe33087Leu)
c.80877T>A (p.Phe26959Leu)
c.102372T>A (p.Phe34124Leu)
c.102369T>A (p.Phe34123Leu)
c.101802T>A (p.Phe33934Leu)
c.99144T>A (p.Phe33048Leu)
c.99063T>A (p.Phe33021Leu)
c.80826T>A (p.Phe26942Leu)
c.70680T>A (p.Phe23560Leu)
2g.178527058A>CCA349398250TTN,TTN-AS1c.100226T>G (p.Phe33409Cys)
c.81311T>G (p.Phe27104Cys)
c.81110T>G (p.Phe27037Cys)
c.80735T>G (p.Phe26912Cys)
c.107930T>G (p.Phe35977Cys)
c.103007T>G (p.Phe34336Cys)
n.446+3422A>C
n.219+3422A>C
c.107027T>G (p.Phe35676Cys)
c.80921T>G (p.Phe26974Cys)
c.80780T>G (p.Phe26927Cys)
c.106823T>G (p.Phe35608Cys)
c.102221T>G (p.Phe34074Cys)
c.102218T>G (p.Phe34073Cys)
c.99260T>G (p.Phe33087Cys)
c.80876T>G (p.Phe26959Cys)
c.102371T>G (p.Phe34124Cys)
c.102368T>G (p.Phe34123Cys)
c.101801T>G (p.Phe33934Cys)
c.99143T>G (p.Phe33048Cys)
c.99062T>G (p.Phe33021Cys)
c.80825T>G (p.Phe26942Cys)
c.70679T>G (p.Phe23560Cys)
2g.178527058A>GCA349398252TTN,TTN-AS1c.100226T>C (p.Phe33409Ser)
c.81311T>C (p.Phe27104Ser)
c.81110T>C (p.Phe27037Ser)
c.80735T>C (p.Phe26912Ser)
c.107930T>C (p.Phe35977Ser)
c.103007T>C (p.Phe34336Ser)
n.446+3422A>G
n.219+3422A>G
c.107027T>C (p.Phe35676Ser)
c.80921T>C (p.Phe26974Ser)
c.80780T>C (p.Phe26927Ser)
c.106823T>C (p.Phe35608Ser)
c.102221T>C (p.Phe34074Ser)
c.102218T>C (p.Phe34073Ser)
c.99260T>C (p.Phe33087Ser)
c.80876T>C (p.Phe26959Ser)
c.102371T>C (p.Phe34124Ser)
c.102368T>C (p.Phe34123Ser)
c.101801T>C (p.Phe33934Ser)
c.99143T>C (p.Phe33048Ser)
c.99062T>C (p.Phe33021Ser)
c.80825T>C (p.Phe26942Ser)
c.70679T>C (p.Phe23560Ser)
2g.178527058A>TCA349398256TTN,TTN-AS1c.100226T>A (p.Phe33409Tyr)
c.81311T>A (p.Phe27104Tyr)
c.81110T>A (p.Phe27037Tyr)
c.80735T>A (p.Phe26912Tyr)
c.107930T>A (p.Phe35977Tyr)
c.103007T>A (p.Phe34336Tyr)
n.446+3422A>T
n.219+3422A>T
c.107027T>A (p.Phe35676Tyr)
c.80921T>A (p.Phe26974Tyr)
c.80780T>A (p.Phe26927Tyr)
c.106823T>A (p.Phe35608Tyr)
c.102221T>A (p.Phe34074Tyr)
c.102218T>A (p.Phe34073Tyr)
c.99260T>A (p.Phe33087Tyr)
c.80876T>A (p.Phe26959Tyr)
c.102371T>A (p.Phe34124Tyr)
c.102368T>A (p.Phe34123Tyr)
c.101801T>A (p.Phe33934Tyr)
c.99143T>A (p.Phe33048Tyr)
c.99062T>A (p.Phe33021Tyr)
c.80825T>A (p.Phe26942Tyr)
c.70679T>A (p.Phe23560Tyr)
2g.178527059A>CCA349398260TTN,TTN-AS1c.100225T>G (p.Phe33409Val)
c.81310T>G (p.Phe27104Val)
c.81109T>G (p.Phe27037Val)
c.80734T>G (p.Phe26912Val)
c.107929T>G (p.Phe35977Val)
c.103006T>G (p.Phe34336Val)
n.446+3423A>C
n.219+3423A>C
c.107026T>G (p.Phe35676Val)
c.80920T>G (p.Phe26974Val)
c.80779T>G (p.Phe26927Val)
c.106822T>G (p.Phe35608Val)
c.102220T>G (p.Phe34074Val)
c.102217T>G (p.Phe34073Val)
c.99259T>G (p.Phe33087Val)
c.80875T>G (p.Phe26959Val)
c.102370T>G (p.Phe34124Val)
c.102367T>G (p.Phe34123Val)
c.101800T>G (p.Phe33934Val)
c.99142T>G (p.Phe33048Val)
c.99061T>G (p.Phe33021Val)
c.80824T>G (p.Phe26942Val)
c.70678T>G (p.Phe23560Val)
2g.178527059A>GCA349398261TTN,TTN-AS1c.100225T>C (p.Phe33409Leu)
c.81310T>C (p.Phe27104Leu)
c.81109T>C (p.Phe27037Leu)
c.80734T>C (p.Phe26912Leu)
c.107929T>C (p.Phe35977Leu)
c.103006T>C (p.Phe34336Leu)
n.446+3423A>G
n.219+3423A>G
c.107026T>C (p.Phe35676Leu)
c.80920T>C (p.Phe26974Leu)
c.80779T>C (p.Phe26927Leu)
c.106822T>C (p.Phe35608Leu)
c.102220T>C (p.Phe34074Leu)
c.102217T>C (p.Phe34073Leu)
c.99259T>C (p.Phe33087Leu)
c.80875T>C (p.Phe26959Leu)
c.102370T>C (p.Phe34124Leu)
c.102367T>C (p.Phe34123Leu)
c.101800T>C (p.Phe33934Leu)
c.99142T>C (p.Phe33048Leu)
c.99061T>C (p.Phe33021Leu)
c.80824T>C (p.Phe26942Leu)
c.70678T>C (p.Phe23560Leu)
2g.178527059A>TCA349398263TTN,TTN-AS1c.100225T>A (p.Phe33409Ile)
c.81310T>A (p.Phe27104Ile)
c.81109T>A (p.Phe27037Ile)
c.80734T>A (p.Phe26912Ile)
c.107929T>A (p.Phe35977Ile)
c.103006T>A (p.Phe34336Ile)
n.446+3423A>T
n.219+3423A>T
c.107026T>A (p.Phe35676Ile)
c.80920T>A (p.Phe26974Ile)
c.80779T>A (p.Phe26927Ile)
c.106822T>A (p.Phe35608Ile)
c.102220T>A (p.Phe34074Ile)
c.102217T>A (p.Phe34073Ile)
c.99259T>A (p.Phe33087Ile)
c.80875T>A (p.Phe26959Ile)
c.102370T>A (p.Phe34124Ile)
c.102367T>A (p.Phe34123Ile)
c.101800T>A (p.Phe33934Ile)
c.99142T>A (p.Phe33048Ile)
c.99061T>A (p.Phe33021Ile)
c.80824T>A (p.Phe26942Ile)
c.70678T>A (p.Phe23560Ile)
2g.178527060T>ACA349398266TTN,TTN-AS1c.100224A>T (p.Glu33408Asp)
c.81309A>T (p.Glu27103Asp)
c.81108A>T (p.Glu27036Asp)
c.80733A>T (p.Glu26911Asp)
c.107928A>T (p.Glu35976Asp)
c.103005A>T (p.Glu34335Asp)
n.446+3424T>A
n.219+3424T>A
c.107025A>T (p.Glu35675Asp)
c.80919A>T (p.Glu26973Asp)
c.80778A>T (p.Glu26926Asp)
c.106821A>T (p.Glu35607Asp)
c.102219A>T (p.Glu34073Asp)
c.102216A>T (p.Glu34072Asp)
c.99258A>T (p.Glu33086Asp)
c.80874A>T (p.Glu26958Asp)
c.102369A>T (p.Glu34123Asp)
c.102366A>T (p.Glu34122Asp)
c.101799A>T (p.Glu33933Asp)
c.99141A>T (p.Glu33047Asp)
c.99060A>T (p.Glu33020Asp)
c.80823A>T (p.Glu26941Asp)
c.70677A>T (p.Glu23559Asp)
2g.178527060T>CCA430091498TTN,TTN-AS1c.100224A>G (p.Glu33408=)
c.81309A>G (p.Glu27103=)
c.81108A>G (p.Glu27036=)
c.80733A>G (p.Glu26911=)
c.107928A>G (p.Glu35976=)
c.103005A>G (p.Glu34335=)
n.446+3424T>C
n.219+3424T>C
c.107025A>G (p.Glu35675=)
c.80919A>G (p.Glu26973=)
c.80778A>G (p.Glu26926=)
c.106821A>G (p.Glu35607=)
c.102219A>G (p.Glu34073=)
c.102216A>G (p.Glu34072=)
c.99258A>G (p.Glu33086=)
c.80874A>G (p.Glu26958=)
c.102369A>G (p.Glu34123=)
c.102366A>G (p.Glu34122=)
c.101799A>G (p.Glu33933=)
c.99141A>G (p.Glu33047=)
c.99060A>G (p.Glu33020=)
c.80823A>G (p.Glu26941=)
c.70677A>G (p.Glu23559=)
2g.178527060T>GCA349398265TTN,TTN-AS1c.100224A>C (p.Glu33408Asp)
c.81309A>C (p.Glu27103Asp)
c.81108A>C (p.Glu27036Asp)
c.80733A>C (p.Glu26911Asp)
c.107928A>C (p.Glu35976Asp)
c.103005A>C (p.Glu34335Asp)
n.446+3424T>G
n.219+3424T>G
c.107025A>C (p.Glu35675Asp)
c.80919A>C (p.Glu26973Asp)
c.80778A>C (p.Glu26926Asp)
c.106821A>C (p.Glu35607Asp)
c.102219A>C (p.Glu34073Asp)
c.102216A>C (p.Glu34072Asp)
c.99258A>C (p.Glu33086Asp)
c.80874A>C (p.Glu26958Asp)
c.102369A>C (p.Glu34123Asp)
c.102366A>C (p.Glu34122Asp)
c.101799A>C (p.Glu33933Asp)
c.99141A>C (p.Glu33047Asp)
c.99060A>C (p.Glu33020Asp)
c.80823A>C (p.Glu26941Asp)
c.70677A>C (p.Glu23559Asp)
2g.178527061T>ACA349398270TTN,TTN-AS1c.100223A>T (p.Glu33408Val)
c.81308A>T (p.Glu27103Val)
c.81107A>T (p.Glu27036Val)
c.80732A>T (p.Glu26911Val)
c.107927A>T (p.Glu35976Val)
c.103004A>T (p.Glu34335Val)
n.446+3425T>A
n.219+3425T>A
c.107024A>T (p.Glu35675Val)
c.80918A>T (p.Glu26973Val)
c.80777A>T (p.Glu26926Val)
c.106820A>T (p.Glu35607Val)
c.102218A>T (p.Glu34073Val)
c.102215A>T (p.Glu34072Val)
c.99257A>T (p.Glu33086Val)
c.80873A>T (p.Glu26958Val)
c.102368A>T (p.Glu34123Val)
c.102365A>T (p.Glu34122Val)
c.101798A>T (p.Glu33933Val)
c.99140A>T (p.Glu33047Val)
c.99059A>T (p.Glu33020Val)
c.80822A>T (p.Glu26941Val)
c.70676A>T (p.Glu23559Val)
2g.178527061T>CCA349398272TTN,TTN-AS1c.100223A>G (p.Glu33408Gly)
c.81308A>G (p.Glu27103Gly)
c.81107A>G (p.Glu27036Gly)
c.80732A>G (p.Glu26911Gly)
c.107927A>G (p.Glu35976Gly)
c.103004A>G (p.Glu34335Gly)
n.446+3425T>C
n.219+3425T>C
c.107024A>G (p.Glu35675Gly)
c.80918A>G (p.Glu26973Gly)
c.80777A>G (p.Glu26926Gly)
c.106820A>G (p.Glu35607Gly)
c.102218A>G (p.Glu34073Gly)
c.102215A>G (p.Glu34072Gly)
c.99257A>G (p.Glu33086Gly)
c.80873A>G (p.Glu26958Gly)
c.102368A>G (p.Glu34123Gly)
c.102365A>G (p.Glu34122Gly)
c.101798A>G (p.Glu33933Gly)
c.99140A>G (p.Glu33047Gly)
c.99059A>G (p.Glu33020Gly)
c.80822A>G (p.Glu26941Gly)
c.70676A>G (p.Glu23559Gly)
2g.178527061T>GCA349398275TTN,TTN-AS1c.100223A>C (p.Glu33408Ala)
c.81308A>C (p.Glu27103Ala)
c.81107A>C (p.Glu27036Ala)
c.80732A>C (p.Glu26911Ala)
c.107927A>C (p.Glu35976Ala)
c.103004A>C (p.Glu34335Ala)
n.446+3425T>G
n.219+3425T>G
c.107024A>C (p.Glu35675Ala)
c.80918A>C (p.Glu26973Ala)
c.80777A>C (p.Glu26926Ala)
c.106820A>C (p.Glu35607Ala)
c.102218A>C (p.Glu34073Ala)
c.102215A>C (p.Glu34072Ala)
c.99257A>C (p.Glu33086Ala)
c.80873A>C (p.Glu26958Ala)
c.102368A>C (p.Glu34123Ala)
c.102365A>C (p.Glu34122Ala)
c.101798A>C (p.Glu33933Ala)
c.99140A>C (p.Glu33047Ala)
c.99059A>C (p.Glu33020Ala)
c.80822A>C (p.Glu26941Ala)
c.70676A>C (p.Glu23559Ala)
2g.178527062C>ACA349398276TTN,TTN-AS1c.100222G>T (p.Glu33408Ter)
c.81307G>T (p.Glu27103Ter)
c.81106G>T (p.Glu27036Ter)
c.80731G>T (p.Glu26911Ter)
c.107926G>T (p.Glu35976Ter)
c.103003G>T (p.Glu34335Ter)
n.446+3426C>A
n.219+3426C>A
c.107023G>T (p.Glu35675Ter)
c.80917G>T (p.Glu26973Ter)
c.80776G>T (p.Glu26926Ter)
c.106819G>T (p.Glu35607Ter)
c.102217G>T (p.Glu34073Ter)
c.102214G>T (p.Glu34072Ter)
c.99256G>T (p.Glu33086Ter)
c.80872G>T (p.Glu26958Ter)
c.102367G>T (p.Glu34123Ter)
c.102364G>T (p.Glu34122Ter)
c.101797G>T (p.Glu33933Ter)
c.99139G>T (p.Glu33047Ter)
c.99058G>T (p.Glu33020Ter)
c.80821G>T (p.Glu26941Ter)
c.70675G>T (p.Glu23559Ter)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.178527062C=CA1310514282TTN,TTN-AS1c.100222G= (p.Glu33408=)
c.81307G= (p.Glu27103=)
c.81106G= (p.Glu27036=)
c.80731G= (p.Glu26911=)
c.107926G= (p.Glu35976=)
c.103003G= (p.Glu34335=)
n.446+3426C=
n.219+3426C=
c.107023G= (p.Glu35675=)
c.80917G= (p.Glu26973=)
c.80776G= (p.Glu26926=)
c.106819G= (p.Glu35607=)
c.102217G= (p.Glu34073=)
c.102214G= (p.Glu34072=)
c.99256G= (p.Glu33086=)
c.80872G= (p.Glu26958=)
c.102367G= (p.Glu34123=)
c.102364G= (p.Glu34122=)
c.101797G= (p.Glu33933=)
c.99139G= (p.Glu33047=)
c.99058G= (p.Glu33020=)
c.80821G= (p.Glu26941=)
c.70675G= (p.Glu23559=)
2g.178527062C>GCA349398278TTN,TTN-AS1c.100222G>C (p.Glu33408Gln)
c.81307G>C (p.Glu27103Gln)
c.81106G>C (p.Glu27036Gln)
c.80731G>C (p.Glu26911Gln)
c.107926G>C (p.Glu35976Gln)
c.103003G>C (p.Glu34335Gln)
n.446+3426C>G
n.219+3426C>G
c.107023G>C (p.Glu35675Gln)
c.80917G>C (p.Glu26973Gln)
c.80776G>C (p.Glu26926Gln)
c.106819G>C (p.Glu35607Gln)
c.102217G>C (p.Glu34073Gln)
c.102214G>C (p.Glu34072Gln)
c.99256G>C (p.Glu33086Gln)
c.80872G>C (p.Glu26958Gln)
c.102367G>C (p.Glu34123Gln)
c.102364G>C (p.Glu34122Gln)
c.101797G>C (p.Glu33933Gln)
c.99139G>C (p.Glu33047Gln)
c.99058G>C (p.Glu33020Gln)
c.80821G>C (p.Glu26941Gln)
c.70675G>C (p.Glu23559Gln)
2g.178527062C>TCA349398280TTN,TTN-AS1c.100222G>A (p.Glu33408Lys)
c.81307G>A (p.Glu27103Lys)
c.81106G>A (p.Glu27036Lys)
c.80731G>A (p.Glu26911Lys)
c.107926G>A (p.Glu35976Lys)
c.103003G>A (p.Glu34335Lys)
n.446+3426C>T
n.219+3426C>T
c.107023G>A (p.Glu35675Lys)
c.80917G>A (p.Glu26973Lys)
c.80776G>A (p.Glu26926Lys)
c.106819G>A (p.Glu35607Lys)
c.102217G>A (p.Glu34073Lys)
c.102214G>A (p.Glu34072Lys)
c.99256G>A (p.Glu33086Lys)
c.80872G>A (p.Glu26958Lys)
c.102367G>A (p.Glu34123Lys)
c.102364G>A (p.Glu34122Lys)
c.101797G>A (p.Glu33933Lys)
c.99139G>A (p.Glu33047Lys)
c.99058G>A (p.Glu33020Lys)
c.80821G>A (p.Glu26941Lys)
c.70675G>A (p.Glu23559Lys)
2g.178527063A>CCA349398284TTN,TTN-AS1c.100221T>G (p.Asn33407Lys)
c.81306T>G (p.Asn27102Lys)
c.81105T>G (p.Asn27035Lys)
c.80730T>G (p.Asn26910Lys)
c.107925T>G (p.Asn35975Lys)
c.103002T>G (p.Asn34334Lys)
n.446+3427A>C
n.219+3427A>C
c.107022T>G (p.Asn35674Lys)
c.80916T>G (p.Asn26972Lys)
c.80775T>G (p.Asn26925Lys)
c.106818T>G (p.Asn35606Lys)
c.102216T>G (p.Asn34072Lys)
c.102213T>G (p.Asn34071Lys)
c.99255T>G (p.Asn33085Lys)
c.80871T>G (p.Asn26957Lys)
c.102366T>G (p.Asn34122Lys)
c.102363T>G (p.Asn34121Lys)
c.101796T>G (p.Asn33932Lys)
c.99138T>G (p.Asn33046Lys)
c.99057T>G (p.Asn33019Lys)
c.80820T>G (p.Asn26940Lys)
c.70674T>G (p.Asn23558Lys)
2g.178527063A>GCA430091506TTN,TTN-AS1c.100221T>C (p.Asn33407=)
c.81306T>C (p.Asn27102=)
c.81105T>C (p.Asn27035=)
c.80730T>C (p.Asn26910=)
