Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.68803910A>C | CA2792553638 | CPT1A | c.555+90T>G (n.555+90T>G) c.651+90T>G (n.651+90T>G) | |
11 | g.68803912T>C | CA2614740790 | CPT1A | c.555+88A>G (n.555+88A>G) c.651+88A>G (n.651+88A>G) | gnomAD v4 |
11 | g.68803913G>T | CA2614740792 | CPT1A | c.555+87C>A (n.555+87C>A) c.651+87C>A (n.651+87C>A) | gnomAD v4 |
11 | g.68803914G>A | CA2614740794 | CPT1A | c.555+86C>T (n.555+86C>T) c.651+86C>T (n.651+86C>T) | dbSNP gnomAD v4 |
11 | g.68803914G>T | CA2574903427 | CPT1A | c.555+86C>A (n.555+86C>A) c.651+86C>A (n.651+86C>A) | dbSNP gnomAD v4 |
11 | g.68803915_68803916del | CA2574903428 | CPT1A | c.555+85_555+86del (n.555+85_555+86del) c.651+85_651+86del (n.651+85_651+86del) | |
11 | g.68803915C>G | CA2614740800 | CPT1A | c.555+85G>C (n.555+85G>C) c.651+85G>C (n.651+85G>C) | gnomAD v4 |
11 | g.68803915C>T | CA2574903429 | CPT1A | c.555+85G>A (n.555+85G>A) c.651+85G>A (n.651+85G>A) | dbSNP gnomAD v4 |
11 | g.68803916G>A | CA223393387 | CPT1A | c.555+84C>T (n.555+84C>T) c.651+84C>T (n.651+84C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68803916G>T | CA2574903430 | CPT1A | c.555+84C>A (n.555+84C>A) c.651+84C>A (n.651+84C>A) | gnomAD v4 |
11 | g.68803917G>T | CA2614740808 | CPT1A | c.555+83C>A (n.555+83C>A) c.651+83C>A (n.651+83C>A) | gnomAD v4 |
11 | g.68803918T>C | CA223393417 | CPT1A | c.555+82A>G (n.555+82A>G) c.651+82A>G (n.651+82A>G) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.68803918T>G | CA2724218562 | CPT1A | c.555+82A>C (n.555+82A>C) c.651+82A>C (n.651+82A>C) | dbSNP |
11 | g.68803919G>A | CA2614740812 | CPT1A | c.555+81C>T (n.555+81C>T) c.651+81C>T (n.651+81C>T) | gnomAD v4 |
11 | g.68803919G>C | CA939209773 | CPT1A | c.555+81C>G (n.555+81C>G) c.651+81C>G (n.651+81C>G) | dbSNP gnomAD v4 |
11 | g.68803919G>T | CA2614740815 | CPT1A | c.555+81C>A (n.555+81C>A) c.651+81C>A (n.651+81C>A) | gnomAD v4 |
11 | g.68803920A>G | CA939209774 | CPT1A | c.555+80T>C (n.555+80T>C) c.651+80T>C (n.651+80T>C) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.68803921C>G | CA2614740817 | CPT1A | c.555+79G>C (n.555+79G>C) c.651+79G>C (n.651+79G>C) | gnomAD v4 |
11 | g.68803925G>C | CA679636503 | CPT1A | c.555+75C>G (n.555+75C>G) c.651+75C>G (n.651+75C>G) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.68803925G>T | CA2574903431 | CPT1A | c.555+75C>A (n.555+75C>A) c.651+75C>A (n.651+75C>A) | gnomAD v4 |
11 | g.68803926T>C | CA599991977 | CPT1A | c.555+74A>G (n.555+74A>G) c.651+74A>G (n.651+74A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68803927T>C | CA2501695607 | CPT1A | c.555+73A>G (n.555+73A>G) c.651+73A>G (n.651+73A>G) | |
11 | g.68803931_68803933del | CA2614740827 | CPT1A | c.555+71_555+73del (n.555+71_555+73del) c.651+71_651+73del (n.651+71_651+73del) | gnomAD v4 |
11 | g.68803929A>C | CA2574903432 | CPT1A | c.555+71T>G (n.555+71T>G) c.651+71T>G (n.651+71T>G) | |
11 | g.68803930T>A | CA2614740831 | CPT1A | c.555+70A>T (n.555+70A>T) c.651+70A>T (n.651+70A>T) | dbSNP gnomAD v4 |
11 | g.68803930T>C | CA2574903433 | CPT1A | c.555+70A>G (n.555+70A>G) c.651+70A>G (n.651+70A>G) | |
11 | g.68803932A>C | CA2614740833 | CPT1A | c.555+68T>G (n.555+68T>G) c.651+68T>G (n.651+68T>G) | gnomAD v4 |
11 | g.68803932A>G | CA2614740832 | CPT1A | c.555+68T>C (n.555+68T>C) c.651+68T>C (n.651+68T>C) | gnomAD v4 |
11 | g.68803933T>A | CA654348251 | CPT1A | c.555+67A>T (n.555+67A>T) c.651+67A>T (n.651+67A>T) | COSMIC |
11 | g.68803934A>T | CA2574903434 | CPT1A | c.555+66T>A (n.555+66T>A) c.651+66T>A (n.651+66T>A) | |
11 | g.68803935A>G | CA2724292206 | CPT1A | c.555+65T>C (n.555+65T>C) c.651+65T>C (n.651+65T>C) | dbSNP |
11 | g.68803935A>T | CA2614740834 | CPT1A | c.555+65T>A (n.555+65T>A) c.651+65T>A (n.651+65T>A) | gnomAD v4 |
11 | g.68803938A>T | CA2614740835 | CPT1A | c.555+62T>A (n.555+62T>A) c.651+62T>A (n.651+62T>A) | gnomAD v4 |
11 | g.68803941A>G | CA2614740837 | CPT1A | c.555+59T>C (n.555+59T>C) c.651+59T>C (n.651+59T>C) | gnomAD v4 |
11 | g.68803941A>T | CA2614740839 | CPT1A | c.555+59T>A (n.555+59T>A) c.651+59T>A (n.651+59T>A) | gnomAD v4 |
11 | g.68803942C>A | CA913187454 | CPT1A | c.555+58G>T (n.555+58G>T) c.651+58G>T (n.651+58G>T) | |
11 | g.68803943C>G | CA2614740846 | CPT1A | c.555+57G>C (n.555+57G>C) c.651+57G>C (n.651+57G>C) | gnomAD v4 |
11 | g.68803946del | CA2614740850 | CPT1A | c.555+55del (n.555+55del) c.651+55del (n.651+55del) | gnomAD v4 |
11 | g.68803946A>G | CA2614740855 | CPT1A | c.555+54T>C (n.555+54T>C) c.651+54T>C (n.651+54T>C) | gnomAD v4 |
11 | g.68803947G>C | CA679636510 | CPT1A | c.555+53C>G (n.555+53C>G) c.651+53C>G (n.651+53C>G) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.68803947G>T | CA2614740856 | CPT1A | c.555+53C>A (n.555+53C>A) c.651+53C>A (n.651+53C>A) | gnomAD v4 |
11 | g.68803948C>A | CA939209777 | CPT1A | c.555+52G>T (n.555+52G>T) c.651+52G>T (n.651+52G>T) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.68803949C>T | CA2792553639 | CPT1A | c.555+51G>A (n.555+51G>A) c.651+51G>A (n.651+51G>A) | |
11 | g.68803950T>C | CA2574903435 | CPT1A | c.555+50A>G (n.555+50A>G) c.651+50A>G (n.651+50A>G) | dbSNP gnomAD v4 |
