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.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.7633C>A | CA337097668 | MT-CO2 | c.48C>A (p.Ile16=) | dbSNP |
| MT | m.7633C= | CA2499565259 | MT-CO2 | c.48C= (p.Ile16=) | |
| MT | m.7633C>G | CA337097670 | MT-CO2 | c.48C>G (p.Ile16Met) | |
| MT | m.7633C>T | CA913177606 | MT-CO2 | c.48C>T (p.Ile16=) | dbSNP |
| MT | m.7634A= | CA2573327798 | MT-CO2 | c.49A= (p.Ile17=) | |
| MT | m.7634A>C | CA414793073 | MT-CO2 | c.49A>C (p.Ile17Leu) | |
| MT | m.7634A>G | CA414793069 | MT-CO2 | c.49A>G (p.Ile17Val) | |
| MT | m.7634A>T | CA414793071 | MT-CO2 | c.49A>T (p.Ile17Leu) | |
| MT | m.7635T>A | CA414793075 | MT-CO2 | c.50T>A (p.Ile17Lys) | |
| MT | m.7635T>C | CA414793076 | MT-CO2 | c.50T>C (p.Ile17Thr) | |
| MT | m.7635T>G | CA414793079 | MT-CO2 | c.50T>G (p.Ile17Arg) | |
| MT | m.7635T= | CA2573327802 | MT-CO2 | c.50T= (p.Ile17=) | |
| MT | m.7636A= | CA2573327804 | MT-CO2 | c.51A= (p.Ile17=) | |
| MT | m.7636A>C | CA913177615 | MT-CO2 | c.51A>C (p.Ile17=) | |
| MT | m.7636A>G | CA414793081 | MT-CO2 | c.51A>G (p.Ile17Met) | |
| MT | m.7636A>T | CA913177616 | MT-CO2 | c.51A>T (p.Ile17=) | |
| MT | m.7637G>A | CA414793083 | MT-CO2 | c.52G>A (p.Glu18Lys) | ClinVar dbSNP |
| MT | m.7637G>C | CA414793085 | MT-CO2 | c.52G>C (p.Glu18Gln) | |
| MT | m.7637G= | CA2499565260 | MT-CO2 | c.52G= (p.Glu18=) | |
| MT | m.7637G>T | CA414793087 | MT-CO2 | c.52G>T (p.Glu18Ter) | |
| MT | m.7637_7638delinsGA | CA2499565261 | MT-CO2 | c.52_53delinsGA (p.Glu18=) | |
| MT | m.7638A= | CA2573327813 | MT-CO2 | c.53A= (p.Glu18=) | |
| MT | m.7638A>C | CA414793089 | MT-CO2 | c.53A>C (p.Glu18Ala) | |
| MT | m.7638A>G | CA414793091 | MT-CO2 | c.53A>G (p.Glu18Gly) | |
| MT | m.7638A>T | CA414793093 | MT-CO2 | c.53A>T (p.Glu18Val) | |
| MT | m.7639del | CA891844191 | MT-CO2 | c.54del (p.Glu19SerfsTer11) | ClinVar dbSNP |
| MT | m.7639A= | CA2573327816 | MT-CO2 | c.54A= (p.Glu18=) | |
| MT | m.7639A>C | CA414793097 | MT-CO2 | c.54A>C (p.Glu18Asp) | |
| MT | m.7639A>G | CA913177667 | MT-CO2 | c.54A>G (p.Glu18=) | |
| MT | m.7639A>T | CA414793095 | MT-CO2 | c.54A>T (p.Glu18Asp) | |
| MT | m.7640G>A | CA414793099 | MT-CO2 | c.55G>A (p.Glu19Lys) | |
| MT | m.7640G>C | CA414793101 | MT-CO2 | c.55G>C (p.Glu19Gln) | |
| MT | m.7640G= | CA2573327822 | MT-CO2 | c.55G= (p.Glu19=) | |
| MT | m.7640G>T | CA414793103 | MT-CO2 | c.55G>T (p.Glu19Ter) | |
| MT | m.7641A= | CA2513101139 | MT-CO2 | c.56A= (p.Glu19=) | |
| MT | m.7641A>C | CA414793104 | MT-CO2 | c.56A>C (p.Glu19Ala) | |
| MT | m.7641A>G | CA414793106 | MT-CO2 | c.56A>G (p.Glu19Gly) | |
| MT | m.7641A>T | CA414793108 | MT-CO2 | c.56A>T (p.Glu19Val) | |
| MT | m.7642G>A | CA913177676 | MT-CO2 | c.57G>A (p.Glu19=) | dbSNP |
| MT | m.7642G>C | CA414793111 | MT-CO2 | c.57G>C (p.Glu19Asp) | |
| MT | m.7642G= | CA2499565262 | MT-CO2 | c.57G= (p.Glu19=) | |
| MT | m.7642G>T | CA414793110 | MT-CO2 | c.57G>T (p.Glu19Asp) | |
| MT | m.7643C>A | CA414793114 | MT-CO2 | c.58C>A (p.Leu20Ile) | |
| MT | m.7643C= | CA2573327831 | MT-CO2 | c.58C= (p.Leu20=) | |
| MT | m.7643C>G | CA414793116 | MT-CO2 | c.58C>G (p.Leu20Val) | |
| MT | m.7643C>T | CA414793117 | MT-CO2 | c.58C>T (p.Leu20Phe) | |
| MT | m.7644T>A | CA414793120 | MT-CO2 | c.59T>A (p.Leu20His) | |
| MT | m.7644T>C | CA414793122 | MT-CO2 | c.59T>C (p.Leu20Pro) | |
| MT | m.7644T>G | CA414793123 | MT-CO2 | c.59T>G (p.Leu20Arg) | |
| MT | m.7644T= | CA2573327834 | MT-CO2 | c.59T= (p.Leu20=) | |
| MT | m.7645T>A | CA913177684 | MT-CO2 | c.60T>A (p.Leu20=) | |