c.107925T>C (p.Asn35975=)
c.103002T>C (p.Asn34334=)
n.446+3427A>G
n.219+3427A>G
c.107022T>C (p.Asn35674=)
c.80916T>C (p.Asn26972=)
c.80775T>C (p.Asn26925=)
c.106818T>C (p.Asn35606=)
c.102216T>C (p.Asn34072=)
c.102213T>C (p.Asn34071=)
c.99255T>C (p.Asn33085=)
c.80871T>C (p.Asn26957=)
c.102366T>C (p.Asn34122=)
c.102363T>C (p.Asn34121=)
c.101796T>C (p.Asn33932=)
c.99138T>C (p.Asn33046=)
c.99057T>C (p.Asn33019=)
c.80820T>C (p.Asn26940=)
c.70674T>C (p.Asn23558=)
 ClinVar dbSNP
2g.178527063A>TCA349398282TTN,TTN-AS1c.100221T>A (p.Asn33407Lys)
c.81306T>A (p.Asn27102Lys)
c.81105T>A (p.Asn27035Lys)
c.80730T>A (p.Asn26910Lys)
c.107925T>A (p.Asn35975Lys)
c.103002T>A (p.Asn34334Lys)
n.446+3427A>T
n.219+3427A>T
c.107022T>A (p.Asn35674Lys)
c.80916T>A (p.Asn26972Lys)
c.80775T>A (p.Asn26925Lys)
c.106818T>A (p.Asn35606Lys)
c.102216T>A (p.Asn34072Lys)
c.102213T>A (p.Asn34071Lys)
c.99255T>A (p.Asn33085Lys)
c.80871T>A (p.Asn26957Lys)
c.102366T>A (p.Asn34122Lys)
c.102363T>A (p.Asn34121Lys)
c.101796T>A (p.Asn33932Lys)
c.99138T>A (p.Asn33046Lys)
c.99057T>A (p.Asn33019Lys)
c.80820T>A (p.Asn26940Lys)
c.70674T>A (p.Asn23558Lys)
2g.178527064T>ACA349398287TTN,TTN-AS1c.100220A>T (p.Asn33407Ile)
c.81305A>T (p.Asn27102Ile)
c.81104A>T (p.Asn27035Ile)
c.80729A>T (p.Asn26910Ile)
c.107924A>T (p.Asn35975Ile)
c.103001A>T (p.Asn34334Ile)
n.446+3428T>A
n.219+3428T>A
c.107021A>T (p.Asn35674Ile)
c.80915A>T (p.Asn26972Ile)
c.80774A>T (p.Asn26925Ile)
c.106817A>T (p.Asn35606Ile)
c.102215A>T (p.Asn34072Ile)
c.102212A>T (p.Asn34071Ile)
c.99254A>T (p.Asn33085Ile)
c.80870A>T (p.Asn26957Ile)
c.102365A>T (p.Asn34122Ile)
c.102362A>T (p.Asn34121Ile)
c.101795A>T (p.Asn33932Ile)
c.99137A>T (p.Asn33046Ile)
c.99056A>T (p.Asn33019Ile)
c.80819A>T (p.Asn26940Ile)
c.70673A>T (p.Asn23558Ile)
2g.178527064T>CCA349398289TTN,TTN-AS1c.100220A>G (p.Asn33407Ser)
c.81305A>G (p.Asn27102Ser)
c.81104A>G (p.Asn27035Ser)
c.80729A>G (p.Asn26910Ser)
c.107924A>G (p.Asn35975Ser)
c.103001A>G (p.Asn34334Ser)
n.446+3428T>C
n.219+3428T>C
c.107021A>G (p.Asn35674Ser)
c.80915A>G (p.Asn26972Ser)
c.80774A>G (p.Asn26925Ser)
c.106817A>G (p.Asn35606Ser)
c.102215A>G (p.Asn34072Ser)
c.102212A>G (p.Asn34071Ser)
c.99254A>G (p.Asn33085Ser)
c.80870A>G (p.Asn26957Ser)
c.102365A>G (p.Asn34122Ser)
c.102362A>G (p.Asn34121Ser)
c.101795A>G (p.Asn33932Ser)
c.99137A>G (p.Asn33046Ser)
c.99056A>G (p.Asn33019Ser)
c.80819A>G (p.Asn26940Ser)
c.70673A>G (p.Asn23558Ser)
2g.178527064T>GCA349398292TTN,TTN-AS1c.100220A>C (p.Asn33407Thr)
c.81305A>C (p.Asn27102Thr)
c.81104A>C (p.Asn27035Thr)
c.80729A>C (p.Asn26910Thr)
c.107924A>C (p.Asn35975Thr)
c.103001A>C (p.Asn34334Thr)
n.446+3428T>G
n.219+3428T>G
c.107021A>C (p.Asn35674Thr)
c.80915A>C (p.Asn26972Thr)
c.80774A>C (p.Asn26925Thr)
c.106817A>C (p.Asn35606Thr)
c.102215A>C (p.Asn34072Thr)
c.102212A>C (p.Asn34071Thr)
c.99254A>C (p.Asn33085Thr)
c.80870A>C (p.Asn26957Thr)
c.102365A>C (p.Asn34122Thr)
c.102362A>C (p.Asn34121Thr)
c.101795A>C (p.Asn33932Thr)
c.99137A>C (p.Asn33046Thr)
c.99056A>C (p.Asn33019Thr)
c.80819A>C (p.Asn26940Thr)
c.70673A>C (p.Asn23558Thr)
2g.178527065T>ACA349398294TTN,TTN-AS1c.100219A>T (p.Asn33407Tyr)
c.81304A>T (p.Asn27102Tyr)
c.81103A>T (p.Asn27035Tyr)
c.80728A>T (p.Asn26910Tyr)
c.107923A>T (p.Asn35975Tyr)
c.103000A>T (p.Asn34334Tyr)
n.446+3429T>A
n.219+3429T>A
c.107020A>T (p.Asn35674Tyr)
c.80914A>T (p.Asn26972Tyr)
c.80773A>T (p.Asn26925Tyr)
c.106816A>T (p.Asn35606Tyr)
c.102214A>T (p.Asn34072Tyr)
c.102211A>T (p.Asn34071Tyr)
c.99253A>T (p.Asn33085Tyr)
c.80869A>T (p.Asn26957Tyr)
c.102364A>T (p.Asn34122Tyr)
c.102361A>T (p.Asn34121Tyr)
c.101794A>T (p.Asn33932Tyr)
c.99136A>T (p.Asn33046Tyr)
c.99055A>T (p.Asn33019Tyr)
c.80818A>T (p.Asn26940Tyr)
c.70672A>T (p.Asn23558Tyr)
2g.178527065T>CCA349398296TTN,TTN-AS1c.100219A>G (p.Asn33407Asp)
c.81304A>G (p.Asn27102Asp)
c.81103A>G (p.Asn27035Asp)
c.80728A>G (p.Asn26910Asp)
c.107923A>G (p.Asn35975Asp)
c.103000A>G (p.Asn34334Asp)
n.446+3429T>C
n.219+3429T>C
c.107020A>G (p.Asn35674Asp)
c.80914A>G (p.Asn26972Asp)
c.80773A>G (p.Asn26925Asp)
c.106816A>G (p.Asn35606Asp)
c.102214A>G (p.Asn34072Asp)
c.102211A>G (p.Asn34071Asp)
c.99253A>G (p.Asn33085Asp)
c.80869A>G (p.Asn26957Asp)
c.102364A>G (p.Asn34122Asp)
c.102361A>G (p.Asn34121Asp)
c.101794A>G (p.Asn33932Asp)
c.99136A>G (p.Asn33046Asp)
c.99055A>G (p.Asn33019Asp)
c.80818A>G (p.Asn26940Asp)
c.70672A>G (p.Asn23558Asp)
2g.178527065T>GCA349398300TTN,TTN-AS1c.100219A>C (p.Asn33407His)
c.81304A>C (p.Asn27102His)
c.81103A>C (p.Asn27035His)
c.80728A>C (p.Asn26910His)
c.107923A>C (p.Asn35975His)
c.103000A>C (p.Asn34334His)
n.446+3429T>G
n.219+3429T>G
c.107020A>C (p.Asn35674His)
c.80914A>C (p.Asn26972His)
c.80773A>C (p.Asn26925His)
c.106816A>C (p.Asn35606His)
c.102214A>C (p.Asn34072His)
c.102211A>C (p.Asn34071His)
c.99253A>C (p.Asn33085His)
c.80869A>C (p.Asn26957His)
c.102364A>C (p.Asn34122His)
c.102361A>C (p.Asn34121His)
c.101794A>C (p.Asn33932His)
c.99136A>C (p.Asn33046His)
c.99055A>C (p.Asn33019His)
c.80818A>C (p.Asn26940His)
c.70672A>C (p.Asn23558His)
2g.178527066C>ACA430091518TTN,TTN-AS1c.100218G>T (p.Gly33406=)
c.81303G>T (p.Gly27101=)
c.81102G>T (p.Gly27034=)
c.80727G>T (p.Gly26909=)
c.107922G>T (p.Gly35974=)
c.102999G>T (p.Gly34333=)
n.446+3430C>A
n.219+3430C>A
c.107019G>T (p.Gly35673=)
c.80913G>T (p.Gly26971=)
c.80772G>T (p.Gly26924=)
c.106815G>T (p.Gly35605=)
c.102213G>T (p.Gly34071=)
c.102210G>T (p.Gly34070=)
c.99252G>T (p.Gly33084=)
c.80868G>T (p.Gly26956=)
c.102363G>T (p.Gly34121=)
c.102360G>T (p.Gly34120=)
c.101793G>T (p.Gly33931=)
c.99135G>T (p.Gly33045=)
c.99054G>T (p.Gly33018=)
c.80817G>T (p.Gly26939=)
c.70671G>T (p.Gly23557=)
2g.178527066C>GCA430091520TTN,TTN-AS1c.100218G>C (p.Gly33406=)
c.81303G>C (p.Gly27101=)
c.81102G>C (p.Gly27034=)
c.80727G>C (p.Gly26909=)
c.107922G>C (p.Gly35974=)
c.102999G>C (p.Gly34333=)
n.446+3430C>G
n.219+3430C>G
c.107019G>C (p.Gly35673=)
c.80913G>C (p.Gly26971=)
c.80772G>C (p.Gly26924=)
c.106815G>C (p.Gly35605=)
c.102213G>C (p.Gly34071=)
c.102210G>C (p.Gly34070=)
c.99252G>C (p.Gly33084=)
c.80868G>C (p.Gly26956=)
c.102363G>C (p.Gly34121=)
c.102360G>C (p.Gly34120=)
c.101793G>C (p.Gly33931=)
c.99135G>C (p.Gly33045=)
c.99054G>C (p.Gly33018=)
c.80817G>C (p.Gly26939=)
c.70671G>C (p.Gly23557=)
2g.178527066C>TCA430091516TTN,TTN-AS1c.100218G>A (p.Gly33406=)
c.81303G>A (p.Gly27101=)
c.81102G>A (p.Gly27034=)
c.80727G>A (p.Gly26909=)
c.107922G>A (p.Gly35974=)
c.102999G>A (p.Gly34333=)
n.446+3430C>T
n.219+3430C>T
c.107019G>A (p.Gly35673=)
c.80913G>A (p.Gly26971=)
c.80772G>A (p.Gly26924=)
c.106815G>A (p.Gly35605=)
c.102213G>A (p.Gly34071=)
c.102210G>A (p.Gly34070=)
c.99252G>A (p.Gly33084=)
c.80868G>A (p.Gly26956=)
c.102363G>A (p.Gly34121=)
c.102360G>A (p.Gly34120=)
c.101793G>A (p.Gly33931=)
c.99135G>A (p.Gly33045=)
c.99054G>A (p.Gly33018=)
c.80817G>A (p.Gly26939=)
c.70671G>A (p.Gly23557=)
2g.178527067C>ACA349398304TTN,TTN-AS1c.100217G>T (p.Gly33406Val)
c.81302G>T (p.Gly27101Val)
c.81101G>T (p.Gly27034Val)
c.80726G>T (p.Gly26909Val)
c.107921G>T (p.Gly35974Val)
c.102998G>T (p.Gly34333Val)
n.446+3431C>A
n.219+3431C>A
c.107018G>T (p.Gly35673Val)
c.80912G>T (p.Gly26971Val)
c.80771G>T (p.Gly26924Val)
c.106814G>T (p.Gly35605Val)
c.102212G>T (p.Gly34071Val)
c.102209G>T (p.Gly34070Val)
c.99251G>T (p.Gly33084Val)
c.80867G>T (p.Gly26956Val)
c.102362G>T (p.Gly34121Val)
c.102359G>T (p.Gly34120Val)
c.101792G>T (p.Gly33931Val)
c.99134G>T (p.Gly33045Val)
c.99053G>T (p.Gly33018Val)
c.80816G>T (p.Gly26939Val)
c.70670G>T (p.Gly23557Val)
2g.178527067C>GCA349398307TTN,TTN-AS1c.100217G>C (p.Gly33406Ala)
c.81302G>C (p.Gly27101Ala)
c.81101G>C (p.Gly27034Ala)
c.80726G>C (p.Gly26909Ala)
c.107921G>C (p.Gly35974Ala)
c.102998G>C (p.Gly34333Ala)
n.446+3431C>G
n.219+3431C>G
c.107018G>C (p.Gly35673Ala)
c.80912G>C (p.Gly26971Ala)
c.80771G>C (p.Gly26924Ala)
c.106814G>C (p.Gly35605Ala)
c.102212G>C (p.Gly34071Ala)
c.102209G>C (p.Gly34070Ala)
c.99251G>C (p.Gly33084Ala)
c.80867G>C (p.Gly26956Ala)
c.102362G>C (p.Gly34121Ala)
c.102359G>C (p.Gly34120Ala)
c.101792G>C (p.Gly33931Ala)
c.99134G>C (p.Gly33045Ala)
c.99053G>C (p.Gly33018Ala)
c.80816G>C (p.Gly26939Ala)
c.70670G>C (p.Gly23557Ala)
2g.178527067C>TCA349398305TTN,TTN-AS1c.100217G>A (p.Gly33406Glu)
c.81302G>A (p.Gly27101Glu)
c.81101G>A (p.Gly27034Glu)
c.80726G>A (p.Gly26909Glu)
c.107921G>A (p.Gly35974Glu)
c.102998G>A (p.Gly34333Glu)
n.446+3431C>T
n.219+3431C>T
c.107018G>A (p.Gly35673Glu)
c.80912G>A (p.Gly26971Glu)
c.80771G>A (p.Gly26924Glu)
c.106814G>A (p.Gly35605Glu)
c.102212G>A (p.Gly34071Glu)
c.102209G>A (p.Gly34070Glu)
c.99251G>A (p.Gly33084Glu)
c.80867G>A (p.Gly26956Glu)
c.102362G>A (p.Gly34121Glu)
c.102359G>A (p.Gly34120Glu)
c.101792G>A (p.Gly33931Glu)
c.99134G>A (p.Gly33045Glu)
c.99053G>A (p.Gly33018Glu)
c.80816G>A (p.Gly26939Glu)
c.70670G>A (p.Gly23557Glu)
2g.178527068C>ACA349398310TTN,TTN-AS1c.100216G>T (p.Gly33406Trp)
c.81301G>T (p.Gly27101Trp)
c.81100G>T (p.Gly27034Trp)
c.80725G>T (p.Gly26909Trp)
c.107920G>T (p.Gly35974Trp)
c.102997G>T (p.Gly34333Trp)
n.446+3432C>A
n.219+3432C>A
c.107017G>T (p.Gly35673Trp)
c.80911G>T (p.Gly26971Trp)
c.80770G>T (p.Gly26924Trp)
c.106813G>T (p.Gly35605Trp)
c.102211G>T (p.Gly34071Trp)
c.102208G>T (p.Gly34070Trp)
c.99250G>T (p.Gly33084Trp)
c.80866G>T (p.Gly26956Trp)
c.102361G>T (p.Gly34121Trp)
c.102358G>T (p.Gly34120Trp)
c.101791G>T (p.Gly33931Trp)
c.99133G>T (p.Gly33045Trp)
c.99052G>T (p.Gly33018Trp)
c.80815G>T (p.Gly26939Trp)
c.70669G>T (p.Gly23557Trp)
2g.178527068C=CA1310514283TTN,TTN-AS1c.100216G= (p.Gly33406=)
c.81301G= (p.Gly27101=)
c.81100G= (p.Gly27034=)
c.80725G= (p.Gly26909=)
c.107920G= (p.Gly35974=)
c.102997G= (p.Gly34333=)
n.446+3432C=
n.219+3432C=
c.107017G= (p.Gly35673=)
c.80911G= (p.Gly26971=)
c.80770G= (p.Gly26924=)
c.106813G= (p.Gly35605=)
c.102211G= (p.Gly34071=)
c.102208G= (p.Gly34070=)
c.99250G= (p.Gly33084=)
c.80866G= (p.Gly26956=)
c.102361G= (p.Gly34121=)
c.102358G= (p.Gly34120=)
c.101791G= (p.Gly33931=)
c.99133G= (p.Gly33045=)
c.99052G= (p.Gly33018=)
c.80815G= (p.Gly26939=)
c.70669G= (p.Gly23557=)
2g.178527068C>GCA349398313TTN,TTN-AS1c.100216G>C (p.Gly33406Arg)
c.81301G>C (p.Gly27101Arg)
c.81100G>C (p.Gly27034Arg)
c.80725G>C (p.Gly26909Arg)
c.107920G>C (p.Gly35974Arg)
c.102997G>C (p.Gly34333Arg)
n.446+3432C>G
n.219+3432C>G
c.107017G>C (p.Gly35673Arg)
c.80911G>C (p.Gly26971Arg)
c.80770G>C (p.Gly26924Arg)
c.106813G>C (p.Gly35605Arg)
c.102211G>C (p.Gly34071Arg)
c.102208G>C (p.Gly34070Arg)
c.99250G>C (p.Gly33084Arg)
c.80866G>C (p.Gly26956Arg)
c.102361G>C (p.Gly34121Arg)
c.102358G>C (p.Gly34120Arg)
c.101791G>C (p.Gly33931Arg)
c.99133G>C (p.Gly33045Arg)
c.99052G>C (p.Gly33018Arg)
c.80815G>C (p.Gly26939Arg)
c.70669G>C (p.Gly23557Arg)
 gnomAD v4
2g.178527068C>TCA1984856TTN,TTN-AS1c.100216G>A (p.Gly33406Arg)
c.81301G>A (p.Gly27101Arg)
c.81100G>A (p.Gly27034Arg)
c.80725G>A (p.Gly26909Arg)
c.107920G>A (p.Gly35974Arg)
c.102997G>A (p.Gly34333Arg)
n.446+3432C>T
n.219+3432C>T
c.107017G>A (p.Gly35673Arg)
c.80911G>A (p.Gly26971Arg)
c.80770G>A (p.Gly26924Arg)
c.106813G>A (p.Gly35605Arg)
c.102211G>A (p.Gly34071Arg)
c.102208G>A (p.Gly34070Arg)
c.99250G>A (p.Gly33084Arg)
c.80866G>A (p.Gly26956Arg)
c.102361G>A (p.Gly34121Arg)
c.102358G>A (p.Gly34120Arg)
c.101791G>A (p.Gly33931Arg)
c.99133G>A (p.Gly33045Arg)
c.99052G>A (p.Gly33018Arg)
c.80815G>A (p.Gly26939Arg)
