Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.68804008_68804009del | CA10603989 | CPT1A | c.548_549del (p.Val183GlufsTer?) c.644_645del (p.Val215GlufsTer?) | ClinVar dbSNP |
11 | g.68804008C>A | CA381635959 | CPT1A | c.547G>T (p.Val183Leu) c.643G>T (p.Val215Leu) | |
11 | g.68804008C>G | CA381635960 | CPT1A | c.547G>C (p.Val183Leu) c.643G>C (p.Val215Leu) | |
11 | g.68804008C>T | CA381635961 | CPT1A | c.547G>A (p.Val183Met) c.643G>A (p.Val215Met) | gnomAD v4 |
11 | g.68804009A>C | CA475205354 | CPT1A | c.546T>G (p.Thr182=) c.642T>G (p.Thr214=) | |
11 | g.68804009A>G | CA475205355 | CPT1A | c.546T>C (p.Thr182=) c.642T>C (p.Thr214=) | gnomAD v4 |
11 | g.68804009A>T | CA475205356 | CPT1A | c.546T>A (p.Thr182=) c.642T>A (p.Thr214=) | |
11 | g.68804010G>A | CA381635962 | CPT1A | c.545C>T (p.Thr182Ile) c.641C>T (p.Thr214Ile) | |
11 | g.68804010G>C | CA381635964 | CPT1A | c.545C>G (p.Thr182Ser) c.641C>G (p.Thr214Ser) | |
11 | g.68804010G>T | CA381635963 | CPT1A | c.545C>A (p.Thr182Asn) c.641C>A (p.Thr214Asn) | |
11 | g.68804012_68804013del | CA2580615753 | CPT1A | c.544_545del (p.Thr182CysfsTer?) c.640_641del (p.Thr214CysfsTer?) | ClinVar dbSNP |
11 | g.68804011T>A | CA381635965 | CPT1A | c.544A>T (p.Thr182Ser) c.640A>T (p.Thr214Ser) | |
11 | g.68804011T>C | CA381635967 | CPT1A | c.544A>G (p.Thr182Ala) c.640A>G (p.Thr214Ala) | |
11 | g.68804011T>G | CA381635966 | CPT1A | c.544A>C (p.Thr182Pro) c.640A>C (p.Thr214Pro) | |
11 | g.68804012G>A | CA475205357 | CPT1A | c.543C>T (p.Asp181=) c.639C>T (p.Asp213=) | |
11 | g.68804012G>C | CA381635968 | CPT1A | c.543C>G (p.Asp181Glu) c.639C>G (p.Asp213Glu) | |
11 | g.68804012G>T | CA381635969 | CPT1A | c.543C>A (p.Asp181Glu) c.639C>A (p.Asp213Glu) | |
11 | g.68804013T>A | CA381635970 | CPT1A | c.542A>T (p.Asp181Val) c.638A>T (p.Asp213Val) | |
11 | g.68804013T>C | CA381635971 | CPT1A | c.542A>G (p.Asp181Gly) c.638A>G (p.Asp213Gly) | |
11 | g.68804013T>G | CA381635972 | CPT1A | c.542A>C (p.Asp181Ala) c.638A>C (p.Asp213Ala) | |
11 | g.68804014C>A | CA381635973 | CPT1A | c.541G>T (p.Asp181Tyr) c.637G>T (p.Asp213Tyr) | |
11 | g.68804014C>G | CA381635974 | CPT1A | c.541G>C (p.Asp181His) c.637G>C (p.Asp213His) | dbSNP |
11 | g.68804014C>T | CA381635975 | CPT1A | c.541G>A (p.Asp181Asn) c.637G>A (p.Asp213Asn) | gnomAD v4 |
11 | g.68804015T>A | CA381635976 | CPT1A | c.540A>T (p.Lys180Asn) c.636A>T (p.Lys212Asn) | |
11 | g.68804015T>C | CA475205358 | CPT1A | c.540A>G (p.Lys180=) c.636A>G (p.Lys212=) | |
