Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.68759548G>TCA939164706CPT1Ac.2235+21C>A (p.=)
c.2331+21C>A (p.=)
11g.68759549G>ACA599985061CPT1Ac.2235+20C>T (p.=)
c.2331+20C>T (p.=)
gnomAD
11g.68759555C>ACA679630354CPT1Ac.2235+14G>T (p.=)
c.2331+14G>T (p.=)
11g.68759555C>TCA6152038CPT1Ac.2235+14G>A (p.=)
c.2331+14G>A (p.=)
dbSNP ExAC gnomAD
11g.68759564C>TCA6152039CPT1Ac.2235+5G>A (p.=)
c.2331+5G>A (p.=)
dbSNP ExAC gnomAD
11g.68759565A>GCA6152040CPT1Ac.2235+4T>C (p.=)
c.2331+4T>C (p.=)
ClinVar dbSNP ExAC gnomAD
11g.68759567A>CCA381625330CPT1Ac.2235+2T>G (p.=)
c.2331+2T>G (p.=)
11g.68759567A>GCA381625331CPT1Ac.2235+2T>C (p.=)
c.2331+2T>C (p.=)
11g.68759567A>TCA381625334CPT1Ac.2235+2T>A (p.=)
c.2331+2T>A (p.=)
11g.68759568C>ACA381625336CPT1Ac.2235+1G>T (p.=)
c.2331+1G>T (p.=)
11g.68759568C>GCA381625338CPT1Ac.2235+1G>C (p.=)
c.2331+1G>C (p.=)
11g.68759568C>TCA381625340CPT1Ac.2235+1G>A (p.=)
c.2331+1G>A (p.=)
11g.68759569C>ACA475181611CPT1Ac.2235G>T (p.Thr745=)
c.2331G>T (p.Thr777=)
11g.68759569C>GCA475181612CPT1Ac.2235G>C (p.Thr745=)
c.2331G>C (p.Thr777=)
11g.68759569C>TCA6152041CPT1Ac.2235G>A (p.Thr745=)
c.2331G>A (p.Thr777=)
dbSNP ExAC gnomAD
11g.68759570G>ACA6152042CPT1Ac.2234C>T (p.Thr745Met)
c.2330C>T (p.Thr777Met)
dbSNP ExAC gnomAD COSMIC COSMIC
11g.68759570G>CCA381625350CPT1Ac.2234C>G (p.Thr745Arg)
c.2330C>G (p.Thr777Arg)
11g.68759570G>TCA381625345CPT1Ac.2234C>A (p.Thr745Lys)
c.2330C>A (p.Thr777Lys)
11g.68759571T>ACA381625357CPT1Ac.2233A>T (p.Thr745Ser)
c.2329A>T (p.Thr777Ser)
11g.68759571T>CCA381625353CPT1Ac.2233A>G (p.Thr745Ala)
c.2329A>G (p.Thr777Ala)
11g.68759571T>GCA381625355CPT1Ac.2233A>C (p.Thr745Pro)
c.2329A>C (p.Thr777Pro)
11g.68759572C>ACA381625359CPT1Ac.2232G>T (p.Glu744Asp)
c.2328G>T (p.Glu776Asp)
11g.68759572C>GCA381625361CPT1Ac.2232G>C (p.Glu744Asp)
c.2328G>C (p.Glu776Asp)
11g.68759572C>TCA475181613CPT1Ac.2232G>A (p.Glu744=)
c.2328G>A (p.Glu776=)
11g.68759573T>ACA381625364CPT1Ac.2231A>T (p.Glu744Val)
c.2327A>T (p.Glu776Val)
11g.68759573T>CCA381625367CPT1Ac.2231A>G (p.Glu744Gly)
c.2327A>G (p.Glu776Gly)
11g.68759573T>GCA381625369CPT1Ac.2231A>C (p.Glu744Ala)
c.2327A>C (p.Glu776Ala)
11g.68759574C>ACA381625372CPT1Ac.2230G>T (p.Glu744Ter)
c.2326G>T (p.Glu776Ter)
11g.68759574C>GCA381625374CPT1Ac.2230G>C (p.Glu744Gln)
c.2326G>C (p.Glu776Gln)
11g.68759574C>TCA381625376CPT1Ac.2230G>A (p.Glu744Lys)
c.2326G>A (p.Glu776Lys)
COSMIC
11g.68759575A>CCA475181614CPT1Ac.2229T>G (p.Pro743=)
c.2325T>G (p.Pro775=)
11g.68759575A>GCA475181615CPT1Ac.2229T>C (p.Pro743=)
c.2325T>C (p.Pro775=)
gnomAD
11g.68759575A>TCA475181616CPT1Ac.2229T>A (p.Pro743=)
c.2325T>A (p.Pro775=)
11g.68759576G>ACA381625379CPT1Ac.2228C>T (p.Pro743Leu)
c.2324C>T (p.Pro775Leu)
11g.68759576G>CCA381625381CPT1Ac.2228C>G (p.Pro743Arg)
c.2324C>G (p.Pro775Arg)
11g.68759576G>TCA381625383CPT1Ac.2228C>A (p.Pro743His)
c.2324C>A (p.Pro775His)
11g.68759576_68759607delCA645575722CPT1Ac.2196_2227del (p.Asn733Ter)
c.2292_2323del (p.Asn765Ter)
COSMIC
11g.68759577G>ACA381625390CPT1Ac.2227C>T (p.Pro743Ser)
c.2323C>T (p.Pro775Ser)
11g.68759577G>CCA381625386CPT1Ac.2227C>G (p.Pro743Ala)
c.2323C>G (p.Pro775Ala)
11g.68759577G>TCA6152043CPT1Ac.2227C>A (p.Pro743Thr)
c.2323C>A (p.Pro775Thr)
dbSNP ExAC gnomAD
11g.68759578G>ACA475181617CPT1Ac.2226C>T (p.Cys742=)
c.2322C>T (p.Cys774=)
11g.68759578G>CCA381625391CPT1Ac.2226C>G (p.Cys742Trp)
c.2322C>G (p.Cys774Trp)
11g.68759578G>TCA223365650CPT1Ac.2226C>A (p.Cys742Ter)
c.2322C>A (p.Cys774Ter)
dbSNP gnomAD
11g.68759579C>ACA381625395CPT1Ac.2225G>T (p.Cys742Phe)
c.2321G>T (p.Cys774Phe)
11g.68759579C>GCA381625398CPT1Ac.2225G>C (p.Cys742Ser)
c.2321G>C (p.Cys774Ser)
11g.68759579C>TCA381625400CPT1Ac.2225G>A (p.Cys742Tyr)
c.2321G>A (p.Cys774Tyr)
11g.68759580A>CCA381625403CPT1Ac.2224T>G (p.Cys742Gly)
c.2320T>G (p.Cys774Gly)
11g.68759580A>GCA381625405CPT1Ac.2224T>C (p.Cys742Arg)
c.2320T>C (p.Cys774Arg)
gnomAD
11g.68759580A>TCA381625406CPT1Ac.2224T>A (p.Cys742Ser)
c.2320T>A (p.Cys774Ser)
11g.68759581A>CCA475181618CPT1Ac.2223T>G (p.Ser741=)
c.2319T>G (p.Ser773=)

Number of alleles fetched