c.70669G>A (p.Gly23557Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178527069T>ACA349398319TTN,TTN-AS1c.100215A>T (p.Leu33405Phe)
c.81300A>T (p.Leu27100Phe)
c.81099A>T (p.Leu27033Phe)
c.80724A>T (p.Leu26908Phe)
c.107919A>T (p.Leu35973Phe)
c.102996A>T (p.Leu34332Phe)
n.446+3433T>A
n.219+3433T>A
c.107016A>T (p.Leu35672Phe)
c.80910A>T (p.Leu26970Phe)
c.80769A>T (p.Leu26923Phe)
c.106812A>T (p.Leu35604Phe)
c.102210A>T (p.Leu34070Phe)
c.102207A>T (p.Leu34069Phe)
c.99249A>T (p.Leu33083Phe)
c.80865A>T (p.Leu26955Phe)
c.102360A>T (p.Leu34120Phe)
c.102357A>T (p.Leu34119Phe)
c.101790A>T (p.Leu33930Phe)
c.99132A>T (p.Leu33044Phe)
c.99051A>T (p.Leu33017Phe)
c.80814A>T (p.Leu26938Phe)
c.70668A>T (p.Leu23556Phe)
2g.178527069T>CCA430091530TTN,TTN-AS1c.100215A>G (p.Leu33405=)
c.81300A>G (p.Leu27100=)
c.81099A>G (p.Leu27033=)
c.80724A>G (p.Leu26908=)
c.107919A>G (p.Leu35973=)
c.102996A>G (p.Leu34332=)
n.446+3433T>C
n.219+3433T>C
c.107016A>G (p.Leu35672=)
c.80910A>G (p.Leu26970=)
c.80769A>G (p.Leu26923=)
c.106812A>G (p.Leu35604=)
c.102210A>G (p.Leu34070=)
c.102207A>G (p.Leu34069=)
c.99249A>G (p.Leu33083=)
c.80865A>G (p.Leu26955=)
c.102360A>G (p.Leu34120=)
c.102357A>G (p.Leu34119=)
c.101790A>G (p.Leu33930=)
c.99132A>G (p.Leu33044=)
c.99051A>G (p.Leu33017=)
c.80814A>G (p.Leu26938=)
c.70668A>G (p.Leu23556=)
2g.178527069T>GCA349398321TTN,TTN-AS1c.100215A>C (p.Leu33405Phe)
c.81300A>C (p.Leu27100Phe)
c.81099A>C (p.Leu27033Phe)
c.80724A>C (p.Leu26908Phe)
c.107919A>C (p.Leu35973Phe)
c.102996A>C (p.Leu34332Phe)
n.446+3433T>G
n.219+3433T>G
c.107016A>C (p.Leu35672Phe)
c.80910A>C (p.Leu26970Phe)
c.80769A>C (p.Leu26923Phe)
c.106812A>C (p.Leu35604Phe)
c.102210A>C (p.Leu34070Phe)
c.102207A>C (p.Leu34069Phe)
c.99249A>C (p.Leu33083Phe)
c.80865A>C (p.Leu26955Phe)
c.102360A>C (p.Leu34120Phe)
c.102357A>C (p.Leu34119Phe)
c.101790A>C (p.Leu33930Phe)
c.99132A>C (p.Leu33044Phe)
c.99051A>C (p.Leu33017Phe)
c.80814A>C (p.Leu26938Phe)
c.70668A>C (p.Leu23556Phe)
2g.178527070A>CCA349398324TTN,TTN-AS1c.100214T>G (p.Leu33405Ter)
c.81299T>G (p.Leu27100Ter)
c.81098T>G (p.Leu27033Ter)
c.80723T>G (p.Leu26908Ter)
c.107918T>G (p.Leu35973Ter)
c.102995T>G (p.Leu34332Ter)
n.446+3434A>C
n.219+3434A>C
c.107015T>G (p.Leu35672Ter)
c.80909T>G (p.Leu26970Ter)
c.80768T>G (p.Leu26923Ter)
c.106811T>G (p.Leu35604Ter)
c.102209T>G (p.Leu34070Ter)
c.102206T>G (p.Leu34069Ter)
c.99248T>G (p.Leu33083Ter)
c.80864T>G (p.Leu26955Ter)
c.102359T>G (p.Leu34120Ter)
c.102356T>G (p.Leu34119Ter)
c.101789T>G (p.Leu33930Ter)
c.99131T>G (p.Leu33044Ter)
c.99050T>G (p.Leu33017Ter)
c.80813T>G (p.Leu26938Ter)
c.70667T>G (p.Leu23556Ter)
2g.178527070A>GCA349398327TTN,TTN-AS1c.100214T>C (p.Leu33405Ser)
c.81299T>C (p.Leu27100Ser)
c.81098T>C (p.Leu27033Ser)
c.80723T>C (p.Leu26908Ser)
c.107918T>C (p.Leu35973Ser)
c.102995T>C (p.Leu34332Ser)
n.446+3434A>G
n.219+3434A>G
c.107015T>C (p.Leu35672Ser)
c.80909T>C (p.Leu26970Ser)
c.80768T>C (p.Leu26923Ser)
c.106811T>C (p.Leu35604Ser)
c.102209T>C (p.Leu34070Ser)
c.102206T>C (p.Leu34069Ser)
c.99248T>C (p.Leu33083Ser)
c.80864T>C (p.Leu26955Ser)
c.102359T>C (p.Leu34120Ser)
c.102356T>C (p.Leu34119Ser)
c.101789T>C (p.Leu33930Ser)
c.99131T>C (p.Leu33044Ser)
c.99050T>C (p.Leu33017Ser)
c.80813T>C (p.Leu26938Ser)
c.70667T>C (p.Leu23556Ser)
2g.178527070A>TCA349398330TTN,TTN-AS1c.100214T>A (p.Leu33405Ter)
c.81299T>A (p.Leu27100Ter)
c.81098T>A (p.Leu27033Ter)
c.80723T>A (p.Leu26908Ter)
c.107918T>A (p.Leu35973Ter)
c.102995T>A (p.Leu34332Ter)
n.446+3434A>T
n.219+3434A>T
c.107015T>A (p.Leu35672Ter)
c.80909T>A (p.Leu26970Ter)
c.80768T>A (p.Leu26923Ter)
c.106811T>A (p.Leu35604Ter)
c.102209T>A (p.Leu34070Ter)
c.102206T>A (p.Leu34069Ter)
c.99248T>A (p.Leu33083Ter)
c.80864T>A (p.Leu26955Ter)
c.102359T>A (p.Leu34120Ter)
c.102356T>A (p.Leu34119Ter)
c.101789T>A (p.Leu33930Ter)
c.99131T>A (p.Leu33044Ter)
c.99050T>A (p.Leu33017Ter)
c.80813T>A (p.Leu26938Ter)
c.70667T>A (p.Leu23556Ter)
2g.178527071A>CCA349398332TTN,TTN-AS1c.100213T>G (p.Leu33405Val)
c.81298T>G (p.Leu27100Val)
c.81097T>G (p.Leu27033Val)
c.80722T>G (p.Leu26908Val)
c.107917T>G (p.Leu35973Val)
c.102994T>G (p.Leu34332Val)
n.446+3435A>C
n.219+3435A>C
c.107014T>G (p.Leu35672Val)
c.80908T>G (p.Leu26970Val)
c.80767T>G (p.Leu26923Val)
c.106810T>G (p.Leu35604Val)
c.102208T>G (p.Leu34070Val)
c.102205T>G (p.Leu34069Val)
c.99247T>G (p.Leu33083Val)
c.80863T>G (p.Leu26955Val)
c.102358T>G (p.Leu34120Val)
c.102355T>G (p.Leu34119Val)
c.101788T>G (p.Leu33930Val)
c.99130T>G (p.Leu33044Val)
c.99049T>G (p.Leu33017Val)
c.80812T>G (p.Leu26938Val)
c.70666T>G (p.Leu23556Val)
2g.178527071A>GCA430091537TTN,TTN-AS1c.100213T>C (p.Leu33405=)
c.81298T>C (p.Leu27100=)
c.81097T>C (p.Leu27033=)
c.80722T>C (p.Leu26908=)
c.107917T>C (p.Leu35973=)
c.102994T>C (p.Leu34332=)
n.446+3435A>G
n.219+3435A>G
c.107014T>C (p.Leu35672=)
c.80908T>C (p.Leu26970=)
c.80767T>C (p.Leu26923=)
c.106810T>C (p.Leu35604=)
c.102208T>C (p.Leu34070=)
c.102205T>C (p.Leu34069=)
c.99247T>C (p.Leu33083=)
c.80863T>C (p.Leu26955=)
c.102358T>C (p.Leu34120=)
c.102355T>C (p.Leu34119=)
c.101788T>C (p.Leu33930=)
c.99130T>C (p.Leu33044=)
c.99049T>C (p.Leu33017=)
c.80812T>C (p.Leu26938=)
c.70666T>C (p.Leu23556=)
2g.178527071A>TCA349398334TTN,TTN-AS1c.100213T>A (p.Leu33405Ile)
c.81298T>A (p.Leu27100Ile)
c.81097T>A (p.Leu27033Ile)
c.80722T>A (p.Leu26908Ile)
c.107917T>A (p.Leu35973Ile)
c.102994T>A (p.Leu34332Ile)
n.446+3435A>T
n.219+3435A>T
c.107014T>A (p.Leu35672Ile)
c.80908T>A (p.Leu26970Ile)
c.80767T>A (p.Leu26923Ile)
c.106810T>A (p.Leu35604Ile)
c.102208T>A (p.Leu34070Ile)
c.102205T>A (p.Leu34069Ile)
c.99247T>A (p.Leu33083Ile)
c.80863T>A (p.Leu26955Ile)
c.102358T>A (p.Leu34120Ile)
c.102355T>A (p.Leu34119Ile)
c.101788T>A (p.Leu33930Ile)
c.99130T>A (p.Leu33044Ile)
c.99049T>A (p.Leu33017Ile)
c.80812T>A (p.Leu26938Ile)
c.70666T>A (p.Leu23556Ile)
2g.178527072A=CA1310514284TTN,TTN-AS1c.100212T= (p.Ser33404=)
c.81297T= (p.Ser27099=)
c.81096T= (p.Ser27032=)
c.80721T= (p.Ser26907=)
c.107916T= (p.Ser35972=)
c.102993T= (p.Ser34331=)
n.446+3436A=
n.219+3436A=
c.107013T= (p.Ser35671=)
c.80907T= (p.Ser26969=)
c.80766T= (p.Ser26922=)
c.106809T= (p.Ser35603=)
c.102207T= (p.Ser34069=)
c.102204T= (p.Ser34068=)
c.99246T= (p.Ser33082=)
c.80862T= (p.Ser26954=)
c.102357T= (p.Ser34119=)
c.102354T= (p.Ser34118=)
c.101787T= (p.Ser33929=)
c.99129T= (p.Ser33043=)
c.99048T= (p.Ser33016=)
c.80811T= (p.Ser26937=)
c.70665T= (p.Ser23555=)
2g.178527072A>CCA349398338TTN,TTN-AS1c.100212T>G (p.Ser33404Arg)
c.81297T>G (p.Ser27099Arg)
c.81096T>G (p.Ser27032Arg)
c.80721T>G (p.Ser26907Arg)
c.107916T>G (p.Ser35972Arg)
c.102993T>G (p.Ser34331Arg)
n.446+3436A>C
n.219+3436A>C
c.107013T>G (p.Ser35671Arg)
c.80907T>G (p.Ser26969Arg)
c.80766T>G (p.Ser26922Arg)
c.106809T>G (p.Ser35603Arg)
c.102207T>G (p.Ser34069Arg)
c.102204T>G (p.Ser34068Arg)
c.99246T>G (p.Ser33082Arg)
c.80862T>G (p.Ser26954Arg)
c.102357T>G (p.Ser34119Arg)
c.102354T>G (p.Ser34118Arg)
c.101787T>G (p.Ser33929Arg)
c.99129T>G (p.Ser33043Arg)
c.99048T>G (p.Ser33016Arg)
c.80811T>G (p.Ser26937Arg)
c.70665T>G (p.Ser23555Arg)
2g.178527072A>GCA430091543TTN,TTN-AS1c.100212T>C (p.Ser33404=)
c.81297T>C (p.Ser27099=)
c.81096T>C (p.Ser27032=)
c.80721T>C (p.Ser26907=)
c.107916T>C (p.Ser35972=)
c.102993T>C (p.Ser34331=)
n.446+3436A>G
n.219+3436A>G
c.107013T>C (p.Ser35671=)
c.80907T>C (p.Ser26969=)
c.80766T>C (p.Ser26922=)
c.106809T>C (p.Ser35603=)
c.102207T>C (p.Ser34069=)
c.102204T>C (p.Ser34068=)
c.99246T>C (p.Ser33082=)
c.80862T>C (p.Ser26954=)
c.102357T>C (p.Ser34119=)
c.102354T>C (p.Ser34118=)
c.101787T>C (p.Ser33929=)
c.99129T>C (p.Ser33043=)
c.99048T>C (p.Ser33016=)
c.80811T>C (p.Ser26937=)
c.70665T>C (p.Ser23555=)
 dbSNP
2g.178527072A>TCA349398340TTN,TTN-AS1c.100212T>A (p.Ser33404Arg)
c.81297T>A (p.Ser27099Arg)
c.81096T>A (p.Ser27032Arg)
c.80721T>A (p.Ser26907Arg)
c.107916T>A (p.Ser35972Arg)
c.102993T>A (p.Ser34331Arg)
n.446+3436A>T
n.219+3436A>T
c.107013T>A (p.Ser35671Arg)
c.80907T>A (p.Ser26969Arg)
c.80766T>A (p.Ser26922Arg)
c.106809T>A (p.Ser35603Arg)
c.102207T>A (p.Ser34069Arg)
c.102204T>A (p.Ser34068Arg)
c.99246T>A (p.Ser33082Arg)
c.80862T>A (p.Ser26954Arg)
c.102357T>A (p.Ser34119Arg)
c.102354T>A (p.Ser34118Arg)
c.101787T>A (p.Ser33929Arg)
c.99129T>A (p.Ser33043Arg)
c.99048T>A (p.Ser33016Arg)
c.80811T>A (p.Ser26937Arg)
c.70665T>A (p.Ser23555Arg)
 gnomAD v4
2g.178527073C>ACA138651TTN,TTN-AS1c.100211G>T (p.Ser33404Ile)
c.81296G>T (p.Ser27099Ile)
c.81095G>T (p.Ser27032Ile)
c.80720G>T (p.Ser26907Ile)
c.107915G>T (p.Ser35972Ile)
c.102992G>T (p.Ser34331Ile)
n.446+3437C>A
n.219+3437C>A
c.107012G>T (p.Ser35671Ile)
c.80906G>T (p.Ser26969Ile)
c.80765G>T (p.Ser26922Ile)
c.106808G>T (p.Ser35603Ile)
c.102206G>T (p.Ser34069Ile)
c.102203G>T (p.Ser34068Ile)
c.99245G>T (p.Ser33082Ile)
c.80861G>T (p.Ser26954Ile)
c.102356G>T (p.Ser34119Ile)
c.102353G>T (p.Ser34118Ile)
c.101786G>T (p.Ser33929Ile)
c.99128G>T (p.Ser33043Ile)
c.99047G>T (p.Ser33016Ile)
c.80810G>T (p.Ser26937Ile)
c.70664G>T (p.Ser23555Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178527073C=CA1310514285TTN,TTN-AS1c.100211G= (p.Ser33404=)
c.81296G= (p.Ser27099=)
c.81095G= (p.Ser27032=)
c.80720G= (p.Ser26907=)
c.107915G= (p.Ser35972=)
c.102992G= (p.Ser34331=)
n.446+3437C=
n.219+3437C=
c.107012G= (p.Ser35671=)
c.80906G= (p.Ser26969=)
c.80765G= (p.Ser26922=)
c.106808G= (p.Ser35603=)
c.102206G= (p.Ser34069=)
c.102203G= (p.Ser34068=)
c.99245G= (p.Ser33082=)
c.80861G= (p.Ser26954=)
c.102356G= (p.Ser34119=)
c.102353G= (p.Ser34118=)
c.101786G= (p.Ser33929=)
c.99128G= (p.Ser33043=)
c.99047G= (p.Ser33016=)
c.80810G= (p.Ser26937=)
c.70664G= (p.Ser23555=)
2g.178527073C>GCA349398345TTN,TTN-AS1c.100211G>C (p.Ser33404Thr)
c.81296G>C (p.Ser27099Thr)
c.81095G>C (p.Ser27032Thr)
c.80720G>C (p.Ser26907Thr)
c.107915G>C (p.Ser35972Thr)
c.102992G>C (p.Ser34331Thr)
n.446+3437C>G
n.219+3437C>G
c.107012G>C (p.Ser35671Thr)
c.80906G>C (p.Ser26969Thr)
c.80765G>C (p.Ser26922Thr)
c.106808G>C (p.Ser35603Thr)
c.102206G>C (p.Ser34069Thr)
c.102203G>C (p.Ser34068Thr)
c.99245G>C (p.Ser33082Thr)
c.80861G>C (p.Ser26954Thr)
c.102356G>C (p.Ser34119Thr)
c.102353G>C (p.Ser34118Thr)
c.101786G>C (p.Ser33929Thr)
c.99128G>C (p.Ser33043Thr)
c.99047G>C (p.Ser33016Thr)
c.80810G>C (p.Ser26937Thr)
c.70664G>C (p.Ser23555Thr)
2g.178527073C>TCA349398343TTN,TTN-AS1c.100211G>A (p.Ser33404Asn)
c.81296G>A (p.Ser27099Asn)
c.81095G>A (p.Ser27032Asn)
c.80720G>A (p.Ser26907Asn)
c.107915G>A (p.Ser35972Asn)
c.102992G>A (p.Ser34331Asn)
n.446+3437C>T
n.219+3437C>T
c.107012G>A (p.Ser35671Asn)
c.80906G>A (p.Ser26969Asn)
c.80765G>A (p.Ser26922Asn)
c.106808G>A (p.Ser35603Asn)
c.102206G>A (p.Ser34069Asn)
c.102203G>A (p.Ser34068Asn)
c.99245G>A (p.Ser33082Asn)
c.80861G>A (p.Ser26954Asn)
c.102356G>A (p.Ser34119Asn)
c.102353G>A (p.Ser34118Asn)
c.101786G>A (p.Ser33929Asn)
c.99128G>A (p.Ser33043Asn)
c.99047G>A (p.Ser33016Asn)
c.80810G>A (p.Ser26937Asn)
c.70664G>A (p.Ser23555Asn)
 gnomAD v4
2g.178527074T>ACA349398356TTN,TTN-AS1c.100210A>T (p.Ser33404Cys)
c.81295A>T (p.Ser27099Cys)
c.81094A>T (p.Ser27032Cys)
c.80719A>T (p.Ser26907Cys)
c.107914A>T (p.Ser35972Cys)
c.102991A>T (p.Ser34331Cys)
n.446+3438T>A
n.219+3438T>A
c.107011A>T (p.Ser35671Cys)
c.80905A>T (p.Ser26969Cys)
c.80764A>T (p.Ser26922Cys)
c.106807A>T (p.Ser35603Cys)
c.102205A>T (p.Ser34069Cys)
c.102202A>T (p.Ser34068Cys)
c.99244A>T (p.Ser33082Cys)
c.80860A>T (p.Ser26954Cys)
c.102355A>T (p.Ser34119Cys)
