A4300G

# General Information

| **Position** | **4300** | **Variant** | **m.4300A\>G** | **Locus** | **MT\-TI** | **RNA** | **tRNA Ile** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **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.4300A\>G** variant in MT\-TI has been reported in 5 pedigrees. To date, 106 carriers have been reported. Reported mutation loads ranged from 0% to 100%, with a median of 82% overall; affected carriers showed mutation loads from 13% to 100%, with a median of 92%; unaffected carriers showed mutation loads from 0% to 100%, with a median of 72\.5%. The main clinical manifestations among affected carriers included hypertrophic cardiomyopathy, left ventricular hypertrophy, cardiomyopathy, pes cavus, hypomagnesaemia, cardiac death, dyspnea, chest pain, and other features.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 4300 | m.4300A\>G | [A4300G\-F1](https://mitofam.com/doc/609/) | USA | Cardiomyopathy | 12 | 7 | 1995 | [7646516](https://pubmed.ncbi.nlm.nih.gov/7646516/) |  |
| 2 | 4300 | m.4300A\>G | [A4300G\-F2](https://mitofam.com/doc/610/) | Italy | Hypertrophic cardiomyopathy | 21 | 13 | 1998 | [10065021](https://pubmed.ncbi.nlm.nih.gov/10065021/) | Carrying Arg249Gln(MHC) |
| 3 | 4300 | m.4300A\>G | [A4300G\-F3 ](https://mitofam.com/doc/611/)| Italy | Hypertrophic cardiomyopathy | 10 | 0 | 1998 | [10065021](https://pubmed.ncbi.nlm.nih.gov/10065021/) | Carrying Arg249Gln(MHC) |
| 4 | 4300 | m.4300A\>G | [A4300G\-F4](https://mitofam.com/doc/612/) | Italy | Hypertrophic cardiomyopathy | 43 | 13 | 1999 | [10334428](https://pubmed.ncbi.nlm.nih.gov/10334428/) |  |
| 5 | 4300 | m.4300A\>G | A4300G\-F5 | China | Cardiomyopathy | 2 | 0 | 2021 | <https://d.wanfangdata.com.cn/periodical/lcekzz202107016> |  |

# 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 | 4300 | m.4300A\>G | A4300G\-F1 | A4300G\-F1\-I1 | Uninf | F | N | N | A | ND | / | / | / | / | Healthy |  |
| 2 | 4300 | m.4300A\>G | A4300G\-F1 | A4300G\-F1\-II1 | Fam | M | N | N | A | ND | / | / | / | / | Healthy |  |
| 3 | 4300 | m.4300A\>G | A4300G\-F1 | A4300G\-F1\-II2 | Fam | F | N | N | D | ND | / | / | / | / | Healthy |  |
| 4 | 4300 | m.4300A\>G | A4300G\-F1 | A4300G\-F1\-II3 | Fam | F | N | N | A | ND | / | / | / | / | Healthy |  |
| 5 | 4300 | m.4300A\>G | A4300G\-F1 | A4300G\-F1\-II4 | Fam | M | N | N | A | ND | / | / | / | / | Healthy |  |
| 6 | 4300 | m.4300A\>G | A4300G\-F1 | A4300G\-F1\-III1 | Fam | F | N | Y | A | ND | / | / | / | / | Cardiomyopathy |  |
| 7 | 4300 | m.4300A\>G | A4300G\-F1 | A4300G\-F1\-III2 | Fam | F | N | Y | D | ND | / | / | / | / | Cardiomyopathy |  |
| 8 | 4300 | m.4300A\>G | A4300G\-F1 | A4300G\-F1\-III3 | Fam | M | N | N | A | ND | / | / | / | / | Healthy |  |
| 9 | 4300 | m.4300A\>G | A4300G\-F1 | A4300G\-F1\-III4 | Fam | F | N | N | A | ND | 88% | / | / | / | Healthy |  |
