| Genename | Variants |
|---|---|
| PDP2(NM_020786,pyruvate dehyrogenase phosphatase catalytic subunit 2,529aa) | g.16:66919604C>T,c.1417C>T,p.R473W |
| PDP2(NM_020786,pyruvate dehyrogenase phosphatase catalytic subunit 2,529aa) | g.16:66919269G>A,c.1082G>A,p.R361H |
| PDP1(NM_001161779,pyruvate dehyrogenase phosphatase catalytic subunit 1,562aa) | g.8:94934441T>C,c.229T>C,p.Y77H |
| PDLIM7(NM_005451,PDZ and LIM domain 7 (enigma),457aa) | g.5:176919656G>A,c.119C>T,p.A40V |
| PDLIM7(NM_005451,PDZ and LIM domain 7 (enigma),457aa) | g.5:176919555C>G,c.220G>C,p.G74R |
| PDLIM7(NM_005451,PDZ and LIM domain 7 (enigma),457aa) | g.5:176919549G>T,c.226C>A,p.R76S |
| PDLIM7(NM_005451,PDZ and LIM domain 7 (enigma),457aa) | g.5:176915220G>A,c.899C>T,p.A300V |
| PDLIM7(NM_005451,PDZ and LIM domain 7 (enigma),457aa) | g.5:176915143C>T,c.976G>A,p.A326T |
| PDLIM7(NM_005451,PDZ and LIM domain 7 (enigma),457aa) | g.5:176911119G>A,c.1123C>T,p.R375W |
| PDLIM7(NM_005451,PDZ and LIM domain 7 (enigma),457aa) | g.5:176910869G>A,c.1286C>T,p.A429V |
| PDLIM5(NM_001256426,PDZ and LIM domain 5,625aa) | g.4:95585202A>G,c.1862A>G,p.H621R |
| PDLIM5(NM_001256426,PDZ and LIM domain 5,625aa) | g.4:95583657A>G,c.1757A>G,p.Y586C |
| PDLIM5(NM_001256426,PDZ and LIM domain 5,625aa) | g.4:95578588G>A,c.1562G>A,p.S521N |
| PDLIM5(NM_001256426,PDZ and LIM domain 5,625aa) | g.4:95575666G>A,c.1426G>A,p.A476T |
| PDLIM5(NM_001256426,PDZ and LIM domain 5,625aa) | g.4:95561459A>G,c.1228A>G,p.T410A |
| PDLIM5(NM_001256426,PDZ and LIM domain 5,625aa) | g.4:95539267G>A,c.1120G>A,p.A374T |
| PDLIM5(NM_001256426,PDZ and LIM domain 5,625aa) | g.4:95539205G>A,c.1058G>A,p.R353Q |
| PDLIM5(NM_001256426,PDZ and LIM domain 5,625aa) | g.4:95532323A>G,c.979A>G,p.T327A |
| PDLIM5(NM_001256426,PDZ and LIM domain 5,625aa) | g.4:95531326C>T,c.746C>T,p.T249I |
| PDLIM5(NM_001256426,PDZ and LIM domain 5,625aa) | g.4:95529236C>G,c.638C>G,p.P213R |
| PDLIM5(NM_001256426,PDZ and LIM domain 5,625aa) | g.4:95497170G>A,c.368G>A,p.S123N |
| PDLIM5(NM_001256426,PDZ and LIM domain 5,625aa) | g.4:95376504A>G,c.65A>G,p.K22R |
| PDLIM4(NM_003687,PDZ and LIM domain 4,330aa) | g.5:131607782G>A,c.853G>A,p.G285S |
| PDLIM4(NM_003687,PDZ and LIM domain 4,330aa) | g.5:131607721C>T,c.792C>T,p.G264G |
| PDLIM4(NM_003687,PDZ and LIM domain 4,330aa) | g.5:131607588G>T,c.775G>T,p.G259C |
| PDLIM4(NM_003687,PDZ and LIM domain 4,330aa) | g.5:131607096G>A,c.607G>A,p.A203T |
| PDLIM4(NM_003687,PDZ and LIM domain 4,330aa) | g.5:131602224G>A,c.313G>A,p.D105N |
| PDLIM3(NM_014476,PDZ and LIM domain 3,364aa) | g.4:186456572A>T,c.17T>A,p.I6N |