1 |
ACADM
|
NM_000016.5(ACADM): c.157C> T (p.Arg53Cys)
|
single nucleotide variant |
Pathogenic/Likely pathogenic |
rs398123072
|
GRCh37 |
Chromosome 1, 76198367: 76198367 |
2 |
ACADM
|
NM_000016.5(ACADM): c.216+2T> G
|
single nucleotide variant |
Pathogenic |
rs398123073
|
GRCh37 |
Chromosome 1, 76198428: 76198428 |
3 |
ACADM
|
NM_000016.5(ACADM): c.233T> C (p.Ile78Thr)
|
single nucleotide variant |
Pathogenic |
rs398123074
|
GRCh37 |
Chromosome 1, 76198554: 76198554 |
4 |
ACADM
|
NM_000016.5(ACADM): c.616C> T (p.Arg206Cys)
|
single nucleotide variant |
Pathogenic/Likely pathogenic |
rs373715782
|
GRCh37 |
Chromosome 1, 76211507: 76211507 |
5 |
ACADM
|
NM_000016.5(ACADM): c.617G> A (p.Arg206His)
|
single nucleotide variant |
Pathogenic |
rs200724875
|
GRCh37 |
Chromosome 1, 76211508: 76211508 |
6 |
ACADM
|
NM_000016.5(ACADM): c.244dupT (p.Trp82Leufs)
|
duplication |
Pathogenic/Likely pathogenic |
rs786204566
|
GRCh37 |
Chromosome 1, 76198565: 76198565 |
7 |
ACADM
|
NM_000016.5(ACADM): c.449_452delCTGA (p.Thr150Argfs)
|
deletion |
Pathogenic/Likely pathogenic |
rs786204642
|
GRCh37 |
Chromosome 1, 76200537: 76200540 |
8 |
ACADM
|
NM_000016.5(ACADM): c.1045C> T (p.Arg349Ter)
|
single nucleotide variant |
Pathogenic/Likely pathogenic |
rs148207467
|
GRCh37 |
Chromosome 1, 76226906: 76226906 |
9 |
ACADM
|
NM_000016.5(ACADM): c.287-1G> C
|
single nucleotide variant |
Pathogenic |
rs794727694
|
GRCh37 |
Chromosome 1, 76199212: 76199212 |
10 |
ACADM
|
NM_001127328.2(ACADM): c.997A> G (p.Lys333Glu)
|
single nucleotide variant |
Pathogenic |
rs77931234
|
GRCh37 |
Chromosome 1, 76226846: 76226846 |
11 |
ACADM
|
NM_000016.5(ACADM): c.999_1011dupTAGAATGAGTTAC (p.Gln338Terfs)
|
duplication |
Pathogenic/Likely pathogenic |
rs786204522
|
GRCh37 |
Chromosome 1, 76226860: 76226872 |
12 |
ACADM
|
NM_000016.5(ACADM): c.799G> A (p.Gly267Arg)
|
single nucleotide variant |
Pathogenic/Likely pathogenic |
rs121434274
|
GRCh37 |
Chromosome 1, 76215194: 76215194 |
13 |
ACADM
|
NM_000016.5(ACADM): c.1124T> C (p.Ile375Thr)
|
single nucleotide variant |
Pathogenic |
rs121434275
|
GRCh37 |
Chromosome 1, 76226985: 76226985 |
14 |
ACADM
|
NM_000016.5(ACADM): c.730T> C (p.Cys244Arg)
|
single nucleotide variant |
Pathogenic |
rs121434276
|
GRCh37 |
Chromosome 1, 76215125: 76215125 |
15 |
ACADM
|
NM_000016.5(ACADM): c.447G> A (p.Met149Ile)
|
single nucleotide variant |
Pathogenic |
rs121434277
|
GRCh37 |
Chromosome 1, 76200535: 76200535 |
16 |
ACADM
|
NM_000016.5(ACADM): c.1102_1105delTTAG (p.Ala369Leufs)
|
deletion |
Pathogenic |
rs387906297
|
GRCh37 |
Chromosome 1, 76226963: 76226966 |