11 | g.68803951dup | CA2497319801 | CPT1A | c.555+50dup (n.555+50dup) c.651+50dup (n.651+50dup) | dbSNP gnomAD v4 |
11 | g.68803952_68803962dup | CA939209783 | CPT1A | c.555+39_555+49dup (n.555+39_555+49dup) c.651+39_651+49dup (n.651+39_651+49dup) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.68803954T>C | CA2724292208 | CPT1A | c.555+46A>G (n.555+46A>G) c.651+46A>G (n.651+46A>G) | dbSNP |
11 | g.68803955C>A | CA2574903436 | CPT1A | c.555+45G>T (n.555+45G>T) c.651+45G>T (n.651+45G>T) | |
11 | g.68803955C>T | CA6152626 | CPT1A | c.555+45G>A (n.555+45G>A) c.651+45G>A (n.651+45G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.68803957A>G | CA2614740865 | CPT1A | c.555+43T>C (n.555+43T>C) c.651+43T>C (n.651+43T>C) | gnomAD v4 |
11 | g.68803960G>T | CA2614740868 | CPT1A | c.555+40C>A (n.555+40C>A) c.651+40C>A (n.651+40C>A) | gnomAD v4 |
11 | g.68803962T>C | CA2614740871 | CPT1A | c.555+38A>G (n.555+38A>G) c.651+38A>G (n.651+38A>G) | gnomAD v4 |
11 | g.68803963G>A | CA2614740874 | CPT1A | c.555+37C>T (n.555+37C>T) c.651+37C>T (n.651+37C>T) | gnomAD v4 |
11 | g.68803963G>T | CA2614740873 | CPT1A | c.555+37C>A (n.555+37C>A) c.651+37C>A (n.651+37C>A) | gnomAD v4 |
11 | g.68803964G>T | CA2614740875 | CPT1A | c.555+36C>A (n.555+36C>A) c.651+36C>A (n.651+36C>A) | gnomAD v4 |
11 | g.68803965C>T | CA2614740876 | CPT1A | c.555+35G>A (n.555+35G>A) c.651+35G>A (n.651+35G>A) | gnomAD v4 |
11 | g.68803966T>C | CA2724292209 | CPT1A | c.555+34A>G (n.555+34A>G) c.651+34A>G (n.651+34A>G) | dbSNP |
11 | g.68803968G>A | CA6152627 | CPT1A | c.555+32C>T (n.555+32C>T) c.651+32C>T (n.651+32C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68803968G>T | CA2614740883 | CPT1A | c.555+32C>A (n.555+32C>A) c.651+32C>A (n.651+32C>A) | gnomAD v4 |
11 | g.68803969C>A | CA2614740886 | CPT1A | c.555+31G>T (n.555+31G>T) c.651+31G>T (n.651+31G>T) | gnomAD v4 |
11 | g.68803969C>T | CA2574903437 | CPT1A | c.555+31G>A (n.555+31G>A) c.651+31G>A (n.651+31G>A) | |
11 | g.68803971T>A | CA6152628 | CPT1A | c.555+29A>T (n.555+29A>T) c.651+29A>T (n.651+29A>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.68803974C>T | CA2614740933 | CPT1A | c.555+26G>A (n.555+26G>A) c.651+26G>A (n.651+26G>A) | gnomAD v4 |
11 | g.68803975A>G | CA2614740937 | CPT1A | c.555+25T>C (n.555+25T>C) c.651+25T>C (n.651+25T>C) | gnomAD v4 |
11 | g.68803976G>A | CA2614740939 | CPT1A | c.555+24C>T (n.555+24C>T) c.651+24C>T (n.651+24C>T) | gnomAD v4 |
11 | g.68803976G>T | CA6152629 | CPT1A | c.555+24C>A (n.555+24C>A) c.651+24C>A (n.651+24C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.68803977T>C | CA2614741000 | CPT1A | c.555+23A>G (n.555+23A>G) c.651+23A>G (n.651+23A>G) | gnomAD v4 |
