Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.51751410T>ACA480061025SCN8Ac.2187T>A (p.Thr729=)
c.34T>A
c.191T>A
n.2315T>A
c.2220T>A (p.Thr740=)
12g.51751410T>CCA480061026SCN8Ac.2187T>C (p.Thr729=)
c.34T>C
c.191T>C
n.2315T>C
c.2220T>C (p.Thr740=)
12g.51751410T>GCA480061027SCN8Ac.2187T>G (p.Thr729=)
c.34T>G
c.191T>G
n.2315T>G
c.2220T>G (p.Thr740=)
12g.51751411T>ACA384879809SCN8Ac.2188T>A (p.Phe730Ile)
c.35T>A
c.192T>A
n.2316T>A
c.2221T>A (p.Phe741Ile)
 dbSNP gnomAD v2 gnomAD v4
12g.51751411T>CCA236311206SCN8Ac.2188T>C (p.Phe730Leu)
c.35T>C
c.192T>C
n.2316T>C
c.2221T>C (p.Phe741Leu)
 ClinVar dbSNP
12g.51751411T>GCA384879810SCN8Ac.2188T>G (p.Phe730Val)
c.35T>G
c.192T>G
n.2316T>G
c.2221T>G (p.Phe741Val)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.51751411T=CA2036196169SCN8Ac.2188T= (p.Phe730=)
c.35T=
c.192T=
n.2316T=
c.2221T= (p.Phe741=)
12g.51751412T>ACA384879811SCN8Ac.2189T>A (p.Phe730Tyr)
c.36T>A
c.193T>A
n.2317T>A
c.2222T>A (p.Phe741Tyr)
12g.51751412T>CCA384879812SCN8Ac.2189T>C (p.Phe730Ser)
c.36T>C
c.193T>C
n.2317T>C
c.2222T>C (p.Phe741Ser)
12g.51751412T>GCA384879813SCN8Ac.2189T>G (p.Phe730Cys)
c.36T>G
c.193T>G
n.2317T>G
c.2222T>G (p.Phe741Cys)
12g.51751413C>ACA384879814SCN8Ac.2190C>A (p.Phe730Leu)
c.37C>A
c.194C>A
n.2318C>A
c.2223C>A (p.Phe741Leu)
12g.51751413C=CA2036196177SCN8Ac.2190C= (p.Phe730=)
c.37C=
c.194C=
n.2318C=
c.2223C= (p.Phe741=)
12g.51751413C>GCA384879815SCN8Ac.2190C>G (p.Phe730Leu)
c.37C>G
c.194C>G
n.2318C>G
c.2223C>G (p.Phe741Leu)
12g.51751413C>TCA480061029SCN8Ac.2190C>T (p.Phe730=)
c.37C>T
c.194C>T
n.2318C>T
c.2223C>T (p.Phe741=)
 ClinVar dbSNP
12g.51751414C>ACA384879818SCN8Ac.2191C>A (p.Leu731Ile)
c.38C>A
c.195C>A
n.2319C>A
c.2224C>A (p.Leu742Ile)
12g.51751414C>GCA384879817SCN8Ac.2191C>G (p.Leu731Val)
c.38C>G
c.195C>G
n.2319C>G
c.2224C>G (p.Leu742Val)
12g.51751414C>TCA384879816SCN8Ac.2191C>T (p.Leu731Phe)
c.38C>T
c.195C>T
n.2319C>T
c.2224C>T (p.Leu742Phe)
 COSMIC COSMIC
12g.51751415T>ACA384879819SCN8Ac.2192T>A (p.Leu731His)
c.39T>A
c.196T>A
n.2320T>A
c.2225T>A (p.Leu742His)
12g.51751415T>CCA384879820SCN8Ac.2192T>C (p.Leu731Pro)
c.39T>C
c.196T>C
n.2320T>C
c.2225T>C (p.Leu742Pro)
12g.51751415T>GCA384879821SCN8Ac.2192T>G (p.Leu731Arg)
c.39T>G
c.196T>G
n.2320T>G
c.2225T>G (p.Leu742Arg)
12g.51751416C>ACA480061030SCN8Ac.2193C>A (p.Leu731=)
c.40C>A
c.197C>A
n.2321C>A
c.2226C>A (p.Leu742=)
 gnomAD v4
12g.51751416C=CA2036196182SCN8Ac.2193C= (p.Leu731=)
c.40C=
c.197C=
n.2321C=
c.2226C= (p.Leu742=)
12g.51751416C>GCA480061031SCN8Ac.2193C>G (p.Leu731=)
c.40C>G
c.197C>G
n.2321C>G
c.2226C>G (p.Leu742=)
12g.51751416C>TCA480061032SCN8Ac.2193C>T (p.Leu731=)
c.40C>T
c.197C>T
n.2321C>T
c.2226C>T (p.Leu742=)
 dbSNP gnomAD v2
12g.51751417A=CA2036196190SCN8Ac.2194A= (p.Ile732=)
c.41A=
c.198A=
n.2322A=
