Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.68759370G>A | CA223365566 | CPT1A | c.2235+199C>T (n.2235+199C>T) c.2331+199C>T (n.2331+199C>T) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.68759373C>A | CA939164579 | CPT1A | c.2235+196G>T (n.2235+196G>T) c.2331+196G>T (n.2331+196G>T) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.68759373C>T | CA599985029 | CPT1A | c.2235+196G>A (n.2235+196G>A) c.2331+196G>A (n.2331+196G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68759374G>A | CA679630296 | CPT1A | c.2235+195C>T (n.2235+195C>T) c.2331+195C>T (n.2331+195C>T) | dbSNP |
11 | g.68759376_68759377del | CA223365568 | CPT1A | c.2235+193_2235+194del (n.2235+193_2235+194del) c.2331+193_2331+194del (n.2331+193_2331+194del) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.68759378G>A | CA939164582 | CPT1A | c.2235+191C>T (n.2235+191C>T) c.2331+191C>T (n.2331+191C>T) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.68759378G>C | CA939164580 | CPT1A | c.2235+191C>G (n.2235+191C>G) c.2331+191C>G (n.2331+191C>G) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.68759380G>A | CA2792552351 | CPT1A | c.2235+189C>T (n.2235+189C>T) c.2331+189C>T (n.2331+189C>T) | |
11 | g.68759381T>C | CA939164584 | CPT1A | c.2235+188A>G (n.2235+188A>G) c.2331+188A>G (n.2331+188A>G) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.68759382G>A | CA223365571 | CPT1A | c.2235+187C>T (n.2235+187C>T) c.2331+187C>T (n.2331+187C>T) | dbSNP COSMIC |
11 | g.68759384_68759385del | CA223365569 | CPT1A | c.2235+186_2235+187del (n.2235+186_2235+187del) c.2331+186_2331+187del (n.2331+186_2331+187del) | dbSNP |
11 | g.68759385A>T | CA2724352218 | CPT1A | c.2235+184T>A (n.2235+184T>A) c.2331+184T>A (n.2331+184T>A) | dbSNP |
11 | g.68759386C>G | CA2724352219 | CPT1A | c.2235+183G>C (n.2235+183G>C) c.2331+183G>C (n.2331+183G>C) | dbSNP |
11 | g.68759387T>C | CA939164586 | CPT1A | c.2235+182A>G (n.2235+182A>G) c.2331+182A>G (n.2331+182A>G) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.68759388G>C | CA939164602 | CPT1A | c.2235+181C>G (n.2235+181C>G) c.2331+181C>G (n.2331+181C>G) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.68759388G>T | CA939164603 | CPT1A | c.2235+181C>A (n.2235+181C>A) c.2331+181C>A (n.2331+181C>A) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.68759389T>G | CA2724352220 | CPT1A | c.2235+180A>C (n.2235+180A>C) c.2331+180A>C (n.2331+180A>C) | dbSNP |
11 | g.68759391T>A | CA2792552352 | CPT1A | c.2235+178A>T (n.2235+178A>T) c.2331+178A>T (n.2331+178A>T) | |
11 | g.68759391T>C | CA223365575 | CPT1A | c.2235+178A>G (n.2235+178A>G) c.2331+178A>G (n.2331+178A>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68759392C>T | CA223365577 | CPT1A | c.2235+177G>A (n.2235+177G>A) c.2331+177G>A (n.2331+177G>A) | dbSNP |
11 | g.68759393T>A | CA939164608 | CPT1A | c.2235+176A>T (n.2235+176A>T) c.2331+176A>T (n.2331+176A>T) | gnomAD v3 gnomAD v4 |
11 | g.68759394C>A | CA223365582 | CPT1A | c.2235+175G>T (n.2235+175G>T) c.2331+175G>T (n.2331+175G>T) | dbSNP |
11 | g.68759395dup | CA223365580 | CPT1A | c.2235+175dup (n.2235+175dup) c.2331+175dup (n.2331+175dup) | dbSNP |
11 | g.68759394_68759395insA | CA939164614 | CPT1A | c.2235+174_2235+175insT (n.2235+174_2235+175insT) c.2331+174_2331+175insT (n.2331+174_2331+175insT) | gnomAD v3 gnomAD v4 |
