Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.68759475T>C | CA2614740140 | CPT1A | c.2235+94A>G (n.2235+94A>G) c.2331+94A>G (n.2331+94A>G) | gnomAD v4 |
11 | g.68759476G>A | CA2574903027 | CPT1A | c.2235+93C>T (n.2235+93C>T) c.2331+93C>T (n.2331+93C>T) | gnomAD v4 |
11 | g.68759476G>T | CA2614740142 | CPT1A | c.2235+93C>A (n.2235+93C>A) c.2331+93C>A (n.2331+93C>A) | gnomAD v4 |
11 | g.68759478dup | CA223365610 | CPT1A | c.2235+91dup (n.2235+91dup) c.2331+91dup (n.2331+91dup) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68759479T>G | CA939164650 | CPT1A | c.2235+90A>C (n.2235+90A>C) c.2331+90A>C (n.2331+90A>C) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.68759483dup | CA2614740147 | CPT1A | c.2235+90dup (n.2235+90dup) c.2331+90dup (n.2331+90dup) | gnomAD v4 |
11 | g.68759483T>C | CA223365612 | CPT1A | c.2235+86A>G (n.2235+86A>G) c.2331+86A>G (n.2331+86A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68759484C>A | CA679630342 | CPT1A | c.2235+85G>T (n.2235+85G>T) c.2331+85G>T (n.2331+85G>T) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.68759485T>C | CA223365615 | CPT1A | c.2235+84A>G (n.2235+84A>G) c.2331+84A>G (n.2331+84A>G) | dbSNP gnomAD v4 |
11 | g.68759486G>C | CA679630343 | CPT1A | c.2235+83C>G (n.2235+83C>G) c.2331+83C>G (n.2331+83C>G) | dbSNP |
11 | g.68759486G>T | CA2574903028 | CPT1A | c.2235+83C>A (n.2235+83C>A) c.2331+83C>A (n.2331+83C>A) | gnomAD v4 |
11 | g.68759487T>C | CA2724352223 | CPT1A | c.2235+82A>G (n.2235+82A>G) c.2331+82A>G (n.2331+82A>G) | dbSNP |
11 | g.68759488C>A | CA2614740158 | CPT1A | c.2235+81G>T (n.2235+81G>T) c.2331+81G>T (n.2331+81G>T) | gnomAD v4 |
11 | g.68759488C>T | CA2574903029 | CPT1A | c.2235+81G>A (n.2235+81G>A) c.2331+81G>A (n.2331+81G>A) | |
11 | g.68759492T>A | CA2614740159 | CPT1A | c.2235+77A>T (n.2235+77A>T) c.2331+77A>T (n.2331+77A>T) | gnomAD v4 |
11 | g.68759492T>C | CA2724352224 | CPT1A | c.2235+77A>G (n.2235+77A>G) c.2331+77A>G (n.2331+77A>G) | dbSNP |
11 | g.68759493T>G | CA599985054 | CPT1A | c.2235+76A>C (n.2235+76A>C) c.2331+76A>C (n.2331+76A>C) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.68759494A>G | CA2614740163 | CPT1A | c.2235+75T>C (n.2235+75T>C) c.2331+75T>C (n.2331+75T>C) | gnomAD v4 |
11 | g.68759494A>T | CA2574903030 | CPT1A | c.2235+75T>A (n.2235+75T>A) c.2331+75T>A (n.2331+75T>A) | gnomAD v4 |
11 | g.68759496dup | CA939164654 | CPT1A | c.2235+75dup (n.2235+75dup) c.2331+75dup (n.2331+75dup) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.68759497G>A | CA223365618 | CPT1A | c.2235+72C>T (n.2235+72C>T) c.2331+72C>T (n.2331+72C>T) | dbSNP gnomAD v4 |
11 | g.68759497G>C | CA2614740169 | CPT1A | c.2235+72C>G (n.2235+72C>G) c.2331+72C>G (n.2331+72C>G) | gnomAD v4 |
11 | g.68759497G>T | CA2614740170 | CPT1A | c.2235+72C>A (n.2235+72C>A) c.2331+72C>A (n.2331+72C>A) | gnomAD v4 |
11 | g.68759498A>G | CA2614740172 | CPT1A | c.2235+71T>C (n.2235+71T>C) c.2331+71T>C (n.2331+71T>C) | gnomAD v4 |
11 | g.68759499T>C | CA223365622 | CPT1A | c.2235+70A>G (n.2235+70A>G) c.2331+70A>G (n.2331+70A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68759502_68759503del | CA2614740175 | CPT1A | c.2235+69_2235+70del (n.2235+69_2235+70del) c.2331+69_2331+70del (n.2331+69_2331+70del) | gnomAD v4 |
