| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.68775232_68775315del | CA223371670 | CPT1A | c.1575+1_1575+84del (n.1575+1_1575+84del) c.1671+1_1671+84del (n.1671+1_1671+84del) | dbSNP |
| 11 | g.68775299G>A | CA599988228 | CPT1A | c.1575+17C>T (n.1575+17C>T) c.1671+17C>T (n.1671+17C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.68775299G>T | CA2574903170 | CPT1A | c.1575+17C>A (n.1575+17C>A) c.1671+17C>A (n.1671+17C>A) | gnomAD v4 |
| 11 | g.68775300G>A | CA2614734337 | CPT1A | c.1575+16C>T (n.1575+16C>T) c.1671+16C>T (n.1671+16C>T) | gnomAD v4 |
| 11 | g.68775300G>T | CA2614734338 | CPT1A | c.1575+16C>A (n.1575+16C>A) c.1671+16C>A (n.1671+16C>A) | ClinVar gnomAD v4 |
| 11 | g.68775302T>C | CA2697548764 | CPT1A | c.1575+14A>G (n.1575+14A>G) c.1671+14A>G (n.1671+14A>G) | ClinVar |
| 11 | g.68775303A>T | CA6152268 | CPT1A | c.1575+13T>A (n.1575+13T>A) c.1671+13T>A (n.1671+13T>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.68775304A>G | CA599988230 | CPT1A | c.1575+12T>C (n.1575+12T>C) c.1671+12T>C (n.1671+12T>C) | dbSNP gnomAD v2 |
| 11 | g.68775306C>T | CA2499221270 | CPT1A | c.1575+10G>A (n.1575+10G>A) c.1671+10G>A (n.1671+10G>A) | ClinVar dbSNP |
| 11 | g.68775307C>G | CA2614734339 | CPT1A | c.1575+9G>C (n.1575+9G>C) c.1671+9G>C (n.1671+9G>C) | gnomAD v4 |
| 11 | g.68775307C>T | CA6152269 | CPT1A | c.1575+9G>A (n.1575+9G>A) c.1671+9G>A (n.1671+9G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 11 | g.68775308G>A | CA6152270 | CPT1A | c.1575+8C>T (n.1575+8C>T) c.1671+8C>T (n.1671+8C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68775308G>T | CA2614734340 | CPT1A | c.1575+8C>A (n.1575+8C>A) c.1671+8C>A (n.1671+8C>A) | dbSNP gnomAD v4 |
| 11 | g.68775309G>T | CA2614734341 | CPT1A | c.1575+7C>A (n.1575+7C>A) c.1671+7C>A (n.1671+7C>A) | gnomAD v4 |
| 11 | g.68775310A>T | CA2614734342 | CPT1A | c.1575+6T>A (n.1575+6T>A) c.1671+6T>A (n.1671+6T>A) | gnomAD v4 |
| 11 | g.68775311C>T | CA2724277199 | CPT1A | c.1575+5G>A (n.1575+5G>A) c.1671+5G>A (n.1671+5G>A) | dbSNP |
| 11 | g.68775314A>C | CA381629685 | CPT1A | c.1575+2T>G (n.1575+2T>G) c.1671+2T>G (n.1671+2T>G) | gnomAD v4 |
| 11 | g.68775314A>G | CA381629686 | CPT1A | c.1575+2T>C (n.1575+2T>C) c.1671+2T>C (n.1671+2T>C) | |
| 11 | g.68775314A>T | CA381629687 | CPT1A | c.1575+2T>A (n.1575+2T>A) c.1671+2T>A (n.1671+2T>A) | |
| 11 | g.68775315C>A | CA381629688 | CPT1A | c.1575+1G>T (n.1575+1G>T) c.1671+1G>T (n.1671+1G>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68775315C>G | CA381629689 | CPT1A | c.1575+1G>C (n.1575+1G>C) c.1671+1G>C (n.1671+1G>C) | |
| 11 | g.68775315C>T | CA381629690 | CPT1A | c.1575+1G>A (n.1575+1G>A) c.1671+1G>A (n.1671+1G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.68775316T>A | CA381629691 | CPT1A | c.1575A>T (p.Glu525Asp) c.1671A>T (p.Glu557Asp) | dbSNP |
| 11 | g.68775316T>C | CA475189182 | CPT1A | c.1575A>G (p.Glu525=) c.1671A>G (p.Glu557=) | ClinVar |
