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MT-ND6
A14430C
A14495G
A14495G-F1
A14538G
A14582G
A14596T
A14596T-F1
A14597G
C14340T
C14342A
C14482A
C14482A-F5
C14482G
C14482G-F1
C14568T
C14568T-F1
C14568T-F2
G14258A
G14258A-F3
G14279A
G14279A-F1
G14439A
G14453A
G14459A
G14459A-F3
G14459A-F7
G14459A-F9
G14459A-F10
G14459A-F19
G14459A-F27
G14465A
G14600A
G14600A-F1
T14319C
T14325C
T14351C
T14441C
T14484C
T14484C-F6
T14484C-F7
T14484C-F9
T14484C-F38
T14484C-F40
T14484C-F41
T14484C-F53
T14484C-F55
T14484C-F58
T14484C-F63
T14484C-F68
T14484C-F70
T14484C-F87
T14484C-F127
T14484C-F128
T14484C-F135
T14484C-F138
T14484C-F148
T14484C-F163
T14498C
T14498C-F1
T14502C
T14502C-F2
T14502C-F6
T14502C-F7
T14502C-F8
T14502C-F9
T14577C
T14577C-F1
T14487C
T14487C-F8
T14487C-F10
T14487C-F13
T14487C-F24
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T14502C
# **General Information** | **Position** | **14502** | **Variant** | **m.14502T\>C** | **Locus** | **MT\-ND6** | **Amino\-AcidChange** | **I58V** | | --- | --- | --- | --- | --- | --- | --- | --- | | **Homoplasmy** | \+ | **Heteroplasmy** | \- | **APOGEE2** | Benign | **Pathogenicity** | Reported \- possibly synergistic | "Pathogenicity" status is derived from published literature or predictions from bioinformatics tools. Researchers and clinicians are cautioned that additional data and/or analysis may still be necessary to confirm the pathological significance of these variants. For more information, please see [Mitofam Info](https://mitofam.com/doc/385/). # **Pedigree Information** The **m.14502T\>C** variant in MT\-ND6 has been reported in 55 pedigrees. To date, 94 carriers have been reported. Homoplasmy was reported in 92/94 carriers (97\.9%), and 93/94 carriers (98\.9%) were affected. The main clinical manifestations among affected carriers included LHON, severe visual impairment, profound visual impairment, co\_primary G11778A, family\_history Yes, family\_history No, 0\.1, mild visual impairment, and other features. | **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** | | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | | 1 | 14502 | m.14502T\>C | T14502C\-F1 | China | LHON | 0 | 0 | 2005 | [15896721](https://pubmed.ncbi.nlm.nih.gov/15896721/) | | | 2 | 14502 | m.14502T\>C | [T14502C\-F2](https://mitofam.com/doc/2158/) | China | Leber hereditary optic neuropathy | 0 | 8 | 2008 | [18440284](https://pubmed.ncbi.nlm.nih.gov/18440284/) | | | 3 | 14502 | m.14502T\>C | T14502C\-F3 | China | LHON | 7 | 0 | 2009 | [19732751](https://pubmed.ncbi.nlm.nih.gov/19732751/) | | | 4 | 14502 | m.14502T\>C | T14502C\-F4 | China | LHON | 5 | 0 | 2009 | [19732751](https://pubmed.ncbi.nlm.nih.gov/19732751/) | | | 5 | 14502 | m.14502T\>C | T14502C\-F5 | China | LHON | 15 | 0 | 2009 | [19732751](https://pubmed.ncbi.nlm.nih.gov/19732751/) | | | 6 | 14502 | m.14502T\>C | [T14502C\-F6](https://mitofam.com/doc/2159/) | China | LHON | 6 | 7 | 2010 | [20691156](https://pubmed.ncbi.nlm.nih.gov/20691156/) | | | 7 | 14502 | m.14502T\>C | [T14502C\-F7](https://mitofam.com/doc/2160/) | China | LHON | 22 | 11 | 2010 | [20691156](https://pubmed.ncbi.nlm.nih.gov/20691156/) | | | 8 | 14502 | m.14502T\>C | [T14502C\-F8](https://mitofam.com/doc/2161/) | China | LHON | 11 | 3 | 2010 | [20691156](https://pubmed.ncbi.nlm.nih.gov/20691156/) | | | 9 | 14502 | m.14502T\>C | [T14502C\-F9](https://mitofam.com/doc/2162/) | China | LHON | 13 | 6 | 2010 | [20691156](https://pubmed.ncbi.nlm.nih.gov/20691156/) | | | 10 | 14502 | m.14502T\>C | T14502C\-F10 | China | LHON | 0 | 0 | 2014 | [24398099](https://pubmed.ncbi.nlm.nih.gov/24398099/) | | | 11 | 14502 | m.14502T\>C | T14502C\-F11 | China | LHON | 0 | 0 | 2014 | [24398099](https://pubmed.ncbi.nlm.nih.gov/24398099/) | | | 12 | 14502 | m.14502T\>C | T14502C\-F12 | China | LHON | 0 | 0 | 2014 | [24398099](https://pubmed.ncbi.nlm.nih.gov/24398099/) | | | 13 | 14502 | m.14502T\>C | T14502C\-F13 | China | LHON | 0 | 0 | 2014 | [24398099](https://pubmed.ncbi.nlm.nih.gov/24398099/) | | | 14 | 14502 | m.14502T\>C | T14502C\-F14 | China | LHON | 0 | 0 | 2014 | [24398099](https://pubmed.ncbi.nlm.nih.gov/24398099/) | | | 15 | 14502 | m.14502T\>C | T14502C\-F15 | China | LHON | 0 | 0 | 2014 | [24398099](https://pubmed.ncbi.nlm.nih.gov/24398099/) | | | 16 | 14502 | m.14502T\>C | T14502C\-F16 | China | LHON | 0 | 0 | 2014 | [24398099](https://pubmed.ncbi.nlm.nih.gov/24398099/) | | | 17 | 14502 | m.14502T\>C | T14502C\-F17 | China | LHON | 0 | 0 | 2014 | [24398099](https://pubmed.ncbi.nlm.nih.gov/24398099/) | | | 18 | 14502 | m.14502T\>C | T14502C\-F18 | China | LHON | 0 | 0 | 2014 | [24398099](https://pubmed.ncbi.nlm.nih.gov/24398099/) | | | 19 | 14502 | m.14502T\>C | T14502C\-F19 | China | LHON | 0 | 0 | 2014 | [24398099](https://pubmed.ncbi.nlm.nih.gov/24398099/) | | | 20 | 14502 | m.14502T\>C | T14502C\-F20 | China | LHON | 0 | 0 | 2014 | [24398099](https://pubmed.ncbi.nlm.nih.gov/24398099/) | | | 21 | 14502 | m.14502T\>C | T14502C\-F21 | China | LHON | 0 | 0 | 2014 | [24398099](https://pubmed.ncbi.nlm.nih.gov/24398099/) | | | 22 | 14502 | m.14502T\>C | T14502C\-F22 | China | LHON | 0 | 0 | 2014 | [24398099](https://pubmed.ncbi.nlm.nih.gov/24398099/) | | | 23 | 14502 | m.14502T\>C | T14502C\-F23 | China | LHON | 0 | 0 | 2014 | [24398099](https://pubmed.ncbi.nlm.nih.gov/24398099/) | | | 24 | 14502 | m.14502T\>C | T14502C\-F24 | China | LHON | 0 | 0 | 2014 | [24398099](https://pubmed.ncbi.nlm.nih.gov/24398099/) | | | 25 | 14502 | m.14502T\>C | T14502C\-F25 | China | LHON | 0 | 0 | 2014 | [24398099](https://pubmed.ncbi.nlm.nih.gov/24398099/) | | | 26 | 14502 | m.14502T\>C | T14502C\-F26 | China | LHON | 0 | 0 | 2014 | [24398099](https://pubmed.ncbi.nlm.nih.gov/24398099/) | | | 27 | 14502 | m.14502T\>C | T14502C\-F27 | China | LHON | 0 | 0 | 2014 | [24398099](https://pubmed.ncbi.nlm.nih.gov/24398099/) | | | 28 | 14502 | m.14502T\>C | T14502C\-F28 | China | LHON | 0 | 0 | 2014 | [24398099](https://pubmed.ncbi.nlm.nih.gov/24398099/) | | | 29 | 14502 | m.14502T\>C | T14502C\-F29 | China | LHON | 0 | 0 | 2014 | [24398099](https://pubmed.ncbi.nlm.nih.gov/24398099/) | | | 30 | 14502 | m.14502T\>C | T14502C\-F30 | China | LHON | 0 | 0 | 2014 | [24398099](https://pubmed.ncbi.nlm.nih.gov/24398099/) | | | 31 | 14502 | m.14502T\>C | T14502C\-F31 | China | LHON | 0 | 0 | 2014 | [24398099](https://pubmed.ncbi.nlm.nih.gov/24398099/) | | | 32 | 14502 | m.14502T\>C | T14502C\-F32 | China | LHON | 0 | 0 | 2014 | [24398099](https://pubmed.ncbi.nlm.nih.gov/24398099/) | | | 33 | 14502 | m.14502T\>C | T14502C\-F33 | China | LHON | 0 | 0 | 2014 | [24398099](https://pubmed.ncbi.nlm.nih.gov/24398099/) | | | 34 | 14502 | m.14502T\>C | T14502C\-F34 | China | LHON | 0 | 0 | 2014 | [24398099](https://pubmed.ncbi.nlm.nih.gov/24398099/) | | | 35 | 14502 | m.14502T\>C | T14502C\-F35 | China | LHON | 0 | 0 | 2014 | [24398099](https://pubmed.ncbi.nlm.nih.gov/24398099/) | | | 36 | 14502 | m.14502T\>C | T14502C\-F36 | China | LHON | 0 | 0 | 2014 | [24398099](https://pubmed.ncbi.nlm.nih.gov/24398099/) | | | 37 | 14502 | m.14502T\>C | T14502C\-F37 | China | LHON | 0 | 0 | 2014 | [24398099](https://pubmed.ncbi.nlm.nih.gov/24398099/) | | | 38 | 14502 | m.14502T\>C | T14502C\-F38 | China | LHON | 0 | 0 | 2014 | [24398099](https://pubmed.ncbi.nlm.nih.gov/24398099/) | | | 39 | 14502 | m.14502T\>C | T14502C\-F39 | China | LHON | 0 | 0 | 2014 | [24398099](https://pubmed.ncbi.nlm.nih.gov/24398099/) | | | 40 | 14502 | m.14502T\>C | T14502C\-F40 | China | LHON | 0 | 0 | 2014 | [24398099](https://pubmed.ncbi.nlm.nih.gov/24398099/) | | | 41 | 14502 | m.14502T\>C | T14502C\-F41 | China | LHON | 0 | 0 | 2014 | [24398099](https://pubmed.ncbi.nlm.nih.gov/24398099/) | | | 42 | 14502 | m.14502T\>C | T14502C\-F42 | China | LHON | 0 | 0 | 2014 | [24398099](https://pubmed.ncbi.nlm.nih.gov/24398099/) | | | 43 | 14502 | m.14502T\>C | T14502C\-F43 | China | LHON | 0 | 0 | 2014 | [24398099](https://pubmed.ncbi.nlm.nih.gov/24398099/) | | | 44 | 14502 | m.14502T\>C | T14502C\-F44 | China | LHON | 0 | 0 | 2014 | [24398099](https://pubmed.ncbi.nlm.nih.gov/24398099/) | | | 45 | 14502 | m.14502T\>C | T14502C\-F45 | China | Leber hereditary optic neuropathy | 6 | 3 | 2016 | [27427386](https://pubmed.ncbi.nlm.nih.gov/27427386/) | | | 46 | 14502 | m.14502T\>C | T14502C\-F46 | China | LHON | 0 | 0 | 2019 | [32045392](https://pubmed.ncbi.nlm.nih.gov/32045392/) | | | 47 | 14502 | m.14502T\>C | T14502C\-F47 | China | LHON | 0 | 0 | 2019 | [32045392](https://pubmed.ncbi.nlm.nih.gov/32045392/) | | | 48 | 14502 | m.14502T\>C | T14502C\-F48 | China | LHON | 0 | 0 | 2019 | [32045392](https://pubmed.ncbi.nlm.nih.gov/32045392/) | | | 49 | 14502 | m.14502T\>C | T14502C\-F49 | China | LHON | 0 | 0 | 2019 | [32045392](https://pubmed.ncbi.nlm.nih.gov/32045392/) | | | 50 | 14502 | m.14502T\>C | T14502C\-F50 | China | LHON | 0 | 0 | 2019 | [32045392](https://pubmed.ncbi.nlm.nih.gov/32045392/) | | | 51 | 14502 | m.14502T\>C | T14502C\-F51 | China | LHON | 0 | 0 | 2019 | [32045392](https://pubmed.ncbi.nlm.nih.gov/32045392/) | | | 52 | 14502 | m.14502T\>C | T14502C\-F52 | China | LHON | 0 | 0 | 2019 | [32045392](https://pubmed.ncbi.nlm.nih.gov/32045392/) | | | 53 | 14502 | m.14502T\>C | T14502C\-F53 | China | LHON | 0 | 0 | 2019 | [32045392](https://pubmed.ncbi.nlm.nih.gov/32045392/) | | | 54 | 14502 | m.14502T\>C | T14502C\-F54 | Belgium | LHON | 1 | 3 | 2021 | [33858285](https://pubmed.ncbi.nlm.nih.gov/33858285/) | | | 55 | 14502 | m.14502T\>C | T14502C\-F55 | India | LHON | 0 | 0 | 2025 | [40969215](https://pubmed.ncbi.nlm.nih.gov/40969215/) | Carrying T8594C | # **Carrier Information** | **No.** | **Position** | **Variant** | **Family ID** | **Carrier ID** | **Type (Fam/De novo/Uninf)** | **Gender (F/M)** | **Proband (Y/N)** | **Affected (Y/N)** | **Die/Alive(D/A)** | **Age** | **Blood Mutant Level** | **Muscle Mutant level** | **Urine Mutant level** | **Other Mutant level** | **Clinical Features** | **Note** | | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | | 1 | 14502 | m.14502T\>C | T14502C\-F1 | T14502C\-F1\-III1 | Fam | M | Y | Y | A | 20 | Detected; load NR | / | / | / | Bilateral visual impairment at 17 years; visual acuity below 0\.01 both eyes; typical LHON | Original label WZ6\-III\-1 | | 2 | 14502 | m.14502T\>C | T14502C\-F2 | T14502C\-F2\-II1 | Fam | ND | N | Y | ND | 62 | Homo | / | / | / | LHON visual impairment; onset 18; VA OD 0\.04 OS 0\.06 | Original label II\-1 | | 3 | 14502 | m.14502T\>C | T14502C\-F2 | T14502C\-F2\-II2 | Fam | ND | N | Y | ND | 58 | Homo | / | / | / | LHON visual impairment; onset 17; VA OD 0\.04 OS 0\.04 | Original label II\-2 | | 4 | 14502 | m.14502T\>C | T14502C\-F2 | T14502C\-F2\-II3 | Fam | ND | N | Y | ND | 56 | Homo | / | / | / | LHON visual impairment; onset 16; VA OD 0\.08 OS 0\.06 | Original label II\-3 | | 5 | 14502 | m.14502T\>C | T14502C\-F2 | T14502C\-F2\-III2 | Fam | ND | N | Y | ND | 39 | Homo | / | / | / | LHON visual impairment; onset 17; VA OD 0\.12 OS 0\.12 | Original label III\-2 | | 6 | 14502 | m.14502T\>C | T14502C\-F2 | T14502C\-F2\-III3 | Fam | ND | N | Y | ND | 37 | Homo | / | / | / | LHON visual impairment; onset 17; VA OD 0\.1 OS 0\.12 | Original label III\-3 | | 7 | 14502 | m.14502T\>C | T14502C\-F2 | T14502C\-F2\-III4 | Fam | ND | N | Y | ND | 35 | Homo | / | / | / | LHON visual impairment; onset 17; VA OD 0\.1 OS 0\.1 | Original