17 |
ACADM
|
NM_000016.5(ACADM): c.343_348delGGATGT (p.Gly115_Cys116del)
|
deletion |
Pathogenic |
rs864621963
|
GRCh38 |
Chromosome 1, 75733584: 75733589 |
18 |
ACADM
|
NM_000016.5(ACADM): c.583G> A (p.Gly195Arg)
|
single nucleotide variant |
Pathogenic/Likely pathogenic |
rs121434278
|
GRCh37 |
Chromosome 1, 76205779: 76205779 |
19 |
ACADM
|
NM_000016.5(ACADM): c.577A> G (p.Thr193Ala)
|
single nucleotide variant |
Pathogenic |
rs121434279
|
GRCh37 |
Chromosome 1, 76205773: 76205773 |
20 |
ACADM
|
NM_000016.5(ACADM): c.842G> C (p.Arg281Thr)
|
single nucleotide variant |
Pathogenic |
rs121434282
|
GRCh37 |
Chromosome 1, 76215237: 76215237 |
21 |
ACADM
|
NM_000016.5(ACADM): c.199T> C (p.Tyr67His)
|
single nucleotide variant |
Pathogenic |
rs121434280
|
GRCh37 |
Chromosome 1, 76198409: 76198409 |
22 |
ACADM
|
NM_000016.5(ACADM): c.734C> T (p.Ser245Leu)
|
single nucleotide variant |
Pathogenic/Likely pathogenic |
rs121434281
|
GRCh37 |
Chromosome 1, 76215129: 76215129 |
23 |
ACADM
|
NM_000016.5(ACADM): c.362C> T (p.Thr121Ile)
|
single nucleotide variant |
Pathogenic |
rs121434283
|
GRCh37 |
Chromosome 1, 76199288: 76199288 |
24 |
ACADM
|
NM_000016.5(ACADM): c.426delG (p.Lys143Argfs)
|
deletion |
Pathogenic |
rs777998984
|
GRCh37 |
Chromosome 1, 76200514: 76200514 |
25 |
ACADM
|
NM_000016.5(ACADM): c.-6_6delGCCAACATGGCAinsACCCCGAAGG
|
indel |
Pathogenic |
rs875989865
|
GRCh37 |
Chromosome 1, 76190467: 76190478 |
26 |
ACADM
|
NM_000016.5(ACADM): c.107_113dupGATTTAG (p.Ser38Argfs)
|
duplication |
Pathogenic/Likely pathogenic |
rs875989875
|
GRCh37 |
Chromosome 1, 76194162: 76194168 |
27 |
ACADM
|
NM_000016.5(ACADM): c.250C> T (p.Leu84Phe)
|
single nucleotide variant |
Pathogenic/Likely pathogenic |
rs762114560
|
GRCh37 |
Chromosome 1, 76198571: 76198571 |
28 |
ACADM
|
NM_000016.5(ACADM): c.322_325delATTA (p.Ile108Valfs)
|
deletion |
Pathogenic |
rs875989873
|
GRCh37 |
Chromosome 1, 76199248: 76199251 |
29 |
ACADM
|
NM_000016.5(ACADM): c.347G> A (p.Cys116Tyr)
|
single nucleotide variant |
Pathogenic |
rs875989859
|
GRCh38 |
Chromosome 1, 75733588: 75733588 |
30 |
ACADM
|
NM_000016.5(ACADM): c.447G> T (p.Met149Ile)
|
single nucleotide variant |
Pathogenic |
rs121434277
|
GRCh38 |
Chromosome 1, 75734850: 75734850 |
31 |
ACADM
|
NM_000016.5(ACADM): c.464T> C (p.Met155Thr)
|
single nucleotide variant |
Pathogenic |
rs875989876
|
GRCh38 |
Chromosome 1, 75734867: 75734867 |
32 |
ACADM
|
NM_000016.5(ACADM): c.469-1G> A
|
single nucleotide variant |
Pathogenic |
rs875989869
|
GRCh37 |
Chromosome 1, 76205664: 76205664 |
33 |
ACADM
|
NM_000016.5(ACADM): c.600-18G> A