| 10 | 4300 | m.4300A\>G | A4300G\-F1 | A4300G\-F1\-III5 | Fam | F | N | Y | D | ND | / | / | / | / | Cardiomyopathy |  |
| 11 | 4300 | m.4300A\>G | A4300G\-F1 | A4300G\-F1\-III6 | Fam | F | N | Y | A | ND | 95% | / | / | / | Cardiomyopathy |  |
| 12 | 4300 | m.4300A\>G | A4300G\-F1 | A4300G\-F1\-III7 | Fam | F | N | N | A | ND | 40% | / | / | / | Healthy |  |
| 13 | 4300 | m.4300A\>G | A4300G\-F1 | A4300G\-F1\-III8 | Fam | M | N | Y | A | ND | 82% | / | / | / | Cardiomyopathy |  |
| 14 | 4300 | m.4300A\>G | A4300G\-F1 | A4300G\-F1\-IV1 | Fam | M | Y | Y | A | ND | 95% | / | / | / | Cardiomyopathy |  |
| 15 | 4300 | m.4300A\>G | A4300G\-F1 | A4300G\-F1\-IV2 | Fam | F | N | Y | A | ND | 96% | / | / | / | Cardiomyopathy |  |
| 16 | 4300 | m.4300A\>G | A4300G\-F1 | A4300G\-F1\-IV3 | Fam | F | N | N | A | ND | / | / | / | / | Healthy |  |
| 17 | 4300 | m.4300A\>G | A4300G\-F1 | A4300G\-F1\-IV4 | Fam | M | N | Y | A | ND | / | / | / | / | Cardiomyopathy |  |
| 18 | 4300 | m.4300A\>G | A4300G\-F1 | A4300G\-F1\-IV5 | Fam | M | N | N | A | ND | / | / | / | / | Healthy |  |
| 19 | 4300 | m.4300A\>G | A4300G\-F1 | A4300G\-F1\-IV6 | Fam | M | N | N | A | ND | / | / | / | / | Healthy |  |
| 20 | 4300 | m.4300A\>G | A4300G\-F1 | A4300G\-F1\-IV7 | Fam | F | N | N | A | ND | / | / | / | / | Healthy |  |
| 21 | 4300 | m.4300A\>G | A4300G\-F1 | A4300G\-F1\-IV8 | Fam | F | N | N | A | ND | 0 | / | / | / | Healthy |  |
| 22 | 4300 | m.4300A\>G | A4300G\-F1 | A4300G\-F1\-V1 | Fam | M | N | N | A | ND | / | / | / | / | Healthy |  |
| 23 | 4300 | m.4300A\>G | A4300G\-F1 | A4300G\-F1\-V2 | Fam | M | N | N | A | ND | / | / | / | / | Healthy |  |
| 24 | 4300 | m.4300A\>G | A4300G\-F2 | A4300G\-F2\-I2 | Uninf | F | N | N | D | ND | / | / | / | / | Healthy | Carrying Arg249Gln(MHC) |
| 25 | 4300 | m.4300A\>G | A4300G\-F2 | A4300G\-F2\-II2 | Fam | F | N | N | D | ND | / | / | / | / | Healthy | Carrying Arg249Gln(MHC) |
| 26 | 4300 | m.4300A\>G | A4300G\-F2 | A4300G\-F2\-II3 | Fam | M | N | N | D | ND | / | / | / | / | Healthy | Carrying Arg249Gln(MHC) |
| 27 | 4300 | m.4300A\>G | A4300G\-F2 | A4300G\-F2\-II4 | Fam | M | N | N | D | ND | / | / | / | / | Healthy | Carrying Arg249Gln(MHC) |
| 28 | 4300 | m.4300A\>G | A4300G\-F2 | A4300G\-F2\-II6 | Fam | F | N | Y | D | ND | / | / | / | / | Hypertrophic cardiomyopathy | Carrying Arg249Gln(MHC) |
| 29 | 4300 | m.4300A\>G | A4300G\-F2 | A4300G\-F2\-II8 | Fam | F | N | N | D | ND | / | / | / | / | Healthy | Carrying Arg249Gln(MHC) |
| 30 | 4300 | m.4300A\>G | A4300G\-F2 | A4300G\-F2\-III1 | Fam | F | N | Y | D | ND | / | / | / | / | Hypertrophic cardiomyopathy,congestive heart failure | Carrying Arg249Gln(MHC) |
| 31 | 4300 | m.4300A\>G | A4300G\-F2 | A4300G\-F2\-III3 | Fam | M | N | Y | D | ND | / | / | / | / | Hypertrophic cardiomyopathy,congestive heart failure | Carrying Arg249Gln(MHC) |
