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.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.9062_16052del | CA2580618296 | |||
| MT | m.9540_9561del | CA2740098256 | MT-CO3 | c.334_355del (p.Leu112GlnfsTer6) | |
| MT | m.9538_9554del | CA2573105035 | MT-CO3 | c.332_348del (p.Gln111ProfsTer?) | |
| MT | m.9546G>A | CA414803183 | MT-CO3 | c.340G>A (p.Gly114Arg) | |
| MT | m.9546G>C | CA414803184 | MT-CO3 | c.340G>C (p.Gly114Arg) | |
| MT | m.9546G= | CA2573323453 | MT-CO3 | c.340G= (p.Gly114=) | |
| MT | m.9546G>T | CA414803185 | MT-CO3 | c.340G>T (p.Gly114Trp) | |
| MT | m.9546_9548dup | CA2740098259 | MT-CO3 | c.340_342dup (p.Gly114_His115insGly) | |
| MT | m.9547G>A | CA414803186 | MT-CO3 | c.341G>A (p.Gly114Glu) | |
| MT | m.9547G>C | CA414803188 | MT-CO3 | c.341G>C (p.Gly114Ala) | |
| MT | m.9547G= | CA2573323457 | MT-CO3 | c.341G= (p.Gly114=) | |
| MT | m.9547G>T | CA414803187 | MT-CO3 | c.341G>T (p.Gly114Val) | |
| MT | m.9548G>A | CA337098459 | MT-CO3 | c.342G>A (p.Gly114=) | dbSNP |
| MT | m.9548G>C | CA337098463 | MT-CO3 | c.342G>C (p.Gly114=) | |
| MT | m.9548G= | CA2499566349 | MT-CO3 | c.342G= (p.Gly114=) | |
| MT | m.9548G>T | CA337098468 | MT-CO3 | c.342G>T (p.Gly114=) | |
| MT | m.9549C>A | CA414803189 | MT-CO3 | c.343C>A (p.His115Asn) | |
| MT | m.9549C= | CA2499566350 | MT-CO3 | c.343C= (p.His115=) | |
| MT | m.9549C>G | CA414803190 | MT-CO3 | c.343C>G (p.His115Asp) | |
| MT | m.9549C>T | CA414803191 | MT-CO3 | c.343C>T (p.His115Tyr) | ClinVar dbSNP |
| MT | m.9550A= | CA2573323472 | MT-CO3 | c.344A= (p.His115=) | |
| MT | m.9550A>C | CA414803192 | MT-CO3 | c.344A>C (p.His115Pro) | |
| MT | m.9550A>G | CA414803193 | MT-CO3 | c.344A>G (p.His115Arg) | |
| MT | m.9550A>T | CA414803194 | MT-CO3 | c.344A>T (p.His115Leu) | |
| MT | m.9551C>A | CA414803195 | MT-CO3 | c.345C>A (p.His115Gln) | |
| MT | m.9551C= | CA2573323474 | MT-CO3 | c.345C= (p.His115=) | |
| MT | m.9551C>G | CA414803196 | MT-CO3 | c.345C>G (p.His115Gln) | |
| MT | m.9551C>T | CA913181812 | MT-CO3 | c.345C>T (p.His115=) | |
| MT | m.9552T>A | CA414803197 | MT-CO3 | c.346T>A (p.Trp116Arg) | |
| MT | m.9552T>C | CA414803198 | MT-CO3 | c.346T>C (p.Trp116Arg) | |
| MT | m.9552T>G | CA414803199 | MT-CO3 | c.346T>G (p.Trp116Gly) | |
| MT | m.9552T= | CA2573323480 | MT-CO3 | c.346T= (p.Trp116=) | |
| MT | m.9553G>A | CA414803200 | MT-CO3 | c.347G>A (p.Trp116Ter) | |
| MT | m.9553G>C | CA414803201 | MT-CO3 | c.347G>C (p.Trp116Ser) | |
| MT | m.9553G= | CA2573323482 | MT-CO3 | c.347G= (p.Trp116=) | |
| MT | m.9553G>T | CA414803202 | MT-CO3 | c.347G>T (p.Trp116Leu) | |
| MT | m.9554G>A | CA337098471 | MT-CO3 | c.348G>A (p.Trp116Ter) | dbSNP COSMIC COSMIC |
| MT | m.9554G>C | CA414803203 | MT-CO3 | c.348G>C (p.Trp116Cys) | |
| MT | m.9554G= | CA2499566351 | MT-CO3 | c.348G= (p.Trp116=) | |
| MT | m.9554G>T | CA414803204 | MT-CO3 | c.348G>T (p.Trp116Cys) | |
| MT | m.9555C>A | CA414803205 | MT-CO3 | c.349C>A (p.Pro117Thr) | |
| MT | m.9555C= | CA2499566352 | MT-CO3 | c.349C= (p.Pro117=) | |
| MT | m.9555C>G | CA414803206 | MT-CO3 | c.349C>G (p.Pro117Ala) | |
| MT | m.9555C>T | CA337098475 | MT-CO3 | c.349C>T (p.Pro117Ser) | dbSNP |
| MT | m.9559dup | CA2573105036 | MT-CO3 | c.353dup (p.Thr119AsnfsTer?) | |
| MT | m.9559del | CA2573335120 | MT-CO3 | c.353del (p.Pro118GlnfsTer7) | |
| MT | m.9556C>A | CA414803209 | MT-CO3 | c.350C>A (p.Pro117His) | |
| MT | m.9556C= | CA2573323491 | MT-CO3 | c.350C= (p.Pro117=) | |
| MT | m.9556C>G | CA414803208 | MT-CO3 | c.350C>G (p.Pro117Arg) | |
| MT | m.9556C>T | CA414803207 | MT-CO3 | c.350C>T (p.Pro117Leu) | |