| MT | m.7645T>C | CA913177686 | MT-CO2 | c.60T>C (p.Leu20=) | ClinVar dbSNP |
| MT | m.7645T>G | CA913177687 | MT-CO2 | c.60T>G (p.Leu20=) | |
| MT | m.7645T= | CA2499565263 | MT-CO2 | c.60T= (p.Leu20=) | |
| MT | m.7646A= | CA2499565264 | MT-CO2 | c.61A= (p.Ile21=) | |
| MT | m.7646A>C | CA414793126 | MT-CO2 | c.61A>C (p.Ile21Leu) | |
| MT | m.7646A>G | CA414793129 | MT-CO2 | c.61A>G (p.Ile21Val) | dbSNP |
| MT | m.7646A>T | CA414793127 | MT-CO2 | c.61A>T (p.Ile21Phe) | |
| MT | m.7647T>A | CA414793132 | MT-CO2 | c.62T>A (p.Ile21Asn) | |
| MT | m.7647T>C | CA414793133 | MT-CO2 | c.62T>C (p.Ile21Thr) | dbSNP |
| MT | m.7647T>G | CA414793134 | MT-CO2 | c.62T>G (p.Ile21Ser) | |
| MT | m.7647T= | CA2499565265 | MT-CO2 | c.62T= (p.Ile21=) | |
| MT | m.7648C>A | CA913177692 | MT-CO2 | c.63C>A (p.Ile21=) | |
| MT | m.7648C= | CA2499565266 | MT-CO2 | c.63C= (p.Ile21=) | |
| MT | m.7648C>G | CA414793136 | MT-CO2 | c.63C>G (p.Ile21Met) | |
| MT | m.7648C>T | CA913177693 | MT-CO2 | c.63C>T (p.Ile21=) | dbSNP |
| MT | m.7649A= | CA2499565267 | MT-CO2 | c.64A= (p.Thr22=) | |
| MT | m.7649A>C | CA414793139 | MT-CO2 | c.64A>C (p.Thr22Pro) | |
| MT | m.7649A>G | CA414793140 | MT-CO2 | c.64A>G (p.Thr22Ala) | ClinVar dbSNP |
| MT | m.7649A>T | CA414793142 | MT-CO2 | c.64A>T (p.Thr22Ser) | dbSNP |
| MT | m.7650C>A | CA414793145 | MT-CO2 | c.65C>A (p.Thr22Asn) | |
| MT | m.7650C= | CA2499565268 | MT-CO2 | c.65C= (p.Thr22=) | |
| MT | m.7650C>G | CA414793147 | MT-CO2 | c.65C>G (p.Thr22Ser) | |
| MT | m.7650C>T | CA414793149 | MT-CO2 | c.65C>T (p.Thr22Ile) | ClinVar dbSNP |
| MT | m.7651C>A | CA913177699 | MT-CO2 | c.66C>A (p.Thr22=) | |
| MT | m.7651C= | CA2573327842 | MT-CO2 | c.66C= (p.Thr22=) | |
| MT | m.7651C>G | CA913177700 | MT-CO2 | c.66C>G (p.Thr22=) | |
| MT | m.7651C>T | CA913177701 | MT-CO2 | c.66C>T (p.Thr22=) | |
| MT | m.7652T>A | CA414793151 | MT-CO2 | c.67T>A (p.Phe23Ile) | |
| MT | m.7652T>C | CA414793155 | MT-CO2 | c.67T>C (p.Phe23Leu) | |
| MT | m.7652T>G | CA414793153 | MT-CO2 | c.67T>G (p.Phe23Val) | |
| MT | m.7652T= | CA2573327844 | MT-CO2 | c.67T= (p.Phe23=) | |
| MT | m.7654del | CA2573104874 | MT-CO2 | c.69del (p.His24MetfsTer6) | |
| MT | m.7653T>A | CA414793157 | MT-CO2 | c.68T>A (p.Phe23Tyr) | |
| MT | m.7653T>C | CA414793159 | MT-CO2 | c.68T>C (p.Phe23Ser) | |
| MT | m.7653T>G | CA414793161 | MT-CO2 | c.68T>G (p.Phe23Cys) | |
| MT | m.7653T= | CA2573327845 | MT-CO2 | c.68T= (p.Phe23=) | |
| MT | m.7654T>A | CA414793163 | MT-CO2 | c.69T>A (p.Phe23Leu) | |
| MT | m.7654T>C | CA913177703 | MT-CO2 | c.69T>C (p.Phe23=) | |
| MT | m.7654T>G | CA414793165 | MT-CO2 | c.69T>G (p.Phe23Leu) | |
| MT | m.7654T= | CA2573327847 | MT-CO2 | c.69T= (p.Phe23=) | |
| MT | m.7655C>A | CA414793166 | MT-CO2 | c.70C>A (p.His24Asn) | |
| MT | m.7655C= | CA2573327850 | MT-CO2 | c.70C= (p.His24=) | |
| MT | m.7655C>G | CA414793168 | MT-CO2 | c.70C>G (p.His24Asp) | |
| MT | m.7655C>T | CA414793170 | MT-CO2 | c.70C>T (p.His24Tyr) | |
| MT | m.7656A= | CA2573327852 | MT-CO2 | c.71A= (p.His24=) | |
| MT | m.7656A>C | CA414793172 | MT-CO2 | c.71A>C (p.His24Pro) | |
| MT | m.7656A>G | CA414793173 | MT-CO2 | c.71A>G (p.His24Arg) | |
| MT | m.7656A>T | CA414793175 | MT-CO2 | c.71A>T (p.His24Leu) | |
| MT | m.7657T>A | CA414793177 | MT-CO2 | c.72T>A (p.His24Gln) | |
| MT | m.7657T>C | CA913177705 | MT-CO2 | c.72T>C (p.His24=) | dbSNP |
| MT | m.7657T>G | CA414793179 | MT-CO2 | c.72T>G (p.His24Gln) | |
| MT | m.7657T= | CA2499565269 | MT-CO2 | c.72T= (p.His24=) | |