11 | g.68804015T>G | CA381635977 | CPT1A | c.540A>C (p.Lys180Asn) c.636A>C (p.Lys212Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68804016_68804017del | CA599991978 | CPT1A | c.539_540del (p.Lys180ArgfsTer?) c.635_636del (p.Lys212ArgfsTer?) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.68804016T>A | CA381635980 | CPT1A | c.539A>T (p.Lys180Ile) c.635A>T (p.Lys212Ile) | |
11 | g.68804016T>C | CA381635979 | CPT1A | c.539A>G (p.Lys180Arg) c.635A>G (p.Lys212Arg) | |
11 | g.68804016T>G | CA381635978 | CPT1A | c.539A>C (p.Lys180Thr) c.635A>C (p.Lys212Thr) | |
11 | g.68804017T>A | CA381635981 | CPT1A | c.538A>T (p.Lys180Ter) c.634A>T (p.Lys212Ter) | |
11 | g.68804017T>C | CA381635982 | CPT1A | c.538A>G (p.Lys180Glu) c.634A>G (p.Lys212Glu) | |
11 | g.68804017T>G | CA381635983 | CPT1A | c.538A>C (p.Lys180Gln) c.634A>C (p.Lys212Gln) | |
11 | g.68804018G>A | CA475205359 | CPT1A | c.537C>T (p.Val179=) c.633C>T (p.Val211=) | |
11 | g.68804018G>C | CA475205360 | CPT1A | c.537C>G (p.Val179=) c.633C>G (p.Val211=) | COSMIC COSMIC |
11 | g.68804018G>T | CA475205361 | CPT1A | c.537C>A (p.Val179=) c.633C>A (p.Val211=) | |
11 | g.68804019A>C | CA381635984 | CPT1A | c.536T>G (p.Val179Gly) c.632T>G (p.Val211Gly) | |
11 | g.68804019A>G | CA381635985 | CPT1A | c.536T>C (p.Val179Ala) c.632T>C (p.Val211Ala) | gnomAD v4 |
11 | g.68804019A>T | CA381635986 | CPT1A | c.536T>A (p.Val179Asp) c.632T>A (p.Val211Asp) | |
11 | g.68804020C>A | CA381635987 | CPT1A | c.535G>T (p.Val179Phe) c.631G>T (p.Val211Phe) | |
11 | g.68804020C>G | CA381635988 | CPT1A | c.535G>C (p.Val179Leu) c.631G>C (p.Val211Leu) | |
11 | g.68804020C>T | CA6152632 | CPT1A | c.535G>A (p.Val179Ile) c.631G>A (p.Val211Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68804021A>C | CA475205362 | CPT1A | c.534T>G (p.Ala178=) c.630T>G (p.Ala210=) | |
11 | g.68804021A>G | CA475205363 | CPT1A | c.534T>C (p.Ala178=) c.630T>C (p.Ala210=) | ClinVar dbSNP gnomAD v4 |
11 | g.68804021A>T | CA475205364 | CPT1A | c.534T>A (p.Ala178=) c.630T>A (p.Ala210=) | |
11 | g.68804022G>A | CA381635989 | CPT1A | c.533C>T (p.Ala178Val) c.629C>T (p.Ala210Val) | gnomAD v4 |
11 | g.68804022G>C | CA381635990 | CPT1A | c.533C>G (p.Ala178Gly) c.629C>G (p.Ala210Gly) | |
11 | g.68804022G>T | CA381635991 | CPT1A | c.533C>A (p.Ala178Asp) c.629C>A (p.Ala210Asp) | |
11 | g.68804023C>A | CA381635993 | CPT1A | c.532G>T (p.Ala178Ser) c.628G>T (p.Ala210Ser) | |
11 | g.68804023C>G | CA381635994 | CPT1A | c.532G>C (p.Ala178Pro) c.628G>C (p.Ala210Pro) |