Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.51751394A=CA2036196135SCN8Ac.2171A= (p.Tyr724=)
c.18A=
c.175A=
n.2299A=
c.2204A= (p.Tyr735=)
12g.51751394A>CCA384879770SCN8Ac.2171A>C (p.Tyr724Ser)
c.18A>C
c.175A>C
n.2299A>C
c.2204A>C (p.Tyr735Ser)
12g.51751394A>GCA384879771SCN8Ac.2171A>G (p.Tyr724Cys)
c.18A>G
c.175A>G
n.2299A>G
c.2204A>G (p.Tyr735Cys)
 ClinVar dbSNP gnomAD v4
12g.51751394A>TCA384879772SCN8Ac.2171A>T (p.Tyr724Phe)
c.18A>T
c.175A>T
n.2299A>T
c.2204A>T (p.Tyr735Phe)
12g.51751395T>ACA384879773SCN8Ac.2172T>A (p.Tyr724Ter)
c.19T>A
c.176T>A
n.2300T>A
c.2205T>A (p.Tyr735Ter)
12g.51751395T>CCA480060925SCN8Ac.2172T>C (p.Tyr724=)
c.19T>C
c.176T>C
n.2300T>C
c.2205T>C (p.Tyr735=)
12g.51751395T>GCA384879774SCN8Ac.2172T>G (p.Tyr724Ter)
c.19T>G
c.176T>G
n.2300T>G
c.2205T>G (p.Tyr735Ter)
12g.51751396A=CA2036196139SCN8Ac.2173A= (p.Lys725=)
c.20A=
c.177A=
n.2301A=
c.2206A= (p.Lys736=)
12g.51751396A>CCA384879775SCN8Ac.2173A>C (p.Lys725Gln)
c.20A>C
c.177A>C
n.2301A>C
c.2206A>C (p.Lys736Gln)
12g.51751396A>GCA6571450SCN8Ac.2173A>G (p.Lys725Glu)
c.20A>G
c.177A>G
n.2301A>G
c.2206A>G (p.Lys736Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.51751396A>TCA384879776SCN8Ac.2173A>T (p.Lys725Ter)
c.20A>T
c.177A>T
n.2301A>T
c.2206A>T (p.Lys736Ter)
 dbSNP
12g.51751397A=CA2036196143SCN8Ac.2174A= (p.Lys725=)
c.21A=
c.178A=
n.2302A=
c.2207A= (p.Lys736=)
12g.51751397A>CCA384879777SCN8Ac.2174A>C (p.Lys725Thr)
c.21A>C
c.178A>C
n.2302A>C
c.2207A>C (p.Lys736Thr)
12g.51751397A>GCA384879778SCN8Ac.2174A>G (p.Lys725Arg)
c.21A>G
c.178A>G
n.2302A>G
c.2207A>G (p.Lys736Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.51751397A>TCA384879779SCN8Ac.2174A>T (p.Lys725Ile)
c.21A>T
c.178A>T
n.2302A>T
c.2207A>T (p.Lys736Ile)
 ClinVar dbSNP gnomAD v2 gnomAD v4
12g.51751398A>CCA384879780SCN8Ac.2175A>C (p.Lys725Asn)
c.22A>C
c.179A>C
n.2303A>C
c.2208A>C (p.Lys736Asn)
12g.51751398A>GCA480060926SCN8Ac.2175A>G (p.Lys725=)
c.22A>G
c.179A>G
n.2303A>G
c.2208A>G (p.Lys736=)
12g.51751398A>TCA384879781SCN8Ac.2175A>T (p.Lys725Asn)
c.22A>T
c.179A>T
n.2303A>T
c.2208A>T (p.Lys736Asn)
12g.51751399T>ACA384879782SCN8Ac.2176T>A (p.Phe726Ile)
c.23T>A
c.180T>A
n.2304T>A
c.2209T>A (p.Phe737Ile)
12g.51751399T>CCA384879783SCN8Ac.2176T>C (p.Phe726Leu)
c.23T>C
c.180T>C
n.2304T>C
c.2209T>C (p.Phe737Leu)
12g.51751399T>GCA384879784SCN8Ac.2176T>G (p.Phe726Val)
c.23T>G
c.180T>G
n.2304T>G
c.2209T>G (p.Phe737Val)
12g.51751400T>ACA384879785SCN8Ac.2177T>A (p.Phe726Tyr)
c.24T>A
c.181T>A
n.2305T>A
c.2210T>A (p.Phe737Tyr)
12g.51751400T>CCA384879786SCN8Ac.2177T>C (p.Phe726Ser)
c.24T>C
c.181T>C
n.2305T>C
c.2210T>C (p.Phe737Ser)
12g.51751400T>GCA384879787SCN8Ac.2177T>G (p.Phe726Cys)
c.24T>G
c.181T>G
n.2305T>G
c.2210T>G (p.Phe737Cys)
12g.51751401T>ACA384879788SCN8Ac.2178T>A (p.Phe726Leu)
c.25T>A
c.182T>A
n.2306T>A
c.2211T>A (p.Phe737Leu)
12g.51751401T>CCA480060927SCN8Ac.2178T>C (p.Phe726=)
c.25T>C
c.182T>C
n.2306T>C
c.2211T>C (p.Phe737=)
12g.51751401T>GCA384879789SCN8Ac.2178T>G (p.Phe726Leu)
c.25T>G
c.182T>G
n.2306T>G
c.2211T>G (p.Phe737Leu)
12g.51751402G>ACA384879790SCN8Ac.2179G>A (p.Ala727Thr)
c.26G>A
c.183G>A
n.2307G>A
c.2212G>A (p.Ala738Thr)
12g.51751402G>CCA384879791SCN8Ac.2179G>C (p.Ala727Pro)
c.26G>C
c.183G>C
n.2307G>C
c.2212G>C (p.Ala738Pro)
12g.51751402G>TCA384879792SCN8Ac.2179G>T (p.Ala727Ser)
c.26G>T
c.183G>T
n.2307G>T
c.2212G>T (p.Ala738Ser)
12g.51751403C>ACA384879793SCN8Ac.2180C>A (p.Ala727Asp)
c.27C>A
c.184C>A
n.2308C>A
c.2213C>A (p.Ala738Asp)
12g.51751403C>GCA384879794SCN8Ac.2180C>G (p.Ala727Gly)
c.27C>G
c.184C>G
n.2308C>G
c.2213C>G (p.Ala738Gly)
12g.51751403C>TCA384879795SCN8Ac.2180C>T (p.Ala727Val)
c.27C>T
c.184C>T
n.2308C>T
c.2213C>T (p.Ala738Val)
12g.51751404C>ACA480060928SCN8Ac.2181C>A (p.Ala727=)
c.28C>A
c.185C>A
n.2309C>A
c.2214C>A (p.Ala738=)
12g.51751404C>GCA480060929SCN8Ac.2181C>G (p.Ala727=)
c.28C>G
c.185C>G
n.2309C>G
c.2214C>G (p.Ala738=)
 gnomAD v4
12g.51751404C>TCA480060930SCN8Ac.2181C>T (p.Ala727=)
