Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.68761525A>G | CA2724265042 | CPT1A | c.2028+10T>C (n.2028+10T>C) c.2124+10T>C (n.2124+10T>C) | dbSNP |
11 | g.68761526G>A | CA600239619 | CPT1A | c.2028+9C>T (n.2028+9C>T) c.2124+9C>T (n.2124+9C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.68761526G>T | CA2580084746 | CPT1A | c.2028+9C>A (n.2028+9C>A) c.2124+9C>A (n.2124+9C>A) | ClinVar |
11 | g.68761528G>C | CA6152125 | CPT1A | c.2028+7C>G (n.2028+7C>G) c.2124+7C>G (n.2124+7C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68761528G>T | CA2614731028 | CPT1A | c.2028+7C>A (n.2028+7C>A) c.2124+7C>A (n.2124+7C>A) | gnomAD v4 |
11 | g.68761529A>C | CA6152126 | CPT1A | c.2028+6T>G (n.2028+6T>G) c.2124+6T>G (n.2124+6T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.68761529A>G | CA223366385 | CPT1A | c.2028+6T>C (n.2028+6T>C) c.2124+6T>C (n.2124+6T>C) | dbSNP |
11 | g.68761529A>T | CA600239620 | CPT1A | c.2028+6T>A (n.2028+6T>A) c.2124+6T>A (n.2124+6T>A) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.68761533_68761536del | CA344980 | CPT1A | c.2028+3_2028+6del c.2124+3_2124+6del | ClinVar dbSNP |
11 | g.68761531T>C | CA2614731040 | CPT1A | c.2028+4A>G (n.2028+4A>G) c.2124+4A>G (n.2124+4A>G) | gnomAD v4 |
11 | g.68761532T>G | CA6152127 | CPT1A | c.2028+3A>C (n.2028+3A>C) c.2124+3A>C (n.2124+3A>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68761533A>C | CA381626353 | CPT1A | c.2028+2T>G (n.2028+2T>G) c.2124+2T>G (n.2124+2T>G) | ClinVar dbSNP gnomAD v4 |
11 | g.68761533A>G | CA381626354 | CPT1A | c.2028+2T>C (n.2028+2T>C) c.2124+2T>C (n.2124+2T>C) | |
11 | g.68761533A>T | CA381626355 | CPT1A | c.2028+2T>A (n.2028+2T>A) c.2124+2T>A (n.2124+2T>A) | gnomAD v4 |
11 | g.68761534C>A | CA381626358 | CPT1A | c.2028+1G>T (n.2028+1G>T) c.2124+1G>T (n.2124+1G>T) | |
11 | g.68761534C>G | CA381626356 | CPT1A | c.2028+1G>C (n.2028+1G>C) c.2124+1G>C (n.2124+1G>C) | |
11 | g.68761534C>T | CA381626357 | CPT1A | c.2028+1G>A (n.2028+1G>A) c.2124+1G>A (n.2124+1G>A) | ClinVar dbSNP gnomAD v4 |
11 | g.68761535T>A | CA381626359 | CPT1A | c.2028A>T (p.Glu676Asp) c.2124A>T (p.Glu708Asp) | |
11 | g.68761535T>C | CA475182464 | CPT1A | c.2028A>G (p.Glu676=) c.2124A>G (p.Glu708=) | |
11 | g.68761535T>G | CA381626360 | CPT1A | c.2028A>C (p.Glu676Asp) c.2124A>C (p.Glu708Asp) | |
11 | g.68761536T>A | CA381626361 | CPT1A | c.2027A>T (p.Glu676Val) c.2123A>T (p.Glu708Val) | |
11 | g.68761536T>C | CA381626362 | CPT1A | c.2027A>G (p.Glu676Gly) c.2123A>G (p.Glu708Gly) | |
11 | g.68761536T>G | CA381626363 | CPT1A | c.2027A>C (p.Glu676Ala) c.2123A>C (p.Glu708Ala) | |
11 | g.68761537C>A | CA381626364 | CPT1A | c.2026G>T (p.Glu676Ter) c.2122G>T (p.Glu708Ter) | |