| MT | m.9557C>A | CA913181820 | MT-CO3 | c.351C>A (p.Pro117=) | |
| MT | m.9557C= | CA2499566353 | MT-CO3 | c.351C= (p.Pro117=) | |
| MT | m.9557C>G | CA913181819 | MT-CO3 | c.351C>G (p.Pro117=) | |
| MT | m.9557C>T | CA913181818 | MT-CO3 | c.351C>T (p.Pro117=) | dbSNP |
| MT | m.9558C>A | CA414803210 | MT-CO3 | c.352C>A (p.Pro118Thr) | |
| MT | m.9558C= | CA2573323495 | MT-CO3 | c.352C= (p.Pro118=) | |
| MT | m.9558C>G | CA414803211 | MT-CO3 | c.352C>G (p.Pro118Ala) | |
| MT | m.9558C>T | CA414803212 | MT-CO3 | c.352C>T (p.Pro118Ser) | |
| MT | m.9559C>A | CA414803213 | MT-CO3 | c.353C>A (p.Pro118Gln) | |
| MT | m.9559C= | CA2499566354 | MT-CO3 | c.353C= (p.Pro118=) | |
| MT | m.9559C>G | CA337098478 | MT-CO3 | c.353C>G (p.Pro118Arg) | dbSNP |
| MT | m.9559C>T | CA414803214 | MT-CO3 | c.353C>T (p.Pro118Leu) | |
| MT | m.9560A= | CA2499566355 | MT-CO3 | c.354A= (p.Pro118=) | |
| MT | m.9560A>C | CA913181823 | MT-CO3 | c.354A>C (p.Pro118=) | |
| MT | m.9560A>G | CA337098481 | MT-CO3 | c.354A>G (p.Pro118=) | dbSNP |
| MT | m.9560A>T | CA913181822 | MT-CO3 | c.354A>T (p.Pro118=) | |
| MT | m.9560_9568del | CA2573105037 | MT-CO3 | c.354_362del (p.Thr119_Ile121del) | |
| MT | m.9561A= | CA2499566356 | MT-CO3 | c.355A= (p.Thr119=) | |
| MT | m.9561A>C | CA414803215 | MT-CO3 | c.355A>C (p.Thr119Pro) | |
| MT | m.9561A>G | CA414803216 | MT-CO3 | c.355A>G (p.Thr119Ala) | dbSNP |
| MT | m.9561A>T | CA414803217 | MT-CO3 | c.355A>T (p.Thr119Ser) | |
| MT | m.9562C>A | CA414803218 | MT-CO3 | c.356C>A (p.Thr119Lys) | |
| MT | m.9562C= | CA2573323500 | MT-CO3 | c.356C= (p.Thr119=) | |
| MT | m.9562C>G | CA414803219 | MT-CO3 | c.356C>G (p.Thr119Arg) | |
| MT | m.9562C>T | CA414803220 | MT-CO3 | c.356C>T (p.Thr119Ile) | |
| MT | m.9563A= | CA2573323503 | MT-CO3 | c.357A= (p.Thr119=) | |
| MT | m.9563A>C | CA913181825 | MT-CO3 | c.357A>C (p.Thr119=) | |
| MT | m.9563A>G | CA913181826 | MT-CO3 | c.357A>G (p.Thr119=) | dbSNP |
| MT | m.9563A>T | CA913181824 | MT-CO3 | c.357A>T (p.Thr119=) | |
| MT | m.9564G>A | CA414803223 | MT-CO3 | c.358G>A (p.Gly120Ser) | ClinVar dbSNP |
| MT | m.9564G>C | CA414803222 | MT-CO3 | c.358G>C (p.Gly120Arg) | |
| MT | m.9564G= | CA2499566357 | MT-CO3 | c.358G= (p.Gly120=) | |
| MT | m.9564G>T | CA414803221 | MT-CO3 | c.358G>T (p.Gly120Cys) | |
| MT | m.9565G>A | CA414803224 | MT-CO3 | c.359G>A (p.Gly120Asp) | |
| MT | m.9565G>C | CA414803225 | MT-CO3 | c.359G>C (p.Gly120Ala) | |
| MT | m.9565G= | CA2573323508 | MT-CO3 | c.359G= (p.Gly120=) | |
| MT | m.9565G>T | CA414803226 | MT-CO3 | c.359G>T (p.Gly120Val) | |
| MT | m.9566C>A | CA913181833 | MT-CO3 | c.360C>A (p.Gly120=) | |
| MT | m.9566C= | CA2499566358 | MT-CO3 | c.360C= (p.Gly120=) | |
| MT | m.9566C>G | CA337098484 | MT-CO3 | c.360C>G (p.Gly120=) | dbSNP |
| MT | m.9566C>T | CA913181832 | MT-CO3 | c.360C>T (p.Gly120=) | dbSNP |
| MT | m.9567A= | CA2573323513 | MT-CO3 | c.361A= (p.Ile121=) | |
| MT | m.9567A>C | CA414803227 | MT-CO3 | c.361A>C (p.Ile121Leu) | |
| MT | m.9567A>G | CA414803228 | MT-CO3 | c.361A>G (p.Ile121Val) | |
| MT | m.9567A>T | CA414803229 | MT-CO3 | c.361A>T (p.Ile121Phe) | |
| MT | m.9568T>A | CA414803230 | MT-CO3 | c.362T>A (p.Ile121Asn) | |
| MT | m.9568T>C | CA414803231 | MT-CO3 | c.362T>C (p.Ile121Thr) | ClinVar dbSNP |
| MT | m.9568T>G | CA414803232 | MT-CO3 | c.362T>G (p.Ile121Ser) | |
| MT | m.9568T= | CA2499566359 | MT-CO3 | c.362T= (p.Ile121=) | |
| MT | m.9569C>A | CA913181834 | MT-CO3 | c.363C>A (p.Ile121=) | |
| MT | m.9569C= | CA2499566360 | MT-CO3 | c.363C= (p.Ile121=) | |
| MT | m.9569C>G | CA414803233 | MT-CO3 | c.363C>G (p.Ile121Met) | |
