Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.68784820T>A | CA475196571 | CPT1A | c.1158A>T (p.Gly386=) c.1254A>T (p.Gly418=) | |
11 | g.68784820T>C | CA475196568 | CPT1A | c.1158A>G (p.Gly386=) c.1254A>G (p.Gly418=) | |
11 | g.68784820T>G | CA475196574 | CPT1A | c.1158A>C (p.Gly386=) c.1254A>C (p.Gly418=) | |
11 | g.68784821C>A | CA381632624 | CPT1A | c.1157G>T (p.Gly386Val) c.1253G>T (p.Gly418Val) | |
11 | g.68784821C>G | CA6152406 | CPT1A | c.1157G>C (p.Gly386Ala) c.1253G>C (p.Gly418Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68784821C>T | CA381632628 | CPT1A | c.1157G>A (p.Gly386Glu) c.1253G>A (p.Gly418Glu) | COSMIC COSMIC |
11 | g.68784822C>A | CA381632631 | CPT1A | c.1156G>T (p.Gly386Ter) c.1252G>T (p.Gly418Ter) | |
11 | g.68784822C>G | CA381632634 | CPT1A | c.1156G>C (p.Gly386Arg) c.1252G>C (p.Gly418Arg) | |
11 | g.68784822C>T | CA381632636 | CPT1A | c.1156G>A (p.Gly386Arg) c.1252G>A (p.Gly418Arg) | |
11 | g.68784823T>A | CA475196579 | CPT1A | c.1155A>T (p.Ala385=) c.1251A>T (p.Ala417=) | |
11 | g.68784823T>C | CA475196582 | CPT1A | c.1155A>G (p.Ala385=) c.1251A>G (p.Ala417=) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.68784823T>G | CA475196586 | CPT1A | c.1155A>C (p.Ala385=) c.1251A>C (p.Ala417=) | |
11 | g.68784824G>A | CA381632638 | CPT1A | c.1154C>T (p.Ala385Val) c.1250C>T (p.Ala417Val) | |
11 | g.68784824G>C | CA381632639 | CPT1A | c.1154C>G (p.Ala385Gly) c.1250C>G (p.Ala417Gly) | |
11 | g.68784824G>T | CA381632642 | CPT1A | c.1154C>A (p.Ala385Glu) c.1250C>A (p.Ala417Glu) | gnomAD v4 |
11 | g.68784825C>A | CA381632646 | CPT1A | c.1153G>T (p.Ala385Ser) c.1249G>T (p.Ala417Ser) | |
11 | g.68784825C>G | CA381632645 | CPT1A | c.1153G>C (p.Ala385Pro) c.1249G>C (p.Ala417Pro) | gnomAD v4 |
11 | g.68784825C>T | CA6152407 | CPT1A | c.1153G>A (p.Ala385Thr) c.1249G>A (p.Ala417Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.68784826G>A | CA6152408 | CPT1A | c.1152C>T (p.Thr384=) c.1248C>T (p.Thr416=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68784826G>C | CA475196600 | CPT1A | c.1152C>G (p.Thr384=) c.1248C>G (p.Thr416=) | |
11 | g.68784826G>T | CA475196601 | CPT1A | c.1152C>A (p.Thr384=) c.1248C>A (p.Thr416=) | gnomAD v4 |
11 | g.68784827G>A | CA381632649 | CPT1A | c.1151C>T (p.Thr384Ile) c.1247C>T (p.Thr416Ile) | gnomAD v4 |
11 | g.68784827G>C | CA381632652 | CPT1A | c.1151C>G (p.Thr384Ser) c.1247C>G (p.Thr416Ser) | |
11 | g.68784827G>T | CA381632650 | CPT1A | c.1151C>A (p.Thr384Asn) c.1247C>A (p.Thr416Asn) | |
11 | g.68784828T>A | CA381632654 | CPT1A | c.1150A>T (p.Thr384Ser) c.1246A>T (p.Thr416Ser) | |
