UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| MT | m.5794_14876del | CA250414 | ClinVar | ||
| MT | m.6470_15588del | CA645373332 | ClinVar | ||
| MT | m.8839_14895del | CA645373339 | ClinVar | ||
| MT | m.9062_16052del | CA2580618296 | |||
| MT | m.10106_15067del | CA645373340 | ClinVar | ||
| MT | m.10775_14941del | CA2740090229 | ClinVar | ||
| MT | m.10950_15540del | CA2580102079 | ClinVar | ||
| MT | m.11263_15374del | CA645373341 | ClinVar | ||
| MT | m.14792C>A | CA913172100 | MT-CYB | c.46C>A (p.His16Asn) | |
| MT | m.14792C= | CA2499568650 | MT-CYB | c.46C= (p.His16=) | |
| MT | m.14792C>G | CA913172099 | MT-CYB | c.46C>G (p.His16Asp) | |
| MT | m.14792C>T | CA913172101 | MT-CYB | c.46C>T (p.His16Tyr) | ClinVar dbSNP |
| MT | m.14793A= | CA2499568651 | MT-CYB | c.47A= (p.His16=) | |
| MT | m.14793A>C | CA913172103 | MT-CYB | c.47A>C (p.His16Pro) | |
| MT | m.14793A>G | CA337100162 | MT-CYB | c.47A>G (p.His16Arg) | ClinVar dbSNP |
| MT | m.14793A>T | CA913172102 | MT-CYB | c.47A>T (p.His16Leu) | |
| MT | m.14794C>A | CA913172104 | MT-CYB | c.48C>A (p.His16Gln) | |
| MT | m.14794C= | CA2499568652 | MT-CYB | c.48C= (p.His16=) | |
| MT | m.14794C>G | CA913172105 | MT-CYB | c.48C>G (p.His16Gln) | |
| MT | m.14794C>T | CA913172106 | MT-CYB | c.48C>T (p.His16=) | dbSNP |
| MT | m.14795T>A | CA913172107 | MT-CYB | c.49T>A (p.Ser17Thr) | |
| MT | m.14795T>C | CA913172109 | MT-CYB | c.49T>C (p.Ser17Pro) | ClinVar dbSNP |
| MT | m.14795T>G | CA913172108 | MT-CYB | c.49T>G (p.Ser17Ala) | |
| MT | m.14795T= | CA2499568653 | MT-CYB | c.49T= (p.Ser17=) | |
| MT | m.14796C>A | CA913172112 | MT-CYB | c.50C>A (p.Ser17Ter) | |
| MT | m.14796C= | CA2573327921 | MT-CYB | c.50C= (p.Ser17=) | |
| MT | m.14796C>G | CA913172111 | MT-CYB | c.50C>G (p.Ser17Ter) | |
| MT | m.14796C>T | CA913172110 | MT-CYB | c.50C>T (p.Ser17Leu) | |
| MT | m.14797A= | CA2573327923 | MT-CYB | c.51A= (p.Ser17=) | |
| MT | m.14797A>C | CA913172115 | MT-CYB | c.51A>C (p.Ser17=) | |
| MT | m.14797A>G | CA913172114 | MT-CYB | c.51A>G (p.Ser17=) | |
| MT | m.14797A>T | CA913172113 | MT-CYB | c.51A>T (p.Ser17=) | |
| MT | m.14798T>A | CA913172117 | MT-CYB | c.52T>A (p.Phe18Ile) | |
| MT | m.14798T>C | CA337100164 | MT-CYB | c.52T>C (p.Phe18Leu) | ClinVar dbSNP |
| MT | m.14798T>G | CA913172116 | MT-CYB | c.52T>G (p.Phe18Val) | |
| MT | m.14798T= | CA2499568654 | MT-CYB | c.52T= (p.Phe18=) | |
| MT | m.14799T>A | CA913172118 | MT-CYB | c.53T>A (p.Phe18Tyr) | |
| MT | m.14799T>C | CA913172119 | MT-CYB | c.53T>C (p.Phe18Ser) | dbSNP |
| MT | m.14799T>G | CA913172120 | MT-CYB | c.53T>G (p.Phe18Cys) | |
| MT | m.14799T= | CA2499568655 | MT-CYB | c.53T= (p.Phe18=) | |
| MT | m.14800C>A | CA913172121 | MT-CYB | c.54C>A (p.Phe18Leu) | |
| MT | m.14800C= | CA2499568656 | MT-CYB | c.54C= (p.Phe18=) | |
| MT | m.14800C>G | CA913172122 | MT-CYB | c.54C>G (p.Phe18Leu) | |
| MT | m.14800C>T | CA270600 | MT-CYB | c.54C>T (p.Phe18=) | ClinVar dbSNP |
| MT | m.14801A= | CA2573327928 | MT-CYB | c.55A= (p.Ile19=) | |
| MT | m.14801A>C | CA913172123 | MT-CYB | c.55A>C (p.Ile19Leu) | |
| MT | m.14801A>G | CA913172124 | MT-CYB | c.55A>G (p.Ile19Val) | |
| MT | m.14801A>T | CA913172125 | MT-CYB | c.55A>T (p.Ile19Phe) | |
| MT | m.14802T>A | CA913172128 | MT-CYB | c.56T>A (p.Ile19Asn) | |
| MT | m.14802T>C | CA913172127 | MT-CYB | c.56T>C (p.Ile19Thr) | |
| MT | m.14802T>G | CA913172126 | MT-CYB | c.56T>G (p.Ile19Ser) | |
| MT | m.14802T= | CA2573327930 | MT-CYB | c.56T= (p.Ile19=) | |
| MT | m.14803C>A | CA913172130 | MT-CYB | c.57C>A (p.Ile19=) | |
| MT | m.14803C= | CA2499568657 | MT-CYB | c.57C= (p.Ile19=) | |
| MT | m.14803C>G | CA913172129 | MT-CYB | c.57C>G (p.Ile19Met) | |