c.28C>T
c.185C>T
n.2309C>T
c.2214C>T (p.Ala738=)
12g.51751405A>CCA384879796SCN8Ac.2182A>C (p.Asn728His)
c.29A>C
c.186A>C
n.2310A>C
c.2215A>C (p.Asn739His)
12g.51751405A>GCA384879797SCN8Ac.2182A>G (p.Asn728Asp)
c.29A>G
c.186A>G
n.2310A>G
c.2215A>G (p.Asn739Asp)
12g.51751405A>TCA384879798SCN8Ac.2182A>T (p.Asn728Tyr)
c.29A>T
c.186A>T
n.2310A>T
c.2215A>T (p.Asn739Tyr)
12g.51751406A>CCA384879799SCN8Ac.2183A>C (p.Asn728Thr)
c.30A>C
c.187A>C
n.2311A>C
c.2216A>C (p.Asn739Thr)
12g.51751406A>GCA384879800SCN8Ac.2183A>G (p.Asn728Ser)
c.30A>G
c.187A>G
n.2311A>G
c.2216A>G (p.Asn739Ser)
12g.51751406A>TCA384879801SCN8Ac.2183A>T (p.Asn728Ile)
c.30A>T
c.187A>T
n.2311A>T
c.2216A>T (p.Asn739Ile)
12g.51751407C>ACA384879803SCN8Ac.2184C>A (p.Asn728Lys)
c.31C>A
c.188C>A
n.2312C>A
c.2217C>A (p.Asn739Lys)
12g.51751407C=CA2036196147SCN8Ac.2184C= (p.Asn728=)
c.31C=
c.188C=
n.2312C=
c.2217C= (p.Asn739=)
12g.51751407C>GCA384879802SCN8Ac.2184C>G (p.Asn728Lys)
c.31C>G
c.188C>G
n.2312C>G
c.2217C>G (p.Asn739Lys)
12g.51751407C>TCA6571451SCN8Ac.2184C>T (p.Asn728=)
c.31C>T
c.188C>T
n.2312C>T
c.2217C>T (p.Asn739=)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.51751408A=CA2036196153SCN8Ac.2185A= (p.Thr729=)
c.32A=
c.189A=
n.2313A=
c.2218A= (p.Thr740=)
12g.51751408A>CCA384879805SCN8Ac.2185A>C (p.Thr729Pro)
c.32A>C
c.189A>C
n.2313A>C
c.2218A>C (p.Thr740Pro)
 ClinVar dbSNP gnomAD v4
12g.51751408A>GCA384879804SCN8Ac.2185A>G (p.Thr729Ala)
c.32A>G
c.189A>G
n.2313A>G
c.2218A>G (p.Thr740Ala)
 dbSNP
12g.51751408A>TCA384879806SCN8Ac.2185A>T (p.Thr729Ser)
c.32A>T
c.189A>T
n.2313A>T
c.2218A>T (p.Thr740Ser)
12g.51751409C>ACA384879807SCN8Ac.2186C>A (p.Thr729Asn)
c.33C>A
c.190C>A
n.2314C>A
c.2219C>A (p.Thr740Asn)
 COSMIC COSMIC
12g.51751409C=CA2036196158SCN8Ac.2186C= (p.Thr729=)
c.33C=
c.190C=
n.2314C=
c.2219C= (p.Thr740=)
12g.51751409C>GCA236311203SCN8Ac.2186C>G (p.Thr729Ser)
c.33C>G
c.190C>G
n.2314C>G
c.2219C>G (p.Thr740Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v4
12g.51751409C>TCA384879808SCN8Ac.2186C>T (p.Thr729Ile)
c.33C>T
c.190C>T
n.2314C>T
c.2219C>T (p.Thr740Ile)
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
12g.51751424A>CCA384879840SCN8Ac.2201A>C (p.Glu734Ala)
c.48A>C
c.205A>C
n.2329A>C
c.2234A>C (p.Glu745Ala)
12g.51751424A>GCA384879841SCN8Ac.2201A>G (p.Glu734Gly)
c.48A>G
c.205A>G
n.2329A>G
c.2234A>G (p.Glu745Gly)
12g.51751424A>TCA384879842SCN8Ac.2201A>T (p.Glu734Val)
c.48A>T
c.205A>T
n.2329A>T
c.2234A>T (p.Glu745Val)
 gnomAD v4
12g.51751425G>ACA480061039SCN8Ac.2202G>A (p.Glu734=)
c.49G>A
c.206G>A
n.2330G>A
c.2235G>A (p.Glu745=)
 gnomAD v4
12g.51751425G>CCA384879843SCN8Ac.2202G>C (p.Glu734Asp)
c.49G>C
c.206G>C
n.2330G>C
c.2235G>C (p.Glu745Asp)
12g.51751425G>TCA384879844SCN8Ac.2202G>T (p.Glu734Asp)
c.49G>T
c.206G>T
n.2330G>T
c.2235G>T (p.Glu745Asp)
 gnomAD v4
12g.51751426T>ACA384879845SCN8Ac.2203T>A (p.Cys735Ser)
c.50T>A
c.207T>A
n.2331T>A
c.2236T>A (p.Cys746Ser)
12g.51751426T>CCA384879846SCN8Ac.2203T>C (p.Cys735Arg)
c.50T>C
c.207T>C
n.2331T>C
c.2236T>C (p.Cys746Arg)
 COSMIC
12g.51751426T>GCA384879847SCN8Ac.2203T>G (p.Cys735Gly)
c.50T>G
c.207T>G
n.2331T>G
c.2236T>G (p.Cys746Gly)
12g.51751427G>ACA384879850SCN8Ac.2204G>A (p.Cys735Tyr)
c.51G>A
c.208G>A
n.2332G>A
c.2237G>A (p.Cys746Tyr)
12g.51751427G>CCA384879848SCN8Ac.2204G>C (p.Cys735Ser)
c.51G>C
c.208G>C
n.2332G>C
c.2237G>C (p.Cys746Ser)
12g.51751427G>TCA384879849SCN8Ac.2204G>T (p.Cys735Phe)
c.51G>T
c.208G>T
n.2332G>T
c.2237G>T (p.Cys746Phe)
12g.51751428C>ACA384879851SCN8Ac.2205C>A (p.Cys735Ter)
c.52C>A
c.209C>A
n.2333C>A
c.2238C>A (p.Cys746Ter)
 dbSNP
12g.51751428C=CA2036196209SCN8Ac.2205C= (p.Cys735=)
c.52C=
c.209C=
n.2333C=
c.2238C= (p.Cys746=)
12g.51751428C>GCA384879852SCN8Ac.2205C>G (p.Cys735Trp)
c.52C>G
c.209C>G
n.2333C>G
c.2238C>G (p.Cys746Trp)
12g.51751428C>TCA480061047SCN8Ac.2205C>T (p.Cys735=)
c.52C>T
c.209C>T
n.2333C>T
c.2238C>T (p.Cys746=)
12g.51751429C>ACA384879853SCN8Ac.2206C>A (p.His736Asn)
c.53C>A
c.210C>A
n.2334C>A