| MT | m.7658G>A | CA414793185 | MT-CO2 | c.73G>A (p.Asp25Asn) | |
| MT | m.7658G>C | CA414793183 | MT-CO2 | c.73G>C (p.Asp25His) | |
| MT | m.7658G= | CA2573327855 | MT-CO2 | c.73G= (p.Asp25=) | |
| MT | m.7658G>T | CA414793182 | MT-CO2 | c.73G>T (p.Asp25Tyr) | |
| MT | m.7659A= | CA2573327857 | MT-CO2 | c.74A= (p.Asp25=) | |
| MT | m.7659A>C | CA414793187 | MT-CO2 | c.74A>C (p.Asp25Ala) | |
| MT | m.7659A>G | CA414793189 | MT-CO2 | c.74A>G (p.Asp25Gly) | |
| MT | m.7659A>T | CA414793190 | MT-CO2 | c.74A>T (p.Asp25Val) | |
| MT | m.7660T>A | CA414793192 | MT-CO2 | c.75T>A (p.Asp25Glu) | |
| MT | m.7660T>C | CA913177708 | MT-CO2 | c.75T>C (p.Asp25=) | dbSNP |
| MT | m.7660T>G | CA414793194 | MT-CO2 | c.75T>G (p.Asp25Glu) | |
| MT | m.7660T= | CA2499565270 | MT-CO2 | c.75T= (p.Asp25=) | |
| MT | m.7661C>A | CA414793196 | MT-CO2 | c.76C>A (p.His26Asn) | |
| MT | m.7661C= | CA2499565271 | MT-CO2 | c.76C= (p.His26=) | |
| MT | m.7661C>G | CA414793197 | MT-CO2 | c.76C>G (p.His26Asp) | |
| MT | m.7661C>T | CA414793199 | MT-CO2 | c.76C>T (p.His26Tyr) | dbSNP |
| MT | m.7661_7662insCCA | CA913190819 | MT-CO2 | c.76_77insCCA (p.His26delinsProAsn) | ClinVar dbSNP |
| MT | m.7662A= | CA2573327867 | MT-CO2 | c.77A= (p.His26=) | |
| MT | m.7662A>C | CA414793201 | MT-CO2 | c.77A>C (p.His26Pro) | |
| MT | m.7662A>G | CA414793203 | MT-CO2 | c.77A>G (p.His26Arg) | |
| MT | m.7662A>T | CA414793205 | MT-CO2 | c.77A>T (p.His26Leu) | |
| MT | m.7663C>A | CA414793207 | MT-CO2 | c.78C>A (p.His26Gln) | |
| MT | m.7663C= | CA2499565272 | MT-CO2 | c.78C= (p.His26=) | |
| MT | m.7663C>G | CA414793208 | MT-CO2 | c.78C>G (p.His26Gln) | |
| MT | m.7663C>T | CA913177718 | MT-CO2 | c.78C>T (p.His26=) | dbSNP |
| MT | m.7664G>A | CA337097672 | MT-CO2 | c.79G>A (p.Ala27Thr) | ClinVar dbSNP |
| MT | m.7664G>C | CA414793213 | MT-CO2 | c.79G>C (p.Ala27Pro) | |
| MT | m.7664G= | CA2499565273 | MT-CO2 | c.79G= (p.Ala27=) | |
| MT | m.7664G>T | CA414793211 | MT-CO2 | c.79G>T (p.Ala27Ser) | ClinVar dbSNP |
| MT | m.7665C>A | CA414793216 | MT-CO2 | c.80C>A (p.Ala27Asp) | |
| MT | m.7665C= | CA2573327873 | MT-CO2 | c.80C= (p.Ala27=) | |
| MT | m.7665C>G | CA414793217 | MT-CO2 | c.80C>G (p.Ala27Gly) | |
| MT | m.7665C>T | CA414793218 | MT-CO2 | c.80C>T (p.Ala27Val) | dbSNP |
| MT | m.7666C>A | CA913177730 | MT-CO2 | c.81C>A (p.Ala27=) | |
| MT | m.7666C= | CA2573327875 | MT-CO2 | c.81C= (p.Ala27=) | |
| MT | m.7666C>G | CA913177731 | MT-CO2 | c.81C>G (p.Ala27=) | |
| MT | m.7666C>T | CA913177734 | MT-CO2 | c.81C>T (p.Ala27=) | |
| MT | m.7667C>A | CA414793221 | MT-CO2 | c.82C>A (p.Leu28Ile) | |
| MT | m.7667C= | CA2573327877 | MT-CO2 | c.82C= (p.Leu28=) | |
| MT | m.7667C>G | CA414793223 | MT-CO2 | c.82C>G (p.Leu28Val) | |
| MT | m.7667C>T | CA414793224 | MT-CO2 | c.82C>T (p.Leu28Phe) | |
| MT | m.7668T>A | CA414793227 | MT-CO2 | c.83T>A (p.Leu28His) | |
| MT | m.7668T>C | CA414793229 | MT-CO2 | c.83T>C (p.Leu28Pro) | |
| MT | m.7668T>G | CA414793230 | MT-CO2 | c.83T>G (p.Leu28Arg) | |
| MT | m.7668T= | CA2499565274 | MT-CO2 | c.83T= (p.Leu28=) | |
| MT | m.7669C>A | CA913177736 | MT-CO2 | c.84C>A (p.Leu28=) | |
| MT | m.7669C= | CA2499565275 | MT-CO2 | c.84C= (p.Leu28=) | |
| MT | m.7669C>G | CA913177737 | MT-CO2 | c.84C>G (p.Leu28=) | |
| MT | m.7669C>T | CA913177738 | MT-CO2 | c.84C>T (p.Leu28=) | dbSNP |
| MT | m.7669_7670insCAC | CA913190820 | MT-CO2 | c.84_85insCAC (p.Leu28_Ile29insHis) | ClinVar dbSNP |
| MT | m.7670A= | CA2499565276 | MT-CO2 | c.85A= (p.Ile29=) | |
