Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.178566261A=CA1310529440TTN,TTN-AS1c.72167T= (p.Ile24056=)
c.53252T= (p.Ile17751=)
c.53051T= (p.Ile17684=)
c.52676T= (p.Ile17559=)
c.79871T= (p.Ile26624=)
c.74948T= (p.Ile24983=)
n.447-5039A=
n.2044-16311A=
c.78968T= (p.Ile26323=)
c.52862T= (p.Ile17621=)
c.52721T= (p.Ile17574=)
c.78764T= (p.Ile26255=)
c.74162T= (p.Ile24721=)
c.74159T= (p.Ile24720=)
c.71201T= (p.Ile23734=)
c.52817T= (p.Ile17606=)
c.74312T= (p.Ile24771=)
c.74309T= (p.Ile24770=)
c.73742T= (p.Ile24581=)
c.71084T= (p.Ile23695=)
c.71003T= (p.Ile23668=)
c.52766T= (p.Ile17589=)
c.42620T= (p.Ile14207=)
2g.178566261A>CCA349593225TTN,TTN-AS1c.72167T>G (p.Ile24056Ser)
c.53252T>G (p.Ile17751Ser)
c.53051T>G (p.Ile17684Ser)
c.52676T>G (p.Ile17559Ser)
c.79871T>G (p.Ile26624Ser)
c.74948T>G (p.Ile24983Ser)
n.447-5039A>C
n.2044-16311A>C
c.78968T>G (p.Ile26323Ser)
c.52862T>G (p.Ile17621Ser)
c.52721T>G (p.Ile17574Ser)
c.78764T>G (p.Ile26255Ser)
c.74162T>G (p.Ile24721Ser)
c.74159T>G (p.Ile24720Ser)
c.71201T>G (p.Ile23734Ser)
c.52817T>G (p.Ile17606Ser)
c.74312T>G (p.Ile24771Ser)
c.74309T>G (p.Ile24770Ser)
c.73742T>G (p.Ile24581Ser)
c.71084T>G (p.Ile23695Ser)
c.71003T>G (p.Ile23668Ser)
c.52766T>G (p.Ile17589Ser)
c.42620T>G (p.Ile14207Ser)
 gnomAD v4
2g.178566261A>GCA349593226TTN,TTN-AS1c.72167T>C (p.Ile24056Thr)
c.53252T>C (p.Ile17751Thr)
c.53051T>C (p.Ile17684Thr)
c.52676T>C (p.Ile17559Thr)
c.79871T>C (p.Ile26624Thr)
c.74948T>C (p.Ile24983Thr)
n.447-5039A>G
n.2044-16311A>G
c.78968T>C (p.Ile26323Thr)
c.52862T>C (p.Ile17621Thr)
c.52721T>C (p.Ile17574Thr)
c.78764T>C (p.Ile26255Thr)
c.74162T>C (p.Ile24721Thr)
c.74159T>C (p.Ile24720Thr)
c.71201T>C (p.Ile23734Thr)
c.52817T>C (p.Ile17606Thr)
c.74312T>C (p.Ile24771Thr)
c.74309T>C (p.Ile24770Thr)
c.73742T>C (p.Ile24581Thr)
c.71084T>C (p.Ile23695Thr)
c.71003T>C (p.Ile23668Thr)
c.52766T>C (p.Ile17589Thr)
c.42620T>C (p.Ile14207Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.178566261A>TCA60989655TTN,TTN-AS1c.72167T>A (p.Ile24056Asn)
c.53252T>A (p.Ile17751Asn)
c.53051T>A (p.Ile17684Asn)
c.52676T>A (p.Ile17559Asn)
c.79871T>A (p.Ile26624Asn)
c.74948T>A (p.Ile24983Asn)
n.447-5039A>T
n.2044-16311A>T
c.78968T>A (p.Ile26323Asn)
c.52862T>A (p.Ile17621Asn)
c.52721T>A (p.Ile17574Asn)
c.78764T>A (p.Ile26255Asn)
c.74162T>A (p.Ile24721Asn)
c.74159T>A (p.Ile24720Asn)
c.71201T>A (p.Ile23734Asn)
c.52817T>A (p.Ile17606Asn)
c.74312T>A (p.Ile24771Asn)
c.74309T>A (p.Ile24770Asn)
c.73742T>A (p.Ile24581Asn)
c.71084T>A (p.Ile23695Asn)
c.71003T>A (p.Ile23668Asn)
c.52766T>A (p.Ile17589Asn)
c.42620T>A (p.Ile14207Asn)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.178566262T>ACA349593236TTN,TTN-AS1c.72166A>T (p.Ile24056Phe)
c.53251A>T (p.Ile17751Phe)
c.53050A>T (p.Ile17684Phe)
c.52675A>T (p.Ile17559Phe)
c.79870A>T (p.Ile26624Phe)
c.74947A>T (p.Ile24983Phe)
n.447-5038T>A
n.2044-16310T>A
c.78967A>T (p.Ile26323Phe)
c.52861A>T (p.Ile17621Phe)
c.52720A>T (p.Ile17574Phe)
c.78763A>T (p.Ile26255Phe)
c.74161A>T (p.Ile24721Phe)
c.74158A>T (p.Ile24720Phe)
c.71200A>T (p.Ile23734Phe)
c.52816A>T (p.Ile17606Phe)
c.74311A>T (p.Ile24771Phe)
c.74308A>T (p.Ile24770Phe)
c.73741A>T (p.Ile24581Phe)
c.71083A>T (p.Ile23695Phe)
c.71002A>T (p.Ile23668Phe)
c.52765A>T (p.Ile17589Phe)
c.42619A>T (p.Ile14207Phe)
2g.178566262T>CCA349593230TTN,TTN-AS1c.72166A>G (p.Ile24056Val)
c.53251A>G (p.Ile17751Val)
c.53050A>G (p.Ile17684Val)
c.52675A>G (p.Ile17559Val)
c.79870A>G (p.Ile26624Val)
c.74947A>G (p.Ile24983Val)
n.447-5038T>C
n.2044-16310T>C
c.78967A>G (p.Ile26323Val)
c.52861A>G (p.Ile17621Val)
c.52720A>G (p.Ile17574Val)
c.78763A>G (p.Ile26255Val)
c.74161A>G (p.Ile24721Val)
c.74158A>G (p.Ile24720Val)
c.71200A>G (p.Ile23734Val)
c.52816A>G (p.Ile17606Val)
c.74311A>G (p.Ile24771Val)
c.74308A>G (p.Ile24770Val)
c.73741A>G (p.Ile24581Val)
c.71083A>G (p.Ile23695Val)
c.71002A>G (p.Ile23668Val)
c.52765A>G (p.Ile17589Val)
c.42619A>G (p.Ile14207Val)
2g.178566262T>GCA349593233TTN,TTN-AS1c.72166A>C (p.Ile24056Leu)
c.53251A>C (p.Ile17751Leu)