| 32 | 4300 | m.4300A\>G | A4300G\-F2 | A4300G\-F2\-III5 | Fam | M | N | N | A | 70 | 65% | / | / | / | Right bundle branch block, left ventricular hypertrophy,hypertension, COPD | Carrying Arg249Gln(MHC) |
| 33 | 4300 | m.4300A\>G | A4300G\-F2 | A4300G\-F2\-III7 | Fam | F | N | Y | D | ND | / | / | / | / | Hypertrophic cardiomyopathy | Carrying Arg249Gln(MHC) |
| 34 | 4300 | m.4300A\>G | A4300G\-F2 | A4300G\-F2\-III9 | Fam | F | N | N | A | 55 | 70% | / | / | / | Pes cavus | Carrying Arg249Gln(MHC) |
| 35 | 4300 | m.4300A\>G | A4300G\-F2 | A4300G\-F2\-III11 | Fam | M | N | Y | A | 67 | 88% | / | / | / | Hypertrophic cardiomyopathy,hypomagnesaemia,pes cavus,left ventricular hypertrophy,stroke | Carrying Arg249Gln(MHC) |
| 36 | 4300 | m.4300A\>G | A4300G\-F2 | A4300G\-F2\-III12 | Fam | F | N | N | D | ND | / | / | / | / | Healthy | Carrying Arg249Gln(MHC) |
| 37 | 4300 | m.4300A\>G | A4300G\-F2 | A4300G\-F2\-III14 | Fam | M | N | N | A | 62 | 58% | / | / | / | Healthy | Carrying Arg249Gln(MHC) |
| 38 | 4300 | m.4300A\>G | A4300G\-F2 | A4300G\-F2\-III15 | Fam | F | N | Y | D | ND | / | / | / | / | Hypertrophic cardiomyopathy | Carrying Arg249Gln(MHC) |
| 39 | 4300 | m.4300A\>G | A4300G\-F2 | A4300G\-F2\-III17 | Fam | F | N | Y | D | ND | / | / | / | / | Hypertrophic cardiomyopathy | Carrying Arg249Gln(MHC) |
| 40 | 4300 | m.4300A\>G | A4300G\-F2 | A4300G\-F2\-IV1 | Fam | M | N | Y | A | 46 | 90% | 82% | / | 95%(heart) | Hypertrophic cardiomyopathy,pes cavus,left ventricular hypertrophy,persistent hypomagnesaemia | Carrying Arg249Gln(MHC) |
| 41 | 4300 | m.4300A\>G | A4300G\-F2 | A4300G\-F2\-IV3 | Fam | M | N | N | A | 45 | 70% | / | / | / | Pes cavus | Carrying Arg249Gln(MHC) |
| 42 | 4300 | m.4300A\>G | A4300G\-F2 | A4300G\-F2\-IV5 | Fam | M | N | Y | A | 42 | 92% | / | / | / | Hypertrophic cardiomyopathy,pes cavus,persistent hypomagnesaemia | Carrying Arg249Gln(MHC) |
| 43 | 4300 | m.4300A\>G | A4300G\-F2 | A4300G\-F2\-IV7 | Fam | F | N | N | A | 39 | 70% | / | / | / | Pes cavus,kidney malformation, transient amaurosis | Carrying Arg249Gln(MHC) |
| 44 | 4300 | m.4300A\>G | A4300G\-F2 | A4300G\-F2\-IV9 | Fam | M | Y | Y | A | 44 | 95% | 85% | / | 98%(heart) | Hypertrophic cardiomyopathy,left ventricular hypertrophy,chronic renal failure after heart transplantation | Carrying Arg249Gln(MHC) |
| 45 | 4300 | m.4300A\>G | A4300G\-F2 | A4300G\-F2\-IV11 | Fam | F | N | N | A | 36 | 65% | / | / | / | Pes cavus,incomplete right bundle branch block | Carrying Arg249Gln(MHC) |
| 46 | 4300 | m.4300A\>G | A4300G\-F2 | A4300G\-F2\-IV13 | Fam | M | N | N | A | 36 | 50% | / | / | / | Pes cavus | Carrying Arg249Gln(MHC) |
| 47 | 4300 | m.4300A\>G | A4300G\-F2 | A4300G\-F2\-IV15 | Fam | F | N | N | A | 31 | 55% | / | / | / | Pes cavus | Carrying Arg249Gln(MHC) |
| 48 | 4300 | m.4300A\>G | A4300G\-F2 | A4300G\-F2\-IV17 | Fam | F | N | N | D | ND | / | / | / | / | Healthy | Carrying Arg249Gln(MHC) |