| MT | m.9569C>T | CA913181836 | MT-CO3 | c.363C>T (p.Ile121=) | dbSNP |
| MT | m.9570A= | CA2573323523 | MT-CO3 | c.364A= (p.Thr122=) | |
| MT | m.9570A>C | CA414803236 | MT-CO3 | c.364A>C (p.Thr122Pro) | |
| MT | m.9570A>G | CA414803235 | MT-CO3 | c.364A>G (p.Thr122Ala) | |
| MT | m.9570A>T | CA414803234 | MT-CO3 | c.364A>T (p.Thr122Ser) | |
| MT | m.9571C>A | CA414803237 | MT-CO3 | c.365C>A (p.Thr122Asn) | |
| MT | m.9571C= | CA2499566361 | MT-CO3 | c.365C= (p.Thr122=) | |
| MT | m.9571C>G | CA414803238 | MT-CO3 | c.365C>G (p.Thr122Ser) | |
| MT | m.9571C>T | CA414803239 | MT-CO3 | c.365C>T (p.Thr122Ile) | ClinVar dbSNP |
| MT | m.9572C>A | CA913181839 | MT-CO3 | c.366C>A (p.Thr122=) | |
| MT | m.9572C= | CA2573323529 | MT-CO3 | c.366C= (p.Thr122=) | |
| MT | m.9572C>G | CA913181840 | MT-CO3 | c.366C>G (p.Thr122=) | |
| MT | m.9572C>T | CA913181841 | MT-CO3 | c.366C>T (p.Thr122=) | |
| MT | m.9573C>A | CA414803240 | MT-CO3 | c.367C>A (p.Pro123Thr) | |
| MT | m.9573C= | CA2573323532 | MT-CO3 | c.367C= (p.Pro123=) | |
| MT | m.9573C>G | CA414803241 | MT-CO3 | c.367C>G (p.Pro123Ala) | |
| MT | m.9573C>T | CA414803242 | MT-CO3 | c.367C>T (p.Pro123Ser) | |
| MT | m.9574C>A | CA414803243 | MT-CO3 | c.368C>A (p.Pro123Gln) | |
| MT | m.9574C= | CA2573323537 | MT-CO3 | c.368C= (p.Pro123=) | |
| MT | m.9574C>G | CA414803244 | MT-CO3 | c.368C>G (p.Pro123Arg) | |
| MT | m.9574C>T | CA414803245 | MT-CO3 | c.368C>T (p.Pro123Leu) | |
| MT | m.9575G>A | CA337098488 | MT-CO3 | c.369G>A (p.Pro123=) | dbSNP COSMIC COSMIC |
| MT | m.9575G>C | CA913181842 | MT-CO3 | c.369G>C (p.Pro123=) | |
| MT | m.9575G= | CA2499566362 | MT-CO3 | c.369G= (p.Pro123=) | |
| MT | m.9575G>T | CA913181843 | MT-CO3 | c.369G>T (p.Pro123=) | |
| MT | m.9576C>A | CA414803246 | MT-CO3 | c.370C>A (p.Leu124Ile) | |
| MT | m.9576C= | CA2573323540 | MT-CO3 | c.370C= (p.Leu124=) | |
| MT | m.9576C>G | CA414803247 | MT-CO3 | c.370C>G (p.Leu124Val) | |
| MT | m.9576C>T | CA913181844 | MT-CO3 | c.370C>T (p.Leu124=) | |
| MT | m.9577T>A | CA337098490 | MT-CO3 | c.371T>A (p.Leu124Gln) | |
| MT | m.9577T>C | CA337098493 | MT-CO3 | c.371T>C (p.Leu124Pro) | ClinVar dbSNP |
| MT | m.9577T>G | CA337098495 | MT-CO3 | c.371T>G (p.Leu124Arg) | |
| MT | m.9577T= | CA2499566363 | MT-CO3 | c.371T= (p.Leu124=) | |
| MT | m.9577_9581del | CA2573105038 | MT-CO3 | c.371_375del (p.Leu124ProfsTer25) | |
| MT | m.9578A= | CA2573323548 | MT-CO3 | c.372A= (p.Leu124=) | |
| MT | m.9578A>C | CA913181845 | MT-CO3 | c.372A>C (p.Leu124=) | |
| MT | m.9578A>G | CA913181847 | MT-CO3 | c.372A>G (p.Leu124=) | dbSNP |
| MT | m.9578A>T | CA913181848 | MT-CO3 | c.372A>T (p.Leu124=) | |
| MT | m.9579A= | CA2573323550 | MT-CO3 | c.373A= (p.Asn125=) | |
| MT | m.9579A>C | CA414803248 | MT-CO3 | c.373A>C (p.Asn125His) | |
| MT | m.9579A>G | CA414803250 | MT-CO3 | c.373A>G (p.Asn125Asp) | |
| MT | m.9579A>T | CA414803249 | MT-CO3 | c.373A>T (p.Asn125Tyr) | |
| MT | m.9580A= | CA2499566364 | MT-CO3 | c.374A= (p.Asn125=) | |
| MT | m.9580A>C | CA414803251 | MT-CO3 | c.374A>C (p.Asn125Thr) | ClinVar dbSNP |
| MT | m.9580A>G | CA414803252 | MT-CO3 | c.374A>G (p.Asn125Ser) | |
| MT | m.9580A>T | CA414803253 | MT-CO3 | c.374A>T (p.Asn125Ile) | |
| MT | m.9581T>A | CA414803254 | MT-CO3 | c.375T>A (p.Asn125Lys) | |
| MT | m.9581T>C | CA645611404 | MT-CO3 | c.375T>C (p.Asn125=) | dbSNP COSMIC COSMIC |
| MT | m.9581T>G | CA414803255 | MT-CO3 | c.375T>G (p.Asn125Lys) | |
| MT | m.9581T= | CA2499566365 | MT-CO3 | c.375T= (p.Asn125=) | |
| MT | m.9582C>A | CA414803256 | MT-CO3 | c.376C>A (p.Pro126Thr) | |
| MT | m.9582C= | CA2499566366 | MT-CO3 | c.376C= (p.Pro126=) | |