c.2227A= (p.Ile743=)
12g.51751417A>CCA384879822SCN8Ac.2194A>C (p.Ile732Leu)
c.41A>C
c.198A>C
n.2322A>C
c.2227A>C (p.Ile743Leu)
12g.51751417A>GCA384879823SCN8Ac.2194A>G (p.Ile732Val)
c.41A>G
c.198A>G
n.2322A>G
c.2227A>G (p.Ile743Val)
 ClinVar dbSNP
12g.51751417A>TCA384879824SCN8Ac.2194A>T (p.Ile732Phe)
c.41A>T
c.198A>T
n.2322A>T
c.2227A>T (p.Ile743Phe)
12g.51751418T>ACA384879825SCN8Ac.2195T>A (p.Ile732Asn)
c.42T>A
c.199T>A
n.2323T>A
c.2228T>A (p.Ile743Asn)
12g.51751418T>CCA384879826SCN8Ac.2195T>C (p.Ile732Thr)
c.42T>C
c.199T>C
n.2323T>C
c.2228T>C (p.Ile743Thr)
12g.51751418T>GCA384879827SCN8Ac.2195T>G (p.Ile732Ser)
c.42T>G
c.199T>G
n.2323T>G
c.2228T>G (p.Ile743Ser)
12g.51751419C>ACA480061036SCN8Ac.2196C>A (p.Ile732=)
c.43C>A
c.200C>A
n.2324C>A
c.2229C>A (p.Ile743=)
 dbSNP gnomAD v3 gnomAD v4
12g.51751419C=CA2036196197SCN8Ac.2196C= (p.Ile732=)
c.43C=
c.200C=
n.2324C=
c.2229C= (p.Ile743=)
12g.51751419C>GCA384879828SCN8Ac.2196C>G (p.Ile732Met)
c.43C>G
c.200C>G
n.2324C>G
c.2229C>G (p.Ile743Met)
 ClinVar
12g.51751419C>TCA480061037SCN8Ac.2196C>T (p.Ile732=)
c.43C>T
c.200C>T
n.2324C>T
c.2229C>T (p.Ile743=)
12g.51751420T>ACA384879829SCN8Ac.2197T>A (p.Trp733Arg)
c.44T>A
c.201T>A
n.2325T>A
c.2230T>A (p.Trp744Arg)
12g.51751420T>CCA384879830SCN8Ac.2197T>C (p.Trp733Arg)
c.44T>C
c.201T>C
n.2325T>C
c.2230T>C (p.Trp744Arg)
 gnomAD v4
12g.51751420T>GCA384879831SCN8Ac.2197T>G (p.Trp733Gly)
c.44T>G
c.201T>G
n.2325T>G
c.2230T>G (p.Trp744Gly)
12g.51751421G>ACA384879834SCN8Ac.2198G>A (p.Trp733Ter)
c.45G>A
c.202G>A
n.2326G>A
c.2231G>A (p.Trp744Ter)
12g.51751421G>CCA384879833SCN8Ac.2198G>C (p.Trp733Ser)
c.45G>C
c.202G>C
n.2326G>C
c.2231G>C (p.Trp744Ser)
12g.51751421G>TCA384879832SCN8Ac.2198G>T (p.Trp733Leu)
c.45G>T
c.202G>T
n.2326G>T
c.2231G>T (p.Trp744Leu)
12g.51751423delCA2726346117SCN8Ac.2200del (p.Glu734SerfsTer7)
c.47del
c.204del
n.2328del
c.2233del (p.Glu745SerfsTer7)
 dbSNP
12g.51751422G>ACA384879837SCN8Ac.2199G>A (p.Trp733Ter)
c.46G>A
c.203G>A
n.2327G>A
c.2232G>A (p.Trp744Ter)
 dbSNP
12g.51751422G>CCA384879835SCN8Ac.2199G>C (p.Trp733Cys)
c.46G>C
c.203G>C
n.2327G>C
c.2232G>C (p.Trp744Cys)
12g.51751422G=CA2036196202SCN8Ac.2199G= (p.Trp733=)
c.46G=
c.203G=
n.2327G=
c.2232G= (p.Trp744=)
12g.51751422G>TCA384879836SCN8Ac.2199G>T (p.Trp733Cys)
c.46G>T
c.203G>T
n.2327G>T
c.2232G>T (p.Trp744Cys)
12g.51751423G>ACA6571452SCN8Ac.2200G>A (p.Glu734Lys)
c.47G>A
c.204G>A
n.2328G>A
c.2233G>A (p.Glu745Lys)
 dbSNP ExAC
12g.51751423G>CCA384879838SCN8Ac.2200G>C (p.Glu734Gln)
c.47G>C
c.204G>C
n.2328G>C
c.2233G>C (p.Glu745Gln)
12g.51751423G=CA2036196205SCN8Ac.2200G= (p.Glu734=)
c.47G=
c.204G=
n.2328G=
c.2233G= (p.Glu745=)
12g.51751423G>TCA384879839SCN8Ac.2200G>T (p.Glu734Ter)
c.47G>T
c.204G>T
n.2328G>T
c.2233G>T (p.Glu745Ter)
 dbSNP

Number of alleles fetched