| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| MT | m.5774_14768del | CA2580610836 | |||
| MT | m.5780_14107del | CA2580610932 | |||
| MT | m.5782_13922del | CA250413 | ClinVar | ||
| MT | m.5788_13923del | CA2580618295 | |||
| MT | m.5794_14876del | CA250414 | ClinVar | ||
| MT | m.6005_11222del | CA645373331 | ClinVar | ||
| MT | m.6470_15588del | CA645373332 | ClinVar | ||
| MT | m.7129_13991del | CA645373333 | ClinVar | ||
| MT | m.7731_11256del | CA645373334 | ClinVar | ||
| MT | m.8290_13040del | CA645373335 | ClinVar | ||
| MT | m.8350_13450del | CA915952048 | ClinVar | ||
| MT | m.8483_13459del | CA645373336 | ClinVar | ||
| MT | m.8480_13440del | CA915952050 | ClinVar | ||
| MT | m.8587_12967del | CA645373337 | ClinVar | ||
| MT | m.8815_13722del | CA645373338 | ClinVar | ||
| MT | m.8839_14895del | CA645373339 | ClinVar | ||
| MT | m.8942C>A | CA414799081 | MT-ATP6 | c.416C>A (p.Pro139His) | |
| MT | m.8942C= | CA2573330582 | MT-ATP6 | c.416C= (p.Pro139=) | |
| MT | m.8942C>G | CA414799083 | MT-ATP6 | c.416C>G (p.Pro139Arg) | |
| MT | m.8942C>T | CA414799086 | MT-ATP6 | c.416C>T (p.Pro139Leu) | |
| MT | m.8943C>A | CA913180876 | MT-ATP6 | c.417C>A (p.Pro139=) | |
| MT | m.8943C= | CA2499566001 | MT-ATP6 | c.417C= (p.Pro139=) | |
| MT | m.8943C>G | CA913180877 | MT-ATP6 | c.417C>G (p.Pro139=) | |
| MT | m.8943C>T | CA16603352 | MT-ATP6 | c.417C>T (p.Pro139=) | ClinVar dbSNP |
| MT | m.8944A= | CA2499566002 | MT-ATP6 | c.418A= (p.Ile140=) | |
| MT | m.8944A>C | CA414799090 | MT-ATP6 | c.418A>C (p.Ile140Leu) | |
| MT | m.8944A>G | CA414799093 | MT-ATP6 | c.418A>G (p.Ile140Val) | ClinVar dbSNP |
| MT | m.8944A>T | CA414799095 | MT-ATP6 | c.418A>T (p.Ile140Leu) | |
| MT | m.8945T>A | CA414799100 | MT-ATP6 | c.419T>A (p.Ile140Lys) | |
| MT | m.8945T>C | CA414799101 | MT-ATP6 | c.419T>C (p.Ile140Thr) | dbSNP |
| MT | m.8945T>G | CA414799106 | MT-ATP6 | c.419T>G (p.Ile140Arg) | |
| MT | m.8945T= | CA2499566003 | MT-ATP6 | c.419T= (p.Ile140=) | |
| MT | m.8946A= | CA2499566004 | MT-ATP6 | c.420A= (p.Ile140=) | |
| MT | m.8946A>C | CA913180888 | MT-ATP6 | c.420A>C (p.Ile140=) | |
| MT | m.8946A>G | CA337098124 | MT-ATP6 | c.420A>G (p.Ile140Met) | dbSNP |
| MT | m.8946A>T | CA913180885 | MT-ATP6 | c.420A>T (p.Ile140=) | ClinVar dbSNP |
| MT | m.8947C>A | CA414799110 | MT-ATP6 | c.421C>A (p.Leu141Ile) | |
| MT | m.8947C= | CA2499566005 | MT-ATP6 | c.421C= (p.Leu141=) | |
| MT | m.8947C>G | CA414799113 | MT-ATP6 | c.421C>G (p.Leu141Val) | |
| MT | m.8947C>T | CA913180890 | MT-ATP6 | c.421C>T (p.Leu141=) | dbSNP |
| MT | m.8948T>A | CA414799119 | MT-ATP6 | c.422T>A (p.Leu141Gln) | |
| MT | m.8948T>C | CA414799121 | MT-ATP6 | c.422T>C (p.Leu141Pro) | |
| MT | m.8948T>G | CA414799116 | MT-ATP6 | c.422T>G (p.Leu141Arg) | |
| MT | m.8948T= | CA2573330590 | MT-ATP6 | c.422T= (p.Leu141=) | |
| MT | m.8949A= | CA2513262467 | MT-ATP6 | c.423A= (p.Leu141=) | |
| MT | m.8949A>C | CA913180899 | MT-ATP6 | c.423A>C (p.Leu141=) | |
| MT | m.8949A>G | CA913180898 | MT-ATP6 | c.423A>G (p.Leu141=) | |
| MT | m.8949A>T | CA913180897 | MT-ATP6 | c.423A>T (p.Leu141=) | |
| MT | m.8950G>A | CA414799126 | MT-ATP6 | c.424G>A (p.Val142Ile) | ClinVar dbSNP COSMIC COSMIC |
| MT | m.8950G>C | CA414799130 | MT-ATP6 | c.424G>C (p.Val142Leu) |