Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.68803924A>G | CA2842790215 | CPT1A | c.555+76T>C (n.555+76T>C) c.651+76T>C (n.651+76T>C) | |
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>A | CA2839456365 | CPT1A | c.555+35G>T (n.555+35G>T) c.651+35G>T (n.651+35G>T) | |
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>A | CA2842790216 | CPT1A | c.555+26G>T (n.555+26G>T) c.651+26G>T (n.651+26G>T) | |
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.68803979T>C | CA2842790217 | CPT1A | c.555+21A>G (n.555+21A>G) c.651+21A>G (n.651+21A>G) | |
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 |
11 | g.68804011T>A | CA381635965 | CPT1A | c.544A>T (p.Thr182Ser) c.640A>T (p.Thr214Ser) | |
11 | g.68804011T>C | CA381635967 | CPT1A | c.544A>G (p.Thr182Ala) c.640A>G (p.Thr214Ala) | |
11 | g.68804011T>G | CA381635966 | CPT1A | c.544A>C (p.Thr182Pro) c.640A>C (p.Thr214Pro) | |
11 | g.68804012G>A | CA475205357 | CPT1A | c.543C>T (p.Asp181=) c.639C>T (p.Asp213=) | |
11 | g.68804012G>C | CA381635968 | CPT1A | c.543C>G (p.Asp181Glu) c.639C>G (p.Asp213Glu) | |
11 | g.68804012G>T | CA381635969 | CPT1A | c.543C>A (p.Asp181Glu) c.639C>A (p.Asp213Glu) | |
11 | g.68804013T>A | CA381635970 | CPT1A | c.542A>T (p.Asp181Val) c.638A>T (p.Asp213Val) | |
11 | g.68804013T>C | CA381635971 | CPT1A | c.542A>G (p.Asp181Gly) c.638A>G (p.Asp213Gly) | |
11 | g.68804013T>G | CA381635972 | CPT1A | c.542A>C (p.Asp181Ala) c.638A>C (p.Asp213Ala) | |
11 | g.68804014C>A | CA381635973 | CPT1A | c.541G>T (p.Asp181Tyr) c.637G>T (p.Asp213Tyr) | |
11 | g.68804014C>G | CA381635974 | CPT1A | c.541G>C (p.Asp181His) c.637G>C (p.Asp213His) | dbSNP |
11 | g.68804014C>T | CA381635975 | CPT1A | c.541G>A (p.Asp181Asn) c.637G>A (p.Asp213Asn) | gnomAD v4 |
11 | g.68804015T>A | CA381635976 | CPT1A | c.540A>T (p.Lys180Asn) c.636A>T (p.Lys212Asn) | |
11 | g.68804015T>C | CA475205358 | CPT1A | c.540A>G (p.Lys180=) c.636A>G (p.Lys212=) | |
11 | g.68804015T>G | CA381635977 | CPT1A | c.540A>C (p.Lys180Asn) c.636A>C (p.Lys212Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68804016_68804017del | CA599991978 | CPT1A | c.539_540del (p.Lys180ArgfsTer?) c.635_636del (p.Lys212ArgfsTer?) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.68804016T>A | CA381635980 | CPT1A | c.539A>T (p.Lys180Ile) c.635A>T (p.Lys212Ile) | |
11 | g.68804016T>C | CA381635979 | CPT1A | c.539A>G (p.Lys180Arg) c.635A>G (p.Lys212Arg) | |
11 | g.68804016T>G | CA381635978 | CPT1A | c.539A>C (p.Lys180Thr) c.635A>C (p.Lys212Thr) | |
11 | g.68804017T>A | CA381635981 | CPT1A | c.538A>T (p.Lys180Ter) c.634A>T (p.Lys212Ter) | |
11 | g.68804017T>C | CA381635982 | CPT1A | c.538A>G (p.Lys180Glu) c.634A>G (p.Lys212Glu) | |
11 | g.68804017T>G | CA381635983 | CPT1A | c.538A>C (p.Lys180Gln) c.634A>C (p.Lys212Gln) | |
11 | g.68804018G>A | CA475205359 | CPT1A | c.537C>T (p.Val179=) c.633C>T (p.Val211=) | |
11 | g.68804018G>C | CA475205360 | CPT1A | c.537C>G (p.Val179=) c.633C>G (p.Val211=) | COSMIC COSMIC |
11 | g.68804018G>T | CA475205361 | CPT1A | c.537C>A (p.Val179=) c.633C>A (p.Val211=) | |
11 | g.68804019A>C | CA381635984 | CPT1A | c.536T>G (p.Val179Gly) c.632T>G (p.Val211Gly) | |
11 | g.68804019A>G | CA381635985 | CPT1A | c.536T>C (p.Val179Ala) c.632T>C (p.Val211Ala) | gnomAD v4 |
11 | g.68804019A>T | CA381635986 | CPT1A | c.536T>A (p.Val179Asp) c.632T>A (p.Val211Asp) | |
11 | g.68804020C>A | CA381635987 | CPT1A | c.535G>T (p.Val179Phe) c.631G>T (p.Val211Phe) | |
11 | g.68804020C>G | CA381635988 | CPT1A | c.535G>C (p.Val179Leu) c.631G>C (p.Val211Leu) | |
11 | g.68804020C>T | CA6152632 | CPT1A | c.535G>A (p.Val179Ile) c.631G>A (p.Val211Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68804021A>C | CA475205362 | CPT1A | c.534T>G (p.Ala178=) c.630T>G (p.Ala210=) | |
11 | g.68804021A>G | CA475205363 | CPT1A | c.534T>C (p.Ala178=) c.630T>C (p.Ala210=) | ClinVar dbSNP gnomAD v4 |
11 | g.68804021A>T | CA475205364 | CPT1A | c.534T>A (p.Ala178=) c.630T>A (p.Ala210=) | |
11 | g.68804022G>A | CA381635989 | CPT1A | c.533C>T (p.Ala178Val) c.629C>T (p.Ala210Val) | gnomAD v4 |
11 | g.68804022G>C | CA381635990 | CPT1A | c.533C>G (p.Ala178Gly) c.629C>G (p.Ala210Gly) | |
11 | g.68804022G>T | CA381635991 | CPT1A | c.533C>A (p.Ala178Asp) c.629C>A (p.Ala210Asp) | |
11 | g.68804023C>A | CA381635993 | CPT1A | c.532G>T (p.Ala178Ser) c.628G>T (p.Ala210Ser) | |
11 | g.68804023C>G | CA381635994 | CPT1A | c.532G>C (p.Ala178Pro) c.628G>C (p.Ala210Pro) | |
11 | g.68804023C>T | CA381635992 | CPT1A | c.532G>A (p.Ala178Thr) c.628G>A (p.Ala210Thr) | |
11 | g.68804024C>A | CA475205367 | CPT1A | c.531G>T (p.Pro177=) c.627G>T (p.Pro209=) | ClinVar |
11 | g.68804024C>G | CA475205370 | CPT1A | c.531G>C (p.Pro177=) c.627G>C (p.Pro209=) | |
11 | g.68804024C>T | CA6152633 | CPT1A | c.531G>A (p.Pro177=) c.627G>A (p.Pro209=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |