Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.178578835G>ACA1991173TTN,TTN-AS1c.60491C>T (p.Ser20164Leu)
c.41576C>T (p.Ser13859Leu)
c.41375C>T (p.Ser13792Leu)
c.41000C>T (p.Ser13667Leu)
c.68195C>T (p.Ser22732Leu)
c.63272C>T (p.Ser21091Leu)
n.596+7386G>A
n.2044-3737G>A
c.67292C>T (p.Ser22431Leu)
c.41186C>T (p.Ser13729Leu)
c.41045C>T (p.Ser13682Leu)
c.67088C>T (p.Ser22363Leu)
c.62486C>T (p.Ser20829Leu)
c.62483C>T (p.Ser20828Leu)
c.59525C>T (p.Ser19842Leu)
c.41141C>T (p.Ser13714Leu)
c.62636C>T (p.Ser20879Leu)
c.62633C>T (p.Ser20878Leu)
c.62066C>T (p.Ser20689Leu)
c.59408C>T (p.Ser19803Leu)
c.59327C>T (p.Ser19776Leu)
c.41090C>T (p.Ser13697Leu)
c.30944C>T (p.Ser10315Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
2g.178578835G>TCA273679TTN,TTN-AS1c.60491C>A (p.Ser20164Ter)
c.41576C>A (p.Ser13859Ter)
c.41375C>A (p.Ser13792Ter)
c.41000C>A (p.Ser13667Ter)
c.68195C>A (p.Ser22732Ter)
c.63272C>A (p.Ser21091Ter)
n.596+7386G>T
n.2044-3737G>T
c.67292C>A (p.Ser22431Ter)
c.41186C>A (p.Ser13729Ter)
c.41045C>A (p.Ser13682Ter)
c.67088C>A (p.Ser22363Ter)
c.62486C>A (p.Ser20829Ter)
c.62483C>A (p.Ser20828Ter)
c.59525C>A (p.Ser19842Ter)
c.41141C>A (p.Ser13714Ter)
c.62636C>A (p.Ser20879Ter)
c.62633C>A (p.Ser20878Ter)
c.62066C>A (p.Ser20689Ter)
c.59408C>A (p.Ser19803Ter)
c.59327C>A (p.Ser19776Ter)
c.41090C>A (p.Ser13697Ter)
c.30944C>A (p.Ser10315Ter)
 ClinVar dbSNP
2g.178578835G=CA1310534946TTN,TTN-AS1c.60491C= (p.Ser20164=)
c.41576C= (p.Ser13859=)
c.41375C= (p.Ser13792=)
c.41000C= (p.Ser13667=)
c.68195C= (p.Ser22732=)
c.63272C= (p.Ser21091=)
n.596+7386G=
n.2044-3737G=
c.67292C= (p.Ser22431=)
c.41186C= (p.Ser13729=)
c.41045C= (p.Ser13682=)
c.67088C= (p.Ser22363=)
c.62486C= (p.Ser20829=)
c.62483C= (p.Ser20828=)
c.59525C= (p.Ser19842=)
c.41141C= (p.Ser13714=)
c.62636C= (p.Ser20879=)
c.62633C= (p.Ser20878=)
c.62066C= (p.Ser20689=)
c.59408C= (p.Ser19803=)
c.59327C= (p.Ser19776=)
c.41090C= (p.Ser13697=)
c.30944C= (p.Ser10315=)
 dbSNP

Number of alleles fetched