11 | g.68759395C>A | CA599985034 | CPT1A | c.2235+174G>T (n.2235+174G>T) c.2331+174G>T (n.2331+174G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68759396A>C | CA2724352221 | CPT1A | c.2235+173T>G (n.2235+173T>G) c.2331+173T>G (n.2331+173T>G) | dbSNP |
11 | g.68759408dup | CA223365584 | CPT1A | c.2235+173dup (n.2235+173dup) c.2331+173dup (n.2331+173dup) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68759407_68759408dup | CA939164619 | CPT1A | c.2235+172_2235+173dup (n.2235+172_2235+173dup) c.2331+172_2331+173dup (n.2331+172_2331+173dup) | gnomAD v3 gnomAD v4 |
11 | g.68759405_68759408dup | CA2497319441 | CPT1A | c.2235+170_2235+173dup (n.2235+170_2235+173dup) c.2331+170_2331+173dup (n.2331+170_2331+173dup) | dbSNP |
11 | g.68759408del | CA599985035 | CPT1A | c.2235+173del (n.2235+173del) c.2331+173del (n.2331+173del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68759407_68759408del | CA939164622 | CPT1A | c.2235+172_2235+173del (n.2235+172_2235+173del) c.2331+172_2331+173del (n.2331+172_2331+173del) | gnomAD v3 gnomAD v4 |
11 | g.68759397A>C | CA223365587 | CPT1A | c.2235+172T>G (n.2235+172T>G) c.2331+172T>G (n.2331+172T>G) | dbSNP |
11 | g.68759400_68759401insC | CA2497319442 | CPT1A | c.2235+168_2235+169insG (n.2235+168_2235+169insG) c.2331+168_2331+169insG (n.2331+168_2331+169insG) | dbSNP |
11 | g.68759402A>T | CA2792552353 | CPT1A | c.2235+167T>A (n.2235+167T>A) c.2331+167T>A (n.2331+167T>A) | |
11 | g.68759406_68759421del | CA679630308 | CPT1A | c.2235+152_2235+167del (n.2235+152_2235+167del) c.2331+152_2331+167del (n.2331+152_2331+167del) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.68759402_68759403insG | CA679630314 | CPT1A | c.2235+166_2235+167insC (n.2235+166_2235+167insC) c.2331+166_2331+167insC (n.2331+166_2331+167insC) | dbSNP |
11 | g.68759403A>C | CA679630313 | CPT1A | c.2235+166T>G (n.2235+166T>G) c.2331+166T>G (n.2331+166T>G) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.68759404A>G | CA2724352222 | CPT1A | c.2235+165T>C (n.2235+165T>C) c.2331+165T>C (n.2331+165T>C) | dbSNP |
11 | g.68759405_68759406insG | CA2497319443 | CPT1A | c.2235+163_2235+164insC (n.2235+163_2235+164insC) c.2331+163_2331+164insC (n.2331+163_2331+164insC) | dbSNP |
11 | g.68759408A>T | CA599985038 | CPT1A | c.2235+161T>A (n.2235+161T>A) c.2331+161T>A (n.2331+161T>A) | dbSNP gnomAD v2 |
11 | g.68759408_68759409del | CA939164629 | CPT1A | c.2235+160_2235+161del (n.2235+160_2235+161del) c.2331+160_2331+161del (n.2331+160_2331+161del) | gnomAD v3 gnomAD v4 |
11 | g.68759409T>A | CA599985046 | CPT1A | c.2235+160A>T (n.2235+160A>T) c.2331+160A>T (n.2331+160A>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
11 | g.68759417dup | CA599985043 | CPT1A | c.2235+160dup (n.2235+160dup) c.2331+160dup (n.2331+160dup) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68759417del | CA223365589 | CPT1A | c.2235+160del (n.2235+160del) c.2331+160del (n.2331+160del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68759411T>C | CA223365592 | CPT1A | c.2235+158A>G (n.2235+158A>G) c.2331+158A>G (n.2331+158A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68759411T>G | CA2724200266 | CPT1A | c.2235+158A>C (n.2235+158A>C) c.2331+158A>C (n.2331+158A>C) | dbSNP |
11 | g.68759417T>A | CA223365595 | CPT1A | c.2235+152A>T (n.2235+152A>T) c.2331+152A>T (n.2331+152A>T) | dbSNP gnomAD v4 |