| 49 | 4300 | m.4300A\>G | A4300G\-F2 | A4300G\-F2\-IV18 | Fam | M | N | Y | D | 58 | 62% | / | / | / | Hypertrophic cardiomyopathy,pes cavus,left ventricular hypertrophy,hypomagnesaemia | Carrying Arg249Gln(MHC) |
| 50 | 4300 | m.4300A\>G | A4300G\-F2 | A4300G\-F2\-IV19 | Fam | M | N | Y | A | 56 | 65% | / | / | / | Hypertrophic cardiomyopathy,pes cavus,gout,hypomagnesaemia | Carrying Arg249Gln(MHC) |
| 51 | 4300 | m.4300A\>G | A4300G\-F2 | A4300G\-F2\-IV20 | Fam | M | N | Y | A | 50 | 60% | / | / | / | Hypertrophic cardiomyopathy,pes cavus,left ventricular hypertrophy,mild hypertension,hypomagnesaemia | Carrying Arg249Gln(MHC) |
| 52 | 4300 | m.4300A\>G | A4300G\-F2 | A4300G\-F2\-V1 | Fam | M | N | N | A | 18 | / | / | / | / | Incomplete right bundle branch block | Carrying Arg249Gln(MHC) |
| 53 | 4300 | m.4300A\>G | A4300G\-F2 | A4300G\-F2\-V2 | Fam | F | N | N | A | 14 | / | / | / | / | Healthy | Carrying Arg249Gln(MHC) |
| 54 | 4300 | m.4300A\>G | A4300G\-F2 | A4300G\-F2\-V3 | Fam | M | N | N | A | 15 | / | / | / | / | Healthy | Carrying Arg249Gln(MHC) |
| 55 | 4300 | m.4300A\>G | A4300G\-F2 | A4300G\-F2\-V4 | Fam | M | N | N | A | 15 | / | / | / | / | Healthy | Carrying Arg249Gln(MHC) |
| 56 | 4300 | m.4300A\>G | A4300G\-F2 | A4300G\-F2\-V5 | Fam | M | N | N | A | 13 | / | / | / | / | Bilateral pes contortus | Carrying Arg249Gln(MHC) |
| 57 | 4300 | m.4300A\>G | A4300G\-F2 | A4300G\-F2\-V6 | Fam | F | N | N | A | 25 | 78% | / | / | / | Healthy | Carrying Arg249Gln(MHC) |
| 58 | 4300 | m.4300A\>G | A4300G\-F2 | A4300G\-F2\-V7 | Fam | M | N | N | A | 17 | 70% | / | / | / | Healthy | Carrying Arg249Gln(MHC) |
| 59 | 4300 | m.4300A\>G | A4300G\-F2 | A4300G\-F2\-V8 | Fam | M | N | N | A | 15 | 75% | / | / | / | Healthy | Carrying Arg249Gln(MHC) |
| 60 | 4300 | m.4300A\>G | A4300G\-F2 | A4300G\-F2\-V9 | Fam | M | N | N | A | ND | / | / | / | / | Healthy | Carrying Arg249Gln(MHC) |
| 61 | 4300 | m.4300A\>G | A4300G\-F2 | A4300G\-F2\-V10 | Fam | F | N | N | A | 12 | / | / | / | / | Healthy | Carrying Arg249Gln(MHC) |
| 62 | 4300 | m.4300A\>G | A4300G\-F2 | A4300G\-F2\-V11 | Fam | M | N | N | A | 18 | 65% | / | / | / | Left renal cyst | Carrying Arg249Gln(MHC) |
| 63 | 4300 | m.4300A\>G | A4300G\-F2 | A4300G\-F2\-V12 | Fam | F | N | N | A | 10 | 70% | / | / | / | Healthy | Carrying Arg249Gln(MHC) |
| 64 | 4300 | m.4300A\>G | A4300G\-F3 | A4300G\-F3\-I2 | Uninf | F | N | N | D | 57 | / | / | / | / | Healthy | Carrying Arg249Gln(MHC) |
| 65 | 4300 | m.4300A\>G | A4300G\-F3 | A4300G\-F3\-II2 | Fam | F | N | N | D | 54 | 75% | / | / | / | Healthy | Carrying Arg249Gln(MHC) |
| 66 | 4300 | m.4300A\>G | A4300G\-F3 | A4300G\-F3\-II3 | Fam | F | N | N | A | 51 | 70% | / | / | / | Mild mitral valve prolapse | Carrying Arg249Gln(MHC) |