11 | g.68759500G>T | CA2574903031 | CPT1A | c.2235+69C>A (n.2235+69C>A) c.2331+69C>A (n.2331+69C>A) | gnomAD v4 |
11 | g.68759501T>G | CA2614740178 | CPT1A | c.2235+68A>C (n.2235+68A>C) c.2331+68A>C (n.2331+68A>C) | dbSNP gnomAD v4 |
11 | g.68759502G>A | CA939164657 | CPT1A | c.2235+67C>T (n.2235+67C>T) c.2331+67C>T (n.2331+67C>T) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.68759502G>T | CA2614740180 | CPT1A | c.2235+67C>A (n.2235+67C>A) c.2331+67C>A (n.2331+67C>A) | gnomAD v4 |
11 | g.68759503T>C | CA2614740182 | CPT1A | c.2235+66A>G (n.2235+66A>G) c.2331+66A>G (n.2331+66A>G) | gnomAD v4 |
11 | g.68759505T>A | CA223365625 | CPT1A | c.2235+64A>T (n.2235+64A>T) c.2331+64A>T (n.2331+64A>T) | dbSNP |
11 | g.68759508T>C | CA2614740185 | CPT1A | c.2235+61A>G (n.2235+61A>G) c.2331+61A>G (n.2331+61A>G) | gnomAD v4 |
11 | g.68759508T>G | CA679630347 | CPT1A | c.2235+61A>C (n.2235+61A>C) c.2331+61A>C (n.2331+61A>C) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.68759509T>C | CA939164659 | CPT1A | c.2235+60A>G (n.2235+60A>G) c.2331+60A>G (n.2331+60A>G) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.68759510A>T | CA2574903032 | CPT1A | c.2235+59T>A (n.2235+59T>A) c.2331+59T>A (n.2331+59T>A) | gnomAD v4 |
11 | g.68759511A>C | CA223365628 | CPT1A | c.2235+58T>G (n.2235+58T>G) c.2331+58T>G (n.2331+58T>G) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.68759512A>G | CA2614740191 | CPT1A | c.2235+57T>C (n.2235+57T>C) c.2331+57T>C (n.2331+57T>C) | gnomAD v4 |
11 | g.68759514A>G | CA2574903033 | CPT1A | c.2235+55T>C (n.2235+55T>C) c.2331+55T>C (n.2331+55T>C) | |
11 | g.68759515G>A | CA223365630 | CPT1A | c.2235+54C>T (n.2235+54C>T) c.2331+54C>T (n.2331+54C>T) | dbSNP |
11 | g.68759515G>C | CA2792552356 | CPT1A | c.2235+54C>G (n.2235+54C>G) c.2331+54C>G (n.2331+54C>G) | |
11 | g.68759515G>T | CA223365632 | CPT1A | c.2235+54C>A (n.2235+54C>A) c.2331+54C>A (n.2331+54C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68759517A>G | CA679630349 | CPT1A | c.2235+52T>C (n.2235+52T>C) c.2331+52T>C (n.2331+52T>C) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.68759518T>C | CA2614740193 | CPT1A | c.2235+51A>G (n.2235+51A>G) c.2331+51A>G (n.2331+51A>G) | gnomAD v4 |
11 | g.68759521del | CA939164670 | CPT1A | c.2235+50del (n.2235+50del) c.2331+50del (n.2331+50del) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.68759520A>C | CA2614740194 | CPT1A | c.2235+49T>G (n.2235+49T>G) c.2331+49T>G (n.2331+49T>G) | gnomAD v4 |
11 | g.68759520A>T | CA2574903034 | CPT1A | c.2235+49T>A (n.2235+49T>A) c.2331+49T>A (n.2331+49T>A) | |
11 | g.68759522G>A | CA223365635 | CPT1A | c.2235+47C>T (n.2235+47C>T) c.2331+47C>T (n.2331+47C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68759522G>T | CA2614740197 | CPT1A | c.2235+47C>A (n.2235+47C>A) c.2331+47C>A (n.2331+47C>A) | gnomAD v4 |
11 | g.68759523C>A | CA2614740201 | CPT1A | c.2235+46G>T (n.2235+46G>T) c.2331+46G>T (n.2331+46G>T) | gnomAD v4 |