11 | g.68784828T>C | CA381632657 | CPT1A | c.1150A>G (p.Thr384Ala) c.1246A>G (p.Thr416Ala) | |
11 | g.68784828T>G | CA381632659 | CPT1A | c.1150A>C (p.Thr384Pro) c.1246A>C (p.Thr416Pro) | |
11 | g.68784829G>A | CA475196609 | CPT1A | c.1149C>T (p.Leu383=) c.1245C>T (p.Leu415=) | dbSNP |
11 | g.68784829G>C | CA475196612 | CPT1A | c.1149C>G (p.Leu383=) c.1245C>G (p.Leu415=) | |
11 | g.68784829G>T | CA475196616 | CPT1A | c.1149C>A (p.Leu383=) c.1245C>A (p.Leu415=) | |
11 | g.68784830A>C | CA381632661 | CPT1A | c.1148T>G (p.Leu383Arg) c.1244T>G (p.Leu415Arg) | |
11 | g.68784830A>G | CA381632663 | CPT1A | c.1148T>C (p.Leu383Pro) c.1244T>C (p.Leu415Pro) | |
11 | g.68784830A>T | CA381632665 | CPT1A | c.1148T>A (p.Leu383His) c.1244T>A (p.Leu415His) | |
11 | g.68784831G>A | CA223375781 | CPT1A | c.1147C>T (p.Leu383Phe) c.1243C>T (p.Leu415Phe) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.68784831G>C | CA381632668 | CPT1A | c.1147C>G (p.Leu383Val) c.1243C>G (p.Leu415Val) | |
11 | g.68784831G>T | CA381632670 | CPT1A | c.1147C>A (p.Leu383Ile) c.1243C>A (p.Leu415Ile) | gnomAD v4 |
11 | g.68784832G>A | CA475196628 | CPT1A | c.1146C>T (p.Ala382=) c.1242C>T (p.Ala414=) | dbSNP gnomAD v2 |
11 | g.68784832G>C | CA475196636 | CPT1A | c.1146C>G (p.Ala382=) c.1242C>G (p.Ala414=) | |
11 | g.68784832G>T | CA475196637 | CPT1A | c.1146C>A (p.Ala382=) c.1242C>A (p.Ala414=) | |
11 | g.68784833G>A | CA6152409 | CPT1A | c.1145C>T (p.Ala382Val) c.1241C>T (p.Ala414Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.68784833G>C | CA381632673 | CPT1A | c.1145C>G (p.Ala382Gly) c.1241C>G (p.Ala414Gly) | |
11 | g.68784833G>T | CA381632675 | CPT1A | c.1145C>A (p.Ala382Asp) c.1241C>A (p.Ala414Asp) | gnomAD v4 |
11 | g.68784834C>A | CA381632681 | CPT1A | c.1144G>T (p.Ala382Ser) c.1240G>T (p.Ala414Ser) | |
11 | g.68784834C>G | CA381632679 | CPT1A | c.1144G>C (p.Ala382Pro) c.1240G>C (p.Ala414Pro) | |
11 | g.68784834C>T | CA381632677 | CPT1A | c.1144G>A (p.Ala382Thr) c.1240G>A (p.Ala414Thr) | dbSNP gnomAD v4 |
11 | g.68784835T>A | CA475196657 | CPT1A | c.1143A>T (p.Ala381=) c.1239A>T (p.Ala413=) | |
11 | g.68784835T>C | CA475196660 | CPT1A | c.1143A>G (p.Ala381=) c.1239A>G (p.Ala413=) | gnomAD v4 |
11 | g.68784835T>G | CA475196662 | CPT1A | c.1143A>C (p.Ala381=) c.1239A>C (p.Ala413=) | |
11 | g.68784836G>A | CA381632683 | CPT1A | c.1142C>T (p.Ala381Val) c.1238C>T (p.Ala413Val) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.68784836G>C | CA381632685 | CPT1A | c.1142C>G (p.Ala381Gly) c.1238C>G (p.Ala413Gly) |