label III\-4 | | 8 | 14502 | m.14502T\>C | T14502C\-F2 | T14502C\-F2\-III5 | Fam | ND | N | Y | ND | 32 | Homo | / | / | / | LHON visual impairment; onset 16; VA OD 0\.08 OS 0\.08 | Original label III\-5 | | 9 | 14502 | m.14502T\>C | T14502C\-F2 | T14502C\-F2\-III6 | Fam | M | Y | Y | ND | 30 | Homo | / | / | / | LHON visual impairment; onset 18; VA OD 0\.1 OS 0\.1 | Original label III\-6 | | 10 | 14502 | m.14502T\>C | T14502C\-F2 | T14502C\-F2\-IV2 | Fam | ND | N | Y | ND | 21 | Homo | / | / | / | LHON visual impairment; onset 18; VA OD 0\.12 OS 0\.15 | Original label IV\-2 | | 11 | 14502 | m.14502T\>C | T14502C\-F3 | T14502C\-F3\-III1 | Fam | F | Y | Y | A | 17 | Homo | / | / | / | Mild LHON; onset 11 y; bilateral visual acuity 0\.1; central scotoma; abnormal optic discs | Original label WZ401\-III\-1 | | 12 | 14502 | m.14502T\>C | T14502C\-F4 | T14502C\-F4\-III2 | Fam | M | Y | Y | A | 4 | Homo | / | / | / | Mild LHON; onset 2 y; bilateral visual acuity 0\.1; VEP abnormality | Original label WZ402\-III\-2 | | 13 | 14502 | m.14502T\>C | T14502C\-F5 | T14502C\-F5\-II12 | Fam | F | Y | Y | A | 40 | Homo | / | / | / | Mild LHON; onset 30 y; visual acuity 0\.3 right and 0\.2 left; central scotoma; abnormal optic discs | Original label WZ403\-II\-12 | | 14 | 14502 | m.14502T\>C | T14502C\-F6 | T14502C\-F6\-I2 | Fam | F | N | Y | A | ND | Homo | / | / | / | LHON; severe visual impairment | Original label WZ404\-I\-2 | | 15 | 14502 | m.14502T\>C | T14502C\-F6 | T14502C\-F6\-II5 | Fam | M | N | Y | A | ND | Homo | / | / | / | LHON; profound visual impairment | Original label WZ404\-II\-5 | | 16 | 14502 | m.14502T\>C | T14502C\-F6 | T14502C\-F6\-II7 | Fam | F | Y | Y | A | 38 | Homo | / | / | / | LHON; severe visual impairment; onset 24 y; bilateral visual acuity 0\.04 | Original label WZ404\-II\-7; carrying G11778A (Homo/near\-Homo) | | 17 | 14502 | m.14502T\>C | T14502C\-F6 | T14502C\-F6\-II10 | Fam | F | N | Y | A | ND | Homo | / | / | / | LHON; severe visual impairment | Original label WZ404\-II\-10 | | 18 | 14502 | m.14502T\>C | T14502C\-F6 | T14502C\-F6\-III1 | Fam | M | N | Y | A | ND | Homo | / | / | / | LHON; profound visual impairment | Original label WZ404\-III\-1 | | 19 | 14502 | m.14502T\>C | T14502C\-F6 | T14502C\-F6\-III2 | Fam | F | N | Y | A | ND | Homo | / | / | / | LHON; moderate visual impairment | Original label WZ404\-III\-2 | | 20 | 14502 | m.14502T\>C | T14502C\-F6 | T14502C\-F6\-III5 | Fam | M | N | Y | A | ND | Homo | / | / | / | LHON; moderate visual impairment | Original label WZ404\-III\-5 | | 21 | 14502 | m.14502T\>C | T14502C\-F6 | T14502C\-F6\-III6 | Fam | M | N | Y | A | ND | Homo | / | / | / | LHON; profound visual impairment | Original label WZ404\-III\-6 | | 22 | 14502 | m.14502T\>C | T14502C\-F7 | T14502C\-F7\-II4 | Fam | F | N | Y | D | ND | Homo | / | / | / | LHON; profound visual impairment | Original label WZ405\-II\-4 | | 23 | 14502 | m.14502T\>C | T14502C\-F7 | T14502C\-F7\-II9 | Fam | M | N | Y | A | ND | Homo | / | / | / | LHON; profound visual impairment | Original label WZ405\-II\-9 | | 24 | 14502 | m.14502T\>C | T14502C\-F7 | T14502C\-F7\-II11 | Fam | F | N | Y | D | ND | Homo | / | / | / | LHON; severe visual impairment | Original label WZ405\-II\-11 | | 25 | 14502 | m.14502T\>C | T14502C\-F7 | T14502C\-F7\-III7 | Fam | M | N | Y | A | ND | Homo | / | / | / | LHON; severe visual impairment | Original label WZ405\-III\-7 | | 26 | 14502 | m.14502T\>C | T14502C\-F7 | T14502C\-F7\-III8 | Fam | M | N | Y | A | ND | Homo | / | / | / | LHON; profound visual impairment | Original label WZ405\-III\-8 | | 27 | 14502 | m.14502T\>C | T14502C\-F7 | T14502C\-F7\-III11 | Fam | M | N | Y | A | ND | Homo | / | / | / | LHON; profound visual impairment | Original label WZ405\-III\-11 | | 28 | 14502 | m.14502T\>C | T14502C\-F7 | T14502C\-F7\-III12 | Fam | M | N | Y | A | ND | Homo | / | / | / | LHON; severe visual impairment | Original label WZ405\-III\-12 | | 29 | 14502 | m.14502T\>C | T14502C\-F7 | T14502C\-F7\-III17 | Fam | M | N | Y | A | ND | Homo | / | / | / | LHON; severe visual impairment | Original label WZ405\-III\-17 | | 30 | 14502 | m.14502T\>C | T14502C\-F7 | T14502C\-F7\-III23 | Fam | F | N | Y | A | ND | Homo | / | / | / | LHON; profound visual impairment | Original label WZ405\-III\-23 | | 31 | 14502 | m.14502T\>C | T14502C\-F7 | T14502C\-F7\-IV1 | Fam | M | N | Y | A | ND | Homo | / | / | / | LHON; moderate visual impairment | Original label WZ405\-IV\-1 | | 32 | 14502 | m.14502T\>C | T14502C\-F7 | T14502C\-F7\-IV2 | Fam | M | N | Y | A | ND | Homo | / | / | / | LHON; moderate visual impairment | Original label WZ405\-IV\-2 | | 33 | 14502 | m.14502T\>C | T14502C\-F7 | T14502C\-F7\-IV9 | Fam | M | Y | Y | A | 24 | Homo | / | / | / | LHON; severe visual impairment; onset 24 y; right visual acuity 0\.01 and left 0\.3 | Original label WZ405\-IV\-9; carrying G11778A (Homo/near\-Homo) | | 34 | 14502 | m.14502T\>C | T14502C\-F8 | T14502C\-F8\-III4 | Fam | M | N | Y | ND | 21 y onset | Homo | / | / | / | LHON; profound visual impairment | Original label WZ406\-III\-4 | | 35 | 14502 | m.14502T\>C | T14502C\-F8 | T14502C\-F8\-III5 | Fam | F | Y | Y | A | 26 | Homo | / | / | / | LHON; severe visual impairment; onset 26 y; visual acuity 0\.01 right and 0\.05 left | Original label WZ406\-III\-5; carrying G11778A (Homo/near\-Homo) | | 36 | 14502 | m.14502T\>C | T14502C\-F8 | T14502C\-F8\-III6 | Fam | F | N | Y | ND | 25 y onset | Homo | / | / | / | LHON; moderate visual impairment | Original label WZ406\-III\-6 | | 37 | 14502 | m.14502T\>C | T14502C\-F8 | T14502C\-F8\-III9 | Fam | F | N | Y | ND | 28 y onset | Homo | / | / | / | LHON; severe visual impairment | Original label WZ406\-III\-9 | | 38 | 14502 | m.14502T\>C | T14502C\-F9 | T14502C\-F9\-II2 | Fam | F | N | Y | ND | ND | Homo | / | / | / | LHON; severe visual impairment | Original label WZ407\-II\-2 | | 39 | 14502 | m.14502T\>C | T14502C\-F9 | T14502C\-F9\-II3 | Fam | M | N | Y | ND | ND | Homo | / | / | / | LHON; profound visual impairment | Original label WZ407\-II\-3 | | 40 | 14502 | m.14502T\>C | T14502C\-F9 | T14502C\-F9\-III2 | Fam | F | N | Y | ND | ND | Homo | / | / | / | LHON; severe visual impairment | Original label WZ407\-III\-2 | | 41 | 14502 | m.14502T\>C | T14502C\-F9 | T14502C\-F9\-III4 | Fam | F | N | Y | ND | ND | Homo | / | / | / | LHON; profound visual impairment | Original label WZ407\-III\-4 | | 42 | 14502 | m.14502T\>C | T14502C\-F9 | T14502C\-F9\-III5 | Fam | M | N | Y | ND | ND | Homo | / | / | / | LHON; moderate visual impairment | Original label WZ407\-III\-5 | | 43 | 14502 | m.14502T\>C | T14502C\-F9 | T14502C\-F9\-III10 | Fam | M | Y | Y | A | 19 | Homo | / | / | / | LHON; moderate visual impairment; onset 18 y; visual acuity 0\.08 right and 0\.1 left | Original label WZ407\-III\-10; carrying G11778A (Homo/near\-Homo) | | 44 | 14502 | m.14502T\>C | T14502C\-F9 | T14502C\-F9\-III14 | Fam | M | N | Y | ND | ND | Homo | / | / | / | LHON; moderate visual impairment | Original label WZ407\-III\-14 | | 45 | 14502 | m.14502T\>C | T14502C\-F10 | T14502C\-F10\-III1 | Uninf | F | Y | Y | ND | 15y\_onset | Homo | / | / | / | LHON; severe visual impairment; VA 0\.05/0\.1; primary\_mutation none; family\_history No | Original label WZ465\-III\-1 | | 46 | 14502 | m.14502T\>C | T14502C\-F11 | T14502C\-F11\-III14 | Fam | F | Y | Y | ND | 13y\_onset | Homo | / | / | / | LHON; severe visual impairment; VA 0\.1/0\.05; co\_primary G11778A; family\_history Yes | Original label WZ195\-III\-14 | | 47 | 14502 | m.14502T\>C | T14502C\-F12 | T14502C\-F12\-III2 | Fam | M | Y | Y | ND | 16y\_onset | Homo | / | / | / | LHON; profound visual impairment; VA 0\.01/0\.2; co\_primary G11778A; family\_history Yes | Original label WZ330\-III\-2 | | 48 | 14502 | m.14502T\>C | T14502C\-F13 | T14502C\-F13\-IV1 | Uninf | M | Y | Y | ND | 14y\_onset | Homo | / | / | / | LHON; severe visual impairment; VA 0\.1/0\.04; co\_primary G11778A; family\_history No | Original label WZ452\-IV\-1 | | 49 | 14502 | m.14502T\>C | T14502C\-F14 | T14502C\-F14\-III3 | Fam | M | Y | Y | ND | 35y\_onset | Homo | / | / | / | LHON; profound visual impairment; VA 0\.03/0\.01; co\_primary G11778A; family\_history Yes | Original label WZ878\-III\-3 | | 50 | 14502 | m.14502T\>C | T14502C\-F15 | T14502C\-F15\-III1 | Uninf | M | Y | Y | ND | 35y\_onset | Homo | / | / | / | LHON; mild visual impairment; VA 0\.6/0\.1; co\_primary G11778A; family\_history No | Original label WZ939\-III\-1 | | 51 | 14502 | m.14502T\>C | T14502C\-F16 | T14502C\-F16\-IV4 | Fam | M | Y | Y | ND | 15y\_onset | Homo | / | / | / | LHON; profound visual impairment; VA 0\.1/FC/1m; co\_primary G11778A; family\_history Yes | Original label WZ956\-IV\-4 | | 52 | 14502 | m.14502T\>C | T14502C\-F17 | T14502C\-F17\-III1 | Uninf | M | Y | Y | ND | 19y\_onset | Homo | / | / | / | LHON; profound visual impairment; VA FC/1m/0\.6; co\_primary G11778A; family\_history No | Original label WZ1102\-III\-1 | | 53 | 14502 | m.14502T\>C | T14502C\-F18 | T14502C\-F18\-III1 | Fam | M | Y | Y | ND | 15y\_onset | Homo | / | / | / | LHON; mild visual impairment; VA 0\.2/0\.2; co\_primary G11778A; family\_history Yes | Original label WZ1347\-III\-1 | | 54 | 14502 | m.14502T\>C | T14502C\-F19 | T14502C\-F19\-III3 | Fam | M | Y | Y | ND | 13y\_onset | Homo | / | / | / | LHON; severe visual impairment; VA 0\.03/0\.02; co\_primary G11778A; family\_history Yes | Original label WZ1186\-III\-3 | | 55 | 14502 | m.14502T\>C | T14502C\-F20 | T14502C\-F20\-III3 | Uninf | M | Y | Y | ND | 32y\_onset | Homo | / | / | / | LHON; profound visual impairment; VA 0\.1/FC/1m; co\_primary G11778A; family\_history No | Original label WZ1008\-III\-3 | | 56 | 14502 | m.14502T\>C | T14502C\-F21 | T14502C\-F21\-IV2 | Uninf | M | Y | Y | ND | 12y\_onset | Homo | / | / | / | LHON; profound visual impairment; VA 0\.03/0\.1; primary\_mutation none; family\_history No | Original label WZ589\-IV\-2 | | 57 | 14502 | m.14502T\>C | T14502C\-F22 | T14502C\-F22\-III6 | Fam | M | Y | Y | ND | 17y\_onset | Homo | / | / | / | LHON; profound visual impairment; VA FC/1m/FC/1m; co\_primary G11778A; family\_history Yes | Original label WZ1239\-III\-6 | | 58 | 14502 | m.14502T\>C | T14502C\-F23 | T14502C\-F23\-III1 | Fam | M | Y | Y | ND | 16y\_onset | Homo | / | / | / | LHON; severe visual impairment; VA 0\.02/0\.03; co\_primary G11778A; family\_history Yes | Original label WZ125\-III\-1 | | 59 | 14502 | m.14502T\>C | T14502C\-F24 | T14502C\-F24\-II3 | Fam | M | Y | Y | ND | 20y\_onset | Homo | / | / | / | LHON; severe visual impairment; VA 0\.03/0\.03; co\_primary G11778A; family\_history Yes | Original label WZ198\-II\-3 | | 60 | 14502 | m.14502T\>C | T14502C\-F25 | T14502C\-F25\-IV3 | Fam | M | Y | Y | ND | 22y\_onset | Homo | / | / | / | LHON; severe visual impairment; VA 0\.04/0\.01; co\_primary G11778A; family\_history Yes | Original label WZ995\-IV\-3 | | 61 | 14502 | m.14502T\>C | T14502C\-F26 | T14502C\-F26\-IV2 | Fam | F | Y | Y | ND | 14y\_onset | Homo | / | / | / | LHON; mild visual impairment; VA 0\.1/0\.1; co\_primary G11778A; family\_history Yes | Original label WZ1094\-IV\-2 | | 62 | 14502 | m.14502T\>C | T14502C\-F27 | T14502C\-F27\-III4 | Uninf | M | Y | Y | ND | 16y\_onset | Homo | / | / | / | LHON; severe visual impairment; VA 0\.03/0\.03; co\_primary T14484C; family\_history No | Original label