| 67 | 4300 | m.4300A\>G | A4300G\-F3 | A4300G\-F3\-II5 | Fam | F | N | N | A | 58 | 68% | / | / | / | Healthy | Carrying Arg249Gln(MHC) |
| 68 | 4300 | m.4300A\>G | A4300G\-F3 | A4300G\-F3\-II7 | Fam | F | N | N | A | 42 | 73% | / | / | / | Healthy | Carrying Arg249Gln(MHC) |
| 69 | 4300 | m.4300A\>G | A4300G\-F3 | A4300G\-F3\-III1 | Fam | M | Y | Y | A | 31 | 76% | 85% | / | 95%(heart) | Hypertrophic cardiomyopathy,left ventricular hypertrophy,cardiac transplantation | Carrying Arg249Gln(MHC) |
| 70 | 4300 | m.4300A\>G | A4300G\-F3 | A4300G\-F3\-III2 | Fam | F | N | N | A | 21 | 82% | / | / | / | Healthy | Carrying Arg249Gln(MHC) |
| 71 | 4300 | m.4300A\>G | A4300G\-F3 | A4300G\-F3\-III3 | Fam | F | N | N | A | 30 | 72% | / | / | / | Healthy | Carrying Arg249Gln(MHC) |
| 72 | 4300 | m.4300A\>G | A4300G\-F3 | A4300G\-F3\-III4 | Fam | M | N | N | A | 31 | 80% | / | / | / | Healthy | Carrying Arg249Gln(MHC) |
| 73 | 4300 | m.4300A\>G | A4300G\-F3 | A4300G\-F3\-III5 | Fam | M | N | N | A | 16 | 78% | / | / | / | Healthy | Carrying Arg249Gln(MHC) |
| 74 | 4300 | m.4300A\>G | A4300G\-F3 | A4300G\-F3\-III6 | Fam | M | N | N | A | 48 | 7% | / | / | / | Healthy | Carrying Arg249Gln(MHC) |
| 75 | 4300 | m.4300A\>G | A4300G\-F4 | A4300G\-F4\-II1 | Fam | F | N | N | A | 83 | 62% | / | / | / | Healthy |  |
| 76 | 4300 | m.4300A\>G | A4300G\-F4 | A4300G\-F4\-II7 | Fam | F | N | Y | D | 41 | / | / | / | / | Cardiac death |  |
| 77 | 4300 | m.4300A\>G | A4300G\-F4 | A4300G\-F4\-III1 | Fam | F | N | N | A | 56 | 88% | / | / | / | Healthy |  |
| 78 | 4300 | m.4300A\>G | A4300G\-F4 | A4300G\-F4\-III2 | Fam | F | N | Y | A | 54 | / | / | / | / | Cardiac death |  |
| 79 | 4300 | m.4300A\>G | A4300G\-F4 | A4300G\-F4\-III3 | Fam | F | N | N | A | 54 | 95% | / | / | / | Dyspnea,left ventricular hypertrophy |  |
| 80 | 4300 | m.4300A\>G | A4300G\-F4 | A4300G\-F4\-III4 | Fam | F | N | N | A | 51 | 40% | / | / | / | Healthy |  |
| 81 | 4300 | m.4300A\>G | A4300G\-F4 | A4300G\-F4\-III5 | Fam | M | N | N | A | 56 | 82% | / | / | / | Dyspnea,left ventricular hypertrophy |  |
| 82 | 4300 | m.4300A\>G | A4300G\-F4 | A4300G\-F4\-III13 | Fam | F | N | Y | A | 45 | 1 | / | / | / | Hypertrophic cardiomyopathy,left ventricular hypertrophy |  |
| 83 | 4300 | m.4300A\>G | A4300G\-F4 | A4300G\-F4\-III14 | Fam | F | N | N | A | 43 | 1 | / | / | / | Healthy |  |
| 84 | 4300 | m.4300A\>G | A4300G\-F4 | A4300G\-F4\-III15 | Fam | F | N | Y | A | 42 | 92% | / | / | / | Hypertrophic cardiomyopathy,dyspnea,chest pain,left ventricular hypertrophy |  |
| 85 | 4300 | m.4300A\>G | A4300G\-F4 | A4300G\-F4\-III16 | Fam | F | N | Y | D | 33 | / | / | / | / | Cardiac death |  |
| 86 | 4300 | m.4300A\>G | A4300G\-F4 | A4300G\-F4\-III23 | Fam | M | N | N | A | 44 | / | / | / | / | Lung cancer,left ventricular hypertrophy |  |
| 87 | 4300 | m.4300A\>G | A4300G\-F4 | A4300G\-F4\-IV1 | Fam | M | Y | Y | A | 37 | 95% | 99% | / | 99%(heart) | Hypertrophic cardiomyopathy,left ventricular hypertrophy |  |