c.102352A>T (p.Ser34118Cys)
c.101785A>T (p.Ser33929Cys)
c.99127A>T (p.Ser33043Cys)
c.99046A>T (p.Ser33016Cys)
c.80809A>T (p.Ser26937Cys)
c.70663A>T (p.Ser23555Cys)
2g.178527074T>CCA349398351TTN,TTN-AS1c.100210A>G (p.Ser33404Gly)
c.81295A>G (p.Ser27099Gly)
c.81094A>G (p.Ser27032Gly)
c.80719A>G (p.Ser26907Gly)
c.107914A>G (p.Ser35972Gly)
c.102991A>G (p.Ser34331Gly)
n.446+3438T>C
n.219+3438T>C
c.107011A>G (p.Ser35671Gly)
c.80905A>G (p.Ser26969Gly)
c.80764A>G (p.Ser26922Gly)
c.106807A>G (p.Ser35603Gly)
c.102205A>G (p.Ser34069Gly)
c.102202A>G (p.Ser34068Gly)
c.99244A>G (p.Ser33082Gly)
c.80860A>G (p.Ser26954Gly)
c.102355A>G (p.Ser34119Gly)
c.102352A>G (p.Ser34118Gly)
c.101785A>G (p.Ser33929Gly)
c.99127A>G (p.Ser33043Gly)
c.99046A>G (p.Ser33016Gly)
c.80809A>G (p.Ser26937Gly)
c.70663A>G (p.Ser23555Gly)
2g.178527074T>GCA349398353TTN,TTN-AS1c.100210A>C (p.Ser33404Arg)
c.81295A>C (p.Ser27099Arg)
c.81094A>C (p.Ser27032Arg)
c.80719A>C (p.Ser26907Arg)
c.107914A>C (p.Ser35972Arg)
c.102991A>C (p.Ser34331Arg)
n.446+3438T>G
n.219+3438T>G
c.107011A>C (p.Ser35671Arg)
c.80905A>C (p.Ser26969Arg)
c.80764A>C (p.Ser26922Arg)
c.106807A>C (p.Ser35603Arg)
c.102205A>C (p.Ser34069Arg)
c.102202A>C (p.Ser34068Arg)
c.99244A>C (p.Ser33082Arg)
c.80860A>C (p.Ser26954Arg)
c.102355A>C (p.Ser34119Arg)
c.102352A>C (p.Ser34118Arg)
c.101785A>C (p.Ser33929Arg)
c.99127A>C (p.Ser33043Arg)
c.99046A>C (p.Ser33016Arg)
c.80809A>C (p.Ser26937Arg)
c.70663A>C (p.Ser23555Arg)
2g.178527075C>ACA430091556TTN,TTN-AS1c.100209G>T (p.Leu33403=)
c.81294G>T (p.Leu27098=)
c.81093G>T (p.Leu27031=)
c.80718G>T (p.Leu26906=)
c.107913G>T (p.Leu35971=)
c.102990G>T (p.Leu34330=)
n.446+3439C>A
n.219+3439C>A
c.107010G>T (p.Leu35670=)
c.80904G>T (p.Leu26968=)
c.80763G>T (p.Leu26921=)
c.106806G>T (p.Leu35602=)
c.102204G>T (p.Leu34068=)
c.102201G>T (p.Leu34067=)
c.99243G>T (p.Leu33081=)
c.80859G>T (p.Leu26953=)
c.102354G>T (p.Leu34118=)
c.102351G>T (p.Leu34117=)
c.101784G>T (p.Leu33928=)
c.99126G>T (p.Leu33042=)
c.99045G>T (p.Leu33015=)
c.80808G>T (p.Leu26936=)
c.70662G>T (p.Leu23554=)
2g.178527075C=CA1310514286TTN,TTN-AS1c.100209G= (p.Leu33403=)
c.81294G= (p.Leu27098=)
c.81093G= (p.Leu27031=)
c.80718G= (p.Leu26906=)
c.107913G= (p.Leu35971=)
c.102990G= (p.Leu34330=)
n.446+3439C=
n.219+3439C=
c.107010G= (p.Leu35670=)
c.80904G= (p.Leu26968=)
c.80763G= (p.Leu26921=)
c.106806G= (p.Leu35602=)
c.102204G= (p.Leu34068=)
c.102201G= (p.Leu34067=)
c.99243G= (p.Leu33081=)
c.80859G= (p.Leu26953=)
c.102354G= (p.Leu34118=)
c.102351G= (p.Leu34117=)
c.101784G= (p.Leu33928=)
c.99126G= (p.Leu33042=)
c.99045G= (p.Leu33015=)
c.80808G= (p.Leu26936=)
c.70662G= (p.Leu23554=)
2g.178527075C>GCA430091558TTN,TTN-AS1c.100209G>C (p.Leu33403=)
c.81294G>C (p.Leu27098=)
c.81093G>C (p.Leu27031=)
c.80718G>C (p.Leu26906=)
c.107913G>C (p.Leu35971=)
c.102990G>C (p.Leu34330=)
n.446+3439C>G
n.219+3439C>G
c.107010G>C (p.Leu35670=)
c.80904G>C (p.Leu26968=)
c.80763G>C (p.Leu26921=)
c.106806G>C (p.Leu35602=)
c.102204G>C (p.Leu34068=)
c.102201G>C (p.Leu34067=)
c.99243G>C (p.Leu33081=)
c.80859G>C (p.Leu26953=)
c.102354G>C (p.Leu34118=)
c.102351G>C (p.Leu34117=)
c.101784G>C (p.Leu33928=)
c.99126G>C (p.Leu33042=)
c.99045G>C (p.Leu33015=)
c.80808G>C (p.Leu26936=)
c.70662G>C (p.Leu23554=)
 ClinVar dbSNP
2g.178527075C>TCA430091559TTN,TTN-AS1c.100209G>A (p.Leu33403=)
c.81294G>A (p.Leu27098=)
c.81093G>A (p.Leu27031=)
c.80718G>A (p.Leu26906=)
c.107913G>A (p.Leu35971=)
c.102990G>A (p.Leu34330=)
n.446+3439C>T
n.219+3439C>T
c.107010G>A (p.Leu35670=)
c.80904G>A (p.Leu26968=)
c.80763G>A (p.Leu26921=)
c.106806G>A (p.Leu35602=)
c.102204G>A (p.Leu34068=)
c.102201G>A (p.Leu34067=)
c.99243G>A (p.Leu33081=)
c.80859G>A (p.Leu26953=)
c.102354G>A (p.Leu34118=)
c.102351G>A (p.Leu34117=)
c.101784G>A (p.Leu33928=)
c.99126G>A (p.Leu33042=)
c.99045G>A (p.Leu33015=)
c.80808G>A (p.Leu26936=)
c.70662G>A (p.Leu23554=)
 dbSNP gnomAD v3 gnomAD v4
2g.178527076A=CA1310514287TTN,TTN-AS1c.100208T= (p.Leu33403=)
c.81293T= (p.Leu27098=)
c.81092T= (p.Leu27031=)
c.80717T= (p.Leu26906=)
c.107912T= (p.Leu35971=)
c.102989T= (p.Leu34330=)
n.446+3440A=
n.219+3440A=
c.107009T= (p.Leu35670=)
c.80903T= (p.Leu26968=)
c.80762T= (p.Leu26921=)
c.106805T= (p.Leu35602=)
c.102203T= (p.Leu34068=)
c.102200T= (p.Leu34067=)
c.99242T= (p.Leu33081=)
c.80858T= (p.Leu26953=)
c.102353T= (p.Leu34118=)
c.102350T= (p.Leu34117=)
c.101783T= (p.Leu33928=)
c.99125T= (p.Leu33042=)
c.99044T= (p.Leu33015=)
c.80807T= (p.Leu26936=)
c.70661T= (p.Leu23554=)
2g.178527076A>CCA349398359TTN,TTN-AS1c.100208T>G (p.Leu33403Arg)
c.81293T>G (p.Leu27098Arg)
c.81092T>G (p.Leu27031Arg)
c.80717T>G (p.Leu26906Arg)
c.107912T>G (p.Leu35971Arg)
c.102989T>G (p.Leu34330Arg)
n.446+3440A>C
n.219+3440A>C
c.107009T>G (p.Leu35670Arg)
c.80903T>G (p.Leu26968Arg)
c.80762T>G (p.Leu26921Arg)
c.106805T>G (p.Leu35602Arg)
c.102203T>G (p.Leu34068Arg)
c.102200T>G (p.Leu34067Arg)
c.99242T>G (p.Leu33081Arg)
c.80858T>G (p.Leu26953Arg)
c.102353T>G (p.Leu34118Arg)
c.102350T>G (p.Leu34117Arg)
c.101783T>G (p.Leu33928Arg)
c.99125T>G (p.Leu33042Arg)
c.99044T>G (p.Leu33015Arg)
c.80807T>G (p.Leu26936Arg)
c.70661T>G (p.Leu23554Arg)
2g.178527076A>GCA349398361TTN,TTN-AS1c.100208T>C (p.Leu33403Pro)
c.81293T>C (p.Leu27098Pro)
c.81092T>C (p.Leu27031Pro)
c.80717T>C (p.Leu26906Pro)
c.107912T>C (p.Leu35971Pro)
c.102989T>C (p.Leu34330Pro)
n.446+3440A>G
n.219+3440A>G
c.107009T>C (p.Leu35670Pro)
c.80903T>C (p.Leu26968Pro)
c.80762T>C (p.Leu26921Pro)
c.106805T>C (p.Leu35602Pro)
c.102203T>C (p.Leu34068Pro)
c.102200T>C (p.Leu34067Pro)
c.99242T>C (p.Leu33081Pro)
c.80858T>C (p.Leu26953Pro)
c.102353T>C (p.Leu34118Pro)
c.102350T>C (p.Leu34117Pro)
c.101783T>C (p.Leu33928Pro)
c.99125T>C (p.Leu33042Pro)
c.99044T>C (p.Leu33015Pro)
c.80807T>C (p.Leu26936Pro)
c.70661T>C (p.Leu23554Pro)
2g.178527076A>TCA349398362TTN,TTN-AS1c.100208T>A (p.Leu33403Gln)
c.81293T>A (p.Leu27098Gln)
c.81092T>A (p.Leu27031Gln)
c.80717T>A (p.Leu26906Gln)
c.107912T>A (p.Leu35971Gln)
c.102989T>A (p.Leu34330Gln)
n.446+3440A>T
n.219+3440A>T
c.107009T>A (p.Leu35670Gln)
c.80903T>A (p.Leu26968Gln)
c.80762T>A (p.Leu26921Gln)
c.106805T>A (p.Leu35602Gln)
c.102203T>A (p.Leu34068Gln)
c.102200T>A (p.Leu34067Gln)
c.99242T>A (p.Leu33081Gln)
c.80858T>A (p.Leu26953Gln)
c.102353T>A (p.Leu34118Gln)
c.102350T>A (p.Leu34117Gln)
c.101783T>A (p.Leu33928Gln)
c.99125T>A (p.Leu33042Gln)
c.99044T>A (p.Leu33015Gln)
c.80807T>A (p.Leu26936Gln)
c.70661T>A (p.Leu23554Gln)
 ClinVar dbSNP
2g.178527076_178527077delCA2573134048TTN,TTN-AS1c.100207_100208del (p.Leu33403GlufsTer5)
c.81292_81293del (p.Leu27098GlufsTer5)
c.81091_81092del (p.Leu27031GlufsTer5)
c.80716_80717del (p.Leu26906GlufsTer5)
c.107911_107912del (p.Leu35971GlufsTer5)
c.102988_102989del (p.Leu34330GlufsTer5)
n.446+3440_446+3441del
n.219+3440_219+3441del
c.107008_107009del (p.Leu35670GlufsTer5)
c.80902_80903del (p.Leu26968GlufsTer5)
c.80761_80762del (p.Leu26921GlufsTer5)
c.106804_106805del (p.Leu35602GlufsTer5)
c.102202_102203del (p.Leu34068GlufsTer5)
c.102199_102200del (p.Leu34067GlufsTer5)
c.99241_99242del (p.Leu33081GlufsTer5)
c.80857_80858del (p.Leu26953GlufsTer5)
c.102352_102353del (p.Leu34118GlufsTer5)
c.102349_102350del (p.Leu34117GlufsTer5)
c.101782_101783del (p.Leu33928GlufsTer5)
c.99124_99125del (p.Leu33042GlufsTer5)
c.99043_99044del (p.Leu33015GlufsTer5)
c.80806_80807del (p.Leu26936GlufsTer5)
c.70660_70661del (p.Leu23554GlufsTer5)
 ClinVar dbSNP gnomAD v4
2g.178527077G>ACA430091564TTN,TTN-AS1c.100207C>T (p.Leu33403=)
c.81292C>T (p.Leu27098=)
c.81091C>T (p.Leu27031=)
c.80716C>T (p.Leu26906=)
c.107911C>T (p.Leu35971=)
c.102988C>T (p.Leu34330=)
n.446+3441G>A
n.219+3441G>A
c.107008C>T (p.Leu35670=)
c.80902C>T (p.Leu26968=)
c.80761C>T (p.Leu26921=)
c.106804C>T (p.Leu35602=)
c.102202C>T (p.Leu34068=)
c.102199C>T (p.Leu34067=)
c.99241C>T (p.Leu33081=)
c.80857C>T (p.Leu26953=)
c.102352C>T (p.Leu34118=)
c.102349C>T (p.Leu34117=)
c.101782C>T (p.Leu33928=)
c.99124C>T (p.Leu33042=)
c.99043C>T (p.Leu33015=)
c.80806C>T (p.Leu26936=)
c.70660C>T (p.Leu23554=)
2g.178527077G>CCA349398365TTN,TTN-AS1c.100207C>G (p.Leu33403Val)
c.81292C>G (p.Leu27098Val)
c.81091C>G (p.Leu27031Val)
c.80716C>G (p.Leu26906Val)
c.107911C>G (p.Leu35971Val)
c.102988C>G (p.Leu34330Val)
n.446+3441G>C
n.219+3441G>C
c.107008C>G (p.Leu35670Val)
c.80902C>G (p.Leu26968Val)
c.80761C>G (p.Leu26921Val)
c.106804C>G (p.Leu35602Val)
c.102202C>G (p.Leu34068Val)
c.102199C>G (p.Leu34067Val)
c.99241C>G (p.Leu33081Val)
c.80857C>G (p.Leu26953Val)
c.102352C>G (p.Leu34118Val)
c.102349C>G (p.Leu34117Val)
c.101782C>G (p.Leu33928Val)
c.99124C>G (p.Leu33042Val)
c.99043C>G (p.Leu33015Val)
c.80806C>G (p.Leu26936Val)
c.70660C>G (p.Leu23554Val)
 gnomAD v4
2g.178527077G>TCA349398368TTN,TTN-AS1c.100207C>A (p.Leu33403Met)
c.81292C>A (p.Leu27098Met)
c.81091C>A (p.Leu27031Met)
c.80716C>A (p.Leu26906Met)
c.107911C>A (p.Leu35971Met)
c.102988C>A (p.Leu34330Met)
n.446+3441G>T
n.219+3441G>T
c.107008C>A (p.Leu35670Met)
c.80902C>A (p.Leu26968Met)
c.80761C>A (p.Leu26921Met)
c.106804C>A (p.Leu35602Met)
c.102202C>A (p.Leu34068Met)
c.102199C>A (p.Leu34067Met)
c.99241C>A (p.Leu33081Met)
c.80857C>A (p.Leu26953Met)
c.102352C>A (p.Leu34118Met)
c.102349C>A (p.Leu34117Met)
c.101782C>A (p.Leu33928Met)
c.99124C>A (p.Leu33042Met)
c.99043C>A (p.Leu33015Met)
c.80806C>A (p.Leu26936Met)
c.70660C>A (p.Leu23554Met)
2g.178527078G>ACA430091570TTN,TTN-AS1c.100206C>T (p.Thr33402=)
c.81291C>T (p.Thr27097=)
c.81090C>T (p.Thr27030=)
c.80715C>T (p.Thr26905=)
c.107910C>T (p.Thr35970=)
c.102987C>T (p.Thr34329=)
n.446+3442G>A
n.219+3442G>A
c.107007C>T (p.Thr35669=)
c.80901C>T (p.Thr26967=)
c.80760C>T (p.Thr26920=)
c.106803C>T (p.Thr35601=)
c.102201C>T (p.Thr34067=)
c.102198C>T (p.Thr34066=)
c.99240C>T (p.Thr33080=)
c.80856C>T (p.Thr26952=)
c.102351C>T (p.Thr34117=)
c.102348C>T (p.Thr34116=)
c.101781C>T (p.Thr33927=)
c.99123C>T (p.Thr33041=)
c.99042C>T (p.Thr33014=)
c.80805C>T (p.Thr26935=)
c.70659C>T (p.Thr23553=)
 dbSNP gnomAD v4
2g.178527078G>CCA430091571TTN,TTN-AS1c.100206C>G (p.Thr33402=)
c.81291C>G (p.Thr27097=)
c.81090C>G (p.Thr27030=)
c.80715C>G (p.Thr26905=)
c.107910C>G (p.Thr35970=)
c.102987C>G (p.Thr34329=)
n.446+3442G>C
n.219+3442G>C
c.107007C>G (p.Thr35669=)
c.80901C>G (p.Thr26967=)
c.80760C>G (p.Thr26920=)
c.106803C>G (p.Thr35601=)
c.102201C>G (p.Thr34067=)
c.102198C>G (p.Thr34066=)
c.99240C>G (p.Thr33080=)
c.80856C>G (p.Thr26952=)
c.102351C>G (p.Thr34117=)
c.102348C>G (p.Thr34116=)
c.101781C>G (p.Thr33927=)
c.99123C>G (p.Thr33041=)
c.99042C>G (p.Thr33014=)
c.80805C>G (p.Thr26935=)
c.70659C>G (p.Thr23553=)
 dbSNP gnomAD v3 gnomAD v4
2g.178527078G=CA1310514288TTN,TTN-AS1c.100206C= (p.Thr33402=)
c.81291C= (p.Thr27097=)
c.81090C= (p.Thr27030=)
c.80715C= (p.Thr26905=)
c.107910C= (p.Thr35970=)
c.102987C= (p.Thr34329=)
n.446+3442G=
n.219+3442G=
c.107007C= (p.Thr35669=)
c.80901C= (p.Thr26967=)
c.80760C= (p.Thr26920=)
c.106803C= (p.Thr35601=)
c.102201C= (p.Thr34067=)
c.102198C= (p.Thr34066=)
c.99240C= (p.Thr33080=)
c.80856C= (p.Thr26952=)
c.102351C= (p.Thr34117=)
c.102348C= (p.Thr34116=)
c.101781C= (p.Thr33927=)
c.99123C= (p.Thr33041=)
c.99042C= (p.Thr33014=)
c.80805C= (p.Thr26935=)
c.70659C= (p.Thr23553=)
2g.178527078G>TCA430091574TTN,TTN-AS1c.100206C>A (p.Thr33402=)
c.81291C>A (p.Thr27097=)
c.81090C>A (p.Thr27030=)
c.80715C>A (p.Thr26905=)
c.107910C>A (p.Thr35970=)
c.102987C>A (p.Thr34329=)