WZ1244\-III\-4 | | 63 | 14502 | m.14502T\>C | T14502C\-F28 | T14502C\-F28\-IV8 | Fam | M | Y | Y | ND | 18y\_onset | Homo | / | / | / | LHON; severe visual impairment; VA 0\.02/0\.03; co\_primary G3460A; family\_history Yes | Original label WZ30\-IV\-8 | | 64 | 14502 | m.14502T\>C | T14502C\-F29 | T14502C\-F29\-III1 | Uninf | F | Y | Y | ND | 17y\_onset | Homo | / | / | / | LHON; mild visual impairment; VA 0\.1/0\.1; co\_primary T3866C; family\_history No | Original label WZ511\-III\-1 | | 65 | 14502 | m.14502T\>C | T14502C\-F30 | T14502C\-F30\-IV1 | Uninf | F | Y | Y | ND | 9y\_onset | Homo | / | / | / | LHON; moderate visual impairment; VA 0\.4/0\.4; primary\_mutation none; family\_history No | Original label WZ902\-IV\-1 | | 66 | 14502 | m.14502T\>C | T14502C\-F31 | T14502C\-F31\-III1 | Uninf | F | Y | Y | ND | 5y\_onset | Homo | / | / | / | LHON; profound visual impairment; VA FC/20cm/FC/30cm; co\_primary T3866C; family\_history No | Original label WZ512\-III\-1 | | 67 | 14502 | m.14502T\>C | T14502C\-F32 | T14502C\-F32\-III3 | Fam | F | Y | Y | ND | 34y\_onset | Homo | / | / | / | LHON; severe visual impairment; VA 0\.04/0\.1; co\_primary G11778A; family\_history Yes | Original label WZ50\-III\-3 | | 68 | 14502 | m.14502T\>C | T14502C\-F33 | T14502C\-F33\-III16 | Fam | F | Y | Y | ND | 26y\_onset | Homo | / | / | / | LHON; profound visual impairment; VA 0\.01/0\.05; co\_primary G11778A; family\_history Yes | Original label WZ406\-III\-16 | | 69 | 14502 | m.14502T\>C | T14502C\-F34 | T14502C\-F34\-III16 | Fam | M | Y | Y | ND | 24y\_onset | Homo | / | / | / | LHON; profound visual impairment; VA 0\.02/FC/30cm; co\_primary T14484C; family\_history Yes | Original label WZ60\-III\-16 | | 70 | 14502 | m.14502T\>C | T14502C\-F35 | T14502C\-F35\-III10 | Fam | M | Y | Y | ND | 14y\_onset | Homo | / | / | / | LHON; mild visual impairment; VA 0\.1/0\.1; co\_primary T14484C; family\_history Yes | Original label WZ67\-III\-10 | | 71 | 14502 | m.14502T\>C | T14502C\-F36 | T14502C\-F36\-III1 | Fam | F | Y | Y | ND | 11y\_onset | Homo | / | / | / | LHON; mild visual impairment; VA 0\.8/0\.2; co\_primary T14484C; family\_history Yes | Original label WZ73\-III\-1 | | 72 | 14502 | m.14502T\>C | T14502C\-F37 | T14502C\-F37\-III18 | Fam | M | Y | Y | ND | 30y\_onset | Homo | / | / | / | LHON; mild visual impairment; VA 0\.1/0\.12; co\_primary T14484C; family\_history Yes | Original label WZ74\-III\-18 | | 73 | 14502 | m.14502T\>C | T14502C\-F38 | T14502C\-F38\-III2 | Uninf | M | Y | Y | ND | 14y\_onset | Homo | / | / | / | LHON; mild visual impairment; VA 0\.6/0\.2; primary\_mutation none; family\_history No | Original label WZ1017\-III\-2 | | 74 | 14502 | m.14502T\>C | T14502C\-F39 | T14502C\-F39\-II1 | Fam | M | Y | Y | ND | 16y\_onset | Homo | / | / | / | LHON; severe visual impairment; VA 0\.1/0\.02; co\_primary T14484C; family\_history Yes | Original label WZ75\-II\-1 | | 75 | 14502 | m.14502T\>C | T14502C\-F40 | T14502C\-F40\-III4 | Uninf | F | Y | Y | ND | 11y\_onset | Homo | / | / | / | LHON; profound visual impairment; VA 0\.01/0\.2; primary\_mutation none; family\_history No | Original label WZ1038\-III\-4 | | 76 | 14502 | m.14502T\>C | T14502C\-F41 | T14502C\-F41\-IV2 | Uninf | M | Y | Y | ND | 6y\_onset | Homo | / | / | / | LHON; mild visual impairment; VA 0\.25/0\.25; primary\_mutation none; family\_history No | Original label WZ1063\-IV\-2 | | 77 | 14502 | m.14502T\>C | T14502C\-F42 | T14502C\-F42\-III1 | Uninf | F | Y | Y | ND | 7y\_onset | Homo | / | / | / | LHON; mild visual impairment; VA 0\.5/0\.1; primary\_mutation none; family\_history No | Original label WZ474\-III\-1 | | 78 | 14502 | m.14502T\>C | T14502C\-F43 | T14502C\-F43\-III2 | Uninf | M | Y | Y | ND | 16y\_onset | Homo | / | / | / | LHON; severe visual impairment; VA 