| 88 | 4300 | m.4300A\>G | A4300G\-F4 | A4300G\-F4\-IV2 | Fam | F | N | N | A | 29 | 87% | / | / | / | Healthy |  |
| 89 | 4300 | m.4300A\>G | A4300G\-F4 | A4300G\-F4\-IV3 | Fam | F | N | Y | A | 36 | 95% | / | / | / | Hypertrophic cardiomyopathy,dyspnea,left ventricular hypertrophy |  |
| 90 | 4300 | m.4300A\>G | A4300G\-F4 | A4300G\-F4\-IV5 | Fam | M | N | Y | A | 33 | / | / | / | / | Hypertrophic cardiomyopathy,chest pain,left ventricular hypertrophy |  |
| 91 | 4300 | m.4300A\>G | A4300G\-F4 | A4300G\-F4\-IV7 | Fam | F | N | N | A | 23 | 92% | / | / | / | Healthy |  |
| 92 | 4300 | m.4300A\>G | A4300G\-F4 | A4300G\-F4\-IV8 | Fam | M | N | Y | A | 19 | 13% | / | / | / | Hypertrophic cardiomyopathy,left ventricular hypertrophy |  |
| 93 | 4300 | m.4300A\>G | A4300G\-F4 | A4300G\-F4\-IV9 | Fam | F | N | Y | A | 28 | 76% | / | / | / | Hypertrophic cardiomyopathy,dyspnea,left ventricular hypertrophy |  |
| 94 | 4300 | m.4300A\>G | A4300G\-F4 | A4300G\-F4\-IV20 | Fam | M | N | Y | A | 25 | 94% | / | / | / | Hypertrophic cardiomyopathy,left ventricular hypertrophy |  |
| 95 | 4300 | m.4300A\>G | A4300G\-F4 | A4300G\-F4\-IV22 | Fam | F | N | N | A | 24 | 1 | / | / | / | Healthy |  |
| 96 | 4300 | m.4300A\>G | A4300G\-F4 | A4300G\-F4\-IV23 | Fam | M | N | Y | A | 23 | 90% | / | / | / | Hypertrophic cardiomyopathy,left ventricular hypertrophy |  |
| 97 | 4300 | m.4300A\>G | A4300G\-F4 | A4300G\-F4\-IV24 | Fam | F | N | N | A | 24 | 93% | / | / | / | Healthy |  |
| 98 | 4300 | m.4300A\>G | A4300G\-F4 | A4300G\-F4\-IV25 | Fam | F | N | N | A | 25 | 95% | / | / | / | Healthy |  |
| 99 | 4300 | m.4300A\>G | A4300G\-F4 | A4300G\-F4\-IV26 | Fam | F | N | N | A | 16 | / | / | / | / | Healthy |  |
| 100 | 4300 | m.4300A\>G | A4300G\-F4 | A4300G\-F4\-IV27 | Fam | M | N | N | A | 20 | / | / | / | / | Healthy |  |
| 101 | 4300 | m.4300A\>G | A4300G\-F4 | A4300G\-F4\-V1 | Fam | M | N | N | A | 10 | / | / | / | / | Healthy |  |
| 102 | 4300 | m.4300A\>G | A4300G\-F4 | A4300G\-F4\-V2 | Fam | M | N | N | A | 5 | / | / | / | / | Healthy |  |
| 103 | 4300 | m.4300A\>G | A4300G\-F4 | A4300G\-F4\-V5 | Fam | F | N | N | A | 10 | 88% | / | / | / | Healthy |  |
| 104 | 4300 | m.4300A\>G | A4300G\-F4 | A4300G\-F4\-V6 | Fam | F | N | N | A | 12 | 93% | / | / | / | Healthy |  |
| 105 | 4300 | m.4300A\>G | A4300G\-F4 | A4300G\-F4\-V14 | Fam | F | N | Y | A | 7 | / | / | / | / | Hypertrophic cardiomyopathy,left ventricular hypertrophy |  |
| 106 | 4300 | m.4300A\>G | A4300G\-F5 | A4300G\-F5\-P1 | Uninf | M | Y | Y | A | 15 months | 99\.85% | / | / | / | Cardiomyopathy,heart failure,pericardial effusion,epilepsy,hypomagnesemia,occasional atrial premature contractions |  |

For abbreviations and other usage instructions, please see [Mitofam Info](https://mitofam.com/doc/385/).