n.446+3442G>T
n.219+3442G>T
c.107007C>A (p.Thr35669=)
c.80901C>A (p.Thr26967=)
c.80760C>A (p.Thr26920=)
c.106803C>A (p.Thr35601=)
c.102201C>A (p.Thr34067=)
c.102198C>A (p.Thr34066=)
c.99240C>A (p.Thr33080=)
c.80856C>A (p.Thr26952=)
c.102351C>A (p.Thr34117=)
c.102348C>A (p.Thr34116=)
c.101781C>A (p.Thr33927=)
c.99123C>A (p.Thr33041=)
c.99042C>A (p.Thr33014=)
c.80805C>A (p.Thr26935=)
c.70659C>A (p.Thr23553=)
 gnomAD v4
2g.178527079G>ACA349398371TTN,TTN-AS1c.100205C>T (p.Thr33402Ile)
c.81290C>T (p.Thr27097Ile)
c.81089C>T (p.Thr27030Ile)
c.80714C>T (p.Thr26905Ile)
c.107909C>T (p.Thr35970Ile)
c.102986C>T (p.Thr34329Ile)
n.446+3443G>A
n.219+3443G>A
c.107006C>T (p.Thr35669Ile)
c.80900C>T (p.Thr26967Ile)
c.80759C>T (p.Thr26920Ile)
c.106802C>T (p.Thr35601Ile)
c.102200C>T (p.Thr34067Ile)
c.102197C>T (p.Thr34066Ile)
c.99239C>T (p.Thr33080Ile)
c.80855C>T (p.Thr26952Ile)
c.102350C>T (p.Thr34117Ile)
c.102347C>T (p.Thr34116Ile)
c.101780C>T (p.Thr33927Ile)
c.99122C>T (p.Thr33041Ile)
c.99041C>T (p.Thr33014Ile)
c.80804C>T (p.Thr26935Ile)
c.70658C>T (p.Thr23553Ile)
 ClinVar dbSNP gnomAD v4
2g.178527079G>CCA1984858TTN,TTN-AS1c.100205C>G (p.Thr33402Ser)
c.81290C>G (p.Thr27097Ser)
c.81089C>G (p.Thr27030Ser)
c.80714C>G (p.Thr26905Ser)
c.107909C>G (p.Thr35970Ser)
c.102986C>G (p.Thr34329Ser)
n.446+3443G>C
n.219+3443G>C
c.107006C>G (p.Thr35669Ser)
c.80900C>G (p.Thr26967Ser)
c.80759C>G (p.Thr26920Ser)
c.106802C>G (p.Thr35601Ser)
c.102200C>G (p.Thr34067Ser)
c.102197C>G (p.Thr34066Ser)
c.99239C>G (p.Thr33080Ser)
c.80855C>G (p.Thr26952Ser)
c.102350C>G (p.Thr34117Ser)
c.102347C>G (p.Thr34116Ser)
c.101780C>G (p.Thr33927Ser)
c.99122C>G (p.Thr33041Ser)
c.99041C>G (p.Thr33014Ser)
c.80804C>G (p.Thr26935Ser)
c.70658C>G (p.Thr23553Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178527079G=CA1310514289TTN,TTN-AS1c.100205C= (p.Thr33402=)
c.81290C= (p.Thr27097=)
c.81089C= (p.Thr27030=)
c.80714C= (p.Thr26905=)
c.107909C= (p.Thr35970=)
c.102986C= (p.Thr34329=)
n.446+3443G=
n.219+3443G=
c.107006C= (p.Thr35669=)
c.80900C= (p.Thr26967=)
c.80759C= (p.Thr26920=)
c.106802C= (p.Thr35601=)
c.102200C= (p.Thr34067=)
c.102197C= (p.Thr34066=)
c.99239C= (p.Thr33080=)
c.80855C= (p.Thr26952=)
c.102350C= (p.Thr34117=)
c.102347C= (p.Thr34116=)
c.101780C= (p.Thr33927=)
c.99122C= (p.Thr33041=)
c.99041C= (p.Thr33014=)
c.80804C= (p.Thr26935=)
c.70658C= (p.Thr23553=)
2g.178527079G>TCA1984857TTN,TTN-AS1c.100205C>A (p.Thr33402Asn)
c.81290C>A (p.Thr27097Asn)
c.81089C>A (p.Thr27030Asn)
c.80714C>A (p.Thr26905Asn)
c.107909C>A (p.Thr35970Asn)
c.102986C>A (p.Thr34329Asn)
n.446+3443G>T
n.219+3443G>T
c.107006C>A (p.Thr35669Asn)
c.80900C>A (p.Thr26967Asn)
c.80759C>A (p.Thr26920Asn)
c.106802C>A (p.Thr35601Asn)
c.102200C>A (p.Thr34067Asn)
c.102197C>A (p.Thr34066Asn)
c.99239C>A (p.Thr33080Asn)
c.80855C>A (p.Thr26952Asn)
c.102350C>A (p.Thr34117Asn)
c.102347C>A (p.Thr34116Asn)
c.101780C>A (p.Thr33927Asn)
c.99122C>A (p.Thr33041Asn)
c.99041C>A (p.Thr33014Asn)
c.80804C>A (p.Thr26935Asn)
c.70658C>A (p.Thr23553Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178527080T>ACA349398376TTN,TTN-AS1c.100204A>T (p.Thr33402Ser)
c.81289A>T (p.Thr27097Ser)
c.81088A>T (p.Thr27030Ser)
c.80713A>T (p.Thr26905Ser)
c.107908A>T (p.Thr35970Ser)
c.102985A>T (p.Thr34329Ser)
n.446+3444T>A
n.219+3444T>A
c.107005A>T (p.Thr35669Ser)
c.80899A>T (p.Thr26967Ser)
c.80758A>T (p.Thr26920Ser)
c.106801A>T (p.Thr35601Ser)
c.102199A>T (p.Thr34067Ser)
c.102196A>T (p.Thr34066Ser)
c.99238A>T (p.Thr33080Ser)
c.80854A>T (p.Thr26952Ser)
c.102349A>T (p.Thr34117Ser)
c.102346A>T (p.Thr34116Ser)
c.101779A>T (p.Thr33927Ser)
c.99121A>T (p.Thr33041Ser)
c.99040A>T (p.Thr33014Ser)
c.80803A>T (p.Thr26935Ser)
c.70657A>T (p.Thr23553Ser)
2g.178527080T>CCA349398378TTN,TTN-AS1c.100204A>G (p.Thr33402Ala)
c.81289A>G (p.Thr27097Ala)
c.81088A>G (p.Thr27030Ala)
c.80713A>G (p.Thr26905Ala)
c.107908A>G (p.Thr35970Ala)
c.102985A>G (p.Thr34329Ala)
n.446+3444T>C
n.219+3444T>C
c.107005A>G (p.Thr35669Ala)
c.80899A>G (p.Thr26967Ala)
c.80758A>G (p.Thr26920Ala)
c.106801A>G (p.Thr35601Ala)
c.102199A>G (p.Thr34067Ala)
c.102196A>G (p.Thr34066Ala)
c.99238A>G (p.Thr33080Ala)
c.80854A>G (p.Thr26952Ala)
c.102349A>G (p.Thr34117Ala)
c.102346A>G (p.Thr34116Ala)
c.101779A>G (p.Thr33927Ala)
c.99121A>G (p.Thr33041Ala)
c.99040A>G (p.Thr33014Ala)
c.80803A>G (p.Thr26935Ala)
c.70657A>G (p.Thr23553Ala)
2g.178527080T>GCA349398381TTN,TTN-AS1c.100204A>C (p.Thr33402Pro)
c.81289A>C (p.Thr27097Pro)
c.81088A>C (p.Thr27030Pro)
c.80713A>C (p.Thr26905Pro)
c.107908A>C (p.Thr35970Pro)
c.102985A>C (p.Thr34329Pro)
n.446+3444T>G
n.219+3444T>G
c.107005A>C (p.Thr35669Pro)
c.80899A>C (p.Thr26967Pro)
c.80758A>C (p.Thr26920Pro)
c.106801A>C (p.Thr35601Pro)
c.102199A>C (p.Thr34067Pro)
c.102196A>C (p.Thr34066Pro)
c.99238A>C (p.Thr33080Pro)
c.80854A>C (p.Thr26952Pro)
c.102349A>C (p.Thr34117Pro)
c.102346A>C (p.Thr34116Pro)
c.101779A>C (p.Thr33927Pro)
c.99121A>C (p.Thr33041Pro)
c.99040A>C (p.Thr33014Pro)
c.80803A>C (p.Thr26935Pro)
c.70657A>C (p.Thr23553Pro)
2g.178527081A=CA1310514290TTN,TTN-AS1c.100203T= (p.Tyr33401=)
c.81288T= (p.Tyr27096=)
c.81087T= (p.Tyr27029=)
c.80712T= (p.Tyr26904=)
c.107907T= (p.Tyr35969=)
c.102984T= (p.Tyr34328=)
n.446+3445A=
n.219+3445A=
c.107004T= (p.Tyr35668=)
c.80898T= (p.Tyr26966=)
c.80757T= (p.Tyr26919=)
c.106800T= (p.Tyr35600=)
c.102198T= (p.Tyr34066=)
c.102195T= (p.Tyr34065=)
c.99237T= (p.Tyr33079=)
c.80853T= (p.Tyr26951=)
c.102348T= (p.Tyr34116=)
c.102345T= (p.Tyr34115=)
c.101778T= (p.Tyr33926=)
c.99120T= (p.Tyr33040=)
c.99039T= (p.Tyr33013=)
c.80802T= (p.Tyr26934=)
c.70656T= (p.Tyr23552=)
2g.178527081A>CCA349398384TTN,TTN-AS1c.100203T>G (p.Tyr33401Ter)
c.81288T>G (p.Tyr27096Ter)
c.81087T>G (p.Tyr27029Ter)
c.80712T>G (p.Tyr26904Ter)
c.107907T>G (p.Tyr35969Ter)
c.102984T>G (p.Tyr34328Ter)
n.446+3445A>C
n.219+3445A>C
c.107004T>G (p.Tyr35668Ter)
c.80898T>G (p.Tyr26966Ter)
c.80757T>G (p.Tyr26919Ter)
c.106800T>G (p.Tyr35600Ter)
c.102198T>G (p.Tyr34066Ter)
c.102195T>G (p.Tyr34065Ter)
c.99237T>G (p.Tyr33079Ter)
c.80853T>G (p.Tyr26951Ter)
c.102348T>G (p.Tyr34116Ter)
c.102345T>G (p.Tyr34115Ter)
c.101778T>G (p.Tyr33926Ter)
c.99120T>G (p.Tyr33040Ter)
c.99039T>G (p.Tyr33013Ter)
c.80802T>G (p.Tyr26934Ter)
c.70656T>G (p.Tyr23552Ter)
2g.178527081A>GCA430091583TTN,TTN-AS1c.100203T>C (p.Tyr33401=)
c.81288T>C (p.Tyr27096=)
c.81087T>C (p.Tyr27029=)
c.80712T>C (p.Tyr26904=)
c.107907T>C (p.Tyr35969=)
c.102984T>C (p.Tyr34328=)
n.446+3445A>G
n.219+3445A>G
c.107004T>C (p.Tyr35668=)
c.80898T>C (p.Tyr26966=)
c.80757T>C (p.Tyr26919=)
c.106800T>C (p.Tyr35600=)
c.102198T>C (p.Tyr34066=)
c.102195T>C (p.Tyr34065=)
c.99237T>C (p.Tyr33079=)
c.80853T>C (p.Tyr26951=)
c.102348T>C (p.Tyr34116=)
c.102345T>C (p.Tyr34115=)
c.101778T>C (p.Tyr33926=)
c.99120T>C (p.Tyr33040=)
c.99039T>C (p.Tyr33013=)
c.80802T>C (p.Tyr26934=)
c.70656T>C (p.Tyr23552=)
 dbSNP gnomAD v3 gnomAD v4
2g.178527081A>TCA349398386TTN,TTN-AS1c.100203T>A (p.Tyr33401Ter)
c.81288T>A (p.Tyr27096Ter)
c.81087T>A (p.Tyr27029Ter)
c.80712T>A (p.Tyr26904Ter)
c.107907T>A (p.Tyr35969Ter)
c.102984T>A (p.Tyr34328Ter)
n.446+3445A>T
n.219+3445A>T
c.107004T>A (p.Tyr35668Ter)
c.80898T>A (p.Tyr26966Ter)
c.80757T>A (p.Tyr26919Ter)
c.106800T>A (p.Tyr35600Ter)
c.102198T>A (p.Tyr34066Ter)
c.102195T>A (p.Tyr34065Ter)
c.99237T>A (p.Tyr33079Ter)
c.80853T>A (p.Tyr26951Ter)
c.102348T>A (p.Tyr34116Ter)
c.102345T>A (p.Tyr34115Ter)
c.101778T>A (p.Tyr33926Ter)
c.99120T>A (p.Tyr33040Ter)
c.99039T>A (p.Tyr33013Ter)
c.80802T>A (p.Tyr26934Ter)
c.70656T>A (p.Tyr23552Ter)
2g.178527082T>ACA349398394TTN,TTN-AS1c.100202A>T (p.Tyr33401Phe)
c.81287A>T (p.Tyr27096Phe)
c.81086A>T (p.Tyr27029Phe)
c.80711A>T (p.Tyr26904Phe)
c.107906A>T (p.Tyr35969Phe)
c.102983A>T (p.Tyr34328Phe)
n.446+3446T>A
n.219+3446T>A
c.107003A>T (p.Tyr35668Phe)
c.80897A>T (p.Tyr26966Phe)
c.80756A>T (p.Tyr26919Phe)
c.106799A>T (p.Tyr35600Phe)
c.102197A>T (p.Tyr34066Phe)
c.102194A>T (p.Tyr34065Phe)
c.99236A>T (p.Tyr33079Phe)
c.80852A>T (p.Tyr26951Phe)
c.102347A>T (p.Tyr34116Phe)
c.102344A>T (p.Tyr34115Phe)
c.101777A>T (p.Tyr33926Phe)
c.99119A>T (p.Tyr33040Phe)
c.99038A>T (p.Tyr33013Phe)
c.80801A>T (p.Tyr26934Phe)
c.70655A>T (p.Tyr23552Phe)
2g.178527082T>CCA349398390TTN,TTN-AS1c.100202A>G (p.Tyr33401Cys)
c.81287A>G (p.Tyr27096Cys)
c.81086A>G (p.Tyr27029Cys)
c.80711A>G (p.Tyr26904Cys)
c.107906A>G (p.Tyr35969Cys)
c.102983A>G (p.Tyr34328Cys)
n.446+3446T>C
n.219+3446T>C
c.107003A>G (p.Tyr35668Cys)
c.80897A>G (p.Tyr26966Cys)
c.80756A>G (p.Tyr26919Cys)
c.106799A>G (p.Tyr35600Cys)
c.102197A>G (p.Tyr34066Cys)
c.102194A>G (p.Tyr34065Cys)
c.99236A>G (p.Tyr33079Cys)
c.80852A>G (p.Tyr26951Cys)
c.102347A>G (p.Tyr34116Cys)
c.102344A>G (p.Tyr34115Cys)
c.101777A>G (p.Tyr33926Cys)
c.99119A>G (p.Tyr33040Cys)
c.99038A>G (p.Tyr33013Cys)
c.80801A>G (p.Tyr26934Cys)
c.70655A>G (p.Tyr23552Cys)
2g.178527082T>GCA349398391TTN,TTN-AS1c.100202A>C (p.Tyr33401Ser)
c.81287A>C (p.Tyr27096Ser)
c.81086A>C (p.Tyr27029Ser)
c.80711A>C (p.Tyr26904Ser)
c.107906A>C (p.Tyr35969Ser)
c.102983A>C (p.Tyr34328Ser)
n.446+3446T>G
n.219+3446T>G
c.107003A>C (p.Tyr35668Ser)
c.80897A>C (p.Tyr26966Ser)
c.80756A>C (p.Tyr26919Ser)
c.106799A>C (p.Tyr35600Ser)
c.102197A>C (p.Tyr34066Ser)
c.102194A>C (p.Tyr34065Ser)
c.99236A>C (p.Tyr33079Ser)
c.80852A>C (p.Tyr26951Ser)
c.102347A>C (p.Tyr34116Ser)
c.102344A>C (p.Tyr34115Ser)
c.101777A>C (p.Tyr33926Ser)
c.99119A>C (p.Tyr33040Ser)
c.99038A>C (p.Tyr33013Ser)
c.80801A>C (p.Tyr26934Ser)
c.70655A>C (p.Tyr23552Ser)
2g.178527083A>CCA349398397TTN,TTN-AS1c.100201T>G (p.Tyr33401Asp)
c.81286T>G (p.Tyr27096Asp)
c.81085T>G (p.Tyr27029Asp)
c.80710T>G (p.Tyr26904Asp)
c.107905T>G (p.Tyr35969Asp)
c.102982T>G (p.Tyr34328Asp)
n.446+3447A>C
n.219+3447A>C
c.107002T>G (p.Tyr35668Asp)
c.80896T>G (p.Tyr26966Asp)
c.80755T>G (p.Tyr26919Asp)
c.106798T>G (p.Tyr35600Asp)
c.102196T>G (p.Tyr34066Asp)
c.102193T>G (p.Tyr34065Asp)
c.99235T>G (p.Tyr33079Asp)
c.80851T>G (p.Tyr26951Asp)
c.102346T>G (p.Tyr34116Asp)
c.102343T>G (p.Tyr34115Asp)
c.101776T>G (p.Tyr33926Asp)
c.99118T>G (p.Tyr33040Asp)
c.99037T>G (p.Tyr33013Asp)
c.80800T>G (p.Tyr26934Asp)
c.70654T>G (p.Tyr23552Asp)
2g.178527083A>GCA349398402TTN,TTN-AS1c.100201T>C (p.Tyr33401His)
c.81286T>C (p.Tyr27096His)
c.81085T>C (p.Tyr27029His)
c.80710T>C (p.Tyr26904His)
c.107905T>C (p.Tyr35969His)
c.102982T>C (p.Tyr34328His)
n.446+3447A>G
n.219+3447A>G
c.107002T>C (p.Tyr35668His)
c.80896T>C (p.Tyr26966His)
c.80755T>C (p.Tyr26919His)
c.106798T>C (p.Tyr35600His)
c.102196T>C (p.Tyr34066His)
c.102193T>C (p.Tyr34065His)
c.99235T>C (p.Tyr33079His)
c.80851T>C (p.Tyr26951His)
c.102346T>C (p.Tyr34116His)
c.102343T>C (p.Tyr34115His)
c.101776T>C (p.Tyr33926His)
c.99118T>C (p.Tyr33040His)
c.99037T>C (p.Tyr33013His)
c.80800T>C (p.Tyr26934His)
c.70654T>C (p.Tyr23552His)
2g.178527083A>TCA349398403TTN,TTN-AS1c.100201T>A (p.Tyr33401Asn)
c.81286T>A (p.Tyr27096Asn)
c.81085T>A (p.Tyr27029Asn)
c.80710T>A (p.Tyr26904Asn)
c.107905T>A (p.Tyr35969Asn)
c.102982T>A (p.Tyr34328Asn)
n.446+3447A>T
n.219+3447A>T
c.107002T>A (p.Tyr35668Asn)
c.80896T>A (p.Tyr26966Asn)
c.80755T>A (p.Tyr26919Asn)
c.106798T>A (p.Tyr35600Asn)
c.102196T>A (p.Tyr34066Asn)
c.102193T>A (p.Tyr34065Asn)
c.99235T>A (p.Tyr33079Asn)
c.80851T>A (p.Tyr26951Asn)
c.102346T>A (p.Tyr34116Asn)
c.102343T>A (p.Tyr34115Asn)
c.101776T>A (p.Tyr33926Asn)
c.99118T>A (p.Tyr33040Asn)