11 | g.68759417T>G | CA679630324 | CPT1A | c.2235+152A>C (n.2235+152A>C) c.2331+152A>C (n.2331+152A>C) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.68759418A>T | CA223365597 | CPT1A | c.2235+151T>A (n.2235+151T>A) c.2331+151T>A (n.2331+151T>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68759423_68759425del | CA2614740042 | CPT1A | c.2235+146_2235+148del (n.2235+146_2235+148del) c.2331+146_2331+148del (n.2331+146_2331+148del) | gnomAD v4 |
11 | g.68759422G>T | CA2614740062 | CPT1A | c.2235+147C>A (n.2235+147C>A) c.2331+147C>A (n.2331+147C>A) | gnomAD v4 |
11 | g.68759423C>A | CA2614740063 | CPT1A | c.2235+146G>T (n.2235+146G>T) c.2331+146G>T (n.2331+146G>T) | gnomAD v4 |
11 | g.68759424del | CA939164640 | CPT1A | c.2235+145del (n.2235+145del) c.2331+145del (n.2331+145del) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.68759425G>T | CA2614740064 | CPT1A | c.2235+144C>A (n.2235+144C>A) c.2331+144C>A (n.2331+144C>A) | gnomAD v4 |
11 | g.68759426T>A | CA2614740065 | CPT1A | c.2235+143A>T (n.2235+143A>T) c.2331+143A>T (n.2331+143A>T) | gnomAD v4 |
11 | g.68759427C>A | CA2614740066 | CPT1A | c.2235+142G>T (n.2235+142G>T) c.2331+142G>T (n.2331+142G>T) | gnomAD v4 |
11 | g.68759428C>T | CA2614740068 | CPT1A | c.2235+141G>A (n.2235+141G>A) c.2331+141G>A (n.2331+141G>A) | gnomAD v4 |
11 | g.68759429A>C | CA2614740069 | CPT1A | c.2235+140T>G (n.2235+140T>G) c.2331+140T>G (n.2331+140T>G) | gnomAD v4 |
11 | g.68759429A>G | CA2614740070 | CPT1A | c.2235+140T>C (n.2235+140T>C) c.2331+140T>C (n.2331+140T>C) | gnomAD v4 |
11 | g.68759430T>G | CA2614740072 | CPT1A | c.2235+139A>C (n.2235+139A>C) c.2331+139A>C (n.2331+139A>C) | gnomAD v4 |
11 | g.68759430_68759432del | CA2614740071 | CPT1A | c.2235+137_2235+139del (n.2235+137_2235+139del) c.2331+137_2331+139del (n.2331+137_2331+139del) | gnomAD v4 |
11 | g.68759433A>T | CA2614740073 | CPT1A | c.2235+136T>A (n.2235+136T>A) c.2331+136T>A (n.2331+136T>A) | dbSNP gnomAD v4 |
11 | g.68759434T>C | CA2614740075 | CPT1A | c.2235+135A>G (n.2235+135A>G) c.2331+135A>G (n.2331+135A>G) | dbSNP gnomAD v4 |
11 | g.68759435G>T | CA2614740076 | CPT1A | c.2235+134C>A (n.2235+134C>A) c.2331+134C>A (n.2331+134C>A) | gnomAD v4 |
11 | g.68759436T>C | CA2614740077 | CPT1A | c.2235+133A>G (n.2235+133A>G) c.2331+133A>G (n.2331+133A>G) | dbSNP gnomAD v4 |
11 | g.68759437G>A | CA2614740078 | CPT1A | c.2235+132C>T (n.2235+132C>T) c.2331+132C>T (n.2331+132C>T) | gnomAD v4 |
11 | g.68759437G>T | CA2614740079 | CPT1A | c.2235+132C>A (n.2235+132C>A) c.2331+132C>A (n.2331+132C>A) | gnomAD v4 |
11 | g.68759438A>G | CA2614740081 | CPT1A | c.2235+131T>C (n.2235+131T>C) c.2331+131T>C (n.2331+131T>C) | gnomAD v4 |
11 | g.68759439A>G | CA2614740082 | CPT1A | c.2235+130T>C (n.2235+130T>C) c.2331+130T>C (n.2331+130T>C) | gnomAD v4 |
11 | g.68759442T>G | CA2614740083 | CPT1A | c.2235+127A>C (n.2235+127A>C) c.2331+127A>C (n.2331+127A>C) | gnomAD v4 |
11 | g.68759443T>G | CA2724559329 | CPT1A | c.2235+126A>C (n.2235+126A>C) c.2331+126A>C (n.2331+126A>C) | dbSNP |
11 | g.68759444C>T | CA679630328 | CPT1A | c.2235+125G>A (n.2235+125G>A) c.2331+125G>A (n.2331+125G>A) | dbSNP gnomAD v4 |
11 | g.68759446C>A | CA2614740085 | CPT1A | c.2235+123G>T (n.2235+123G>T) c.2331+123G>T (n.2331+123G>T) | gnomAD v4 |
