Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.123054027C>A | CA2580970080 | ACADSB | c.*262C>A (n.*262C>A) | |
10 | g.123054027C= | CA1630848533 | ACADSB | c.*262C= (n.*262C=) | |
10 | g.123054027C>G | CA2580970079 | ACADSB | c.*262C>G (n.*262C>G) | |
10 | g.123054027C>T | CA10634862 | ACADSB | c.*262C>T (n.*262C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.123054028G>A | CA215173250 | ACADSB | c.*263G>A (n.*263G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.123054028G= | CA1941714542 | ACADSB | c.*263G= (n.*263G=) | |
10 | g.123054028G>T | CA2611280026 | ACADSB | c.*263G>T (n.*263G>T) | gnomAD v4 |
10 | g.123054029C>A | CA2611280027 | ACADSB | c.*264C>A (n.*264C>A) | gnomAD v4 |
10 | g.123054029C= | CA1941714545 | ACADSB | c.*264C= (n.*264C=) | |
10 | g.123054029C>T | CA1941714546 | ACADSB | c.*264C>T (n.*264C>T) | dbSNP gnomAD v4 |
10 | g.123054030A>G | CA2611280029 | ACADSB | c.*265A>G (n.*265A>G) | gnomAD v4 |
10 | g.123054030A>T | CA2611280028 | ACADSB | c.*265A>T (n.*265A>T) | gnomAD v4 |
10 | g.123054031T>A | CA2611280030 | ACADSB | c.*266T>A (n.*266T>A) | gnomAD v4 |
10 | g.123054031T>G | CA2611280031 | ACADSB | c.*266T>G (n.*266T>G) | gnomAD v4 |
10 | g.123054032A>T | CA2611280032 | ACADSB | c.*267A>T (n.*267A>T) | gnomAD v4 |
10 | g.123054033C>A | CA2611280033 | ACADSB | c.*268C>A (n.*268C>A) | gnomAD v4 |
10 | g.123054033C= | CA1941714547 | ACADSB | c.*268C= (n.*268C=) | |
10 | g.123054033C>G | CA2611280034 | ACADSB | c.*268C>G (n.*268C>G) | gnomAD v4 |
10 | g.123054034A= | CA1941714551 | ACADSB | c.*269A= (n.*269A=) | |
10 | g.123054034A>G | CA215173256 | ACADSB | c.*269A>G (n.*269A>G) | dbSNP gnomAD v4 |
10 | g.123054034A>T | CA2611280037 | ACADSB | c.*269A>T (n.*269A>T) | gnomAD v4 |
10 | g.123054042_123054043dup | CA215173254 | ACADSB | c.*277_*278dup (n.*277_*278dup) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.123054040_123054043dup | CA2611280035 | ACADSB | c.*275_*278dup (n.*275_*278dup) | gnomAD v4 |
10 | g.123054042_123054043del | CA2611280036 | ACADSB | c.*277_*278del (n.*277_*278del) | dbSNP gnomAD v4 |
10 | g.123054035T>C | CA2611280038 | ACADSB | c.*270T>C (n.*270T>C) | gnomAD v4 |
10 | g.123054035T>G | CA2611280039 | ACADSB | c.*270T>G (n.*270T>G) | gnomAD v4 |
10 | g.123054036A= | CA1941714555 | ACADSB | c.*271A= (n.*271A=) | |
10 | g.123054036A>C | CA2611280041 | ACADSB | c.*271A>C (n.*271A>C) | gnomAD v4 |
10 | g.123054036A>G | CA215173262 | ACADSB | c.*271A>G (n.*271A>G) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.123054036A>T | CA2611280040 | ACADSB | c.*271A>T (n.*271A>T) | gnomAD v4 |
10 | g.123054037T>C | CA2611280042 | ACADSB | c.*272T>C (n.*272T>C) | gnomAD v4 |
10 | g.123054037T>G | CA2611280043 | ACADSB | c.*272T>G (n.*272T>G) | gnomAD v4 |
10 | g.123054038A= | CA1941714559 | ACADSB | c.*273A= (n.*273A=) | |
10 | g.123054038A>G | CA933367999 | ACADSB | c.*273A>G (n.*273A>G) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.123054038A>T | CA2611280044 | ACADSB | c.*273A>T (n.*273A>T) | gnomAD v4 |
10 | g.123054039del | CA2611280045 | ACADSB | c.*274del (n.*274del) | gnomAD v4 |
10 | g.123054039T>A | CA660967745 | ACADSB | c.*274T>A (n.*274T>A) | dbSNP gnomAD v4 |
10 | g.123054039T>C | CA660967744 | ACADSB | c.*274T>C (n.*274T>C) | dbSNP |
10 | g.123054039T= | CA1941714562 | ACADSB | c.*274T= (n.*274T=) | |
10 | g.123054040A= | CA1941714565 | ACADSB | c.*275A= (n.*275A=) | |
10 | g.123054040A>G | CA215173269 | ACADSB | c.*275A>G (n.*275A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.123054040A>T | CA1941714566 | ACADSB | c.*275A>T (n.*275A>T) | dbSNP |
10 | g.123054041T>C | CA596396376 | ACADSB | c.*276T>C (n.*276T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.123054041T= | CA1941714568 | ACADSB | c.*276T= (n.*276T=) | |
10 | g.123054042A= | CA1941714572 | ACADSB | c.*277A= (n.*277A=) | |
10 | g.123054042A>C | CA2611280046 | ACADSB | c.*277A>C (n.*277A>C) | gnomAD v4 |
10 | g.123054042A>G | CA1941714574 | ACADSB | c.*277A>G (n.*277A>G) | dbSNP gnomAD v4 |
10 | g.123054042A>T | CA10631119 | ACADSB | c.*277A>T (n.*277A>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.123054043T>G | CA2611280048 | ACADSB | c.*278T>G (n.*278T>G) | gnomAD v4 |
10 | g.123054047del | CA2611280047 | ACADSB | c.*282del (n.*282del) | gnomAD v4 |