c.53050A>C (p.Ile17684Leu)
c.52675A>C (p.Ile17559Leu)
c.79870A>C (p.Ile26624Leu)
c.74947A>C (p.Ile24983Leu)
n.447-5038T>G
n.2044-16310T>G
c.78967A>C (p.Ile26323Leu)
c.52861A>C (p.Ile17621Leu)
c.52720A>C (p.Ile17574Leu)
c.78763A>C (p.Ile26255Leu)
c.74161A>C (p.Ile24721Leu)
c.74158A>C (p.Ile24720Leu)
c.71200A>C (p.Ile23734Leu)
c.52816A>C (p.Ile17606Leu)
c.74311A>C (p.Ile24771Leu)
c.74308A>C (p.Ile24770Leu)
c.73741A>C (p.Ile24581Leu)
c.71083A>C (p.Ile23695Leu)
c.71002A>C (p.Ile23668Leu)
c.52765A>C (p.Ile17589Leu)
c.42619A>C (p.Ile14207Leu)
2g.178566263C>ACA349593240TTN,TTN-AS1c.72165G>T (p.Glu24055Asp)
c.53250G>T (p.Glu17750Asp)
c.53049G>T (p.Glu17683Asp)
c.52674G>T (p.Glu17558Asp)
c.79869G>T (p.Glu26623Asp)
c.74946G>T (p.Glu24982Asp)
n.447-5037C>A
n.2044-16309C>A
c.78966G>T (p.Glu26322Asp)
c.52860G>T (p.Glu17620Asp)
c.52719G>T (p.Glu17573Asp)
c.78762G>T (p.Glu26254Asp)
c.74160G>T (p.Glu24720Asp)
c.74157G>T (p.Glu24719Asp)
c.71199G>T (p.Glu23733Asp)
c.52815G>T (p.Glu17605Asp)
c.74310G>T (p.Glu24770Asp)
c.74307G>T (p.Glu24769Asp)
c.73740G>T (p.Glu24580Asp)
c.71082G>T (p.Glu23694Asp)
c.71001G>T (p.Glu23667Asp)
c.52764G>T (p.Glu17588Asp)
c.42618G>T (p.Glu14206Asp)
2g.178566263C=CA1310529441TTN,TTN-AS1c.72165G= (p.Glu24055=)
c.53250G= (p.Glu17750=)
c.53049G= (p.Glu17683=)
c.52674G= (p.Glu17558=)
c.79869G= (p.Glu26623=)
c.74946G= (p.Glu24982=)
n.447-5037C=
n.2044-16309C=
c.78966G= (p.Glu26322=)
c.52860G= (p.Glu17620=)
c.52719G= (p.Glu17573=)
c.78762G= (p.Glu26254=)
c.74160G= (p.Glu24720=)
c.74157G= (p.Glu24719=)
c.71199G= (p.Glu23733=)
c.52815G= (p.Glu17605=)
c.74310G= (p.Glu24770=)
c.74307G= (p.Glu24769=)
c.73740G= (p.Glu24580=)
c.71082G= (p.Glu23694=)
c.71001G= (p.Glu23667=)
c.52764G= (p.Glu17588=)
c.42618G= (p.Glu14206=)
2g.178566263C>GCA349593244TTN,TTN-AS1c.72165G>C (p.Glu24055Asp)
c.53250G>C (p.Glu17750Asp)
c.53049G>C (p.Glu17683Asp)
c.52674G>C (p.Glu17558Asp)
c.79869G>C (p.Glu26623Asp)
c.74946G>C (p.Glu24982Asp)
n.447-5037C>G
n.2044-16309C>G
c.78966G>C (p.Glu26322Asp)
c.52860G>C (p.Glu17620Asp)
c.52719G>C (p.Glu17573Asp)
c.78762G>C (p.Glu26254Asp)
c.74160G>C (p.Glu24720Asp)
c.74157G>C (p.Glu24719Asp)
c.71199G>C (p.Glu23733Asp)
c.52815G>C (p.Glu17605Asp)
c.74310G>C (p.Glu24770Asp)
c.74307G>C (p.Glu24769Asp)
c.73740G>C (p.Glu24580Asp)
c.71082G>C (p.Glu23694Asp)
c.71001G>C (p.Glu23667Asp)
c.52764G>C (p.Glu17588Asp)
c.42618G>C (p.Glu14206Asp)
 dbSNP gnomAD v3 gnomAD v4
2g.178566263C>TCA1989423TTN,TTN-AS1c.72165G>A (p.Glu24055=)
c.53250G>A (p.Glu17750=)
c.53049G>A (p.Glu17683=)
c.52674G>A (p.Glu17558=)
c.79869G>A (p.Glu26623=)
c.74946G>A (p.Glu24982=)
n.447-5037C>T
n.2044-16309C>T
c.78966G>A (p.Glu26322=)
c.52860G>A (p.Glu17620=)
c.52719G>A (p.Glu17573=)
c.78762G>A (p.Glu26254=)
c.74160G>A (p.Glu24720=)
c.74157G>A (p.Glu24719=)
c.71199G>A (p.Glu23733=)
c.52815G>A (p.Glu17605=)
c.74310G>A (p.Glu24770=)
c.74307G>A (p.Glu24769=)
c.73740G>A (p.Glu24580=)
c.71082G>A (p.Glu23694=)
c.71001G>A (p.Glu23667=)
c.52764G>A (p.Glu17588=)
c.42618G>A (p.Glu14206=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178566264T>ACA349593256TTN,TTN-AS1c.72164A>T (p.Glu24055Val)
c.53249A>T (p.Glu17750Val)
c.53048A>T (p.Glu17683Val)
c.52673A>T (p.Glu17558Val)
c.79868A>T (p.Glu26623Val)
c.74945A>T (p.Glu24982Val)
n.447-5036T>A
n.2044-16308T>A
c.78965A>T (p.Glu26322Val)
c.52859A>T (p.Glu17620Val)
c.52718A>T (p.Glu17573Val)
c.78761A>T (p.Glu26254Val)
c.74159A>T (p.Glu24720Val)
c.74156A>T (p.Glu24719Val)
c.71198A>T (p.Glu23733Val)
c.52814A>T (p.Glu17605Val)
c.74309A>T (p.Glu24770Val)
c.74306A>T (p.Glu24769Val)
c.73739A>T (p.Glu24580Val)
c.71081A>T (p.Glu23694Val)
c.71000A>T (p.Glu23667Val)
c.52763A>T (p.Glu17588Val)
c.42617A>T (p.Glu14206Val)
2g.178566264T>CCA349593259TTN,TTN-AS1c.72164A>G (p.Glu24055Gly)
c.53249A>G (p.Glu17750Gly)
c.53048A>G (p.Glu17683Gly)
c.52673A>G (p.Glu17558Gly)
c.79868A>G (p.Glu26623Gly)
c.74945A>G (p.Glu24982Gly)
n.447-5036T>C
n.2044-16308T>C
c.78965A>G (p.Glu26322Gly)
c.52859A>G (p.Glu17620Gly)
c.52718A>G (p.Glu17573Gly)