| MT | m.9582C>G | CA414803257 | MT-CO3 | c.376C>G (p.Pro126Ala) | |
| MT | m.9582C>T | CA414803258 | MT-CO3 | c.376C>T (p.Pro126Ser) | ClinVar dbSNP |
| MT | m.9583C>A | CA414803259 | MT-CO3 | c.377C>A (p.Pro126His) | |
| MT | m.9583C= | CA2573323560 | MT-CO3 | c.377C= (p.Pro126=) | |
| MT | m.9583C>G | CA414803260 | MT-CO3 | c.377C>G (p.Pro126Arg) | |
| MT | m.9583C>T | CA414803261 | MT-CO3 | c.377C>T (p.Pro126Leu) | |
| MT | m.9584C>A | CA913181854 | MT-CO3 | c.378C>A (p.Pro126=) | |
| MT | m.9584C= | CA2499566367 | MT-CO3 | c.378C= (p.Pro126=) | |
| MT | m.9584C>G | CA913181855 | MT-CO3 | c.378C>G (p.Pro126=) | |
| MT | m.9584C>T | CA913181857 | MT-CO3 | c.378C>T (p.Pro126=) | dbSNP |
| MT | m.9585C>A | CA414803262 | MT-CO3 | c.379C>A (p.Leu127Ile) | |
| MT | m.9585C= | CA2499566368 | MT-CO3 | c.379C= (p.Leu127=) | |
| MT | m.9585C>G | CA414803263 | MT-CO3 | c.379C>G (p.Leu127Val) | |
| MT | m.9585C>T | CA913181859 | MT-CO3 | c.379C>T (p.Leu127=) | dbSNP |
| MT | m.9586T>A | CA414803264 | MT-CO3 | c.380T>A (p.Leu127Gln) | |
| MT | m.9586T>C | CA414803265 | MT-CO3 | c.380T>C (p.Leu127Pro) | |
| MT | m.9586T>G | CA414803266 | MT-CO3 | c.380T>G (p.Leu127Arg) | |
| MT | m.9586T= | CA2573323565 | MT-CO3 | c.380T= (p.Leu127=) | |
| MT | m.9586_9592del | CA2573105039 | MT-CO3 | c.380_386del (p.Leu127ProfsTer4) | |
| MT | m.9587A= | CA2499566369 | MT-CO3 | c.381A= (p.Leu127=) | |
| MT | m.9587A>C | CA913181865 | MT-CO3 | c.381A>C (p.Leu127=) | |
| MT | m.9587A>G | CA337098497 | MT-CO3 | c.381A>G (p.Leu127=) | dbSNP |
| MT | m.9587A>T | CA913181866 | MT-CO3 | c.381A>T (p.Leu127=) | |
| MT | m.9588G>A | CA414803267 | MT-CO3 | c.382G>A (p.Glu128Lys) | ClinVar dbSNP |
| MT | m.9588G>C | CA414803268 | MT-CO3 | c.382G>C (p.Glu128Gln) | |
| MT | m.9588G= | CA2499566370 | MT-CO3 | c.382G= (p.Glu128=) | |
| MT | m.9588G>T | CA414803269 | MT-CO3 | c.382G>T (p.Glu128Ter) | |
| MT | m.9589A= | CA2573323571 | MT-CO3 | c.383A= (p.Glu128=) | |
| MT | m.9589A>C | CA414803270 | MT-CO3 | c.383A>C (p.Glu128Ala) | |
| MT | m.9589A>G | CA414803271 | MT-CO3 | c.383A>G (p.Glu128Gly) | |
| MT | m.9589A>T | CA414803272 | MT-CO3 | c.383A>T (p.Glu128Val) | |
| MT | m.9590A= | CA2499566371 | MT-CO3 | c.384A= (p.Glu128=) | |
| MT | m.9590A>C | CA414803274 | MT-CO3 | c.384A>C (p.Glu128Asp) | |
| MT | m.9590A>G | CA913181871 | MT-CO3 | c.384A>G (p.Glu128=) | dbSNP |
| MT | m.9590A>T | CA414803273 | MT-CO3 | c.384A>T (p.Glu128Asp) | |
| MT | m.9591G>A | CA337098499 | MT-CO3 | c.385G>A (p.Val129Ile) | ClinVar dbSNP |
| MT | m.9591G>C | CA414803275 | MT-CO3 | c.385G>C (p.Val129Leu) | |
| MT | m.9591G= | CA2499566372 | MT-CO3 | c.385G= (p.Val129=) | |
| MT | m.9591G>T | CA414803276 | MT-CO3 | c.385G>T (p.Val129Phe) | |
| MT | m.9592T>A | CA414803277 | MT-CO3 | c.386T>A (p.Val129Asp) | |
| MT | m.9592T>C | CA414803278 | MT-CO3 | c.386T>C (p.Val129Ala) | ClinVar dbSNP |
| MT | m.9592T>G | CA414803279 | MT-CO3 | c.386T>G (p.Val129Gly) | |
| MT | m.9592T= | CA2499566373 | MT-CO3 | c.386T= (p.Val129=) | |
| MT | m.9593C>A | CA913181876 | MT-CO3 | c.387C>A (p.Val129=) | |
| MT | m.9593C= | CA2573323584 | MT-CO3 | c.387C= (p.Val129=) | |
| MT | m.9593C>G | CA913181877 | MT-CO3 | c.387C>G (p.Val129=) | |
| MT | m.9593C>T | CA913181878 | MT-CO3 | c.387C>T (p.Val129=) | |
| MT | m.9594C>A | CA414803280 | MT-CO3 | c.388C>A (p.Pro130Thr) | |
| MT | m.9594C= | CA2573323586 | MT-CO3 | c.388C= (p.Pro130=) | |
| MT | m.9594C>G | CA414803281 | MT-CO3 | c.388C>G (p.Pro130Ala) | |
| MT | m.9594C>T | CA414803282 | MT-CO3 | c.388C>T (p.Pro130Ser) | |