| MT | m.7670A>C | CA414793233 | MT-CO2 | c.85A>C (p.Ile29Leu) | |
| MT | m.7670A>G | CA414793234 | MT-CO2 | c.85A>G (p.Ile29Val) | |
| MT | m.7670A>T | CA337097674 | MT-CO2 | c.85A>T (p.Ile29Leu) | dbSNP |
| MT | m.7671T>A | CA120605 | MT-CO2 | c.86T>A (p.Ile29Lys) | ClinVar dbSNP |
| MT | m.7671T>C | CA414793238 | MT-CO2 | c.86T>C (p.Ile29Thr) | |
| MT | m.7671T>G | CA414793239 | MT-CO2 | c.86T>G (p.Ile29Arg) | |
| MT | m.7671T= | CA2499565277 | MT-CO2 | c.86T= (p.Ile29=) | |
| MT | m.7672A= | CA2573327883 | MT-CO2 | c.87A= (p.Ile29=) | |
| MT | m.7672A>C | CA913177748 | MT-CO2 | c.87A>C (p.Ile29=) | |
| MT | m.7672A>G | CA414793241 | MT-CO2 | c.87A>G (p.Ile29Met) | |
| MT | m.7672A>T | CA913177749 | MT-CO2 | c.87A>T (p.Ile29=) | |
| MT | m.7673A= | CA2499565278 | MT-CO2 | c.88A= (p.Ile30=) | |
| MT | m.7673A>C | CA414793244 | MT-CO2 | c.88A>C (p.Ile30Leu) | |
| MT | m.7673A>G | CA414793245 | MT-CO2 | c.88A>G (p.Ile30Val) | ClinVar dbSNP |
| MT | m.7673A>T | CA414793248 | MT-CO2 | c.88A>T (p.Ile30Phe) | |
| MT | m.7674T>A | CA414793250 | MT-CO2 | c.89T>A (p.Ile30Asn) | |
| MT | m.7674T>C | CA414793252 | MT-CO2 | c.89T>C (p.Ile30Thr) | ClinVar dbSNP |
| MT | m.7674T>G | CA414793254 | MT-CO2 | c.89T>G (p.Ile30Ser) | |
| MT | m.7674T= | CA2499565279 | MT-CO2 | c.89T= (p.Ile30=) | |
| MT | m.7675C>A | CA913177762 | MT-CO2 | c.90C>A (p.Ile30=) | |
| MT | m.7675C= | CA2499565280 | MT-CO2 | c.90C= (p.Ile30=) | |
| MT | m.7675C>G | CA414793255 | MT-CO2 | c.90C>G (p.Ile30Met) | |
| MT | m.7675C>T | CA913177763 | MT-CO2 | c.90C>T (p.Ile30=) | dbSNP |
| MT | m.7676A= | CA2573327891 | MT-CO2 | c.91A= (p.Ile31=) | |
| MT | m.7676A>C | CA414793257 | MT-CO2 | c.91A>C (p.Ile31Leu) | |
| MT | m.7676A>G | CA414793260 | MT-CO2 | c.91A>G (p.Ile31Val) | |
| MT | m.7676A>T | CA414793262 | MT-CO2 | c.91A>T (p.Ile31Phe) | |
| MT | m.7677T>A | CA414793264 | MT-CO2 | c.92T>A (p.Ile31Asn) | |
| MT | m.7677T>C | CA414793267 | MT-CO2 | c.92T>C (p.Ile31Thr) | |
| MT | m.7677T>G | CA414793266 | MT-CO2 | c.92T>G (p.Ile31Ser) | |
| MT | m.7677T= | CA2573327893 | MT-CO2 | c.92T= (p.Ile31=) | |
| MT | m.7678T>A | CA913177767 | MT-CO2 | c.93T>A (p.Ile31=) | |
| MT | m.7678T>C | CA913177768 | MT-CO2 | c.93T>C (p.Ile31=) | dbSNP |
| MT | m.7678T>G | CA414793270 | MT-CO2 | c.93T>G (p.Ile31Met) | |
| MT | m.7678T= | CA2499565281 | MT-CO2 | c.93T= (p.Ile31=) | |
| MT | m.7679T>A | CA414793274 | MT-CO2 | c.94T>A (p.Phe32Ile) | |
| MT | m.7679T>C | CA337097677 | MT-CO2 | c.94T>C (p.Phe32Leu) | ClinVar dbSNP |
| MT | m.7679T>G | CA414793272 | MT-CO2 | c.94T>G (p.Phe32Val) | |
| MT | m.7679T= | CA2499565282 | MT-CO2 | c.94T= (p.Phe32=) | |
| MT | m.7680T>A | CA414793276 | MT-CO2 | c.95T>A (p.Phe32Tyr) | |
| MT | m.7680T>C | CA337097679 | MT-CO2 | c.95T>C (p.Phe32Ser) | dbSNP |
| MT | m.7680T>G | CA414793279 | MT-CO2 | c.95T>G (p.Phe32Cys) | |
| MT | m.7680T= | CA2499565283 | MT-CO2 | c.95T= (p.Phe32=) | |
| MT | m.7680_7681insGTC | CA913190821 | MT-CO2 | c.95_96insGTC (p.Phe32delinsLeuSer) | ClinVar dbSNP |
| MT | m.7681C>A | CA414793281 | MT-CO2 | c.96C>A (p.Phe32Leu) | dbSNP |
| MT | m.7681C= | CA2499565284 | MT-CO2 | c.96C= (p.Phe32=) | |
| MT | m.7681C>G | CA414793282 | MT-CO2 | c.96C>G (p.Phe32Leu) | |
| MT | m.7681C>T | CA913177772 | MT-CO2 | c.96C>T (p.Phe32=) | dbSNP |
| MT | m.7682C>A | CA414793284 | MT-CO2 | c.97C>A (p.Leu33Ile) | |
| MT | m.7682C= | CA2573327900 | MT-CO2 | c.97C= (p.Leu33=) | |
| MT | m.7682C>G | CA414793286 | MT-CO2 | c.97C>G (p.Leu33Val) | |
| MT | m.7682C>T | CA414793288 | MT-CO2 | c.97C>T (p.Leu33Phe) | |
| MT | m.7683T>A | CA414793293 | MT-CO2 | c.98T>A (p.Leu33His) | |
| MT | m.7683T>C | CA414793290 | MT-CO2 | c.98T>C (p.Leu33Pro) | |
| MT | m.7683T>G | CA414793292 | MT-CO2 | c.98T>G (p.Leu33Arg) | |
| MT | m.7683T= | CA2573327902 | MT-CO2 | c.98T= (p.Leu33=) | |
| MT | m.7684T>A | CA337097681 | MT-CO2 | c.99T>A (p.Leu33=) | |
| MT | m.7684T>C | CA337097683 | MT-CO2 | c.99T>C (p.Leu33=) | dbSNP |
| MT | m.7684T>G | CA337097685 | MT-CO2 | c.99T>G (p.Leu33=) | |
| MT | m.7684T= | CA2499565285 | MT-CO2 | c.99T= (p.Leu33=) | |
| MT | m.7685A= | CA2499565286 | MT-CO2 | c.100A= (p.Ile34=) | |
| MT | m.7685A>C | CA414793299 | MT-CO2 | c.100A>C (p.Ile34Leu) | |
| MT | m.7685A>G | CA414793301 | MT-CO2 | c.100A>G (p.Ile34Val) | dbSNP |
| MT | m.7685A>T | CA414793302 | MT-CO2 | c.100A>T (p.Ile34Phe) | |
| MT | m.7686T>A | CA414793305 | MT-CO2 | c.101T>A (p.Ile34Asn) | |
| MT | m.7686T>C | CA414793307 | MT-CO2 | c.101T>C (p.Ile34Thr) | ClinVar dbSNP |
| MT | m.7686T>G | CA414793309 | MT-CO2 | c.101T>G (p.Ile34Ser) | |
| MT | m.7686T= | CA2499565287 | MT-CO2 | c.101T= (p.Ile34=) | |
| MT | m.7687C>A | CA913177789 | MT-CO2 | c.102C>A (p.Ile34=) | |
| MT | m.7687C= | CA2499565288 | MT-CO2 | c.102C= (p.Ile34=) | |
| MT | m.7687C>G | CA414793311 | MT-CO2 | c.102C>G (p.Ile34Met) | |
| MT | m.7687C>T | CA913177793 | MT-CO2 | c.102C>T (p.Ile34=) | dbSNP |
| MT | m.7688T>A | CA414793315 | MT-CO2 | c.103T>A (p.Cys35Ser) | |
| MT | m.7688T>C | CA414793317 | MT-CO2 | c.103T>C (p.Cys35Arg) | |
| MT | m.7688T>G | CA414793313 | MT-CO2 | c.103T>G (p.Cys35Gly) | |
| MT | m.7688T= | CA2573327914 | MT-CO2 | c.103T= (p.Cys35=) | |
| MT | m.7689G>A | CA414793319 | MT-CO2 | c.104G>A (p.Cys35Tyr) | COSMIC |
| MT | m.7689G>C | CA414793321 | MT-CO2 | c.104G>C (p.Cys35Ser) | |
| MT | m.7689G= | CA2573327916 | MT-CO2 | c.104G= (p.Cys35=) | |
| MT | m.7689G>T | CA414793322 | MT-CO2 | c.104G>T (p.Cys35Phe) | |
| MT | m.7690C>A | CA414793324 | MT-CO2 | c.105C>A (p.Cys35Ter) | |
| MT | m.7690C= | CA2499565289 | MT-CO2 | c.105C= (p.Cys35=) | |
| MT | m.7690C>G | CA414793326 | MT-CO2 | c.105C>G (p.Cys35Trp) | |
| MT | m.7690C>T | CA913177808 | MT-CO2 | c.105C>T (p.Cys35=) | dbSNP |
| MT | m.7691T>A | CA414793328 | MT-CO2 | c.106T>A (p.Phe36Ile) | |
| MT | m.7691T>C | CA414793330 | MT-CO2 | c.106T>C (p.Phe36Leu) | ClinVar dbSNP |
| MT | m.7691T>G | CA414793332 | MT-CO2 | c.106T>G (p.Phe36Val) | |
| MT | m.7691T= | CA2499565290 | MT-CO2 | c.106T= (p.Phe36=) | |
| MT | m.7692T>A | CA414793334 | MT-CO2 | c.107T>A (p.Phe36Tyr) | |
| MT | m.7692T>C | CA337097687 | MT-CO2 | c.107T>C (p.Phe36Ser) | dbSNP |
| MT | m.7692T>G | CA414793336 | MT-CO2 | c.107T>G (p.Phe36Cys) | |
| MT | m.7692T= | CA2499565291 | MT-CO2 | c.107T= (p.Phe36=) | |
| MT | m.7693C>A | CA414793338 | MT-CO2 | c.108C>A (p.Phe36Leu) | |
| MT | m.7693C= | CA2499565292 | MT-CO2 | c.108C= (p.Phe36=) | |
| MT | m.7693C>G | CA414793340 | MT-CO2 | c.108C>G (p.Phe36Leu) | |
| MT | m.7693C>T | CA645611389 | MT-CO2 | c.108C>T (p.Phe36=) | dbSNP COSMIC |
| MT | m.7694C>A | CA414793341 | MT-CO2 | c.109C>A (p.Leu37Ile) | |
| MT | m.7694C= | CA2499565293 | MT-CO2 | c.109C= (p.Leu37=) | |
| MT | m.7694C>G | CA414793343 | MT-CO2 | c.109C>G (p.Leu37Val) | |
| MT | m.7694C>T | CA913177846 | MT-CO2 | c.109C>T (p.Leu37=) | dbSNP |
| MT | m.7695T>A | CA414793346 | MT-CO2 | c.110T>A (p.Leu37Gln) | |
| MT | m.7695T>C | CA414793347 | MT-CO2 | c.110T>C (p.Leu37Pro) | |