c.78761A>G (p.Glu26254Gly)
c.74159A>G (p.Glu24720Gly)
c.74156A>G (p.Glu24719Gly)
c.71198A>G (p.Glu23733Gly)
c.52814A>G (p.Glu17605Gly)
c.74309A>G (p.Glu24770Gly)
c.74306A>G (p.Glu24769Gly)
c.73739A>G (p.Glu24580Gly)
c.71081A>G (p.Glu23694Gly)
c.71000A>G (p.Glu23667Gly)
c.52763A>G (p.Glu17588Gly)
c.42617A>G (p.Glu14206Gly)
 dbSNP
2g.178566264T>GCA349593263TTN,TTN-AS1c.72164A>C (p.Glu24055Ala)
c.53249A>C (p.Glu17750Ala)
c.53048A>C (p.Glu17683Ala)
c.52673A>C (p.Glu17558Ala)
c.79868A>C (p.Glu26623Ala)
c.74945A>C (p.Glu24982Ala)
n.447-5036T>G
n.2044-16308T>G
c.78965A>C (p.Glu26322Ala)
c.52859A>C (p.Glu17620Ala)
c.52718A>C (p.Glu17573Ala)
c.78761A>C (p.Glu26254Ala)
c.74159A>C (p.Glu24720Ala)
c.74156A>C (p.Glu24719Ala)
c.71198A>C (p.Glu23733Ala)
c.52814A>C (p.Glu17605Ala)
c.74309A>C (p.Glu24770Ala)
c.74306A>C (p.Glu24769Ala)
c.73739A>C (p.Glu24580Ala)
c.71081A>C (p.Glu23694Ala)
c.71000A>C (p.Glu23667Ala)
c.52763A>C (p.Glu17588Ala)
c.42617A>C (p.Glu14206Ala)
2g.178566265C>ACA349593267TTN,TTN-AS1c.72163G>T (p.Glu24055Ter)
c.53248G>T (p.Glu17750Ter)
c.53047G>T (p.Glu17683Ter)
c.52672G>T (p.Glu17558Ter)
c.79867G>T (p.Glu26623Ter)
c.74944G>T (p.Glu24982Ter)
n.447-5035C>A
n.2044-16307C>A
c.78964G>T (p.Glu26322Ter)
c.52858G>T (p.Glu17620Ter)
c.52717G>T (p.Glu17573Ter)
c.78760G>T (p.Glu26254Ter)
c.74158G>T (p.Glu24720Ter)
c.74155G>T (p.Glu24719Ter)
c.71197G>T (p.Glu23733Ter)
c.52813G>T (p.Glu17605Ter)
c.74308G>T (p.Glu24770Ter)
c.74305G>T (p.Glu24769Ter)
c.73738G>T (p.Glu24580Ter)
c.71080G>T (p.Glu23694Ter)
c.70999G>T (p.Glu23667Ter)
c.52762G>T (p.Glu17588Ter)
c.42616G>T (p.Glu14206Ter)
2g.178566265C=CA1310529442TTN,TTN-AS1c.72163G= (p.Glu24055=)
c.53248G= (p.Glu17750=)
c.53047G= (p.Glu17683=)
c.52672G= (p.Glu17558=)
c.79867G= (p.Glu26623=)
c.74944G= (p.Glu24982=)
n.447-5035C=
n.2044-16307C=
c.78964G= (p.Glu26322=)
c.52858G= (p.Glu17620=)
c.52717G= (p.Glu17573=)
c.78760G= (p.Glu26254=)
c.74158G= (p.Glu24720=)
c.74155G= (p.Glu24719=)
c.71197G= (p.Glu23733=)
c.52813G= (p.Glu17605=)
c.74308G= (p.Glu24770=)
c.74305G= (p.Glu24769=)
c.73738G= (p.Glu24580=)
c.71080G= (p.Glu23694=)
c.70999G= (p.Glu23667=)
c.52762G= (p.Glu17588=)
c.42616G= (p.Glu14206=)
2g.178566265C>GCA349593268TTN,TTN-AS1c.72163G>C (p.Glu24055Gln)
c.53248G>C (p.Glu17750Gln)
c.53047G>C (p.Glu17683Gln)
c.52672G>C (p.Glu17558Gln)
c.79867G>C (p.Glu26623Gln)
c.74944G>C (p.Glu24982Gln)
n.447-5035C>G
n.2044-16307C>G
c.78964G>C (p.Glu26322Gln)
c.52858G>C (p.Glu17620Gln)
c.52717G>C (p.Glu17573Gln)
c.78760G>C (p.Glu26254Gln)
c.74158G>C (p.Glu24720Gln)
c.74155G>C (p.Glu24719Gln)
c.71197G>C (p.Glu23733Gln)
c.52813G>C (p.Glu17605Gln)
c.74308G>C (p.Glu24770Gln)
c.74305G>C (p.Glu24769Gln)
c.73738G>C (p.Glu24580Gln)
c.71080G>C (p.Glu23694Gln)
c.70999G>C (p.Glu23667Gln)
c.52762G>C (p.Glu17588Gln)
c.42616G>C (p.Glu14206Gln)
2g.178566265C>TCA349593271TTN,TTN-AS1c.72163G>A (p.Glu24055Lys)
c.53248G>A (p.Glu17750Lys)
c.53047G>A (p.Glu17683Lys)
c.52672G>A (p.Glu17558Lys)
c.79867G>A (p.Glu26623Lys)
c.74944G>A (p.Glu24982Lys)
n.447-5035C>T
n.2044-16307C>T
c.78964G>A (p.Glu26322Lys)
c.52858G>A (p.Glu17620Lys)
c.52717G>A (p.Glu17573Lys)
c.78760G>A (p.Glu26254Lys)
c.74158G>A (p.Glu24720Lys)
c.74155G>A (p.Glu24719Lys)
c.71197G>A (p.Glu23733Lys)
c.52813G>A (p.Glu17605Lys)
c.74308G>A (p.Glu24770Lys)
c.74305G>A (p.Glu24769Lys)
c.73738G>A (p.Glu24580Lys)
c.71080G>A (p.Glu23694Lys)
c.70999G>A (p.Glu23667Lys)
c.52762G>A (p.Glu17588Lys)
c.42616G>A (p.Glu14206Lys)
 dbSNP gnomAD v4 COSMIC COSMIC COSMIC
2g.178566266A>CCA430252457TTN,TTN-AS1c.72162T>G (p.Pro24054=)
c.53247T>G (p.Pro17749=)
c.53046T>G (p.Pro17682=)
c.52671T>G (p.Pro17557=)
c.79866T>G (p.Pro26622=)
c.74943T>G (p.Pro24981=)
n.447-5034A>C
n.2044-16306A>C
c.78963T>G (p.Pro26321=)
c.52857T>G (p.Pro17619=)
c.52716T>G (p.Pro17572=)
c.78759T>G (p.Pro26253=)
c.74157T>G (p.Pro24719=)
c.74154T>G (p.Pro24718=)
c.71196T>G (p.Pro23732=)
c.52812T>G (p.Pro17604=)
c.74307T>G (p.Pro24769=)
c.74304T>G (p.Pro24768=)
c.73737T>G (p.Pro24579=)
c.71079T>G (p.Pro23693=)