| MT | m.14803C>T | CA337100168 | MT-CYB | c.57C>T (p.Ile19=) | dbSNP |
| MT | m.14804G>A | CA913172133 | MT-CYB | c.58G>A (p.Asp20Asn) | ClinVar dbSNP |
| MT | m.14804G>C | CA913172132 | MT-CYB | c.58G>C (p.Asp20His) | |
| MT | m.14804G= | CA2499568658 | MT-CYB | c.58G= (p.Asp20=) | |
| MT | m.14804G>T | CA913172131 | MT-CYB | c.58G>T (p.Asp20Tyr) | |
| MT | m.14805A= | CA2573327936 | MT-CYB | c.59A= (p.Asp20=) | |
| MT | m.14805A>C | CA913172135 | MT-CYB | c.59A>C (p.Asp20Ala) | |
| MT | m.14805A>G | CA913172134 | MT-CYB | c.59A>G (p.Asp20Gly) | |
| MT | m.14805A>T | CA913172136 | MT-CYB | c.59A>T (p.Asp20Val) | |
| MT | m.14806C>A | CA913172137 | MT-CYB | c.60C>A (p.Asp20Glu) | |
| MT | m.14806C= | CA2573327938 | MT-CYB | c.60C= (p.Asp20=) | |
| MT | m.14806C>G | CA913172138 | MT-CYB | c.60C>G (p.Asp20Glu) | |
| MT | m.14806C>T | CA913172139 | MT-CYB | c.60C>T (p.Asp20=) | |
| MT | m.14807C>A | CA913172140 | MT-CYB | c.61C>A (p.Leu21Ile) | |
| MT | m.14807C= | CA2573327940 | MT-CYB | c.61C= (p.Leu21=) | |
| MT | m.14807C>G | CA913172141 | MT-CYB | c.61C>G (p.Leu21Val) | |
| MT | m.14807C>T | CA913172142 | MT-CYB | c.61C>T (p.Leu21Phe) | |
| MT | m.14808T>A | CA913172145 | MT-CYB | c.62T>A (p.Leu21His) | |
| MT | m.14808T>C | CA913172144 | MT-CYB | c.62T>C (p.Leu21Pro) | |
| MT | m.14808T>G | CA913172143 | MT-CYB | c.62T>G (p.Leu21Arg) | |
| MT | m.14808T= | CA2573327942 | MT-CYB | c.62T= (p.Leu21=) | |
| MT | m.14809C>A | CA913172148 | MT-CYB | c.63C>A (p.Leu21=) | |
| MT | m.14809C= | CA2499568659 | MT-CYB | c.63C= (p.Leu21=) | |
| MT | m.14809C>G | CA913172147 | MT-CYB | c.63C>G (p.Leu21=) | |
| MT | m.14809C>T | CA913172146 | MT-CYB | c.63C>T (p.Leu21=) | dbSNP |
| MT | m.14812dup | CA2740098397 | MT-CYB | c.66dup (p.Thr23HisfsTer?) | |
| MT | m.14810C>A | CA913172149 | MT-CYB | c.64C>A (p.Pro22Thr) | |
| MT | m.14810C= | CA2573327946 | MT-CYB | c.64C= (p.Pro22=) | |
| MT | m.14810C>G | CA913172150 | MT-CYB | c.64C>G (p.Pro22Ala) | |
| MT | m.14810C>T | CA913172151 | MT-CYB | c.64C>T (p.Pro22Ser) | |
| MT | m.14811C>A | CA913172152 | MT-CYB | c.65C>A (p.Pro22His) | |
| MT | m.14811C= | CA2573327947 | MT-CYB | c.65C= (p.Pro22=) | |
| MT | m.14811C>G | CA913172153 | MT-CYB | c.65C>G (p.Pro22Arg) | |
| MT | m.14811C>T | CA913172154 | MT-CYB | c.65C>T (p.Pro22Leu) | |
| MT | m.14812C>A | CA913172157 | MT-CYB | c.66C>A (p.Pro22=) | dbSNP |
| MT | m.14812C= | CA2499568660 | MT-CYB | c.66C= (p.Pro22=) | |
| MT | m.14812C>G | CA913172156 | MT-CYB | c.66C>G (p.Pro22=) | |
| MT | m.14812C>T | CA913172155 | MT-CYB | c.66C>T (p.Pro22=) | dbSNP |
| MT | m.14813A= | CA2499568661 | MT-CYB | c.67A= (p.Thr23=) | |
| MT | m.14813A>C | CA913172158 | MT-CYB | c.67A>C (p.Thr23Pro) | |
| MT | m.14813A>G | CA913172159 | MT-CYB | c.67A>G (p.Thr23Ala) | dbSNP |
| MT | m.14813A>T | CA913172160 | MT-CYB | c.67A>T (p.Thr23Ser) | ClinVar dbSNP |
| MT | m.14814C>A | CA913172163 | MT-CYB | c.68C>A (p.Thr23Asn) | |
| MT | m.14814C= | CA2499568662 | MT-CYB | c.68C= (p.Thr23=) | |
| MT | m.14814C>G | CA913172162 | MT-CYB | c.68C>G (p.Thr23Ser) | |
| MT | m.14814C>T | CA913172161 | MT-CYB | c.68C>T (p.Thr23Ile) | dbSNP |
| MT | m.14817dup | CA2740098398 | MT-CYB | c.71dup (p.Ser25IlefsTer?) | |
| MT | m.14817del | CA2573105319 | MT-CYB | c.71del (p.Pro24HisfsTer18) | |
| MT | m.14815C>A | CA913172166 | MT-CYB | c.69C>A (p.Thr23=) | |
| MT | m.14815C= | CA2499568663 | MT-CYB | c.69C= (p.Thr23=) | |
| MT | m.14815C>G | CA913172165 | MT-CYB | c.69C>G (p.Thr23=) | |
| MT | m.14815C>T | CA913172164 | MT-CYB | c.69C>T (p.Thr23=) | dbSNP |
| MT | m.14816C>A | CA913172169 | MT-CYB | c.70C>A (p.Pro24Thr) | |
| MT | m.14816C= | CA2573327960 | MT-CYB | c.70C= (p.Pro24=) | |
| MT | m.14816C>G | CA913172168 | MT-CYB | c.70C>G (p.Pro24Ala) | |
| MT | m.14816C>T | CA913172167 | MT-CYB | c.70C>T (p.Pro24Ser) | |
| MT | m.14817C>A | CA913172171 | MT-CYB | c.71C>A (p.Pro24Gln) | |
| MT | m.14817C= | CA2573327962 | MT-CYB | c.71C= (p.Pro24=) | |
| MT | m.14817C>G | CA913172172 | MT-CYB | c.71C>G (p.Pro24Arg) | |
| MT | m.14817C>T | CA913172170 | MT-CYB | c.71C>T (p.Pro24Leu) | |
| MT | m.14818A= | CA2499568664 | MT-CYB | c.72A= (p.Pro24=) | |
| MT | m.14818A>C | CA913172175 | MT-CYB | c.72A>C (p.Pro24=) | |
| MT | m.14818A>G | CA913172174 | MT-CYB | c.72A>G (p.Pro24=) | dbSNP |
| MT | m.14818A>T | CA913172173 | MT-CYB | c.72A>T (p.Pro24=) | |
| MT | m.14819T>A | CA913172177 | MT-CYB | c.73T>A (p.Ser25Thr) | |
| MT | m.14819T>C | CA913172176 | MT-CYB | c.73T>C (p.Ser25Pro) | dbSNP |
| MT | m.14819T>G | CA913172178 | MT-CYB | c.73T>G (p.Ser25Ala) | |
| MT | m.14819T= | CA2573327965 | MT-CYB | c.73T= (p.Ser25=) | |
| MT | m.14820C>A | CA913172179 | MT-CYB | c.74C>A (p.Ser25Tyr) | |
| MT | m.14820C= | CA2573327968 | MT-CYB | c.74C= (p.Ser25=) | |
| MT | m.14820C>G | CA913172180 | MT-CYB | c.74C>G (p.Ser25Cys) | |
| MT | m.14820C>T | CA913172181 | MT-CYB | c.74C>T (p.Ser25Phe) | |
| MT | m.14821C>A | CA913172184 | MT-CYB | c.75C>A (p.Ser25=) | |
| MT | m.14821C= | CA2499568665 | MT-CYB | c.75C= (p.Ser25=) | |
| MT | m.14821C>G | CA913172183 | MT-CYB | c.75C>G (p.Ser25=) | |
| MT | m.14821C>T | CA913172182 | MT-CYB | c.75C>T (p.Ser25=) | dbSNP |
| MT | m.14822A= | CA2573327974 | MT-CYB | c.76A= (p.Asn26=) | |
| MT | m.14822A>C | CA913172185 | MT-CYB | c.76A>C (p.Asn26His) | |
| MT | m.14822A>G | CA913172187 | MT-CYB | c.76A>G (p.Asn26Asp) | |
| MT | m.14822A>T | CA913172186 | MT-CYB | c.76A>T (p.Asn26Tyr) | |
| MT | m.14823A= | CA2573327977 | MT-CYB | c.77A= (p.Asn26=) | |
| MT | m.14823A>C | CA913172190 | MT-CYB | c.77A>C (p.Asn26Thr) | |
| MT | m.14823A>G | CA913172189 | MT-CYB | c.77A>G (p.Asn26Ser) | |
| MT | m.14823A>T | CA913172188 | MT-CYB | c.77A>T (p.Asn26Ile) | |
| MT | m.14824C>A | CA913172193 | MT-CYB | c.78C>A (p.Asn26Lys) | |
| MT | m.14824C= | CA2499568666 | MT-CYB | c.78C= (p.Asn26=) | |
| MT | m.14824C>G | CA913172192 | MT-CYB | c.78C>G (p.Asn26Lys) | |
| MT | m.14824C>T | CA913172191 | MT-CYB | c.78C>T (p.Asn26=) | dbSNP |
| MT | m.14825A= | CA2499568667 | MT-CYB | c.79A= (p.Ile27=) | |
| MT | m.14825A>C | CA913172196 | MT-CYB | c.79A>C (p.Ile27Leu) | |
| MT | m.14825A>G | CA913172195 | MT-CYB | c.79A>G (p.Ile27Val) | ClinVar dbSNP |
| MT | m.14825A>T | CA913172194 | MT-CYB | c.79A>T (p.Ile27Phe) | |
| MT | m.14826T>A | CA913172197 | MT-CYB | c.80T>A (p.Ile27Asn) | |
| MT | m.14826T>C | CA913172199 | MT-CYB | c.80T>C (p.Ile27Thr) | ClinVar dbSNP |
| MT | m.14826T>G | CA913172198 | MT-CYB | c.80T>G (p.Ile27Ser) | |
| MT | m.14826T= | CA2499568668 | MT-CYB | c.80T= (p.Ile27=) | |
| MT | m.14827C>A | CA913172202 | MT-CYB | c.81C>A (p.Ile27=) | |
| MT | m.14827C= | CA2499568669 | MT-CYB | c.81C= (p.Ile27=) | |
| MT | m.14827C>G | CA913172201 | MT-CYB | c.81C>G (p.Ile27Met) | |
| MT | m.14827C>T | CA913172200 | MT-CYB | c.81C>T (p.Ile27=) | dbSNP |
| MT | m.14828T>A | CA913172203 | MT-CYB | c.82T>A (p.Ser28Thr) | |
| MT | m.14828T>C | CA913172204 | MT-CYB | c.82T>C (p.Ser28Pro) | |
| MT | m.14828T>G | CA913172205 | MT-CYB | c.82T>G (p.Ser28Ala) | |
| MT | m.14828T= | CA2573327986 | MT-CYB | c.82T= (p.Ser28=) | |
| MT | m.14829C>A | CA913172206 | MT-CYB | c.83C>A (p.Ser28Tyr) | |
| MT | m.14829C= | CA2573327988 | MT-CYB | c.83C= (p.Ser28=) | |
| MT | m.14829C>G | CA913172207 | MT-CYB | c.83C>G (p.Ser28Cys) | |
| MT | m.14829C>T | CA913172208 | MT-CYB | c.83C>T (p.Ser28Phe) | |
| MT | m.14830C>A | CA913172211 | MT-CYB | c.84C>A (p.Ser28=) | |
| MT | m.14830C= | CA2499568670 | MT-CYB | c.84C= (p.Ser28=) | |
| MT | m.14830C>G | CA913172209 | MT-CYB | c.84C>G (p.Ser28=) | |
| MT | m.14830C>T | CA913172210 | MT-CYB | c.84C>T (p.Ser28=) | dbSNP |
| MT | m.14831G>A | CA344826 | MT-CYB | c.85G>A (p.Ala29Thr) | ClinVar dbSNP |
| MT | m.14831G>C | CA913172213 | MT-CYB | c.85G>C (p.Ala29Pro) | ClinVar dbSNP |
| MT | m.14831G= | CA2499568671 | MT-CYB | c.85G= (p.Ala29=) | |
| MT | m.14831G>T | CA913172212 | MT-CYB | c.85G>T (p.Ala29Ser) | |
| MT | m.14832C>A | CA913172214 | MT-CYB | c.86C>A (p.Ala29Glu) | |
| MT | m.14832C= | CA2499568672 | MT-CYB | c.86C= (p.Ala29=) | |
| MT | m.14832C>G | CA913172215 | MT-CYB | c.86C>G (p.Ala29Gly) | |
| MT | m.14832C>T | CA913172216 | MT-CYB | c.86C>T (p.Ala29Val) | ClinVar dbSNP |
| MT | m.14833A= | CA2573328000 | MT-CYB | c.87A= (p.Ala29=) | |
| MT | m.14833A>C | CA913172217 | MT-CYB | c.87A>C (p.Ala29=) | |
| MT | m.14833A>G | CA913172218 | MT-CYB | c.87A>G (p.Ala29=) | |
| MT | m.14833A>T | CA913172219 | MT-CYB | c.87A>T (p.Ala29=) | |
| MT | m.14834T>A | CA913172222 | MT-CYB | c.88T>A (p.Ter30Arg) | |
| MT | m.14834T>C | CA913172220 | MT-CYB | c.88T>C (p.Ter30Arg) | |
| MT | m.14834T>G | CA913172221 | MT-CYB | c.88T>G (p.Ter30Gly) | |
| MT | m.14834T= | CA2573328002 | MT-CYB | c.88T= (p.Ter30=) | |
| MT | m.14835G>A | CA913172225 | MT-CYB | c.89G>A (p.Ter30=) | |
| MT | m.14835G>C | CA913172224 | MT-CYB | c.89G>C (p.Ter30Ser) | |
| MT | m.14835G= | CA2513307348 | MT-CYB | c.89G= (p.Ter30=) | |
| MT | m.14835G>T | CA913172223 | MT-CYB | c.89G>T (p.Ter30Leu) | |
| MT | m.14836A= | CA2499568673 | MT-CYB | c.90A= (p.Ter30=) | |
| MT | m.14836A>C | CA913172226 | MT-CYB | c.90A>C (p.Ter30Cys) | |
| MT | m.14836A>G | CA913172227 | MT-CYB | c.90A>G (p.Ter30Trp) | dbSNP |
| MT | m.14836A>T | CA913172228 | MT-CYB | c.90A>T (p.Ter30Cys) | |
| MT | m.14837T>A | CA913172230 | MT-CYB | c.91T>A (p.Ter31Arg) | |
| MT | m.14837T>C | CA913172231 | MT-CYB | c.91T>C (p.Ter31Arg) | |
| MT | m.14837T>G | CA913172229 | MT-CYB | c.91T>G (p.Ter31Gly) | |
| MT | m.14837T= | CA2573328005 | MT-CYB | c.91T= (p.Ter31=) | |
| MT | m.14838G>A | CA645611435 | MT-CYB | c.92G>A (p.Ter31=) | ClinVar dbSNP COSMIC COSMIC |
| MT | m.14838G>C | CA913172233 | MT-CYB | c.92G>C (p.Ter31Ser) | |
| MT | m.14838G= | CA2499568674 | MT-CYB | c.92G= (p.Ter31=) | |
| MT | m.14838G>T | CA913172232 | MT-CYB | c.92G>T (p.Ter31Leu) | |
| MT | m.14839A= | CA2499568675 | MT-CYB | c.93A= (p.Ter31=) | |
| MT | m.14839A>C | CA913172236 | MT-CYB | c.93A>C (p.Ter31Cys) | |
| MT | m.14839A>G | CA913172235 | MT-CYB | c.93A>G (p.Ter31Trp) | dbSNP |
| MT | m.14839A>T | CA913172234 | MT-CYB | c.93A>T (p.Ter31Cys) | |
| MT | m.14840A= | CA2573328010 | MT-CYB | c.94A= (p.Asn32=) | |
| MT | m.14840A>C | CA913172239 | MT-CYB | c.94A>C (p.Asn32His) | |
| MT | m.14840A>G | CA913172238 | MT-CYB | c.94A>G (p.Asn32Asp) | dbSNP |
| MT | m.14840A>T | CA913172237 | MT-CYB | c.94A>T (p.Asn32Tyr) | |
| MT | m.14841A= | CA2499568676 | MT-CYB | c.95A= (p.Asn32=) | |
| MT | m.14841A>C | CA913172240 | MT-CYB | c.95A>C (p.Asn32Thr) | |
| MT | m.14841A>G | CA913172241 | MT-CYB | c.95A>G (p.Asn32Ser) | ClinVar dbSNP |
| MT | m.14841A>T | CA913172242 | MT-CYB | c.95A>T (p.Asn32Ile) | |
| MT | m.14842C>A | CA913172245 | MT-CYB | c.96C>A (p.Asn32Lys) | |
| MT | m.14842C= | CA2573328012 | MT-CYB | c.96C= (p.Asn32=) | |
| MT | m.14842C>G | CA913172243 | MT-CYB | c.96C>G (p.Asn32Lys) | |
| MT | m.14842C>T | CA913172244 | MT-CYB | c.96C>T (p.Asn32=) | |
| MT | m.14843T>A | CA913172248 | MT-CYB | c.97T>A (p.Phe33Ile) | |
| MT | m.14843T>C | CA913172247 | MT-CYB | c.97T>C (p.Phe33Leu) | dbSNP |
| MT | m.14843T>G | CA913172246 | MT-CYB | c.97T>G (p.Phe33Val) | |
| MT | m.14843T= | CA2499568677 | MT-CYB | c.97T= (p.Phe33=) | |
| MT | m.14844T>A | CA913172251 | MT-CYB | c.98T>A (p.Phe33Tyr) | |
| MT | m.14844T>C | CA913172250 | MT-CYB | c.98T>C (p.Phe33Ser) | |
| MT | m.14844T>G | CA913172249 | MT-CYB | c.98T>G (p.Phe33Cys) | |
| MT | m.14844T= | CA2513050976 | MT-CYB | c.98T= (p.Phe33=) | |
| MT | m.14845C>A | CA913172252 | MT-CYB | c.99C>A (p.Phe33Leu) | |
| MT | m.14845C= | CA2573328015 | MT-CYB | c.99C= (p.Phe33=) | |
| MT | m.14845C>G | CA913172253 | MT-CYB | c.99C>G (p.Phe33Leu) | |
| MT | m.14845C>T | CA913172254 | MT-CYB | c.99C>T (p.Phe33=) | dbSNP |
| MT | m.14846G>A | CA120617 | MT-CYB | c.100G>A (p.Gly34Ser) | ClinVar dbSNP COSMIC COSMIC |
| MT | m.14846G>C | CA913172256 | MT-CYB | c.100G>C (p.Gly34Arg) | |
| MT | m.14846G= | CA2499568678 | MT-CYB | c.100G= (p.Gly34=) | |
| MT | m.14846G>T | CA913172255 | MT-CYB | c.100G>T (p.Gly34Cys) | |
| MT | m.14847G>A | CA645611436 | MT-CYB | c.101G>A (p.Gly34Asp) | COSMIC COSMIC |
| MT | m.14847G>C | CA913172257 | MT-CYB | c.101G>C (p.Gly34Ala) | |
| MT | m.14847G= | CA2573328023 | MT-CYB | c.101G= (p.Gly34=) | |
| MT | m.14847G>T | CA913172258 | MT-CYB | c.101G>T (p.Gly34Val) | |
| MT | m.14848C>A | CA913172259 | MT-CYB | c.102C>A (p.Gly34=) | |
| MT | m.14848C= | CA2499568679 | MT-CYB | c.102C= (p.Gly34=) | |
| MT | m.14848C>G | CA913172260 | MT-CYB | c.102C>G (p.Gly34=) | |
| MT | m.14848C>T | CA913172261 | MT-CYB | c.102C>T (p.Gly34=) | dbSNP |
| MT | m.14848_14855del | CA2740098399 | MT-CYB | c.102_109del (p.Ser35TrpfsTer?) | |
| MT | m.14849T>A | CA913172263 | MT-CYB | c.103T>A (p.Ser35Thr) | |
| MT | m.14849T>C | CA120623 | MT-CYB | c.103T>C (p.Ser35Pro) | ClinVar dbSNP |
| MT | m.14849T>G | CA913172262 | MT-CYB | c.103T>G (p.Ser35Ala) | |
| MT | m.14849T= | CA2499568680 | MT-CYB | c.103T= (p.Ser35=) | |
| MT | m.14850C>A | CA913172264 | MT-CYB | c.104C>A (p.Ser35Ter) | |
| MT | m.14850C= | CA2573328029 | MT-CYB | c.104C= (p.Ser35=) | |
| MT | m.14850C>G | CA913172265 | MT-CYB | c.104C>G (p.Ser35Ter) | |
| MT | m.14850C>T | CA913172266 | MT-CYB | c.104C>T (p.Ser35Leu) | |
| MT | m.14851A= | CA2499568681 | MT-CYB | c.105A= (p.Ser35=) | |
| MT | m.14851A>C | CA913172267 | MT-CYB | c.105A>C (p.Ser35=) | |
| MT | m.14851A>G | CA913172268 | MT-CYB | c.105A>G (p.Ser35=) | |
| MT | m.14851A>T | CA913172269 | MT-CYB | c.105A>T (p.Ser35=) | dbSNP |
| MT | m.14852C>A | CA913172271 | MT-CYB | c.106C>A (p.Leu36Ile) | |
| MT | m.14852C= | CA2573328032 | MT-CYB | c.106C= (p.Leu36=) | |
| MT | m.14852C>G | CA913172270 | MT-CYB | c.106C>G (p.Leu36Val) | |
| MT | m.14852C>T | CA913172272 | MT-CYB | c.106C>T (p.Leu36Phe) | |
| MT | m.14853T>A | CA913172273 | MT-CYB | c.107T>A (p.Leu36His) | |
| MT | m.14853T>C | CA913172274 | MT-CYB | c.107T>C (p.Leu36Pro) | |
| MT | m.14853T>G | CA913172275 | MT-CYB | c.107T>G (p.Leu36Arg) | |
| MT | m.14853T= | CA2573328036 | MT-CYB | c.107T= (p.Leu36=) | |
| MT | m.14854C>A | CA913172276 | MT-CYB | c.108C>A (p.Leu36=) | |
| MT | m.14854C= | CA2499568682 | MT-CYB | c.108C= (p.Leu36=) | |
| MT | m.14854C>G | CA913172277 | MT-CYB | c.108C>G (p.Leu36=) | |
| MT | m.14854C>T | CA16040638 | MT-CYB | c.108C>T (p.Leu36=) | ClinVar dbSNP |
| MT | m.14855C>A | CA913172280 | MT-CYB | c.109C>A (p.Leu37Ile) | |
| MT | m.14855C= | CA2573328042 | MT-CYB | c.109C= (p.Leu37=) | |
| MT | m.14855C>G | CA913172279 | MT-CYB | c.109C>G (p.Leu37Val) | |
| MT | m.14855C>T | CA913172278 | MT-CYB | c.109C>T (p.Leu37Phe) | |