11 | g.68759446C>T | CA223365600 | CPT1A | c.2235+123G>A (n.2235+123G>A) c.2331+123G>A (n.2331+123G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68759447G>A | CA223365602 | CPT1A | c.2235+122C>T (n.2235+122C>T) c.2331+122C>T (n.2331+122C>T) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.68759447G>T | CA2614740089 | CPT1A | c.2235+122C>A (n.2235+122C>A) c.2331+122C>A (n.2331+122C>A) | gnomAD v4 |
11 | g.68759450A>G | CA223365606 | CPT1A | c.2235+119T>C (n.2235+119T>C) c.2331+119T>C (n.2331+119T>C) | dbSNP gnomAD v4 |
11 | g.68759451T>C | CA2614740093 | CPT1A | c.2235+118A>G (n.2235+118A>G) c.2331+118A>G (n.2331+118A>G) | dbSNP gnomAD v4 |
11 | g.68759452C>A | CA2614740095 | CPT1A | c.2235+117G>T (n.2235+117G>T) c.2331+117G>T (n.2331+117G>T) | gnomAD v4 |
11 | g.68759452C>G | CA679630333 | CPT1A | c.2235+117G>C (n.2235+117G>C) c.2331+117G>C (n.2331+117G>C) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.68759452C>T | CA2614740094 | CPT1A | c.2235+117G>A (n.2235+117G>A) c.2331+117G>A (n.2331+117G>A) | gnomAD v4 |
11 | g.68759453A>T | CA2614740098 | CPT1A | c.2235+116T>A (n.2235+116T>A) c.2331+116T>A (n.2331+116T>A) | gnomAD v4 |
11 | g.68759454A>G | CA2614740099 | CPT1A | c.2235+115T>C (n.2235+115T>C) c.2331+115T>C (n.2331+115T>C) | gnomAD v4 |
11 | g.68759455G>A | CA2614740102 | CPT1A | c.2235+114C>T (n.2235+114C>T) c.2331+114C>T (n.2331+114C>T) | gnomAD v4 |
11 | g.68759455G>T | CA2614740103 | CPT1A | c.2235+114C>A (n.2235+114C>A) c.2331+114C>A (n.2331+114C>A) | gnomAD v4 |
11 | g.68759456T>A | CA2614740105 | CPT1A | c.2235+113A>T (n.2235+113A>T) c.2331+113A>T (n.2331+113A>T) | gnomAD v4 |
11 | g.68759460del | CA2614740106 | CPT1A | c.2235+112del (n.2235+112del) c.2331+112del (n.2331+112del) | gnomAD v4 |
11 | g.68759459_68759460del | CA2614740107 | CPT1A | c.2235+111_2235+112del (n.2235+111_2235+112del) c.2331+111_2331+112del (n.2331+111_2331+112del) | gnomAD v4 |
11 | g.68759461G>C | CA2614740109 | CPT1A | c.2235+108C>G (n.2235+108C>G) c.2331+108C>G (n.2331+108C>G) | gnomAD v4 |
11 | g.68759461G>T | CA2614740114 | CPT1A | c.2235+108C>A (n.2235+108C>A) c.2331+108C>A (n.2331+108C>A) | gnomAD v4 |
11 | g.68759462C>A | CA2614740117 | CPT1A | c.2235+107G>T (n.2235+107G>T) c.2331+107G>T (n.2331+107G>T) | gnomAD v4 |
11 | g.68759463A>G | CA2614740118 | CPT1A | c.2235+106T>C (n.2235+106T>C) c.2331+106T>C (n.2331+106T>C) | gnomAD v4 |
11 | g.68759463A>T | CA2614740123 | CPT1A | c.2235+106T>A (n.2235+106T>A) c.2331+106T>A (n.2331+106T>A) | gnomAD v4 |
11 | g.68759464G>A | CA2614740125 | CPT1A | c.2235+105C>T (n.2235+105C>T) c.2331+105C>T (n.2331+105C>T) | gnomAD v4 |
11 | g.68759465G>C | CA2614740128 | CPT1A | c.2235+104C>G (n.2235+104C>G) c.2331+104C>G (n.2331+104C>G) | dbSNP gnomAD v4 |
11 | g.68759466C>A | CA2614740129 | CPT1A | c.2235+103G>T (n.2235+103G>T) c.2331+103G>T (n.2331+103G>T) | gnomAD v4 |
11 | g.68759468G>T | CA599985050 | CPT1A | c.2235+101C>A (n.2235+101C>A) c.2331+101C>A (n.2331+101C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68759469T>C | CA599985052 | CPT1A | c.2235+100A>G (n.2235+100A>G) c.2331+100A>G (n.2331+100A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68759469T>G | CA2574903026 | CPT1A | c.2235+100A>C (n.2235+100A>C) c.2331+100A>C (n.2331+100A>C) | |
11 | g.68759470T>A | CA2792552354 | CPT1A | c.2235+99A>T (n.2235+99A>T) c.2331+99A>T (n.2331+99A>T) | |
11 | g.68759470T>G | CA2614740131 | CPT1A | c.2235+99A>C (n.2235+99A>C) c.2331+99A>C (n.2331+99A>C) | gnomAD v4 |