c.70998T>G (p.Pro23666=)
c.52761T>G (p.Pro17587=)
c.42615T>G (p.Pro14205=)
2g.178566266A>GCA430252459TTN,TTN-AS1c.72162T>C (p.Pro24054=)
c.53247T>C (p.Pro17749=)
c.53046T>C (p.Pro17682=)
c.52671T>C (p.Pro17557=)
c.79866T>C (p.Pro26622=)
c.74943T>C (p.Pro24981=)
n.447-5034A>G
n.2044-16306A>G
c.78963T>C (p.Pro26321=)
c.52857T>C (p.Pro17619=)
c.52716T>C (p.Pro17572=)
c.78759T>C (p.Pro26253=)
c.74157T>C (p.Pro24719=)
c.74154T>C (p.Pro24718=)
c.71196T>C (p.Pro23732=)
c.52812T>C (p.Pro17604=)
c.74307T>C (p.Pro24769=)
c.74304T>C (p.Pro24768=)
c.73737T>C (p.Pro24579=)
c.71079T>C (p.Pro23693=)
c.70998T>C (p.Pro23666=)
c.52761T>C (p.Pro17587=)
c.42615T>C (p.Pro14205=)
2g.178566266A>TCA430252458TTN,TTN-AS1c.72162T>A (p.Pro24054=)
c.53247T>A (p.Pro17749=)
c.53046T>A (p.Pro17682=)
c.52671T>A (p.Pro17557=)
c.79866T>A (p.Pro26622=)
c.74943T>A (p.Pro24981=)
n.447-5034A>T
n.2044-16306A>T
c.78963T>A (p.Pro26321=)
c.52857T>A (p.Pro17619=)
c.52716T>A (p.Pro17572=)
c.78759T>A (p.Pro26253=)
c.74157T>A (p.Pro24719=)
c.74154T>A (p.Pro24718=)
c.71196T>A (p.Pro23732=)
c.52812T>A (p.Pro17604=)
c.74307T>A (p.Pro24769=)
c.74304T>A (p.Pro24768=)
c.73737T>A (p.Pro24579=)
c.71079T>A (p.Pro23693=)
c.70998T>A (p.Pro23666=)
c.52761T>A (p.Pro17587=)
c.42615T>A (p.Pro14205=)
2g.178566266_178566270delCA2753333586TTN,TTN-AS1c.72158_72162del (p.Thr24053ArgfsTer10)
c.53243_53247del (p.Thr17748ArgfsTer10)
c.53042_53046del (p.Thr17681ArgfsTer10)
c.52667_52671del (p.Thr17556ArgfsTer10)
c.79862_79866del (p.Thr26621ArgfsTer10)
c.74939_74943del (p.Thr24980ArgfsTer10)
n.447-5034_447-5030del
n.2044-16306_2044-16302del
c.78959_78963del (p.Thr26320ArgfsTer10)
c.52853_52857del (p.Thr17618ArgfsTer10)
c.52712_52716del (p.Thr17571ArgfsTer10)
c.78755_78759del (p.Thr26252ArgfsTer10)
c.74153_74157del (p.Thr24718ArgfsTer10)
c.74150_74154del (p.Thr24717ArgfsTer10)
c.71192_71196del (p.Thr23731ArgfsTer10)
c.52808_52812del (p.Thr17603ArgfsTer10)
c.74303_74307del (p.Thr24768ArgfsTer10)
c.74300_74304del (p.Thr24767ArgfsTer10)
c.73733_73737del (p.Thr24578ArgfsTer10)
c.71075_71079del (p.Thr23692ArgfsTer10)
c.70994_70998del (p.Thr23665ArgfsTer10)
c.52757_52761del (p.Thr17586ArgfsTer10)
c.42611_42615del (p.Thr14204ArgfsTer10)
2g.178566267G>ACA1989424TTN,TTN-AS1c.72161C>T (p.Pro24054Leu)
c.53246C>T (p.Pro17749Leu)
c.53045C>T (p.Pro17682Leu)
c.52670C>T (p.Pro17557Leu)
c.79865C>T (p.Pro26622Leu)
c.74942C>T (p.Pro24981Leu)
n.447-5033G>A
n.2044-16305G>A
c.78962C>T (p.Pro26321Leu)
c.52856C>T (p.Pro17619Leu)
c.52715C>T (p.Pro17572Leu)
c.78758C>T (p.Pro26253Leu)
c.74156C>T (p.Pro24719Leu)
c.74153C>T (p.Pro24718Leu)
c.71195C>T (p.Pro23732Leu)
c.52811C>T (p.Pro17604Leu)
c.74306C>T (p.Pro24769Leu)
c.74303C>T (p.Pro24768Leu)
c.73736C>T (p.Pro24579Leu)
c.71078C>T (p.Pro23693Leu)
c.70997C>T (p.Pro23666Leu)
c.52760C>T (p.Pro17587Leu)
c.42614C>T (p.Pro14205Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178566267G>CCA349593276TTN,TTN-AS1c.72161C>G (p.Pro24054Arg)
c.53246C>G (p.Pro17749Arg)
c.53045C>G (p.Pro17682Arg)
c.52670C>G (p.Pro17557Arg)
c.79865C>G (p.Pro26622Arg)
c.74942C>G (p.Pro24981Arg)
n.447-5033G>C
n.2044-16305G>C
c.78962C>G (p.Pro26321Arg)
c.52856C>G (p.Pro17619Arg)
c.52715C>G (p.Pro17572Arg)
c.78758C>G (p.Pro26253Arg)
c.74156C>G (p.Pro24719Arg)
c.74153C>G (p.Pro24718Arg)
c.71195C>G (p.Pro23732Arg)
c.52811C>G (p.Pro17604Arg)
c.74306C>G (p.Pro24769Arg)
c.74303C>G (p.Pro24768Arg)
c.73736C>G (p.Pro24579Arg)
c.71078C>G (p.Pro23693Arg)
c.70997C>G (p.Pro23666Arg)
c.52760C>G (p.Pro17587Arg)
c.42614C>G (p.Pro14205Arg)
2g.178566267G=CA1310529443TTN,TTN-AS1c.72161C= (p.Pro24054=)
c.53246C= (p.Pro17749=)
c.53045C= (p.Pro17682=)
c.52670C= (p.Pro17557=)
c.79865C= (p.Pro26622=)
c.74942C= (p.Pro24981=)
n.447-5033G=
n.2044-16305G=
c.78962C= (p.Pro26321=)
c.52856C= (p.Pro17619=)
c.52715C= (p.Pro17572=)
c.78758C= (p.Pro26253=)
c.74156C= (p.Pro24719=)
c.74153C= (p.Pro24718=)
c.71195C= (p.Pro23732=)
c.52811C= (p.Pro17604=)
c.74306C= (p.Pro24769=)
c.74303C= (p.Pro24768=)
c.73736C= (p.Pro24579=)