| MT | m.7695T>G | CA414793349 | MT-CO2 | c.110T>G (p.Leu37Arg) | |
| MT | m.7695T= | CA2573327925 | MT-CO2 | c.110T= (p.Leu37=) | |
| MT | m.7696A= | CA2513193992 | MT-CO2 | c.111A= (p.Leu37=) | |
| MT | m.7696A>C | CA913177850 | MT-CO2 | c.111A>C (p.Leu37=) | |
| MT | m.7696A>G | CA913177849 | MT-CO2 | c.111A>G (p.Leu37=) | |
| MT | m.7696A>T | CA913177853 | MT-CO2 | c.111A>T (p.Leu37=) | |
| MT | m.7697G>A | CA337097689 | MT-CO2 | c.112G>A (p.Val38Ile) | ClinVar dbSNP |
| MT | m.7697G>C | CA414793352 | MT-CO2 | c.112G>C (p.Val38Leu) | |
| MT | m.7697G= | CA2499565294 | MT-CO2 | c.112G= (p.Val38=) | |
| MT | m.7697G>T | CA414793354 | MT-CO2 | c.112G>T (p.Val38Phe) | |
| MT | m.7698T>A | CA414793356 | MT-CO2 | c.113T>A (p.Val38Asp) | |
| MT | m.7698T>C | CA414793357 | MT-CO2 | c.113T>C (p.Val38Ala) | ClinVar dbSNP |
| MT | m.7698T>G | CA414793359 | MT-CO2 | c.113T>G (p.Val38Gly) | |
| MT | m.7698T= | CA2499565295 | MT-CO2 | c.113T= (p.Val38=) | |
| MT | m.7699C>A | CA913177855 | MT-CO2 | c.114C>A (p.Val38=) | |
| MT | m.7699C= | CA2499565296 | MT-CO2 | c.114C= (p.Val38=) | |
| MT | m.7699C>G | CA913177858 | MT-CO2 | c.114C>G (p.Val38=) | |
| MT | m.7699C>T | CA913177856 | MT-CO2 | c.114C>T (p.Val38=) | dbSNP |
| MT | m.7700C>A | CA414793361 | MT-CO2 | c.115C>A (p.Leu39Met) | |
| MT | m.7700C= | CA2573327927 | MT-CO2 | c.115C= (p.Leu39=) | |
| MT | m.7700C>G | CA414793362 | MT-CO2 | c.115C>G (p.Leu39Val) | |
| MT | m.7700C>T | CA913177859 | MT-CO2 | c.115C>T (p.Leu39=) | |
| MT | m.7701T>A | CA414793368 | MT-CO2 | c.116T>A (p.Leu39Gln) | |
| MT | m.7701T>C | CA414793364 | MT-CO2 | c.116T>C (p.Leu39Pro) | dbSNP |
| MT | m.7701T>G | CA414793366 | MT-CO2 | c.116T>G (p.Leu39Arg) | |
| MT | m.7701T= | CA2499565297 | MT-CO2 | c.116T= (p.Leu39=) | |
| MT | m.7702G>A | CA913177864 | MT-CO2 | c.117G>A (p.Leu39=) | dbSNP |
| MT | m.7702G>C | CA913177863 | MT-CO2 | c.117G>C (p.Leu39=) | |
| MT | m.7702G= | CA2499565298 | MT-CO2 | c.117G= (p.Leu39=) | |
| MT | m.7702G>T | CA913177862 | MT-CO2 | c.117G>T (p.Leu39=) | |
| MT | m.7703T>A | CA414793370 | MT-CO2 | c.118T>A (p.Tyr40Asn) | |
| MT | m.7703T>C | CA414793373 | MT-CO2 | c.118T>C (p.Tyr40His) | |
| MT | m.7703T>G | CA414793371 | MT-CO2 | c.118T>G (p.Tyr40Asp) | |
| MT | m.7703T= | CA2573327931 | MT-CO2 | c.118T= (p.Tyr40=) | |
| MT | m.7704A= | CA2573327933 | MT-CO2 | c.119A= (p.Tyr40=) | |
| MT | m.7704A>C | CA414793376 | MT-CO2 | c.119A>C (p.Tyr40Ser) | |
| MT | m.7704A>G | CA414793377 | MT-CO2 | c.119A>G (p.Tyr40Cys) | |
| MT | m.7704A>T | CA414793379 | MT-CO2 | c.119A>T (p.Tyr40Phe) | |
| MT | m.7705T>A | CA414793381 | MT-CO2 | c.120T>A (p.Tyr40Ter) | |
| MT | m.7705T>C | CA913177868 | MT-CO2 | c.120T>C (p.Tyr40=) | dbSNP |
| MT | m.7705T>G | CA414793383 | MT-CO2 | c.120T>G (p.Tyr40Ter) | |
| MT | m.7705T= | CA2499565299 | MT-CO2 | c.120T= (p.Tyr40=) | |
| MT | m.7706G>A | CA414793385 | MT-CO2 | c.121G>A (p.Ala41Thr) | ClinVar dbSNP |
| MT | m.7706G>C | CA414793387 | MT-CO2 | c.121G>C (p.Ala41Pro) | |
| MT | m.7706G= | CA2499565300 | MT-CO2 | c.121G= (p.Ala41=) | |
| MT | m.7706G>T | CA414793388 | MT-CO2 | c.121G>T (p.Ala41Ser) | |
| MT | m.7707C>A | CA414793390 | MT-CO2 | c.122C>A (p.Ala41Asp) | |
| MT | m.7707C= | CA2573327937 | MT-CO2 | c.122C= (p.Ala41=) | |
| MT | m.7707C>G | CA414793392 | MT-CO2 | c.122C>G (p.Ala41Gly) | |
| MT | m.7707C>T | CA414793394 | MT-CO2 | c.122C>T (p.Ala41Val) | |
| MT | m.7708C>A | CA913177878 | MT-CO2 | c.123C>A (p.Ala41=) | |
| MT | m.7708C= | CA2499565301 | MT-CO2 | c.123C= (p.Ala41=) | |