c.99037T>A (p.Tyr33013Asn)
c.80800T>A (p.Tyr26934Asn)
c.70654T>A (p.Tyr23552Asn)
2g.178527084A>CCA430091597TTN,TTN-AS1c.100200T>G (p.Leu33400=)
c.81285T>G (p.Leu27095=)
c.81084T>G (p.Leu27028=)
c.80709T>G (p.Leu26903=)
c.107904T>G (p.Leu35968=)
c.102981T>G (p.Leu34327=)
n.446+3448A>C
n.219+3448A>C
c.107001T>G (p.Leu35667=)
c.80895T>G (p.Leu26965=)
c.80754T>G (p.Leu26918=)
c.106797T>G (p.Leu35599=)
c.102195T>G (p.Leu34065=)
c.102192T>G (p.Leu34064=)
c.99234T>G (p.Leu33078=)
c.80850T>G (p.Leu26950=)
c.102345T>G (p.Leu34115=)
c.102342T>G (p.Leu34114=)
c.101775T>G (p.Leu33925=)
c.99117T>G (p.Leu33039=)
c.99036T>G (p.Leu33012=)
c.80799T>G (p.Leu26933=)
c.70653T>G (p.Leu23551=)
 dbSNP
2g.178527084A>GCA430091599TTN,TTN-AS1c.100200T>C (p.Leu33400=)
c.81285T>C (p.Leu27095=)
c.81084T>C (p.Leu27028=)
c.80709T>C (p.Leu26903=)
c.107904T>C (p.Leu35968=)
c.102981T>C (p.Leu34327=)
n.446+3448A>G
n.219+3448A>G
c.107001T>C (p.Leu35667=)
c.80895T>C (p.Leu26965=)
c.80754T>C (p.Leu26918=)
c.106797T>C (p.Leu35599=)
c.102195T>C (p.Leu34065=)
c.102192T>C (p.Leu34064=)
c.99234T>C (p.Leu33078=)
c.80850T>C (p.Leu26950=)
c.102345T>C (p.Leu34115=)
c.102342T>C (p.Leu34114=)
c.101775T>C (p.Leu33925=)
c.99117T>C (p.Leu33039=)
c.99036T>C (p.Leu33012=)
c.80799T>C (p.Leu26933=)
c.70653T>C (p.Leu23551=)
2g.178527084A>TCA430091601TTN,TTN-AS1c.100200T>A (p.Leu33400=)
c.81285T>A (p.Leu27095=)
c.81084T>A (p.Leu27028=)
c.80709T>A (p.Leu26903=)
c.107904T>A (p.Leu35968=)
c.102981T>A (p.Leu34327=)
n.446+3448A>T
n.219+3448A>T
c.107001T>A (p.Leu35667=)
c.80895T>A (p.Leu26965=)
c.80754T>A (p.Leu26918=)
c.106797T>A (p.Leu35599=)
c.102195T>A (p.Leu34065=)
c.102192T>A (p.Leu34064=)
c.99234T>A (p.Leu33078=)
c.80850T>A (p.Leu26950=)
c.102345T>A (p.Leu34115=)
c.102342T>A (p.Leu34114=)
c.101775T>A (p.Leu33925=)
c.99117T>A (p.Leu33039=)
c.99036T>A (p.Leu33012=)
c.80799T>A (p.Leu26933=)
c.70653T>A (p.Leu23551=)
2g.178527085A=CA1310514291TTN,TTN-AS1c.100199T= (p.Leu33400=)
c.81284T= (p.Leu27095=)
c.81083T= (p.Leu27028=)
c.80708T= (p.Leu26903=)
c.107903T= (p.Leu35968=)
c.102980T= (p.Leu34327=)
n.446+3449A=
n.219+3449A=
c.107000T= (p.Leu35667=)
c.80894T= (p.Leu26965=)
c.80753T= (p.Leu26918=)
c.106796T= (p.Leu35599=)
c.102194T= (p.Leu34065=)
c.102191T= (p.Leu34064=)
c.99233T= (p.Leu33078=)
c.80849T= (p.Leu26950=)
c.102344T= (p.Leu34115=)
c.102341T= (p.Leu34114=)
c.101774T= (p.Leu33925=)
c.99116T= (p.Leu33039=)
c.99035T= (p.Leu33012=)
c.80798T= (p.Leu26933=)
c.70652T= (p.Leu23551=)
2g.178527085A>CCA349398404TTN,TTN-AS1c.100199T>G (p.Leu33400Arg)
c.81284T>G (p.Leu27095Arg)
c.81083T>G (p.Leu27028Arg)
c.80708T>G (p.Leu26903Arg)
c.107903T>G (p.Leu35968Arg)
c.102980T>G (p.Leu34327Arg)
n.446+3449A>C
n.219+3449A>C
c.107000T>G (p.Leu35667Arg)
c.80894T>G (p.Leu26965Arg)
c.80753T>G (p.Leu26918Arg)
c.106796T>G (p.Leu35599Arg)
c.102194T>G (p.Leu34065Arg)
c.102191T>G (p.Leu34064Arg)
c.99233T>G (p.Leu33078Arg)
c.80849T>G (p.Leu26950Arg)
c.102344T>G (p.Leu34115Arg)
c.102341T>G (p.Leu34114Arg)
c.101774T>G (p.Leu33925Arg)
c.99116T>G (p.Leu33039Arg)
c.99035T>G (p.Leu33012Arg)
c.80798T>G (p.Leu26933Arg)
c.70652T>G (p.Leu23551Arg)
 ClinVar dbSNP
2g.178527085A>GCA349398405TTN,TTN-AS1c.100199T>C (p.Leu33400Pro)
c.81284T>C (p.Leu27095Pro)
c.81083T>C (p.Leu27028Pro)
c.80708T>C (p.Leu26903Pro)
c.107903T>C (p.Leu35968Pro)
c.102980T>C (p.Leu34327Pro)
n.446+3449A>G
n.219+3449A>G
c.107000T>C (p.Leu35667Pro)
c.80894T>C (p.Leu26965Pro)
c.80753T>C (p.Leu26918Pro)
c.106796T>C (p.Leu35599Pro)
c.102194T>C (p.Leu34065Pro)
c.102191T>C (p.Leu34064Pro)
c.99233T>C (p.Leu33078Pro)
c.80849T>C (p.Leu26950Pro)
c.102344T>C (p.Leu34115Pro)
c.102341T>C (p.Leu34114Pro)
c.101774T>C (p.Leu33925Pro)
c.99116T>C (p.Leu33039Pro)
c.99035T>C (p.Leu33012Pro)
c.80798T>C (p.Leu26933Pro)
c.70652T>C (p.Leu23551Pro)
 ClinVar dbSNP
2g.178527085A>TCA349398406TTN,TTN-AS1c.100199T>A (p.Leu33400His)
c.81284T>A (p.Leu27095His)
c.81083T>A (p.Leu27028His)
c.80708T>A (p.Leu26903His)
c.107903T>A (p.Leu35968His)
c.102980T>A (p.Leu34327His)
n.446+3449A>T
n.219+3449A>T
c.107000T>A (p.Leu35667His)
c.80894T>A (p.Leu26965His)
c.80753T>A (p.Leu26918His)
c.106796T>A (p.Leu35599His)
c.102194T>A (p.Leu34065His)
c.102191T>A (p.Leu34064His)
c.99233T>A (p.Leu33078His)
c.80849T>A (p.Leu26950His)
c.102344T>A (p.Leu34115His)
c.102341T>A (p.Leu34114His)
c.101774T>A (p.Leu33925His)
c.99116T>A (p.Leu33039His)
c.99035T>A (p.Leu33012His)
c.80798T>A (p.Leu26933His)
c.70652T>A (p.Leu23551His)
2g.178527086G>ACA349398407TTN,TTN-AS1c.100198C>T (p.Leu33400Phe)
c.81283C>T (p.Leu27095Phe)
c.81082C>T (p.Leu27028Phe)
c.80707C>T (p.Leu26903Phe)
c.107902C>T (p.Leu35968Phe)
c.102979C>T (p.Leu34327Phe)
n.446+3450G>A
n.219+3450G>A
c.106999C>T (p.Leu35667Phe)
c.80893C>T (p.Leu26965Phe)
c.80752C>T (p.Leu26918Phe)
c.106795C>T (p.Leu35599Phe)
c.102193C>T (p.Leu34065Phe)
c.102190C>T (p.Leu34064Phe)
c.99232C>T (p.Leu33078Phe)
c.80848C>T (p.Leu26950Phe)
c.102343C>T (p.Leu34115Phe)
c.102340C>T (p.Leu34114Phe)
c.101773C>T (p.Leu33925Phe)
c.99115C>T (p.Leu33039Phe)
c.99034C>T (p.Leu33012Phe)
c.80797C>T (p.Leu26933Phe)
c.70651C>T (p.Leu23551Phe)
 dbSNP
2g.178527086G>CCA349398408TTN,TTN-AS1c.100198C>G (p.Leu33400Val)
c.81283C>G (p.Leu27095Val)
c.81082C>G (p.Leu27028Val)
c.80707C>G (p.Leu26903Val)
c.107902C>G (p.Leu35968Val)
c.102979C>G (p.Leu34327Val)
n.446+3450G>C
n.219+3450G>C
c.106999C>G (p.Leu35667Val)
c.80893C>G (p.Leu26965Val)
c.80752C>G (p.Leu26918Val)
c.106795C>G (p.Leu35599Val)
c.102193C>G (p.Leu34065Val)
c.102190C>G (p.Leu34064Val)
c.99232C>G (p.Leu33078Val)
c.80848C>G (p.Leu26950Val)
c.102343C>G (p.Leu34115Val)
c.102340C>G (p.Leu34114Val)
c.101773C>G (p.Leu33925Val)
c.99115C>G (p.Leu33039Val)
c.99034C>G (p.Leu33012Val)
c.80797C>G (p.Leu26933Val)
c.70651C>G (p.Leu23551Val)
2g.178527086G=CA1310514292TTN,TTN-AS1c.100198C= (p.Leu33400=)
c.81283C= (p.Leu27095=)
c.81082C= (p.Leu27028=)
c.80707C= (p.Leu26903=)
c.107902C= (p.Leu35968=)
c.102979C= (p.Leu34327=)
n.446+3450G=
n.219+3450G=
c.106999C= (p.Leu35667=)
c.80893C= (p.Leu26965=)
c.80752C= (p.Leu26918=)
c.106795C= (p.Leu35599=)
c.102193C= (p.Leu34065=)
c.102190C= (p.Leu34064=)
c.99232C= (p.Leu33078=)
c.80848C= (p.Leu26950=)
c.102343C= (p.Leu34115=)
c.102340C= (p.Leu34114=)
c.101773C= (p.Leu33925=)
c.99115C= (p.Leu33039=)
c.99034C= (p.Leu33012=)
c.80797C= (p.Leu26933=)
c.70651C= (p.Leu23551=)
2g.178527086G>TCA349398409TTN,TTN-AS1c.100198C>A (p.Leu33400Ile)
c.81283C>A (p.Leu27095Ile)
c.81082C>A (p.Leu27028Ile)
c.80707C>A (p.Leu26903Ile)
c.107902C>A (p.Leu35968Ile)
c.102979C>A (p.Leu34327Ile)
n.446+3450G>T
n.219+3450G>T
c.106999C>A (p.Leu35667Ile)
c.80893C>A (p.Leu26965Ile)
c.80752C>A (p.Leu26918Ile)
c.106795C>A (p.Leu35599Ile)
c.102193C>A (p.Leu34065Ile)
c.102190C>A (p.Leu34064Ile)
c.99232C>A (p.Leu33078Ile)
c.80848C>A (p.Leu26950Ile)
c.102343C>A (p.Leu34115Ile)
c.102340C>A (p.Leu34114Ile)
c.101773C>A (p.Leu33925Ile)
c.99115C>A (p.Leu33039Ile)
c.99034C>A (p.Leu33012Ile)
c.80797C>A (p.Leu26933Ile)
c.70651C>A (p.Leu23551Ile)
2g.178527087T>ACA1984859TTN,TTN-AS1c.100197A>T (p.Gly33399=)
c.81282A>T (p.Gly27094=)
c.81081A>T (p.Gly27027=)
c.80706A>T (p.Gly26902=)
c.107901A>T (p.Gly35967=)
c.102978A>T (p.Gly34326=)
n.446+3451T>A
n.219+3451T>A
c.106998A>T (p.Gly35666=)
c.80892A>T (p.Gly26964=)
c.80751A>T (p.Gly26917=)
c.106794A>T (p.Gly35598=)
c.102192A>T (p.Gly34064=)
c.102189A>T (p.Gly34063=)
c.99231A>T (p.Gly33077=)
c.80847A>T (p.Gly26949=)
c.102342A>T (p.Gly34114=)
c.102339A>T (p.Gly34113=)
c.101772A>T (p.Gly33924=)
c.99114A>T (p.Gly33038=)
c.99033A>T (p.Gly33011=)
c.80796A>T (p.Gly26932=)
c.70650A>T (p.Gly23550=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178527087T>CCA430091612TTN,TTN-AS1c.100197A>G (p.Gly33399=)
c.81282A>G (p.Gly27094=)
c.81081A>G (p.Gly27027=)
c.80706A>G (p.Gly26902=)
c.107901A>G (p.Gly35967=)
c.102978A>G (p.Gly34326=)
n.446+3451T>C
n.219+3451T>C
c.106998A>G (p.Gly35666=)
c.80892A>G (p.Gly26964=)
c.80751A>G (p.Gly26917=)
c.106794A>G (p.Gly35598=)
c.102192A>G (p.Gly34064=)
c.102189A>G (p.Gly34063=)
c.99231A>G (p.Gly33077=)
c.80847A>G (p.Gly26949=)
c.102342A>G (p.Gly34114=)
c.102339A>G (p.Gly34113=)
c.101772A>G (p.Gly33924=)
c.99114A>G (p.Gly33038=)
c.99033A>G (p.Gly33011=)
c.80796A>G (p.Gly26932=)
c.70650A>G (p.Gly23550=)
 dbSNP
2g.178527087T>GCA430091609TTN,TTN-AS1c.100197A>C (p.Gly33399=)
c.81282A>C (p.Gly27094=)
c.81081A>C (p.Gly27027=)
c.80706A>C (p.Gly26902=)
c.107901A>C (p.Gly35967=)
c.102978A>C (p.Gly34326=)
n.446+3451T>G
n.219+3451T>G
c.106998A>C (p.Gly35666=)
c.80892A>C (p.Gly26964=)
c.80751A>C (p.Gly26917=)
c.106794A>C (p.Gly35598=)
c.102192A>C (p.Gly34064=)
c.102189A>C (p.Gly34063=)
c.99231A>C (p.Gly33077=)
c.80847A>C (p.Gly26949=)
c.102342A>C (p.Gly34114=)
c.102339A>C (p.Gly34113=)
c.101772A>C (p.Gly33924=)
c.99114A>C (p.Gly33038=)
c.99033A>C (p.Gly33011=)
c.80796A>C (p.Gly26932=)
c.70650A>C (p.Gly23550=)
2g.178527087T=CA1310514293TTN,TTN-AS1c.100197A= (p.Gly33399=)
c.81282A= (p.Gly27094=)
c.81081A= (p.Gly27027=)
c.80706A= (p.Gly26902=)
c.107901A= (p.Gly35967=)
c.102978A= (p.Gly34326=)
n.446+3451T=
n.219+3451T=
c.106998A= (p.Gly35666=)
c.80892A= (p.Gly26964=)
c.80751A= (p.Gly26917=)
c.106794A= (p.Gly35598=)
c.102192A= (p.Gly34064=)
c.102189A= (p.Gly34063=)
c.99231A= (p.Gly33077=)
c.80847A= (p.Gly26949=)
c.102342A= (p.Gly34114=)
c.102339A= (p.Gly34113=)
c.101772A= (p.Gly33924=)
c.99114A= (p.Gly33038=)
c.99033A= (p.Gly33011=)
c.80796A= (p.Gly26932=)
c.70650A= (p.Gly23550=)
2g.178527087_178527088insTTTGTACCATTTATTTTATGACA538089829TTN,TTN-AS1c.100196_100197insTCATAAAATAAATGGTACAAA (p.Gly33399_Leu33400insHisLysIleAsnGlyThrLys)
c.81281_81282insTCATAAAATAAATGGTACAAA (p.Gly27094_Leu27095insHisLysIleAsnGlyThrLys)
c.81080_81081insTCATAAAATAAATGGTACAAA (p.Gly27027_Leu27028insHisLysIleAsnGlyThrLys)
c.80705_80706insTCATAAAATAAATGGTACAAA (p.Gly26902_Leu26903insHisLysIleAsnGlyThrLys)
c.107900_107901insTCATAAAATAAATGGTACAAA (p.Gly35967_Leu35968insHisLysIleAsnGlyThrLys)
c.102977_102978insTCATAAAATAAATGGTACAAA (p.Gly34326_Leu34327insHisLysIleAsnGlyThrLys)
n.446+3451_446+3452insTTTGTACCATTTATTTTATGA
n.219+3451_219+3452insTTTGTACCATTTATTTTATGA
c.106997_106998insTCATAAAATAAATGGTACAAA (p.Gly35666_Leu35667insHisLysIleAsnGlyThrLys)
c.80891_80892insTCATAAAATAAATGGTACAAA (p.Gly26964_Leu26965insHisLysIleAsnGlyThrLys)
c.80750_80751insTCATAAAATAAATGGTACAAA (p.Gly26917_Leu26918insHisLysIleAsnGlyThrLys)
c.106793_106794insTCATAAAATAAATGGTACAAA (p.Gly35598_Leu35599insHisLysIleAsnGlyThrLys)
c.102191_102192insTCATAAAATAAATGGTACAAA (p.Gly34064_Leu34065insHisLysIleAsnGlyThrLys)
c.102188_102189insTCATAAAATAAATGGTACAAA (p.Gly34063_Leu34064insHisLysIleAsnGlyThrLys)
c.99230_99231insTCATAAAATAAATGGTACAAA (p.Gly33077_Leu33078insHisLysIleAsnGlyThrLys)
c.80846_80847insTCATAAAATAAATGGTACAAA (p.Gly26949_Leu26950insHisLysIleAsnGlyThrLys)
c.102341_102342insTCATAAAATAAATGGTACAAA (p.Gly34114_Leu34115insHisLysIleAsnGlyThrLys)
c.102338_102339insTCATAAAATAAATGGTACAAA (p.Gly34113_Leu34114insHisLysIleAsnGlyThrLys)
c.101771_101772insTCATAAAATAAATGGTACAAA (p.Gly33924_Leu33925insHisLysIleAsnGlyThrLys)
c.99113_99114insTCATAAAATAAATGGTACAAA (p.Gly33038_Leu33039insHisLysIleAsnGlyThrLys)
c.99032_99033insTCATAAAATAAATGGTACAAA (p.Gly33011_Leu33012insHisLysIleAsnGlyThrLys)
c.80795_80796insTCATAAAATAAATGGTACAAA (p.Gly26932_Leu26933insHisLysIleAsnGlyThrLys)