c.71078C= (p.Pro23693=)
c.70997C= (p.Pro23666=)
c.52760C= (p.Pro17587=)
c.42614C= (p.Pro14205=)
2g.178566267G>TCA349593277TTN,TTN-AS1c.72161C>A (p.Pro24054His)
c.53246C>A (p.Pro17749His)
c.53045C>A (p.Pro17682His)
c.52670C>A (p.Pro17557His)
c.79865C>A (p.Pro26622His)
c.74942C>A (p.Pro24981His)
n.447-5033G>T
n.2044-16305G>T
c.78962C>A (p.Pro26321His)
c.52856C>A (p.Pro17619His)
c.52715C>A (p.Pro17572His)
c.78758C>A (p.Pro26253His)
c.74156C>A (p.Pro24719His)
c.74153C>A (p.Pro24718His)
c.71195C>A (p.Pro23732His)
c.52811C>A (p.Pro17604His)
c.74306C>A (p.Pro24769His)
c.74303C>A (p.Pro24768His)
c.73736C>A (p.Pro24579His)
c.71078C>A (p.Pro23693His)
c.70997C>A (p.Pro23666His)
c.52760C>A (p.Pro17587His)
c.42614C>A (p.Pro14205His)
2g.178566268G>ACA349593279TTN,TTN-AS1c.72160C>T (p.Pro24054Ser)
c.53245C>T (p.Pro17749Ser)
c.53044C>T (p.Pro17682Ser)
c.52669C>T (p.Pro17557Ser)
c.79864C>T (p.Pro26622Ser)
c.74941C>T (p.Pro24981Ser)
n.447-5032G>A
n.2044-16304G>A
c.78961C>T (p.Pro26321Ser)
c.52855C>T (p.Pro17619Ser)
c.52714C>T (p.Pro17572Ser)
c.78757C>T (p.Pro26253Ser)
c.74155C>T (p.Pro24719Ser)
c.74152C>T (p.Pro24718Ser)
c.71194C>T (p.Pro23732Ser)
c.52810C>T (p.Pro17604Ser)
c.74305C>T (p.Pro24769Ser)
c.74302C>T (p.Pro24768Ser)
c.73735C>T (p.Pro24579Ser)
c.71077C>T (p.Pro23693Ser)
c.70996C>T (p.Pro23666Ser)
c.52759C>T (p.Pro17587Ser)
c.42613C>T (p.Pro14205Ser)
 COSMIC COSMIC COSMIC COSMIC
2g.178566268G>CCA349593284TTN,TTN-AS1c.72160C>G (p.Pro24054Ala)
c.53245C>G (p.Pro17749Ala)
c.53044C>G (p.Pro17682Ala)
c.52669C>G (p.Pro17557Ala)
c.79864C>G (p.Pro26622Ala)
c.74941C>G (p.Pro24981Ala)
n.447-5032G>C
n.2044-16304G>C
c.78961C>G (p.Pro26321Ala)
c.52855C>G (p.Pro17619Ala)
c.52714C>G (p.Pro17572Ala)
c.78757C>G (p.Pro26253Ala)
c.74155C>G (p.Pro24719Ala)
c.74152C>G (p.Pro24718Ala)
c.71194C>G (p.Pro23732Ala)
c.52810C>G (p.Pro17604Ala)
c.74305C>G (p.Pro24769Ala)
c.74302C>G (p.Pro24768Ala)
c.73735C>G (p.Pro24579Ala)
c.71077C>G (p.Pro23693Ala)
c.70996C>G (p.Pro23666Ala)
c.52759C>G (p.Pro17587Ala)
c.42613C>G (p.Pro14205Ala)
2g.178566268G=CA1310529444TTN,TTN-AS1c.72160C= (p.Pro24054=)
c.53245C= (p.Pro17749=)
c.53044C= (p.Pro17682=)
c.52669C= (p.Pro17557=)
c.79864C= (p.Pro26622=)
c.74941C= (p.Pro24981=)
n.447-5032G=
n.2044-16304G=
c.78961C= (p.Pro26321=)
c.52855C= (p.Pro17619=)
c.52714C= (p.Pro17572=)
c.78757C= (p.Pro26253=)
c.74155C= (p.Pro24719=)
c.74152C= (p.Pro24718=)
c.71194C= (p.Pro23732=)
c.52810C= (p.Pro17604=)
c.74305C= (p.Pro24769=)
c.74302C= (p.Pro24768=)
c.73735C= (p.Pro24579=)
c.71077C= (p.Pro23693=)
c.70996C= (p.Pro23666=)
c.52759C= (p.Pro17587=)
c.42613C= (p.Pro14205=)
2g.178566268G>TCA349593282TTN,TTN-AS1c.72160C>A (p.Pro24054Thr)
c.53245C>A (p.Pro17749Thr)
c.53044C>A (p.Pro17682Thr)
c.52669C>A (p.Pro17557Thr)
c.79864C>A (p.Pro26622Thr)
c.74941C>A (p.Pro24981Thr)
n.447-5032G>T
n.2044-16304G>T
c.78961C>A (p.Pro26321Thr)
c.52855C>A (p.Pro17619Thr)
c.52714C>A (p.Pro17572Thr)
c.78757C>A (p.Pro26253Thr)
c.74155C>A (p.Pro24719Thr)
c.74152C>A (p.Pro24718Thr)
c.71194C>A (p.Pro23732Thr)
c.52810C>A (p.Pro17604Thr)
c.74305C>A (p.Pro24769Thr)
c.74302C>A (p.Pro24768Thr)
c.73735C>A (p.Pro24579Thr)
c.71077C>A (p.Pro23693Thr)
c.70996C>A (p.Pro23666Thr)
c.52759C>A (p.Pro17587Thr)
c.42613C>A (p.Pro14205Thr)
 dbSNP gnomAD v4
2g.178566269C>ACA430252462TTN,TTN-AS1c.72159G>T (p.Thr24053=)
c.53244G>T (p.Thr17748=)
c.53043G>T (p.Thr17681=)
c.52668G>T (p.Thr17556=)
c.79863G>T (p.Thr26621=)
c.74940G>T (p.Thr24980=)
n.447-5031C>A
n.2044-16303C>A
c.78960G>T (p.Thr26320=)
c.52854G>T (p.Thr17618=)
c.52713G>T (p.Thr17571=)
c.78756G>T (p.Thr26252=)
c.74154G>T (p.Thr24718=)
c.74151G>T (p.Thr24717=)
c.71193G>T (p.Thr23731=)
c.52809G>T (p.Thr17603=)
c.74304G>T (p.Thr24768=)
c.74301G>T (p.Thr24767=)
c.73734G>T (p.Thr24578=)
c.71076G>T (p.Thr23692=)
c.70995G>T (p.Thr23665=)
c.52758G>T (p.Thr17586=)
c.42612G>T (p.Thr14204=)
2g.178566269C=CA1310529445TTN,TTN-AS1c.72159G= (p.Thr24053=)
c.53244G= (p.Thr17748=)
c.53043G= (p.Thr17681=)
c.52668G= (p.Thr17556=)
c.79863G= (p.Thr26621=)