| MT | m.7708C>G | CA913177879 | MT-CO2 | c.123C>G (p.Ala41=) | |
| MT | m.7708C>T | CA913177875 | MT-CO2 | c.123C>T (p.Ala41=) | dbSNP |
| MT | m.7709C>A | CA414793400 | MT-CO2 | c.124C>A (p.Leu42Ile) | |
| MT | m.7709C= | CA2573327943 | MT-CO2 | c.124C= (p.Leu42=) | |
| MT | m.7709C>G | CA414793398 | MT-CO2 | c.124C>G (p.Leu42Val) | |
| MT | m.7709C>T | CA414793396 | MT-CO2 | c.124C>T (p.Leu42Phe) | |
| MT | m.7710T>A | CA414793402 | MT-CO2 | c.125T>A (p.Leu42His) | |
| MT | m.7710T>C | CA414793404 | MT-CO2 | c.125T>C (p.Leu42Pro) | dbSNP |
| MT | m.7710T>G | CA414793405 | MT-CO2 | c.125T>G (p.Leu42Arg) | |
| MT | m.7710T= | CA2499565302 | MT-CO2 | c.125T= (p.Leu42=) | |
| MT | m.7713del | CA2573104875 | MT-CO2 | c.128del (p.Phe43SerfsTer2) | |
| MT | m.7711T>A | CA913177889 | MT-CO2 | c.126T>A (p.Leu42=) | |
| MT | m.7711T>C | CA337097691 | MT-CO2 | c.126T>C (p.Leu42=) | dbSNP |
| MT | m.7711T>G | CA913177888 | MT-CO2 | c.126T>G (p.Leu42=) | |
| MT | m.7711T= | CA2499565303 | MT-CO2 | c.126T= (p.Leu42=) | |
| MT | m.7712T>A | CA414793408 | MT-CO2 | c.127T>A (p.Phe43Ile) | |
| MT | m.7712T>C | CA414793410 | MT-CO2 | c.127T>C (p.Phe43Leu) | |
| MT | m.7712T>G | CA414793411 | MT-CO2 | c.127T>G (p.Phe43Val) | |
| MT | m.7712T= | CA2573327948 | MT-CO2 | c.127T= (p.Phe43=) | |
| MT | m.7713T>A | CA414793415 | MT-CO2 | c.128T>A (p.Phe43Tyr) | |
| MT | m.7713T>C | CA414793417 | MT-CO2 | c.128T>C (p.Phe43Ser) | ClinVar dbSNP |
| MT | m.7713T>G | CA414793419 | MT-CO2 | c.128T>G (p.Phe43Cys) | |
| MT | m.7713T= | CA2499565304 | MT-CO2 | c.128T= (p.Phe43=) | |
| MT | m.7714C>A | CA414793421 | MT-CO2 | c.129C>A (p.Phe43Leu) | |
| MT | m.7714C= | CA2573327954 | MT-CO2 | c.129C= (p.Phe43=) | |
| MT | m.7714C>G | CA414793422 | MT-CO2 | c.129C>G (p.Phe43Leu) | |
| MT | m.7714C>T | CA913177891 | MT-CO2 | c.129C>T (p.Phe43=) | |
| MT | m.7715C>A | CA414793424 | MT-CO2 | c.130C>A (p.Leu44Ile) | |
| MT | m.7715C= | CA2499565305 | MT-CO2 | c.130C= (p.Leu44=) | |
| MT | m.7715C>G | CA414793426 | MT-CO2 | c.130C>G (p.Leu44Val) | |
| MT | m.7715C>T | CA913177895 | MT-CO2 | c.130C>T (p.Leu44=) | dbSNP |
| MT | m.7716T>A | CA414793428 | MT-CO2 | c.131T>A (p.Leu44Gln) | |
| MT | m.7716T>C | CA414793430 | MT-CO2 | c.131T>C (p.Leu44Pro) | |
| MT | m.7716T>G | CA414793432 | MT-CO2 | c.131T>G (p.Leu44Arg) | |
| MT | m.7716T= | CA2573327959 | MT-CO2 | c.131T= (p.Leu44=) | |
| MT | m.7717A= | CA2573327961 | MT-CO2 | c.132A= (p.Leu44=) | |
| MT | m.7717A>C | CA913177899 | MT-CO2 | c.132A>C (p.Leu44=) | |
| MT | m.7717A>G | CA913177900 | MT-CO2 | c.132A>G (p.Leu44=) | dbSNP |
| MT | m.7717A>T | CA913177905 | MT-CO2 | c.132A>T (p.Leu44=) | |
| MT | m.7718A= | CA2499565306 | MT-CO2 | c.133A= (p.Thr45=) | |
| MT | m.7718A>C | CA414793434 | MT-CO2 | c.133A>C (p.Thr45Pro) | |
| MT | m.7718A>G | CA414793436 | MT-CO2 | c.133A>G (p.Thr45Ala) | ClinVar dbSNP |
| MT | m.7718A>T | CA414793438 | MT-CO2 | c.133A>T (p.Thr45Ser) | |
| MT | m.7719C>A | CA414793439 | MT-CO2 | c.134C>A (p.Thr45Lys) | |
| MT | m.7719C= | CA2573327966 | MT-CO2 | c.134C= (p.Thr45=) | |
| MT | m.7719C>G | CA414793441 | MT-CO2 | c.134C>G (p.Thr45Arg) | |
| MT | m.7719C>T | CA414793443 | MT-CO2 | c.134C>T (p.Thr45Ile) | |
| MT | m.7720A= | CA2573327970 | MT-CO2 | c.135A= (p.Thr45=) | |
| MT | m.7720A>C | CA913177910 | MT-CO2 | c.135A>C (p.Thr45=) | |
| MT | m.7720A>G | CA913177911 | MT-CO2 | c.135A>G (p.Thr45=) | |
| MT | m.7720A>T | CA913177912 | MT-CO2 | c.135A>T (p.Thr45=) | |
| MT | m.7721C>A | CA414793445 | MT-CO2 | c.136C>A (p.Leu46Ile) | |