11 | g.68759525A>G | CA2724352226 | CPT1A | c.2235+44T>C (n.2235+44T>C) c.2331+44T>C (n.2331+44T>C) | dbSNP |
11 | g.68759531C>A | CA6152036 | CPT1A | c.2235+38G>T (n.2235+38G>T) c.2331+38G>T (n.2331+38G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68759534del | CA599985058 | CPT1A | c.2235+38del (n.2235+38del) c.2331+38del (n.2331+38del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68759533C>T | CA2614740209 | CPT1A | c.2235+36G>A (n.2235+36G>A) c.2331+36G>A (n.2331+36G>A) | gnomAD v4 |
11 | g.68759541A>G | CA939164682 | CPT1A | c.2235+28T>C (n.2235+28T>C) c.2331+28T>C (n.2331+28T>C) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.68759541A>T | CA2614740212 | CPT1A | c.2235+28T>A (n.2235+28T>A) c.2331+28T>A (n.2331+28T>A) | gnomAD v4 |
11 | g.68759542G>A | CA6152037 | CPT1A | c.2235+27C>T (n.2235+27C>T) c.2331+27C>T (n.2331+27C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68759542G>C | CA2614740217 | CPT1A | c.2235+27C>G (n.2235+27C>G) c.2331+27C>G (n.2331+27C>G) | gnomAD v4 |
11 | g.68759542G>T | CA2614740215 | CPT1A | c.2235+27C>A (n.2235+27C>A) c.2331+27C>A (n.2331+27C>A) | gnomAD v4 |
11 | g.68759543A>G | CA2574903035 | CPT1A | c.2235+26T>C (n.2235+26T>C) c.2331+26T>C (n.2331+26T>C) | |
11 | g.68759547dup | CA2792552357 | CPT1A | c.2235+26dup (n.2235+26dup) c.2331+26dup (n.2331+26dup) | |
11 | g.68759544A>C | CA2724352229 | CPT1A | c.2235+25T>G (n.2235+25T>G) c.2331+25T>G (n.2331+25T>G) | dbSNP |
11 | g.68759545A>T | CA2614740218 | CPT1A | c.2235+24T>A (n.2235+24T>A) c.2331+24T>A (n.2331+24T>A) | gnomAD v4 |
11 | g.68759547A>G | CA939164704 | CPT1A | c.2235+22T>C (n.2235+22T>C) c.2331+22T>C (n.2331+22T>C) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.68759548G>T | CA939164706 | CPT1A | c.2235+21C>A (n.2235+21C>A) c.2331+21C>A (n.2331+21C>A) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.68759549G>A | CA599985061 | CPT1A | c.2235+20C>T (n.2235+20C>T) c.2331+20C>T (n.2331+20C>T) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.68759549G>T | CA2614740220 | CPT1A | c.2235+20C>A (n.2235+20C>A) c.2331+20C>A (n.2331+20C>A) | ClinVar gnomAD v4 |
11 | g.68759553T>C | CA2574903036 | CPT1A | c.2235+16A>G (n.2235+16A>G) c.2331+16A>G (n.2331+16A>G) | ClinVar gnomAD v4 |
11 | g.68759554T>G | CA2697548777 | CPT1A | c.2235+15A>C (n.2235+15A>C) c.2331+15A>C (n.2331+15A>C) | ClinVar |
11 | g.68759555C>A | CA679630354 | CPT1A | c.2235+14G>T (n.2235+14G>T) c.2331+14G>T (n.2331+14G>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.68759555C>T | CA6152038 | CPT1A | c.2235+14G>A (n.2235+14G>A) c.2331+14G>A (n.2331+14G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68759560C>T | CA1139662066 | CPT1A | c.2235+9G>A (n.2235+9G>A) c.2331+9G>A (n.2331+9G>A) | ClinVar dbSNP gnomAD v4 |
11 | g.68759561A>G | CA2740093090 | CPT1A | c.2235+8T>C (n.2235+8T>C) c.2331+8T>C (n.2331+8T>C) | ClinVar |
11 | g.68759562T>C | CA2724352230 | CPT1A | c.2235+7A>G (n.2235+7A>G) c.2331+7A>G (n.2331+7A>G) | dbSNP |
11 | g.68759563A>G | CA2614740233 | CPT1A | c.2235+6T>C (n.2235+6T>C) c.2331+6T>C (n.2331+6T>C) | gnomAD v4 |