11 | g.68803978G>T | CA2574903438 | CPT1A | c.555+22C>A (n.555+22C>A) c.651+22C>A (n.651+22C>A) | gnomAD v4 |
11 | g.68803980G>T | CA2614741001 | CPT1A | c.555+20C>A (n.555+20C>A) c.651+20C>A (n.651+20C>A) | gnomAD v4 |
11 | g.68803982G>A | CA2614741002 | CPT1A | c.555+18C>T (n.555+18C>T) c.651+18C>T (n.651+18C>T) | gnomAD v4 |
11 | g.68803982G>T | CA2574903439 | CPT1A | c.555+18C>A (n.555+18C>A) c.651+18C>A (n.651+18C>A) | dbSNP gnomAD v4 |
11 | g.68803983G>A | CA2614741004 | CPT1A | c.555+17C>T (n.555+17C>T) c.651+17C>T (n.651+17C>T) | gnomAD v4 |
11 | g.68803983G>T | CA2574903440 | CPT1A | c.555+17C>A (n.555+17C>A) c.651+17C>A (n.651+17C>A) | dbSNP gnomAD v4 |
11 | g.68803984C>T | CA6152630 | CPT1A | c.555+16G>A (n.555+16G>A) c.651+16G>A (n.651+16G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.68803988del | CA2574903441 | CPT1A | c.555+13del (n.555+13del) c.651+13del (n.651+13del) | gnomAD v4 |
11 | g.68803989G>T | CA2614741008 | CPT1A | c.555+11C>A (n.555+11C>A) c.651+11C>A (n.651+11C>A) | gnomAD v4 |
11 | g.68803991C>T | CA2573147547 | CPT1A | c.555+9G>A (n.555+9G>A) c.651+9G>A (n.651+9G>A) | ClinVar dbSNP |
11 | g.68803994_68803995dup | CA2614741013 | CPT1A | c.555+8_555+9dup (n.555+8_555+9dup) c.651+8_651+9dup (n.651+8_651+9dup) | gnomAD v4 |
11 | g.68803993C>T | CA2614741014 | CPT1A | c.555+7G>A (n.555+7G>A) c.651+7G>A (n.651+7G>A) | gnomAD v4 |
11 | g.68803994A>G | CA6152631 | CPT1A | c.555+6T>C (n.555+6T>C) c.651+6T>C (n.651+6T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68803995C>A | CA2574903442 | CPT1A | c.555+5G>T (n.555+5G>T) c.651+5G>T (n.651+5G>T) | |
11 | g.68803995C>G | CA2614741021 | CPT1A | c.555+5G>C (n.555+5G>C) c.651+5G>C (n.651+5G>C) | gnomAD v4 |
11 | g.68803995C>T | CA2614741023 | CPT1A | c.555+5G>A (n.555+5G>A) c.651+5G>A (n.651+5G>A) | gnomAD v4 |
11 | g.68803996C>T | CA2574903443 | CPT1A | c.555+4G>A (n.555+4G>A) c.651+4G>A (n.651+4G>A) | |
11 | g.68803997T>C | CA2614741025 | CPT1A | c.555+3A>G (n.555+3A>G) c.651+3A>G (n.651+3A>G) | gnomAD v4 |
11 | g.68803998del | CA2574903444 | CPT1A | c.555+2del (n.555+2del) c.651+2del (n.651+2del) | |
11 | g.68803998A>C | CA381635935 | CPT1A | c.555+2T>G (n.555+2T>G) c.651+2T>G (n.651+2T>G) | |
11 | g.68803998A>G | CA381635936 | CPT1A | c.555+2T>C (n.555+2T>C) c.651+2T>C (n.651+2T>C) | |
11 | g.68803998A>T | CA381635937 | CPT1A | c.555+2T>A (n.555+2T>A) c.651+2T>A (n.651+2T>A) | |
11 | g.68803999C>A | CA381635938 | CPT1A | c.555+1G>T (n.555+1G>T) c.651+1G>T (n.651+1G>T) | |