c.2239C>A (p.His747Asn)
12g.51751429C=CA2036196212SCN8Ac.2206C= (p.His736=)
c.53C=
c.210C=
n.2334C=
c.2239C= (p.His747=)
12g.51751429C>GCA384879854SCN8Ac.2206C>G (p.His736Asp)
c.53C>G
c.210C>G
n.2334C>G
c.2239C>G (p.His747Asp)
12g.51751429C>TCA384879855SCN8Ac.2206C>T (p.His736Tyr)
c.53C>T
c.210C>T
n.2334C>T
c.2239C>T (p.His747Tyr)
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
12g.51751430A>CCA384879856SCN8Ac.2207A>C (p.His736Pro)
c.54A>C
c.211A>C
n.2335A>C
c.2240A>C (p.His747Pro)
12g.51751430A>GCA384879857SCN8Ac.2207A>G (p.His736Arg)
c.54A>G
c.211A>G
n.2335A>G
c.2240A>G (p.His747Arg)
 gnomAD v4
12g.51751430A>TCA384879858SCN8Ac.2207A>T (p.His736Leu)
c.54A>T
c.211A>T
n.2335A>T
c.2240A>T (p.His747Leu)
 gnomAD v4
12g.51751431C>ACA384879859SCN8Ac.2208C>A (p.His736Gln)
c.55C>A
c.212C>A
n.2336C>A
c.2241C>A (p.His747Gln)
12g.51751431C>GCA384879860SCN8Ac.2208C>G (p.His736Gln)
c.55C>G
c.212C>G
n.2336C>G
c.2241C>G (p.His747Gln)
 gnomAD v4
12g.51751431C>TCA480061052SCN8Ac.2208C>T (p.His736=)
c.55C>T
c.212C>T
n.2336C>T
c.2241C>T (p.His747=)
12g.51751432C>ACA384879861SCN8Ac.2209C>A (p.Pro737Thr)
c.56C>A
c.213C>A
n.2337C>A
c.2242C>A (p.Pro748Thr)
 gnomAD v4
12g.51751432C>GCA384879862SCN8Ac.2209C>G (p.Pro737Ala)
c.56C>G
c.213C>G
n.2337C>G
c.2242C>G (p.Pro748Ala)
 gnomAD v4
12g.51751432C>TCA384879863SCN8Ac.2209C>T (p.Pro737Ser)
c.56C>T
c.213C>T
n.2337C>T
c.2242C>T (p.Pro748Ser)
12g.51751433C>ACA384879865SCN8Ac.2210C>A (p.Pro737His)
c.57C>A
c.214C>A
n.2338C>A
c.2243C>A (p.Pro748His)
12g.51751433C>GCA384879866SCN8Ac.2210C>G (p.Pro737Arg)
c.57C>G
c.214C>G
n.2338C>G
c.2243C>G (p.Pro748Arg)
12g.51751433C>TCA384879864SCN8Ac.2210C>T (p.Pro737Leu)
c.57C>T
c.214C>T
n.2338C>T
c.2243C>T (p.Pro748Leu)
12g.51751434C>ACA480061056SCN8Ac.2211C>A (p.Pro737=)
c.58C>A
c.215C>A
n.2339C>A
c.2244C>A (p.Pro748=)
12g.51751434C=CA2036196214SCN8Ac.2211C= (p.Pro737=)
c.58C=
c.215C=
n.2339C=
c.2244C= (p.Pro748=)
12g.51751434C>GCA480061057SCN8Ac.2211C>G (p.Pro737=)
c.58C>G
c.215C>G
n.2339C>G
c.2244C>G (p.Pro748=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.51751434C>TCA480061058SCN8Ac.2211C>T (p.Pro737=)
c.58C>T
c.215C>T
n.2339C>T
c.2244C>T (p.Pro748=)
 dbSNP gnomAD v2 gnomAD v4
12g.51751435T>ACA384879867SCN8Ac.2212T>A (p.Tyr738Asn)
c.59T>A
c.216T>A
n.2340T>A
c.2245T>A (p.Tyr749Asn)
12g.51751435T>CCA384879869SCN8Ac.2212T>C (p.Tyr738His)
c.59T>C
c.216T>C
n.2340T>C
c.2245T>C (p.Tyr749His)
12g.51751435T>GCA384879868SCN8Ac.2212T>G (p.Tyr738Asp)
c.59T>G
c.216T>G
n.2340T>G
c.2245T>G (p.Tyr749Asp)
12g.51751436A>CCA384879870SCN8Ac.2213A>C (p.Tyr738Ser)
c.60A>C
c.217A>C
n.2341A>C
c.2246A>C (p.Tyr749Ser)
12g.51751436A>GCA384879871SCN8Ac.2213A>G (p.Tyr738Cys)
c.60A>G
c.217A>G
n.2341A>G
c.2246A>G (p.Tyr749Cys)
12g.51751436A>TCA384879872SCN8Ac.2213A>T (p.Tyr738Phe)
c.60A>T
c.217A>T
n.2341A>T
c.2246A>T (p.Tyr749Phe)
12g.51751437C>ACA384879873SCN8Ac.2214C>A (p.Tyr738Ter)
c.61C>A
c.218C>A
n.2342C>A
c.2247C>A (p.Tyr749Ter)
12g.51751437C>GCA384879874SCN8Ac.2214C>G (p.Tyr738Ter)
c.61C>G
c.218C>G
n.2342C>G
c.2247C>G (p.Tyr749Ter)
12g.51751437C>TCA480061061SCN8Ac.2214C>T (p.Tyr738=)
c.61C>T
c.218C>T
n.2342C>T
c.2247C>T (p.Tyr749=)
 gnomAD v4
12g.51751438T>ACA384879875SCN8Ac.2215T>A (p.Trp739Arg)
c.62T>A
c.219T>A
n.2343T>A
c.2248T>A (p.Trp750Arg)
12g.51751438T>CCA384879876SCN8Ac.2215T>C (p.Trp739Arg)
c.62T>C
c.219T>C
n.2343T>C
c.2248T>C (p.Trp750Arg)
12g.51751438T>GCA384879877SCN8Ac.2215T>G (p.Trp739Gly)
c.62T>G
c.219T>G
n.2343T>G
c.2248T>G (p.Trp750Gly)
12g.51751439G>ACA384879878SCN8Ac.2216G>A (p.Trp739Ter)
c.63G>A
c.220G>A
n.2344G>A
c.2249G>A (p.Trp750Ter)
12g.51751439G>CCA384879879SCN8Ac.2216G>C (p.Trp739Ser)
c.63G>C
c.220G>C
n.2344G>C
c.2249G>C (p.Trp750Ser)
12g.51751439G>TCA384879880SCN8Ac.2216G>T (p.Trp739Leu)
c.63G>T
c.220G>T
n.2344G>T
c.2249G>T (p.Trp750Leu)
12g.51751440G>ACA384879883SCN8Ac.2217G>A (p.Trp739Ter)
c.64G>A
c.221G>A
n.2345G>A
c.2250G>A (p.Trp750Ter)
 dbSNP
12g.51751440G>CCA384879882SCN8Ac.2217G>C (p.Trp739Cys)