| MT | m.14856T>A | CA913172281 | MT-CYB | c.110T>A (p.Leu37His) | |
| MT | m.14856T>C | CA913172282 | MT-CYB | c.110T>C (p.Leu37Pro) | |
| MT | m.14856T>G | CA913172283 | MT-CYB | c.110T>G (p.Leu37Arg) | |
| MT | m.14856T= | CA2573328044 | MT-CYB | c.110T= (p.Leu37=) | |
| MT | m.14857T>A | CA913172285 | MT-CYB | c.111T>A (p.Leu37=) | dbSNP |
| MT | m.14857T>C | CA645611437 | MT-CYB | c.111T>C (p.Leu37=) | dbSNP COSMIC COSMIC |
| MT | m.14857T>G | CA913172284 | MT-CYB | c.111T>G (p.Leu37=) | |
| MT | m.14857T= | CA2499568683 | MT-CYB | c.111T= (p.Leu37=) | |
| MT | m.14858G>A | CA913172286 | MT-CYB | c.112G>A (p.Gly38Ser) | ClinVar dbSNP |
| MT | m.14858G>C | CA913172287 | MT-CYB | c.112G>C (p.Gly38Arg) | |
| MT | m.14858G= | CA2499568684 | MT-CYB | c.112G= (p.Gly38=) | |
| MT | m.14858G>T | CA913172288 | MT-CYB | c.112G>T (p.Gly38Cys) | |
| MT | m.14858_14859insAG | CA2740098400 | MT-CYB | c.112_113insAG (p.Gly38GlufsTer5) | |
| MT | m.14859G>A | CA913172289 | MT-CYB | c.113G>A (p.Gly38Asp) | |
| MT | m.14859G>C | CA913172290 | MT-CYB | c.113G>C (p.Gly38Ala) | dbSNP |
| MT | m.14859G= | CA2499568685 | MT-CYB | c.113G= (p.Gly38=) | |
| MT | m.14859G>T | CA913172291 | MT-CYB | c.113G>T (p.Gly38Val) | |
| MT | m.14860C>A | CA913172294 | MT-CYB | c.114C>A (p.Gly38=) | |
| MT | m.14860C= | CA2573328050 | MT-CYB | c.114C= (p.Gly38=) | |
| MT | m.14860C>G | CA913172293 | MT-CYB | c.114C>G (p.Gly38=) | |
| MT | m.14860C>T | CA913172292 | MT-CYB | c.114C>T (p.Gly38=) | |
| MT | m.14861G>A | CA337100175 | MT-CYB | c.115G>A (p.Ala39Thr) | ClinVar dbSNP |
| MT | m.14861G>C | CA913172296 | MT-CYB | c.115G>C (p.Ala39Pro) | |
| MT | m.14861G= | CA2499568686 | MT-CYB | c.115G= (p.Ala39=) | |
| MT | m.14861G>T | CA913172295 | MT-CYB | c.115G>T (p.Ala39Ser) | |
| MT | m.14862C>A | CA913172298 | MT-CYB | c.116C>A (p.Ala39Asp) | |
| MT | m.14862C= | CA2499568687 | MT-CYB | c.116C= (p.Ala39=) | |
| MT | m.14862C>G | CA913172299 | MT-CYB | c.116C>G (p.Ala39Gly) | |
| MT | m.14862C>T | CA913172297 | MT-CYB | c.116C>T (p.Ala39Val) | ClinVar dbSNP |
| MT | m.14863C>A | CA913172302 | MT-CYB | c.117C>A (p.Ala39=) | |
| MT | m.14863C= | CA2573328058 | MT-CYB | c.117C= (p.Ala39=) | |
| MT | m.14863C>G | CA913172301 | MT-CYB | c.117C>G (p.Ala39=) | |
| MT | m.14863C>T | CA913172300 | MT-CYB | c.117C>T (p.Ala39=) | |
| MT | m.14864T>A | CA913172305 | MT-CYB | c.118T>A (p.Cys40Ser) | |
| MT | m.14864T>C | CA913172303 | MT-CYB | c.118T>C (p.Cys40Arg) | ClinVar |
| MT | m.14864T>G | CA913172304 | MT-CYB | c.118T>G (p.Cys40Gly) | |
| MT | m.14864T= | CA2573328061 | MT-CYB | c.118T= (p.Cys40=) | |
| MT | m.14865G>A | CA913172308 | MT-CYB | c.119G>A (p.Cys40Tyr) | |
| MT | m.14865G>C | CA913172307 | MT-CYB | c.119G>C (p.Cys40Ser) | |
| MT | m.14865G= | CA2573328063 | MT-CYB | c.119G= (p.Cys40=) | |
| MT | m.14865G>T | CA913172306 | MT-CYB | c.119G>T (p.Cys40Phe) | |
| MT | m.14866C>A | CA913172309 | MT-CYB | c.120C>A (p.Cys40Ter) | |
| MT | m.14866C= | CA2499568688 | MT-CYB | c.120C= (p.Cys40=) | |
| MT | m.14866C>G | CA913172310 | MT-CYB | c.120C>G (p.Cys40Trp) | |
| MT | m.14866C>T | CA337100176 | MT-CYB | c.120C>T (p.Cys40=) | dbSNP |
| MT | m.14867del | CA2740098401 | MT-CYB | c.121del (p.Leu41Ter) | |
| MT | m.14867C>A | CA913172312 | MT-CYB | c.121C>A (p.Leu41Met) | |
| MT | m.14867C= | CA2499568689 | MT-CYB | c.121C= (p.Leu41=) | |
| MT | m.14867C>G | CA913172313 | MT-CYB | c.121C>G (p.Leu41Val) | |
| MT | m.14867C>T | CA913172311 | MT-CYB | c.121C>T (p.Leu41=) | dbSNP |
| MT | m.14868T>A | CA913172314 | MT-CYB | c.122T>A (p.Leu41Gln) | |
| MT | m.14868T>C | CA913172316 | MT-CYB | c.122T>C (p.Leu41Pro) | |
