Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.152141290C>ACA115486SYNE1c.1693G>T (p.Val565Leu)
c.25159G>T (p.Val8387Leu)
c.25015G>T (p.Val8339Leu)
c.561G>T
c.894G>T
c.891-1129G>T
c.931G>T (p.Val311Leu)
c.23944G>T (p.Val7982Leu)
n.1907G>T
c.3994G>T (p.Val1332Leu)
n.8851G>T
c.3097G>T (p.Val1033Leu)
n.8743G>T
n.1773G>T
n.4181G>T
n.1996G>T
c.1624G>T (p.Val542Leu)
c.25264G>T (p.Val8422Leu)
c.25252G>T (p.Val8418Leu)
c.25243G>T (p.Val8415Leu)
c.25213G>T (p.Val8405Leu)
c.25249G>T (p.Val8417Leu)
c.25195G>T (p.Val8399Leu)
c.25192G>T (p.Val8398Leu)
c.25180G>T (p.Val8394Leu)
c.25123G>T (p.Val8375Leu)
c.25111G>T (p.Val8371Leu)
c.25108G>T (p.Val8370Leu)
c.25105G>T (p.Val8369Leu)
c.25261G>T (p.Val8421Leu)
c.25099G>T (p.Val8367Leu)
c.23539G>T (p.Val7847Leu)
c.23032G>T (p.Val7678Leu)
c.18499G>T (p.Val6167Leu)
c.1765G>T (p.Val589Leu)
c.25237G>T (p.Val8413Leu)
c.25186G>T (p.Val8396Leu)
c.25039G>T (p.Val8347Leu)
ClinVar dbSNP
6g.152141290C>TCA4052914SYNE1c.1693G>A (p.Val565Met)
c.25159G>A (p.Val8387Met)
c.25015G>A (p.Val8339Met)
c.561G>A
c.894G>A
c.891-1129G>A
c.931G>A (p.Val311Met)
c.23944G>A (p.Val7982Met)
n.1907G>A
c.3994G>A (p.Val1332Met)
n.8851G>A
c.3097G>A (p.Val1033Met)
n.8743G>A
n.1773G>A
n.4181G>A
n.1996G>A
c.1624G>A (p.Val542Met)
c.25264G>A (p.Val8422Met)
c.25252G>A (p.Val8418Met)
c.25243G>A (p.Val8415Met)
c.25213G>A (p.Val8405Met)
c.25249G>A (p.Val8417Met)
c.25195G>A (p.Val8399Met)
c.25192G>A (p.Val8398Met)
c.25180G>A (p.Val8394Met)
c.25123G>A (p.Val8375Met)
c.25111G>A (p.Val8371Met)
c.25108G>A (p.Val8370Met)
c.25105G>A (p.Val8369Met)
c.25261G>A (p.Val8421Met)
c.25099G>A (p.Val8367Met)
c.23539G>A (p.Val7847Met)
c.23032G>A (p.Val7678Met)
c.18499G>A (p.Val6167Met)
c.1765G>A (p.Val589Met)
c.25237G>A (p.Val8413Met)
c.25186G>A (p.Val8396Met)
c.25039G>A (p.Val8347Met)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC

Number of alleles fetched