c.74940G= (p.Thr24980=)
n.447-5031C=
n.2044-16303C=
c.78960G= (p.Thr26320=)
c.52854G= (p.Thr17618=)
c.52713G= (p.Thr17571=)
c.78756G= (p.Thr26252=)
c.74154G= (p.Thr24718=)
c.74151G= (p.Thr24717=)
c.71193G= (p.Thr23731=)
c.52809G= (p.Thr17603=)
c.74304G= (p.Thr24768=)
c.74301G= (p.Thr24767=)
c.73734G= (p.Thr24578=)
c.71076G= (p.Thr23692=)
c.70995G= (p.Thr23665=)
c.52758G= (p.Thr17586=)
c.42612G= (p.Thr14204=)
2g.178566269C>GCA430252463TTN,TTN-AS1c.72159G>C (p.Thr24053=)
c.53244G>C (p.Thr17748=)
c.53043G>C (p.Thr17681=)
c.52668G>C (p.Thr17556=)
c.79863G>C (p.Thr26621=)
c.74940G>C (p.Thr24980=)
n.447-5031C>G
n.2044-16303C>G
c.78960G>C (p.Thr26320=)
c.52854G>C (p.Thr17618=)
c.52713G>C (p.Thr17571=)
c.78756G>C (p.Thr26252=)
c.74154G>C (p.Thr24718=)
c.74151G>C (p.Thr24717=)
c.71193G>C (p.Thr23731=)
c.52809G>C (p.Thr17603=)
c.74304G>C (p.Thr24768=)
c.74301G>C (p.Thr24767=)
c.73734G>C (p.Thr24578=)
c.71076G>C (p.Thr23692=)
c.70995G>C (p.Thr23665=)
c.52758G>C (p.Thr17586=)
c.42612G>C (p.Thr14204=)
2g.178566269C>TCA181706TTN,TTN-AS1c.72159G>A (p.Thr24053=)
c.53244G>A (p.Thr17748=)
c.53043G>A (p.Thr17681=)
c.52668G>A (p.Thr17556=)
c.79863G>A (p.Thr26621=)
c.74940G>A (p.Thr24980=)
n.447-5031C>T
n.2044-16303C>T
c.78960G>A (p.Thr26320=)
c.52854G>A (p.Thr17618=)
c.52713G>A (p.Thr17571=)
c.78756G>A (p.Thr26252=)
c.74154G>A (p.Thr24718=)
c.74151G>A (p.Thr24717=)
c.71193G>A (p.Thr23731=)
c.52809G>A (p.Thr17603=)
c.74304G>A (p.Thr24768=)
c.74301G>A (p.Thr24767=)
c.73734G>A (p.Thr24578=)
c.71076G>A (p.Thr23692=)
c.70995G>A (p.Thr23665=)
c.52758G>A (p.Thr17586=)
c.42612G>A (p.Thr14204=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178566270G>ACA283849TTN,TTN-AS1c.72158C>T (p.Thr24053Met)
c.53243C>T (p.Thr17748Met)
c.53042C>T (p.Thr17681Met)
c.52667C>T (p.Thr17556Met)
c.79862C>T (p.Thr26621Met)
c.74939C>T (p.Thr24980Met)
n.447-5030G>A
n.2044-16302G>A
c.78959C>T (p.Thr26320Met)
c.52853C>T (p.Thr17618Met)
c.52712C>T (p.Thr17571Met)
c.78755C>T (p.Thr26252Met)
c.74153C>T (p.Thr24718Met)
c.74150C>T (p.Thr24717Met)
c.71192C>T (p.Thr23731Met)
c.52808C>T (p.Thr17603Met)
c.74303C>T (p.Thr24768Met)
c.74300C>T (p.Thr24767Met)
c.73733C>T (p.Thr24578Met)
c.71075C>T (p.Thr23692Met)
c.70994C>T (p.Thr23665Met)
c.52757C>T (p.Thr17586Met)
c.42611C>T (p.Thr14204Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178566270G>CCA349593291TTN,TTN-AS1c.72158C>G (p.Thr24053Arg)
c.53243C>G (p.Thr17748Arg)
c.53042C>G (p.Thr17681Arg)
c.52667C>G (p.Thr17556Arg)
c.79862C>G (p.Thr26621Arg)
c.74939C>G (p.Thr24980Arg)
n.447-5030G>C
n.2044-16302G>C
c.78959C>G (p.Thr26320Arg)
c.52853C>G (p.Thr17618Arg)
c.52712C>G (p.Thr17571Arg)
c.78755C>G (p.Thr26252Arg)
c.74153C>G (p.Thr24718Arg)
c.74150C>G (p.Thr24717Arg)
c.71192C>G (p.Thr23731Arg)
c.52808C>G (p.Thr17603Arg)
c.74303C>G (p.Thr24768Arg)
c.74300C>G (p.Thr24767Arg)
c.73733C>G (p.Thr24578Arg)
c.71075C>G (p.Thr23692Arg)
c.70994C>G (p.Thr23665Arg)
c.52757C>G (p.Thr17586Arg)
c.42611C>G (p.Thr14204Arg)
2g.178566270G=CA1310529446TTN,TTN-AS1c.72158C= (p.Thr24053=)
c.53243C= (p.Thr17748=)
c.53042C= (p.Thr17681=)
c.52667C= (p.Thr17556=)
c.79862C= (p.Thr26621=)
c.74939C= (p.Thr24980=)
n.447-5030G=
n.2044-16302G=
c.78959C= (p.Thr26320=)
c.52853C= (p.Thr17618=)
c.52712C= (p.Thr17571=)
c.78755C= (p.Thr26252=)
c.74153C= (p.Thr24718=)
c.74150C= (p.Thr24717=)
c.71192C= (p.Thr23731=)
c.52808C= (p.Thr17603=)
c.74303C= (p.Thr24768=)
c.74300C= (p.Thr24767=)
c.73733C= (p.Thr24578=)
c.71075C= (p.Thr23692=)
c.70994C= (p.Thr23665=)
c.52757C= (p.Thr17586=)
c.42611C= (p.Thr14204=)
2g.178566270G>TCA200073TTN,TTN-AS1c.72158C>A (p.Thr24053Lys)
c.53243C>A (p.Thr17748Lys)
c.53042C>A (p.Thr17681Lys)
c.52667C>A (p.Thr17556Lys)
c.79862C>A (p.Thr26621Lys)
c.74939C>A (p.Thr24980Lys)
n.447-5030G>T
n.2044-16302G>T
c.78959C>A (p.Thr26320Lys)
c.52853C>A (p.Thr17618Lys)
c.52712C>A (p.Thr17571Lys)
c.78755C>A (p.Thr26252Lys)
c.74153C>A (p.Thr24718Lys)
c.74150C>A (p.Thr24717Lys)
c.71192C>A (p.Thr23731Lys)
c.52808C>A (p.Thr17603Lys)
c.74303C>A (p.Thr24768Lys)