| MT | m.9595C>A | CA414803283 | MT-CO3 | c.389C>A (p.Pro130Gln) | |
| MT | m.9595C= | CA2573323587 | MT-CO3 | c.389C= (p.Pro130=) | |
| MT | m.9595C>G | CA414803284 | MT-CO3 | c.389C>G (p.Pro130Arg) | |
| MT | m.9595C>T | CA414803285 | MT-CO3 | c.389C>T (p.Pro130Leu) | |
| MT | m.9596A= | CA2499566374 | MT-CO3 | c.390A= (p.Pro130=) | |
| MT | m.9596A>C | CA913181879 | MT-CO3 | c.390A>C (p.Pro130=) | |
| MT | m.9596A>G | CA913181881 | MT-CO3 | c.390A>G (p.Pro130=) | dbSNP |
| MT | m.9596A>T | CA913181882 | MT-CO3 | c.390A>T (p.Pro130=) | |
| MT | m.9597C>A | CA414803288 | MT-CO3 | c.391C>A (p.Leu131Ile) | |
| MT | m.9597C= | CA2573323591 | MT-CO3 | c.391C= (p.Leu131=) | |
| MT | m.9597C>G | CA414803286 | MT-CO3 | c.391C>G (p.Leu131Val) | |
| MT | m.9597C>T | CA414803287 | MT-CO3 | c.391C>T (p.Leu131Phe) | |
| MT | m.9598T>A | CA414803289 | MT-CO3 | c.392T>A (p.Leu131His) | |
| MT | m.9598T>C | CA414803290 | MT-CO3 | c.392T>C (p.Leu131Pro) | |
| MT | m.9598T>G | CA414803291 | MT-CO3 | c.392T>G (p.Leu131Arg) | |
| MT | m.9598T= | CA2573323594 | MT-CO3 | c.392T= (p.Leu131=) | |
| MT | m.9599C>A | CA913181887 | MT-CO3 | c.393C>A (p.Leu131=) | |
| MT | m.9599C= | CA2573323596 | MT-CO3 | c.393C= (p.Leu131=) | |
| MT | m.9599C>G | CA913181891 | MT-CO3 | c.393C>G (p.Leu131=) | |
| MT | m.9599C>T | CA913181886 | MT-CO3 | c.393C>T (p.Leu131=) | dbSNP |
| MT | m.9600C>A | CA414803292 | MT-CO3 | c.394C>A (p.Leu132Ile) | |
| MT | m.9600C= | CA2499566375 | MT-CO3 | c.394C= (p.Leu132=) | |
| MT | m.9600C>G | CA414803293 | MT-CO3 | c.394C>G (p.Leu132Val) | |
| MT | m.9600C>T | CA913181892 | MT-CO3 | c.394C>T (p.Leu132=) | dbSNP |
| MT | m.9601T>A | CA414803294 | MT-CO3 | c.395T>A (p.Leu132Gln) | |
| MT | m.9601T>C | CA414803295 | MT-CO3 | c.395T>C (p.Leu132Pro) | |
| MT | m.9601T>G | CA414803296 | MT-CO3 | c.395T>G (p.Leu132Arg) | |
| MT | m.9601T= | CA2573323603 | MT-CO3 | c.395T= (p.Leu132=) | |
| MT | m.9602A= | CA2573323605 | MT-CO3 | c.396A= (p.Leu132=) | |
| MT | m.9602A>C | CA913181893 | MT-CO3 | c.396A>C (p.Leu132=) | |
| MT | m.9602A>G | CA913181894 | MT-CO3 | c.396A>G (p.Leu132=) | |
| MT | m.9602A>T | CA913181895 | MT-CO3 | c.396A>T (p.Leu132=) | |
| MT | m.9604del | CA2740098269 | MT-CO3 | c.398del (p.Asn133ThrfsTer19) | |
| MT | m.9603A= | CA2573323606 | MT-CO3 | c.397A= (p.Asn133=) | |
| MT | m.9603A>C | CA414803297 | MT-CO3 | c.397A>C (p.Asn133His) | |
| MT | m.9603A>G | CA414803298 | MT-CO3 | c.397A>G (p.Asn133Asp) | |
| MT | m.9603A>T | CA414803299 | MT-CO3 | c.397A>T (p.Asn133Tyr) | |
| MT | m.9604A= | CA2499566376 | MT-CO3 | c.398A= (p.Asn133=) | |
| MT | m.9604A>C | CA414803302 | MT-CO3 | c.398A>C (p.Asn133Thr) | |
| MT | m.9604A>G | CA414803301 | MT-CO3 | c.398A>G (p.Asn133Ser) | ClinVar dbSNP |
| MT | m.9604A>T | CA414803300 | MT-CO3 | c.398A>T (p.Asn133Ile) | |
| MT | m.9605C>A | CA414803303 | MT-CO3 | c.399C>A (p.Asn133Lys) | |
| MT | m.9605C= | CA2499566377 | MT-CO3 | c.399C= (p.Asn133=) | |
| MT | m.9605C>G | CA414803304 | MT-CO3 | c.399C>G (p.Asn133Lys) | |
| MT | m.9605C>T | CA913181896 | MT-CO3 | c.399C>T (p.Asn133=) | dbSNP |
| MT | m.9606A= | CA2573323613 | MT-CO3 | c.400A= (p.Thr134=) | |
| MT | m.9606A>C | CA414803305 | MT-CO3 | c.400A>C (p.Thr134Pro) | |
| MT | m.9606A>G | CA414803306 | MT-CO3 | c.400A>G (p.Thr134Ala) | |
| MT | m.9606A>T | CA414803307 | MT-CO3 | c.400A>T (p.Thr134Ser) | |
| MT | m.9607C>A | CA414803308 | MT-CO3 | c.401C>A (p.Thr134Lys) | |
| MT | m.9607C= | CA2573323615 | MT-CO3 | c.401C= (p.Thr134=) | |
| MT | m.9607C>G | CA414803309 | MT-CO3 | c.401C>G (p.Thr134Arg) | |
| MT | m.9607C>T | CA414803310 | MT-CO3 | c.401C>T (p.Thr134Ile) | |