c.64G>C
c.221G>C
n.2345G>C
c.2250G>C (p.Trp750Cys)
12g.51751440G=CA2036196216SCN8Ac.2217G= (p.Trp739=)
c.64G=
c.221G=
n.2345G=
c.2250G= (p.Trp750=)
12g.51751440G>TCA384879881SCN8Ac.2217G>T (p.Trp739Cys)
c.64G>T
c.221G>T
n.2345G>T
c.2250G>T (p.Trp750Cys)
12g.51751441A>CCA384879884SCN8Ac.2218A>C (p.Ile740Leu)
c.65A>C
c.222A>C
n.2346A>C
c.2251A>C (p.Ile751Leu)
12g.51751441A>GCA384879885SCN8Ac.2218A>G (p.Ile740Val)
c.65A>G
c.222A>G
n.2346A>G
c.2251A>G (p.Ile751Val)
12g.51751441A>TCA384879886SCN8Ac.2218A>T (p.Ile740Leu)
c.65A>T
c.222A>T
n.2346A>T
c.2251A>T (p.Ile751Leu)
12g.51751442T>ACA384879887SCN8Ac.2219T>A (p.Ile740Lys)
c.66T>A
c.223T>A
n.2347T>A
c.2252T>A (p.Ile751Lys)
 dbSNP
12g.51751442T>CCA384879888SCN8Ac.2219T>C (p.Ile740Thr)
c.66T>C
c.223T>C
n.2347T>C
c.2252T>C (p.Ile751Thr)
12g.51751442T>GCA384879889SCN8Ac.2219T>G (p.Ile740Arg)
c.66T>G
c.223T>G
n.2347T>G
c.2252T>G (p.Ile751Arg)
12g.51751442T=CA2036196219SCN8Ac.2219T= (p.Ile740=)
c.66T=
c.223T=
n.2347T=
c.2252T= (p.Ile751=)
12g.51751443A>CCA480061065SCN8Ac.2220A>C (p.Ile740=)
c.67A>C
c.224A>C
n.2348A>C
c.2253A>C (p.Ile751=)
12g.51751443A>GCA384879890SCN8Ac.2220A>G (p.Ile740Met)
c.67A>G
c.224A>G
n.2348A>G
c.2253A>G (p.Ile751Met)
12g.51751443A>TCA480061066SCN8Ac.2220A>T (p.Ile740=)
c.67A>T
c.224A>T
n.2348A>T
c.2253A>T (p.Ile751=)
12g.51751444A=CA2036196220SCN8Ac.2221A= (p.Lys741=)
c.68A=
c.225A=
n.2349A=
c.2254A= (p.Lys752=)
12g.51751444A>CCA384879891SCN8Ac.2221A>C (p.Lys741Gln)
c.68A>C
c.225A>C
n.2349A>C
c.2254A>C (p.Lys752Gln)
12g.51751444A>GCA384879892SCN8Ac.2221A>G (p.Lys741Glu)
c.68A>G
c.225A>G
n.2349A>G
c.2254A>G (p.Lys752Glu)
12g.51751444A>TCA384879893SCN8Ac.2221A>T (p.Lys741Ter)
c.68A>T
c.225A>T
n.2349A>T
c.2254A>T (p.Lys752Ter)
 dbSNP
12g.51751445A>CCA384879894SCN8Ac.2222A>C (p.Lys741Thr)
c.69A>C
c.226A>C
n.2350A>C
c.2255A>C (p.Lys752Thr)
12g.51751445A>GCA384879895SCN8Ac.2222A>G (p.Lys741Arg)
c.69A>G
c.226A>G
n.2350A>G
c.2255A>G (p.Lys752Arg)
12g.51751445A>TCA384879896SCN8Ac.2222A>T (p.Lys741Ile)
c.69A>T
c.226A>T
n.2350A>T
c.2255A>T (p.Lys752Ile)
12g.51751446A>CCA384879897SCN8Ac.2223A>C (p.Lys741Asn)
c.70A>C
c.227A>C
n.2351A>C
c.2256A>C (p.Lys752Asn)
12g.51751446A>GCA480061067SCN8Ac.2223A>G (p.Lys741=)
c.70A>G
c.227A>G
n.2351A>G
c.2256A>G (p.Lys752=)
12g.51751446A>TCA384879898SCN8Ac.2223A>T (p.Lys741Asn)
c.70A>T
c.227A>T
n.2351A>T
c.2256A>T (p.Lys752Asn)
12g.51751447C>ACA236311216SCN8Ac.2224C>A (p.Leu742Met)
c.71C>A
c.228C>A
n.2352C>A
c.2257C>A (p.Leu753Met)
 dbSNP
12g.51751447C=CA2036196222SCN8Ac.2224C= (p.Leu742=)
c.71C=
c.228C=
n.2352C=
c.2257C= (p.Leu753=)
12g.51751447C>GCA384879899SCN8Ac.2224C>G (p.Leu742Val)
c.71C>G
c.228C>G
n.2352C>G
c.2257C>G (p.Leu753Val)
12g.51751447C>TCA480061070SCN8Ac.2224C>T (p.Leu742=)
c.71C>T
c.228C>T
n.2352C>T
c.2257C>T (p.Leu753=)
 gnomAD v4
12g.51751448T>ACA384879900SCN8Ac.2225T>A (p.Leu742Gln)
c.72T>A
c.229T>A
n.2353T>A
c.2258T>A (p.Leu753Gln)
12g.51751448T>CCA384879901SCN8Ac.2225T>C (p.Leu742Pro)
c.72T>C
c.229T>C
n.2353T>C
c.2258T>C (p.Leu753Pro)
 ClinVar
12g.51751448T>GCA384879902SCN8Ac.2225T>G (p.Leu742Arg)
c.72T>G
c.229T>G
n.2353T>G
c.2258T>G (p.Leu753Arg)
12g.51751449G>ACA480061074SCN8Ac.2226G>A (p.Leu742=)
c.73G>A
c.230G>A
n.2354G>A
c.2259G>A (p.Leu753=)
 dbSNP
12g.51751449G>CCA480061075SCN8Ac.2226G>C (p.Leu742=)
c.73G>C
c.230G>C
n.2354G>C
c.2259G>C (p.Leu753=)
12g.51751449G=CA2036196224SCN8Ac.2226G= (p.Leu742=)
c.73G=
c.230G=
n.2354G=
c.2259G= (p.Leu753=)
12g.51751449G>TCA480061076SCN8Ac.2226G>T (p.Leu742=)
c.73G>T
c.230G>T
n.2354G>T
c.2259G>T (p.Leu753=)
12g.51751450A=CA2036196227SCN8Ac.2227A= (p.Lys743=)
c.74A=
c.231A=
n.2355A=
c.2260A= (p.Lys754=)
12g.51751450A>CCA384879903SCN8Ac.2227A>C (p.Lys743Gln)
c.74A>C
c.231A>C
n.2355A>C
c.2260A>C (p.Lys754Gln)
12g.51751450A>GCA384879904SCN8Ac.2227A>G (p.Lys743Glu)
c.74A>G
c.231A>G
n.2355A>G
c.2260A>G (p.Lys754Glu)
12g.51751450A>TCA384879905SCN8Ac.2227A>T (p.Lys743Ter)
c.74A>T
c.231A>T
n.2355A>T