c.74300C>A (p.Thr24767Lys)
c.73733C>A (p.Thr24578Lys)
c.71075C>A (p.Thr23692Lys)
c.70994C>A (p.Thr23665Lys)
c.52757C>A (p.Thr17586Lys)
c.42611C>A (p.Thr14204Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178566270_178566271delinsACCA658796024TTN,TTN-AS1c.72157_72158delinsGT (p.Thr24053Val)
c.53242_53243delinsGT (p.Thr17748Val)
c.53041_53042delinsGT (p.Thr17681Val)
c.52666_52667delinsGT (p.Thr17556Val)
c.79861_79862delinsGT (p.Thr26621Val)
c.74938_74939delinsGT (p.Thr24980Val)
n.447-5030_447-5029delinsAC
n.2044-16302_2044-16301delinsAC
c.78958_78959delinsGT (p.Thr26320Val)
c.52852_52853delinsGT (p.Thr17618Val)
c.52711_52712delinsGT (p.Thr17571Val)
c.78754_78755delinsGT (p.Thr26252Val)
c.74152_74153delinsGT (p.Thr24718Val)
c.74149_74150delinsGT (p.Thr24717Val)
c.71191_71192delinsGT (p.Thr23731Val)
c.52807_52808delinsGT (p.Thr17603Val)
c.74302_74303delinsGT (p.Thr24768Val)
c.74299_74300delinsGT (p.Thr24767Val)
c.73732_73733delinsGT (p.Thr24578Val)
c.71074_71075delinsGT (p.Thr23692Val)
c.70993_70994delinsGT (p.Thr23665Val)
c.52756_52757delinsGT (p.Thr17586Val)
c.42610_42611delinsGT (p.Thr14204Val)
 ClinVar
2g.178566271T>ACA349593297TTN,TTN-AS1c.72157A>T (p.Thr24053Ser)
c.53242A>T (p.Thr17748Ser)
c.53041A>T (p.Thr17681Ser)
c.52666A>T (p.Thr17556Ser)
c.79861A>T (p.Thr26621Ser)
c.74938A>T (p.Thr24980Ser)
n.447-5029T>A
n.2044-16301T>A
c.78958A>T (p.Thr26320Ser)
c.52852A>T (p.Thr17618Ser)
c.52711A>T (p.Thr17571Ser)
c.78754A>T (p.Thr26252Ser)
c.74152A>T (p.Thr24718Ser)
c.74149A>T (p.Thr24717Ser)
c.71191A>T (p.Thr23731Ser)
c.52807A>T (p.Thr17603Ser)
c.74302A>T (p.Thr24768Ser)
c.74299A>T (p.Thr24767Ser)
c.73732A>T (p.Thr24578Ser)
c.71074A>T (p.Thr23692Ser)
c.70993A>T (p.Thr23665Ser)
c.52756A>T (p.Thr17586Ser)
c.42610A>T (p.Thr14204Ser)
2g.178566271T>CCA1989425TTN,TTN-AS1c.72157A>G (p.Thr24053Ala)
c.53242A>G (p.Thr17748Ala)
c.53041A>G (p.Thr17681Ala)
c.52666A>G (p.Thr17556Ala)
c.79861A>G (p.Thr26621Ala)
c.74938A>G (p.Thr24980Ala)
n.447-5029T>C
n.2044-16301T>C
c.78958A>G (p.Thr26320Ala)
c.52852A>G (p.Thr17618Ala)
c.52711A>G (p.Thr17571Ala)
c.78754A>G (p.Thr26252Ala)
c.74152A>G (p.Thr24718Ala)
c.74149A>G (p.Thr24717Ala)
c.71191A>G (p.Thr23731Ala)
c.52807A>G (p.Thr17603Ala)
c.74302A>G (p.Thr24768Ala)
c.74299A>G (p.Thr24767Ala)
c.73732A>G (p.Thr24578Ala)
c.71074A>G (p.Thr23692Ala)
c.70993A>G (p.Thr23665Ala)
c.52756A>G (p.Thr17586Ala)
c.42610A>G (p.Thr14204Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178566271T>GCA349593301TTN,TTN-AS1c.72157A>C (p.Thr24053Pro)
c.53242A>C (p.Thr17748Pro)
c.53041A>C (p.Thr17681Pro)
c.52666A>C (p.Thr17556Pro)
c.79861A>C (p.Thr26621Pro)
c.74938A>C (p.Thr24980Pro)
n.447-5029T>G
n.2044-16301T>G
c.78958A>C (p.Thr26320Pro)
c.52852A>C (p.Thr17618Pro)
c.52711A>C (p.Thr17571Pro)
c.78754A>C (p.Thr26252Pro)
c.74152A>C (p.Thr24718Pro)
c.74149A>C (p.Thr24717Pro)
c.71191A>C (p.Thr23731Pro)
c.52807A>C (p.Thr17603Pro)
c.74302A>C (p.Thr24768Pro)
c.74299A>C (p.Thr24767Pro)
c.73732A>C (p.Thr24578Pro)
c.71074A>C (p.Thr23692Pro)
c.70993A>C (p.Thr23665Pro)
c.52756A>C (p.Thr17586Pro)
c.42610A>C (p.Thr14204Pro)
2g.178566271T=CA1310529447TTN,TTN-AS1c.72157A= (p.Thr24053=)
c.53242A= (p.Thr17748=)
c.53041A= (p.Thr17681=)
c.52666A= (p.Thr17556=)
c.79861A= (p.Thr26621=)
c.74938A= (p.Thr24980=)
n.447-5029T=
n.2044-16301T=
c.78958A= (p.Thr26320=)
c.52852A= (p.Thr17618=)
c.52711A= (p.Thr17571=)
c.78754A= (p.Thr26252=)
c.74152A= (p.Thr24718=)
c.74149A= (p.Thr24717=)
c.71191A= (p.Thr23731=)
c.52807A= (p.Thr17603=)
c.74302A= (p.Thr24768=)
c.74299A= (p.Thr24767=)
c.73732A= (p.Thr24578=)
c.71074A= (p.Thr23692=)
c.70993A= (p.Thr23665=)
c.52756A= (p.Thr17586=)
c.42610A= (p.Thr14204=)
2g.178566272T>ACA430252467TTN,TTN-AS1c.72156A>T (p.Pro24052=)
c.53241A>T (p.Pro17747=)
c.53040A>T (p.Pro17680=)
c.52665A>T (p.Pro17555=)
c.79860A>T (p.Pro26620=)
c.74937A>T (p.Pro24979=)
n.447-5028T>A
n.2044-16300T>A
c.78957A>T (p.Pro26319=)
c.52851A>T (p.Pro17617=)
c.52710A>T (p.Pro17570=)
c.78753A>T (p.Pro26251=)
c.74151A>T (p.Pro24717=)