| MT | m.9608A= | CA2499566378 | MT-CO3 | c.402A= (p.Thr134=) | |
| MT | m.9608A>C | CA337098501 | MT-CO3 | c.402A>C (p.Thr134=) | |
| MT | m.9608A>G | CA913181901 | MT-CO3 | c.402A>G (p.Thr134=) | dbSNP |
| MT | m.9608A>T | CA337098505 | MT-CO3 | c.402A>T (p.Thr134=) | |
| MT | m.9609T>A | CA414803311 | MT-CO3 | c.403T>A (p.Ser135Thr) | |
| MT | m.9609T>C | CA414803312 | MT-CO3 | c.403T>C (p.Ser135Pro) | |
| MT | m.9609T>G | CA414803313 | MT-CO3 | c.403T>G (p.Ser135Ala) | |
| MT | m.9609T= | CA2573323621 | MT-CO3 | c.403T= (p.Ser135=) | |
| MT | m.9610C>A | CA414803316 | MT-CO3 | c.404C>A (p.Ser135Tyr) | |
| MT | m.9610C= | CA2499566379 | MT-CO3 | c.404C= (p.Ser135=) | |
| MT | m.9610C>G | CA414803315 | MT-CO3 | c.404C>G (p.Ser135Cys) | |
| MT | m.9610C>T | CA414803314 | MT-CO3 | c.404C>T (p.Ser135Phe) | dbSNP |
| MT | m.9611C>A | CA913181907 | MT-CO3 | c.405C>A (p.Ser135=) | |
| MT | m.9611C= | CA2499566380 | MT-CO3 | c.405C= (p.Ser135=) | |
| MT | m.9611C>G | CA913181908 | MT-CO3 | c.405C>G (p.Ser135=) | |
| MT | m.9611C>T | CA913181909 | MT-CO3 | c.405C>T (p.Ser135=) | dbSNP |
| MT | m.9612G>A | CA414803317 | MT-CO3 | c.406G>A (p.Val136Ile) | ClinVar dbSNP |
| MT | m.9612G>C | CA414803318 | MT-CO3 | c.406G>C (p.Val136Leu) | dbSNP |
| MT | m.9612G= | CA2499566381 | MT-CO3 | c.406G= (p.Val136=) | |
| MT | m.9612G>T | CA414803319 | MT-CO3 | c.406G>T (p.Val136Leu) | |
| MT | m.9613T>A | CA414803320 | MT-CO3 | c.407T>A (p.Val136Glu) | |
| MT | m.9613T>C | CA414803321 | MT-CO3 | c.407T>C (p.Val136Ala) | |
| MT | m.9613T>G | CA414803322 | MT-CO3 | c.407T>G (p.Val136Gly) | |
| MT | m.9613T= | CA2573323630 | MT-CO3 | c.407T= (p.Val136=) | |
| MT | m.9614A= | CA2573323633 | MT-CO3 | c.408A= (p.Val136=) | |
| MT | m.9614A>C | CA913181915 | MT-CO3 | c.408A>C (p.Val136=) | |
| MT | m.9614A>G | CA913181916 | MT-CO3 | c.408A>G (p.Val136=) | dbSNP |
| MT | m.9614A>T | CA913181917 | MT-CO3 | c.408A>T (p.Val136=) | |
| MT | m.9615T>A | CA414803323 | MT-CO3 | c.409T>A (p.Leu137Ile) | |
| MT | m.9615T>C | CA913181922 | MT-CO3 | c.409T>C (p.Leu137=) | dbSNP |
| MT | m.9615T>G | CA414803324 | MT-CO3 | c.409T>G (p.Leu137Val) | |
| MT | m.9615T= | CA2499566382 | MT-CO3 | c.409T= (p.Leu137=) | |
| MT | m.9616T>A | CA414803325 | MT-CO3 | c.410T>A (p.Leu137Ter) | |
| MT | m.9616T>C | CA414803326 | MT-CO3 | c.410T>C (p.Leu137Ser) | |
| MT | m.9616T>G | CA414803327 | MT-CO3 | c.410T>G (p.Leu137Ter) | |
| MT | m.9616T= | CA2573323639 | MT-CO3 | c.410T= (p.Leu137=) | |
| MT | m.9617A= | CA2573323640 | MT-CO3 | c.411A= (p.Leu137=) | |
| MT | m.9617A>C | CA414803328 | MT-CO3 | c.411A>C (p.Leu137Phe) | |
| MT | m.9617A>G | CA913181923 | MT-CO3 | c.411A>G (p.Leu137=) | dbSNP |
| MT | m.9617A>T | CA414803329 | MT-CO3 | c.411A>T (p.Leu137Phe) | |
| MT | m.9618C>A | CA414803332 | MT-CO3 | c.412C>A (p.Leu138Ile) | |
| MT | m.9618C= | CA2573323645 | MT-CO3 | c.412C= (p.Leu138=) | |
| MT | m.9618C>G | CA414803331 | MT-CO3 | c.412C>G (p.Leu138Val) | |
| MT | m.9618C>T | CA414803330 | MT-CO3 | c.412C>T (p.Leu138Phe) | |
| MT | m.9619T>A | CA414803333 | MT-CO3 | c.413T>A (p.Leu138His) | |
| MT | m.9619T>C | CA414803334 | MT-CO3 | c.413T>C (p.Leu138Pro) | |
| MT | m.9619T>G | CA414803335 | MT-CO3 | c.413T>G (p.Leu138Arg) | |
| MT | m.9619T= | CA2512962548 | MT-CO3 | c.413T= (p.Leu138=) | |
| MT | m.9620C>A | CA913181927 | MT-CO3 | c.414C>A (p.Leu138=) | dbSNP |
| MT | m.9620C= | CA2499566383 | MT-CO3 | c.414C= (p.Leu138=) | |
| MT | m.9620C>G | CA913181928 | MT-CO3 | c.414C>G (p.Leu138=) | |
| MT | m.9620C>T | CA913181929 | MT-CO3 | c.414C>T (p.Leu138=) | dbSNP |