c.2260A>T (p.Lys754Ter)
 dbSNP
12g.51751451A>CCA384879906SCN8Ac.2228A>C (p.Lys743Thr)
c.75A>C
c.232A>C
n.2356A>C
c.2261A>C (p.Lys754Thr)
12g.51751451A>GCA384879907SCN8Ac.2228A>G (p.Lys743Arg)
c.75A>G
c.232A>G
n.2356A>G
c.2261A>G (p.Lys754Arg)
12g.51751451A>TCA384879908SCN8Ac.2228A>T (p.Lys743Ile)
c.75A>T
c.232A>T
n.2356A>T
c.2261A>T (p.Lys754Ile)
12g.51751452A>CCA384879909SCN8Ac.2229A>C (p.Lys743Asn)
c.76A>C
c.233A>C
n.2357A>C
c.2262A>C (p.Lys754Asn)
12g.51751452A>GCA480061080SCN8Ac.2229A>G (p.Lys743=)
c.76A>G
c.233A>G
n.2357A>G
c.2262A>G (p.Lys754=)
12g.51751452A>TCA384879910SCN8Ac.2229A>T (p.Lys743Asn)
c.76A>T
c.233A>T
n.2357A>T
c.2262A>T (p.Lys754Asn)
12g.51751453G>ACA384879913SCN8Ac.2230G>A (p.Glu744Lys)
c.77G>A
c.234G>A
n.2358G>A
c.2263G>A (p.Glu755Lys)
12g.51751453G>CCA384879911SCN8Ac.2230G>C (p.Glu744Gln)
c.77G>C
c.234G>C
n.2358G>C
c.2263G>C (p.Glu755Gln)
12g.51751453G=CA2036196232SCN8Ac.2230G= (p.Glu744=)
c.77G=
c.234G=
n.2358G=
c.2263G= (p.Glu755=)
12g.51751453G>TCA384879912SCN8Ac.2230G>T (p.Glu744Ter)
c.77G>T
c.234G>T
n.2358G>T
c.2263G>T (p.Glu755Ter)
 dbSNP
12g.51751454A>CCA384879914SCN8Ac.2231A>C (p.Glu744Ala)
c.78A>C
c.235A>C
n.2359A>C
c.2264A>C (p.Glu755Ala)
 gnomAD v4
12g.51751454A>GCA384879915SCN8Ac.2231A>G (p.Glu744Gly)
c.78A>G
c.235A>G
n.2359A>G
c.2264A>G (p.Glu755Gly)
 gnomAD v4
12g.51751454A>TCA384879916SCN8Ac.2231A>T (p.Glu744Val)
c.78A>T
c.235A>T
n.2359A>T
c.2264A>T (p.Glu755Val)
12g.51751455G>ACA480061081SCN8Ac.2232G>A (p.Glu744=)
c.79G>A
c.236G>A
n.2360G>A
c.2265G>A (p.Glu755=)
12g.51751455G>CCA384879917SCN8Ac.2232G>C (p.Glu744Asp)
c.79G>C
c.236G>C
n.2360G>C
c.2265G>C (p.Glu755Asp)
12g.51751455G>TCA384879918SCN8Ac.2232G>T (p.Glu744Asp)
c.79G>T
c.236G>T
n.2360G>T
c.2265G>T (p.Glu755Asp)
12g.51751456A>CCA384879919SCN8Ac.2233A>C (p.Ile745Leu)
c.80A>C
c.237A>C
n.2361A>C
c.2266A>C (p.Ile756Leu)
12g.51751456A>GCA384879920SCN8Ac.2233A>G (p.Ile745Val)
c.80A>G
c.237A>G
n.2361A>G
c.2266A>G (p.Ile756Val)
12g.51751456A>TCA384879921SCN8Ac.2233A>T (p.Ile745Phe)
c.80A>T
c.237A>T
n.2361A>T
c.2266A>T (p.Ile756Phe)
12g.51751457T>ACA384879922SCN8Ac.2234T>A (p.Ile745Asn)
c.81T>A
c.238T>A
n.2362T>A
c.2267T>A (p.Ile756Asn)
12g.51751457T>CCA384879923SCN8Ac.2234T>C (p.Ile745Thr)
c.81T>C
c.238T>C
n.2362T>C
c.2267T>C (p.Ile756Thr)
 ClinVar dbSNP
12g.51751457T>GCA384879924SCN8Ac.2234T>G (p.Ile745Ser)
c.81T>G
c.238T>G
n.2362T>G
c.2267T>G (p.Ile756Ser)
12g.51751457T=CA2036196235SCN8Ac.2234T= (p.Ile745=)
c.81T=
c.238T=
n.2362T=
c.2267T= (p.Ile756=)
12g.51751458T>ACA480061088SCN8Ac.2235T>A (p.Ile745=)
c.82T>A
c.239T>A
n.2363T>A
c.2268T>A (p.Ile756=)
12g.51751458T>CCA480061089SCN8Ac.2235T>C (p.Ile745=)
c.82T>C
c.239T>C
n.2363T>C
c.2268T>C (p.Ile756=)
12g.51751458T>GCA384879925SCN8Ac.2235T>G (p.Ile745Met)
c.82T>G
c.239T>G
n.2363T>G
c.2268T>G (p.Ile756Met)
 dbSNP
12g.51751458T=CA2036196240SCN8Ac.2235T= (p.Ile745=)
c.82T=
c.239T=
n.2363T=
c.2268T= (p.Ile756=)
12g.51751459G>ACA384879927SCN8Ac.2236G>A (p.Val746Met)
c.83G>A
c.240G>A
n.2364G>A
c.2269G>A (p.Val757Met)
12g.51751459G>CCA384879928SCN8Ac.2236G>C (p.Val746Leu)
c.83G>C
c.240G>C
n.2364G>C
c.2269G>C (p.Val757Leu)
12g.51751459G>TCA384879926SCN8Ac.2236G>T (p.Val746Leu)
c.83G>T
c.240G>T
n.2364G>T
c.2269G>T (p.Val757Leu)
12g.51751460T>ACA384879929SCN8Ac.2237T>A (p.Val746Glu)
c.84T>A
c.241T>A
n.2365T>A
c.2270T>A (p.Val757Glu)
12g.51751460T>CCA384879931SCN8Ac.2237T>C (p.Val746Ala)
c.84T>C
c.241T>C
n.2365T>C
c.2270T>C (p.Val757Ala)
12g.51751460T>GCA384879930SCN8Ac.2237T>G (p.Val746Gly)
c.84T>G
c.241T>G
n.2365T>G
c.2270T>G (p.Val757Gly)
12g.51751461G>ACA480061091SCN8Ac.2238G>A (p.Val746=)
c.85G>A
c.242G>A
n.2366G>A
c.2271G>A (p.Val757=)
12g.51751461G>CCA480061092SCN8Ac.2238G>C (p.Val746=)
c.85G>C
c.242G>C
n.2366G>C
c.2271G>C (p.Val757=)
12g.51751461G>TCA480061093SCN8Ac.2238G>T (p.Val746=)
c.85G>T
c.242G>T
n.2366G>T
c.2271G>T (p.Val757=)
12g.51751462A=CA2036196244SCN8Ac.2239A= (p.Asn747=)
c.86A=
c.243A=
n.2367A=
c.2272A= (p.Asn758=)