11 | g.68803999C>G | CA381635939 | CPT1A | c.555+1G>C (n.555+1G>C) c.651+1G>C (n.651+1G>C) | |
11 | g.68803999C>T | CA381635940 | CPT1A | c.555+1G>A (n.555+1G>A) c.651+1G>A (n.651+1G>A) | |
11 | g.68804000C>A | CA381635941 | CPT1A | c.555G>T (p.Arg185Ser) c.651G>T (p.Arg217Ser) | |
11 | g.68804000C>G | CA381635942 | CPT1A | c.555G>C (p.Arg185Ser) c.651G>C (p.Arg217Ser) | |
11 | g.68804000C>T | CA475205347 | CPT1A | c.555G>A (p.Arg185=) c.651G>A (p.Arg217=) | dbSNP |
11 | g.68804001C>A | CA381635943 | CPT1A | c.554G>T (p.Arg185Met) c.650G>T (p.Arg217Met) | |
11 | g.68804001C>G | CA381635944 | CPT1A | c.554G>C (p.Arg185Thr) c.650G>C (p.Arg217Thr) | |
11 | g.68804001C>T | CA381635945 | CPT1A | c.554G>A (p.Arg185Lys) c.650G>A (p.Arg217Lys) | |
11 | g.68804002T>A | CA381635946 | CPT1A | c.553A>T (p.Arg185Trp) c.649A>T (p.Arg217Trp) | |
11 | g.68804002T>C | CA381635947 | CPT1A | c.553A>G (p.Arg185Gly) c.649A>G (p.Arg217Gly) | dbSNP |
11 | g.68804002T>G | CA475205348 | CPT1A | c.553A>C (p.Arg185=) c.649A>C (p.Arg217=) | ClinVar |
11 | g.68804003G>A | CA475205349 | CPT1A | c.552C>T (p.Asn184=) c.648C>T (p.Asn216=) | gnomAD v4 |
11 | g.68804003G>C | CA381635949 | CPT1A | c.552C>G (p.Asn184Lys) c.648C>G (p.Asn216Lys) | |
11 | g.68804003G>T | CA381635948 | CPT1A | c.552C>A (p.Asn184Lys) c.648C>A (p.Asn216Lys) | |
11 | g.68804004T>A | CA381635950 | CPT1A | c.551A>T (p.Asn184Ile) c.647A>T (p.Asn216Ile) | |
11 | g.68804004T>C | CA381635951 | CPT1A | c.551A>G (p.Asn184Ser) c.647A>G (p.Asn216Ser) | |
11 | g.68804004T>G | CA381635952 | CPT1A | c.551A>C (p.Asn184Thr) c.647A>C (p.Asn216Thr) | |
11 | g.68804005T>A | CA381635953 | CPT1A | c.550A>T (p.Asn184Tyr) c.646A>T (p.Asn216Tyr) | |
11 | g.68804005T>C | CA381635954 | CPT1A | c.550A>G (p.Asn184Asp) c.646A>G (p.Asn216Asp) | |
11 | g.68804005T>G | CA381635955 | CPT1A | c.550A>C (p.Asn184His) c.646A>C (p.Asn216His) | |
11 | g.68804006C>A | CA475205351 | CPT1A | c.549G>T (p.Val183=) c.645G>T (p.Val215=) | |
11 | g.68804006C>G | CA475205350 | CPT1A | c.549G>C (p.Val183=) c.645G>C (p.Val215=) | |
11 | g.68804006C>T | CA475205352 | CPT1A | c.549G>A (p.Val183=) c.645G>A (p.Val215=) | |
11 | g.68804008_68804009del | CA10603989 | CPT1A | c.548_549del (p.Val183GlufsTer?) c.644_645del (p.Val215GlufsTer?) | ClinVar dbSNP |
11 | g.68804007A>C | CA381635956 | CPT1A | c.548T>G (p.Val183Gly) c.644T>G (p.Val215Gly) | |
11 | g.68804007A>G | CA381635957 | CPT1A | c.548T>C (p.Val183Ala) c.644T>C (p.Val215Ala) | |
11 | g.68804007A>T | CA381635958 | CPT1A | c.548T>A (p.Val183Glu) c.644T>A (p.Val215Glu) | |
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 |