|
single nucleotide variant |
Pathogenic/Likely pathogenic |
rs370523609
|
GRCh37 |
Chromosome 1, 76211473: 76211473 |
34 |
ACADM
|
NM_000016.5(ACADM): c.609A> C (p.Leu203Phe)
|
single nucleotide variant |
Pathogenic |
rs751829413
|
GRCh37 |
Chromosome 1, 76211500: 76211500 |
35 |
ACADM
|
NM_000016.5(ACADM): c.742A> G (p.Arg248Gly)
|
single nucleotide variant |
Pathogenic |
rs875989867
|
GRCh37 |
Chromosome 1, 76215137: 76215137 |
36 |
ACADM
|
NM_000016.5(ACADM): c.817_829delGCAATGGGAGCTT (p.Ala273Leufs)
|
deletion |
Pathogenic/Likely pathogenic |
rs875989872
|
GRCh38 |
Chromosome 1, 75749527: 75749539 |
37 |
ACADM
|
NM_000016.5(ACADM): c.881G> C (p.Arg294Thr)
|
single nucleotide variant |
Pathogenic/Likely pathogenic |
rs779759347
|
GRCh37 |
Chromosome 1, 76216167: 76216167 |
38 |
ACADM
|
NM_000016.5(ACADM): c.926dupT (p.Gly310Argfs)
|
duplication |
Pathogenic/Likely pathogenic |
rs875989864
|
GRCh38 |
Chromosome 1, 75750527: 75750527 |
39 |
ACADM
|
NM_000016.5(ACADM): c.984delG (p.Met328Ilefs)
|
deletion |
Pathogenic |
rs747610156
|
GRCh37 |
Chromosome 1, 76226845: 76226845 |
40 |
ACADM
|
NM_000016.5(ACADM): c.985A> C (p.Lys329Gln)
|
single nucleotide variant |
Pathogenic |
rs77931234
|
GRCh37 |
Chromosome 1, 76226846: 76226846 |
41 |
ACADM
|
NM_000016.5(ACADM): c.1012C> T (p.Gln338Ter)
|
single nucleotide variant |
Pathogenic |
rs796051896
|
GRCh37 |
Chromosome 1, 76226873: 76226873 |
42 |
ACADM
|
NM_000016.5(ACADM): c.1012_1013insTAGAATGAGTTAC (p.Gln338Leufs)
|
insertion |
Pathogenic |
rs875989874
|
GRCh38 |
Chromosome 1, 75761188: 75761189 |
43 |
ACADM
|
NM_000016.5(ACADM): c.1189dupT (p.Tyr397Leufs)
|
duplication |
Pathogenic |
rs875989877
|
GRCh38 |
Chromosome 1, 75761365: 75761365 |
44 |
ACADM
|
NM_000016.5(ACADM): c.1221_1222delAA (p.Arg408Thrfs)
|
deletion |
Pathogenic |
rs875989860
|
GRCh38 |
Chromosome 1, 75762718: 75762719 |
45 |
ACADM
|
NM_000016.5(ACADM): c.387+1G> A
|
single nucleotide variant |
Pathogenic |
rs1057516983
|
GRCh37 |
Chromosome 1, 76199314: 76199314 |
46 |
ACADM
|
NM_000016.5(ACADM): c.431_434delAGTA (p.Lys144Ilefs)
|
deletion |
Pathogenic |
rs1057517356
|
GRCh37 |
Chromosome 1, 76200519: 76200522 |
47 |
ACADM
|
NM_000016.5(ACADM): c.287-2A> G
|
single nucleotide variant |
Pathogenic |
rs1057518677
|
GRCh37 |
Chromosome 1, 76199211: 76199211 |
48 |
ACADM
|
NM_000016.5(ACADM): c.989_1010del22 (p.Val330Alafs)
|
deletion |
Pathogenic |
|
GRCh37 |
Chromosome 1, 76226850: 76226871 |
49 |
ACADM
|
NM_000016.5(ACADM): c.425delA (p.Lys142Argfs)
|
deletion |
Pathogenic |
|
GRCh37 |
Chromosome 1, 76200513: 76200513 |