12g.51751462A>CCA384879932SCN8Ac.2239A>C (p.Asn747His)
c.86A>C
c.243A>C
n.2367A>C
c.2272A>C (p.Asn758His)
 dbSNP gnomAD v3 gnomAD v4
12g.51751462A>GCA384879934SCN8Ac.2239A>G (p.Asn747Asp)
c.86A>G
c.243A>G
n.2367A>G
c.2272A>G (p.Asn758Asp)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.51751462A>TCA384879933SCN8Ac.2239A>T (p.Asn747Tyr)
c.86A>T
c.243A>T
n.2367A>T
c.2272A>T (p.Asn758Tyr)
12g.51751463A>CCA384879935SCN8Ac.2240A>C (p.Asn747Thr)
c.87A>C
c.244A>C
n.2368A>C
c.2273A>C (p.Asn758Thr)
12g.51751463A>GCA384879937SCN8Ac.2240A>G (p.Asn747Ser)
c.87A>G
c.244A>G
n.2368A>G
c.2273A>G (p.Asn758Ser)
12g.51751463A>TCA384879936SCN8Ac.2240A>T (p.Asn747Ile)
c.87A>T
c.244A>T
n.2368A>T
c.2273A>T (p.Asn758Ile)
12g.51751464C>ACA384879938SCN8Ac.2241C>A (p.Asn747Lys)
c.88C>A
c.245C>A
n.2369C>A
c.2274C>A (p.Asn758Lys)
12g.51751464C>GCA384879939SCN8Ac.2241C>G (p.Asn747Lys)
c.88C>G
c.245C>G
n.2369C>G
c.2274C>G (p.Asn758Lys)
12g.51751464C>TCA480061095SCN8Ac.2241C>T (p.Asn747=)
c.88C>T
c.245C>T
n.2369C>T
c.2274C>T (p.Asn758=)
12g.51751465T>ACA384879940SCN8Ac.2242T>A (p.Leu748Met)
c.89T>A
c.246T>A
n.2370T>A
c.2275T>A (p.Leu759Met)
12g.51751465T>CCA480061098SCN8Ac.2242T>C (p.Leu748=)
c.89T>C
c.246T>C
n.2370T>C
c.2275T>C (p.Leu759=)
 ClinVar dbSNP gnomAD v4
12g.51751465T>GCA384879941SCN8Ac.2242T>G (p.Leu748Val)
c.89T>G
c.246T>G
n.2370T>G
c.2275T>G (p.Leu759Val)
12g.51751466T>ACA384879942SCN8Ac.2243T>A (p.Leu748Ter)
c.90T>A
c.247T>A
n.2371T>A
c.2276T>A (p.Leu759Ter)
 dbSNP
12g.51751466T>CCA384879943SCN8Ac.2243T>C (p.Leu748Ser)
c.90T>C
c.247T>C
n.2371T>C
c.2276T>C (p.Leu759Ser)
12g.51751466T>GCA384879944SCN8Ac.2243T>G (p.Leu748Trp)
c.90T>G
c.247T>G
n.2371T>G
c.2276T>G (p.Leu759Trp)
12g.51751466T=CA2036196246SCN8Ac.2243T= (p.Leu748=)
c.90T=
c.247T=
n.2371T=
c.2276T= (p.Leu759=)
12g.51751467G>ACA480061100SCN8Ac.2244G>A (p.Leu748=)
c.91G>A
c.248G>A
n.2372G>A
c.2277G>A (p.Leu759=)
 gnomAD v4
12g.51751467G>CCA384879945SCN8Ac.2244G>C (p.Leu748Phe)
c.91G>C
c.248G>C
n.2372G>C
c.2277G>C (p.Leu759Phe)
12g.51751467G>TCA384879946SCN8Ac.2244G>T (p.Leu748Phe)
c.91G>T
c.248G>T
n.2372G>T
c.2277G>T (p.Leu759Phe)
12g.51751468A=CA2036196249SCN8Ac.2245A= (p.Ile749=)
c.92A=
c.249A=
n.2373A=
c.2278A= (p.Ile760=)
12g.51751468A>CCA384879947SCN8Ac.2245A>C (p.Ile749Leu)
c.92A>C
c.249A>C
n.2373A>C
c.2278A>C (p.Ile760Leu)
12g.51751468A>GCA384879948SCN8Ac.2245A>G (p.Ile749Val)
c.92A>G
c.249A>G
n.2373A>G
c.2278A>G (p.Ile760Val)
 ClinVar dbSNP gnomAD v2 gnomAD v4
12g.51751468A>TCA384879949SCN8Ac.2245A>T (p.Ile749Leu)
c.92A>T
c.249A>T
n.2373A>T
c.2278A>T (p.Ile760Leu)
12g.51751469T>ACA384879950SCN8Ac.2246T>A (p.Ile749Lys)
c.93T>A
c.250T>A
n.2374T>A
c.2279T>A (p.Ile760Lys)
12g.51751469T>CCA384879952SCN8Ac.2246T>C (p.Ile749Thr)
c.93T>C
c.250T>C
n.2374T>C
c.2279T>C (p.Ile760Thr)
 gnomAD v4
12g.51751469T>GCA384879951SCN8Ac.2246T>G (p.Ile749Arg)
c.93T>G
c.250T>G
n.2374T>G
c.2279T>G (p.Ile760Arg)
12g.51751470A>CCA480061101SCN8Ac.2247A>C (p.Ile749=)
c.94A>C
c.251A>C
n.2375A>C
c.2280A>C (p.Ile760=)
12g.51751470A>GCA384879953SCN8Ac.2247A>G (p.Ile749Met)
c.94A>G
c.251A>G
n.2375A>G
c.2280A>G (p.Ile760Met)
12g.51751470A>TCA480061103SCN8Ac.2247A>T (p.Ile749=)
c.94A>T
c.251A>T
n.2375A>T
c.2280A>T (p.Ile760=)
12g.51751471G>ACA384879954SCN8Ac.2248G>A (p.Val750Ile)
c.95G>A
c.252G>A
n.2376G>A
c.2281G>A (p.Val761Ile)
 ClinVar dbSNP
12g.51751471G>CCA384879955SCN8Ac.2248G>C (p.Val750Leu)
c.95G>C
c.252G>C
n.2376G>C
c.2281G>C (p.Val761Leu)
12g.51751471G=CA2036196253SCN8Ac.2248G= (p.Val750=)
c.95G=
c.252G=
n.2376G=
c.2281G= (p.Val761=)
12g.51751471G>TCA384879956SCN8Ac.2248G>T (p.Val750Phe)
c.95G>T
c.252G>T
n.2376G>T
c.2281G>T (p.Val761Phe)
12g.51751472T>ACA384879957SCN8Ac.2249T>A (p.Val750Asp)
c.96T>A
c.253T>A
n.2377T>A
c.2282T>A (p.Val761Asp)
12g.51751472T>CCA384879958SCN8Ac.2249T>C (p.Val750Ala)
c.96T>C
c.253T>C
n.2377T>C
c.2282T>C (p.Val761Ala)
12g.51751472T>GCA384879959SCN8Ac.2249T>G (p.Val750Gly)
c.96T>G
c.253T>G
n.2377T>G
c.2282T>G (p.Val761Gly)
12g.51751473T>ACA480061107SCN8Ac.2250T>A (p.Val750=)
c.97T>A
c.254T>A
n.2378T>A
c.2283T>A (p.Val761=)
12g.51751473T>CCA236311217SCN8Ac.2250T>C (p.Val750=)
c.97T>C
c.254T>C
n.2378T>C
c.2283T>C (p.Val761=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.51751473T>GCA480061106SCN8Ac.2250T>G (p.Val750=)
c.97T>G
c.254T>G
n.2378T>G
c.2283T>G (p.Val761=)
12g.51751473T=CA2036196255SCN8Ac.2250T= (p.Val750=)
c.97T=
c.254T=
n.2378T=
c.2283T= (p.Val761=)
12g.51751474A=CA2036196257SCN8Ac.2251A= (p.Met751=)
c.98A=
c.255A=
n.2379A=
c.2284A= (p.Met762=)
12g.51751474A>CCA384879960SCN8Ac.2251A>C (p.Met751Leu)
c.98A>C
c.255A>C
n.2379A>C
c.2284A>C (p.Met762Leu)
12g.51751474A>GCA384879961SCN8Ac.2251A>G (p.Met751Val)
c.98A>G
c.255A>G
n.2379A>G
c.2284A>G (p.Met762Val)
 ClinVar dbSNP
12g.51751474A>TCA384879962SCN8Ac.2251A>T (p.Met751Leu)
c.98A>T
c.255A>T
n.2379A>T
c.2284A>T (p.Met762Leu)
12g.51751475T>ACA384879965SCN8Ac.2252T>A (p.Met751Lys)
c.99T>A
c.256T>A
n.2380T>A
c.2285T>A (p.Met762Lys)
12g.51751475T>CCA384879964SCN8Ac.2252T>C (p.Met751Thr)
c.99T>C
c.256T>C
n.2380T>C
c.2285T>C (p.Met762Thr)
 ClinVar dbSNP gnomAD v3 gnomAD v4
12g.51751475T>GCA384879963SCN8Ac.2252T>G (p.Met751Arg)
c.99T>G
c.256T>G
n.2380T>G
c.2285T>G (p.Met762Arg)
12g.51751475T=CA2036196260SCN8Ac.2252T= (p.Met751=)
c.99T=
c.256T=
n.2380T=
c.2285T= (p.Met762=)
12g.51751476G>ACA384879968SCN8Ac.2253G>A (p.Met751Ile)
c.100G>A
c.257G>A
n.2381G>A
c.2286G>A (p.Met762Ile)
12g.51751476G>CCA384879966SCN8Ac.2253G>C (p.Met751Ile)
c.100G>C
c.257G>C
n.2381G>C
c.2286G>C (p.Met762Ile)
12g.51751476G>TCA384879967SCN8Ac.2253G>T (p.Met751Ile)
c.100G>T
c.257G>T
n.2381G>T
c.2286G>T (p.Met762Ile)
12g.51751477G>ACA384879969SCN8Ac.2254G>A (p.Asp752Asn)
c.101G>A
c.258G>A
n.2382G>A
c.2287G>A (p.Asp763Asn)
12g.51751477G>CCA384879970SCN8Ac.2254G>C (p.Asp752His)
c.101G>C
c.258G>C
n.2382G>C
c.2287G>C (p.Asp763His)
12g.51751477G>TCA384879971SCN8Ac.2254G>T (p.Asp752Tyr)
c.101G>T
c.258G>T
n.2382G>T
c.2287G>T (p.Asp763Tyr)
12g.51751478A>CCA384879972SCN8Ac.2255A>C (p.Asp752Ala)
c.102A>C
c.259A>C
n.2383A>C
c.2288A>C (p.Asp763Ala)
12g.51751478A>GCA384879973SCN8Ac.2255A>G (p.Asp752Gly)
c.102A>G
c.259A>G
n.2383A>G
c.2288A>G (p.Asp763Gly)
12g.51751478A>TCA384879974SCN8Ac.2255A>T (p.Asp752Val)
c.102A>T
c.259A>T
n.2383A>T
c.2288A>T (p.Asp763Val)
12g.51751479C>ACA384879975SCN8Ac.2256C>A (p.Asp752Glu)
c.103C>A
c.260C>A
n.2384C>A
c.2289C>A (p.Asp763Glu)
 dbSNP gnomAD v4
12g.51751479C=CA2036196262SCN8Ac.2256C= (p.Asp752=)
c.103C=
c.260C=
n.2384C=
c.2289C= (p.Asp763=)
12g.51751479C>GCA384879976SCN8Ac.2256C>G (p.Asp752Glu)
c.103C>G
c.260C>G
n.2384C>G
c.2289C>G (p.Asp763Glu)
12g.51751479C>TCA480061110SCN8Ac.2256C>T (p.Asp752=)
c.103C>T
c.260C>T
n.2384C>T
c.2289C>T (p.Asp763=)
12g.51751480C>ACA384879977SCN8Ac.2257C>A (p.Pro753Thr)
c.104C>A
c.261C>A
n.2385C>A
c.2290C>A (p.Pro764Thr)
12g.51751480C>GCA384879978SCN8Ac.2257C>G (p.Pro753Ala)
c.104C>G
c.261C>G
n.2385C>G
c.2290C>G (p.Pro764Ala)
 gnomAD v4
12g.51751480C>TCA384879979SCN8Ac.2257C>T (p.Pro753Ser)
c.104C>T
c.261C>T
n.2385C>T
c.2290C>T (p.Pro764Ser)
12g.51751481C>ACA384879980SCN8Ac.2258C>A (p.Pro753His)
c.105C>A
c.262C>A
n.2386C>A
c.2291C>A (p.Pro764His)
12g.51751481C>GCA384879982SCN8Ac.2258C>G (p.Pro753Arg)
c.105C>G
c.262C>G
n.2386C>G
c.2291C>G (p.Pro764Arg)
12g.51751481C>TCA384879981SCN8Ac.2258C>T (p.Pro753Leu)
c.105C>T
c.262C>T
n.2386C>T
c.2291C>T (p.Pro764Leu)
12g.51751482T>ACA480061111SCN8Ac.2259T>A (p.Pro753=)
c.106T>A
c.263T>A
n.2387T>A
c.2292T>A (p.Pro764=)
12g.51751482T>CCA480061112SCN8Ac.2259T>C (p.Pro753=)
c.106T>C
c.263T>C
n.2387T>C
c.2292T>C (p.Pro764=)
12g.51751482T>GCA480061113SCN8Ac.2259T>G (p.Pro753=)
c.106T>G
c.263T>G
n.2387T>G
c.2292T>G (p.Pro764=)
12g.51751483T>ACA384879983SCN8Ac.2260T>A (p.Phe754Ile)
c.107T>A
c.264T>A
n.2388T>A
c.2293T>A (p.Phe765Ile)
12g.51751483T>CCA384879984SCN8Ac.2260T>C (p.Phe754Leu)
c.107T>C
c.264T>C
n.2388T>C
c.2293T>C (p.Phe765Leu)