| MT | m.9621G>A | CA414803336 | MT-CO3 | c.415G>A (p.Ala139Thr) | ClinVar dbSNP |
| MT | m.9621G>C | CA414803337 | MT-CO3 | c.415G>C (p.Ala139Pro) | |
| MT | m.9621G= | CA2499566384 | MT-CO3 | c.415G= (p.Ala139=) | |
| MT | m.9621G>T | CA414803338 | MT-CO3 | c.415G>T (p.Ala139Ser) | |
| MT | m.9622C>A | CA414803339 | MT-CO3 | c.416C>A (p.Ala139Glu) | |
| MT | m.9622C= | CA2573323655 | MT-CO3 | c.416C= (p.Ala139=) | |
| MT | m.9622C>G | CA414803340 | MT-CO3 | c.416C>G (p.Ala139Gly) | |
| MT | m.9622C>T | CA414803341 | MT-CO3 | c.416C>T (p.Ala139Val) | |
| MT | m.9623A= | CA2573323656 | MT-CO3 | c.417A= (p.Ala139=) | |
| MT | m.9623A>C | CA913181932 | MT-CO3 | c.417A>C (p.Ala139=) | |
| MT | m.9623A>G | CA913181934 | MT-CO3 | c.417A>G (p.Ala139=) | |
| MT | m.9623A>T | CA913181933 | MT-CO3 | c.417A>T (p.Ala139=) | |
| MT | m.9624T>A | CA414803342 | MT-CO3 | c.418T>A (p.Ser140Thr) | |
| MT | m.9624T>C | CA414803343 | MT-CO3 | c.418T>C (p.Ser140Pro) | dbSNP |
| MT | m.9624T>G | CA414803344 | MT-CO3 | c.418T>G (p.Ser140Ala) | |
| MT | m.9624T= | CA2573323658 | MT-CO3 | c.418T= (p.Ser140=) | |
| MT | m.9625C>A | CA414803347 | MT-CO3 | c.419C>A (p.Ser140Ter) | |
| MT | m.9625C= | CA2573323660 | MT-CO3 | c.419C= (p.Ser140=) | |
| MT | m.9625C>G | CA414803346 | MT-CO3 | c.419C>G (p.Ser140Ter) | |
| MT | m.9625C>T | CA414803345 | MT-CO3 | c.419C>T (p.Ser140Leu) | |
| MT | m.9626A= | CA2573323665 | MT-CO3 | c.420A= (p.Ser140=) | |
| MT | m.9626A>C | CA913181938 | MT-CO3 | c.420A>C (p.Ser140=) | |
| MT | m.9626A>G | CA913181937 | MT-CO3 | c.420A>G (p.Ser140=) | |
| MT | m.9626A>T | CA913181935 | MT-CO3 | c.420A>T (p.Ser140=) | |
| MT | m.9627G>A | CA337098509 | MT-CO3 | c.421G>A (p.Gly141Arg) | dbSNP |
| MT | m.9627G>C | CA414803348 | MT-CO3 | c.421G>C (p.Gly141Arg) | |
| MT | m.9627G= | CA2499566385 | MT-CO3 | c.421G= (p.Gly141=) | |
| MT | m.9627G>T | CA414803349 | MT-CO3 | c.421G>T (p.Gly141Ter) | |
| MT | m.9628G>A | CA414803350 | MT-CO3 | c.422G>A (p.Gly141Glu) | |
| MT | m.9628G>C | CA414803351 | MT-CO3 | c.422G>C (p.Gly141Ala) | |
| MT | m.9628G= | CA2573323669 | MT-CO3 | c.422G= (p.Gly141=) | |
| MT | m.9628G>T | CA414803352 | MT-CO3 | c.422G>T (p.Gly141Val) | |
| MT | m.9629A= | CA2499566386 | MT-CO3 | c.423A= (p.Gly141=) | |
| MT | m.9629A>C | CA913181941 | MT-CO3 | c.423A>C (p.Gly141=) | |
| MT | m.9629A>G | CA913181943 | MT-CO3 | c.423A>G (p.Gly141=) | dbSNP |
| MT | m.9629A>T | CA913181942 | MT-CO3 | c.423A>T (p.Gly141=) | |
| MT | m.9630G>A | CA414803353 | MT-CO3 | c.424G>A (p.Val142Ile) | ClinVar dbSNP COSMIC COSMIC |
| MT | m.9630G>C | CA414803354 | MT-CO3 | c.424G>C (p.Val142Leu) | |
| MT | m.9630G= | CA2499566387 | MT-CO3 | c.424G= (p.Val142=) | |
| MT | m.9630G>T | CA414803355 | MT-CO3 | c.424G>T (p.Val142Leu) | |
| MT | m.9631T>A | CA414803356 | MT-CO3 | c.425T>A (p.Val142Glu) | |
| MT | m.9631T>C | CA414803357 | MT-CO3 | c.425T>C (p.Val142Ala) | ClinVar dbSNP |
| MT | m.9631T>G | CA414803358 | MT-CO3 | c.425T>G (p.Val142Gly) | |
| MT | m.9631T= | CA2499566388 | MT-CO3 | c.425T= (p.Val142=) | |
| MT | m.9632A= | CA2499566389 | MT-CO3 | c.426A= (p.Val142=) | |
| MT | m.9632A>C | CA913181952 | MT-CO3 | c.426A>C (p.Val142=) | |
| MT | m.9632A>G | CA913181951 | MT-CO3 | c.426A>G (p.Val142=) | dbSNP |
| MT | m.9632A>T | CA913181950 | MT-CO3 | c.426A>T (p.Val142=) | |
| MT | m.9633T>A | CA414803359 | MT-CO3 | c.427T>A (p.Ser143Thr) | |
| MT | m.9633T>C | CA414803361 | MT-CO3 | c.427T>C (p.Ser143Pro) | ClinVar dbSNP |
| MT | m.9633T>G | CA414803360 | MT-CO3 | c.427T>G (p.Ser143Ala) | |
| MT | m.9633T= | CA2499566390 | MT-CO3 | c.427T= (p.Ser143=) | |