| 11 | g.68775316T>G | CA381629692 | CPT1A | c.1575A>C (p.Glu525Asp) c.1671A>C (p.Glu557Asp) | |
| 11 | g.68775317T>A | CA381629693 | CPT1A | c.1574A>T (p.Glu525Val) c.1670A>T (p.Glu557Val) | |
| 11 | g.68775317T>C | CA381629694 | CPT1A | c.1574A>G (p.Glu525Gly) c.1670A>G (p.Glu557Gly) | |
| 11 | g.68775317T>G | CA381629695 | CPT1A | c.1574A>C (p.Glu525Ala) c.1670A>C (p.Glu557Ala) | |
| 11 | g.68775318C>A | CA381629696 | CPT1A | c.1573G>T (p.Glu525Ter) c.1669G>T (p.Glu557Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.68775318C>G | CA381629697 | CPT1A | c.1573G>C (p.Glu525Gln) c.1669G>C (p.Glu557Gln) | |
| 11 | g.68775318C>T | CA381629698 | CPT1A | c.1573G>A (p.Glu525Lys) c.1669G>A (p.Glu557Lys) | gnomAD v4 COSMIC COSMIC |
| 11 | g.68775322dup | CA2573147545 | CPT1A | c.1573dup (p.Glu525GlyfsTer?) c.1669dup (p.Glu557GlyfsTer?) | ClinVar dbSNP gnomAD v4 |
| 11 | g.68775322del | CA2497319596 | CPT1A | c.1573del (p.Glu525AsnfsTer6) c.1669del (p.Glu557AsnfsTer6) | dbSNP gnomAD v4 |
| 11 | g.68775319C>A | CA475189205 | CPT1A | c.1572G>T (p.Gly524=) c.1668G>T (p.Gly556=) | |
| 11 | g.68775319C>G | CA475189212 | CPT1A | c.1572G>C (p.Gly524=) c.1668G>C (p.Gly556=) | |
| 11 | g.68775319C>T | CA475189214 | CPT1A | c.1572G>A (p.Gly524=) c.1668G>A (p.Gly556=) | |
| 11 | g.68775320C>A | CA381629700 | CPT1A | c.1571G>T (p.Gly524Val) c.1667G>T (p.Gly556Val) | |
| 11 | g.68775320C>G | CA381629699 | CPT1A | c.1571G>C (p.Gly524Ala) c.1667G>C (p.Gly556Ala) | |
| 11 | g.68775320C>T | CA6152271 | CPT1A | c.1571G>A (p.Gly524Glu) c.1667G>A (p.Gly556Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.68775321C>A | CA381629701 | CPT1A | c.1570G>T (p.Gly524Trp) c.1666G>T (p.Gly556Trp) | |
| 11 | g.68775321C>G | CA223371731 | CPT1A | c.1570G>C (p.Gly524Arg) c.1666G>C (p.Gly556Arg) | dbSNP |
| 11 | g.68775321C>T | CA6152272 | CPT1A | c.1570G>A (p.Gly524Arg) c.1666G>A (p.Gly556Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68775322C>A | CA475189228 | CPT1A | c.1569G>T (p.Pro523=) c.1665G>T (p.Pro555=) | |
| 11 | g.68775322C>G | CA223371735 | CPT1A | c.1569G>C (p.Pro523=) c.1665G>C (p.Pro555=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.68775322C>T | CA6152273 | CPT1A | c.1569G>A (p.Pro523=) c.1665G>A (p.Pro555=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 11 | g.68775323G>A | CA6152274 | CPT1A | c.1568C>T (p.Pro523Leu) c.1664C>T (p.Pro555Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 11 | g.68775323G>C | CA6152275 | CPT1A | c.1568C>G (p.Pro523Arg) c.1664C>G (p.Pro555Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68775323G>T | CA381629702 | CPT1A | c.1568C>A (p.Pro523Gln) c.1664C>A (p.Pro555Gln) | |
| 11 | g.68775324G>A | CA381629703 | CPT1A | c.1567C>T (p.Pro523Ser) c.1663C>T (p.Pro555Ser) | COSMIC COSMIC |
| 11 | g.68775324G>C | CA381629704 | CPT1A | c.1567C>G (p.Pro523Ala) c.1663C>G (p.Pro555Ala) | ClinVar dbSNP gnomAD v4 |