c.70649_70650insTCATAAAATAAATGGTACAAA (p.Gly23550_Leu23551insHisLysIleAsnGlyThrLys)
 gnomAD v2
2g.178527088C>ACA349398411TTN,TTN-AS1c.100196G>T (p.Gly33399Val)
c.81281G>T (p.Gly27094Val)
c.81080G>T (p.Gly27027Val)
c.80705G>T (p.Gly26902Val)
c.107900G>T (p.Gly35967Val)
c.102977G>T (p.Gly34326Val)
n.446+3452C>A
n.219+3452C>A
c.106997G>T (p.Gly35666Val)
c.80891G>T (p.Gly26964Val)
c.80750G>T (p.Gly26917Val)
c.106793G>T (p.Gly35598Val)
c.102191G>T (p.Gly34064Val)
c.102188G>T (p.Gly34063Val)
c.99230G>T (p.Gly33077Val)
c.80846G>T (p.Gly26949Val)
c.102341G>T (p.Gly34114Val)
c.102338G>T (p.Gly34113Val)
c.101771G>T (p.Gly33924Val)
c.99113G>T (p.Gly33038Val)
c.99032G>T (p.Gly33011Val)
c.80795G>T (p.Gly26932Val)
c.70649G>T (p.Gly23550Val)
2g.178527088C=CA1310514294TTN,TTN-AS1c.100196G= (p.Gly33399=)
c.81281G= (p.Gly27094=)
c.81080G= (p.Gly27027=)
c.80705G= (p.Gly26902=)
c.107900G= (p.Gly35967=)
c.102977G= (p.Gly34326=)
n.446+3452C=
n.219+3452C=
c.106997G= (p.Gly35666=)
c.80891G= (p.Gly26964=)
c.80750G= (p.Gly26917=)
c.106793G= (p.Gly35598=)
c.102191G= (p.Gly34064=)
c.102188G= (p.Gly34063=)
c.99230G= (p.Gly33077=)
c.80846G= (p.Gly26949=)
c.102341G= (p.Gly34114=)
c.102338G= (p.Gly34113=)
c.101771G= (p.Gly33924=)
c.99113G= (p.Gly33038=)
c.99032G= (p.Gly33011=)
c.80795G= (p.Gly26932=)
c.70649G= (p.Gly23550=)
2g.178527088C>GCA349398414TTN,TTN-AS1c.100196G>C (p.Gly33399Ala)
c.81281G>C (p.Gly27094Ala)
c.81080G>C (p.Gly27027Ala)
c.80705G>C (p.Gly26902Ala)
c.107900G>C (p.Gly35967Ala)
c.102977G>C (p.Gly34326Ala)
n.446+3452C>G
n.219+3452C>G
c.106997G>C (p.Gly35666Ala)
c.80891G>C (p.Gly26964Ala)
c.80750G>C (p.Gly26917Ala)
c.106793G>C (p.Gly35598Ala)
c.102191G>C (p.Gly34064Ala)
c.102188G>C (p.Gly34063Ala)
c.99230G>C (p.Gly33077Ala)
c.80846G>C (p.Gly26949Ala)
c.102341G>C (p.Gly34114Ala)
c.102338G>C (p.Gly34113Ala)
c.101771G>C (p.Gly33924Ala)
c.99113G>C (p.Gly33038Ala)
c.99032G>C (p.Gly33011Ala)
c.80795G>C (p.Gly26932Ala)
c.70649G>C (p.Gly23550Ala)
2g.178527088C>TCA1984860TTN,TTN-AS1c.100196G>A (p.Gly33399Glu)
c.81281G>A (p.Gly27094Glu)
c.81080G>A (p.Gly27027Glu)
c.80705G>A (p.Gly26902Glu)
c.107900G>A (p.Gly35967Glu)
c.102977G>A (p.Gly34326Glu)
n.446+3452C>T
n.219+3452C>T
c.106997G>A (p.Gly35666Glu)
c.80891G>A (p.Gly26964Glu)
c.80750G>A (p.Gly26917Glu)
c.106793G>A (p.Gly35598Glu)
c.102191G>A (p.Gly34064Glu)
c.102188G>A (p.Gly34063Glu)
c.99230G>A (p.Gly33077Glu)
c.80846G>A (p.Gly26949Glu)
c.102341G>A (p.Gly34114Glu)
c.102338G>A (p.Gly34113Glu)
c.101771G>A (p.Gly33924Glu)
c.99113G>A (p.Gly33038Glu)
c.99032G>A (p.Gly33011Glu)
c.80795G>A (p.Gly26932Glu)
c.70649G>A (p.Gly23550Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178527089C>ACA349398422TTN,TTN-AS1c.100195G>T (p.Gly33399Ter)
c.81280G>T (p.Gly27094Ter)
c.81079G>T (p.Gly27027Ter)
c.80704G>T (p.Gly26902Ter)
c.107899G>T (p.Gly35967Ter)
c.102976G>T (p.Gly34326Ter)
n.446+3453C>A
n.219+3453C>A
c.106996G>T (p.Gly35666Ter)
c.80890G>T (p.Gly26964Ter)
c.80749G>T (p.Gly26917Ter)
c.106792G>T (p.Gly35598Ter)
c.102190G>T (p.Gly34064Ter)
c.102187G>T (p.Gly34063Ter)
c.99229G>T (p.Gly33077Ter)
c.80845G>T (p.Gly26949Ter)
c.102340G>T (p.Gly34114Ter)
c.102337G>T (p.Gly34113Ter)
c.101770G>T (p.Gly33924Ter)
c.99112G>T (p.Gly33038Ter)
c.99031G>T (p.Gly33011Ter)
c.80794G>T (p.Gly26932Ter)
c.70648G>T (p.Gly23550Ter)
2g.178527089C>GCA349398417TTN,TTN-AS1c.100195G>C (p.Gly33399Arg)
c.81280G>C (p.Gly27094Arg)
c.81079G>C (p.Gly27027Arg)
c.80704G>C (p.Gly26902Arg)
c.107899G>C (p.Gly35967Arg)
c.102976G>C (p.Gly34326Arg)
n.446+3453C>G
n.219+3453C>G
c.106996G>C (p.Gly35666Arg)
c.80890G>C (p.Gly26964Arg)
c.80749G>C (p.Gly26917Arg)
c.106792G>C (p.Gly35598Arg)
c.102190G>C (p.Gly34064Arg)
c.102187G>C (p.Gly34063Arg)
c.99229G>C (p.Gly33077Arg)
c.80845G>C (p.Gly26949Arg)
c.102340G>C (p.Gly34114Arg)
c.102337G>C (p.Gly34113Arg)
c.101770G>C (p.Gly33924Arg)
c.99112G>C (p.Gly33038Arg)
c.99031G>C (p.Gly33011Arg)
c.80794G>C (p.Gly26932Arg)
c.70648G>C (p.Gly23550Arg)
2g.178527089C>TCA349398419TTN,TTN-AS1c.100195G>A (p.Gly33399Arg)
c.81280G>A (p.Gly27094Arg)
c.81079G>A (p.Gly27027Arg)
c.80704G>A (p.Gly26902Arg)
c.107899G>A (p.Gly35967Arg)
c.102976G>A (p.Gly34326Arg)
n.446+3453C>T
n.219+3453C>T
c.106996G>A (p.Gly35666Arg)
c.80890G>A (p.Gly26964Arg)
c.80749G>A (p.Gly26917Arg)
c.106792G>A (p.Gly35598Arg)
c.102190G>A (p.Gly34064Arg)
c.102187G>A (p.Gly34063Arg)
c.99229G>A (p.Gly33077Arg)
c.80845G>A (p.Gly26949Arg)
c.102340G>A (p.Gly34114Arg)
c.102337G>A (p.Gly34113Arg)
c.101770G>A (p.Gly33924Arg)
c.99112G>A (p.Gly33038Arg)
c.99031G>A (p.Gly33011Arg)
c.80794G>A (p.Gly26932Arg)
c.70648G>A (p.Gly23550Arg)
 gnomAD v4
2g.178527090A>CCA430091622TTN,TTN-AS1c.100194T>G (p.Gly33398=)
c.81279T>G (p.Gly27093=)
c.81078T>G (p.Gly27026=)
c.80703T>G (p.Gly26901=)
c.107898T>G (p.Gly35966=)
c.102975T>G (p.Gly34325=)
n.446+3454A>C
n.219+3454A>C
c.106995T>G (p.Gly35665=)
c.80889T>G (p.Gly26963=)
c.80748T>G (p.Gly26916=)
c.106791T>G (p.Gly35597=)
c.102189T>G (p.Gly34063=)
c.102186T>G (p.Gly34062=)
c.99228T>G (p.Gly33076=)
c.80844T>G (p.Gly26948=)
c.102339T>G (p.Gly34113=)
c.102336T>G (p.Gly34112=)
c.101769T>G (p.Gly33923=)
c.99111T>G (p.Gly33037=)
c.99030T>G (p.Gly33010=)
c.80793T>G (p.Gly26931=)
c.70647T>G (p.Gly23549=)
2g.178527090A>GCA430091625TTN,TTN-AS1c.100194T>C (p.Gly33398=)
c.81279T>C (p.Gly27093=)
c.81078T>C (p.Gly27026=)
c.80703T>C (p.Gly26901=)
c.107898T>C (p.Gly35966=)
c.102975T>C (p.Gly34325=)
n.446+3454A>G
n.219+3454A>G
c.106995T>C (p.Gly35665=)
c.80889T>C (p.Gly26963=)
c.80748T>C (p.Gly26916=)
c.106791T>C (p.Gly35597=)
c.102189T>C (p.Gly34063=)
c.102186T>C (p.Gly34062=)
c.99228T>C (p.Gly33076=)
c.80844T>C (p.Gly26948=)
c.102339T>C (p.Gly34113=)
c.102336T>C (p.Gly34112=)
c.101769T>C (p.Gly33923=)
c.99111T>C (p.Gly33037=)
c.99030T>C (p.Gly33010=)
c.80793T>C (p.Gly26931=)
c.70647T>C (p.Gly23549=)
2g.178527090A>TCA430091627TTN,TTN-AS1c.100194T>A (p.Gly33398=)
c.81279T>A (p.Gly27093=)
c.81078T>A (p.Gly27026=)
c.80703T>A (p.Gly26901=)
c.107898T>A (p.Gly35966=)
c.102975T>A (p.Gly34325=)
n.446+3454A>T
n.219+3454A>T
c.106995T>A (p.Gly35665=)
c.80889T>A (p.Gly26963=)
c.80748T>A (p.Gly26916=)
c.106791T>A (p.Gly35597=)
c.102189T>A (p.Gly34063=)
c.102186T>A (p.Gly34062=)
c.99228T>A (p.Gly33076=)
c.80844T>A (p.Gly26948=)
c.102339T>A (p.Gly34113=)
c.102336T>A (p.Gly34112=)
c.101769T>A (p.Gly33923=)
c.99111T>A (p.Gly33037=)
c.99030T>A (p.Gly33010=)
c.80793T>A (p.Gly26931=)
c.70647T>A (p.Gly23549=)
 ClinVar
2g.178527090_178527096delinsACCATCTCA1310514295TTN,TTN-AS1c.100188_100194delinsAGATGGT (p.Gln33396=)
c.81273_81279delinsAGATGGT (p.Gln27091=)
c.81072_81078delinsAGATGGT (p.Gln27024=)
c.80697_80703delinsAGATGGT (p.Gln26899=)
c.107892_107898delinsAGATGGT (p.Gln35964=)
c.102969_102975delinsAGATGGT (p.Gln34323=)
n.446+3454_446+3460delinsACCATCT
n.219+3454_219+3460delinsACCATCT
c.106989_106995delinsAGATGGT (p.Gln35663=)
c.80883_80889delinsAGATGGT (p.Gln26961=)
c.80742_80748delinsAGATGGT (p.Gln26914=)
c.106785_106791delinsAGATGGT (p.Gln35595=)
c.102183_102189delinsAGATGGT (p.Gln34061=)
c.102180_102186delinsAGATGGT (p.Gln34060=)
c.99222_99228delinsAGATGGT (p.Gln33074=)
c.80838_80844delinsAGATGGT (p.Gln26946=)
c.102333_102339delinsAGATGGT (p.Gln34111=)
c.102330_102336delinsAGATGGT (p.Gln34110=)
c.101763_101769delinsAGATGGT (p.Gln33921=)
c.99105_99111delinsAGATGGT (p.Gln33035=)
c.99024_99030delinsAGATGGT (p.Gln33008=)
c.80787_80793delinsAGATGGT (p.Gln26929=)
c.70641_70647delinsAGATGGT (p.Gln23547=)
2g.178527091C>ACA349398425TTN,TTN-AS1c.100193G>T (p.Gly33398Val)
c.81278G>T (p.Gly27093Val)
c.81077G>T (p.Gly27026Val)
c.80702G>T (p.Gly26901Val)
c.107897G>T (p.Gly35966Val)
c.102974G>T (p.Gly34325Val)
n.446+3455C>A
n.219+3455C>A
c.106994G>T (p.Gly35665Val)
c.80888G>T (p.Gly26963Val)
c.80747G>T (p.Gly26916Val)
c.106790G>T (p.Gly35597Val)
c.102188G>T (p.Gly34063Val)
c.102185G>T (p.Gly34062Val)
c.99227G>T (p.Gly33076Val)
c.80843G>T (p.Gly26948Val)
c.102338G>T (p.Gly34113Val)
c.102335G>T (p.Gly34112Val)
c.101768G>T (p.Gly33923Val)
c.99110G>T (p.Gly33037Val)
c.99029G>T (p.Gly33010Val)
c.80792G>T (p.Gly26931Val)
c.70646G>T (p.Gly23549Val)
2g.178527091C=CA1310514296TTN,TTN-AS1c.100193G= (p.Gly33398=)
c.81278G= (p.Gly27093=)
c.81077G= (p.Gly27026=)
c.80702G= (p.Gly26901=)
c.107897G= (p.Gly35966=)
c.102974G= (p.Gly34325=)
n.446+3455C=
n.219+3455C=
c.106994G= (p.Gly35665=)
c.80888G= (p.Gly26963=)
c.80747G= (p.Gly26916=)
c.106790G= (p.Gly35597=)
c.102188G= (p.Gly34063=)
c.102185G= (p.Gly34062=)
c.99227G= (p.Gly33076=)
c.80843G= (p.Gly26948=)
c.102338G= (p.Gly34113=)
c.102335G= (p.Gly34112=)
c.101768G= (p.Gly33923=)
c.99110G= (p.Gly33037=)
c.99029G= (p.Gly33010=)
c.80792G= (p.Gly26931=)
c.70646G= (p.Gly23549=)
2g.178527091C>GCA349398430TTN,TTN-AS1c.100193G>C (p.Gly33398Ala)
c.81278G>C (p.Gly27093Ala)
c.81077G>C (p.Gly27026Ala)
c.80702G>C (p.Gly26901Ala)
c.107897G>C (p.Gly35966Ala)
c.102974G>C (p.Gly34325Ala)
n.446+3455C>G
n.219+3455C>G
c.106994G>C (p.Gly35665Ala)
c.80888G>C (p.Gly26963Ala)
c.80747G>C (p.Gly26916Ala)
c.106790G>C (p.Gly35597Ala)
c.102188G>C (p.Gly34063Ala)
c.102185G>C (p.Gly34062Ala)
c.99227G>C (p.Gly33076Ala)
c.80843G>C (p.Gly26948Ala)
c.102338G>C (p.Gly34113Ala)
c.102335G>C (p.Gly34112Ala)
c.101768G>C (p.Gly33923Ala)
c.99110G>C (p.Gly33037Ala)
c.99029G>C (p.Gly33010Ala)
c.80792G>C (p.Gly26931Ala)
c.70646G>C (p.Gly23549Ala)
2g.178527091C>TCA184814TTN,TTN-AS1c.100193G>A (p.Gly33398Asp)
c.81278G>A (p.Gly27093Asp)
c.81077G>A (p.Gly27026Asp)
c.80702G>A (p.Gly26901Asp)
c.107897G>A (p.Gly35966Asp)
c.102974G>A (p.Gly34325Asp)
n.446+3455C>T
n.219+3455C>T
c.106994G>A (p.Gly35665Asp)
c.80888G>A (p.Gly26963Asp)
c.80747G>A (p.Gly26916Asp)
c.106790G>A (p.Gly35597Asp)
c.102188G>A (p.Gly34063Asp)
c.102185G>A (p.Gly34062Asp)
c.99227G>A (p.Gly33076Asp)
c.80843G>A (p.Gly26948Asp)
c.102338G>A (p.Gly34113Asp)
c.102335G>A (p.Gly34112Asp)
c.101768G>A (p.Gly33923Asp)
c.99110G>A (p.Gly33037Asp)
c.99029G>A (p.Gly33010Asp)
c.80792G>A (p.Gly26931Asp)
c.70646G>A (p.Gly23549Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.178527091_178527096delCA343096TTN,TTN-AS1c.100188_100193del (p.Gln33396_Gly33398delinsHis)
c.81273_81278del (p.Gln27091_Gly27093delinsHis)
c.81072_81077del (p.Gln27024_Gly27026delinsHis)
c.80697_80702del (p.Gln26899_Gly26901delinsHis)
c.107892_107897del (p.Gln35964_Gly35966delinsHis)
c.102969_102974del (p.Gln34323_Gly34325delinsHis)
n.446+3455_446+3460del
n.219+3455_219+3460del
c.106989_106994del (p.Gln35663_Gly35665delinsHis)
c.80883_80888del (p.Gln26961_Gly26963delinsHis)
c.80742_80747del (p.Gln26914_Gly26916delinsHis)
c.106785_106790del (p.Gln35595_Gly35597delinsHis)
c.102183_102188del (p.Gln34061_Gly34063delinsHis)
c.102180_102185del (p.Gln34060_Gly34062delinsHis)
c.99222_99227del (p.Gln33074_Gly33076delinsHis)
c.80838_80843del (p.Gln26946_Gly26948delinsHis)
c.102333_102338del (p.Gln34111_Gly34113delinsHis)
c.102330_102335del (p.Gln34110_Gly34112delinsHis)
c.101763_101768del (p.Gln33921_Gly33923delinsHis)
c.99105_99110del (p.Gln33035_Gly33037delinsHis)
c.99024_99029del (p.Gln33008_Gly33010delinsHis)
c.80787_80792del (p.Gln26929_Gly26931delinsHis)
c.70641_70646del (p.Gln23547_Gly23549delinsHis)
 ClinVar dbSNP
2g.178527092C>ACA349398433TTN,TTN-AS1c.100192G>T (p.Gly33398Cys)
c.81277G>T (p.Gly27093Cys)
c.81076G>T (p.Gly27026Cys)
c.80701G>T (p.Gly26901Cys)
c.107896G>T (p.Gly35966Cys)