11 | g.68761537C>G | CA381626366 | CPT1A | c.2026G>C (p.Glu676Gln) c.2122G>C (p.Glu708Gln) | gnomAD v4 |
11 | g.68761537C>T | CA381626365 | CPT1A | c.2026G>A (p.Glu676Lys) c.2122G>A (p.Glu708Lys) | |
11 | g.68761538C>A | CA381626367 | CPT1A | c.2025G>T (p.Lys675Asn) c.2121G>T (p.Lys707Asn) | |
11 | g.68761538C>G | CA381626368 | CPT1A | c.2025G>C (p.Lys675Asn) c.2121G>C (p.Lys707Asn) | |
11 | g.68761538C>T | CA475182475 | CPT1A | c.2025G>A (p.Lys675=) c.2121G>A (p.Lys707=) | ClinVar dbSNP |
11 | g.68761539T>A | CA381626370 | CPT1A | c.2024A>T (p.Lys675Met) c.2120A>T (p.Lys707Met) | |
11 | g.68761539T>C | CA381626372 | CPT1A | c.2024A>G (p.Lys675Arg) c.2120A>G (p.Lys707Arg) | |
11 | g.68761539T>G | CA381626374 | CPT1A | c.2024A>C (p.Lys675Thr) c.2120A>C (p.Lys707Thr) | |
11 | g.68761540T>A | CA381626378 | CPT1A | c.2023A>T (p.Lys675Ter) c.2119A>T (p.Lys707Ter) | |
11 | g.68761540T>C | CA381626379 | CPT1A | c.2023A>G (p.Lys675Glu) c.2119A>G (p.Lys707Glu) | gnomAD v4 |
11 | g.68761540T>G | CA381626381 | CPT1A | c.2023A>C (p.Lys675Gln) c.2119A>C (p.Lys707Gln) | |
11 | g.68761541A>C | CA475182482 | CPT1A | c.2022T>G (p.Leu674=) c.2118T>G (p.Leu706=) | |
11 | g.68761541A>G | CA475182486 | CPT1A | c.2022T>C (p.Leu674=) c.2118T>C (p.Leu706=) | gnomAD v4 |
11 | g.68761541A>T | CA475182484 | CPT1A | c.2022T>A (p.Leu674=) c.2118T>A (p.Leu706=) | |
11 | g.68761545_68761549del | CA679631617 | CPT1A | c.2018_2022del (p.Phe673Ter) c.2114_2118del (p.Phe705Ter) | ClinVar dbSNP |
11 | g.68761542A>C | CA381626382 | CPT1A | c.2021T>G (p.Leu674Arg) c.2117T>G (p.Leu706Arg) | |
11 | g.68761542A>G | CA381626385 | CPT1A | c.2021T>C (p.Leu674Pro) c.2117T>C (p.Leu706Pro) | gnomAD v4 |
11 | g.68761542A>T | CA381626387 | CPT1A | c.2021T>A (p.Leu674His) c.2117T>A (p.Leu706His) | |
11 | g.68761543G>A | CA381626390 | CPT1A | c.2020C>T (p.Leu674Phe) c.2116C>T (p.Leu706Phe) | gnomAD v4 COSMIC COSMIC |
11 | g.68761543G>C | CA381626393 | CPT1A | c.2020C>G (p.Leu674Val) c.2116C>G (p.Leu706Val) | |
11 | g.68761543G>T | CA223366387 | CPT1A | c.2020C>A (p.Leu674Ile) c.2116C>A (p.Leu706Ile) | dbSNP COSMIC COSMIC |
11 | g.68761544G>A | CA475182501 | CPT1A | c.2019C>T (p.Phe673=) c.2115C>T (p.Phe705=) | gnomAD v4 COSMIC COSMIC |
11 | g.68761544G>C | CA381626396 | CPT1A | c.2019C>G (p.Phe673Leu) c.2115C>G (p.Phe705Leu) | |
11 | g.68761544G>T | CA381626398 | CPT1A | c.2019C>A (p.Phe673Leu) c.2115C>A (p.Phe705Leu) | |
11 | g.68761545A>C | CA381626401 | CPT1A | c.2018T>G (p.Phe673Cys) c.2114T>G (p.Phe705Cys) | |
11 | g.68761545A>G | CA381626405 | CPT1A | c.2018T>C (p.Phe673Ser) c.2114T>C (p.Phe705Ser) |