Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.68761500C>T | CA2574903104 | CPT1A | c.2028+35G>A (n.2028+35G>A) c.2124+35G>A (n.2124+35G>A) | |
11 | g.68761500_68761506del | CA2614730975 | CPT1A | c.2028+29_2028+35del (n.2028+29_2028+35del) c.2124+29_2124+35del (n.2124+29_2124+35del) | gnomAD v4 |
11 | g.68761502A>G | CA2574903105 | CPT1A | c.2028+33T>C (n.2028+33T>C) c.2124+33T>C (n.2124+33T>C) | |
11 | g.68761504A>G | CA679631573 | CPT1A | c.2028+31T>C (n.2028+31T>C) c.2124+31T>C (n.2124+31T>C) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.68761505C>T | CA600239616 | CPT1A | c.2028+30G>A (n.2028+30G>A) c.2124+30G>A (n.2124+30G>A) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.68761507del | CA6152120 | CPT1A | c.2028+29del (n.2028+29del) c.2124+29del (n.2124+29del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.68761507A>C | CA2614730979 | CPT1A | c.2028+28T>G (n.2028+28T>G) c.2124+28T>G (n.2124+28T>G) | gnomAD v4 |
11 | g.68761507A>G | CA2614730982 | CPT1A | c.2028+28T>C (n.2028+28T>C) c.2124+28T>C (n.2124+28T>C) | gnomAD v4 |
11 | g.68761508C>T | CA600239617 | CPT1A | c.2028+27G>A (n.2028+27G>A) c.2124+27G>A (n.2124+27G>A) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.68761509T>C | CA600239618 | CPT1A | c.2028+26A>G (n.2028+26A>G) c.2124+26A>G (n.2124+26A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68761510G>T | CA2614730986 | CPT1A | c.2028+25C>A (n.2028+25C>A) c.2124+25C>A (n.2124+25C>A) | gnomAD v4 |
11 | g.68761512C>T | CA6152121 | CPT1A | c.2028+23G>A (n.2028+23G>A) c.2124+23G>A (n.2124+23G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68761513G>A | CA6152123 | CPT1A | c.2028+22C>T (n.2028+22C>T) c.2124+22C>T (n.2124+22C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68761514del | CA6152122 | CPT1A | c.2028+22del (n.2028+22del) c.2124+22del (n.2124+22del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.68761518_68761520del | CA679631578 | CPT1A | c.2028+19_2028+21del (n.2028+19_2028+21del) c.2124+19_2124+21del (n.2124+19_2124+21del) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.68761515A>G | CA2614731002 | CPT1A | c.2028+20T>C (n.2028+20T>C) c.2124+20T>C (n.2124+20T>C) | gnomAD v4 |
11 | g.68761516A>G | CA2739270619 | CPT1A | c.2028+19T>C (n.2028+19T>C) c.2124+19T>C (n.2124+19T>C) | ClinVar |
11 | g.68761518A>C | CA2520701639 | CPT1A | c.2028+17T>G (n.2028+17T>G) c.2124+17T>G (n.2124+17T>G) | dbSNP |
11 | g.68761519A>C | CA2574903106 | CPT1A | c.2028+16T>G (n.2028+16T>G) c.2124+16T>G (n.2124+16T>G) | gnomAD v4 |
11 | g.68761520G>A | CA2574903107 | CPT1A | c.2028+15C>T (n.2028+15C>T) c.2124+15C>T (n.2124+15C>T) | dbSNP |
11 | g.68761522G>A | CA2724265039 | CPT1A | c.2028+13C>T (n.2028+13C>T) c.2124+13C>T (n.2124+13C>T) | dbSNP |
11 | g.68761523G>C | CA6152124 | CPT1A | c.2028+12C>G (n.2028+12C>G) c.2124+12C>G (n.2124+12C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.68761524A>T | CA2724265041 | CPT1A | c.2028+11T>A (n.2028+11T>A) c.2124+11T>A (n.2124+11T>A) | ClinVar dbSNP |
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) |