| MT | m.9634C>A | CA414803362 | MT-CO3 | c.428C>A (p.Ser143Ter) | |
| MT | m.9634C= | CA2573323687 | MT-CO3 | c.428C= (p.Ser143=) | |
| MT | m.9634C>G | CA414803363 | MT-CO3 | c.428C>G (p.Ser143Ter) | |
| MT | m.9634C>T | CA414803364 | MT-CO3 | c.428C>T (p.Ser143Leu) | |
| MT | m.9635A= | CA2499566391 | MT-CO3 | c.429A= (p.Ser143=) | |
| MT | m.9635A>C | CA913181956 | MT-CO3 | c.429A>C (p.Ser143=) | dbSNP |
| MT | m.9635A>G | CA913181957 | MT-CO3 | c.429A>G (p.Ser143=) | |
| MT | m.9635A>T | CA913181959 | MT-CO3 | c.429A>T (p.Ser143=) | |
| MT | m.9636A= | CA2499566392 | MT-CO3 | c.430A= (p.Ile144=) | |
| MT | m.9636A>C | CA414803365 | MT-CO3 | c.430A>C (p.Ile144Leu) | |
| MT | m.9636A>G | CA414803366 | MT-CO3 | c.430A>G (p.Ile144Val) | ClinVar dbSNP |
| MT | m.9636A>T | CA414803367 | MT-CO3 | c.430A>T (p.Ile144Phe) | |
| MT | m.9637T>A | CA414803368 | MT-CO3 | c.431T>A (p.Ile144Asn) | |
| MT | m.9637T>C | CA414803369 | MT-CO3 | c.431T>C (p.Ile144Thr) | ClinVar dbSNP |
| MT | m.9637T>G | CA414803370 | MT-CO3 | c.431T>G (p.Ile144Ser) | |
| MT | m.9637T= | CA2499566393 | MT-CO3 | c.431T= (p.Ile144=) | |
| MT | m.9638C>A | CA913181961 | MT-CO3 | c.432C>A (p.Ile144=) | |
| MT | m.9638C= | CA2573323700 | MT-CO3 | c.432C= (p.Ile144=) | |
| MT | m.9638C>G | CA414803371 | MT-CO3 | c.432C>G (p.Ile144Met) | |
| MT | m.9638C>T | CA913181962 | MT-CO3 | c.432C>T (p.Ile144=) | dbSNP |
| MT | m.9639A= | CA2573323702 | MT-CO3 | c.433A= (p.Thr145=) | |
| MT | m.9639A>C | CA414803372 | MT-CO3 | c.433A>C (p.Thr145Pro) | |
| MT | m.9639A>G | CA414803373 | MT-CO3 | c.433A>G (p.Thr145Ala) | |
| MT | m.9639A>T | CA414803374 | MT-CO3 | c.433A>T (p.Thr145Ser) | |
| MT | m.9640C>A | CA414803377 | MT-CO3 | c.434C>A (p.Thr145Asn) | |
| MT | m.9640C= | CA2573323705 | MT-CO3 | c.434C= (p.Thr145=) | |
| MT | m.9640C>G | CA414803375 | MT-CO3 | c.434C>G (p.Thr145Ser) | |
| MT | m.9640C>T | CA414803376 | MT-CO3 | c.434C>T (p.Thr145Ile) | |
| MT | m.9641C>A | CA913181966 | MT-CO3 | c.435C>A (p.Thr145=) | |
| MT | m.9641C= | CA2499566394 | MT-CO3 | c.435C= (p.Thr145=) | |
| MT | m.9641C>G | CA913181965 | MT-CO3 | c.435C>G (p.Thr145=) | |
| MT | m.9641C>T | CA913181967 | MT-CO3 | c.435C>T (p.Thr145=) | dbSNP |
| MT | m.9642T>A | CA414803378 | MT-CO3 | c.436T>A (p.Ter146Arg) | |
| MT | m.9642T>C | CA414803379 | MT-CO3 | c.436T>C (p.Ter146Arg) | |
| MT | m.9642T>G | CA414803380 | MT-CO3 | c.436T>G (p.Ter146Gly) | |
| MT | m.9642T= | CA414803381 | MT-CO3 | c.436T= (p.Ter146=) | |
| MT | m.9643G>A | CA414803382 | MT-CO3 | c.437G>A (p.Ter146=) | |
| MT | m.9643G>C | CA414803383 | MT-CO3 | c.437G>C (p.Ter146Ser) | |
| MT | m.9643G= | CA414803384 | MT-CO3 | c.437G= (p.Ter146=) | |
| MT | m.9643G>T | CA414803385 | MT-CO3 | c.437G>T (p.Ter146Leu) | |
| MT | m.9644A= | CA414803386 | MT-CO3 | c.438A= (p.Ter146=) | |
| MT | m.9644A>C | CA414803387 | MT-CO3 | c.438A>C (p.Ter146Cys) | |
| MT | m.9644A>G | CA414803388 | MT-CO3 | c.438A>G (p.Ter146Trp) | dbSNP |
| MT | m.9644A>T | CA414803389 | MT-CO3 | c.438A>T (p.Ter146Cys) | |
| MT | m.9645G>A | CA414803390 | MT-CO3 | c.439G>A (p.Ala147Thr) | |
| MT | m.9645G>C | CA414803392 | MT-CO3 | c.439G>C (p.Ala147Pro) | |
| MT | m.9645G= | CA2573323717 | MT-CO3 | c.439G= (p.Ala147=) | |
| MT | m.9645G>T | CA414803391 | MT-CO3 | c.439G>T (p.Ala147Ser) | |
| MT | m.9646C>A | CA414803393 | MT-CO3 | c.440C>A (p.Ala147Asp) | |
| MT | m.9646C= | CA2513012617 | MT-CO3 | c.440C= (p.Ala147=) | |
| MT | m.9646C>G | CA414803394 | MT-CO3 | c.440C>G (p.Ala147Gly) | |
| MT | m.9646C>T | CA414803395 | MT-CO3 | c.440C>T (p.Ala147Val) |