12g.51751483T>GCA384879985SCN8Ac.2260T>G (p.Phe754Val)
c.107T>G
c.264T>G
n.2388T>G
c.2293T>G (p.Phe765Val)
12g.51751484T>ACA384879986SCN8Ac.2261T>A (p.Phe754Tyr)
c.108T>A
c.265T>A
n.2389T>A
c.2294T>A (p.Phe765Tyr)
12g.51751484T>CCA384879987SCN8Ac.2261T>C (p.Phe754Ser)
c.108T>C
c.265T>C
n.2389T>C
c.2294T>C (p.Phe765Ser)
12g.51751484T>GCA384879988SCN8Ac.2261T>G (p.Phe754Cys)
c.108T>G
c.265T>G
n.2389T>G
c.2294T>G (p.Phe765Cys)
12g.51751485T>ACA384879989SCN8Ac.2262T>A (p.Phe754Leu)
c.109T>A
c.266T>A
n.2390T>A
c.2295T>A (p.Phe765Leu)
12g.51751485T>CCA480061114SCN8Ac.2262T>C (p.Phe754=)
c.109T>C
c.266T>C
n.2390T>C
c.2295T>C (p.Phe765=)
 dbSNP
12g.51751485T>GCA384879990SCN8Ac.2262T>G (p.Phe754Leu)
c.109T>G
c.266T>G
n.2390T>G
c.2295T>G (p.Phe765Leu)
12g.51751485T=CA2036196265SCN8Ac.2262T= (p.Phe754=)
c.109T=
c.266T=
n.2390T=
c.2295T= (p.Phe765=)
12g.51751486G>ACA384879991SCN8Ac.2263G>A (p.Val755Met)
c.110G>A
c.267G>A
n.2391G>A
c.2296G>A (p.Val766Met)
12g.51751486G>CCA384879992SCN8Ac.2263G>C (p.Val755Leu)
c.110G>C
c.267G>C
n.2391G>C
c.2296G>C (p.Val766Leu)
 ClinVar dbSNP
12g.51751486G>TCA384879993SCN8Ac.2263G>T (p.Val755Leu)
c.110G>T
c.267G>T
n.2391G>T
c.2296G>T (p.Val766Leu)
12g.51751487T>ACA384879995SCN8Ac.2264T>A (p.Val755Glu)
c.111T>A
c.268T>A
n.2392T>A
c.2297T>A (p.Val766Glu)
12g.51751487T>CCA384879996SCN8Ac.2264T>C (p.Val755Ala)
c.111T>C
c.268T>C
n.2392T>C
c.2297T>C (p.Val766Ala)
12g.51751487T>GCA384879994SCN8Ac.2264T>G (p.Val755Gly)
c.111T>G
c.268T>G
n.2392T>G
c.2297T>G (p.Val766Gly)
 gnomAD v4
12g.51751488G>ACA480061116SCN8Ac.2265G>A (p.Val755=)
c.112G>A
c.269G>A
n.2393G>A
c.2298G>A (p.Val766=)
12g.51751488G>CCA480061117SCN8Ac.2265G>C (p.Val755=)
c.112G>C
c.269G>C
n.2393G>C
c.2298G>C (p.Val766=)
 ClinVar dbSNP gnomAD v4
12g.51751488G=CA2036196269SCN8Ac.2265G= (p.Val755=)
c.112G=
c.269G=
n.2393G=
c.2298G= (p.Val766=)
12g.51751488G>TCA480061118SCN8Ac.2265G>T (p.Val755=)
c.112G>T
c.269G>T
n.2393G>T
c.2298G>T (p.Val766=)
12g.51751489G>ACA384879997SCN8Ac.2266G>A (p.Asp756Asn)
c.113G>A
c.270G>A
n.2394G>A
c.2299G>A (p.Asp767Asn)
 ClinVar
12g.51751489G>CCA384879998SCN8Ac.2266G>C (p.Asp756His)
c.113G>C
c.270G>C
n.2394G>C
c.2299G>C (p.Asp767His)
12g.51751489G>TCA384879999SCN8Ac.2266G>T (p.Asp756Tyr)
c.113G>T
c.270G>T
n.2394G>T
c.2299G>T (p.Asp767Tyr)
12g.51751490A>CCA384880000SCN8Ac.2267A>C (p.Asp756Ala)
c.114A>C
c.271A>C
n.2395A>C
c.2300A>C (p.Asp767Ala)
12g.51751490A>GCA384880001SCN8Ac.2267A>G (p.Asp756Gly)
c.114A>G
c.271A>G
n.2395A>G
c.2300A>G (p.Asp767Gly)
12g.51751490A>TCA384880002SCN8Ac.2267A>T (p.Asp756Val)
c.114A>T
c.271A>T
n.2395A>T
c.2300A>T (p.Asp767Val)
12g.51751491T>ACA384880003SCN8Ac.2268T>A (p.Asp756Glu)
c.115T>A
c.272T>A
n.2396T>A
c.2301T>A (p.Asp767Glu)
12g.51751491T>CCA480061122SCN8Ac.2268T>C (p.Asp756=)
c.115T>C
c.272T>C
n.2396T>C
c.2301T>C (p.Asp767=)
 gnomAD v3 gnomAD v4
12g.51751491T>GCA384880004SCN8Ac.2268T>G (p.Asp756Glu)
c.115T>G
c.272T>G
n.2396T>G
c.2301T>G (p.Asp767Glu)
12g.51751492T>ACA384880005SCN8Ac.2269T>A (p.Leu757Ile)
c.116T>A
c.273T>A
n.2397T>A
c.2302T>A (p.Leu768Ile)
12g.51751492T>CCA480061123SCN8Ac.2269T>C (p.Leu757=)
c.116T>C
c.273T>C
n.2397T>C
c.2302T>C (p.Leu768=)
12g.51751492T>GCA384880006SCN8Ac.2269T>G (p.Leu757Val)
c.116T>G
c.273T>G
n.2397T>G
c.2302T>G (p.Leu768Val)
12g.51751493T>ACA384880007SCN8Ac.2270T>A (p.Leu757Ter)
c.117T>A
c.274T>A
n.2398T>A
c.2303T>A (p.Leu768Ter)
12g.51751493T>CCA384880008SCN8Ac.2270T>C (p.Leu757Ser)
c.117T>C
c.274T>C
n.2398T>C
c.2303T>C (p.Leu768Ser)
12g.51751493T>GCA384880009SCN8Ac.2270T>G (p.Leu757Ter)
c.117T>G
c.274T>G
n.2398T>G
c.2303T>G (p.Leu768Ter)
12g.51751494A>CCA384880011SCN8Ac.2271A>C (p.Leu757Phe)
c.118A>C
c.275A>C
n.2399A>C
c.2304A>C (p.Leu768Phe)
12g.51751494A>GCA480061126SCN8Ac.2271A>G (p.Leu757=)
c.118A>G
c.275A>G
n.2399A>G
c.2304A>G (p.Leu768=)
 gnomAD v3 gnomAD v4
12g.51751494A>TCA384880010SCN8Ac.2271A>T (p.Leu757Phe)
c.118A>T
c.275A>T
n.2399A>T
c.2304A>T (p.Leu768Phe)

Number of alleles fetched