Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.68784807_68784812dupCA2574903287CPT1Ac.1163+3_1163+8dup (n.1163+3_1163+8dup)
c.1259+3_1259+8dup (n.1259+3_1259+8dup)
11g.68784809G>ACA2614735469CPT1Ac.1163+6C>T (n.1163+6C>T)
c.1259+6C>T (n.1259+6C>T)
gnomAD v4
11g.68784809G>TCA939177282CPT1Ac.1163+6C>A (n.1163+6C>A)
c.1259+6C>A (n.1259+6C>A)
dbSNP gnomAD v3 gnomAD v4
11g.68784810C>ACA6152401CPT1Ac.1163+5G>T (n.1163+5G>T)
c.1259+5G>T (n.1259+5G>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.68784810C>TCA6152400CPT1Ac.1163+5G>A (n.1163+5G>A)
c.1259+5G>A (n.1259+5G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.68784811G>ACA6152402CPT1Ac.1163+4C>T (n.1163+4C>T)
c.1259+4C>T (n.1259+4C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.68784812C>TCA6152403CPT1Ac.1163+3G>A (n.1163+3G>A)
c.1259+3G>A (n.1259+3G>A)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.68784813A>CCA381632573CPT1Ac.1163+2T>G (n.1163+2T>G)
c.1259+2T>G (n.1259+2T>G)
11g.68784813A>GCA381632577CPT1Ac.1163+2T>C (n.1163+2T>C)
c.1259+2T>C (n.1259+2T>C)
ClinVar dbSNP
11g.68784813A>TCA381632580CPT1Ac.1163+2T>A (n.1163+2T>A)
c.1259+2T>A (n.1259+2T>A)
11g.68784814C>ACA381632582CPT1Ac.1163+1G>T (n.1163+1G>T)
c.1259+1G>T (n.1259+1G>T)
11g.68784814C>GCA381632586CPT1Ac.1163+1G>C (n.1163+1G>C)
c.1259+1G>C (n.1259+1G>C)
11g.68784814C>TCA6152404CPT1Ac.1163+1G>A (n.1163+1G>A)
c.1259+1G>A (n.1259+1G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.68784815C>ACA381632590CPT1Ac.1163G>T (p.Arg388Ile)
c.1259G>T (p.Arg420Ile)
11g.68784815C>GCA381632593CPT1Ac.1163G>C (p.Arg388Thr)
c.1259G>C (p.Arg420Thr)
11g.68784815C>TCA381632595CPT1Ac.1163G>A (p.Arg388Lys)
c.1259G>A (p.Arg420Lys)
11g.68784816T>ACA381632599CPT1Ac.1162A>T (p.Arg388Ter)
c.1258A>T (p.Arg420Ter)
11g.68784816T>CCA381632601CPT1Ac.1162A>G (p.Arg388Gly)
c.1258A>G (p.Arg420Gly)
11g.68784816T>GCA475196558CPT1Ac.1162A>C (p.Arg388=)
c.1258A>C (p.Arg420=)
11g.68784817G>ACA475196560CPT1Ac.1161C>T (p.Asp387=)
c.1257C>T (p.Asp419=)
11g.68784817G>CCA381632602CPT1Ac.1161C>G (p.Asp387Glu)
c.1257C>G (p.Asp419Glu)
11g.68784817G>TCA381632607CPT1Ac.1161C>A (p.Asp387Glu)
c.1257C>A (p.Asp419Glu)
11g.68784818T>ACA381632615CPT1Ac.1160A>T (p.Asp387Val)
c.1256A>T (p.Asp419Val)
ClinVar
11g.68784818T>CCA381632610CPT1Ac.1160A>G (p.Asp387Gly)
c.1256A>G (p.Asp419Gly)
11g.68784818T>GCA381632613CPT1Ac.1160A>C (p.Asp387Ala)
c.1256A>C (p.Asp419Ala)
11g.68784819C>ACA381632618CPT1Ac.1159G>T (p.Asp387Tyr)
c.1255G>T (p.Asp419Tyr)
11g.68784819C>GCA381632619CPT1Ac.1159G>C (p.Asp387His)
c.1255G>C (p.Asp419His)
11g.68784819C>TCA6152405CPT1Ac.1159G>A (p.Asp387Asn)
c.1255G>A (p.Asp419Asn)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.68784820T>ACA475196571CPT1Ac.1158A>T (p.Gly386=)
c.1254A>T (p.Gly418=)
11g.68784820T>CCA475196568CPT1Ac.1158A>G (p.Gly386=)
c.1254A>G (p.Gly418=)
11g.68784820T>GCA475196574CPT1Ac.1158A>C (p.Gly386=)
c.1254A>C (p.Gly418=)
11g.68784821C>ACA381632624CPT1Ac.1157G>T (p.Gly386Val)
c.1253G>T (p.Gly418Val)
11g.68784821C>GCA6152406CPT1Ac.1157G>C (p.Gly386Ala)
c.1253G>C (p.Gly418Ala)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.68784821C>TCA381632628CPT1Ac.1157G>A (p.Gly386Glu)
c.1253G>A (p.Gly418Glu)
COSMIC COSMIC
11g.68784822C>ACA381632631CPT1Ac.1156G>T (p.Gly386Ter)
c.1252G>T (p.Gly418Ter)
11g.68784822C>GCA381632634CPT1Ac.1156G>C (p.Gly386Arg)
c.1252G>C (p.Gly418Arg)
11g.68784822C>TCA381632636CPT1Ac.1156G>A (p.Gly386Arg)
c.1252G>A (p.Gly418Arg)
11g.68784823T>ACA475196579CPT1Ac.1155A>T (p.Ala385=)
c.1251A>T (p.Ala417=)
11g.68784823T>CCA475196582CPT1Ac.1155A>G (p.Ala385=)
c.1251A>G (p.Ala417=)
dbSNP gnomAD v2 gnomAD v4
11g.68784823T>GCA475196586CPT1Ac.1155A>C (p.Ala385=)
c.1251A>C (p.Ala417=)
11g.68784824G>ACA381632638CPT1Ac.1154C>T (p.Ala385Val)
c.1250C>T (p.Ala417Val)
11g.68784824G>CCA381632639CPT1Ac.1154C>G (p.Ala385Gly)
c.1250C>G (p.Ala417Gly)
11g.68784824G>TCA381632642CPT1Ac.1154C>A (p.Ala385Glu)
c.1250C>A (p.Ala417Glu)
gnomAD v4
11g.68784825C>ACA381632646CPT1Ac.1153G>T (p.Ala385Ser)
c.1249G>T (p.Ala417Ser)
11g.68784825C>GCA381632645CPT1Ac.1153G>C (p.Ala385Pro)
c.1249G>C (p.Ala417Pro)
gnomAD v4
11g.68784825C>TCA6152407CPT1Ac.1153G>A (p.Ala385Thr)
c.1249G>A (p.Ala417Thr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.68784826G>ACA6152408CPT1Ac.1152C>T (p.Thr384=)
c.1248C>T (p.Thr416=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.68784826G>CCA475196600CPT1Ac.1152C>G (p.Thr384=)
c.1248C>G (p.Thr416=)
11g.68784826G>TCA475196601CPT1Ac.1152C>A (p.Thr384=)
c.1248C>A (p.Thr416=)
gnomAD v4
11g.68784827G>ACA381632649CPT1Ac.1151C>T (p.Thr384Ile)
c.1247C>T (p.Thr416Ile)
gnomAD v4

Number of alleles fetched