0\.03/0\.02; co\_primary G11778A; family\_history No | Original label WZ218\-III\-2 | | 79 | 14502 | m.14502T\>C | T14502C\-F44 | T14502C\-F44\-IV3 | Uninf | M | Y | Y | ND | 18y\_onset | Homo | / | / | / | LHON; severe visual impairment; VA 0\.02/0\.01; co\_primary G11778A; family\_history No | Original label WZ418\-IV\-3 | | 80 | 14502 | m.14502T\>C | T14502C\-F45 | T14502C\-F45\-III6 | Fam | ND | Y | Y | ND | 30\-40 | / | / | / | Homo (lymphoblastoid/cybrid) | LHON | Original label WZ440\-III\-6 | | 81 | 14502 | m.14502T\>C | T14502C\-F46 | T14502C\-F46\-M14502 | Uninf | M | Y | Y | ND | 17 | Homo | / | / | / | Worst BCVA 0\.3/0\.4; OA; no dystonia; follow\-up 2y BCVA 0\.4/0\.4 | Original label m14502TCcase1 | | 82 | 14502 | m.14502T\>C | T14502C\-F47 | T14502C\-F47\-M14502 | Uninf | M | Y | Y | ND | 24 | Homo | / | / | / | Worst BCVA 0\.01/0\.05; ISON; no dystonia; follow\-up 3y BCVA 0\.01/0\.05 | Original label m14502TCcase2 | | 83 | 14502 | m.14502T\>C | T14502C\-F48 | T14502C\-F48\-M14502 | Uninf | M | Y | Y | ND | 6 | Homo | / | / | / | Worst BCVA 0\.1/0\.1; OA; no dystonia; follow\-up 3y BCVA 0\.1/0\.1 | Original label m14502TCcase3 | | 84 | 14502 | m.14502T\>C | T14502C\-F49 | T14502C\-F49\-M14502 | Uninf | M | Y | Y | ND | 15 | Homo | / | / | / | Worst BCVA FC 30 cm/0\.05; ISON; no dystonia; follow\-up 3y BCVA 0\.05/0\.05 | Original label m14502TCcase4 | | 85 | 14502 | m.14502T\>C | T14502C\-F50 | T14502C\-F50\-M14502 | Uninf | F | Y | Y | ND | 16 | Homo | / | / | / | Worst BCVA 0\.1/FC; ISON; no dystonia; follow\-up 2\.5y BCVA 0\.1/0\.05 | Original label m14502TCcase5 | | 86 | 14502 | m.14502T\>C | T14502C\-F51 | T14502C\-F51\-M14502 | Uninf | M | Y | Y | ND | 25 | Homo | / | / | / | Worst BCVA 0\.4/0\.5; OA; no dystonia; follow\-up 1\.5y BCVA 0\.4/0\.5 | Original label m14502TCcase6 | | 87 | 14502 | m.14502T\>C | T14502C\-F52 | T14502C\-F52\-M14502 | Uninf | M | Y | Y | ND | 22 | Homo | / | / | / | Worst BCVA 0\.1/0\.1; OA; no dystonia; follow\-up 1y BCVA 0\.1/0\.1 | Original label m14502TCcase7 | | 88 | 14502 | m.14502T\>C | T14502C\-F53 | T14502C\-F53\-M14502 | Uninf | M | Y | Y | ND | 5 | Homo | / | / | / | Worst BCVA 0\.2/0\.2; OA; no dystonia; follow\-up 1y BCVA 0\.2/0\.2 | Original label m14502TCcase8 | | 89 | 14502 | m.14502T\>C | T14502C\-F54 | T14502C\-F54\-P1 | Fam | F | Y | Y | A | 23 | / | / | / | Homo (ND) | Acute painless right\-eye visual loss; central scotoma; optic disc pallor/atrophy; left eye mild OCT thinning | passive smoking and alcohol noted | | 90 | 14502 | m.14502T\>C | T14502C\-F54 | T14502C\-F54\-P2 | Fam | F | N | Y | A | 32 | / | / | / | Homo (ND) | No visual complaints; bilateral temporal optic disc pallor; OCT RNFL/GCL changes; mild field/color abnormalities | | | 91 | 14502 | m.14502T\>C | T14502C\-F54 | T14502C\-F54\-P3 | Fam | F | N | Y | A | 29 | / | / | / | Homo (ND) | No visual complaints; bilateral temporal optic disc pallor; OCT RNFL/GCL changes; normal field/color testing | | | 92 | 14502 | m.14502T\>C | T14502C\-F54 | T14502C\-F54\-P4 | Fam | F | N | Y | A | 27 | / | / | / | Homo (ND) | No visual complaints; mild temporal optic disc/RNFL changes; normal GCL and functional testing | no smoking and occasional alcohol | | 93 | 14502 | m.14502T\>C | T14502C\-F54 | T14502C\-F54\-P5 | Fam | F | N | N | A | 25 | / | / | / | Homo (ND) | Healthy | no smoking and no alcohol | | 94 | 14502 | m.14502T\>C | T14502C\-F55 | T14502C\-F55\-P1 | Uninf | M | Y | Y | ND | 22 | Positive | / | / | / | LHON; moderate visual impairment; onset at 13; normal brain/orbit MRI | Original label Sample 47; carrying T8594C | For abbreviations and other usage instructions, please see [Mitofam Info](https://mitofam.com/doc/385/).
Haoyu He
2026年6月30日 18:38
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