| MT | m.7721C= | CA2573327971 | MT-CO2 | c.136C= (p.Leu46=) | |
| MT | m.7721C>G | CA414793446 | MT-CO2 | c.136C>G (p.Leu46Val) | |
| MT | m.7721C>T | CA414793448 | MT-CO2 | c.136C>T (p.Leu46Phe) | |
| MT | m.7722T>A | CA414793453 | MT-CO2 | c.137T>A (p.Leu46His) | |
| MT | m.7722T>C | CA414793452 | MT-CO2 | c.137T>C (p.Leu46Pro) | |
| MT | m.7722T>G | CA414793450 | MT-CO2 | c.137T>G (p.Leu46Arg) | |
| MT | m.7722T= | CA2573327973 | MT-CO2 | c.137T= (p.Leu46=) | |
| MT | m.7723C>A | CA913177915 | MT-CO2 | c.138C>A (p.Leu46=) | |
| MT | m.7723C= | CA2573327978 | MT-CO2 | c.138C= (p.Leu46=) | |
| MT | m.7723C>G | CA913177916 | MT-CO2 | c.138C>G (p.Leu46=) | |
| MT | m.7723C>T | CA913177919 | MT-CO2 | c.138C>T (p.Leu46=) | |
| MT | m.7724A= | CA2499565307 | MT-CO2 | c.139A= (p.Thr47=) | |
| MT | m.7724A>C | CA414793455 | MT-CO2 | c.139A>C (p.Thr47Pro) | |
| MT | m.7724A>G | CA414793457 | MT-CO2 | c.139A>G (p.Thr47Ala) | |
| MT | m.7724A>T | CA414793459 | MT-CO2 | c.139A>T (p.Thr47Ser) | ClinVar dbSNP |
| MT | m.7725C>A | CA414793461 | MT-CO2 | c.140C>A (p.Thr47Lys) | |
| MT | m.7725C= | CA2573327982 | MT-CO2 | c.140C= (p.Thr47=) | |
| MT | m.7725C>G | CA414793463 | MT-CO2 | c.140C>G (p.Thr47Arg) | |
| MT | m.7725C>T | CA414793465 | MT-CO2 | c.140C>T (p.Thr47Ile) | |
| MT | m.7726A= | CA2573327984 | MT-CO2 | c.141A= (p.Thr47=) | |
| MT | m.7726A>C | CA913177928 | MT-CO2 | c.141A>C (p.Thr47=) | |
| MT | m.7726A>G | CA913177927 | MT-CO2 | c.141A>G (p.Thr47=) | |
| MT | m.7726A>T | CA913177925 | MT-CO2 | c.141A>T (p.Thr47=) | |
| MT | m.7727A= | CA2499565308 | MT-CO2 | c.142A= (p.Thr48=) | |
| MT | m.7727A>C | CA414793466 | MT-CO2 | c.142A>C (p.Thr48Pro) | |
| MT | m.7727A>G | CA414793467 | MT-CO2 | c.142A>G (p.Thr48Ala) | dbSNP |
| MT | m.7727A>T | CA414793469 | MT-CO2 | c.142A>T (p.Thr48Ser) | |
| MT | m.7728C>A | CA414793471 | MT-CO2 | c.143C>A (p.Thr48Lys) | |
| MT | m.7728C= | CA2573327987 | MT-CO2 | c.143C= (p.Thr48=) | |
| MT | m.7728C>G | CA414793473 | MT-CO2 | c.143C>G (p.Thr48Arg) | |
| MT | m.7728C>T | CA414793474 | MT-CO2 | c.143C>T (p.Thr48Ile) | |
| MT | m.7729A= | CA2499565309 | MT-CO2 | c.144A= (p.Thr48=) | |
| MT | m.7729A>C | CA913177937 | MT-CO2 | c.144A>C (p.Thr48=) | |
| MT | m.7729A>G | CA913177936 | MT-CO2 | c.144A>G (p.Thr48=) | dbSNP |
| MT | m.7729A>T | CA913177935 | MT-CO2 | c.144A>T (p.Thr48=) | |
| MT | m.7730A= | CA2573327993 | MT-CO2 | c.145A= (p.Lys49=) | |
| MT | m.7730A>C | CA414793480 | MT-CO2 | c.145A>C (p.Lys49Gln) | |
| MT | m.7730A>G | CA414793477 | MT-CO2 | c.145A>G (p.Lys49Glu) | |
| MT | m.7730A>T | CA414793478 | MT-CO2 | c.145A>T (p.Lys49Ter) | |
| MT | m.7731_11256del | CA645373334 | ClinVar | ||
| MT | m.7731A= | CA2573327995 | MT-CO2 | c.146A= (p.Lys49=) | |
| MT | m.7731A>C | CA414793482 | MT-CO2 | c.146A>C (p.Lys49Thr) | |
| MT | m.7731A>G | CA414793484 | MT-CO2 | c.146A>G (p.Lys49Arg) | |
| MT | m.7731A>T | CA414793486 | MT-CO2 | c.146A>T (p.Lys49Ile) | |
| MT | m.7732A= | CA2499565310 | MT-CO2 | c.147A= (p.Lys49=) | |
| MT | m.7732A>C | CA414793487 | MT-CO2 | c.147A>C (p.Lys49Asn) | |
| MT | m.7732A>G | CA913177953 | MT-CO2 | c.147A>G (p.Lys49=) | dbSNP |
| MT | m.7732A>T | CA414793489 | MT-CO2 | c.147A>T (p.Lys49Asn) | |
| MT | m.7733C>A | CA414793491 | MT-CO2 | c.148C>A (p.Leu50Ile) | |
| MT | m.7733C= | CA2573327998 | MT-CO2 | c.148C= (p.Leu50=) | |
| MT | m.7733C>G | CA414793493 | MT-CO2 | c.148C>G (p.Leu50Val) | |
| MT | m.7733C>T | CA913177954 | MT-CO2 | c.148C>T (p.Leu50=) |