c.74148A>T (p.Pro24716=)
c.71190A>T (p.Pro23730=)
c.52806A>T (p.Pro17602=)
c.74301A>T (p.Pro24767=)
c.74298A>T (p.Pro24766=)
c.73731A>T (p.Pro24577=)
c.71073A>T (p.Pro23691=)
c.70992A>T (p.Pro23664=)
c.52755A>T (p.Pro17585=)
c.42609A>T (p.Pro14203=)
2g.178566272T>CCA430252468TTN,TTN-AS1c.72156A>G (p.Pro24052=)
c.53241A>G (p.Pro17747=)
c.53040A>G (p.Pro17680=)
c.52665A>G (p.Pro17555=)
c.79860A>G (p.Pro26620=)
c.74937A>G (p.Pro24979=)
n.447-5028T>C
n.2044-16300T>C
c.78957A>G (p.Pro26319=)
c.52851A>G (p.Pro17617=)
c.52710A>G (p.Pro17570=)
c.78753A>G (p.Pro26251=)
c.74151A>G (p.Pro24717=)
c.74148A>G (p.Pro24716=)
c.71190A>G (p.Pro23730=)
c.52806A>G (p.Pro17602=)
c.74301A>G (p.Pro24767=)
c.74298A>G (p.Pro24766=)
c.73731A>G (p.Pro24577=)
c.71073A>G (p.Pro23691=)
c.70992A>G (p.Pro23664=)
c.52755A>G (p.Pro17585=)
c.42609A>G (p.Pro14203=)
2g.178566272T>GCA430252469TTN,TTN-AS1c.72156A>C (p.Pro24052=)
c.53241A>C (p.Pro17747=)
c.53040A>C (p.Pro17680=)
c.52665A>C (p.Pro17555=)
c.79860A>C (p.Pro26620=)
c.74937A>C (p.Pro24979=)
n.447-5028T>G
n.2044-16300T>G
c.78957A>C (p.Pro26319=)
c.52851A>C (p.Pro17617=)
c.52710A>C (p.Pro17570=)
c.78753A>C (p.Pro26251=)
c.74151A>C (p.Pro24717=)
c.74148A>C (p.Pro24716=)
c.71190A>C (p.Pro23730=)
c.52806A>C (p.Pro17602=)
c.74301A>C (p.Pro24767=)
c.74298A>C (p.Pro24766=)
c.73731A>C (p.Pro24577=)
c.71073A>C (p.Pro23691=)
c.70992A>C (p.Pro23664=)
c.52755A>C (p.Pro17585=)
c.42609A>C (p.Pro14203=)
2g.178566273G>ACA349593305TTN,TTN-AS1c.72155C>T (p.Pro24052Leu)
c.53240C>T (p.Pro17747Leu)
c.53039C>T (p.Pro17680Leu)
c.52664C>T (p.Pro17555Leu)
c.79859C>T (p.Pro26620Leu)
c.74936C>T (p.Pro24979Leu)
n.447-5027G>A
n.2044-16299G>A
c.78956C>T (p.Pro26319Leu)
c.52850C>T (p.Pro17617Leu)
c.52709C>T (p.Pro17570Leu)
c.78752C>T (p.Pro26251Leu)
c.74150C>T (p.Pro24717Leu)
c.74147C>T (p.Pro24716Leu)
c.71189C>T (p.Pro23730Leu)
c.52805C>T (p.Pro17602Leu)
c.74300C>T (p.Pro24767Leu)
c.74297C>T (p.Pro24766Leu)
c.73730C>T (p.Pro24577Leu)
c.71072C>T (p.Pro23691Leu)
c.70991C>T (p.Pro23664Leu)
c.52754C>T (p.Pro17585Leu)
c.42608C>T (p.Pro14203Leu)
 dbSNP gnomAD v3 gnomAD v4
2g.178566273G>CCA349593308TTN,TTN-AS1c.72155C>G (p.Pro24052Arg)
c.53240C>G (p.Pro17747Arg)
c.53039C>G (p.Pro17680Arg)
c.52664C>G (p.Pro17555Arg)
c.79859C>G (p.Pro26620Arg)
c.74936C>G (p.Pro24979Arg)
n.447-5027G>C
n.2044-16299G>C
c.78956C>G (p.Pro26319Arg)
c.52850C>G (p.Pro17617Arg)
c.52709C>G (p.Pro17570Arg)
c.78752C>G (p.Pro26251Arg)
c.74150C>G (p.Pro24717Arg)
c.74147C>G (p.Pro24716Arg)
c.71189C>G (p.Pro23730Arg)
c.52805C>G (p.Pro17602Arg)
c.74300C>G (p.Pro24767Arg)
c.74297C>G (p.Pro24766Arg)
c.73730C>G (p.Pro24577Arg)
c.71072C>G (p.Pro23691Arg)
c.70991C>G (p.Pro23664Arg)
c.52754C>G (p.Pro17585Arg)
c.42608C>G (p.Pro14203Arg)
2g.178566273G=CA1310529448TTN,TTN-AS1c.72155C= (p.Pro24052=)
c.53240C= (p.Pro17747=)
c.53039C= (p.Pro17680=)
c.52664C= (p.Pro17555=)
c.79859C= (p.Pro26620=)
c.74936C= (p.Pro24979=)
n.447-5027G=
n.2044-16299G=
c.78956C= (p.Pro26319=)
c.52850C= (p.Pro17617=)
c.52709C= (p.Pro17570=)
c.78752C= (p.Pro26251=)
c.74150C= (p.Pro24717=)
c.74147C= (p.Pro24716=)
c.71189C= (p.Pro23730=)
c.52805C= (p.Pro17602=)
c.74300C= (p.Pro24767=)
c.74297C= (p.Pro24766=)
c.73730C= (p.Pro24577=)
c.71072C= (p.Pro23691=)
c.70991C= (p.Pro23664=)
c.52754C= (p.Pro17585=)
c.42608C= (p.Pro14203=)
2g.178566273G>TCA349593310TTN,TTN-AS1c.72155C>A (p.Pro24052Gln)
c.53240C>A (p.Pro17747Gln)
c.53039C>A (p.Pro17680Gln)
c.52664C>A (p.Pro17555Gln)
c.79859C>A (p.Pro26620Gln)
c.74936C>A (p.Pro24979Gln)
n.447-5027G>T
n.2044-16299G>T
c.78956C>A (p.Pro26319Gln)
c.52850C>A (p.Pro17617Gln)
c.52709C>A (p.Pro17570Gln)
c.78752C>A (p.Pro26251Gln)
c.74150C>A (p.Pro24717Gln)
c.74147C>A (p.Pro24716Gln)
c.71189C>A (p.Pro23730Gln)
c.52805C>A (p.Pro17602Gln)
c.74300C>A (p.Pro24767Gln)
c.74297C>A (p.Pro24766Gln)
c.73730C>A (p.Pro24577Gln)
c.71072C>A (p.Pro23691Gln)
c.70991C>A (p.Pro23664Gln)
c.52754C>A (p.Pro17585Gln)
c.42608C>A (p.Pro14203Gln)
 COSMIC COSMIC COSMIC COSMIC

Number of alleles fetched