c.102973G>T (p.Gly34325Cys)
n.446+3456C>A
n.219+3456C>A
c.106993G>T (p.Gly35665Cys)
c.80887G>T (p.Gly26963Cys)
c.80746G>T (p.Gly26916Cys)
c.106789G>T (p.Gly35597Cys)
c.102187G>T (p.Gly34063Cys)
c.102184G>T (p.Gly34062Cys)
c.99226G>T (p.Gly33076Cys)
c.80842G>T (p.Gly26948Cys)
c.102337G>T (p.Gly34113Cys)
c.102334G>T (p.Gly34112Cys)
c.101767G>T (p.Gly33923Cys)
c.99109G>T (p.Gly33037Cys)
c.99028G>T (p.Gly33010Cys)
c.80791G>T (p.Gly26931Cys)
c.70645G>T (p.Gly23549Cys)
2g.178527092C=CA1310514297TTN,TTN-AS1c.100192G= (p.Gly33398=)
c.81277G= (p.Gly27093=)
c.81076G= (p.Gly27026=)
c.80701G= (p.Gly26901=)
c.107896G= (p.Gly35966=)
c.102973G= (p.Gly34325=)
n.446+3456C=
n.219+3456C=
c.106993G= (p.Gly35665=)
c.80887G= (p.Gly26963=)
c.80746G= (p.Gly26916=)
c.106789G= (p.Gly35597=)
c.102187G= (p.Gly34063=)
c.102184G= (p.Gly34062=)
c.99226G= (p.Gly33076=)
c.80842G= (p.Gly26948=)
c.102337G= (p.Gly34113=)
c.102334G= (p.Gly34112=)
c.101767G= (p.Gly33923=)
c.99109G= (p.Gly33037=)
c.99028G= (p.Gly33010=)
c.80791G= (p.Gly26931=)
c.70645G= (p.Gly23549=)
2g.178527092C>GCA349398436TTN,TTN-AS1c.100192G>C (p.Gly33398Arg)
c.81277G>C (p.Gly27093Arg)
c.81076G>C (p.Gly27026Arg)
c.80701G>C (p.Gly26901Arg)
c.107896G>C (p.Gly35966Arg)
c.102973G>C (p.Gly34325Arg)
n.446+3456C>G
n.219+3456C>G
c.106993G>C (p.Gly35665Arg)
c.80887G>C (p.Gly26963Arg)
c.80746G>C (p.Gly26916Arg)
c.106789G>C (p.Gly35597Arg)
c.102187G>C (p.Gly34063Arg)
c.102184G>C (p.Gly34062Arg)
c.99226G>C (p.Gly33076Arg)
c.80842G>C (p.Gly26948Arg)
c.102337G>C (p.Gly34113Arg)
c.102334G>C (p.Gly34112Arg)
c.101767G>C (p.Gly33923Arg)
c.99109G>C (p.Gly33037Arg)
c.99028G>C (p.Gly33010Arg)
c.80791G>C (p.Gly26931Arg)
c.70645G>C (p.Gly23549Arg)
2g.178527092C>TCA1984861TTN,TTN-AS1c.100192G>A (p.Gly33398Ser)
c.81277G>A (p.Gly27093Ser)
c.81076G>A (p.Gly27026Ser)
c.80701G>A (p.Gly26901Ser)
c.107896G>A (p.Gly35966Ser)
c.102973G>A (p.Gly34325Ser)
n.446+3456C>T
n.219+3456C>T
c.106993G>A (p.Gly35665Ser)
c.80887G>A (p.Gly26963Ser)
c.80746G>A (p.Gly26916Ser)
c.106789G>A (p.Gly35597Ser)
c.102187G>A (p.Gly34063Ser)
c.102184G>A (p.Gly34062Ser)
c.99226G>A (p.Gly33076Ser)
c.80842G>A (p.Gly26948Ser)
c.102337G>A (p.Gly34113Ser)
c.102334G>A (p.Gly34112Ser)
c.101767G>A (p.Gly33923Ser)
c.99109G>A (p.Gly33037Ser)
c.99028G>A (p.Gly33010Ser)
c.80791G>A (p.Gly26931Ser)
c.70645G>A (p.Gly23549Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178527093A=CA1310514298TTN,TTN-AS1c.100191T= (p.Asp33397=)
c.81276T= (p.Asp27092=)
c.81075T= (p.Asp27025=)
c.80700T= (p.Asp26900=)
c.107895T= (p.Asp35965=)
c.102972T= (p.Asp34324=)
n.446+3457A=
n.219+3457A=
c.106992T= (p.Asp35664=)
c.80886T= (p.Asp26962=)
c.80745T= (p.Asp26915=)
c.106788T= (p.Asp35596=)
c.102186T= (p.Asp34062=)
c.102183T= (p.Asp34061=)
c.99225T= (p.Asp33075=)
c.80841T= (p.Asp26947=)
c.102336T= (p.Asp34112=)
c.102333T= (p.Asp34111=)
c.101766T= (p.Asp33922=)
c.99108T= (p.Asp33036=)
c.99027T= (p.Asp33009=)
c.80790T= (p.Asp26930=)
c.70644T= (p.Asp23548=)
2g.178527093A>CCA349398441TTN,TTN-AS1c.100191T>G (p.Asp33397Glu)
c.81276T>G (p.Asp27092Glu)
c.81075T>G (p.Asp27025Glu)
c.80700T>G (p.Asp26900Glu)
c.107895T>G (p.Asp35965Glu)
c.102972T>G (p.Asp34324Glu)
n.446+3457A>C
n.219+3457A>C
c.106992T>G (p.Asp35664Glu)
c.80886T>G (p.Asp26962Glu)
c.80745T>G (p.Asp26915Glu)
c.106788T>G (p.Asp35596Glu)
c.102186T>G (p.Asp34062Glu)
c.102183T>G (p.Asp34061Glu)
c.99225T>G (p.Asp33075Glu)
c.80841T>G (p.Asp26947Glu)
c.102336T>G (p.Asp34112Glu)
c.102333T>G (p.Asp34111Glu)
c.101766T>G (p.Asp33922Glu)
c.99108T>G (p.Asp33036Glu)
c.99027T>G (p.Asp33009Glu)
c.80790T>G (p.Asp26930Glu)
c.70644T>G (p.Asp23548Glu)
2g.178527093A>GCA430091641TTN,TTN-AS1c.100191T>C (p.Asp33397=)
c.81276T>C (p.Asp27092=)
c.81075T>C (p.Asp27025=)
c.80700T>C (p.Asp26900=)
c.107895T>C (p.Asp35965=)
c.102972T>C (p.Asp34324=)
n.446+3457A>G
n.219+3457A>G
c.106992T>C (p.Asp35664=)
c.80886T>C (p.Asp26962=)
c.80745T>C (p.Asp26915=)
c.106788T>C (p.Asp35596=)
c.102186T>C (p.Asp34062=)
c.102183T>C (p.Asp34061=)
c.99225T>C (p.Asp33075=)
c.80841T>C (p.Asp26947=)
c.102336T>C (p.Asp34112=)
c.102333T>C (p.Asp34111=)
c.101766T>C (p.Asp33922=)
c.99108T>C (p.Asp33036=)
c.99027T>C (p.Asp33009=)
c.80790T>C (p.Asp26930=)
c.70644T>C (p.Asp23548=)
 ClinVar dbSNP
2g.178527093A>TCA349398444TTN,TTN-AS1c.100191T>A (p.Asp33397Glu)
c.81276T>A (p.Asp27092Glu)
c.81075T>A (p.Asp27025Glu)
c.80700T>A (p.Asp26900Glu)
c.107895T>A (p.Asp35965Glu)
c.102972T>A (p.Asp34324Glu)
n.446+3457A>T
n.219+3457A>T
c.106992T>A (p.Asp35664Glu)
c.80886T>A (p.Asp26962Glu)
c.80745T>A (p.Asp26915Glu)
c.106788T>A (p.Asp35596Glu)
c.102186T>A (p.Asp34062Glu)
c.102183T>A (p.Asp34061Glu)
c.99225T>A (p.Asp33075Glu)
c.80841T>A (p.Asp26947Glu)
c.102336T>A (p.Asp34112Glu)
c.102333T>A (p.Asp34111Glu)
c.101766T>A (p.Asp33922Glu)
c.99108T>A (p.Asp33036Glu)
c.99027T>A (p.Asp33009Glu)
c.80790T>A (p.Asp26930Glu)
c.70644T>A (p.Asp23548Glu)
2g.178527094T>ACA349398446TTN,TTN-AS1c.100190A>T (p.Asp33397Val)
c.81275A>T (p.Asp27092Val)
c.81074A>T (p.Asp27025Val)
c.80699A>T (p.Asp26900Val)
c.107894A>T (p.Asp35965Val)
c.102971A>T (p.Asp34324Val)
n.446+3458T>A
n.219+3458T>A
c.106991A>T (p.Asp35664Val)
c.80885A>T (p.Asp26962Val)
c.80744A>T (p.Asp26915Val)
c.106787A>T (p.Asp35596Val)
c.102185A>T (p.Asp34062Val)
c.102182A>T (p.Asp34061Val)
c.99224A>T (p.Asp33075Val)
c.80840A>T (p.Asp26947Val)
c.102335A>T (p.Asp34112Val)
c.102332A>T (p.Asp34111Val)
c.101765A>T (p.Asp33922Val)
c.99107A>T (p.Asp33036Val)
c.99026A>T (p.Asp33009Val)
c.80789A>T (p.Asp26930Val)
c.70643A>T (p.Asp23548Val)
2g.178527094T>CCA10604691TTN,TTN-AS1c.100190A>G (p.Asp33397Gly)
c.81275A>G (p.Asp27092Gly)
c.81074A>G (p.Asp27025Gly)
c.80699A>G (p.Asp26900Gly)
c.107894A>G (p.Asp35965Gly)
c.102971A>G (p.Asp34324Gly)
n.446+3458T>C
n.219+3458T>C
c.106991A>G (p.Asp35664Gly)
c.80885A>G (p.Asp26962Gly)
c.80744A>G (p.Asp26915Gly)
c.106787A>G (p.Asp35596Gly)
c.102185A>G (p.Asp34062Gly)
c.102182A>G (p.Asp34061Gly)
c.99224A>G (p.Asp33075Gly)
c.80840A>G (p.Asp26947Gly)
c.102335A>G (p.Asp34112Gly)
c.102332A>G (p.Asp34111Gly)
c.101765A>G (p.Asp33922Gly)
c.99107A>G (p.Asp33036Gly)
c.99026A>G (p.Asp33009Gly)
c.80789A>G (p.Asp26930Gly)
c.70643A>G (p.Asp23548Gly)
 ClinVar dbSNP
2g.178527094T>GCA349398450TTN,TTN-AS1c.100190A>C (p.Asp33397Ala)
c.81275A>C (p.Asp27092Ala)
c.81074A>C (p.Asp27025Ala)
c.80699A>C (p.Asp26900Ala)
c.107894A>C (p.Asp35965Ala)
c.102971A>C (p.Asp34324Ala)
n.446+3458T>G
n.219+3458T>G
c.106991A>C (p.Asp35664Ala)
c.80885A>C (p.Asp26962Ala)
c.80744A>C (p.Asp26915Ala)
c.106787A>C (p.Asp35596Ala)
c.102185A>C (p.Asp34062Ala)
c.102182A>C (p.Asp34061Ala)
c.99224A>C (p.Asp33075Ala)
c.80840A>C (p.Asp26947Ala)
c.102335A>C (p.Asp34112Ala)
c.102332A>C (p.Asp34111Ala)
c.101765A>C (p.Asp33922Ala)
c.99107A>C (p.Asp33036Ala)
c.99026A>C (p.Asp33009Ala)
c.80789A>C (p.Asp26930Ala)
c.70643A>C (p.Asp23548Ala)
2g.178527094T=CA1310514299TTN,TTN-AS1c.100190A= (p.Asp33397=)
c.81275A= (p.Asp27092=)
c.81074A= (p.Asp27025=)
c.80699A= (p.Asp26900=)
c.107894A= (p.Asp35965=)
c.102971A= (p.Asp34324=)
n.446+3458T=
n.219+3458T=
c.106991A= (p.Asp35664=)
c.80885A= (p.Asp26962=)
c.80744A= (p.Asp26915=)
c.106787A= (p.Asp35596=)
c.102185A= (p.Asp34062=)
c.102182A= (p.Asp34061=)
c.99224A= (p.Asp33075=)
c.80840A= (p.Asp26947=)
c.102335A= (p.Asp34112=)
c.102332A= (p.Asp34111=)
c.101765A= (p.Asp33922=)
c.99107A= (p.Asp33036=)
c.99026A= (p.Asp33009=)
c.80789A= (p.Asp26930=)
c.70643A= (p.Asp23548=)
2g.178527095C>ACA349398454TTN,TTN-AS1c.100189G>T (p.Asp33397Tyr)
c.81274G>T (p.Asp27092Tyr)
c.81073G>T (p.Asp27025Tyr)
c.80698G>T (p.Asp26900Tyr)
c.107893G>T (p.Asp35965Tyr)
c.102970G>T (p.Asp34324Tyr)
n.446+3459C>A
n.219+3459C>A
c.106990G>T (p.Asp35664Tyr)
c.80884G>T (p.Asp26962Tyr)
c.80743G>T (p.Asp26915Tyr)
c.106786G>T (p.Asp35596Tyr)
c.102184G>T (p.Asp34062Tyr)
c.102181G>T (p.Asp34061Tyr)
c.99223G>T (p.Asp33075Tyr)
c.80839G>T (p.Asp26947Tyr)
c.102334G>T (p.Asp34112Tyr)
c.102331G>T (p.Asp34111Tyr)
c.101764G>T (p.Asp33922Tyr)
c.99106G>T (p.Asp33036Tyr)
c.99025G>T (p.Asp33009Tyr)
c.80788G>T (p.Asp26930Tyr)
c.70642G>T (p.Asp23548Tyr)
2g.178527095C>GCA349398456TTN,TTN-AS1c.100189G>C (p.Asp33397His)
c.81274G>C (p.Asp27092His)
c.81073G>C (p.Asp27025His)
c.80698G>C (p.Asp26900His)
c.107893G>C (p.Asp35965His)
c.102970G>C (p.Asp34324His)
n.446+3459C>G
n.219+3459C>G
c.106990G>C (p.Asp35664His)
c.80884G>C (p.Asp26962His)
c.80743G>C (p.Asp26915His)
c.106786G>C (p.Asp35596His)
c.102184G>C (p.Asp34062His)
c.102181G>C (p.Asp34061His)
c.99223G>C (p.Asp33075His)
c.80839G>C (p.Asp26947His)
c.102334G>C (p.Asp34112His)
c.102331G>C (p.Asp34111His)
c.101764G>C (p.Asp33922His)
c.99106G>C (p.Asp33036His)
c.99025G>C (p.Asp33009His)
c.80788G>C (p.Asp26930His)
c.70642G>C (p.Asp23548His)
2g.178527095C>TCA349398458TTN,TTN-AS1c.100189G>A (p.Asp33397Asn)
c.81274G>A (p.Asp27092Asn)
c.81073G>A (p.Asp27025Asn)
c.80698G>A (p.Asp26900Asn)
c.107893G>A (p.Asp35965Asn)
c.102970G>A (p.Asp34324Asn)
n.446+3459C>T
n.219+3459C>T
c.106990G>A (p.Asp35664Asn)
c.80884G>A (p.Asp26962Asn)
c.80743G>A (p.Asp26915Asn)
c.106786G>A (p.Asp35596Asn)
c.102184G>A (p.Asp34062Asn)
c.102181G>A (p.Asp34061Asn)
c.99223G>A (p.Asp33075Asn)
c.80839G>A (p.Asp26947Asn)
c.102334G>A (p.Asp34112Asn)
c.102331G>A (p.Asp34111Asn)
c.101764G>A (p.Asp33922Asn)
c.99106G>A (p.Asp33036Asn)
c.99025G>A (p.Asp33009Asn)
c.80788G>A (p.Asp26930Asn)
c.70642G>A (p.Asp23548Asn)
 COSMIC COSMIC COSMIC COSMIC
2g.178527096T>ACA349398459TTN,TTN-AS1c.100188A>T (p.Gln33396His)
c.81273A>T (p.Gln27091His)
c.81072A>T (p.Gln27024His)
c.80697A>T (p.Gln26899His)
c.107892A>T (p.Gln35964His)
c.102969A>T (p.Gln34323His)
n.446+3460T>A
n.219+3460T>A
c.106989A>T (p.Gln35663His)
c.80883A>T (p.Gln26961His)
c.80742A>T (p.Gln26914His)
c.106785A>T (p.Gln35595His)
c.102183A>T (p.Gln34061His)
c.102180A>T (p.Gln34060His)
c.99222A>T (p.Gln33074His)
c.80838A>T (p.Gln26946His)
c.102333A>T (p.Gln34111His)
c.102330A>T (p.Gln34110His)
c.101763A>T (p.Gln33921His)
c.99105A>T (p.Gln33035His)
c.99024A>T (p.Gln33008His)
c.80787A>T (p.Gln26929His)
c.70641A>T (p.Gln23547His)
2g.178527096T>CCA430091657TTN,TTN-AS1c.100188A>G (p.Gln33396=)
c.81273A>G (p.Gln27091=)
c.81072A>G (p.Gln27024=)
c.80697A>G (p.Gln26899=)
c.107892A>G (p.Gln35964=)
c.102969A>G (p.Gln34323=)
n.446+3460T>C
n.219+3460T>C
c.106989A>G (p.Gln35663=)
c.80883A>G (p.Gln26961=)
c.80742A>G (p.Gln26914=)
c.106785A>G (p.Gln35595=)
c.102183A>G (p.Gln34061=)
c.102180A>G (p.Gln34060=)
c.99222A>G (p.Gln33074=)
c.80838A>G (p.Gln26946=)
c.102333A>G (p.Gln34111=)
c.102330A>G (p.Gln34110=)
c.101763A>G (p.Gln33921=)
c.99105A>G (p.Gln33035=)
c.99024A>G (p.Gln33008=)
c.80787A>G (p.Gln26929=)
c.70641A>G (p.Gln23547=)
2g.178527096T>GCA349398460TTN,TTN-AS1c.100188A>C (p.Gln33396His)
c.81273A>C (p.Gln27091His)
c.81072A>C (p.Gln27024His)
c.80697A>C (p.Gln26899His)
c.107892A>C (p.Gln35964His)
c.102969A>C (p.Gln34323His)
n.446+3460T>G
n.219+3460T>G
c.106989A>C (p.Gln35663His)
c.80883A>C (p.Gln26961His)
c.80742A>C (p.Gln26914His)
c.106785A>C (p.Gln35595His)
c.102183A>C (p.Gln34061His)
c.102180A>C (p.Gln34060His)
c.99222A>C (p.Gln33074His)
c.80838A>C (p.Gln26946His)
c.102333A>C (p.Gln34111His)
c.102330A>C (p.Gln34110His)
c.101763A>C (p.Gln33921His)
c.99105A>C (p.Gln33035His)
c.99024A>C (p.Gln33008His)
c.80787A>C (p.Gln26929His)
c.70641A>C (p.Gln23547His)

Number of alleles fetched