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MT-TS1
A7451T
A7472C
A7472C-F4
A7472C-F3
A7472C-F2
A7474G
A7484G
A7484G-F1
C7462T
C7462T-F3
C7462T-F2
C7462T-F1
C7492T
G7453A
G7458A
G7486A
G7497A
G7497A-F3
G7497A-F2
G7497A-F1
G7506A
T7480G
T7496C
T7501A
T7505C
T7505C-F2
T7505C-F1
T7510C
T7510C-F5
T7510C-F4
T7510C-F3
T7510C-F2
T7510C-F1
T7511C
T7511C-F10
T7511C-F9
T7511C-F8
T7511C-F7
T7511C-F5
T7511C-F4
T7511C-F2
T7511C-F1
T7511C-F3
T7512C
T7512C-F4
T7512C-F3
T7512C-F2
T7512C-F1
T7501C
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T7511C
# General Information | **Position** | **7511** | **Variant** | **m.7511T\>C** | **Locus** | **MT\-TS1** | **RNA** | **tRNA Ser (UCN)** | | --- | --- | --- | --- | --- | --- | --- | --- | | **Homoplasmy** | \+ | **Heteroplasmy** | \+ | **mitoTIP** | Pathogenic | **Pathogenicity** | Cfrm \[LP] | "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.7511T\>C** variant in MT\-TS1 has been reported in 10 pedigrees. To date, 175 carriers have been reported. Homoplasmy was reported in 32/175 carriers (18\.3%), and 104/175 carriers (59\.4%) were affected. The main clinical manifestations among affected carriers included hearing loss. | **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** | | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | | 1 | 7511 | m.7511T\>C | [T7511C\-F1](https://mitofam.com/doc/771/) | USA | Hearing loss | 7 | 35 | 1999 | [10371545](https://pubmed.ncbi.nlm.nih.gov/10371545/) | | | 2 | 7511 | m.7511T\>C | [T7511C\-F2](https://mitofam.com/doc/772/) | Japan | Hearing loss | 6 | 13 | 2002 | [12172268](https://pubmed.ncbi.nlm.nih.gov/12172268/) | | | 3 | 7511 | m.7511T\>C | T7511C\-F3 | French | Non syndromic sensorineural deafness | 10 | 8 | 2002 | [12461693](https://pubmed.ncbi.nlm.nih.gov/12461693/) | | | 4 | 7511 | m.7511T\>C |[ T7511C\-F4 ](https://mitofam.com/doc/773/)| French | Non syndromic sensorineural deafness | 14 | 5 | 2002 | [12461693](https://pubmed.ncbi.nlm.nih.gov/12461693/) | | | 5 | 7511 | m.7511T\>C | [T7511C\-F5 ](https://mitofam.com/doc/774/)| Japan | Hearing loss | 16 | 6 | 2007 | [18340555](https://pubmed.ncbi.nlm.nih.gov/18340555/) | | | 6 | 7511 | m.7511T\>C | T7511C\-F6 | China | Hearing loss | ND | ND | 2015 | [25968158](https://pubmed.ncbi.nlm.nih.gov/25968158/) | | | 7 | 7511 | m.7511T\>C | [T7511C\-F7](https://mitofam.com/doc/775/) | China | Hearing loss | 2 | 9 | 2015 | [26279247](https://pubmed.ncbi.nlm.nih.gov/26279247/) | | | 8 | 7511 | m.7511T\>C | T7511C\-F8 | Japan | Hearing loss | 8 | 8 | 2017 | [28320335](https://pubmed.ncbi.nlm.nih.gov/28320335/) | | | 9 | 7511 | m.7511T\>C | [T7511C\-F9](https://mitofam.com/doc/777/) | Poland | Hearing loss | 4 | 6 | 2018 | [29257206](https://pubmed.ncbi.nlm.nih.gov/29257206/) | | | 10 | 7511 | m.7511T\>C | [T7511C\-F10](https://mitofam.com/doc/778/) | Poland | Hearing loss | 4 | 5 | 2018 | [29257206](https://pubmed.ncbi.nlm.nih.gov/29257206/) | | # 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 | 7511 | m.7511T\>C | T7511C\-F1 | T7511C\-F1\-I1 | Uninf | F | N | Y | D | ND | / | / | / | / | Hearing loss | | | 2 | 7511 | m.7511T\>C | T7511C\-F1 | T7511C\-F1\-II1 | Fam | F | N | Y | A | ND | / | / | / | / | Hearing loss | | | 3 | 7511 | m.7511T\>C | T7511C\-F1 | T7511C\-F1\-II2 | Fam | M | N | Y | D | ND | / | / | / | / | Hearing loss | | | 4 | 7511 | m.7511T\>C | T7511C\-F1 | T7511C\-F1\-II4 | Fam | F | N | Y | A | ND | / | / | / | / | Hearing loss | | | 5 | 7511 | m.7511T\>C | T7511C\-F1 | T7511C\-F1\-II6 | Fam | F | N | Y | D | ND | / | / | / | / | Hearing loss | | | 6 | 7511 | m.7511T\>C | T7511C\-F1 | T7511C\-F1\-II9 | Fam | M | N | Y | A | ND | / | / | / | / | Hearing loss | | | 7 | 7511 | m.7511T\>C | T7511C\-F1 | T7511C\-F1\-II11 | Fam | F | N | Y | D | ND | / | / | / | / | Hearing loss | | | 8 | 7511 | m.7511T\>C | T7511C\-F1 | T7511C\-F1\-II13 | Fam | F | N | Y | A | ND | 1 | / | / | / | Hearing loss | | | 9 | 7511 | m.7511T\>C | T7511C\-F1 | T7511C\-F1\-II16 | Fam | M | N | Y | A | ND | / | / | / | / | Hearing loss | | | 10 | 7511 | m.7511T\>C | T7511C\-F1 | T7511C\-F1\-III5 | Fam | F | N | Y | A | ND | / | / | / | / | Hearing loss | | | 11 | 7511 | m.7511T\>C | T7511C\-F1 | T7511C\-F1\-III7 | Fam | M | N | Y | A | ND | / | / | / | / | Hearing loss | | | 12 | 7511 | m.7511T\>C | T7511C\-F1 | T7511C\-F1\-III9 | Fam | M | N | Y | A | ND | 1 | / | / | / | Hearing loss | | | 13 | 7511 | m.7511T\>C | T7511C\-F1 | T7511C\-F1\-III11 | Fam | M | N | Y | A | ND | / | / | / | / | Hearing loss | | | 14 | 7511 | m.7511T\>C | T7511C\-F1 | T7511C\-F1\-III16 | Fam | M | N | Y | A | ND | / | / | / | / | Hearing loss | | | 15 | 7511 | m.7511T\>C | T7511C\-F1 | T7511C\-F1\-III17 | Fam | M | N | Y | A | ND | / | / | / | / | Hearing loss | | | 16 | 7511 | m.7511T\>C | T7511C\-F1 | T7511C\-F1\-III19 | Fam | F | N | Y | A | ND | 1 | / | / | / | Hearing loss | | | 17 | 7511 | m.7511T\>C | T7511C\-F1 | T7511C\-F1\-III21 | Fam | M | N | Y | D | ND | / | / | / | / | Hearing loss | | | 18 | 7511 | m.7511T\>C | T7511C\-F1 | T7511C\-F1\-III22 | Fam | M | N | Y | A | ND | 92% | / | / | / | Hearing loss | | | 19 | 7511 | m.7511T\>C | T7511C\-F1 | T7511C\-F1\-III24 | Fam | F | N | Y | A | ND | 1 | / | / | / | Hearing loss | | | 20 | 7511 | m.7511T\>C | T7511C\-F1 | T7511C\-F1\-III27 | Fam | F | Y | Y | A | 35 | 1 | / | / | / | Hearing loss | | | 21 | 7511 | m.7511T\>C | T7511C\-F1 | T7511C\-F1\-III29 | Fam | F | N | Y | A | ND | 1 | / | / | / | Hearing loss | | | 22 | 7511 | m.7511T\>C | T7511C\-F1 | T7511C\-F1\-III31 | Fam | F | N | Y | A | ND | 1 | / | / | / | Hearing loss | | | 23 | 7511 | m.7511T\>C | T7511C\-F1 | T7511C\-F1\-III33 | Fam | F | N | Y | A | ND | / | / | / | / | Hearing loss | | | 24 | 7511 | m.7511T\>C | T7511C\-F1 | T7511C\-F1\-III36 | Fam | M | N | Y | A | ND | 1 | / | / | / | Hearing loss | | | 25 | 7511 | m.7511T\>C | T7511C\-F1 | T7511C\-F1\-IV8 | Fam | F | N | N | A | ND | / | / | / | / | Healthy | | | 26 | 7511 | m.7511T\>C | T7511C\-F1 | T7511C\-F1\-IV9 | Fam | F | N | Y | A | ND | / | / | / | / | Hearing loss | | | 27 | 7511 | m.7511T\>C | T7511C\-F1 | T7511C\-F1\-IV10 | Fam | M | N | Y | A | ND | / | / | / | / | Hearing loss | | | 28 | 7511 | m.7511T\>C | T7511C\-F1 | T7511C\-F1\-IV22 | Fam | M | N | Y | A | ND | / | / | / | / | Hearing loss | | | 29 | 7511 | m.7511T\>C | T7511C\-F1 | T7511C\-F1\-IV23 | Fam | M | N | Y | A | ND | 1 | / | / | / | Hearing loss | | | 30 | 7511 | m.7511T\>C | T7511C\-F1 | T7511C\-F1\-IV24 | Fam | F | N | Y | A | ND | 1 | / | / | / | Hearing loss | | | 31 | 7511 | m.7511T\>C | T7511C\-F1 | T7511C\-F1\-IV29 | Fam | M | N | Y | A | ND | 1 | / | / | / | Hearing loss | | | 32 | 7511 | m.7511T\>C | T7511C\-F1 | T7511C\-F1\-IV30 | Fam | M | N | Y | A | ND | 1 | / | / | / | Hearing loss | | | 33 | 7511 | m.7511T\>C | T7511C\-F1 | T7511C\-F1\-IV31 | Fam | M | N | N | A | ND | 1 | / | / | / | Healthy | | | 34 | 7511 | m.7511T\>C | T7511C\-F1 | T7511C\-F1\-IV32 | Fam | M | N | N | A | ND | 1 | / | / | / | Healthy | | | 35 | 7511 | m.7511T\>C | T7511C\-F1 | T7511C\-F1\-IV33 | Fam | M | N | N | A | ND | 1 | / | / | / | Healthy | | | 36 | 7511 | m.7511T\>C | T7511C\-F1 | T7511C\-F1\-IV34 | Fam | M | N | Y | A | ND | 1 | / | / | / | Hearing loss | | | 37 | 7511 | m.7511T\>C | T7511C\-F1 | T7511C\-F1\-IV35 | Fam | F | N | N | A | ND | / | / | / | / | Healthy | | | 38 | 7511 | m.7511T\>C | T7511C\-F1 | T7511C\-F1\-IV36 | Fam | F | N | Y | A | ND | 90% | / | / | / | Hearing loss | | | 39 | 7511 | m.7511T\>C | T7511C\-F1 | T7511C\-F1\-IV37 | Fam | M | N | Y | A | ND | 1 | / | / | / | Hearing loss | | | 40 | 7511 | m.7511T\>C | T7511C\-F1 | T7511C\-F1\-IV38 | Fam | F | N | N | A | ND | 1 | / | / | / | Healthy | | | 41 | 7511 | m.7511T\>C | T7511C\-F1 | T7511C\-F1\-IV39 | Fam | M | N | Y | A | ND | / | / | / | / | Hearing loss | | | 42 | 7511 | m.7511T\>C | T7511C\-F1 | T7511C\-F1\-IV40 | Fam | F | N | N | A | ND | / | / | / | / | Healthy | | | 43 | 7511 | m.7511T\>C | T7511C\-F1 | T7511C\-F1\-IV41 | Fam | M | N | Y | A | ND | / | / | / | / | Hearing loss | | | 44 | 7511 | m.7511T\>C | T7511C\-F2 | T7511C\-F2\-I2 | Uninf | F | N | Y | D | ND | / | / | / | / | Hearing loss | | | 45 | 7511 | m.7511T\>C | T7511C\-F2 | T7511C\-F2\-II1 | Fam | M | Y | Y | A | 43 | 90% | / | / | / | Hearing loss | | | 46 | 7511 | m.7511T\>C | T7511C\-F2 | T7511C\-F2\-II3 | Fam | F | N | Y | A | 8 | 89% | / | / | / | Hearing loss | | | 47 | 7511 | m.7511T\>C | T7511C\-F2 | T7511C\-F2\-II5 | Fam | F | N | Y | A | 57 | 84% | / | / | / | Hearing loss | | | 48 | 7511 | m.7511T\>C | T7511C\-F2 | T7511C\-F2\-II7 | Fam | F | N | Y | A | 28 | 85% | / | / | / | Hearing loss | | | 49 | 7511 | m.7511T\>C | T7511C\-F2 | T7511C\-F2\-II9 | Fam | F | N | Y | A | 50 | 86% | / | / | / | Hearing loss | | | 50 | 7511 | m.7511T\>C | T7511C\-F2 | T7511C\-F2\-II10 | Fam | F | N | N | A | 46 | 86% | / | / | / | Healthy | | | 51 | 7511 | m.7511T\>C | T7511C\-F2 | T7511C\-F2\-II11 | Fam | M | N | Y | A | 30 | 90% | / | / | / | Hearing loss | | | 52 | 7511 | m.7511T\>C | T7511C\-F2 | T7511C\-F2\-III1 | Fam | M | N | Y | A | 3 | 90% | / | / | / | Hearing loss | | | 53 | 7511 | m.7511T\>C | T7511C\-F2 | T7511C\-F2\-III2 | Fam | F | N | Y | A | 8 | 89% | / | / | / | Hearing loss | | | 54 | 7511 | m.7511T\>C | T7511C\-F2 | T7511C\-F2\-III3 | Fam | F | N | N | A | 31 | 88% | / | / | / | Healthy | | | 55 | 7511 | m.7511T\>C | T7511C\-F2 | T7511C\-F2\-III4 | Fam | F | N | N | A | 31 | 92% | / | / | / | Healthy | | | 56 | 7511 | m.7511T\>C | T7511C\-F2 | T7511C\-F2\-III5 | Fam | M | N | Y | A | 10 | 86% | / | / | / | Hearing loss | | | 57 | 7511 | m.7511T\>C | T7511C\-F2 | T7511C\-F2\-III7 | Fam | F | N | Y | A | 14 | 89% | / | / | / | Hearing loss | | | 58 | 7511 | m.7511T\>C | T7511C\-F2 | T7511C\-F2\-III8 | Fam | M | N | Y | A | 33 | 92% | / | / | / | Hearing loss | | | 59 | 7511 | m.7511T\>C | T7511C\-F2 | T7511C\-F2\-III9 | Fam | F | N | N | A | 32 | 90% | / | / | / | Healthy | | | 60 | 7511 | m.7511T\>C | T7511C\-F2 | T7511C\-F2\-III10 | Fam | M | N | Y | A | 30 | 86% | / | / | / | Hearing loss | | | 61 | 7511 | m.7511T\>C | T7511C\-F2 | T7511C\-F2\-III11 | Fam | M | N | N | A | 33 | 90% | / | / | / | Healthy | | | 62 | 7511 | m.7511T\>C | T7511C\-F2 | T7511C\-F2\-III12 | Fam | F | N | Y | A | 9 | 89% | / | / | / | Hearing loss | | | 63 | 7511 | m.7511T\>C | T7511C\-F2 | T7511C\-F2\-III13 | Fam | F | N | N | A | 28 | 86% | / | / | / | Healthy | | | 64 | 7511 | m.7511T\>C | T7511C\-F3 | T7511C\-F3\-I2 | Uninf | F | N | Y | D | ND | / | / | / | / | Hearing loss | | | 65 | 7511 | m.7511T\>C | T7511C\-F3 | T7511C\-F3\-II2 | Fam | F | N | Y | D | ND | / | / | / | / | Hearing loss | | | 66 | 7511 | m.7511T\>C | T7511C\-F3 | T7511C\-F3\-III2 | Fam | F | N | Y | A | 64 | Homo | / | / | / | Hearing loss | | | 67 | 7511 | m.7511T\>C | T7511C\-F3 | T7511C\-F3\-III3 | Fam | M | N | Y | D | ND | / | / | / | / | Hearing loss | | | 68 | 7511 | m.7511T\>C | T7511C\-F3 | T7511C\-F3\-III4 | Fam | F | N | N | A | ND | Homo | / | / | / | Healthy | | | 69 | 7511 | m.7511T\>C | T7511C\-F3 | T7511C\-F3\-III5 | Fam | M | N | Y | A | ND | / | / | / | / | Hearing loss | | | 70 | 7511 | m.7511T\>C | T7511C\-F3 | T7511C\-F3\-IV2 | Fam | F | N | Y | A | 39 | Homo | / | / | / | Hearing loss | | | 71 | 7511 | m.7511T\>C | T7511C\-F3 | T7511C\-F3\-IV4 | Fam | M | N | Y | A | ND | Homo | / | / | / | Hearing loss | | | 72 | 7511 | m.7511T\>C | T7511C\-F3 | T7511C\-F3\-IV5 | Fam | M | N | Y | D | 32 | / | / | / | / | Hearing loss | | | 73 | 7511 | m.7511T\>C | T7511C\-F3 | T7511C\-F3\-IV6 | Fam | F | N | N | A | 51 | Homo | / | / | / | Healthy | | | 74 | 7511 | m.7511T\>C | T7511C\-F3 | T7511C\-F3\-IV7 | Fam | F | N | N | A | ND | Homo | / | / | / | Healthy | | | 75 | 7511 | m.7511T\>C | T7511C\-F3 | T7511C\-F3\-V1 | Fam | F | Y | Y | A | 24 | Homo | / | / | / | Hearing loss | | | 76 | 7511 | m.7511T\>C | T7511C\-F3 | T7511C\-F3\-V2 | Fam | F | N | N | A | 14 | Homo | / | / | / | Healthy | | | 77 | 7511 | m.7511T\>C | T7511C\-F3 | T7511C\-F3\-V5 | Fam | M | N | N | A | ND | / | / | / | / | Healthy | | | 78 | 7511 | m.7511T\>C | T7511C\-F3 | T7511C\-F3\-V6 | Fam | F | N | N | A | ND | / | / | / | / | Healthy | | | 79 | 7511 | m.7511T\>C | T7511C\-F3 | T7511C\-F3\-V7 | Fam | F | N | N | A | ND | / | / | / | / | Healthy | | | 80 | 7511 | m.7511T\>C | T7511C\-F3 | T7511C\-F3\-V8 | Fam | F | N | N | A | ND | / | / | / | / | Healthy | | | 81 | 7511 | m.7511T\>C | T7511C\-F3 | T7511C\-F3\-V9 | Fam | F | N | N | A | ND | / | / | / | / | Healthy | | | 82 | 7511 | m.7511T\>C | T7511C\-F3 | T7511C\-F3\-V10 | Fam | F | N | N | A | ND | / | / | / | / | Healthy | | | 83 | 7511 | m.7511T\>C | T7511C\-F4 | T7511C\-F4\-I2 | Uninf | F | N | Y | A | 68 | 83% | / | 71% | 100% (H), 79% (BM) | Hearing loss | | | 84 | 7511 | m.7511T\>C | T7511C\-F4 | T7511C\-F4\-II1 | Fam | F | N | N | A | ND | 1 | / | / | / | Healthy | | | 85 | 7511 | m.7511T\>C | T7511C\-F4 | T7511C\-F4\-II2 | Fam | F | N | Y | A | ND | 51% | / | / | 46% (BM) | Hearing loss | | | 86 | 7511 | m.7511T\>C | T7511C\-F4 | T7511C\-F4\-II3 | Fam | M | Y | Y | A | 44 | 1 | / | / | / | Hearing loss | | | 87 | 7511 | m.7511T\>C | T7511C\-F4 | T7511C\-F4\-II4 | Fam | F | N | N | A | 31 | 61% | / | / | / | Healthy | | | 88 | 7511 | m.7511T\>C | T7511C\-F4 | T7511C\-F4\-II5 | Fam | M | N | N | A | ND | 57% | / | 63% | / | Healthy | | | 89 | 7511 | m.7511T\>C | T7511C\-F4 | T7511C\-F4\-II6 | Fam | M | N | N | A | 35 | 85% | / | / | 85% (H), 79% (BM) | Healthy | | | 90 | 7511 | m.7511T\>C | T7511C\-F4 | T7511C\-F4\-II7 | Fam | M | N | Y | A | ND | 85% | / | 78% | 79% (BM) | Hearing loss | | | 91 | 7511 | m.7511T\>C | T7511C\-F4 | T7511C\-F4\-III1 | Fam | F | N | Y | A | ND | 1 | / | / | / | Hearing loss | | | 92 | 7511 | m.7511T\>C | T7511C\-F4 | T7511C\-F4\-III2 | Fam | F | N | N | A | ND | / | / | / | / | Healthy | | | 93 | 7511 | m.7511T\>C | T7511C\-F4 | T7511C\-F4\-III3 | Fam | F | N | N | A | ND | / | / | / | / | Healthy | | | 94 | 7511 | m.7511T\>C | T7511C\-F4 | T7511C\-F4\-III4 | Fam | F | N | N | A | ND | 1 | / | / | / | Healthy | | | 95 | 7511 | m.7511T\>C | T7511C\-F4 | T7511C\-F4\-III5 | Fam | M | N | N | D | ND | / | / | / | / | Healthy | | | 96 | 7511 | m.7511T\>C | T7511C\-F4 | T7511C\-F4\-III6 | Fam | M | N | N | A | ND | / | / | / | / | Healthy | | | 97 | 7511 | m.7511T\>C | T7511C\-F4 | T7511C\-F4\-III7 | Fam | F | N | N | A | ND | / | / | / | / | Healthy | | | 98 | 7511 | m.7511T\>C | T7511C\-F4 | T7511C\-F4\-III8 | Fam | F | N | N | A | ND | / | / | / | / | Healthy | | | 99 | 7511 | m.7511T\>C | T7511C\-F4 | T7511C\-F4\-III9 | Fam | M | N | N | A | ND | 74% | / | / | / | Healthy | | | 100 | 7511 | m.7511T\>C | T7511C\-F4 | T7511C\-F4\-III10 | Fam | M | N | N | A | ND | 67% | / | / | / | Healthy | | | 101 | 7511 | m.7511T\>C | T7511C\-F4 | T7511C\-F4\-III11 | Fam | F | N | N | A | ND | 1 | / | / | / | Healthy | | | 102 | 7511 | m.7511T\>C | T7511C\-F4 | T7511C\-F4\-III12 | Fam | F | N | Y | A | 16 | 81% | / | / | / | Hearing loss | | | 103 | 7511 | m.7511T\>C | T7511C\-F5 | T7511C\-F5\-I2 | Uninf | F | N | Y | D | ND | / | / | / | / | Hearing loss | | | 104 | 7511 | m.7511T\>C | T7511C\-F5 | T7511C\-F5\-II1 | Fam | M | N | N | D | ND | / | / | / | / | Healthy | | | 105 | 7511 | m.7511T\>C | T7511C\-F5 | T7511C\-F5\-II2 | Fam | F | N | N | D | ND | / | / | / | / | Healthy | | | 106 | 7511 | m.7511T\>C | T7511C\-F5 | T7511C\-F5\-II4 | Fam | M | N | Y | D | ND | / | / | / | / | Hearing loss | | | 107 | 7511 | m.7511T\>C | T7511C\-F5 | T7511C\-F5\-II5 | Fam | F | N | N | D | ND | / | / | / | / | Healthy | | | 108 | 7511 | m.7511T\>C | T7511C\-F5 | T7511C\-F5\-II6 | Fam | F | N | N | D | ND | / | / | / | / | Healthy | | | 109 | 7511 | m.7511T\>C | T7511C\-F5 | T7511C\-F5\-II8 | Fam | M | N | N | D | ND | / | / | / | / | Healthy | | | 110 | 7511 | m.7511T\>C | T7511C\-F5 | T7511C\-F5\-II9 | Fam | F | N | Y | A | ND | / | / | / | / | Hearing loss | | | 111 | 7511 | m.7511T\>C | T7511C\-F5 | T7511C\-F5\-II10 | Fam | M | N | N | D | ND | / | / | / | / | Healthy | | | 112 | 7511 | m.7511T\>C | T7511C\-F5 | T7511C\-F5\-II11 | Fam | F | N | N | A | ND | / | / | / | / | Healthy | | | 113 | 7511 | m.7511T\>C | T7511C\-F5 | T7511C\-F5\-II12 | Fam | M | N | N | A | ND | / | / | / | / | Healthy | | | 114 | 7511 | m.7511T\>C | T7511C\-F5 | T7511C\-F5\-II13 | Fam | F | N | Y | A | 62 | Homo | / | / | / | Hearing loss | | | 115 | 7511 | m.7511T\>C | T7511C\-F5 | T7511C\-F5\-II15 | Fam | F | N | N | A | ND | / | / | / | / | Healthy | | | 116 | 7511 | m.7511T\>C | T7511C\-F5 | T7511C\-F5\-III1 | Fam | F | N | N | A | ND | / | / | / | / | Healthy | | | 117 | 7511 | m.7511T\>C | T7511C\-F5 | T7511C\-F5\-III2 | Fam | M | N | N | A | ND | / | / | / | / | Healthy | | | 118 | 7511 | m.7511T\>C | T7511C\-F5 | T7511C\-F5\-III3 | Fam | F | N | Y | A | 43 | Homo | / | / | / | Hearing loss | | | 119 | 7511 | m.7511T\>C | T7511C\-F5 | T7511C\-F5\-III5 | Fam | F | Y | Y | A | 31 | Homo | / | / | / | Hearing loss | | | 120 | 7511 | m.7511T\>C | T7511C\-F5 | T7511C\-F5\-III7 | Fam | M | N | Y | A | ND | / | / | / | / | Hearing loss | | | 121 | 7511 | m.7511T\>C | T7511C\-F5 | T7511C\-F5\-III9 | Fam | M | N | N | A | ND | / | / | / | / | Healthy | | | 122 | 7511 | m.7511T\>C | T7511C\-F5 | T7511C\-F5\-III10 | Fam | M | N | N | A | ND | / | / | / | / | Healthy | | | 123 | 7511 | m.7511T\>C | T7511C\-F5 | T7511C\-F5\-IV1 | Fam | M | N | N | A | ND | / | / | / | / | Healthy | | | 124 | 7511 | m.7511T\>C | T7511C\-F5 | T7511C\-F5\-IV2 | Fam | F | N | N | A | ND | / | / | / | / | Healthy | | | 125 | 7511 | m.7511T\>C | T7511C\-F5 | T7511C\-F5\-IV3 | Fam | M | N | N | A | ND | / | / | / | / | Healthy | | | 126 | 7511 | m.7511T\>C | T7511C\-F6 | T7511C\-F6\-P1 | Uninf | M | Y | Y | A | 6 | / | / | / | / | Hearing loss | | | 127 | 7511 | m.7511T\>C | T7511C\-F7 | T7511C\-F7\-I1 | Uninf | F | N | Y | D | ND | / | / | / | / | Hearing loss | | | 128 | 7511 | m.7511T\>C | T7511C\-F7 | T7511C\-F7\-II1 | Fam | F | N | Y | A | 14\~25 | Homo | / | / | / | Hearing loss | | | 129 | 7511 | m.7511T\>C | T7511C\-F7 | T7511C\-F7\-II2 | Fam | M | N | Y | A | 14\~25 | Homo | / | / | / | Hearing loss | | | 130 | 7511 | m.7511T\>C | T7511C\-F7 | T7511C\-F7\-II3 | Fam | F | N | Y | A | 14\~25 | Homo | / | / | / | Hearing loss | | | 131 | 7511 | m.7511T\>C | T7511C\-F7 | T7511C\-F7\-II4 | Fam | F | N | Y | A | 14\~25 | Homo | / | / | / | Hearing loss | | | 132 | 7511 | m.7511T\>C | T7511C\-F7 | T7511C\-F7\-II5 | Fam | F | N | N | A | 14\~25 | Homo | / | / | / | Healthy | | | 133 | 7511 | m.7511T\>C | T7511C\-F7 | T7511C\-F7\-II6 | Fam | F | N | Y | A | 14\~25 | Homo | / | / | / | Hearing loss | | | 134 | 7511 | m.7511T\>C | T7511C\-F7 | T7511C\-F7\-III1 | Fam | M | N | Y | A | 14\~25 | Homo | / | / | / | Hearing loss | | | 135 | 7511 | m.7511T\>C | T7511C\-F7 | T7511C\-F7\-III3 | Fam | F | Y | Y | A | 14\~25 | Homo | / | / | / | Hearing loss | | | 136 | 7511 | m.7511T\>C | T7511C\-F7 | T7511C\-F7\-III4 | Fam | M | N | N | A | 14\~25 | Homo | / | / | / | Healthy | | | 137 | 7511 | m.7511T\>C | T7511C\-F7 | T7511C\-F7\-III5 | Fam | M | N | Y | A | 14\~25 | Homo | / | / | / | Hearing loss | | | 138 | 7511 | m.7511T\>C | T7511C\-F8 | T7511C\-F8\-I2 | Uninf | F | N | Y | D | ND | / | / | / | / | Hearing loss | | | 139 | 7511 | m.7511T\>C | T7511C\-F8 | T7511C\-F8\-II1 | Fam | F | N | N | D | ND | / | / | / | / | Healthy | | | 140 | 7511 | m.7511T\>C | T7511C\-F8 | T7511C\-F8\-II2 | Fam | M | N | N | D | ND | / | / | / | / | Healthy | | | 141 | 7511 | m.7511T\>C | T7511C\-F8 | T7511C\-F8\-II3 | Fam | F | N | Y | A | ND | / | / | / | / | Hearing loss | | | 142 | 7511 | m.7511T\>C | T7511C\-F8 | T7511C\-F8\-II5 | Fam | M | N | N | D | ND | / | / | / | / | Healthy | | | 143 | 7511 | m.7511T\>C | T7511C\-F8 | T7511C\-F8\-II6 | Fam | M | N | N | D | ND | / | / | / | / | Healthy | | | 144 | 7511 | m.7511T\>C | T7511C\-F8 | T7511C\-F8\-II7 | Fam | M | N | N | D | ND | / | / | / | / | Healthy | | | 145 | 7511 | m.7511T\>C | T7511C\-F8 | T7511C\-F8\-II8 | Fam | F | N | Y | D | ND | / | / | / | / | Hearing loss | | | 146 | 7511 | m.7511T\>C | T7511C\-F8 | T7511C\-F8\-III1 | Fam | M | N | Y | A | ND | / | / | / | / | Hearing loss | | | 147 | 7511 | m.7511T\>C | T7511C\-F8 | T7511C\-F8\-III3 | Fam | F | N | Y | A | 13 | Homo | / | / | / | Hearing loss | | | 148 | 7511 | m.7511T\>C | T7511C\-F8 | T7511C\-F8\-III5 | Fam | F | Y | Y | A | 35 | Homo | / | / | / | Hearing loss | | | 149 | 7511 | m.7511T\>C | T7511C\-F8 | T7511C\-F8\-III7 | Fam | F | N | N | A | 39 | Homo | / | / | / | Healthy | | | 150 | 7511 | m.7511T\>C | T7511C\-F8 | T7511C\-F8\-IV2 | Fam | F | N | Y | A | 7 | Homo | / | / | / | Hearing loss | | | 151 | 7511 | m.7511T\>C | T7511C\-F8 | T7511C\-F8\-IV3 | Fam | F | N | Y | A | 5 | Homo | / | / | / | Hearing loss | | | 152 | 7511 | m.7511T\>C | T7511C\-F8 | T7511C\-F8\-IV4 | Fam | M | N | N | A | 22 | Homo | / | / | / | Healthy | | | 153 | 7511 | m.7511T\>C | T7511C\-F8 | T7511C\-F8\-IV5 | Fam | M | N | N | A | ND | / | / | / | / | Healthy | | | 154 | 7511 | m.7511T\>C | T7511C\-F8 | T7511C\-F8\-IV6 | Fam | F | N | Y | A | \<1 | Homo | / | / | / | Hearing loss | | | 155 | 7511 | m.7511T\>C | T7511C\-F9 | T7511C\-F9\-I2 | Uninf | F | N | Y | D | 3\.5 | 50% | / | / | / | Hearing loss | | | 156 | 7511 | m.7511T\>C | T7511C\-F9 | T7511C\-F9\-II1 | Fam | M | N | Y | A | ND | / | / | / | / | Hearing loss | | | 157 | 7511 | m.7511T\>C | T7511C\-F9 | T7511C\-F9\-II2 | Fam | M | N | N | A | 57 | 1 | / | / | / | Healthy | | | 158 | 7511 | m.7511T\>C | T7511C\-F9 | T7511C\-F9\-II5 | Fam | F | N | Y | A | 37 | 1 | / | / | / | Hearing loss | | | 159 | 7511 | m.7511T\>C | T7511C\-F9 | T7511C\-F9\-II6 | Fam | M | N | N | A | 54 | 1 | / | / | / | Healthy | | | 160 | 7511 | m.7511T\>C | T7511C\-F9 | T7511C\-F9\-II8 | Fam | M | N | Y | A | 40 | 1 | / | / | / | Hearing loss | | | 161 | 7511 | m.7511T\>C | T7511C\-F9 | T7511C\-F9\-II10 | Fam | M | N | N | A | ND | / | / | / | / | Healthy | | | 162 | 7511 | m.7511T\>C | T7511C\-F9 | T7511C\-F9\-II12 | Fam | F | N | Y | A | 2\.5 | 1 | / | / | / | Hearing loss | | | 163 | 7511 | m.7511T\>C | T7511C\-F9 | T7511C\-F9\-III8 | Fam | F | Y | Y | A | 3 | 1 | / | / | / | Hearing loss | | | 164 | 7511 | m.7511T\>C | T7511C\-F9 | T7511C\-F9\-III9 | Fam | F | N | Y | A | \<1 | 1 | / | / | / | Hearing loss | | | 165 | 7511 | m.7511T\>C | T7511C\-F9 | T7511C\-F9\-IV1 | Fam | M | N | N | A | ND | / | / | / | / | Healthy | | | 166 | 7511 | m.7511T\>C | T7511C\-F10 | T7511C\-F10\-I2 | Uninf | F | N | N | D | ND | / | / | / | / | Healthy | | | 167 | 7511 | m.7511T\>C | T7511C\-F10 | T7511C\-F10\-II2 | Fam | F | N | Y | D | ND | / | / | / | / | Hearing loss | | | 168 | 7511 | m.7511T\>C | T7511C\-F10 | T7511C\-F10\-II3 | Fam | M | N | Y | A | 27 | Homo | / | / | / | Hearing loss | | | 169 | 7511 | m.7511T\>C | T7511C\-F10 | T7511C\-F10\-II5 | Fam | M | N | Y | D | ND | / | / | / | / | Hearing loss | | | 170 | 7511 | m.7511T\>C | T7511C\-F10 | T7511C\-F10\-III1 | Fam | M | Y | Y | A | 7 | Homo | / | / | / | Hearing loss | | | 171 | 7511 | m.7511T\>C | T7511C\-F10 | T7511C\-F10\-III3 | Fam | M | N | N | D | ND | / | / | / | / | Healthy | | | 172 | 7511 | m.7511T\>C | T7511C\-F10 | T7511C\-F10\-III5 | Fam | M | N | Y | A | ND | / | / | / | / | Hearing loss | | | 173 | 7511 | m.7511T\>C | T7511C\-F10 | T7511C\-F10\-III7 | Fam | M | N | N | A | 64 | Homo | / | / | / | Healthy | | | 174 | 7511 | m.7511T\>C | T7511C\-F10 | T7511C\-F10\-III10 | Fam | F | N | N | A | 60 | Homo | / | / | / | Healthy | | | 175 | 7511 | m.7511T\>C | T7511C\-F10 | T7511C\-F10\-IV9 | Fam | M | N | Y | A | 7 | Homo | / | / | / | Hearing loss | | For abbreviations and other usage instructions, please see [Mitofam Info](https://mitofam.com/doc/385/).
Haoying Chen
2026年6月22日 19:34
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