| MT | m.14868T>G | CA913172315 | MT-CYB | c.122T>G (p.Leu41Arg) | |
| MT | m.14868T= | CA2573328066 | MT-CYB | c.122T= (p.Leu41=) | |
| MT | m.14869G>A | CA337100179 | MT-CYB | c.123G>A (p.Leu41=) | dbSNP |
| MT | m.14869G>C | CA913172318 | MT-CYB | c.123G>C (p.Leu41=) | dbSNP |
| MT | m.14869G= | CA2499568690 | MT-CYB | c.123G= (p.Leu41=) | |
| MT | m.14869G>T | CA913172317 | MT-CYB | c.123G>T (p.Leu41=) | |
| MT | m.14870A= | CA2499568691 | MT-CYB | c.124A= (p.Ile42=) | |
| MT | m.14870A>C | CA913172321 | MT-CYB | c.124A>C (p.Ile42Leu) | |
| MT | m.14870A>G | CA913172320 | MT-CYB | c.124A>G (p.Ile42Val) | ClinVar dbSNP |
| MT | m.14870A>T | CA913172319 | MT-CYB | c.124A>T (p.Ile42Phe) | |
| MT | m.14870_14871insG | CA2740098402 | MT-CYB | c.124_125insG (p.Ile42SerfsTer?) | |
| MT | m.14871T>A | CA913172323 | MT-CYB | c.125T>A (p.Ile42Asn) | |
| MT | m.14871T>C | CA337100181 | MT-CYB | c.125T>C (p.Ile42Thr) | ClinVar dbSNP |
| MT | m.14871T>G | CA913172322 | MT-CYB | c.125T>G (p.Ile42Ser) | |
| MT | m.14871T= | CA2499568692 | MT-CYB | c.125T= (p.Ile42=) | |
| MT | m.14871_14872insAGTG | CA2740098403 | MT-CYB | c.125_126insAGTG (p.Leu43ValfsTer?) | |
| MT | m.14872C>A | CA913172324 | MT-CYB | c.126C>A (p.Ile42=) | |
| MT | m.14872C= | CA2499568693 | MT-CYB | c.126C= (p.Ile42=) | |
| MT | m.14872C>G | CA913172325 | MT-CYB | c.126C>G (p.Ile42Met) | |
| MT | m.14872C>T | CA337100183 | MT-CYB | c.126C>T (p.Ile42=) | dbSNP COSMIC COSMIC |
| MT | m.14872_14873insATGG | CA2740098404 | MT-CYB | c.126_127insATGG (p.Leu43MetfsTer?) | |
| MT | m.14873C>A | CA913172327 | MT-CYB | c.127C>A (p.Leu43Ile) | |
| MT | m.14873C= | CA2499568694 | MT-CYB | c.127C= (p.Leu43=) | |
| MT | m.14873C>G | CA913172326 | MT-CYB | c.127C>G (p.Leu43Val) | |
| MT | m.14873C>T | CA337100185 | MT-CYB | c.127C>T (p.Leu43Phe) | ClinVar dbSNP |
| MT | m.14874T>A | CA913172328 | MT-CYB | c.128T>A (p.Leu43His) | |
| MT | m.14874T>C | CA913172329 | MT-CYB | c.128T>C (p.Leu43Pro) | dbSNP |
| MT | m.14874T>G | CA913172330 | MT-CYB | c.128T>G (p.Leu43Arg) | |
| MT | m.14874T= | CA2499568695 | MT-CYB | c.128T= (p.Leu43=) | |
| MT | m.14875C>A | CA913172331 | MT-CYB | c.129C>A (p.Leu43=) | |
| MT | m.14875C= | CA2573328080 | MT-CYB | c.129C= (p.Leu43=) | |
| MT | m.14875C>G | CA913172332 | MT-CYB | c.129C>G (p.Leu43=) | |
| MT | m.14875C>T | CA913172333 | MT-CYB | c.129C>T (p.Leu43=) | |
| MT | m.14875_14886del | CA2740098405 | MT-CYB | c.129_140del (p.Gln44_Thr47del) | |
| MT | m.14876C>A | CA913172334 | MT-CYB | c.130C>A (p.Gln44Lys) | |
| MT | m.14876C= | CA2573328084 | MT-CYB | c.130C= (p.Gln44=) | |
| MT | m.14876C>G | CA913172335 | MT-CYB | c.130C>G (p.Gln44Glu) | |
| MT | m.14876C>T | CA913172336 | MT-CYB | c.130C>T (p.Gln44Ter) | |
| MT | m.14877A= | CA2573328086 | MT-CYB | c.131A= (p.Gln44=) | |
| MT | m.14877A>C | CA913172339 | MT-CYB | c.131A>C (p.Gln44Pro) | |
| MT | m.14877A>G | CA913172337 | MT-CYB | c.131A>G (p.Gln44Arg) | |
| MT | m.14877A>T | CA913172338 | MT-CYB | c.131A>T (p.Gln44Leu) | |
| MT | m.14878A= | CA2573328088 | MT-CYB | c.132A= (p.Gln44=) | |
| MT | m.14878A>C | CA913172340 | MT-CYB | c.132A>C (p.Gln44His) | |
| MT | m.14878A>G | CA913172341 | MT-CYB | c.132A>G (p.Gln44=) | dbSNP |
| MT | m.14878A>T | CA913172342 | MT-CYB | c.132A>T (p.Gln44His) | |
| MT | m.14879A= | CA2499568696 | MT-CYB | c.133A= (p.Ile45=) | |
| MT | m.14879A>C | CA913172343 | MT-CYB | c.133A>C (p.Ile45Leu) | |
| MT | m.14879A>G | CA913172344 | MT-CYB | c.133A>G (p.Ile45Val) | dbSNP |
| MT | m.14879A>T | CA913172345 | MT-CYB | c.133A>T (p.Ile45Phe) | ClinVar dbSNP |
| MT | m.14880T>A | CA913172348 | MT-CYB | c.134T>A (p.Ile45Asn) | |
| MT | m.14880T>C | CA913172347 | MT-CYB | c.134T>C (p.Ile45Thr) | ClinVar dbSNP |