11 | g.68759564C>T | CA6152039 | CPT1A | c.2235+5G>A (n.2235+5G>A) c.2331+5G>A (n.2331+5G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68759565A>G | CA6152040 | CPT1A | c.2235+4T>C (n.2235+4T>C) c.2331+4T>C (n.2331+4T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68759565A>T | CA2517596326 | CPT1A | c.2235+4T>A (n.2235+4T>A) c.2331+4T>A (n.2331+4T>A) | |
11 | g.68759566T>C | CA2614740237 | CPT1A | c.2235+3A>G (n.2235+3A>G) c.2331+3A>G (n.2331+3A>G) | gnomAD v4 |
11 | g.68759567A>C | CA381625330 | CPT1A | c.2235+2T>G (n.2235+2T>G) c.2331+2T>G (n.2331+2T>G) | |
11 | g.68759567A>G | CA381625331 | CPT1A | c.2235+2T>C (n.2235+2T>C) c.2331+2T>C (n.2331+2T>C) | gnomAD v4 |
11 | g.68759567A>T | CA381625334 | CPT1A | c.2235+2T>A (n.2235+2T>A) c.2331+2T>A (n.2331+2T>A) | |
11 | g.68759568C>A | CA381625336 | CPT1A | c.2235+1G>T (n.2235+1G>T) c.2331+1G>T (n.2331+1G>T) | |
11 | g.68759568C>G | CA381625338 | CPT1A | c.2235+1G>C (n.2235+1G>C) c.2331+1G>C (n.2331+1G>C) | |
11 | g.68759568C>T | CA381625340 | CPT1A | c.2235+1G>A (n.2235+1G>A) c.2331+1G>A (n.2331+1G>A) | gnomAD v4 |
11 | g.68759569C>A | CA475181611 | CPT1A | c.2235G>T (p.Thr745=) c.2331G>T (p.Thr777=) | |
11 | g.68759569C>G | CA475181612 | CPT1A | c.2235G>C (p.Thr745=) c.2331G>C (p.Thr777=) | |
11 | g.68759569C>T | CA6152041 | CPT1A | c.2235G>A (p.Thr745=) c.2331G>A (p.Thr777=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68759570G>A | CA6152042 | CPT1A | c.2234C>T (p.Thr745Met) c.2330C>T (p.Thr777Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
11 | g.68759570G>C | CA381625350 | CPT1A | c.2234C>G (p.Thr745Arg) c.2330C>G (p.Thr777Arg) | |
11 | g.68759570G>T | CA381625345 | CPT1A | c.2234C>A (p.Thr745Lys) c.2330C>A (p.Thr777Lys) | gnomAD v4 |
11 | g.68759571T>A | CA381625357 | CPT1A | c.2233A>T (p.Thr745Ser) c.2329A>T (p.Thr777Ser) | |
11 | g.68759571T>C | CA381625353 | CPT1A | c.2233A>G (p.Thr745Ala) c.2329A>G (p.Thr777Ala) | |
11 | g.68759571T>G | CA381625355 | CPT1A | c.2233A>C (p.Thr745Pro) c.2329A>C (p.Thr777Pro) | |
11 | g.68759572C>A | CA381625359 | CPT1A | c.2232G>T (p.Glu744Asp) c.2328G>T (p.Glu776Asp) | |
11 | g.68759572C>G | CA381625361 | CPT1A | c.2232G>C (p.Glu744Asp) c.2328G>C (p.Glu776Asp) | |
11 | g.68759572C>T | CA475181613 | CPT1A | c.2232G>A (p.Glu744=) c.2328G>A (p.Glu776=) | |
11 | g.68759573T>A | CA381625364 | CPT1A | c.2231A>T (p.Glu744Val) c.2327A>T (p.Glu776Val) | |
11 | g.68759573T>C | CA381625367 | CPT1A | c.2231A>G (p.Glu744Gly) c.2327A>G (p.Glu776Gly) | |
11 | g.68759573T>G | CA381625369 | CPT1A | c.2231A>C (p.Glu744Ala) c.2327A>C (p.Glu776Ala) | |
11 | g.68759574C>A | CA381625372 | CPT1A | c.2230G>T (p.Glu744Ter) c.2326G>T (p.Glu776Ter) | |
11 | g.68759574C>G | CA381625374 | CPT1A | c.2230G>C (p.Glu744Gln) c.2326G>C (p.Glu776Gln) | |
11 | g.68759574C>T | CA381625376 | CPT1A | c.2230G>A (p.Glu744Lys) c.2326G>A (p.Glu776Lys) | COSMIC |
11 | g.68759575A>C | CA475181614 | CPT1A | c.2229T>G (p.Pro743=) c.2325T>G (p.Pro775=) | |
11 | g.68759575A>G | CA475181615 | CPT1A | c.2229T>C (p.Pro743=) c.2325T>C (p.Pro775=) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.68759575A>T | CA475181616 | CPT1A | c.2229T>A (p.Pro743=) c.2325T>A (p.Pro775=) |