| MT | m.14880T>G | CA913172346 | MT-CYB | c.134T>G (p.Ile45Ser) | |
| MT | m.14880T= | CA2499568697 | MT-CYB | c.134T= (p.Ile45=) | |
| MT | m.14881del | CA2573105320 | MT-CYB | c.135del (p.Thr46ProfsTer6) | |
| MT | m.14881C>A | CA913172349 | MT-CYB | c.135C>A (p.Ile45=) | |
| MT | m.14881C= | CA2499568698 | MT-CYB | c.135C= (p.Ile45=) | |
| MT | m.14881C>G | CA913172350 | MT-CYB | c.135C>G (p.Ile45Met) | |
| MT | m.14881C>T | CA337100188 | MT-CYB | c.135C>T (p.Ile45=) | dbSNP |
| MT | m.14882A= | CA2573328094 | MT-CYB | c.136A= (p.Thr46=) | |
| MT | m.14882A>C | CA913172352 | MT-CYB | c.136A>C (p.Thr46Pro) | |
| MT | m.14882A>G | CA913172353 | MT-CYB | c.136A>G (p.Thr46Ala) | |
| MT | m.14882A>T | CA913172351 | MT-CYB | c.136A>T (p.Thr46Ser) | |
| MT | m.14883C>A | CA913172356 | MT-CYB | c.137C>A (p.Thr46Asn) | |
| MT | m.14883C= | CA2499568699 | MT-CYB | c.137C= (p.Thr46=) | |
| MT | m.14883C>G | CA913172354 | MT-CYB | c.137C>G (p.Thr46Ser) | |
| MT | m.14883C>T | CA913172355 | MT-CYB | c.137C>T (p.Thr46Ile) | ClinVar dbSNP |
| MT | m.14884C>A | CA913172359 | MT-CYB | c.138C>A (p.Thr46=) | |
| MT | m.14884C= | CA2499568700 | MT-CYB | c.138C= (p.Thr46=) | |
| MT | m.14884C>G | CA913172358 | MT-CYB | c.138C>G (p.Thr46=) | |
| MT | m.14884C>T | CA913172357 | MT-CYB | c.138C>T (p.Thr46=) | dbSNP |
| MT | m.14885A= | CA2573328105 | MT-CYB | c.139A= (p.Thr47=) | |
| MT | m.14885A>C | CA913172360 | MT-CYB | c.139A>C (p.Thr47Pro) | |
| MT | m.14885A>G | CA913172361 | MT-CYB | c.139A>G (p.Thr47Ala) | |
| MT | m.14885A>T | CA913172362 | MT-CYB | c.139A>T (p.Thr47Ser) | |
| MT | m.14886C>A | CA913172363 | MT-CYB | c.140C>A (p.Thr47Lys) | |
| MT | m.14886C= | CA2573328107 | MT-CYB | c.140C= (p.Thr47=) | |
| MT | m.14886C>G | CA913172365 | MT-CYB | c.140C>G (p.Thr47Arg) | |
| MT | m.14886C>T | CA913172364 | MT-CYB | c.140C>T (p.Thr47Ile) | |
| MT | m.14887A= | CA2499568701 | MT-CYB | c.141A= (p.Thr47=) | |
| MT | m.14887A>C | CA913172366 | MT-CYB | c.141A>C (p.Thr47=) | |
| MT | m.14887A>G | CA913172367 | MT-CYB | c.141A>G (p.Thr47=) | dbSNP |
| MT | m.14887A>T | CA913172368 | MT-CYB | c.141A>T (p.Thr47=) | |
| MT | m.14888G>A | CA913172369 | MT-CYB | c.142G>A (p.Gly48Arg) | ClinVar dbSNP |
| MT | m.14888G>C | CA913172370 | MT-CYB | c.142G>C (p.Gly48Arg) | |
| MT | m.14888G= | CA2499568702 | MT-CYB | c.142G= (p.Gly48=) | |
| MT | m.14888G>T | CA913172371 | MT-CYB | c.142G>T (p.Gly48Ter) | |
| MT | m.14889G>A | CA913172374 | MT-CYB | c.143G>A (p.Gly48Glu) | dbSNP |
| MT | m.14889G>C | CA913172373 | MT-CYB | c.143G>C (p.Gly48Ala) | |
| MT | m.14889G= | CA2499568703 | MT-CYB | c.143G= (p.Gly48=) | |
| MT | m.14889G>T | CA913172372 | MT-CYB | c.143G>T (p.Gly48Val) | |
| MT | m.14890A= | CA2499568704 | MT-CYB | c.144A= (p.Gly48=) | |
| MT | m.14890A>C | CA913172376 | MT-CYB | c.144A>C (p.Gly48=) | |
| MT | m.14890A>G | CA337100190 | MT-CYB | c.144A>G (p.Gly48=) | dbSNP |
| MT | m.14890A>T | CA913172375 | MT-CYB | c.144A>T (p.Gly48=) | |
| MT | m.14891C>A | CA913172378 | MT-CYB | c.145C>A (p.Leu49Ile) | |
| MT | m.14891C= | CA2499568705 | MT-CYB | c.145C= (p.Leu49=) | |
| MT | m.14891C>G | CA270601 | MT-CYB | c.145C>G (p.Leu49Val) | ClinVar dbSNP |
| MT | m.14891C>T | CA913172377 | MT-CYB | c.145C>T (p.Leu49=) | dbSNP |
| MT | m.14892T>A | CA913172380 | MT-CYB | c.146T>A (p.Leu49Gln) | |
| MT | m.14892T>C | CA645611438 | MT-CYB | c.146T>C (p.Leu49Pro) | COSMIC COSMIC |
| MT | m.14892T>G | CA913172379 | MT-CYB | c.146T>G (p.Leu49Arg) | |
| MT | m.14892T= | CA2573328113 | MT-CYB | c.146T= (p.Leu49=) | |
| MT | m.14893_14894del | CA2573105321 | MT-CYB | c.147_148del (p.Phe50ProfsTer?) |